_id
stringlengths 7
16
| description
stringlengths 55
95.2k
|
---|---|
pmc-6247636-1
|
A 50-year-old female patient with a previous history of hypothyroidism and no past surgical history was transferred from Ear, Nose and Throat (ENT) outpatient clinic for further evaluation of a 7 mm solitary pulmonary nodule in the right upper lobe [Fig. ]. This was incidentally discovered in a computer tomography (CT) scan of the neck done for evaluation of upper respiratory tract symptoms. A CT of the chest was done to assess the rest of the lung parenchyma. In addition to the previously mentioned peripherally located nodule, the (CT) showed a 2 X 2 cm well-defined oval shaped enhancing soft tissue anterior mediastinal tumor with (Hounsfield units of 55). All radiological findings were suggestive of thymoma [Fig. ]. As the pulmonary nodule has an intermediate risk for malignancy an integrated positron emission tomography with computer tomography (PET/CT) was performed. Nor the nodule neither the mediastinal lesion showed any hypermetabolic activity [Fig. ] so watchful waiting was elected for the management of the nodule. Due to the age of the patient and the CT radiological manifestations including the size of the mediastinal lesion, absence of intralesional fat, loss of triangular thymic shape, a soft tissue Hounsfield units as well as the oval shape of the lesion, the likelihood of epithelial thymic tumor namely thymoma has increased []. These clinical and radiological characteristics in addition to the patient’s wish encouraged us for the option of surgical resection rather than watchful waiting policy. Based on the high index of suspicion of non-invasive thymoma a right sided video-assissted thoracoscopic thymectomy. The patient was placed in left lateral decubitus position. A roll was placed under the patient’s side, elevating the body by approximately 30 to 45 degrees. Three thoracoscopic ports were used with insufflation of pleural space with CO2 (flow of 4–6 l/m, pressure of 3–5 mmHg) was performed. After assessment of the whole chest cavity, complete thymectomy including the above-mentioned tumor as well as the adjacent mediastinal fat was performed. The specimen was retrieved and a 24-Fr chest drain was inserted. A digital palpation through the thoracoscopic incisions could not detect the nodule so resection was not performed.
The post-operative course was uneventful and the patient was discharged home after chest tube removal on the first postoperative day.
The histological examination revealed grossly a completely excised thymus that contained a unilocular cyst filled with white creamy material. Histologically the cyst was lined with ciliated columnar epithelium resembling respiratory epithelium that supported the diagnosis of intrathymic bronchogenic cyst [Fig. ].
|
pmc-6247640-1
|
A 44-year-old male fell backward with his left arm supporting his body weight. His left shoulder was forced to rotate externally and hyperextended. A sudden axilla pain was felt. At physical examination, bruises were noted along with loss of pectoralis major contour (). Active shoulder forward flexion was 160° and external rotation was 70°. The internal rotation was measured to be at the Th 12 level, compared to the Th 7 level of the opposite side. There was also a decrease of internal rotation power. Sensory distribution was unaffected. There were no significant findings on plain radiograph. Magnetic resonance imaging (MRI) confirmed a complete rupture of the clavicular head, pectoralis major insertion with mild retraction ().
Surgery repair was performed 1 week after the injury. A routine deltopectoral approach was used. Blunt dissection revealed a complete rupture of the clavicular head. Tendon was mobilized over stay sutures with respect to lateral pectoral neurovascular bundles. A trial of reduction was made at the lateral head to the long head of biceps (). Two double-loaded 4.5 mm bone anchors (HEALICOIL PK suture anchor, Smith and Nephew, US) are placed in the footprint 1 cm away towards another in a divergent trajectory following decortication (). A double Krackow grasping suture was done with one limb of the pair suture. The contralateral limb was pulled to push the tendon down to the footprint. Standard surgical knots were tied in 45° arm abduction (). Postoperatively, a sling was used for 1 week. Shoulder exercise was restricted to passive assisted motion only. Assisted motion was started at 3 weeks and progressed to active motion at 6 weeks postoperatively. At 1-year follow-up, the patient returned to preinjury level function as a recreational tennis player with no complaint on the affected extremity during games.
|
pmc-6247640-2
|
A 26-year-old male presented with persistent right shoulder pain and weakness after falling down during a jujitsu sparring 7 months ago. The patient declined MRI due to the normal radiograph of the shoulder. On serial examinations, the anterior axillary fold was obliterated (). The range of motion (ROM) of the shoulder was full with 4/5 weakness on adduction and internal rotation. Weakness persisted for another 3 months which necessitate MRI concluding pectoralis major rupture with retraction to the medial border of the deltoid muscle ().
Surgical dissection revealed that the sternal head and clavicular head were retracted medially. It was noted that tendon could not be pulled adequately to the insertion site; therefore, reconstruction was preferred over a repair. Two double-loaded 4.5 mm suture anchors (HEALICOIL PK suture anchor, Smith and Nephew, US) were placed 15 mm apart on footprint. A 20 cm Achilles tendon allograft was prepared and folded once at approximately 7 cm from its distal tapered end (). The distal free end was attached with ETHIBOND 2 to the clavicular head while the proximal free end was attached to the sternal end in Krakow suturing technique, approximating with tensionless construct upon attachment to the insertion site. Sutures on the anchors are then attached to the allograft-folded end in modified Mason-Allen technique (). Postoperative protocol was similar to the first case. At 1-year of final follow-up, the patient returns to preinjury level function with no complaint on the affected extremity during sports activity.
|
pmc-6247647-1
|
A 30-year-old gentleman with mild autism was admitted to hospital for a left supracondylar fracture following a fall. He was able to communicate and perform simple daily activities independently. He had a past medical history of epilepsy and allergic rhinitis. He was recently discharged from hospital about a week ago after being treated for pneumonia. His mobility was limited by poor vision. He had had multiple falls, some of them with head injuries. His regular medications included chloral hydrate, ferrous fumarate, calcium, vitamin D supplements, and sodium valproate. He did not smoke or drink alcohol [, ].
The fracture was treated conservatively. During the admission, his sodium was noted to be 128 mmol/L. Other blood test results are shown in . He was referred to the medical team for review when the sodium levels subsequently dropped to 120 mmol/L on day 3 of admission. Tracing his previous blood test results, his sodium has always been within the range of 124 to 126 mmol/L, and the chronic hyponatremia was previously attributed to psychogenic polydipsia. The previous tests done to investigate hyponatremia were not available for review. Physical examination did not reveal any significant findings. The patient was apyrexial, had a stable blood pressure of 125/80 mmHg with a heart rate of 80 beats per minute. He was clinically euvolemic. Postural blood pressure and heart rate measurements did not show any significant variation.
As there was a drop in sodium levels from his usual baseline, the hyponatremia workup was repeated. His serum osmolality was 248 mOsm/kg, urine osmolality 387 mOsm/kg, and urine sodium 86 mmol/L. Thyroid function tests and 9 am cortisol levels were normal (). Urine osmolality of above 100 mOsm/kg suggested a degree of vasopressin secretion leading to inability to excrete free water.
The initial impression was SIADH secondary to sodium valproate, recently treated pneumonia, and pain from the left supracondylar fracture. A CT scan of the brain, thorax, abdomen, and pelvis performed to identify other causes of the hyponatremia was normal. As the patient had a urine osmolality of less than 500 mOsm/kg, he was initially placed on fluid restriction of 800 ml/day which was approximately 500 ml below his daily urine volume [], but the serum sodium level remained between 120–125 mmol/L. He was then given 2 sodium chloride tablets 3 times per day. Each sodium tablet contained 600 mg of sodium chloride. His fluid intake was further restricted to 600 ml/day.
Despite these interventions, the sodium levels did not improve. He was also trialed on furosemide 20 mg twice daily. His sodium did increase to 130 mmol/L, but the patient was complaining of significant thirst, and his renal function deteriorated. He was subsequently taken off furosemide, and his sodium levels returned to his baseline of 126 mmol/L.
Due to the history of recurrent falls with head injuries, there was a possibility of cerebral salt wasting. However, the patient was clinically euvolemic and did not display any signs of dehydration at presentation. Also, the patient did not respond to sodium supplementation in the diet which goes against the diagnosis of cerebral salt wasting.
The possibility of reset osmostat was considered. A water load test was performed one week after cessation of diuretics. Following an overnight fast, the patient was given 800 ml of water (approximately 15 ml/kg) intravenously. About 720 ml of urine was excreted in 4 hours (220 ml at 1 hour, 340 ml at 2 hours, and 570 ml at 3 hours). The results are shown in and .
A diagnosis of reset osmostat was made, and the patient was discharged without any sodium tablets and fluid restriction.
The patient remained clinically well and the sodium levels stable between 125–130 mmol/L. He is being followed up for 6 months in the clinic to monitor his sodium levels.
|
pmc-6247656-1
|
A 33-year-old African American male service member with SCT presented with an episode of myalgia, muscle stiffness, and a peak CK of 18,867U/L after exercise. His clinical history was significant for chronic exercise associated hematuria, transient proteinuria with creatinine elevation, and severe episodic pain in his lower extremities. He stated that his symptoms had begun four years earlier when he developed shortness of breath and muscle pain and was unable to complete a two-mile run. He was evaluated and found to have hematuria. Since then, he has had multiple episodes of hematuria after exertion with severe muscle pain and stiffness lasting 3-4 days. He reported hydrating well during or following exercise but had also noticed that his calves had become smaller over the years, despite exercise. He had undergone an extensive work-up for the hematuria, to include cystogram and renal ultrasound, but without any definitive diagnosis. He denied a family history of muscle problems and/or adverse reactions to anesthesia; however, a family history of pain or hematuria is unknown. Underlying inflammatory myopathy was ruled out, but the service member was placed on restricted physical activity. However, even with his relative inactivity, he complained of burning pain in his calves and shoulder stiffness two to three times a week. In addition, his health record indicated history of hypertension and depression. Active prescription medications included amlodipine (10-40mg), simvastatin (20mg), sertraline (100mg), and indomethacin (25mg).
Muscle histology showed minimal nonspecific changes (Supplemental Material, Fig. ). Muscle enzymes were within reference ranges. Electromyography was negative for myopathy. Details regarding nerve conduction studies were not available from clinical history.
WES, variants identification and analysis were performed as described previously []. Briefly, variants were filtered for minor allele frequency of <0.1-0.01% in the general population. Nonsynonymous, splice, stop gain, and stop loss variants were prioritized. A number of in silico algorithms including SWIFT, PolyPhen, and Mutation Tester were utilized to predict the effect of identified variants. The pathogenicity of the variants was assessed per American College of Medical Genetics (ACMG) guidelines []. Paralogue annotation method [] was used to further assess pathogenic effect of variants. The structure of Nav1.9 was predicted and visualized as described by Omasits U. et al. []. Sanger sequencing was used to confirm variants identified by WES.
|
pmc-6247657-1
|
A 70-year-old Sri Lankan Tamil male with a history of well-controlled type 2 diabetes mellitus and a goitre of 30 years presented with a painful enlargement of goitre on the left side for one month. He had progressively worsening difficulty in breathing with intermittent dysphagia for solids. He did not have any symptoms of local infiltration and was clinically euthyroid. Examination revealed a hard mass arising from the left thyroid lobe measuring 8 cm × 7 cm in size with gross tracheal deviation to the right side. In addition, there were two mobile lumps anterior to the mass in the subcutaneous tissue plane (). There was no retrosternal or retroclavicular extension on the left side. The right thyroid lobe was moderately enlarged and had multiple palpable nodules. There was no cervical lymphadenopathy. Ultrasound scan showed a large calcified left thyroid nodule and few superficial nodules. The outer surfaces of the nodules were delineated by an echogenic line suggestive of surface calcification. The internal echotexture of the nodules was not clearly appreciated due to artefacts from the surface calcifications. Right thyroid lobe showed only benign characteristics. Neck X-ray radiography showed a calcified left lobe with significant tracheal deviation to the opposite side (Figures and ). Thyroid stimulating hormone (TSH) and free thyroxine (T4) levels were within normal limits. Ultrasound-guided fine needle aspiration cytology (FNAC) showed scattered cyst macrophages, lymphocytes, and multinucleated giant cells in an eosinophilic background with scanty colloid. The features were compatible with a benign cyst (Thy 2).
The patient underwent a total thyroidectomy. Two confluent nodules were noted in the subcutaneous tissue plane extending through the deep fascia between the strap muscles to the calcified left lobe nodule. The deep fascia and strap muscles were thinned out and were adhered to the calcified left lobe (). Division of strap muscles on the left side was required to mobilize and deliver the left lobe containing the calcified nodule.
Macroscopic assessment of the specimen consisted of the thyroid gland with the right lobe measuring 45 × 25 × 20 mm, the isthmus measuring 65 × 15 × 4 mm, and the enlarged left lobe measuring 80 × 75 × 55 mm. The outer surface of the gland was smooth. There were two confluent nodules over the anterior surface of the left lobe measuring 12 × 8 × 8 mm and 10 × 8 × 6 mm with a smooth outer surface.
Histology of the thyroid revealed an encapsulated left lobe lesion composed of a thick fibrous wall with foci of calcification. A dense inflammatory reaction comprising lymphocytes, foamy histiocytes, and scattered multinuclear giant cells was present within the capsule. The lumen was filled with amorphous, eosinophilic material with cholesterol clefts. A thin rim of compressed thyroid tissue was noted outside the fibrous wall. Sections from the confluent nodules revealed similar histopathological features and showed encapsulated lesion surrounded by a thin fibrous capsule. They were filled with numerous foreign body type giant cells and foamy histiocytes admixed with amorphous eosinophilic material and cholesterol clefts. No thyroid or lymphoid tissue was seen. The right lobe and isthmus showed features of a colloid storing goitre. There was no evidence of malignancy in the entire specimen. Overall, features of the main calcified nodule of the left lobe and the two smaller confluent nodules were compatible with a colloid cyst with secondary changes including calcification and chronic inflammation. The patient had an uneventful postoperative recovery with the alleviation of the obstructive symptoms. He was discharged on the first postoperative day on thyroxine 100 mg daily and remained healthy without any obstructive symptoms during a three-month routine outpatient clinic review.
|
pmc-6247658-1
|
We present a case of a 51 year-old white female with a 5-year history of ulcerative colitis. She has been taking mesalamine 1.2 gram (2 tablets two times a day) for 1 year with no complications that were reported. No history of allergies and no history of smoking or alcohol abuse were present. Past medical history was only remarkable for ulcerative colitis and there was no significant past surgical or family history. Around March 2018, she started having increased watery diarrhea with occasional blood (10-12 bowel movements per day from a baseline of 1-2 bowel movements per day) as well as cramping abdominal pain. She went to see her gastroenterologist in clinic. On physical examination, she had diffuse tenderness to palpation of her abdomen. Stool studies including stool cultures, stool ova, and parasites were sent which were negative. ESR and CRP levels were elevated. Therefore, she was thought to be in a moderate to severe ulcerative colitis flare based on the current criteria and was prescribed budesonide multimatrix (MMX) 9 mg once daily. Her abdominal pain improved but the diarrhea persisted. She then received a course of oral prednisone 40 mg daily for one month without any improvement of her symptoms and was subsequently started on infliximab therapy. Prior to initiating infliximab therapy, an interferon gamma release assay, hepatitis panel, varicella zoster antibody, and HIV tests were done which were negative. On 4/13/2018, she received her first dose of infliximab 500 mg based on her weight of 100 kg (5mg/kg). Her symptoms got better during the first week after the infusion; however during her second week, she complained of nonradiating chest pain located at the midsternal region, shortness of breath, and worsening fatigue. She went to a hospital where she was admitted. Her initial vitals were significant for low to normal blood pressure and a persistent tachycardia of up to 110. EKG was negative for any acute changes and a CT-PE was also negative for pulmonary embolism but showed a moderate size pericardial effusion. She was given fluids with no change in the blood pressure, and she continued to remain hypotensive and tachycardic and was eventually transferred to another hospital for concerns of a cardiac tamponade. At the other hospital, a transthoracic echocardiogram was done that showed an ejection fraction of 65-70% and a small to moderate size pericardial effusion that was present more anteriorly and less prominently on the apical, inferior, and subcostal views (Figures and ). There were no echocardiographic criteria for cardiac tamponade. Based on the difficult anatomical location of the effusion, decision was made to medically manage the patient.
She underwent extensive workup to evaluate the etiology of her pericardial effusion. Viral causes including HIV, monospot test were negative. T-spot was also negative. Due to concerns for a drug-induced lupus from infliximab, ANA and ds-DNA were checked, which were negative. Antihistone Abs were 1.9 (positive). ESR was 70 and CRP was more than 190. There were no signs of serositis, oral ulcers, photosensitivity, blood disorders (leukopenia, anemia, and thrombocytopenia), neurologic disorder, or rash (malar or discoid).
The clinical presentation was not compatible with any other pathology and based on the specified time frame of the presentation, a diagnosis of infliximab induced lupus was made and patient was taken off infliximab therapy.
Her infectious workup for diarrhea including stool culture, stool ova and parasite, and clostridium difficile were negative. A procalcitonin level was also negative. She was in a moderate to severe ulcerative colitis flare and was therefore started on IV methylprednisolone 60 mg daily for 3 days and then transitioned to PO prednisone 40 mg daily. Her shortness of breath and fatigue got better and, after discharge, her diarrhea frequency went back to baseline. After she completed her prednisone taper, she was planned for vedolizumab (antagonist to α4β7 integrin) therapy for her ulcerative colitis. Vedolizumab is not shown to be associated with drug induced lupus [] and that is why it was chosen for our patient. She got induction therapy with IV vedolizumab 300 mg at weeks 0, 2, and 6 and was then continued on maintenance therapy with IV vedolizumab 300 mg every 8 weeks. She did not receive infliximab therapy in the future. Post discharge, serum anti-TNF alpha antibodies were checked which were negative.
|
pmc-6247667-1
|
A healthy, 40-year-old female born in the Dominican Republic living in the United States for past 20 years presented with a complaint of low-grade fevers with temperature max. of 100.2°F, night sweats, malaise, and fatigue for 6-week duration. The patient denied having any rash, exertional dyspnea, cough, or joint pains. She denied any recent travel, sick contacts, or recent changes in weight and appetite. She did not recall any significant occupational, chemical, or animal exposure. The patient also denied having any risk factors for HIV.
On physical examination, the patient was afebrile with normal vital signs. Abdominal examination revealed a palpable spleen without other appreciable organomegaly. There was no tenderness, guarding, or rigidity. Her chest, cardiovascular, genital, neurologic, and extremities examinations were unremarkable. Initial laboratory studies revealed a leukocyte count of 15,000 × 109/L with an absolute eosinophil count of 800 cells × 109/L (normal <500 × 109/L). All the other parameters of the complete blood count and differential markers of renal and hepatic function including serum calcium were within normal limits. A chest radiograph failed to demonstrate any consolidation, effusion, or cardiomegaly. Abdominal ultrasound was done and was nondiagnostic. Abdominal computed tomography (CT) imaging revealed the presence of an enlarged spleen measuring 16 × 7 × 6 cm with multiple hypodense lesions (Figures and ). The liver was reported to be normal without any evidence of hepatomegaly. No lymphadenopathy was seen on the imaging studies.
The patient's systemic symptoms with splenomegaly with multiple hypodense splenic lesions raised high suspicion for a primary hematologic malignancy or a primary splenic tumor. Following a normal peripheral blood smear and a normal bone marrow examination, a full-body positron emission tomography (PET) scan was performed. PET scan showed multiple hypermetabolic splenic lesions with an SUV of 13.0 and no pathologic uptake in any other organ or lymph nodes.
To establish a specific diagnosis, the patient underwent laparoscopic splenectomy. Histopathologic examination of the resected tissue showed multiple noncaseating granulomas with multiple histiocyte-consisting follicles (Figures and ). There was no central necrosis or evidence of polynuclear neutrophils. Special staining for acid-fast bacilli and fungus was negative. GMS was done and was negative. Angiotensin-converting enzyme (ACE) levels were checked and were found to be 75 units/L (normal 8–53 units/L). Detailed history failed to reveal any environmental or occupational exposure to beryllium and talc.
The patient failed to show any evidence of thoracic and other organ system involvement at the time of diagnosis. She did well after splenectomy with subsequent resolution of her systemic symptoms and normalization of her serum ACE levels over the next 3 months. She presented with erythema nodosum-like skin lesions after 6 months of her splenectomy. The skin lesions resolved spontaneously. She did not require any medical treatment for sarcoidosis. She continues to be asymptomatic without any evidence of thoracic and other organ system involvement 2 years after splenectomy.
|
pmc-6247670-1
|
We here report a case of an 85-year-old male who was apparently well 15 days back, when he started developing swelling of bilateral feet. The patient also complained of decreased urine output with poor urinary stream. The patient has a history of breathlessness, more so on exertion. The patient is an ex-smoker and has a history of loss of appetite and loss of weight since 1-2 months. Also, there is a history of anemia in the past with a recorded haemoglobin (Hb) level of 78 g/l. The patient's clinical examination showed multiple, nontender firm lymph nodes in the right upper jugular, middle jugular, right and left submandibular, and multiple right-sided axillary lymph nodes. His complete blood count parameters were as follows: Hb, 58 g/l; platelet count, 63 × 109/l; and total leukocyte count (TLC), 230 × 109/l. Differential counts on peripheral blood smear (PBS) were as follows: blasts, 30%; promonocytes, 5%; monocytes, 5%; neutrophils, 3%; and lymphocytes, 57%. Lymphocytes appeared mature with many smudge cells. Clinical and laboratory features of the patient were consistent with tumor lysis syndrome (TLS). Laboratory parameters supporting TLS were as follows: uric acid, 11.5 mg/dl; calcium, 7.7 mg/dl; phosphorus, 4.8 mg/dl; potassium, 4.2 meq/L;and serum creatinine, 2.42 mg/dl.
Bone marrow examination showed markedly hypercellular smears with reduced megakaryocytes and erythropoiesis. Bone marrow differential counts are summarized in . Bone marrow biopsy was markedly hypercellular with sheets of immature cells with abundant cytoplasm (monocytic look) replacing normal hematopoietic elements. In addition, there were interstitial increase and intertrabecular small to large collections of mature lymphocytes. Representative pictures of peripheral blood and bone marrow findings are compiled in .
PBS and bone marrow aspirate lymphocytosis made us to suspect a dual disorder, and we put a combined flowcytometry panel for acute leukemia and chronic lymphoproliferative disorder. Gating was done on CD45 versus the side scatter plot. The gating plot revealed two different populations, CD45 positive with moderate side scatter (Population 1-monoblasts) and CD45 positive with low side scatter (Population 2-lymphocytes). Population 1 showed monocytic markers with negative MPO, B-lineage, and T-lineage markers. Population 2 was positive for CD19 and showed dual positivity for CD5 and CD23. Overall immunophenotyping features were consistent with acute leukemia with monocytic differentiation and chronic lymphocytic leukemia. Immunophenotyping features are compiled in and .
The patient was explained about treatment options and prognosis, and he refused to undergo any further investigations and therapy.
|
pmc-6247676-1
|
A 37-year-old woman with a history of chronic back pain and sciatica presented to our teaching hospital at 36.5 weeks' gestation in early labor. At the time of presentation, she was noted to have acute onset of mild-range elevated blood pressures (140s-150s/90s) with a urine protein-to-creatinine ratio of 0.37, consistent with a diagnosis of preeclampsia. Six hours after admission, her blood pressures progressed to severe-range, with a maximum of 195/105. Per protocol, she was given IV labetalol and MgSO4 for preeclampsia with severe features. Shortly thereafter, the patient retrospectively reported that she began to have mid-back pain along with numbness, tingling, and weakness in her right lower extremity, but she did not report these symptoms initially to her healthcare team, as she was more concerned about her pelvic pain with contractions. Approximately 3 hours after the onset of her neurological symptoms, a labor epidural was administered to help control her contraction pain and blood pressures. The epidural catheter was placed uneventfully at L3-L4 with the tip threaded to the maximum height of T11. As the epidural was being placed, the patient then reported to the anesthesiologist that she had been feeling weak. The patient was noted to appear lethargic on exam, but she was able to sit up with minimal assistance for her labor epidural. Therefore, her weakness was attributed to labor. She progressed to complete cervical dilation and had a vaginal delivery with vacuum assistance due to a 5-minute prolonged deceleration on FHT.
The patient continued to complain of leg weakness after delivery. At 14 hours postpartum, the nurse encouraged the patient to attempt ambulation. However, even with her best efforts, the patient was unable to move her body from a distinct line below her breasts down to her toes. She also noticed numbness, burning, and electrical sensations to light touch from that line down to her toes. At this time the resident team was notified, and a Foley catheter was inserted. There was low suspicion for magnesium toxicity as she had intact reflexes with no complaints of shortness of breath, and her magnesium level was 5.9. She still had mild-range elevated blood pressures at the time, and she remained on IV magnesium for 24 hours postpartum.
A stat CT scan of the head without contrast resulted in normal findings with no evidence of stroke. MRI of the spine showed a fluid sac suggestive of epidural blood, measuring 3.5 cm in the craniocaudal plane and 0.4 cm in the anteroposterior plane. There was also a mild-to-moderate degree of spinal stenosis at T5-T6 due to extrinsic mass effect of the epidural hemorrhage but no direct spinal cord compression (Figures and ). The patient was immediately started on IV dexamethasone 4 mg q6h. Upon evaluation by neurosurgery, the patient was not considered to be a surgical candidate because the MRI showed no clear evidence of spinal cord hemorrhage or spinal cord compression.
On the morning of postpartum day #1, the patient remained with paresthesia in her lower extremities and flaccid paralysis from the waist down, but she was able to wiggle her toes. Her blood pressures were predominately normal (120-140/80-90) with a few mild-range elevated blood pressures. Per protocol, she was kept on IV magnesium for seizure prophylaxis until she was 24 hours postpartum. Diffusion-weighted imaging of the spine later that day showed an epidural lesion with a hemosiderin ring that had decreased in size to 2-3 mm in maximal depth, suggestive of a resolving epidural hematoma when compared to the most recent MRI ().
On postpartum day #2, the patient was started on PO nifedipine XL 30 mg daily to consistently maintain her blood pressures within normal range. Her mobility improved with demonstrated flexion and extension at the hips bilaterally, in addition to return of normal sensation in her lower extremities.
The patient's movements and sensation continued to improve day by day while she was kept on IV dexamethasone and PO nifedipine. By postpartum day #4, the patient was ambulating with a walker and had good bladder and bowel control. On postpartum day #6, the patient was ambulating without assistance and reported complete resolution of her pain in the back and lower extremities. She was discharged home in stable condition.
A follow-up MRI 6 weeks later showed complete resolution of the spinal epidural hematoma (). At the time, she was still ambulating independently and had full control of her bladder and bowel function.
|
pmc-6247678-1
|
A 34-year-old female was seen in the emergency department for abdominal pain. Her workup included a CT abdomen where she was found to have bilateral renal masses: 2.4cm on the right and 7.6 cm on the left (). Also noted were multiple small cysts in the lung bases. The rest of the workup was unremarkable and her abdominal pain resolved with conservative management alone. She was referred to urology where it was recommended that her left kidney tumor be resected and to defer the right pending pathology results. Notably, she had no prior medical history and no relevant surgical history and had otherwise been healthy and well. She has two siblings without lung, skin, or kidney symptoms and her parents are likewise healthy. She has a 15-year-old son who is healthy. There were no consistent skin findings on exam.
Pulmonary evaluation with a CT of chest identified basilar predominant multiple lung cysts with the largest cysts measuring approximately 1.6cm. Several <6mm partially solid nodules were noted as well. Spirometry, diffusion capacity, and plethysmography were all within normal limits. She did complain of mild dyspnea, but that this was intermittent and had a significant anxiety component.
She eventually underwent resection of the left kidney mass with a partial nephrectomy and a final pathologic diagnosis of an oncocytoma, which is a typical tumor type for Birt-Hogg-Dubé syndrome. Her postoperative course was unremarkable with a planned sequential right nephrectomy pending further evaluation.
Birt-Hogg-Dubé syndrome was suspected given this patient's basilar predominant multiple lung cysts and bilateral renal masses, but without skin findings the diagnosis was in question. There are no universally accepted diagnostic criteria, but typically either skin findings or a pathologic mutation must accompany the lung and kidney pathology to solidify the diagnosis. Genetic testing was thus obtained via a blood sample. The FLCN gene of the patient was sequenced with any deletions or duplications included. It showed a heterozygous mutation of the FLCN gene (c.780-2A>G) predicted to disrupt the canonical splicing acceptor site of exon 8 of FLCN. This mutation has not been previously described in the human genetic mutation database (HGMD). On further review, the HGMD has over 160 individual mutations identified in the FLCN gene. However, the majority of identified familiar mutations in the FLCN gene are confined to two separate mutations (c.1285dupC and c.1285delC).
The consistent FLCN gene mutation along with renal and lung findings supported the diagnosis of Birt-Hogg-Dubé syndrome. The patient was referred to a medical geneticist. It was noted that the patient was the child of second cousins but otherwise she had no family with syndromic complaints consistent with Birt-Hogg-Dubé syndrome. However, clinical manifestations of this disease process can be subtle and given that her kidney and lung manifestations were found incidentally, these could have remained unidentified in her family members. Genetic testing of her family is pending.
On follow-up imaging, her lung cysts have remained stable, but her right kidney tumor has increased to 2.8cm (previously 2.4cm) and a new, small 8mm satellite lesion was identified. Based on these findings resection was recommended for her given the high rate for malignant transformation.
|
pmc-6247688-1
|
An otherwise healthy 45-year-old woman with known Lynch syndrome (germline mutation in MLH1) presented in 2014 with abdominal bloating. Computed tomography (CT) showed a 4 cm pancreatic body mass encasing the portal vein, splenomesenteric confluence, and common hepatic artery with enlarged periportal lymph nodes present. Biopsy revealed pancreatic adenocarcinoma. The patient was deemed to have unresectable disease and treated with FOLFIRINOX (5-fluorouracil, folinic acid, irinotecan, oxaliplatin) and FOLFIRI with stable disease burden and declining tumor markers (Fig. ). She also received stereotactic body radiation therapy (SBRT) 3300 cGy in five fractions.
In 2015, CT scan revealed progression of disease, along with a rise in CA19-9 and clinical symptoms. The patient was enrolled in a clinical trial (NCT 02471846) of an anti-PD-L1 antibody in combination with an IDO1 inhibitor (navoximod). She demonstrated a partial response as defined by RECIST 1.1 criteria with declining tumor markers and prompt resolution of symptoms. In 2017, 22 months after beginning therapy, CT scan revealed an increasing left ovarian cystic mass. There were no other sites of progressive disease. The patient underwent a total hysterectomy and bilateral salpingo-oophorectomy, appendectomy, omentectomy and pelvic lymphadenopathy. Pathology was consistent with a metastasis from the pancreas involving the endometrium and left ovary. Thereafter, the patient continued with PD-1 blockade therapy off protocol with no further progressive disease.
Tumor mutation profile and burden were determined through MSK-IMPACT, a next generation sequencing assay of somatic mutations in key cancer genes []. TMB was 50.2 mutations per megabase (mt/Mb) in the pretreatment sample and 21.1 mt/Mb in the acquired resistance sample (Table ); both tumors were computationally consistent with microsatellite-instability high. Only the KRAS G12D and RNF43 G659Vfs*41 mutations were retained from the pre-treatment tumor in the treatment-resistant tumor. No copy number alterations were detected in either the pre-treatment or the acquired resistance tumor sample. There was no loss-of-function mutations or loss of heterozygosity (LOH) in the HLA genes, B2M, PTEN, JAK1, JAK2, or TAP1.
Immunohistochemistry (IHC) of the metastatic sample confirmed that the tumor was MMR-D, with loss of MLH1 and PMS2 expression (Fig. a-e). Histologically and immunophenotypically, the tumor exhibited features consistent with a metastasis of pancreatic origin including negative IHC staining for PAX8 (Fig. f), a marker typically associated with a Mullerian primary.
We were unable to assess immune cell infiltration with IHC in the pre-treatment tumor due to insufficient tissue. However, for the resected treatment-resistant metastasis, we found high levels of CD8+ T cells and PD-1 positive immune cells, with a moderate level of PD-L1 expression in both the immune cells and the tumor cells (Fig. g-i).
|
pmc-6247695-1
|
A 69-year-old male was referred to Cardiovascular Center Oberallgäu-Kempten with ST segment elevation myocardial infarction (STEMI). Typical symptoms of chest pain started at 10.00 p.m. The hemodynamically stable patient was admitted to the hospital at 1.30 a.m. the next day. Medical history revealed adenocarcinoma of the medial rectum (pT1, pN0 (0/14), L0, V0, R0, GII, cM0 (UICC I)) with anterior rectum resection in 2014 and complete remission. Furthermore, the patient suffered from chronic kidney disease, stage 3.
ECG showed anterior wall myocardial infarction (). The patient was immediately transferred to the cardiac catheterization laboratory and received successful emergency angioplasty/drug-eluting- (DE) stenting of the subtotally occluded left anterior descending artery (). Transthoracic echocardiography showed left ventricular hypertrophy, moderately reduced systolic left ventricular function (LVEF 40%) with anterior, septal, anteroseptal, inferior-apical, and apical hypo- and akinesia. The hemodynamically stable patient was monitored at the chest pain unit. CRP apheresis [] using the CRP adsorber (PentraSorb® CRP) within C-reactive Protein Apheresis in Acute Myocardial Infarction (CAMI-1) trial [] was performed 34 h and 58 h after the onset of symptoms. In each apheresis session, 6000 ml plasma was treated via peripheral venous access. Plasma CRP levels declined from 28.77 mg/l to 12.58 mg/l during the first apheresis session and from 24.17 mg/l to 11.55 mg/l during the second session, respectively (Figures and ). also shows cardiac enzyme progress over 72 h. Elevated creatinine kinase (CK), CK-MB, and troponin levels at admission documented acute STEMI. CRP levels, however, were normal at admission and, as a result of myocardial necrosis, increased with time []. CRP apheresis efficiently counteracted acute phase CRP elevation and reduced peak CRP plasma levels.
The patient tolerated apheresis with no clinically relevant symptoms. No side effects were observed, especially signs of infection. The patient was, on his own request, discharged in a good general condition, on day 5 after the onset of symptoms.
|
pmc-6247698-1
|
The female proband was the fifth child of non-consanguineous parents of Han Chinese descentand was born at 38 weeks gestation by Cesarean section delivery due to a uterine scar to a 30-year-old woman following an uneventful pregnancy. The first child of the parents was an unexplained spontaneous abortion, and the second child was an abortion due to a heterotopic pregnancy. The third child died soon after birth with an unknown diagnosis in a grass-roots hospital. The fourth child had a normal phenotype (Fig. ). The family had no metabolic disorders. The proband had no postnatal adaptation, and the Apgar score was 10 at 1 min. Her birth weight was 2.64 kg (between the 3rd and 10th percentiles). Her head and abdominal circumferences were 32 cm (10th percentile). Her length was 49 cm (50th percentile).
The newborn presented with poor sucking at birth and was transferred to the neonatal intensive care unit due to poor vigor, groaning, shortness of breath and cyanosis, and shock at the sixth day of life. Laboratory analyses found metabolic acidosis and severe lactic acidosis based on the arterial blood gas results, including pH 7.167, pCO2 16.9 mmHg, pO2 50.4 mmHg, HCO3–6.2 mmol/L, BE − 22.6 mmol/L, and lactate 13.7 mmol/L (reference ranges: arterial pH 7.35–7.45, pCO2 35–45 mmHg, pO2 60–90 mmHg, HCO3–21-24 mmol/L, BE − 3-3 mmol/L, and lactate ≤2.5 mmol/L). Albumin, normal saline and vasoactive agents (dopamine and dobutamine) were used to improve circulation. The acidosis was treated with sodium bicarbonate, but the plasma lactate acid was still 15.6 mmol/L. Coenzyme A and adenosine triphosphate were used to improve the acidosis, but the plasma lactate acid fluctuated between 3.0 and 10.9 mmol/L. She did not present pronounced urinary lactate. Further metabolic work-up revealed an abnormal increase in N-acetyl tyrosine-2 in the urinary organic acid test, but no abnormal acylcarnitine profiles and amino acids were detected.
Echocardiography revealed the presence of right atrial and ventricular expansion, right ventricular hypertrophy, a normal ventricular ejection function, interventricular septum thickening, tricuspid regurgitation and severe pulmonary hypertension at admission. The percutaneous blood saturation revealed 15% variation before and after the catheter. The PPHN was treated with sidenafil. The electrocardiograph showed nodal tachycardia, right ventricular hypertrophy and movement of the ST segment down 0.1 mv at V1 and V2. The Non-Invasive Cardiac System showed tachycardia, a high cardiac output, a reduction in left ventricle systolic function, and high total peripheral resistance at admission. The chest CT scan and three-dimensional reconstruction displayed coarctation of the aorta and right lung pneumonia. The renal and hepatic function tests, creatine kinase, lactate dehydrogenase, ammonia and total homocysteine were normal. The abdominal ultrasound was also normal.
On the physical examination, there were some signs of shock and mild dehydration. The neurological examination revealed poor reactivity, bregma depression with normal size, hyporeflexia and mild hypermyotonia. No seizures, nystagmus, laryngeal stridor or apnea were present in the neurological signs. The amplitude-integrated electroencephalogram (aEEG) indicted a mild abnormality (she showed no obvious sleep-wake cycles). The brain ultrasonic examination revealed mild echo enhancement on the side of the bilateral paraventricular parenchyma, a left-ependymal cyst and a right-choroid plexus cyst. The laboratory investigations showed that she had mild anemia. The child died on the sixteenth day of life due to cardiac arrest.
|
pmc-6247711-1
|
A 41-year-old man was admitted to our hospital due to anorexia, nausea, and constipation. He had experienced severe upper abdominal pain three weeks before admission and the pain had reduced for a few days. His personal history and family history were uneventful. At admission, his vital signs were as follows: temperature, 39.8°C; blood pressure, 147/92 mmHg; and heart rate, 127/min. Laboratory data were as follows: elevated white blood cell count with a left shift, 20650/mm3; C-reactive protein (CRP), 14.53 mg/dl; mildly elevated serum levels of aspartate aminotransferase (AST), 70 IU/l; alanine aminotransferase (ALT), 113 IU/l; total bilirubin, 1.5 mg/dl; alkaline phosphatase (ALP), 768 IU/l; and gamma-glutamyl transpeptidase (γGTP), 103 IU/l; prothrombin (PT) activity, 42.3% (PT-INR 1.53); fibrin degradation product (FDP), 149 μg/ml; fibrinolysis degradation product (D-dimer), 1.9 μg/ml; and antithrombin III, 93.1%. Abdominal enhanced computed tomography (CT) showed portal vein thrombosis (PVT) in the left and anterior branch of the portal vein and the wall thickening of the portal vein. The gallbladder was collapsed and pneumobilia was seen in the biliary tract (). Doppler ultrasonography (US) revealed dilated duct-like structures without any flow in the liver. Blood flow was detected only in the portal branch of segment 6 of the liver ().
A diagnosis of thrombophlebitis of the portal vein associated with CCF was made, and the patient was immediately managed with an intravenous broad-spectrum antibiotic (DRPM at 1.5 g/day) and anticoagulation therapy was started (danaparoid sodium at 2500 IU/day). Blood culture on admission was positive for Streptococcus anginosus. Magnetic resonance imaging (MRI) also showed a fistula between the gallbladder and the colon. A gallstone in the common bile duct was not seen by cholangiopancreatography (MRCP) (). Follow-up CT scans were performed on hospital days 3 and 13, and it was confirmed that the PVT had not propagated into the main portal vein. On hospital day 13, danaparoid sodium was replaced with heparin (10000 IU/day). The patient's systemic condition gradually improved and laboratory data returned to normal ranges. On hospital day 20, cholecystectomy and partial resection of the transverse colon were performed (). Postoperatively, intestinal obstruction occurred, but it was improved conservatively. Heparin was replaced with oral administration of edoxaban tosilate hydrate, and the patient was discharged on postoperative day 50. Although recanalization of the left and anterior branch of the portal vein was not seen, he had no clinical and laboratory abnormalities. Compensatory hypertrophy of the right hepatic lobe and caudate lobe was observed by a CT scan. Administration of edoxaban tosilate hydrate was discontinued at one year after the operation.
|
pmc-6247713-1
|
A 24-year-old male patient presented with gradually progressive swelling in the right side of the cheek and below the earlobe for last one year with no complaint of pain, fever, redness over the skin, or any weakness of facial musculature. On physical examination, a 3 × 2 cm firm, nontender, and mobile swelling was present in the right parotid region. Ultrasound examination showed a 2.7 × 1.5 cm well-defined swelling in the superfacial lobe of the right parotid gland with minimal vascularity. A fine-needle aspiration cytology revealed pleomorphic adenoma of the right parotid gland. With this diagnosis, right adequate parotidectomy was planned. During surgery after identification of facial nerve, while tracing branches of facial nerve forwards RMV was found to be crossing the two main trunks of facial nerve remaining lateral as shown in . All the branches of facial nerve were identified, and adequate parotidectomy was done.
|
pmc-6247715-1
|
A 63-year-old Caucasian male presented with a one-week history of uncontrolled choreiform movements of his left upper extremity. As described by the patient, his left arm began “jerking uncontrollably out of nowhere” while working in his shed at home. Prior to this development, the patient stated he had one similar episode a year ago which lasted for two days and resolved spontaneously. He did not seek evaluation at that time. His past medical history consisted of uncontrolled insulin-dependent diabetes, hypertension, schizoaffective disorder, and polysubstance abuse in remission. He reported having diabetes mellitus for at least 10 years. Reviewing the medical records, his previous HbA1C readings ranged from 13.8% to 12.4% over a 12-month span prior to his admission. His average blood sugar readings over this time ranged from 300 to 350 mg/dl. BMI was 25.3 kg/m2. His home insulin regimen included 10 units of NovoLog three times a day with meals and Lantus 20 units every morning. He was not on any oral diabetic medications. The patient reported that he was not compliant with his home insulin medications. Notably for comparison, an MRI brain performed 5 months before for a fall did not reveal any abnormalities. He denied any recent medication changes, illnesses, or headaches. His ESR and CRP were elevated, and his initial glucose level was 339 mg/dl. HbA1C was 9.9% on the day of his admission. Vital signs were normal upon presentation, and physical exam was benign aside from the hemichorea movements of the left upper extremity. Our differential diagnosis included neoplastic disorders (metastatic brain disease and brain tumor), Huntington's disease, ischemic or hemorrhagic stroke, trauma, and drug or chemical toxicity (dopamine agonist or phenytoin). CT scan of the head showed areas of high density in the right lenticular nucleus and right caudate head. Subsequent precontrast MRI demonstrated T1 and T2 hyperintense abnormalities in the caudate nucleus portion of the right basal ganglia (). Postcontrast MRI of the brain showed no abnormal enhancement excluding the possibility of a mass lesion (). Diffusion-weighted MRI brain images did not reveal any abnormal restricted diffusion in the right basal ganglia which excluded ischemia (). All of these changes were consistent with the movement pattern he was displaying and with a diagnosis of CHBG. Other conditions that have been known to cause hyperintense imaging abnormalities on MRI such as this include various cellular respiratory toxins such as carbon monoxide, methanol, and cyanide. Leigh disease and hyperammonemia from chronic cirrhosis have also been known to cause this. Our patient did not have any history that would correlate with these alternative possibilities, and additionally, none of these alternatives have been known to present with hemichorea. Inpatient treatment consisted of restarting the patient's home insulin regimen with the addition of inpatient corrective coverage. This included Lantus 20 units every morning and 10 units of NovoLog 3 times a day with meals. The patient's symptoms eventually resolved with control of his blood sugar levels. Control was achieved over roughly 48 hours during which our patient's blood glucose levels dropped from an average of mid-300s to the 170–200 mg/dl range. The choreoathetosis progressed from continuous movements to intermittent and then finally to resolution.
Endocrinology was consulted for assistance with the patient's difficult glycemic control. During his posthospitalization outpatient course, our patient began to consistently adhere to his outpatient diabetic medications. Lantus was increased to 40 units every morning and NovoLog was increased 13 units 3 times a day with meals. His HbA1C 6 months after discharge had improved to 7.1%. There were no further occurrences of choreiform movements. This time course of events demonstrates how treatment of hyperglycemia can adequately treat and lead to complete resolution of hemichorea-hemiballismic movements in patients with CHBG. In this case, symptomatic improvement began being observed 48 hours after initiation of glucose control.
|
pmc-6247716-1
|
A 39-year-old female presented to our orthopaedic clinic with plantar pain and a gait disturbance and deformities involving the toes on both feet (). One decade ago, she was examined and suspected of rheumatoid arthritis by several orthopaedic surgeons, but she has not been diagnosed a definitive diagnosis and prescribed nonsteroidal anti-inflammatory drugs. Plain radiographs of the feet showed severe joint destruction in the proximal interphalangeal (PIP) joints of the lesser toes, with joint space widening and digit shortening consistent with arthritis mutilans (). Hand and spinal radiograph findings were unremarkable. Rheumatoid factor and anticyclic citrullinated peptides antibody were negative, and the C-reactive protein level was normal (0.10 mg/dL). She has no family history of psoriasis, PsA, and rheumatic diseases. Although no skin irregularities were observed on the feet, a rash was noted on the chest (). Because PsA was suspected, a skin biopsy of the chest was obtained that showed parakeratosis, hyperkeratosis, and regular acanthosis. Histologic findings were consistent with psoriasis (). From the results, she diagnosed PsA with mutilans deformity. After treatment with adalimumab, the skin rash resolved and the pain was relieved.
Written informed consent was obtained from the patient.
|
pmc-6247719-1
|
A 22-year-old African American male initially presented to the emergency department with a three-day history of fever, chills, sore throat, and odynophagia. On examination, the patient was febrile with a temperature of 104°F and tachycardic. There was localized tenderness over the neck, and the patient had hyperemic and hypertrophic bilateral tonsils with whitish exudate. A CT scan of the neck with contrast showed acute tonsillitis with no peritonsillar abscess. Blood cultures and throat cultures were sent as part of a routine workup of a febrile patient. The patient was discharged from the emergency department on amoxicillin/clavulanate for acute tonsillitis. The patient was called back two days later, after his blood cultures showed growth for Gram-negative anaerobic bacteria. There was also growth of beta-hemolytic streptococcus on throat cultures. The patient had not taken any medications in these intervening two days.
On readmission, a new set of blood cultures were drawn, and he was started on intravenous ampicillin-sulbactam. After five days of antibiotics, the patient had persistent fever, leukocytosis, throat pain, and dysphagia. On physical examination, the patient had increased localized tenderness over his neck, without any fluctuating mass. At this point, another CT scan of the neck with contrast was repeated to rule out any drainable collection. The repeat CT scan of the neck with contrast showed rim-enhancing left peritonsillar collections with adjacent thrombophlebitis (). Also, an axial contrast-enhanced chest CT scan showed multiple new patchy cavitary nodules of the lung, suspicious for septic emboli (Figures and ). Gram-negative anaerobic bacteria from the initial emergency department visit were later identified as Porphyromonas asaccharolytica. Repeat blood cultures did not show growth of any microorganism.
Intravenous ampicillin-sulbactam was continued, and metronidazole was added to the treatment regimen. In the setting of persistent pyrexia with evidence of left-sided peritonsillar collection, aspiration of the abscess was attempted with a 23-gauge needle but was unsuccessful. Due to persistent symptoms and fever spikes, despite appropriate antibiotic therapy, a repeat CT scan of the neck with contrast was pursued which showed progression of IJV clot. Thus, anticoagulation was initiated. The patient received anticoagulation with warfarin bridged with heparin for a total duration of 3 months. The patient was discharged home with a peripherally inserted central line to complete a 5-week course of antibiotic therapy.
The patient was initially lost to follow-up as he did not show up for follow-up appointments despite repeat reminders. However, he later presented to the hospital 8 months after the initial presentation with complaints of sore throat. CT imaging of the neck and chest was done at this point and was consistent with complete resolution of the internal jugular vein thrombus () as well as cavitary lung nodules (Figures and ).
|
pmc-6247720-1
|
A 62-year-old female diagnosed with ITP after presenting with persistent epistaxis, thrombocytopenia, and wet purpura at age 51; she was known to have a prior history of warm autoimmune hemolytic anemia (although this was stable). She was considered to have Evan's syndrome after her ITP diagnosis. Her other comorbidities included diabetes mellitus (type II) and developmental delay. Over the next 3 years, she had frequent relapses of her ITP requiring hospitalization for epistaxis. She underwent splenectomy within the first 3 months of her ITP diagnosis, and eventually received eight courses of rituximab, multiple courses of IVIg and prednisone, and finally was started on romiplostim three years after her splenectomy. She maintained a stable platelet count on romiplostim 500 µg weekly for 53 weeks. Due to platelet counts remaining in the 200–600 × 109/L range, she was switched to biweekly dosing of romiplostim 250 µg and was able to maintain stable platelet counts for 11 consecutive weeks (). She experienced a mild respiratory infection after the 11th week mark which caused her platelet counts to fall. She received dexamethasone and IVIg as a rescue medication and eventually modified her romiplostim dosing schedule to alternate week dosing of romiplostim 250 µg and 500 µg. While on biweekly romiplostim, she experienced no bleeding complications. However, given her cognitive issues, she felt weekly dosing a preferable option. Presently, her platelets remain in the 200 to 300 × 109/L range while on weekly doses of romiplostim, (presently at 230 µg a week).
|
pmc-6247720-2
|
A 65-year-old female was diagnosed with chronic severe thrombocytopenia at the age of 59. She had a number of comorbidities including diabetes mellitus (type II, poorly tolerant of steroids), chronic iron deficiency, obesity, and nonalcoholic steatohepatitis. She was initially put on intermittent IVIg therapy, with platelet levels increasing from 20–30 × 109/L to over 200 × 109/L. The patient was not a candidate for splenectomy. The patient was started on romiplostim therapy at an initial dose of 100 µg weekly and was able to maintain stable platelet counts for 38 weeks. Due to cost and convenience, a trial of biweekly dosing of romiplostim was initiated. The patient was able to maintain stable platelet counts for 131 consecutive weeks; however, due to a lapse in private medication coverage, the patient discontinued romiplostim altogether (). Six weeks after her last romiplostim dose, she was given 4 doses of rituximab to maintain her platelet counts >30 × 109/L. Currently, she is on no treatment for ITP and is in partial remission, maintaining platelet counts in the range of 37–69 × 109/L. While on biweekly romiplostim, she experienced no bleeding complications.
|
pmc-6247720-3
|
A 52-year-old female was diagnosed with chronic refractory ITP at the age of 46. She had a number of comorbidities including osteoporosis and type I diabetes mellitus. She was initially able to maintain a stable platelet count on prednisone 50–70 mg therapy for 2 years; however, due to her diabetes, she was weaned off prednisone. She underwent a splenectomy three years after her initial presentation; however, her platelet count remained under 10 × 109/L one-week postprocedure. She received multiple doses of IVIg and low dose prednisone to maintain her platelet count above 30 × 109/L. Romiplostim was initiated 13 months postsplenectomy. She was started on weekly romiplostim 75 µg therapy. She maintained stable platelet counts on weekly romiplostim dosing for 94 weeks before being switched to biweekly romiplostim 75 µg therapy and was able to maintain stable platelet counts for 20 weeks (). She had extremely high platelet counts on biweekly romiplostim (400–700 × 109/L range) allowing a trial of triweekly romiplostim dosing to be introduced. On q3weekly dosing, she was still able to maintain high platelet counts for 12 weeks (), and thus, romiplostim therapy was discontinued altogether while monitoring the patient closely. The patient maintained a durable remission three years after her last dose of romiplostim. Like the other two patients, she experienced no bleeding complications while on biweekly dosing of the drug.
|
pmc-6247723-1
|
A 74- year-old Caucasian male was referred to our hematology department in November 2016 for hypochromic microcytic anemia requiring red blood cell (RBC) transfusions. He was known to carry a beta-thalassemic gene mutation, but his hemoglobin levels had dropped gradually to 5.9 g/dL in the last year with no apparent gastrointestinal blood loss. His medical history included smoking, arterial hypertension, and a thoracic aneurysm of 46 mm wide and an abdominal aneurysm of 30 mm wide with no history of coronary arterial disease. He was currently on metoprolol 25 mg per day.
Upon referral, the patient had already been transfused with 3 units of red blood cells, and his blood counts were white blood count (WBC): 5.26 × 103/μL, red blood count (RBC): 3.97 × 103/μL, hematocrit (HCT): 31.4%, hemoglobin (Hb): 9.2 g/dL, mean corpuscular volume (MCV): 79.2 fl, mean corpuscular hemoglobin concentration (MCHC): 23.2 g/dL, and platelets (PLT): 507 × 103/μL.
The bone marrow smear revealed hypercellularity with dyserythropoiesis and increased megakaryocytes with no excess blasts. The iron stain showed dense iron deposits with ring sideroblasts >15% of erythroblasts. Cytogenetic analysis revealed normal karyotype. The BCR-ABL1 fusion genes, and rearrangements of PDGFRA and PDGFRB, were negative. Similar the JAK2-V617F mutation was not detected. The patient was diagnosed with RARS-T according to WHO 2008 or MDS/MPN with RS-T according to WHO 2016, and he was started on erythropoetin alpha, 40,000 units per week administered subcutaneous (s.c.) and acetylsalicylic acid 100 mg per day. He soon became transfusion independent.
Nine months later, in August 2018, he sought medical advice for a right submandicular mass that had been rapidly growing for the past five days. The patient was afebrile and in good performance status (PS) (ECOG PS = 1). His WBC count was 7.7 × 106/μL, with 53% neutrophils; his C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were elevated (32.3 mg/L and 120 mm, respectively). The biochemistry panel was in normal ranges except for elevated lactate dehydrogenase (LDH): 257 U/L (normal range: 135–225 U/L). A computer tomography (CT) scan of the neck showed a right submandicular lymph node block measuring 5.5 × 3.2 cm with focal cystic degeneration with peripheral contrast media attenuation. The lesion was regarded as lymph node abscess, and the patient was admitted to the otorhinolaryngological department where he was empirically started on intravenous ciprofloxacin and clindamycin with no remission of the lesion. Subsequently, an ultrasound-guided fine needle biopsy was performed, and the microscopy revealed a diffuse infiltrate of large neoplastic lymphoid cells in a cohesive pattern with plasmablastic and plasmacytic features, containing eccentric nuclei with vesicular chromatin, abundant cytoplasm, and prominent central nucleolus in some of them. Some small mature tumor cells with plasmacytic differentiation were identified. Concomitant neoplastic necrosis and histiocytic/neutrophilic infiltration was noted. An immunohistochemical study was performed which revealed negativity for B-cell markers CD20, Pax-5, and only weak, focal expression of CD79a. Plasmacytoid differentiation markers CD38, CD138, MUM-1, and EMA were uniformly, intensely positive. The proliferation index demonstrated by Ki-67 expression was approximately 90%. Epstein–Barr virus was not detected by the means of EBER in situ hybridization. MYC expression was not assessed (). A repeated bone marrow biopsy showed red cell dysplasia with RS > 20% of erythroblasts and absence of plasma cells, while immunoelectrophoresis showed diffuse elevation of gamma globulins and immunofixation was normal. Testing for HIV1, 2 antibodies were negative. A diagnosis of PBL was made.
A CT scan-staging approach revealed no lymph enlargement besides the right submandicular lymph node block; however, the 18-fluorodeoxyglucose- (18-FDG-) positron emission tomography (PET)-CT scan revealed an increased uptake in the base of the tongue (SUV max. = 5.8), in addition to an increased uptake in the submandicular lymph node block (SUV max. = 4.5) and in a right cervical lymph node (SUV max. = 3.1). His cerebrospinal fluid (CSF) analysis was normal. Based on the Ann Arbor staging system, the patient was staged as IIE, and according to the international prognostic index (IPI) score, he had high intermediate (IPI: 2). He was started on CHOP every 21 days plus bortezomib 1.3 mg/m2 was administered s.c. on days 1, 4, 8, and 11 of every 21-day cycle and central nervous system (CNS) prophylaxis with intrathecal methotrexate at a dose 12.5 mg on day 1. Significant clinical improvement was noted by the completion of the first cycle with minimal palpable residual mass. After 6 cycles of therapy, he was on complete metabolic remission with negative 18-FDG-PET/CT scan and at 12 months' follow-up he was still in complete remission, with negative CT scans.
|
pmc-6247742-1
|
A 3-year-old girl presented to the emergency department after ingesting a foreign body at daycare. The suspected object was a glass pebble. At the time of the incident, the patient did not have any aspiration symptoms and was not experiencing any dyspnea, vomiting, or hypersalivation. Her vital signs were all stable. A chest x-ray demonstrated the radiopaque foreign body in the proximal esophagus (Fig. ). The patient was consented for rigid esophagoscopy and removal of foreign body under general anesthesia.
|
pmc-6247755-1
|
A 70-year-old man was referred to the S. Anna University Hospital in Ferrara (Italy) for a left upper quadrant abdominal mass incidentally discovered on a contrast-enhanced CT of the chest performed to investigate a 15-mm right pulmonary nodule.
The patient was asymptomatic, his past medical history was positive for essential hypertension, and physical examination was unremarkable.
CT scan showed a homogeneous 83-mm left adrenal lesion with an average density of 45 HU; rare peripheral dot-like calcifications were also observed (Fig. ). The right adrenal gland was normal. Due to high-density values of the left adrenal lesion excluding classic low-density adrenal adenoma, an abdominal magnetic resonance imaging (MRI) examination was subsequently performed. MRI with chemical shift imaging showed absence of signal intensity decrease in out-of-phase compared with in-phase images, restriction of intralesional molecular water diffusion in Diffusion Weighted Imaging (Fig. ) with high-intensity intralesional areas both in T1 and in T2 and T2 fat-saturated weighted images suggesting areas of intralesional subacute hemorrhage (Fig. ). After intravenous contrast medium administration of gadoteric acid (DOTAREM©, GUERBET S.p.A., Genova, Italy) at 0.1 mmol/kg, a thin capsular rim of early enhancement with slow heterogeneous centripetal enhancement was observed (Fig. , ).
Biochemical tests ruled out any endocrine dysfunction (plasma renin 20,5 μU/ml, plasma aldosterone 7,6 ng/dl, urinary adrenaline 4.59 μg /24 h; urinary noradrenaline 43.35 pg/24 h, urinary metanephrine 120.75 μg/24 h, urine normetanephrine 250.25 μg/24 h). A subsequent iodine 123 metaiodobenzylguanidine whole body scintiscan single-photon emission computed tomography-CT (I123-MIBG-SPECT-CT) ruled out the presence of a pheocromocitoma.
Due to the non-specific radiological findings and the size of the lesion, a surgical resection was then elected to establish the final diagnosis. The patient underwent a left adrenalectomy trough a left subcostal incision. Intraoperatively, the mass appeared encapsulated and hypervascularised. No evidence of hepatic as well as other peritoneal lesions was present. The operation was straightforward and the postoperative course was uneventful, with the patient discharged home on postoperative day six.
The pathological examination revealed a large lesion of 90 mm × 65 mm × 70 mm with spongy appearance due to large vascular spaces. Histologically, the lesion showed a conglomerate of widely open vascular lumina lined by endothelial cells and separated by thick nearly acellular fibrous septa (Fig. ). The final diagnosis of cavernous hemangioma was then made.
A portion of the tissues was obtained at time of surgery and a primary culture was obtained, as described previously []. Cells were then incubated without or with 5 μM mitotane (an adrenolitic drug), 50 nM doxorubicin (a cytotoxic drug) or with 1–10 μM sunitinib (a VEGF inhibitor) and cell viability was assessed after 48 h, as previously described []. As shown in Figure , doxorubicin (− 18%; p < 0.05 vs. control), but not mitotane, was capable of reducing primary culture cell viability. Similarly, sunitinib significantly reduced cell viability both at 1 and at 10 μM (− 16% and − 27%, respectively; p < 0.01 vs. control).
At 53-month follow-up the patient is doing well and has no evidence of recurrence. However, he underwent a laparoscopic prosthetic repair of incisional, umbilical and left inguinal hernias 20 months following the adrenalectomy.
|
pmc-6248686-1
|
On routine blood workup, a 79-year-old female was found to have marked leukocytosis. Medical history was significant for coronary artery disease, goiter, carotid artery stenosis, optic neuritis, hyperlipidemia, rheumatic heart disease, type II diabetes mellitus, anemia, and essential hypertension. The physical examination was positive for pallor and splenomegaly.
The initial hematological workup revealed an elevated white blood cell (WBC) count of 74.5 x 109/L (normal range 4.5 – 11 x 109/L), with elevated neutrophils and a monocyte count of 66.61 x 109/L and 8.94 x 109/L, respectively (the normal ranges for neutrophil and monocyte count are 1.45 – 7.50 x 109/L and < 0.87 x 109/L, respectively), the lymphocyte count was 3.23 x 109/L (normal range of 1.00-4.00 x 109/L), hemoglobin 6.4 g/dL (normal 11.5 – 15.5 g/dL), and the platelet count was 234 k/uL (normal range of 150-400 k/uL). The peripheral blood smear showed leukocytosis with absolute neutrophilia and monocytosis with lymphopenia and left-shift. The reverse transcription polymerase chain reaction for BCR-ABL1 was negative. The peripheral blood for the JAK2 V617F mutation was negative and the cytogenetic analysis showed 46, XX normal karyotype.
From the initial evaluation and results from the blood workup, the differential diagnoses include chronic myelogenous leukemia (CML), atypical chronic myeloid leukemia (aCML), chronic myelomonocytic leukemia (CMML), chronic neutrophilic leukemia (CNL), leukemoid reaction, and infections. Further investigation was done with a bone marrow (BM) biopsy, which showed a hypercellular marrow (95%) with marked granulocytic hyperplasia and no increase in the blasts (Figure ). The aspirate smear demonstrated granulocytic proliferation, many mature neutrophils, and macrocytic anemia with thrombocytopenia (Figure ); it also revealed a low percentage of erythroid precursors (5%) and lymphocytes (2%), respectively, as compared to the normal ranges of 13%-37% for erythroid precursors and 7%-23% for lymphocytes. The genome sequencing was positive for the CSF3RT618I mutation. Our patient fulfilled all the World Health Organization (WHO) diagnostic criteria for CNL with WBC >25 x 109/L and segmented neutrophils >=80%, hypercellular BM, and the presence of the CSF3RT618I mutation. She was managed with hydroxyurea, which is one of the most common cytoreductive agents administered to CNL patients, to control the leukocytosis. The WBC count dropped to 50 x 109/L; however, there was no clinical improvement after six weeks of treatment with hydroxyurea. Clinically, the patient continued to deteriorate and was admitted to the intensive care unit (ICU) as a case of sepsis. During the hospital stay, the patient decided to go for hospice and, unfortunately, expired in the hospital later on.
|
pmc-6248710-1
|
A 67-year-old male with a history of chronic kidney disease (CKD) stage 2 with a baseline creatinine of 1.25 mg/dl, hypertension, diabetes, and coronary artery disease, presented to us with difficulty urinating for four hours. The patient took a total of 400 mg sildenafil between 2 pm and 6 pm on the day of admission. He had sex at around 7:30 pm. After that, he was having difficulty urinating, with clamminess and intermittent palpitations. He arrived in the emergency department at 11:55 pm. He developed hematuria after Foley catheter placement for urinary retention. Home medication included lisinopril 40 mg daily for hypertension and clopidogrel post stent placement.
At admission, his temperature was 97.5 °F, and his blood pressure was 91/62 mmHg. An examination was remarkable for an absent left testicle due to orchiectomy in childhood. Serum creatinine and blood urea nitrogen (BUN) were 1.94 mg/dl and 16 mg/dl, respectively. Urinalysis revealed albumin 3+. Urine culture was negative. Parathyroid hormone (PTH) was elevated at 304 pg/ml. The calculated fractional excretion of sodium (FeNa) was 1.4%. Ultrasound showed increased echogenicity of bilateral kidneys.
The patient was put on continuous bladder irrigation for hematuria. He received two liters of normal saline bolus in the emergency department upon presentation and was continued on intravenous normal saline at a rate of 100 ml/hr. On the second day of admission, he developed lower extremities edema. Urine output was not calculable because of continuous bladder irrigation. His creatinine was increased from 1.94 mg/dl to 3.60 mg/dl for which intravenous fluid was suspended and one dose of 40 mg intravenous furosemide was administered; however, serum creatinine continued to rise to 4.60 mg/dl and his 24-hour estimated urine output was less than 400 ml, for which nephrology service was consulted and the patient was put on normal saline intravenous infusion at a rate of 50 ml/hr, clopidogrel was discontinued due to persistent hematuria, and bladder irrigation continued. On Day 4, his serum creatinine rose to 5.07 mg/dl, intravenous (IV) fluid was then suspended and intravenous furosemide was increased to 80 mg twice daily. On Day 5, the number dropped to 4.44 mg/dl, and they continued to improve as 3.70 mg/dl on Day 6 and 3.39 mg/dl on Day 7. Peak serum creatinine was recorded at 5.07 mg/dl on Day 4 (Figure ) while blood urea nitrogen (BUN) peaked on Day 6 at 71 mg/dl (Figure ). On Day 8, he was in a polyuric state with a urine output of four liters. A biopsy was not performed since it would not change the management and his kidney function was improved during a short period of time. The patient was discharged with a creatinine at 2.18 mg/dl on Day 11 and he never required dialysis. Based on the clinical scenery, a diagnosis of acute kidney injury due to acute tubular necrosis (ATN) was made. Hypoperfusion of kidneys induced by sildenafil overdose was concluded as the cause of his acute tubular necrosis, even though his blood pressure measured at the emergency department and during hospitalization was within normal limits.
|
pmc-6248745-1
|
A 19-year-old female patient reported to the Department of Oral and Maxillofacial Surgery, Vishnu Dental College, Bhimavaram with multiple impacted teeth. She gave a previous history of extractions of teeth. Her medical history revealed two episodes of epileptic seizures in the past. The patient was not under medication for any known disease at time of presentation. She was poorly built with a short stature. Extra oral examination revealed frontal bossing with medial squint of the eye. The maxilla and mandible were hypoplastic. The clinical oral examination revealed severely resorbed maxillary and mandibular arches with irregular alveolar ridge height and shallow buccal and lingual vestibules. Orthopantomogram demonstrated bilateral multiple radiolucent lesions associated with impacted teeth and healing sockets in both the arches (Figure ).
Computed tomography revealed abnormal bone morphology and calvarial suture pattern. The maxillary bone appeared highly dense with atypical trabecular pattern. Her biochemical profile was normal except for increased alkaline phosphatase value. Karyotyping was performed to rule out the association of any syndrome and the result was negative.
Pathological examination
Surgical extraction of an impacted tooth and incisional biopsy of lesion and bone was done in the region of 14 and 15. The pathological analysis revealed the lesion as dentigerous cyst with no abnormality in bone and tooth.
Treatment
Surgical extraction of all the impacted teeth and enucleation of the associated cysts was done under general anaesthesia. Ridge augmentation was performed with the autogenous bone graft harvested from posterior iliac crest region (Figure ).
Post-operative orthopantomogram shows good healing of the grafted bone without recurrence of the cyst (Figure ).
Interim complete dentures were fabricated in the immediate postoperative period for aesthetic purpose (Figure ).
The patient was further planned for full mouth rehabilitation with implant-based prosthesis at a later stage.
|
pmc-6248782-1
|
Our patient, a 58-year-old Caucasian male, presented to the emergency department with the acute onset of quadriplegia extending from C5 throughout the rest of the pan neuroaxis while awakening from bed the morning of presentation. Upon initial physical examination there were no signs of trauma noted that were significant to the presenting symptoms, additionally, patchy sensation was noted in the upper and lower extremities with clonus in the legs only and hyperreflexia in both arms and legs. Initially, our patient was administered one intravenous dose of methylprednisolone and allowed to enter a state of permissive hypertension which improved our patient's arm strength bilaterally to 2/5, but had no positive effects on the lower extremity paraplegia. As a result of minimal improvement, immediate imaging of the cervical spine was ordered and highlighted a severe cervical stenosis from C3 to C7, as seen in Figure , due to extra-axial posterior compressive spinal mass with cord signal change.
Additional imaging of the brain was completed as a precautionary measure and was normal. Upon obtaining full patient history and medical records from nearby hospitals, it was found that our patient was on a prolonged regimen of warfarin for many years due to a prior diagnosis of congestive heart failure without regulation and regular INR/prothrombin evaluation. Our patient also did not follow up with his primary care physician throughout the duration of the warfarin regimen. At presentation, our patient's INR was found to be 5.0 necessitating the prompt correction with intravenous injection of fresh frozen plasma (FFP) and vitamin K. Additional magnetic resonance imaging (MRI) of the thoracic and lumbar spine revealed large compressive acute epidural hematoma posteriorly compressing the thoracic spinal cord from T6 to T10, visualized in Figure , with cord signal change, as well as L4-S1 posterior acute epidural hematoma compressive of the cauda equine, visualized in Figure .
Upon a complete review of the patient history, presenting symptoms, and radiological imaging results our patient was deemed a prime surgical candidate that would significantly improve both motor function, sensation, and ultimate restoration of our patient's quality of life. Our patient was emergently taken to the operating room for stage 1 of a two-part surgical procedure. Stage 1 involved a posterior T3 to L1 decompression, epidural hematoma evacuation and instrumented fusion. Three days later, our patient was taken to the operating room again for stage 2 of the planed procedure which involved a posterior cervicothoracic C2 to T2 decompression and instrumented fusion with evacuation of acute epidural hematoma.
|
pmc-6248811-1
|
A 51-year-old female with a history of asthma, hypertension, dyslipidemia, and atherosclerotic heart disease presented to the emergency department with seizures. Through magnetic resonance imaging (MRI) of the brain, three left-sided intracranial lesions associated with mild vasogenic edema were discovered. Because of the metastatic appearance of lesions and her history of smoking, computed tomography (CT) imaging of the chest, abdomen, and pelvis was performed to evaluate for other sites of primary malignancy. However, CT imaging showed no other sites of a primary malignancy. The patient was placed on levetiracetam for seizure prophylaxis and dexamethasone for treatment of vasogenic edema. After an evaluation by neurology and neurosurgery, she underwent a left-sided craniotomy for removal of a left frontal brain lesion. Initial frozen sections were suspicious for primary brain malignant neoplasm, and final pathology confirmed the diagnosis of GBM (WHO grade IV).
Her initial treatment plan was temozolomide 75 mg/m2 once per day with concurrent radiation therapy, given in 30 fractions of 2 gray (Gy) five days per week for a total dose of 60 Gy, to be followed four weeks later by adjuvant temozolomide monotherapy at 150 mg/m2 a day for five days of a 28-day cycle [,]. Due to complications with insurance authorization, the temozolomide was started a week after her radiation therapy start date. Therefore, the patient received six weeks of radiation therapy and five weeks of temozolomide. No cytopenias were noted during her treatment course. She was prescribed trimethoprim-sulfamethoxazole (TMP-SMX) 800-160 mg once a day on Monday, Wednesday, and Friday for prophylaxis of Pneumocystis jiroveci infections. Home medications during concurrent temozolomide and radiation therapy included nebivolol, hydrocodone-acetaminophen, pantoprazole, triamterene-hydrochlorothiazide, lisinopril, albuterol, simvastatin, levetiracetam, dexamethasone, ondansetron, and TMP-SMX.
On day 54 following initial dose of temozolomide, she presented to the emergency department with epistaxis. Her complete blood cell count showed pancytopenia with a white blood cell count (WBC) of 0.4 K/µL (normal range: 4.0–11.0 K/µL), hemoglobin of 8.5 g/dL (normal range: 11.5–15.8 g/dL), and platelet count of 6 K/µL (normal range: 140–400 K/µL). The epistaxis was controlled with pressure and wound seal powder. The patient was also given two units of platelets for treatment of thrombocytopenia, which brought her platelet count to 78 K/µL (normal range: 140–400 K/µL). She was subsequently discharged home and instructed to follow up with oncology. During the follow-up appointment, her medication list was reviewed. The patient reported non-compliance with her oral TMP-SMX pill as prescribed. She was instructed to discontinue oral TMP-SMX and triamterene-hydrochlorothiazide to reduce the possibility of other drug-induced cytopenias.
On day 65 following initial dose of temozolomide, she continued to remain pancytopenic. She presented with confusion and altered mental status consistent with a postictal state and was hospitalized for concomitant hematemesis. She was febrile with a temperature of 101.7°F, pulse rate of 104 beats per minute, blood pressure of 93/73 mmHg, and respirations of 20 per minute. Abnormal lab values included a total WBC count of 0.7 K/µL (normal range: 4.0–11.0 K/µL), percentage of neutrophils at 1.5% with absolute neutrophil count (ANC) of 10.5 cells/µL, red blood cell count of 2.22 million/µL (normal range: 3.80–5.30 million/µL), hemoglobin of 7.1 g/dL (normal range: 11.5–15.8 g/dL), and platelet count of 11 K/µL (normal range: 140–400 K/µL) consistent with pancytopenia due to severe bone marrow suppression. The etiology of the pancytopenia was thought to be secondary to drug side effects and therefore, levetiracetam was discontinued and seizure prophylaxis was switched to lacosamide. Similar to aplastic anemia, the degree of bone marrow suppression was classified as “very severe” with depression of at least two of three cell lines, and ANC less than 200 cells/µL []. Since the pancytopenia persisted beyond 28 days after the last temozolomide dose (despite discontinuation of TMP-SMX, triamterene-hydrochlorothiazide and levetiracetam), it was attributed to temozolomide-induced bone marrow suppression []. Additional abnormalities include a chloride of 95 mEq/L (98–110 mEq/L), blood urea nitrogen of 28 mg/dL (normal range: 7–22 mg/dL), alanine amino transferase of 54 U/L (normal range: <40 U/L), albumin of 2.8 g/dL (normal range: 3.5–5.0 g/dL), C-reactive protein of 498 mg/L (normal range: <5.0 mg/L), glomerular filtration rate of 51 mL/min/1.73 m2 (normal range: >=60 mL/min/1.73 m2) and a prolactin 37.1 ng/mL (normal range: <23.0 ng/mL). Prothrombin time/International normalized ratio, troponin, ammonia, thyroid stimulating hormone, free T4, and partial thromboplastin time were within normal limits. Imaging studies with a CT brain to evaluate altered mentation in the setting of thrombocytopenia, showed no acute intracranial hemorrhage.
The patient was given supportive platelet transfusions to keep platelet counts greater than 50 K/µL, due to active clinical bleeding with hematemesis. She was given supportive erythropoietic transfusions with packed red blood cells (PRBCs). She was started on Granulocyte-Colony Stimulating Factor (G-CSF) to stimulate granulocytopoiesis and improve WBC counts. No further adjuvant temozolomide was administered. An esophagogastroduodenoscopy (EGD) was performed to evaluate etiology of hematemesis. This revealed esophageal ulcers with pathologic findings consistent with herpes simplex virus (HSV) esophagitis. Given her febrile neutropenia, she was started on empiric treatment with intravenous cefepime. She was also started on antifungal prophylaxis with fluconazole due to ongoing immunosuppression. The HSV esophagitis was treated with oral acyclovir. Her HSV esophagitis and fevers resolved with this treatment.
The patient continued to receive supportive treatment with G-CSF injections, PRBC, and platelet transfusions. A bone marrow biopsy was performed due to persisting pancytopenia on day 71 following initial dose of temozolomide. However, this was non-diagnostic due to dilute specimen. A repeat bone marrow biopsy was subsequently performed on day 77. The bone marrow biopsy and aspirate revealed predominantly trabecular bone with very little intact bone marrow. Myeloid maturation was markedly diminished and demonstrated a left shift. There were no increased blasts. Erythropoiesis was markedly diminished but without evidence of dyserythropoiesis. Rare nuclear irregularity was noted. Megakaryocytes were scarce to essentially absent. There were occasional lymphocytes and monocytes present. No significantly increased pathologic ringed sideroblasts were identified. Cellularity was estimated to be at less than 15%. Trilineage maturation was decreased overall. Normal female cytogenetics were noted. Flow cytometry revealed left shifted, immature granulocytes with CD56 expression on granulocytes and monocytes. These findings on her bone marrow biopsy revealed an aplastic or hypoplastic cause of pancytopenia, and were supportive of an acquired aplastic anemia.
After confirming the etiology of pancytopenia by bone marrow biopsy, the oral thrombopoietin agonist eltrombopag was started to aid in count recovery while formulating a treatment plan for consideration of immunosuppression with cyclosporine and anti-thymocyte globulin (ATG) [,]. In addition to the eltrombopag, G-CSF injections, PRBC, and platelet transfusions were continued. Her ANC started to improve three days following initiation of eltrombopag with resolution of neutropenia nine days following initiation. She continued to exhibit an improvement of anemia requiring infrequent PRBC transfusions, and protracted but improving thrombocytopenia. G-CSF support was continued daily until her ANC improved to greater than 1500 cells/µL and then discontinued. The eltrombopag was discontinued after four weeks of use due to transaminitis. She was discharged from hospital due to a reasonable degree of hematopoietic recovery at day 131 following first dose of temozolomide. At the time of discharge, she had a stable and moderate anemia without transfusion support, had recovered her neutrophil counts, and platelet counts had recovered to 30 K/µL requiring infrequent (one to two times per month) platelet transfusions for goal platelets greater than 20 K/µL. Therefore, consideration of allogeneic hematopoietic stem cell transplantation (alloHSCT) was deferred. On day 314 following first dose of temozolomide, her platelet counts continued to improve, and were in the range of 80–90 K/µL unsupported by platelet transfusions.
Bevacizumab was considered as second-line treatment for her GBM but was not started when platelet counts were under 50 K/µL because of the risk of fatal hemorrhage in the setting of thrombocytopenia. Bevacizumab is known to inhibit vascular endothelial growth factor (VEGF) resulting in decreased matrix deposition in blood vessels, making them susceptible to bleeding []. Maintenance therapy with tumor-treating fields (TTF) with temozolomide had now been approved for newly diagnosed glioblastomas after surgery []. Our patient was then started on antineoplastic therapy with TTF without temozolomide to treat her GBM to which she exhibited good disease control over a three-month time interval. She continued to exhibit hematopoietic recovery over this time interval with intermittent and infrequent platelet transfusions. At three months following TTF use, she exhibited disease progression of her GBM. Radiation or surgery was not option for treatment at the time, in the opinion of the treating surgical and radiation oncology teams, necessitating use of bevacizumab. At the time, her platelet counts were in the range of 80–90 K/µL unsupported by transfusions. One month following the start of bevacizumab, she developed infected wound flap at site of prior cranial surgery. She required a craniotomy for evacuation of subdural infection with drains. She was also placed on intravenous ceftriaxone and metronidazole for six weeks. Bevacizumab was deferred to allow for wound healing. Unfortunately, during this time interval she experienced acute respiratory failure needing hospitalization due to respiratory syncytial virus pneumonia. Due to declining quality of life from multiple medical issues, the patient and family elected to pursue hospice. She passed away 16 months from initial diagnosis of GBM due to disease progression from malignancy.
A complete summarization of the timeline of events has been presented in Table .
|
pmc-6248841-1
|
The patient is a 39-year-old Caucasian male with long-standing ESRD who presented for evaluation and exchange of a malfunctioning internal jugular hemodialysis catheter. Notably there was chronic hemodialysis access malfunction due to known SVC stricture with four previous SVC venoplasties performed. The normal anatomic orientation of the cardiac vessels is depicted in Figure for reference.
In this patient, an anomalous small cardiac vein draining directly into the SVC was incidentally discovered during evaluation and exchange of the malfunctioning tunneled hemodialysis catheter. Using manual dissection, the dialysis catheter was withdrawn, and a central venogram was performed to evaluate the proximal venous structures for possible stenosis or occlusion (Figure ).
High grade SVC stenosis was noted near the cavoatrial junction with filling of multiple collateral veins in the vicinity of the heart. Additional venograms were performed to further characterize this unusual anatomy (Figure ).
These subsequent venograms demonstrated two vascular structures which followed the contour of the right heart border (small cardiac vein) and base of the heart (coronary sinus). Additionally, refluxed contrast was seen within the azygos vein, excluding this as a possible explanation for the abnormal vascular filling. The immediate and most pressing concern was a possible arteriovenous fistula involving the right coronary artery and the SVC. Cardiology was consulted and the patient was taken to the cardiology department for coronary arteriogram. Directed angiographic evaluation of the coronary arteries demonstrated no evidence of fistulous communication of the SVC with the coronary arterial system (Figure ).
Delayed views did show contrast enhancement of the previously identified abnormal vessel, confirming an anomalous venous drainage of the right heart. On repeat venogram, the small cardiac vein had direct communication with the superior vena cava and there was early filling of the coronary sinus (Figure ).
Contrast enhancement of the coronary sinus did not occur when the catheter was slightly retracted and additional venogram was performed, likely indicating collateralization from the small cardiac vein. Notably, the small cardiac vein was significantly dilated measuring 3–5 mm, indicating a chronic process with dilation occurring due to worsening stenosis of the superior vena cava.
|
pmc-6248845-1
|
Our patient is a 56-year-old, left-handed female, with a two-year history of PD. Her initial symptoms included tremors in the left hand, along with complaints of micrographia, hypophonia, and fatigue. Her initial management included an incremental dose of Sinemet (25/100 mg) to which she developed severe nausea, necessitating its discontinuation. Subsequently, she was prescribed an incremental dose of pramipexole 0.125 mg twice a day by a neurologist at a community hospital. She was later advised to reduce the dose of pramipexole to half a tablet twice a day because of the side-effects of nausea, dizziness, sedation, and increased urinary frequency. She further complained of persisting symptoms of polyuria, frequent leg cramps, and lack of a feeling of well-being on pramipexole. In lieu of the persisting symptoms, pramipexole was discontinued. During this course, amantadine was also tried for tremors but discontinued because of worsening tremors. A trial of propranolol was also ineffective. She also used cannabinoid oil and medical massage but did not help her symptoms. Her diagnostic workup also included magnetic resonance imaging (MRI) of the brain and whole spine. Cerebrospinal fluid (CSF) was also obtained and reported as normal in the past.
She was diagnosed with OSA in the past but was unable to tolerate continuous positive airway pressure machine (CPAP). She also had a history of REM sleep behavior disorder along with episodes of somnambulism (sleepwalking) and bruxism. In her later clinic visits, she reported a new onset of a sleep-related eating disorder as described by her husband. She had an episode of unconsciously walking in the kitchen, eating her husband’s chocolate, and going back to bed. She reported another similar episode of eating her husband’s cereal unconsciously at night, which she had apparently disliked. She denied any episodes of binge eating during the day or night time. There was no history of episodes of consciously waking up at night to consume food. There was no history of hallucinations or cognitive dysfunction.
Her past medical and surgical history includes secondary hypothyroidism for which she is taking levothyroxine, L4-L5 laminectomy, thyroidectomy, and hysterectomy. She is on nortriptyline for anxiety and depression.
Further, she noticed a worsening of her PD symptoms. Her unified Parkinson’s disease rating scale (UPDRS) deteriorated from 30 to 41 over nine months. Her tremor worsened on the left side and gradually progressed, involving the right side.
|
pmc-6248855-1
|
A 40-year-old homeless female presented from an outlying facility with chills and body aches for two weeks. Her medical history was significant for hepatitis C, mitral valve (MV) replacement secondary to MV endocarditis, and IV drug use. At presentation, she was in septic shock, and her blood cultures subsequently yielded group A streptococcus. Of note, she stated that her last use of IV drugs was two weeks before presentation. Fluid resuscitation, antibiotics, and vasopressors were appropriately utilized. Transesophageal echocardiography revealed infected mitral valve leaflets, 2-3 cm vegetation in the left atrium, a 0.9 cm atrial septal defect with the left to right shunt, and LV ejection fraction of 15%. No abscesses were visualized. Two weeks later, transthoracic echocardiography revealed a large LVPA originating from the posterolateral wall as shown in Figures -. Cardiac computed tomography (cardiac CT) scan further elucidated the PA that measured 6.9 x 8.4 x 7.2 cm as shown in Figures -.
The cardiac CT also disclosed a fistulous tract communicating from the infected MV annulus to the aneurysmal portion of the LV. A left heart catheterization was performed to rule out a septic embolus to the coronary vessels as a cause for the PA. No coronary artery disease (CAD) or suspicious lesions were discovered. The sheer size of this PA placed this patient at a very high surgical risk. Various institutes were contacted for LVPA repair and redo MV replacement. Due to the high perioperative mortality and poor healthcare coverage, attempts to transfer the patient to tertiary cardiac care centers were futile. The patient’s ongoing drug use also affected her candidacy for MV replacement. When stabilized she was discharged from hospital care on antibiotics and supportive cardiac medications (beta blocker and ACE-inhibitor). She returned to the hospital six weeks later in cardiogenic shock and multi-organ failure. Repeat imaging revealed significantly increased LVPA size. Despite optimal medical management, the patient’s condition deteriorated, comfort care measures ensued, and she ultimately succumbed to her illness. An autopsy revealed cardiomegaly with the heart weighing 580 g. The PA measured 11 x 10 x 5 cm in size and its wall ranged from 0.5 up to 1 cm in thickness as shown in Figures -. No myocardial or aneurysmal ruptures were identified. Microscopic examination of the LVPA tissue showed that the wall was composed primarily of fibrin and organizing thrombosis, with no endocardium or myocardium present, which is consistent with PA.
|
pmc-6248865-1
|
A 51-year-old woman with no prior underlying disease, presented with four days of fever, myalgia, and vomiting. Previously, she had a history of polydipsia, polyuria, nocturia, and weight loss for one month. She denied tobacco, alcohol, or illicit drug use. There was no family history of diabetes mellitus. On examination, her blood pressure was 115/78 mm Hg, the temperature was 36.6oC, and pulse rate was 96 beats per min. Volume status was mildly dehydrated. Venous plasma glucose was recorded at 467 mg/dL. Wide anion gap metabolic acidosis and high levels of serum beta-hydroxybutyrate were present. A diagnosis of DKA was made based on the above findings. Clinical features and laboratory investigations are summarized in Table . An electrocardiogram showed sinus tachycardia and a chest X-ray showed no abnormalities. She was initially treated with isotonic saline of 1 liter (L) in one hour. Subsequently, intravenous isotonic saline was continuously administered at the rate of 500 mL/hr, along with the repletion of potassium. A bolus of insulin, followed by continuous insulin infusion, was administered.
In addition, the etiology of her acute fever was revealed as dengue infection (laboratory results in Table ). A systemic review found that she currently had vaginal bleeding. DHF was evidenced by hemoconcentration, thrombocytopenia, and hemorrhagic manifestation. After six hours of treatment, she complained of chest discomfort and developed puffy eyelids and mild pitting edema in both legs. Lung examination revealed fine crepitation in both lungs. A chest x-ray revealed bilateral hilar congestion (Figure ). These abnormalities occurred after the administration of 3 L of isotonic saline. After the detection of leakage syndrome, the rate of intravenous fluid was decreased from 140 to 60 mL/hr. Urine output was closely monitored every hour. The fluid management was aimed at a negative balance. The patient’s clinical status gradually improved and repeated chest x-ray demonstrated no sign of fluid leakage (Figure ). Eight hours after being admitted, there was finally a resolution of the DKA in the patient without additional complications. The patient was discharged the fifth day of admission with a premixed insulin injection. At her eight-month follow-up, she was able to discontinue insulin therapy and received a triple combination of oral hypoglycemic agents as long-term therapy.
|
pmc-6248868-1
|
A 73-year-old man was brought to our emergency department by pre-hospital care emergency medical personnel, after he had called “911” because of progressive lightheadedness, palpitations and generalized weakness. Ventricular tachycardia was diagnosed by the pre-hospital care personnel who administered a 150 mg intravenous (IV) bolus of amiodarone. He was transported to the emergency department, where he was hemodynamically stable despite ventricular tachycardia at a rate of ~210 bpm (Figure ). The patient’s labs were unremarkable with negative troponin. His chest X-ray showed mild pulmonary vascular congestive changes. With additional antiarrhythmic therapy, he converted to ventricular bigeminy (Figure ). An echocardiogram showed an ejection fraction of 40–45% with regional wall motion abnormalities in a coronary distribution localized to the left ventricle. Left ventricular structural measurements suggested abnormal LV mass index and severe concentric hypertrophy. Systolic and diastolic functions were abnormal: ejection fraction and diastolic filling pressures were reduced below normal values (Table ). He then underwent cardiac catheterization, which revealed only mild luminal irregularities in the left anterior descending and circumflex systems in addition to a 50% lesion of the mid-right coronary artery. Given the mild atherosclerotic disease noted on his coronary angiography, the overall impression was that of a non-ischemic cardiomyopathy. At this point, he underwent placement of an implantable cardioverter defibrillator (ICD). He was discharged, but discontinued amiodarone due to vague muscle aches. Subsequently, he returned two weeks later after several defibrillator discharges, in congestive heart failure, with persistent ventricular bigeminy. His worsened heart failure was ascribed to the bigeminy and responded to diuretics and control of ectopy.
|
pmc-6248870-1
|
This is a 62-year-old male tourist who was playing in the ocean waves. He was caught and rolled over by a wave and was driven into the water, and he hit the head over the seabed. He experienced transient numbness and weakness in the four limbs. The patient reported only neck pain; on examination, bruises were observed in the left frontotemporal area, and he had normal motor and sensory function of the upper and lower limbs.
Radiological tests showed an atlanto-occipital dislocation and other traumatic injuries. Conventional X-rays were normal. Axial computed tomography (CT) scan showed an atlanto-occipital rotatory dislocation characterized by rotatory displacement of the atlanto-occipital joints into the right; parasagittal views showed widening of the condylar-C1 interval in both sides (right 2.5 mm, left 4.3 mm) indicating disruption of these joints. In additon, a right occipital condyle fracture was observed (Figure ).
Magnetic resonance imaging (MRI) showed distraction injury of atlanto-occipital and atlanto-axial articular capsules; in addition, the right alar ligament was attached to the bone fragment of the condylar fracture. Because the patient was a tourist, he was transferred to his country of origin to continue treatment. He was treated with occipitocervical fixation.
|
pmc-6248870-2
|
This 71-year-old male tourist was swimming in the ocean close to the shore when he was rolled over by a wave. He was driven into the water and hit the head on the sea bottom. He immediately experienced tingling in the four limbs that reversed spontaneously. At admission, he only reported neck pain. On examination, he was neurologically intact. Some bruises were observed on the forehead. Radiological tests showed a type II odontoid fracture with displacement of 3 mm (Figure ).
The patient was treated with immobilization. He traveled to his country of origin to continue medical treatment.
|
pmc-6248870-3
|
A 61-year-old male tourist was swimming in the ocean when he was caught by a big wave. He initially hit the sea bottom with his face and was violently rolled over. At admission, he referred intense thoracic pain. On examination, severe contusion and ecchymosis were observed on the right orbital area causing complete eye occlusion. A very painful area was identified in the upper spinal thoracic area; he referred intense pain even with mild movements. He was neurologically intact. A CT scan and MRI showed compression fractures at T4-T5, the canal spinal was preserved, and the MRI showed disruption of the posterior ligamentous complex (Figure ).
Instrumentation from T3 to T6 and fusion were performed. The patient achieved a good outcome, he did not show any neurological deterioration or complications.
|
pmc-6248870-4
|
A 40-year-old male tourist was swimming in the ocean surf zone when he was caught and rolled over by a wave, and he landed on his buttocks over the seabed. At admission, he referred intense low back pain. Neurologically he was intact. Radiological tests showed a wedge-compression fracture located at L1 (Figure ).
The patient was treated conservatively with analgesics and was discharged with a brace.
|
pmc-6248875-1
|
A 66-year-old man with a past medical history of heart transplant with coronary artery disease of a transplanted heart with prior LVAD placement presented to the gastroenterologist with one year of diarrhea and a reported history of colonic polyps. He complained of occasional stools with blood. Colonoscopy revealed a 12 mm soft, sub-epithelial lesion likely representing a lipoma. Also seen during the procedure were multiple angioectasias and general edema with an atrophic ileum. After the colonoscopy, he developed subjective fevers, chills, non-bloody emesis, and diarrhea. The next day he had abdominal pain and distension. He presented to the hospital, where he was found to be in SIRS with tachycardia and labs significant for leukocytosis of approximately 15000. The diagnosis of microperforation after colonoscopic insufflation was considered, and computed tomography (CT) of the abdomen was obtained to assess for free air in the abdomen to suggest perforation. This scan, seen in Figure , did not show any signs of perforation, but did show colonic extension from the hepatic flexure back inferolaterally into a Spigelian hernia with mild fat stranding. It also showed wall thickening of the proximal transverse colon as it exited the hernia. This hernia was occurring through the site of the prior LVAD. Figure illustrates the hernia in a sagittal view and more easily visualizes the herniation through a prior LVAD site.
The patient was admitted and started on ceftriaxone and metronidazole for suspected microperforation to cover for intra-abdominal pathogens such as enterococci and anaerobic organisms. Surgery recommended antibiotic coverage and serial abdominal exams as the small abdominal hernia was found to be easily reducible. Over the next 24 hours, the patient’s abdominal pain improved initially, but he then developed worsening tachycardia with chills and hypoxia to 88% on a non-rebreather mask. The patient was intubated with subsequent hypotension requiring norepinephrine pressor support. A repeat CT abdomen, shown in Figure , showed persistent colonic wall thickening over a 10 cm segment of transverse colon. This thickened area was the segment of the colon that was previously contained in the Spigelian hernia on the first scan in Figure . The findings were concerning for ischemic colitis of the thickened segment and he was taken to the OR at that time for diagnostic laparoscopy, which was converted to an open procedure with resection of the thickened transverse colon segment and creation of an end colostomy. The pathology was consistent with ischemic colitis with mucosal ulceration and submucosal gangrenous necrosis. Figure shows surface erosion while Figure shows transmural inflammatory cells. These pathologic findings culminate in Figure where circular areas of abscess are appreciated. The patient had a prolonged post-operative hospital course, but he eventually recovered and was extubated. He was discharged and underwent a laparoscopic takedown of his end colostomy with return to rectal function.
|
pmc-6249091-1
|
A 64-year-old woman presented with a 30-year history of refractory asthma. She had been treated with anti-allergic drug therapy, inhaled corticosteroids (fluticasone propionate 1000 μg/day), a long-acting beta-agonist, and a long-acting muscarinic antagonist. She had occasionally been treated with oral or systemic corticosteroids (oral prednisone 10 mg/day or methylprednisolone sodium succinate 80 mg/day, 3–5 days) for exertional dyspnoea. However, these treatments were all insufficient. She had been characterized as an allergic, eosinophilic asthmatic, with positive results for perennial inhalant allergen sensitivity, allergic rhinitis, and allergic diathesis (egg and sesame) with immunoglobulin E (IgE) and peripheral eosinophil levels of 618 IU/mL and 1006/μL, respectively, and omalizumab was tried initially. However, it was found to be insufficient owing to asthma exacerbation, and she required inpatient treatment 2 months later. In the 16th week following omalizumab, these treatments were not effective for asthma symptom control. If was felt that benralizumab was indicated for eosinophilic predominant asthma.
On physical examination, chest auscultation revealed slight diffuse expiratory wheezing, but the remaining systemic examination did not reveal any significant abnormalities. Her peripheral arterial blood oxygen saturation was 95% on room air. Computed tomography (CT) showed diffuse bronchial wall thickening and paranasal sinusitis (Fig. A, B). She had sputum eosinophilia (Fig. C). The eosinophil count was more than 80% in sputum. Laboratory data showed an increase in the number of peripheral eosinophils and IgE level. The blood eosinophil count was 1924/μL and the IgE level was 4123 IU/mL. The patient’s FEV1 was 1640 mL (%FEV1, 66.3%) and her vital capacity (VC) was 2400 mL (%VC, 89.0%). The fractional exhaled nitric oxide (FeNO) was 13 ppb (Table ).
We began treatment with benralizumab. The eosinophil count decreased from 1924 to 0/μL after 2 weeks of treatment. The IgE level decreased from 4123 to 836 IU/mL after 4 months (Table ). Moreover, CT showed reduced mucus secretion in the bronchus and paranasal sinus 2 months later (Fig. D, E). Eosinophils disappeared from the sputum immediately (Fig. F). However, the %VC, %FEV1, and FeNO did not change between baseline and 4 months following the initiation of benralizumab. The Asthma Quality of Life Questionnaire score improved from 5.53 at baseline to 6.43 4 months after treatment began (Table ).
|
pmc-6249143-1
|
A 63-year-old female presented with an established non-union of a proximal tibial stress fracture and secondary osteoarthritis of the knee. The stress fracture had failed to unite over a period of 2 years despite attempts at both conservative and surgical treatment with proximal tibia plating and bone graft augmentation. She had a residual 10 degrees of varus proximal tibial deformity and non-union with an Oxford knee score of 22 (Fig. ).
She underwent correction of deformity and treatment of non-union using principles of distraction osteogenesis in a TSF fixator. The frame fixator was stabilised with two half pins and an olive wire for the proximal ring and three olive wires for the distal ring. The two rings were connected with six struts, and a computer-generated programme was used for correction. An uneventful deformity correction along with proximal tibial union was achieved at 42 weeks.
The lady then had a primary total knee replacement 18 months following the corrective surgery for symptomatic secondary knee osteoarthritis. At 5 years follow-up, she had a flexion range of 0–90 degrees in the knee with a Knee Society score of 89 (functional score of 90) and the Oxford knee score of 38.
|
pmc-6249143-2
|
A 64-year-old male presented with a post-traumatic tibial deformity and secondary osteoarthritis of the knee. The predominant tibial deformity following the malunion was 10 mm shortening, 8 degrees of varus and 7 degrees of recurvatum and an Oxford knee score of 16. The planning for corrective surgery was further strained by the presence of an ipsilateral ankle arthrodesis in this patient (Fig. ).
He underwent corrective osteotomy to allow adequate correction of the deformity and realignment of the tibial mechanical axis using a Taylor spatial frame. A corticotomy was performed at 90 mm proximal to the centre of rotation of angulation for the deformity (CORA). This resulted in 10 mm of posterior translation at the corticotomy site. The corticotomy was stabilised using two half pins and a wire for the proximal ring and three olive wires for the distal ring. The two rings were connected using six struts, and the deformity corrected using a computer-generated correction programme. The correction and union at corticotomy site were achieved at 38 weeks.
He subsequently underwent an uneventful primary total knee arthroplasty 24 months following the deformity correction for symptomatic secondary knee osteoarthritis. At 4 years follow-up, he had a flexion range of 0–100 degrees in the knee and a Knee Society score of 90 [functional component 90] and an Oxford knee score of 41.
|
pmc-6249143-3
|
A 63-year-old female presented with a tibial deformity and secondary osteoarthritis of the knee. The tibial deformity was multiplanar with a proximal tibial valgus of 12 degrees, external tibial torsion of 20 degrees and a distal tibial recurvatum of 30 degrees. The proximal tibial deformity was secondary to lateral tibial plateau fracture, whereas the supramalleolar ankle deformity was secondary to distal tibial malunion following a road traffic accident 20 years earlier. She had an Oxford knee score of 18 (Fig. ).
She underwent correction of external tibial torsion (rotational deformity) and recurvatum at the distal tibial using a Taylor spatial frame with supramalleolar corticotomy. The corticotomy was stabilised using two half pins and an olive wire for the proximal ring and three olive wires for the distal ring. The two rings were connected using six struts and the deformity correction undertaken using a computer-generated programme. During the course of correction, this patient required a short course of oral antibiotics for pin site infection and also had a reoperation for readjustment of her frame. Correction of the deformity was achieved at 40 weeks with removal of the frame. She underwent a total knee replacement at 18 months following the deformity correction for symptomatic secondary osteoarthritis. The peri-articular valgus deformity of the knee was addressed with bony resection intraoperatively. She was also found to have an attenuated medial collateral ligament of the knee which required an intraoperative ligament reconstruction using Mitek® bone anchors and semitendinosus graft. At 4 years follow-up, she had a flexion range of 0–90 degrees in the knee with a Knee Society score of 81 (functional score 75) and an Oxford knee score of 35.
|
pmc-6249149-1
|
The patient is a 41-year-old male who was involved in a motor vehicle trauma. He was the restrained driver of a large truck that struck another large vehicle. The patient’s left leg was crushed inside the burning cab of the vehicle and traumatically amputated through the knee. There were some contaminated soft tissue and osseous components of the proximal tibia and knee directly within the zone of injury. A circumferential thigh tourniquet was placed in the field by the emergency responders for uncontrolled bleeding from limb.
In the trauma bay, Advanced Cardiovascular Life Support (ACLS) protocol was followed for initial patient stabilization. Clinical examination revealed a 3-cm open wound along the medial aspect of the mid-thigh just proximal to the applied field tourniquet (Fig. ). Radiographs taken in the trauma bay demonstrated a comminuted left femoral shaft fracture as well as a near complete amputation of the left lower extremity through the knee (Fig. ). A closed right patella fracture was the only other injury identified. The patient was brought immediately to the operating room for orthopedic intervention; vascular surgery was consulted and on-call to the operating room.
In the operating room, the tourniquet was removed and the injury zone explored. The popliteal artery was immediately identified and formally ligated. The remainder of the sciatic nerve was also identified and sharply transected and allowed to retract. Debridement and irrigation of the open femur fracture were performed, and a uniplanar anterior external fixator (Smith and Nephew Inc., Memphis, TN) was applied. The soft tissues about the distal femur were debrided until clean margins were obtained, leaving the distal femoral condyle exposed (Fig. ). A vacuum-assisted closure (VAC) device (Kinetic Concepts, Inc., San Antonio, TX) was applied over the distal end of the extremity. Forty-eight hours later, the patient returned to the operating room for right patellar fracture fixation and repeat debridement of the left lower extremity traumatic amputation site. A VAC was again placed over the open wound.
On day five, the patient returned to the operating room. The external fixator was removed from the femur. An anterolateral incision was made along the long axis of the femur, and dissection was carried down to the location of the femoral fracture site. The large butterfly fragment was removed and an oscillating saw was used, under saline irrigation, to make flat cuts across the femoral shaft at the distal end of the proximal fragment and the proximal end of the distal fragment. The femur was then acutely shortened approximately 12 cm and held with two clamps through the surgical wound. A standard intercondylar retrograde entry portal was then made for a retrograde nail in the exposed distal femur, and a guidewire was placed across the fracture. The length of the shortened femur was measured, and the canal was sequentially reamed. A Smith and Nephew Trigen 11.5 mm × 250 mm retrograde femoral supracondylar nail was then placed across the fracture (Smith and Nephew Inc., Memphis, TN). The nail was locked distally, and then impacted until direct cortical contact was confirmed at the fracture site. Two proximal interlocking bolts were then placed proximally.
At the distal TKA site, the quadriceps tendon was identified; a patellectomy of the remaining fracture fragments was performed and a quadriceps myodesis was performed to the posterior cruciate ligament and medial femoral condyle. Tendons from the semimembranous, semitendinosus and biceps femoris were tenodesed to the quadriceps tendon and soft tissues covering the distal femoral condyles. The adductor attachments to the medial distal femur remained in place. The soft tissues were elevated around the distal femur and closed in layers over the end of the residual limb but resulted in an irregular closure over the distal aspect of the limb with multiple areas of necrotic tissue (from the initial trauma and burn) still remaining (Fig. ). The patient returned to the operating room 2 days later with the plastic surgery team for superficial debridement of the distal end of the residual limb and split-thickness skin grafting from the ipsilateral thigh. The skin graft was placed over the quadriceps and hamstring muscles that had been pulled over the distal femoral condyles (Fig. ). The patient remained in the hospital postoperatively and was discharged 1 week later after confirmation that the skin graft had taken without complication.
The patient was followed in the outpatient clinic; all sutures and staples were removed at 4 weeks. After wound healing and maturation had occurred, the patient began prosthesis fitting. He demonstrated excellent control of the limb with no evidence of abduction drift or hip flexion contracture. A modified transfemoral amputation (TFA) prosthesis was successfully fit to the residual limb at 4 months. The patient is currently 18 months out from his injury; his osteotomy has healed with some intramuscular heterotopic ossification (Fig. ). He reports excellent control of the residual limb and wears his custom prosthesis for the majority of the day. He has occasional phantom limb pain but requires no analgesic medication. He has no areas of soft tissue break down or ulceration along the distal aspect of the residual limb. He ambulates without an assist device and has returned to modified desk work at his original place of employment.
|
pmc-6249237-1
|
A 47-year-old man presented to his local primary care physician with symptoms of diarrhea and clay-colored stools in April 2018. Laboratory studies revealed direct hyperbilirubinemia which prompted further workup. A right upper quadrant ultrasound showed gallbladder sludge and dilation of the common bile duct to 12 mm indicating obstructive jaundice. No intrahepatic ductal dilatation was appreciated. Computed tomography scan of the abdomen showed a mass in the head of the pancreas which was found to measure approximately 2.6 cm × 1.4 cm in subsequent magnetic resonance imaging (MRI) examination. No evidence of metastasis was found. The patient then underwent an endoscopic retrograde cholangiopancreatography and placement of a plastic biliary stent across a focal stricture of the distal common bile duct secondary to the pancreatic head mass. A diagnosis of pancreatic adenocarcinoma was made.
Upon transfer to our institution in May 2018, laboratory workup revealed hyperbilirubinemia and elevated liver enzymes. In response to the hepatic workup abnormalities, we started the patient on a neoadjuvant regimen of FOLFIRINOX with reduced doses of 5-FU and irinotecan plus standard doses of oxaliplatin and leucovorin. In cycle 1, the standard dose of irinotecan (180 mg/m2) was reduced by 50% and 5-FU was only administered as a bolus due to lack of port in the patient in the first cycle and the hyperbilirubinemia. The patient received full dose of oxaliplatin (85 mg/m2 = 190 mg) and leucovorin (400 mg/m2 = 900 mg) along with the reduced dose of irinotecan (90 mg/m2 = 200 mg) and the 5-FU bolus (400 mg/m2 = 900 mg) on day 1 (Table ). The dosing adjustments were implemented to prevent potentially serious toxicity-related adverse effects from 5-FU and irinotecan while we awaited the results from the UGT1A1 and DPYD genotyping tests, which we have recently integrated into our clinical practice as a quality improvement initiative. We planned to escalate the chemotherapy regimen to full dose for cycle 2 depending on the results from the genetic tests. Despite the marked dose reductions in cycle 1, blood tests prior to initiation of cycle 2 revealed grade 2 neutropenia with an absolute neutrophil count of 1.17 × 109/L.
Prior to administration of cycle 2 of the dose-adjusted FOLFIRINOX, we received the pharmacogenomic test results, which indicated that the patient is homozygous for the UGT1A1 allele and an heterozygous carrier of a DPYD variant identified as c.536dupC, a no-activity allele. The pharmacogenomics findings in our patient guided us to maintain some of the dose reductions alongside further modifications based on pharmacogenomics e-consult. Additionally, given the neutropenia, growth factor support was also added to maintain the curative-intent intensity of neoadjuvant therapy. Adjustments in cycle 2 consisted of the same 50% reduction in the dose of irinotecan and a 75% reduction in the 5-FU dose (600 mg/m2 = 1350 mg administered over 2 days from day 1 to day 2) plus omission of the 5-FU bolus. The patient continued receiving standard doses of oxaliplatin and leucovorin in both cycle 2 and 3. Dosing adjustments from cycle 2 were maintained in cycle 3, except for 5-FU which was given as the bolus dose reduced by only 50% (200 mg/m2 = 450 mg on day 1) and the continuous infusion was escalated to 50% (1200 mg/m2 = 2700 mg administered over 2 days) along with pegfilgrastim support starting in cycle 2. No other dosing modifications or escalations were done in cycles 3–5. There was one admission to the ER for diarrhea during cycle 3 requiring IV fluids. This did not occur in cycles 4 and 5.
Because of the young age of onset of pancreatic adenocarcinoma in the patient and a maternal history of breast cancer with a confirmed RAD51C variant (c.790G > A), we performed comprehensive testing to evaluate the following genes: APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, FANCC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PALLD, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, TSC1, TSC2, and VHL. Results were negative for all genes that were evaluated.
To date, the patient initially received 5 cycles of neodjuvant FOLFIRINOX. The treatment had been well-tolerated with no evidence of severe adverse effects. At the most recent follow-up, MRI examination showed reduction in the size of the tumor to approximately 1.9 cm × 1.6 cm. Furthermore, serum levels of CA 19-9 have steadily declined (Figure ). Patient subsequent had the disease resected (R0 resection) and is completing the remainder of the cycles adjuvantly with a plan for a total of 6 months of chemotherapy (12 cycles). Clinical course so far indicates both response to the treatment and tolerability despite the deleterious polymorphisms in UGT1A1 and DPYD and the implemented dose adjustments.
|
pmc-6249318-1
|
An 11 years-old African-American male presented to pediatric neuromuscular clinic for evaluation of gait abnormality. He had a history of gross motor delay since age 3 and was enrolled in both physical and occupational therapy. His mother noted frequent falls, particularly when running or getting onto the school bus, as well as chronic headaches and blurry vision. Previously performed neuropsychological testing showed a below average IQ and an MRI of the brain at age 3 was normal (Figure ). An MRI of the lumbosacral spine from age 5 was also reportedly normal. Prior laboratory evaluation, including CPK, ANA and Acetylcholine receptor antibodies, was normal. He had never had a formal eye exam. Family history was significant for a maternal great grandfather who required leg braces starting at age 6 (with removal around age 10), who also reportedly had a similar posture as the patient. There was also a family history of non-specific visual symptoms in multiple family members on his mother's side as well as an older sibling who previously had seizures. He was not of French-Canadian descent, was the child of a non-consanguineous conception and had two half-brothers and one half-sister, all of whom were alive and well aside from the aforementioned seizures. Both of his parents and all of his grandparents were African-American as well.
On examination, he had gaze-evoked nystagmus and saccadic dysmetria with undershoot saccades in all directions, prominent white striations emanating adjacent to the optic nerve withdistinct optic disc margins on fundoscopy (Figure ), and symmetric pupils with no afferent defect. Subtle choreiform movements were noted in the fingers with outstretched hands and end point tremor on finger to nose testing was present. In the lower extremities, there was increased tone of spastic nature. Patellar reflexes were brisk and ankle jerks were decreased with associated weakness. Cross adduction was present. His gait was wide based and staggering; he was unable to perform tandem gait testing. Spasticity with mild scissoring was apparent with casual gait testing.
Brain MRI revealed asymmetric volume loss within the superior and middle aspects of the cerebellar vermis relative to the inferior aspect (Figure ) and faint linear T2 signal hypointensities within the pons (Figure ), findings that have been shown to be associated with ARSACS (, ). Fundoscopic photography and Optical Coherence Tomography both demonstrated hypertrophy of the retinal nerve fiber layer and other retinal layers (Figures ), findings also observed in ARSACS (). Electromyography performed was abnormal for both sensory and motor components in multiple nerves tested, providing electrophysiological evidence for a sensory greater than motor axonal polyneuropathy.
Initial chromosome microarray then showed a 1.422 megabase loss in the 13q12.12 region (Figure ), of which there are 14 genes present. Three of these genes have autosomal recessive genetic conditions associated with them, including Limb-girdle muscular dystrophy type 2C (SGCG gene), ARSACS (SACS gene), and Combined oxidative phosphorylation deficiency 31 (MIPEP gene). Subsequent Next Generation Sequencing of these genes revealed that the patient had hemizygous, likely pathogenic variant in the SACS gene (c.11824dup), which was predicted to result in a frameshift mutation with premature protein termination (p.Met3942Asnfs*4). Taken together, these clinical and genetic findings are consistent with the diagnosis of ARSACS.
Current treatment is focused on symptomatic management and improvement of daily life. Gait stabilization with the wearing of ankle foot orthoses has been observed and he has been receiving scheduled botox injections to the bilateral hamstrings every 90 days with improvement in flexibility.
|
pmc-6249337-1
|
A 62-year-old woman (Figure , II-3) was admitted to the hospital for recurrent partial headache with weakness of one side and aphasia for about 45 years. In her first attack, the patient suddenly experienced an aura with visual disturbances which she described as increasing scotomata in the bilateral visual field. After a few seconds, the patient developed a serious headache, mainly located on the left side. After a few minutes, she presented a paralysis of the right side and speech difficulties accompanied by dizziness and vomiting. These symptoms resolved after about 2 h. After this initial onset, she had an attack nearly every 4–5 years, and the clinical presentations of her attacks were always similar to the first one. The duration of the aura symptoms and the migraine was typically 1–2 h but sometimes the migraine could last up to 4 days. Sometimes headaches occurred before the hemiplegia and aphasia. Each headache was accompanied by dizziness and vomiting but without loss of consciousness. In most attacks, this patient experienced additionally a flushing of the neck and face and felt that the skin temperature of this affected area was increased, but the temperature was never measured. These symptoms may be related to an extracranial vasodilation when a migraine attack occurred. She did not undergo regular treatment except for simple analgesics as a symptomatic therapy. Recently, her condition aggravated as the frequency of attacks increased from once every 4–5 years to once every 1–2 weeks which had a serious impact on her everyday life. Therefore, during a severe migraine attack, she visited our hospital. We reviewed her family history, and we found that three other subjects, her mother, brother, and nephew, had similar clinical symptoms (Figure ). Their presentations are as follows:
The proband's mother (Figure , I-2) died of uremia at the age of 72. According to her husband and children, she reported typical hemiplegic migraines since an age of 14 years with five attacks per year on average. The aura symptoms were similar to those in the proband, including bilateral visual symptoms (scotomata), speech difficulties, and hemiparesis.
The proband's 55-year-old brother (Figure , II-1) had first at the age of 15 headache attacks with nausea, vomiting, visual field defects, and one-sided motor weakness. Usually, these attacks last 5 h. The disease presentation was progressive with age.
The proband's nephew (Figure , III-1), a 25-year-old fitness coach, had first headache attacks with visual symptoms (scotomata) and lateralized motor weakness at the age of 13. Each attack lasts about 20 min.
After admission, her neurological examinations were unremarkable and brain magnetic resonance imaging (MRI) and Magnetic Resonance Angiography (MRA) showed no meaningful abnormalities (Figure ). Thus, the suspected diagnosis was transient ischemic attack (TIA). During her hospitalization, the patient had several migraine attacks that were characterized first by visual symptoms, then aphasia and right limb paralysis 10 min later, and finally severe headaches after 20 min. At that time, the neurological examination revealed: no loss of consciousness, motor aphasia, muscle strength 2 in the right limb, and normal findings in the examination of the residual nervous system. After about 1 h, the symptoms of the aura were relieved, while the headache lasted for about 1 day. However, the symptoms were not relieved after dual antiplatelet aggregation treatment, and transthoracic echocardiography and carotid ultrasound failed to identify any underlying cerebrovascular etiology. After careful consideration of all aspects, she was diagnosed with hemiplegic migraine. So, we conducted a genetic test on the patient and found a heterozygous point mutation (c.4495T>C) in exon 26 of the SCN1A gene. This mutation caused amino acid 1499 to change from phenylalanine to leucine (p. Phe1499Leu), which may cause the disease by affecting the SCN1A protein function.
To establish the diagnosis, we performed a genetic test on those family members to analyze for the presence of mutations in genes including CACNA1A, ATP1A2, and SCN1A related to FHM. We only found a gene mutation in SCN1A, but this mutation was detected in all affected subjects in this family (Figure ). Therefore, this patient was diagnosed with FHM3. She was discharged after receiving a health education on migraine attacks, which suggested her staying away from stress, bright lights, sleep disturbances, physical exertion, and alcohol consumption because these have all been reported as trigger factors in FHM (). Upon being discharged from the hospital, she had intermittently taken flunarizine capsules and rizatriptan benzoate tablets to prevent and control migraine attacks. After 6 months of follow-up, the efficacy of the drug was uncertain, because the frequency of headache attacks was not adequately reduced. After the low efficacy of her medication became clear, we consulted again the literature and consider now a trial with lamotrigine or acetazolamide ().
|
pmc-6249428-1
|
A 3-year-old boy was admitted to inpatient clinics with complaints of persistent diarrhoea and failure to thrive. He had watery, mucous, sometimes bloody defecation 3–4 times a day since 1 year of age. He was born via vaginal delivery at week 32 of gestation with birth weight of 2200 g. He had been investigated for chronic diarrhoea in a public hospital before admission to our department. Cystic fibrosis was excluded with negative sequence analysis. He had low complement 3 (C3) and C4 values with proteinuria. Kidney biopsy revealed minimal interstitial fibrosis. He was the second child of second-degree consanguineous healthy parents with three live births. The first male child and third female child were known to be healthy at that time. His paternal uncle had died in his second decade due to IgA nephropathy and chronic renal failure.
He showed failure to thrive (weight −2.03 standard deviation score (SDS), height −1.89 SDS, under the third percentile), multiple dental caries, coarse lung sounds and a 1/6 systolic murmur on his first admission. He had iron deficiency anaemia [haemoglobin (Hb): 8.5 g dl−1, mean corpuscular volume (MCV): 66 fl, iron: 16 µg dl−1, total iron binding capacity (TIBC): 268 µg dl−1, transferrin saturation: 5.9 %, ferritin: 7.9 g l−1), hypoproteinaemia and hypoalbuminaemia (total protein: 5.8 g dl−1, albumin: 2.9 g dl−1). C-reactive protein was 0.7 mg dl−1 (normal: <0.3 mg dl−1), and erythrocyte sedimentation rate was 40 mm h−1 (normal: <20 mm h−1). Stool examinations for lipid, blood, parasites and viruses were negative, but Salmonella enteritidis grew in stool culture. Thyroid hormones were within normal limits, except a mild thyroid-stimulating hormone (TSH) elevation [TSH: 6.4 µIU ml−1 (normal: 0.35–5.5)] and he had been followed for compensatory hypothyroidism before admission. He had non-nephrotic proteinuria [14 mg m–2 h–1 (normal: <4 mg m–2 h–1)]. Abdominal ultrasonography (US) was normal.
He had normal IgG and IgM levels, a complete IgA deficiency and low IgE level. C3 and C4 were under the lower limit of normal values (). Lymphocyte subgroups revealed a low percentage of B cells (CD19+ cells: 4.4 %) (). Specific antibody response for Hemophilus influenza was sufficient, whereas tetanus was absent. He had positive cytomegalovirus (CMV) DNA in serum (481 copies ml−1 by PCR) without clinical findings. Autoantibodies (antinuclear antibody, antithyroid peroxidase, antithyroglobulin antibodies) were negative while direct Coombs test was positive.
Endoscopic evaluation of the upper and lower gastrointestinal tract showed oesophagitis, nodularity and granulation of the duodenum, granulation and fragility of the caecum, and bleeding foci and microabscesses in the colon. Microscopy revealed intraepithelial increased eosinophilic infiltration and plasma cell infiltration in lamina propria of duodenum, irregular crypt structure, and increased eosinophilic and lymphocytic infiltration in lamina propria of colon linked to allergic/eosinophilic gastrointestinal disorder. Sulfasalazine and corticosteroids were prescribed for enteropathy.
He was discharged with preliminary diagnoses of IPEX syndrome, combined immunodeficiency and common variable immunodeficiency (CVID) with positive pathological findings of autoimmune enteropathy and nephropathy. During follow-up, enteropathy continued with decreasing IgG and increasing IgM levels suggesting immunoglobulin class switch recombination defects. CD40 molecule was positive in 98 % of B cells and CD40L on T cells showed the expected increase upon activation. Regular intravenous immunoglobulin (IVIG) replacement was started.
At the age of 5 years, he was hospitalized with pneumonia. He had growth retardation (weight −2.73 SDS, under 3rd percentile; height −1.21 SDS, 3–10 percentile), submandibular, cervical, axillary lymphadenomegalies reaching 2 cm, crackles in lungs and hepatosplenomegaly (spleen 5–6 cm, liver 3 cm below the costal margin) on physical examination. He had anaemia, eosinophilia (absolute eosinophil count: 1150 mm–3), hypogammaglobulinaemia and hypocomplementaemia. Tuberculin skin test and IFN-γ release assays were negative. In lymphocyte subgroup counts, the percentage of B cells was even lower than before (CD19 : 0.8 %) ().
Chest X-ray showed bilateral extensive infiltrations. Thorax computed tomography (CT) revealed extended nodules with irregular margins and calcifications suggesting granulomatous or infectious aetiology. Hepatosplenomegaly and hypoechoic nodules in spleen, bilateral supraclavicular and axillary lymph nodes reaching 3 cm (US), and retroperitoneal, mesenteric and inguinal microlymphadenopathies (CT) suggested malignancy. Bone marrow aspiration smear and biopsy showed a myeloid leukomoid reaction, supporting an infectious aetiology and excluding haematological malignancy. Lymph node excision biopsy showed non-specific reactive hyperplasia with findings compatible with immunodeficiency, such as regressive lymphoid follicular changes and decreased plasma cells.
He had recurrent infections and multi-system organ involvement such as enteropathy (with associated findings of failure to thrive, anaemia), granulomatous lung disease, nephropathy, non-malignant lymphoproliferation and hypothyroidism. Direct Coombs test positivity supported an autoimmune component of an immunodeficiency syndrome. Additionally, his elder brother (Patient 2), who was known to be healthy on first admission of Patient 1, had been followed with autoimmune lymphoproliferative syndrome (ALPS) in the public hospital for the last year.
Quantitative oxidative burst activity was normal, excluding chronic granulomatous disease. X-linked agammaglobulinaemia was unlikely, although B cell percentage was <1 % because of lymphoproliferation and measurable levels of IgG and IgM. Lymphoproliferation, positive Coombs test and findings of the sibling suggested ALPS but CD4-CD8-TCR α/β [double negative (DN)] T cells were in the normal range (0.39 %). Lymphoproliferation not associated with Epstein–Barr virus (EBV) and negative SH2D1A mutation ruled out X-linked lymphoproliferative syndrome. Most clinical and laboratory findings supported CVID as a diagnosis but even so, very early-onset disease and the presence of the other sibling pointed to a monogenic aetiology. Clinical phenotype of the affected two male patients strongly suggested IPEX syndrome but molecular analysis of the FOXP3 gene was negative.
Prophylaxis with antibiotics and antifungals was started for infection control. Antiviral treatment for cytomegalovirus (CMV) infection was used when necessary. In his 7-year follow-up he had numerous hospitalizations due to respiratory tract infections or findings associated with worsening enteropathy such as hypoalbuminaemia and electrolyte disturbances. Corticosteroids (doses of 0.3–0.5 mg kg–1 day–1) were used as immunsuppressive agents intermittently at 3–6 month intervals with a slight response. Subcutaneous immunoglobulin replacement therapy was started. He had no matched sibling donor and a matched unrelated donor search was initiated for haematopoietic stem cell transplantation (HSCT).
At the age of 9 years, he had clubbing and chronic lung findings. Chest X-ray showed bilateral extended coarse reticular changes and peribronchial thickenings (). Thorax CT revealed extended and severe bronchiectasis with thickened bronchial walls, some granulomatous nodules and mosaic appearence, compatible with granulomatous lymphocytic interstitial lung disease (GLILD) ().
His bone age was 5 years when he was 10 years old. Growth retardation got worse (weight −4.99 SDS, height −3.28 SDS, under 3rd percentile). Vitamin D insufficiency led to hyperparathyroidism, symptomatic hypocalcaemia and severe osteoporosis requiring aggressive calcium and vitamin D replacement [Ca: 5.4 mg dl−1, albumin: 2.7 g dl−1, parathyroid hormone (PTH): 83.41 pg ml−1, vitamin D: 11 ng ml−1). Autoantibodies to the thyroid gland (antithyroid peroxidase, antithyroglobulin antibodies) became positive on follow up but thyroid US and thyroid hormones were normal.
|
pmc-6249430-1
|
A 49-year-old woman was hospitalized in the University Hospital Halle/Saale, Germany, with an acute presentation of headache, discrete ataxia and impaired vision. No episodes of pyrexia were reported. Serum inflammatory markers were inconspicuous with only a slight leukocytosis (14.53 Gpt l−1). Cranial magnetic resonance imaging (MRI) revealed a contrast-enhancing lesion with surrounding edema in the left cerebellum hemisphere next to the cerebellar pedunculus (a, b). In addition, computed tomography (CT) showed a small hyperintense subpleural nodule in the right lower lung lobe (). To rule out malignancy the cerebellar lesion was surgically biopsied via a suboccipital craniotomy. A frozen section contained paucicellular glial tissue without signs of malignancy, purulence or specific infection (c, d). Postoperatively, the patient developed cerebral edema with displacement and compression of the fourth ventricle and the brainstem. Severe increase of intracranial pressure required suboccipital craniotomy and application of cerebrospinal fluid (CSF) drainage. A microbiological examination of the liquor was not carried out as there was no suspicion of an infection. Despite extensive supportive care the clinical condition did not improve and ten days after hospitalization the patient died. An autopsy demonstrated a purulent pneumonia with punctum maximum in the right inferior lung lobe. In addition, further processing of the cerebral biopsy was undertaken, including PAS and Grocott staining. These revealed the image of cerebral cryptococcosis with presentation of typical capsule, highlighted fungi next to a surrounding histiocyte-rich inflammation with abundance of foam cells and a rare lymphocytic infiltrate (a, b). The same pathogens were also seen in the inflamed pulmonary tissue (c, d). Cryptococcal DNA was amplified by a broad-range PCR assay targeting the ITS2 region of the ribosomal DNA. The amplicon was identified as C. gattii by LCD-Chip hybridization (LCD array fungi 2.1; Chipron). Natural reservoirs for C. gattii are found in Australia, Asia, Africa and some regions of America, including Vancouver Island which has been determined to be an endemic area []. In contrast, infection in Europe is rare, although C. gattii has been previously isolated in Greece, southern Italy and Spain []. When confronted with the autopsy results the relatives of the deceased mentioned that she spent her holidays on Vancouver Island two years prior her death. Tissue samples were transmitted to the Robert-Koch Institute (Berlin, Germany) where molecular pathogen analysis was confirmed by amplification of the IGS region of the ribosomal DNA with amplicon detection by LCD-Chip hybridization using a commercial system (Chipron) and ITS2 PCR with amplicon sequencing []. Subsequently in Nijmegen, the Netherlands, a standard multi-locus sequence typing analysis was performed [], which did not yield any PCR product due to the fragmented formalin-fixed paraffin-embedded (FFPE)-DNA. Therefore a FFPE-MLST scheme was developed to cover the most variable parts of each of the seven standard MLST-loci (). PCRs and sequencing were performed as described previously []. Using the FFPE-MLST it was determined that the involved cryptococcal strain was C. deuterogattii, formerly known as C. gattii genotype AFLP6/VGII. By using phylogenetic analysis, it was determined that this strain clustered within the clade of Vancouver-Island-outbreak-related C. deuterogattii strains (), which supports the earlier suggestion that the patient acquired the cryptococcal infection during her holiday to Vancouver Island.
|
pmc-6249761-1
|
A 31-year-old Caucasian female presented to the outpatient clinic five years after her last surgery complaining of a left upper quadrant abdominal mass which is painful on movement, the mass size increased gradually over the last 2 years. She had no fever, diarrhea/constipation or nausea/vomiting.
She had a history of LAGB 10 years ago. Five years later she had a revision surgery due to weight loss failure, the gastric band was removed and laparoscopic Roux-en-Y gastric Bypass was done in the same procedure. Her past medical history included hypothyroidism 13 years ago medically treated by a daily dose of L-thyroxine. She had no significant family history nor smoking.
On examination, the patient was afebrile. The abdomen was soft and non distended, the surgical scars were healed. A 4 × 4 cm, symmetric mass with normal overlying skin was found in the left upper quadrant. This mass was spherical, superficial, tender, firm, mobile and didn’t disappear by compression. There was no bruit or lymphadenopathy.
Laboratory findings including complete blood count, liver function tests, and renal function tests were within normal. The differential diagnosis was port site hernia or retained foreign body.
Further investigations included CT of the abdomen and pelvis with oral contrast revealed subcutaneous spherical foreign body (probably the port) with the connected tube extending 10 cm into the abdominal cavity (Fig. ). On exploration, the port with 10 cm of the connected tube was found and removed through a small incision without laparotomy. The patient had an uneventful recovery and was discharged on the same postoperative day. The patient expressed her happiness because minimally invasive surgery was done.
|
pmc-6249878-1
|
A 25 years old, married, para III, Ethiopian Somali woman presented with an insidious onset of lower abdominal pain, offensive vaginal discharge and intermittent fever of 1 month duration. She had associated anorexia, vomiting & episodic diarrhoea which were followed by progressive weight loss and drenching night sweats. Two weeks prior to her presentation she developed progressively increasing abdominal distension with urgency, frequency, dysuria and straining at micturition. The woman had smooth vaginal delivery at a health centre 2 months back and claimed to have uneventful pregnancy. She was lactating & didn’t see any menses after delivery. She had no cough and didn’t report any known medical illnesses. She lived with 2 relatives in the same room who were being treated for pulmonary tuberculosis 2 years ago. All her previous pregnancies and deliveries were uneventful. She was repeatedly treated with unspecified antibiotics at local health facilities with no improvement.
On Physical examination the woman was acutely sick looking. The pulse rate was 112 per minute; temperature 38 oc and she had pale conjunctive. The remarkable findings were on abdominal and pelvic examinations. Abdominal examination revealed distended abdomen with lower abdominal tenderness and rebound tenderness. There was a 14 cm by 12 cm sized, firm, tender, pelvic mass with limited mobility. Shifting dullness & fluid thrill were negative and bowel sounds were normal. Speculum examination showed hyperaemic otherwise normal looking cervix. Digital vaginal examination findings were: smooth & firm cervix; bulging pouch of Douglas; firm 18 cm by 18 cm sized pelvic right adnexal mass with adnexal and cervical motion tenderness.
Laboratory tests revealed anemia (Hgb = 9 g/dl), leukocytosis with left shift, raised ESR and Pyuria. Organ function tests, chest x-ray & plain abdominal films were normal. Ultrasound showed a hypoechoic, well outlined, thick-walled pelvic mass in the right adnexa extending to the pouch of Douglas with internal echoes (Fig. ). Doppler revealed normal flow & resistance pattern of ovarian vessels. The uterus was normal sized with thin endometrial slit. The conclusion was a right adnexal (ovarian) tumor with possible differential diagnosis of tubo-ovarian abscess.
The mother was counselled on the presumptive diagnosis and informed consent was obtained for emergency laparotomy which revealed matted omentum obscuring the pelvic cavity & filmy adhesions (involving the uterus, right adnexa, intestines and bladder). Careful dissection and adhesiolysis, revealed thin offensive fluid extruding from the right adnexa; right ovarian 14 cm by 14 cm sized cystic to firm mass located between the ovarian fossa & pouch of Douglas (Figs. and ). There was no grossly identifiable ovarian tissue. Both tubes appeared normal except for presumably oedematous serosal surface of the right fallopian tube. The uterus and appendix were normal in size & appearance. Procedure was completed after performing right oophorectomy (complete excision of the mass) and securing omental & peritoneal biopsies. Incision of the wall of the mass revealed thick (caseating) pus with no mass in the cavity of the sac. Postoperatively she was having recurrent high grade fever for more than 1 week despite potent antibiotics administration.
The histopathology examination revealed chronic inflammation with caseation and histocytes granuloma formation which was consistent with tuberculous lesion. But culture and immune-histologic analysis were not done because of facility constraints The woman was then put on anti-Tb regimen (category-I) containing INH, Rifampicin, Pyrazinamide and Ethambutol and showed dramatic improvement at her follow up visit after completing the intensive phase.
|
pmc-6249888-1
|
The patient was an 80 years old man whose previous medical record included diabetes mellitus type 2, atrial fibrillation, cerebrovascular disease, polymyalgia rheumatica and osteoporosis. His regular prescriptions included metformin, warfarin and prednisolone. He was admitted to hospital with a hematoma at his right thigh after a minor trauma. At clinical examination palpable splenomegaly at inspiration was detected. Standard peripheral blood tests revealed hemoglobin (Hgb) 10.3 g/dL (normal range 13.4–17.0), platelets > 2000 × 109/L (150–450), white blood cell count (WBC) 23× 109/L [–] and lactate dehydrogenase (LDH) 366 U/L (115–255). Microscopy of the peripheral blood smear revealed a leukoerythroblastic picture including nucleated erythrocytes and promyelocytes as well as myelocytes but no blasts. The bone marrow (BM) smear demonstrated increased cellularity with increased megakaryocytes and 4% myeloblasts; the BM biopsy confirmed this and showed in addition focal bundles of reticulin fibers and in addition proliferation of megakaryocytes with classic atypia, including small size and hypolobulation. There was reduced myelopoiesis, although without evidence of proliferation of immature cells (Fig. ). Mutational analysis for JAK2V617F derived from peripheral blood mononuclear cell (PBMC) was positive with an allele burden of 0.6%, and a real time polymerase chain reaction (RT-qPCR) detecting the most common BCR-ABL1 fusions; e13a2/e14a2/e1a2/e19a2, was negative. Hence, our patient fulfilled all WHO major criteria for a Ph− myeloproliferative neoplasia; namely primary myelofibrosis (PMF); with (i) megakaryocytic proliferation and reticulin fibrosis, (ii) the presence of JAK2 mutation and (iii) not fulfilling the criteria for other myeloid malignancies. In addition to all the five minor criteria were also fulfilled with (i) anemia, (ii) leukocytosis, (iii) palpable splenomegaly, (iv) increased LDH and (v) leukoerythroblastosis [].
Cytostatic treatment with hydroxyurea was initiated at a dose of 2500 mg daily. The dose was reduced after some weeks due to severe headache. During the next 6 months the platelet count was reduced by hydroxyurea, although with difficulties in achieving satisfactory platelet counts without imposing neutropenia as a side effect. A shift of treatment to anagrelide (1 mg/day) was attempted, however had to be disrupted due to unacceptable side effects with headache, heart palpitations and back pain.
Seven months after the diagnosis of PMF the routine peripheral blood smear showed an increasing blast percentage and flow-cytometric analysis verified 22% immature cells. However, a BM biopsy demonstrated only 7% blasts. The diagnosis of PMF was therefore maintained and hydroxyurea continued.
Six weeks later the patient was admitted to hospital because of increasing anemia (Hgb 6.7 g/dL), leukocytosis (25.2 × 109/L) and CRP 35 mg/L. Peripheral blood smear showed 43% myeloblasts, confirmed by flow cytometric analysis. BM biopsy demonstrated a hypercellular BM without organized hematopoiesis, absence of erythropoiesis and increased myelopoiesis with relatively few mature granulocytes, focal nodes of immature cells and blast cells and significantly increased amount of reticulin fibers (Fig. ). The findings were consistent with transformation from PMF to AML.
Surprisingly the cytogenetic analysis by conventional G-banding detected the Philadelphia chromosome with the translocation t(9;22)(q34;q22) in all ten metaphases analyzed. This was confirmed by BCR-ABL1 fusion in 57% of the cells by fluorescent in situ hybridization (FISH) analysis, (Fig. ) and to be the BCR-ABL1 e6a2 transcript variant by sequencing of positive product from reverse transcriptase PCR. RT-qPCR confirmed the existence of an e6a2 BCR-ABL1 transcript, with a BCR-ABL1/GUSB ratio of 69%. Retrospectively, the e6a2 transcript was also detected at the initial diagnosis of PMF, although only with a BCR-ABL1/GUSB ratio of 14% (Fig. ). The JAK2V617F mutation could not be detected at the point of AML diagnosis.
We started treatment with dasatinib 100 mg once daily combined with hydroxyurea (500 mg/day) for the first 22 days and valproic acid (300 mg + 600 mg/day) for the first 20 days []. Peripheral blood smears after 11 and 19 days showed no myeloblasts. The BCR-ABL1/GUSB ratio fell from 52 to 7.6% after 3 months (Fig. ). Because of increasing fatigability, the patient was referred to an echocardiography that showed a pericardial effusion of 1.8 cm at the level of the right atrium. This was regarded as an adverse effect of dasatinib [], and serous effusions trigged by dasatinib is suggested to be predictive for therapy efficiency in CML [, ]. Due to risk of recurrent pericardial effusion combined with the general condition of the patient dasatinib therapy was discontinued after a treatment period of approximately 4 months.
Five days after dasatinib discontinuation, treatment with imatinib 400 mg daily was started, and a repeated echocardiography 2 weeks later demonstrated reduction in the pericardial effusion to 1.0 cm. At his last visit 2 weeks after initiating imatinib the patient reported that he had gradually improved. He experienced two episodes of diarrhea, but no other side effects of imatinib. Peripheral blood test showed Hgb 11.5 g/dL, WBC 5.3 × 109/L, neutrophils 2.8 × 109/L, and platelets 161 × 109/L. He continued imatinib therapy for 6 months and had detectable although stable levels of BCR-ABL1/GUSB ratio measured by qPCR during this period (Fig. ). Thereafter the patient developed increasing abdominal pain and diarrhea. A CT scan demonstrated a tumor in the pancreatic head, radiological consistent with adenocarcinoma. The patient was considered inoperable and unable to tolerate chemotherapy, and the tumor was not biopsied. He continued the imatininb treatment for an additional period of few weeks and died shortly thereafter.
|
pmc-6249898-1
|
A 78-year-old Israeli man presented to our intensive care unit with fever, flaccid limb weakness, and dysarthria. On the morning of his admission he felt cold and weak. He awoke suddenly with vomiting, weakness of four limbs, and slurred speech. In the emergency room he had a fever of 39.2 °C, blood pressure of 166/118 mmHg, and heart rate of 91 beats per minute. Laboratory tests showed leukocytosis, mild thrombocytopenia, mild eosinophilia (700 cells per microliter), hyponatremia, acute kidney injury, hyperbilirubinemia, elevated liver enzymes (both hepatocellular and cholestatic enzymes), elevated international normalized ratio (INR), metabolic acidosis, and hyperlactatemia. More laboratory results are shown in Table . Whole body computed tomography (CT) and CT angiography showed atherosclerosis of the carotid arteries and severe degenerative vertebral discopathy, with no signs of cerebral ischemia and no evidence of spinal epidural abscess. There were small bilateral pleural effusions, ascites, and anasarca. A quick review of his past laboratory results showed long-lasting chronic eosinophilia (reaching 3000 cells/microliter a month before admission) and immunoglobulin E (IgE) level of 1600 kU/L (normal < 214 kU/L) 6 years before admission.
He was a retired lifeguard, and his past medical history included biologic aortic valve replacement 3 years earlier because of aortic stenosis, paroxysmal atrial fibrillation treated with apixaban anticoagulant therapy, an episode of atrial flutter treated with ablation, status post cerebrovascular accident with mild right hemiparesis, coronary artery heart disease and bypass grafting, congestive heart failure, well-controlled type 2 diabetes mellitus, peripheral vascular disease, arterial hypertension, bilateral knee replacement due to osteoarthrosis, spinal stenosis and chronic back and joint pain with recurrent corticosteroid local injections, benign prostatic hypertrophy, and asthma. A month earlier he underwent an inguinal hernia repair and 3 weeks prior to admission he received an inactivated influenza vaccine. He was born in Iraq and immigrated to Israel when he was 12-years old. He recalled only one international travel to Europe several years prior to admission.
Several possibilities were considered for this patient with fever and limb weakness. With regards to infectious diseases they included subacute prosthetic bacterial endocarditis with an embolic stroke, an infectious encephalitis (including herpes viruses, West Nile virus, sandfly encephalitis, Listeria monocytogenes rhombencephalitis), atypical bacterial infection (for example, Mycoplasma, Rickettsia), spinal epidural abscess, and non-infectious conditions such as post infectious/vaccine-related peripheral neuropathy, acute disseminated encephalomyelitis (ADEM), systemic vasculitis including eosinophilic granulomatosis with polyangiitis (Churg–Strauss syndrome), and an autoimmune state such as catastrophic anti-phospholipid syndrome. Blood cultures were taken and antibiotic treatment with ceftriaxone, ampicillin, vancomycin, acyclovir, and doxycycline was commenced. Our patient was admitted to an internal medicine ward and on the following day the neurologic signs resolved. On examination he was coherent, without dysarthria and he had only mild limb weakness. He was dyspneic and complained of abdominal pain. Liver and kidney functions as well as lactate levels, worsened. Repeated CT angiography of his abdomen showed no signs of mesenteric ischemia. He was transferred to the intensive care unit. A lumbar puncture was postponed because of worsening coagulopathy. Blood cultures (two out of four) were positive for S. pyogenes. Antibiotic treatment was switched to penicillin G, clindamycin, and intravenous immunoglobulins (IVIG) for presumed STSS. Repeated physical examinations failed to identify the source of the bacteremia. After 3 days his clinical state deteriorated. He complained of severe abdominal pain and profuse diarrhea, the confusion recurred, as well as dyspnea and restlessness. He had non-oliguric renal dysfunction. His Sequential Organ Failure Assessment (SOFA) score increased to 11 and he underwent mechanical ventilation. He received noradrenaline to maintain blood pressure (0.1 mcg/kg per minute). An electroencephalogram (EEG) showed triphasic waves compatible with encephalopathy. During the next few days the clinical and laboratory findings improved gradually, and he was extubated. Transesophageal echocardiography (TEE) showed no vegetations and antibiotic treatment was discontinued after 14 days. On day 12 of hospitalization the serology results from an enzyme-linked immunosorbent assay (ELISA; Scimedx corporation, Denville, NJ, USA) for S. stercoralis that was sent on admission, came back positive from the Israeli reference laboratory. A microscopic stool examination showed numerous motile larvae; stool real-time polymerase chain reaction (PCR) for S. stercoralis was positive. All other diagnostic tests were negative (Table ). Our patient was treated with ivermectin (200 mcg/kg). Urine was positive for larvae 8 days after treatment commencement. The treatment was continued for 2 weeks after repeated stool tests became negative; a total of 4 weeks of treatment. No side effects were noted and he was discharged for rehabilitation after 25 days of hospitalization. Repeated stool PCR for S. stercoralis after 10 weeks remained negative.
|
pmc-6249976-1
|
A 69-year-old Japanese man presented to our institution with decreased vision in his right eye. He had a medical history of stage 4, poorly differentiated, esophageal cancer that had been diagnosed previously via endoscopic biopsy. Positron emission tomography–computed tomography (PET–CT) revealed multifocal increases in fluorodeoxyglucose uptake into the esophagus, lung, liver, lumbar vertebrae, and mediastinal lymph nodes. The patient was treated with three cycles of fluorouracil (5-FU) and cisplatin (CDDP) chemotherapy as well as 30 sessions of radiation therapy (60 Gy) over approximately 6 weeks, three months prior to presentation.
Visual acuity was 20/200 in the right eye (OD) and 20/600 in the left eye (OS). The patient reported previously having a macular hole in the left eye but received no surgical intervention. Anterior segment examination was normal except for 2+ nuclear cataracts in both eyes (OU). No anterior segment inflammation was present in either eye. A dilated fundus examination revealed a veil-like vitreous opacity with white retinal lesions in the macula and periphery OD, consistent with a vasculitis or possible ARN (Fig. a). Although the view was limited due to the thick vitreous opacity, no obvious masses were detected in the retina or choroid. Fundus examination of the left eye was normal, except for evidence of the old macular hole with hard exudates along the superior temporal arcade (Fig. b, c). Given the patient’s history of metastatic esophageal cancer, differential diagnoses included acute retinal necrosis (ARN), chronic uveitis, and neoplastic disease. Due to the poor view and uncertainty regarding diagnosis, surgical intervention was scheduled two days later.
A combined cataract extraction and 25 gauge pars plana vitrectomy was performed. Phacoemulsification was followed by intraocular lens implantation. Next the vitreous opacity was removed and submitted for polymerase chain reaction (PCR) testing and cytologic analyses. A peripheral tractional retinal detachment was also detected during the surgery. Therefore, a silicone oil tamponade was selected. In consideration of the possible ARN diagnosis, the patient was started on systemic antiviral (250 mg/day intravenous acyclovir for 3 days), anti-inflammatory (20 mg/day oral prednisolone for 3 days), and anti-coagulant (100 mg/day biaspirin for 3 days) therapies immediately following surgery with cooperation with the internal medicine department.
PCR testing from vitreous sample was negative for toxoplasma, cytomegalovirus, herpes simplex virus, varicella-zoster virus, bacteria, and fungi. However, the vitreous sample did contain scattered, undifferentiated malignant cells (Fig. a). Further immunohistochemical examination was not performed due to the small sample size. Vitreous specimen findings matched those of the primary esophageal tumor biopsy (Fig. b). Given the presence of a central nervous system metastasis, magnetic resonance imaging (MRI) of the head was performed. No evidence of further central nervous system malignancies was found. However repeat PET–CT revealed widespread systemic metastases.
Ultra-wide view fundus imaging revealed multifocal white intraretinal lesions in the macula and periphery two months after surgery (Fig. ). Optical coherence tomography (OCT) through these white opacities displayed hyper-reflective inner retinal lesions with no choroidal involvement, suggestive of retinal metastasis (Fig. a, b). Visual acuity was 20/200 OD and the retina remained attached under the silicone oil. No further intervention was provided by our department due to the poor prognosis. The patient was maintained on palliative care and passed away three month later due to multiple organ failure, secondary to his malignancy.
|
pmc-6249998-1
|
A 17-year-old man was presented to the emergency department with a sudden nonmassive hemoptysis. He had no relevant prior medical history and did not consume alcohol, tobacco, or drugs. On arrival at the emergency room, he was hemodynamically stable, afebrile, and neurologically intact with no need for supplemental oxygen. On physical examination, a stony nodular mass of approximately 0.5 cm on the upper pole of the right testicle which is not painful on palpation was observed. No adenopathies were found. Imaging studies showed multiple round multilobed heterogeneous hypodense lung lesions with a stained glass appearance and poor central enhancement after administration of contrast medium. These were bilateral and randomly distributed; some were subpleural with the appearance of “cannonballs” (). The most representative was seen at the level of the upper segment of the right lower lobe, measuring 5.9 × 5.7 × 5.6 cm (). At the level of the vertebral body L4, a large adenopathy 4.7 × 3.1 cm with a hypodense center indicative of necrosis was found. This adenopathy compressed the inferior vena cava without compromising its lumen. The right testicle had a heterogeneous appearance with calcifications inside. Serum levels of β-hCG were 222,493.21 IU/L, AFP 1.56 ng/mL, and DHL 457 IU/L. A brain MRI showed no relevant alterations. The patient underwent radical right orchidectomy with no complications. A biopsy revealed a mixed multifocal germ-cell tumor 0.3 × 0.2 cm, limited to the right testicle with an embryonic component of 90%, a mature teratoma component of 5%, and a seminoma component of 5%. There was no involvement of the spermatic cord or lymphovascular invasion. After assessment by a multidisciplinary oncology team, it was decided to start a chemotherapy (CT) regimen based on bleomycin, etoposide, and cisplatin for four cycles due to poor-risk characteristics. The patient received his first cycle in a hospital with an adequate clinical response and a favorable tumor marker decline rate. After surveillance, he was discharged to continue ambulatory treatment. At 5 months of follow-up, the patient is alive, receiving second-line CT due to persistent pulmonary disease.
|
pmc-6250006-1
|
A 21-year-old previously healthy woman, a college student, was on a waterslide at an amusement park, when her left arm became caught between the side of the waterslide and adjacent rocks. She sustained a forceful twisting and loading injury to her left upper extremity which resulted in a severe pain and deformity to her left arm, forearm, and wrist. She was brought by ambulance to our emergency department. On physical exam, her injuries were closed, her arm and forearm compartments were soft, and she was neurovascularly intact. Radiographs of the humerus, forearm, and wrist demonstrated a left distal third humeral shaft fracture () as well as a left Galeazzi fracture, with a midshaft radius fracture and disruption of the distal radioulnar joint (Figures and ). She was placed in a well-padded long arm posterior plaster splint extending from the posterior shoulder to the fingers, with an additional coaptation component to the splint to stabilize the humerus fracture.
Within 24 hours of admission, the patient underwent open reduction and internal fixation of both her humeral shaft and radial shaft fractures. The decision was made to reduce and fix the humeral shaft first. The humeral shaft fracture was amenable to reduction and fixation with an extraarticular locking plate through a posterior approach with the patient in the lateral decubitus position. Because of the manipulation of the forearm, which may be required during reduction and plating of the humerus, we chose to avoid fixation of the radius and the possible transfixion of the distal radioulnar joint until after the operation on the humeral shaft was completed.
The surgery was performed under general anesthesia. The patient was positioned on a radiolucent table in the lateral decubitus position with the left arm which was supported over a foam roller. The left upper extremity was then prepped and draped, and 2 grams of cefazolin was administered prior to incision. The Gerwin-Hotchkiss approach was used to access the posterior half of the distal humerus and radial nerve []. A longitudinal incision was made in the midline of the posterior aspect of the arm, and the deep fascia of the arm was incised. After identification and protection of the ulna nerve, the entire triceps mechanism was retracted medially to identify the main trunk of the radial nerve proximal to its point of entry deep to the intermuscular septum. The intermuscular septum was divided distally approximately 3 centimeters, and then, the medial and lateral heads of the triceps muscle were then mobilized from lateral to medial along with the radial nerve to expose the posterior humeral shaft (). After reduction, a 3.5 mm extraarticular distal humerus plate (Depuy Synthes, West Chester, PA) was used for humerus fixation (). After fluoroscopic confirmation of reduction and fixation, the wound was closed and dressed. The patient was then positioned supine on the radiolucent table with the left arm extended over a hand table attachment. The volar Henry approach was performed to access the radial shaft fracture. The fracture was anatomically reduced and plated using a prebent 3.5 limited contact dynamic compression plate. Anatomic reduction of the radius with restoration of the radial bow reduced the distal radioulnar joint. The distal radioulnar joint remained reduced and stable through full pronation and supination. Therefore, an open reduction was not indicated. Subcutaneous tissue and skin were closed, and a dry sterile dressing with well-padded long arm splint was applied.
The patient's postoperative course was unremarkable. The splint was removed at one week, and gentle elbow and wrist active and passive range of motion exercises were begun. At 12 weeks follow-up, radiographs demonstrated healing of the humeral and radial shaft fractures. At this time, elbow, forearm, and wrist strengthening exercises were performed for 6 weeks. At final follow-up 1 year postoperatively, radiographs demonstrated healed humeral and radial shaft fractures in anatomic position with stable reduction of the distal radioulnar joint (Figures –). The patient is pain-free and has full range of motion (0–135 degrees flexion, 90 degrees of pronation and supination, and 85 degrees of wrist flexion and extension) and excellent clinical function (Figures –).
|
pmc-6250015-1
|
A 48-year-old female with a history of hypertension and CAD S/P left circumflex stent many years ago who presented to our facility with persistent crescendo angina for which decision was made to proceed with LHC. A micropuncture needle was used to obtain femoral access after fluoroscopy was used for anatomical localization of the CFA. A 6 F slender sheath was inserted and flushed. The cardiac catheterization showed no significant CAD with a patent stent, so it was decided that there is no further intervention needed. At the end of the procedure, it was suggested to use a closure device, so femoral angiogram was done at the end to assess the arteriotomy site which showed that the stick was high and the tip of the sheath was about to come out of the CFA (); at the same time, it came into our minds that the sheath could be passing through the IEA by sticking the U portion of the IEA, but due to the high risk, a wire was passed through the sheath in order to secure access (). Immediate access was obtained through the contralateral groin () then a balloon over the wire was passed beyond the original sheath tip (), and then the sheath was slowly pulled back while contrast was injected. Angiogram showed that the sheath was inserted through the U-shaped portion of the IEA () and that the IEA had no dissection nor laceration. In the end, a closure device (Mynx) was applied to the access site and hemostasis was achieved. The patient was followed in the hospital and discharged home with no complications. The patient was seen in the clinic with no complications.
|
pmc-6250020-1
|
An 8-month-old female infant had coronary reimplantation at age 3 months for ALCAPA. Postsurgical ejection fraction showed early improvement with subsequent deterioration. A diagnostic left heart catheterization performed as part of a heart transplant evaluation revealed severe ostial stenosis of the LMCA. She was referred for PCI of the left main coronary artery to relieve her heart failure and preempt transplant. Her physical exam was significant for congestive heart failure and failure to thrive. The patient's echocardiogram showed markedly depressed left ventricular function. A cardiac computed tomography angiography (CTA) and initial diagnostic nonselective root aortogram demonstrated stenosis of the LMCA at the site of ALCAPA reimplantation. Selective left coronary angiogram revealed severe kinking of the reimplanted LMCA at the ostium ().
The procedure was performed in the Pediatric Cardiology interventional suite after extensive discussion and planning with Pediatric and Adult Interventional Cardiology, Pediatric Cardiac Anesthesia, Pediatric Cardiothoracic Surgery, and Pediatric Cardiac Radiology. General anesthesia and a femoral arterial approach were utilized. An ascending aortic root angiogram was obtained in 2 planes to assess the ostial left main stenosis. Due to the small size of the infant aorta, a 6 Fr JR-4 guide was reshaped to engage the left main coronary artery. A BMW wire was used to cross the lesion. Since the infant left main coronary artery was small but was expected to grow with age, a somewhat larger (3.0 × 8 mm Vision bare metal) stent was carefully implanted in the proximal LMCA at less than nominal pressure to avoid distal dissection. A poststent angiogram showed that the stent had moved during implantation and missed the ostium with residual stenosis of the LMCA origin. Hence, a 3.5 × 8 mm Vision bare metal stent was placed into the LMCA ostium overlapping with the previous stent distally and protruding 1-2 millimeters in the aorta proximally. The ostium and aortic overhanging portion of the stent were postdilated producing proximal flaring. The final angiogram confirmed excellent stent position and normal flow ().
The patient tolerated the procedure well and was discharged home on dual antiplatelet therapy (DAPT) with aspirin and clopidogrel one day after PCI. She was followed in Cardiology clinic post-PCI and noted to have no change in her ventricular function. Nevertheless, she continued to do well clinically until six months post-PCI, at which time she demonstrated failure to thrive and required admission for initiation of continuous milrinone infusion. The left main stent was widely patent with normal Doppler flow signals as visualized by echocardiography (). She was listed as status 1A for orthotopic heart transplantation (OHT) and underwent transplantation one year post-PCI, at age 20 months.
|
pmc-6250021-1
|
A previously healthy 60-year-old male was referred to the outpatient clinic due to atrial fibrillation. The patient reported pain in the lower left leg for 3 weeks followed by right-sided chest pain and dyspnea for 2 weeks. Transthoracic echocardiography (TTE) revealed a dilated right atrium (RA) with a large longitudinal thrombus (1–1.5 cm × 15–20 cm) fluctuating through the tricuspid valve (). The patient was stable and had no signs of right or left ventricular strain. Treatment with rivaroxaban 15 mg × 2 was initiated, and he was admitted to our center with suspected multilevel VTE: deep venous thrombosis (DVT), RA thrombus, and acute pulmonary embolism (PE). Computed tomography confirmed PE in the lower right pulmonary artery with associated pleural effusion. TTE and transesophageal echocardiography (TEE) confirmed the RA thrombus. Ultrasound revealed a large DVT in the left femoral vein stretching from the popliteal to the iliac vein. The patient was switched from rivaroxaban to unfractionated heparin (UFH) 5000 IE bolus followed by infusion starting at 1000 IE/hour and monitored by APTT. APPT remained in the lower range (maximum 77) treatment despite increasing doses of UFH to a maximum dose of 1900 IE/hour. After 3 days of UFH treatment, there was no regression of RA thrombus on TTE. The thrombus appeared to be attached in a thin fibrotic pedicle to the area between the superior vena cava and RA (). No persistent foramen ovale or atrial septal defect was found. Due to the large size and thin attachment, the risk of a possibly fatal PE was considered significant. As there were no regression in thrombus despite 7 days of anticoagulation treatment, it was decided to refer the patient for catheter-based embolectomy using the AngioVac system.
Preprocedural planning included a new ultrasound of the lower extremities that confirmed regression of thrombus in the lower veins bilaterally. This allowed for a femoral venous-venous access. The procedure was performed in a hybrid suite with a multidisciplinary team from interventional cardiology and thoracic surgery enabling fast conversion to extracorporeal circulation and surgical embolectomy if needed. The patient was placed in general anesthesia, and the procedure was guided by fluoroscopy and continuous TEE. A 26F dry-seal sheath (Gore Medical®) was placed in the right femoral vein to accommodate the AngioVac cannula and an 18F reinfusion cannula in the left femoral vein. A venous sheath was placed in the left external jugular vein to allow for conversion to a jugular approach, insertion of an adjunctive catheter, or a temporary v. cava filter if needed. Furthermore, a 6F sheath was placed in the right femoral artery allowing easy conversion to venous-arterial bypass.
The catheter was placed in the inferior vena cava. The funnel-shaped tip was then opened, and the centrifugal pump started. Using a flow of 3.5 L/min, the catheter was slowly moved towards the RA, and part of the thrombus was sucked into the tip. The solid thrombus occluded the catheter and stopped the flow completely. With the vacuum maintained, the occluded catheter was removed from the patient, and the thrombus was removed from the catheter (). The catheter was reintroduced to the RA, and this time thrombus material was sucked out and into the filter (). A small thrombus of 5 × 8 mm remained attached despite significant suction (). Sheaths were removed and venous access closed by percutaneous suture and the arterial access by Angio-Seal®. The thrombus fragments removed by the procedure measured a total of 15 × 1 cm and consisted of heterogeneous solid older thrombus material (
), which was confirmed by the pathologist after the procedure.
The patient recovered well after the procedure. He was treated with low molecular weight heparin (7500 IEx2) and was discharged 7 days postprocedure to follow-up in the outpatient PE clinic.
|
pmc-6250033-1
|
A 65-year-old man with a 9-month history of intermittent fever and pain in both lower extremities was admitted to our institution for distortion of commissure and numbness of the left upper limb. Physical examination revealed mild left facial paralysis, mild left hemiparesis, hypoalgesia of the left upper limb, and a fever of 38.5°C. Magnetic resonance imaging (MRI) of the head showed hyperintense signal intensity on diffusion weighted imaging or T2-imaging in the right centrum semiovale, and lacunar lesions in the left hemisphere (Figures and ). A transesophageal echocardiogram revealed moderate regurgitation associated with large mobile vegetations on the aortic valves, measuring 14 by 6mm, mild regurgitation of mitral and tricuspid valves, enlargement of the left atrium, dilatation of the ascending aorta, and decrease in left ventricular diastolic function. Lab results were as follows: Anti-nuclear antibody (-), ANCA spectrum (-), Parasite antibody (-), T-spot (-), and Fungal D dextran assay (-). After treatment with aspirin and atorvastatin, the patient recovered quickly, and neurological symptoms resolved.
On day 7 of admission, the patient developed signs of unconsciousness and seizure like jerking in the limbs. Electroencephalogram (EEG) was normal after seizure like jerking. MRI of the head showed acute and subacute strokes in the brain (Figures and ) and a flow void in the left hemisphere (). Magnetic Resonance Angiography (MRA) did not show any abnormalities in the intracranial arteries (). The computed tomography (CT) scan of chest, abdomen, and pelvis revealed that the solid tumor can be ruled out in this patient. Cerebral embolism was diagnosed as the most likely etiology of multifocal infarcts. Blood culture testing was conducted 3 times after admission but produced negative results. Infective endocarditis was diagnosed clinically according to the Duke criteria (one major and 3 minor) []. The major criteria for this patient were evidence of endocardial involvement with positive echocardiogram, and the minor criteria were the following: predisposing factor (prior antibiotic therapy), fever more than 38°C, and embolism evidence. This patient has received intermittent antibiotic therapy with amoxicillin and cephalosporins in the last 9 months. According to the principle of treatment for blood culture-negative endocarditis and the comparative efficacies of imipenem/cilastatin and vancomycin on ESBL producing Escherichia coli induced endocarditis [, ], the patient continued to receive antibiotic treatment with imipenem/cilastatin. It was also recommended to perform surgical treatment with aortic valve replacement as soon as possible. On day 11 of admission and before cardiac surgery, the patient developed signs of transient unconsciousness again. EEG was not performed immediately. With additional symptoms of aphasia and left limb weakness, a CT scan revealed high density nodules with surrounding edema in the right frontal-parietal region and a low density shadow in the right parietal lobe (Figures and ). During this period, the patient's body temperature fluctuated between 36.5 and 38.4°C. We presumed the abnormal in CT image may be intracranial mycotic aneurysm and brain abscess according to the history and diagnosis of this patient.
On day 12 of admission, aphasia, left limb weakness, positive bilateral Chaddock sign, and a fever of 38.6°C were presented in this patient. In addition, a pulsatile mass was felt in the left posterior leg. Doppler ultrasound revealed a pseudoaneurysm measuring 32 by 30 mm in the left posterior tibial artery. Prolonged blood incubation was conducted another 3 times in this period, and the results remained negative. On day 20 of admission, the patient's condition suddenly deteriorated. He developed signs of confusion, and his gaze became fixed to the right side. Contrast-enhanced CT revealed high density nodules in the left frontal-parietal region and a ring-enhancing nodule in the right parietal lobe (Figures –), suggesting the presence of a brain abscess. CT angiography showed an aneurysm, measuring 8 by 9mm of a cortical branch of the left middle cerebral artery (Figures –). Then, the patient was discharged to home hospice care as family wishes. On follow-up, the family informed us that the patient had died at home one week after discharge.
|
pmc-6250038-1
|
A 75-year-old man was admitted to our hospital due to stable AP. Coronary artery bypass grafting (CABG) had been performed 15 years earlier. The left internal thoracic artery (LITA) and SVG were anastomosed to the left anterior descending artery (LAD) and right coronary artery, respectively. He also had diabetes, hypertension, and hemodialysis.
On coronary angiography, the right coronary artery and LAD were totally occluded. There was no significant stenosis in the left circumflex. Regarding the bypass graft, the LITA-LAD was patent but the SVG had significant stenosis at the proximal site (). Therefore, the SVG lesion was considered to be the culprit lesion for AP.
The SVG stenosis appeared to be a thrombotic lesion on angiography, despite the presence of stable AP. To confirm the lesion characteristics, we performed optical coherence tomography (OCT). The OCT findings also suggested a red thrombus with attenuation (). However, nodular calcification was also suspected, as there were calcifications around the lesion. Therefore, intravascular ultrasound (IVUS) was also performed to distinguish the red thrombus from the nodular calcification. As protruding calcification was detected by IVUS (), the lesion was judged as not the red thrombus but the nodular calcification. There were no diffuse degenerative plaques at the culprit lesion according to the OCT and IVUS findings.
Rotational atherectomy was considered for the treatment of this focal and protruding calcified lesion, although the use of a rotablator for a diffuse degenerative SVG lesion is basically contraindicated. shows the OCT findings preablation, and Figures and show the postablation OCT findings using 1.75 and 2 mm rotablator burrs, respectively. After ablation with a rotational atherectomy device, predilation with a scoring balloon (NSE 3.0 × 13 mm, Goodman Co., Ltd.) and stenting (Promus 3.5 × 16 mm, Boston Scientific) were performed. A well-apposed and expanded stent was confirmed based on the poststenting OCT findings (). The nodular calcification in the SVG was successfully treated by PCI without any complications ().
|
pmc-6250446-1
|
An 81-year-old man was brought to the emergency department because of conscious disturbance for 2 days. Upon arrival, his vital signs were as follows: body temperature, 37.9°C; blood pressure, 83/45 mm Hg; heart rate, 71 bpm, and Glasgow coma scale score, 9 (E3V3M3). According to his daughter, he had a history of hypertension and diabetes, with good compliance to medications. He had no history of recent trauma. Recently, his family also observed slurring of speech and easy choking. These physical examination findings were unremarkable. Blood examination, including complete blood count, renal and liver functions, electrolyte, and cardiac enzyme, revealed no elevation of leukocytosis or C-reactive protein level, normal liver function and cardiac enzyme, impaired renal function (creatinine, 2.71 mg/dL), no obvious electrolyte abnormality, and no acidosis. Twelve-lead electrocardiography revealed sinus rhythm with a first-degree atrioventricular (AV) block. Chest radiography revealed mediastinal widening (Fig. ). Blood pressures obtained from 4 limbs showed no significant differences. Subsequently, brain computed tomography revealed no obvious intracranial lesion. A neurologist was consulted, and a recent ischemic stroke could not be ruled out; thus, admission for further examination was suggested. His blood pressure improved after hydration with normal saline. While in the observation area, his systolic blood pressure decreased to <90 mm Hg and he showed bradycardia, and 12-lead electrocardiography revealed an AV block and long pulse (Fig. ). Atropine was prescribed, and his blood pressure was elevated for a few minutes but subsequently decreased; thus, dopamine was administered for the shock status via a right neck central venous catheter. Contrast-enhanced chest computed tomography revealed no evidence of aortic dissection. Another family member reported a history of lithium intake for bipolar disorder for >30 years. Blood examination revealed a lithium concentration of 2.65 mEq/L (normal treatment range, 0.5–1.2 mEq/L). Subsequently, a nephrologist was consulted, and emergency hemodialysis was indicated; hence, the patient was transferred to the intensive care unit for further care. His lithium level gradually declined after the hemodialysis, and his blood pressure improved subsequently. He was transferred to the ward after 4 days because of stable hemodynamic status. His consciousness level gradually improved in the ward. He was discharged 9 days later in a stable condition. Neither the patient nor his family reported a history of lithium overdose after discharge because the physician used another drug to control the patient's bipolar disorder.
|
pmc-6250448-1
|
A 25-year-old, gravida 1, para 0, woman underwent amniocentesis for cytogenetic and single-nucleotide polymorphism (SNP) array analysis at 18 weeks of gestation because of the increased Down syndrome risk of 1/13, calculated from a low maternal serum alpha fetoprotein (AFP) level of 0.820 multiple of median (MoM), a low uE3 level of 0.178 MoM, and a high human chorionic gonadotropin (hCG) level of 4.574 MoM in the second trimester. Meanwhile, 20 weeks’ sonography findings indicated the abnormalities of single ventricle in intracalvarium, thalmus partially fused, and polycystic kidneys (Fig. ). She and her husband were nonconsanguineous and healthy. There was no family history of diabetes mellitus or congenital malformations. The mother denied any exposure to alcohol, teratogenic agents, irradiation, or infectious diseases during this pregnancy. The study protocol was approved by the Ethics Committee of the First Hospital of Jilin University, and written informed consent was obtained from the couple.
|
pmc-6250449-1
|
A 5-year-old boy with spleen enlargement as the initial presentation was admitted to our hospital in July 2016 and diagnosed with chronic myelogenous leukemia without family-related genetic history (Fig. A–D). After the diagnosis of the disease, the family members gave up treatment and regular re-examination was recommended, requiring discharge. Eight months later, the patient was admitted to our hospital with a headache but no fever or weight loss. There was no obvious abnormality on brain magnetic resonance imaging examination (Fig. A). Ultrasonography revealed multiple enlarged lymph nodes in the neck, armpits, groin, and umbilicus, and the liver and spleen were slightly enlarged.
Initial examination of peripheral blood counts showed white blood cells 19.99 × 109/L (normal: 4–10 × 109/L), hemoglobin 130 g/L (normal: 110–160 g/L), platelets 273 × 109/L (normal: 100–300 × 109/L). Bone marrow aspirate smears revealed active hyperplasia of bone marrow, and the ratio of G/E (granulocytes to erythrocytes) was 12.91:1. The proportion of granulocyte was increased, accounting for 77.5%, and the proportion of neutrophils and the following stages of cells were increased (Fig. B).
Bone marrow immunophenotyping found that lymphocytes accounted for around 7.5% of the nucleated cells, a significantly reduced proportion. The original region cells accounted for about 0.5% of the nucleated cells and were scattered. Mononuclear cells accounted for about 3.5% of the nucleated cells, indicating phenotypic maturation. Granulocytes accounted for about 85.5% of the nucleated cells, a significantly higher proportion. Cerebrospinal fluid immunophenotyping showed that the original cell distribution area contained abnormal cell populations, accounting for about 85.5% of nucleated cells, with expressions of HLA-DR, CD13, CD19, CD33, CD34, CD38, CD58, CD117, CD123, TdT, and partial expression of CD10 (Fig. C). No abnormal signals of ETO/AML1, MLL, PML/RARA, and CBFβ detection sites were detected by fluorescence in situ hybridization (Fig. D). Fusion gene detection showed that the BCR/ABL1 (p210) fusion gene was positive and with high copy rate (Fig. E). A chromosome karyotype analysis showed 46, X, Y, t (9;22) (q34/q11) (3)/46, XY (2) (Fig. F).
The child was diagnosed with chronic myeloid leukemia extramedullary blast crisis presenting as CNS leukemia without blast crisis in bone marrow. Extramedullary blast crisis of CML is defined by infiltration of leukemic blasts in areas other than bone marrow, which has been reported in only 4% to 16% of CML cases during the disease Course.[
|
pmc-6250482-1
|
A 25-year-old female with poorly controlled diabetes mellitus was referred urgently to plastic surgery for possible necrotizing soft-tissue infection of her left orbitomaxillary region. Seven days prior, the patient had been admitted to hospital for a suspected bacterial sinusitis (Fig. ) and diabetic ketoacidosis. Following stabilization, the patient was discharged on oral doxycycline. The patient returned to hospital with 2 days of worsening left facial pain, left facial droop, profound edema, and grayish discoloration to the skin to the left orbital region.
At time of plastic surgery assessment, all vital signs were within normal limits, with no evidence of fever. Marked left facial edema, erythema, and an area of grayish skin involving the left face and ear were present. Cranial nerve examination demonstrated a left-sided unilateral facial nerve palsy and lack of left trigeminal nerve sensation (V1-2) The left neck was tender, with palpable cervical adenopathy. Left ear examination revealed a thickened erythematous tympanic membrane with fluid in the middle ear. There were no signs of nasal mycosis or invasive fungal rhinosinusitis on nasal endoscopy. Aside from preseptal cellulitis and facial nerve paralysis, left ocular examination revealed no abnormalities in vision or extraocular motion. Contralateral head and neck examination was within normal limits. Laboratory investigations revealed leukocytosis (13.7 × 109/L, elevated blood glucose (20.3 mmol/L) and diabetic ketoacidosis. Computed tomography scan showed nonspecific subcutaneous tissue stranding with no subcutaneous gas or localized collections. Maxillary sinusitis was improving, when compared with imaging from her prior admission.
The patient was transferred to the operating room for urgent surgical exploration by the plastic surgery team. Thrombosis of the superficial temporal and supraorbital arteries with dry necrosis in the vascular territory supplied by these vessels was present (Fig. ). Intraoperative cultures for anaerobic and aerobic bacteria, acid-fast bacilli, and fungal organisms all demonstrated no growth.
The patient returned to the operating room for 11 debridements for progressing left facial necrosis (Fig. ) over the following 6 weeks. The extent of the debridement required collaboration with an otolaryngologist and ophthalmologist for 2 of these debridements. Numerous repeat cultures were negative, with eventual diagnosis being made on tissue biopsy, positive for fungal hyphae, and polymerase chain reaction, confirming a diagnosis of orbitomaxillofacial mucormycosis with Rhizopus oryzae approximately 2 weeks after presentation.
Due to continued tissue necrosis adjunct measures were implemented: the wound was irrigated with amphotericin B deoxylate (0.5 mg/ml) intraoperatively and dressed with wet to dry dressings soaked with amphotericin B deoxylate (0.5 mg/ml) 4 times daily, with exclusion of the exposed middle ear. Intravenous amphotericin B liposomal injection at 10 mg/kg was used for systemic rhinomucormycosis coverage. Additionally, hyperbaric oxygen therapy was instituted. A total of 30 dives at 2.5 atmospheres for 2.5 hours each were planned. However, hyperbaric oxygen therapy was discontinued after 3 sessions due to left sided mandibular pain and patient intolerance.
Vascular thrombosis progressed to involve the entire left external carotid artery and all terminal branches. Final soft-tissue deficit included the left middle ear (tympanic membrane and ossicles), large portion of the external ear, temporal bone and facial nerve, parotid gland, mastoid sinus, maxillary sinus, ethmoid sinus, sphenoid sinus, upper eyelid and brow, facial muscles, superior oblique muscle, trochlea, overlying facial muscles, subcutaneous tissue and skin. Hospital stay was complicated by acute renal failure leading to anuria and volume overload that required hemodialysis, and ongoing volatile glucose control. The patient was managed on the Burn Unit with assistance from infectious disease, nephrology, and internal medicine. Reconstruction with an anterolateral thigh flap and skin graft was used to cover the large remaining soft-tissue deficit, with a plan for secondary facial reanimation, bone anchored hearing device, and levator reconstruction (Fig. ). Due to the extensive soft-tissue involvement, the descending branch of the lateral circumflex femoral artery and vein were anastomosed to the superior thyroid artery and vein at the recipient site. A full-thickness skin graft was used to cover a portion of the superior eyelid.
|
pmc-6250547-1
|
A 20-year-old male presented with skin ecchymosis of trunk and lower limbs for 10 days. Routine inspection revealed white blood cell count (WBC) 47.7×109/L in blood and 83% blasts in bone marrow. The immunophenotype of leukemia presented abnormal lymphocyte populations with CD2, CD3, CD4, CD5, CD7, CD8, CD10, CD38, Ccd3, TdT, and polymerase chain reaction (PCR) detected NOTCH EXON26 and FBXW7 EXON9 missense mutations. He was diagnosed with adult acute T-lymphocytic leukemia.
In September 2017, the patient started with hyper-Cyclophosphamide, Vincristine,Adriamycin, Dexamethasone (hyper-CVAD) regimen chemotherapy (methotrexate, pirarubicin, vincristine, and dexamethasone alternating with methotrexate and cytarabine) for 3 courses of chemotherapy. In December 2017, the patient developed intermittent distending pain in the right temporal region and blurred vision and inarticulate speech. At that time, the results of computed tomography (CT) and magnetic resonance imaging (MRI) were normal. In addition, blast-like cells were not found in bone marrow smear, and the result of cerebrospinal fluid was also negative. Still, the patient was considered as CNSL due to obvious symptoms and the patient immediately received 2 courses of chemotherapy with hyper-CVAD-B combined with PEG-ASP. Azathioprine was used for 2 weeks of maintenance chemotherapy due to inadequate supportive treatment in February 2018. During treatment, the patient developed severe depression and then citalopram hydrobromide was used to treat depression according to psychological consultant's recommendations. During the chemotherapy period, 12 lumbar punctures and intrathecal injections were performed to prevent and treat CNSL.
On the seventh day after the completion of chemotherapy, the patient complained of fever, perianal pain, and diarrhea, but he did not pay attention to it. Two days later (March 28, 2018), during our regular follow-up, he was noted to have dysuria and hematuria after catheter insertion. On admission, his axillary temperature was 36.6oC, his heart rate was 141 times per minute, and his blood pressure dropped to 74/54 mm Hg. Laboratory testing showed that white blood cell (WBC) and haemoglobin (HB) and platelet (PLT) decreased to 0.05×109/L and 91.1 g/L and 2.8×109/L, respectively; creatine kinase (CK) and creatinine which were previously normal (26 U/L and 61 μmol/L) were increased to 443 U/L and 193 μmol/L, respectively. The result of urine for occult blood test was strong positive. His coagulation function was also abnormal that prothrombin time (PT) increased to 17 seconds and activated partial thromboplastin time (APTT) increased to 70.30 s. Electrocardiogram showed sinus tachycardia. According to the past experience, vancomycin and meropenem were used to treat infection. In March 29th, he began to complain of weakness and disseminated muscle pain, and his CK increased suddenly to 3136 U/L, however, creatine kinase isoenzyme (CK-MB) was 49 U/L. At the same time, his myoglobin was noted to be markedly elevated to 813.2 ng/mL, creatinine and serum lactate dehydrogenase (LDH) were increased to 149 μmol/L and 361 U/L, respectively. Rhabdomyolysis was diagnosed and treated immediately with hydration and alkalization of urine considering severe symptoms and complication. Meropenem combined with teicoplanin was adjusted to fight infection due to renal function damage. In March 30th, the patient developed chest pain and decreased light reflex in the right eye, and the blood pressure was monitored as 70/40 mm Hg, CK and CK-MB were 2263 U/L and 59.2 U/L, respectively. Blood gas analysis suggested metabolic acidosis and repeated blood culture showed negative. He developed peripheral circulatory failure regardless of active treatment of correcting acidosis and hydration and elevated blood pressure. There was no improvement in the patient's condition and died at night despite the use of tracheal intubation, electrical defibrillation, continuous chest compression and adrenaline. The patient's father signed informed consent for publication of case details. The study was approved by the Human Ethics Committees Review Board at the First Affiliated Hospital of Guangxi Medical University, Nanning, China.
|
pmc-6250748-1
|
A 53-year-old male diagnosed with OI type I was referred to our clinic for extraction of the remaining maxillary teeth and evaluation for full arch immediate load hybrid prosthesis. His clinical history included osteogenesis type 1, bipolar disorder, alopecia, and hypothyroidism. The patient presented with normal stature, measuring 170.18 cm and weighing 81.65 kg with characteristic blue sclerae of OI type I (Fig. ). Throughout his life, he has had multiple orthopedic fractures due to his OI. At the time of surgery, he was on Lamictal, Xarelto, Synthroid, lisinopril, and hydrochlorothiazide.
Extraoral, TMJ, intraoral soft tissue, and lymph node examinations produced no abnormal findings. An examination of the dentition revealed the maxillary teeth were in poor repair with a fixed bridge extending from site number 2 to site number 5 with site number 3 serving as the pontic abutment. Sites number 8, number 9, number 10, and number 11 have periodontal involvement as well as recurrent decay. He was edentulous on the posterior left maxillary arch. His lower dentition consisted of sites number 19 through number 27 with number 28 being edentulous and number 29 having a root fracture (Fig. ). The upper jaw had good ridge width with reproducible centric relation and centric occlusion. The patient was otherwise healthy apart from medical issues directly related to his OI.
Due to his significant gag reflex, he was unable to wear a removable prosthesis. Lengthy conversations regarding implant therapy and implant options were reviewed as well as risks with his OI. Options presented included no treatment, placement of fixtures to support a removable prosthesis, placement of fixtures to support a fixed hybrid, and placement of axial implants for fixed denture prosthesis. He elected for a fixed denture prosthesis. Our patient was apprehensive towards having full edentulation and implant placement completed all at once and decided to have the implants placed in stages (Table ).
The patient underwent implant therapy in stages under general anesthesia with immediate load protocol. Intravenous access was obtained, and the patient was anesthetized under general anesthesia by our anesthesiologist. Carpules of 2% lidocaine with 1:100,000 epinephrine, 4% articaine hydrochloride with 1:100,000 epinephrine (Septocaine), and 0.5% bupivacaine hydrochloride with 1:200,000 epinephrine (Marcaine) were used as needed. For each site, a 15 blade was used to make a sulcular incision from the mesial to the distal aspect of the tooth. A full thickness mucoperiosteal flap was elevated with a periosteal elevator exposing the buccal alveolus. Buccal bone was removed using a surgical fissure bur to allow for osteotomes and elevators to atraumatically elevate and deliver the teeth, while preserving lingual, mesial, and distal walls. Next, a straight elevator was positioned between the alveolus and the root surface. The tooth was elevated, and the periodontal ligament was separated from the alveolus. The tooth was extracted using a no. 150 upper universal forcep. The socket was curetted and irrigated with copious amounts of normal saline solution. A bone file and rongeur were used to smoothen the alveolus.
To deliver implants, all bony walls were checked with a perio probe to verify the depth. A series of osteotomy burs were used at 1000 RPM and 50 Ncm of torque with copious sterile normal saline irrigation. At each step, angulation was checked. Once the final osteotomy was completed, the site was checked to verify that all bony walls were stable. A NobelActive implant was torqued into position at greater than 30 Ncm followed by placement of a cover screw. In instances where grafting was necessary, the graft material was positioned to obliterate the bony defect using a periosteal elevator and curette to place in the bony voids. The gingival tissues were repositioned using an Adson Tissue Forcep. A tension-free closure was attained with a periosteal release technique. The sites were closed with interrupted 3-0 gut sutures. All procedures were accomplished without any further complications.
The standard immediate loading procedures were followed as the patient met the guidelines of a minimum torque value of 35 Ncm. All fixtures placed had intraoperative open tray impressions taken. Impressions were sent to the laboratory, and fabrication of a screw-retained temporary was completed. Temporaries were placed within 24 h of surgery and were torqued at 15 Ncm. Following a 6-month period of functioning in temporary prostheses, final impressions were taken via open-tray technique. He was placed in his final prostheses with no complications. Our patient settled on final prostheses consisting of a four-unit bridge cemented at sites number 3 through number 6; individual crowns placed at sites number 7, number 8, number 9, number 10, and number 11; and a screw-retained, three-unit bridge placed at sites number 12 through number 14 (Figs. , , , , and ). The restorative dentist placed a polymethyl methacrylate (PMMA) prosthesis on the left side, and our patient will transition to his final crowns once he is financially ready.
Regular hygiene visits show that our OI patient has greatly improved his overall home care routine. No areas of gingival inflammation were found. Probing depths have remained 2–4 mm with no bleeding or purulent drainage at the fixtures sites. There have been no issues with implant mobility, and all healing post-operatively was uneventful.
|
pmc-6250805-1
|
A 41-year-old physician was seen because of an episode of major depression from which he recovered in a few weeks with a daily dose of 150 mg of venlafaxine. When he returned, he casually asked whether the medication could have cured his fear of watching terror movies. He said that since he was a child he used to be “very impressed” by the supernatural. When he heard or read such tales, he could not sleep alone and went to his parents' bed. He felt ashamed and avoided being in touch with “such matters” over his entire life. After his first son was born, his wife would go to the baby's room to rock the infant to sleep. If she happened to fall asleep, he usually looked for an excuse to wake her up and bring her back to their room; otherwise, he would not fall asleep. His fears increased when he heard of supernatural themes. On these occasions, images related to the recent themes would pop up at night when he was alone; at those times, unexpected noises would bring to mind the recollection of a deceased relative or excerpts of popular terror movies or stories. When he was almost paralyzed by fear he felt as if there were someone nearby, yet he never hallucinated voices or visions. If, due to social circumstances, he could not avoid watching a horror movie at all, the most emotional scenes would later come to mind repeatedly, preventing him from sleeping. This effect persisted for a few nights and gradually returned to baseline levels. Thrillers or movies about catastrophes did not scare him the least. He only sensed that his fears could warrant professional attention after he became free of them. On questioning, we found that he also had a mild social phobia and that, since early childhood, his mother panicked whenever she saw a feathered bird.
|
pmc-6250805-2
|
A 54-year-old lawyer intended to divorce his wife due to long-standing marital problems, but he wondered whether he would be bold enough to live alone. Since he was a teenager, he shared his room with an elder brother because he never managed to sleep alone. If left alone at night, he became fearful of ghosts and apparitions. He had a genuine interest in paranormal phenomena but could not read about them because it “sensitized” him and increased his fears at night. When his brother got married, he was desperate and got married less than a year later, after some embarrassing attempts to sleep with his parents. He had just graduated from college and admitted he never really loved his wife. He had a successful career but declined several opportunities to travel for work because he slept so badly in hotels that his performance was noticeably impaired. He could hardly bear staying alone in his office after hours, as he was increasingly disturbed by the feeling that someone was watching him over his back or just about to materialize before his eyes. He also complained of fear of closed places and of speaking in public. We did not succeed in controlling his symptoms due to gastrointestinal and cognitive adverse reactions to several drugs. He refused cognitive-behavioral therapy due to lack of time.
|
pmc-6250805-3
|
A 63-year-old woman complained of “nightly attacks of fear”. Two years earlier, her husband passed away and she had to live alone for the first time in her life. Since that time, she needed increasing doses of benzodiazepines to calm her down and aid her falling asleep. In the evening, she felt that there was “someone in the living room.” This sensed presence was often her deceased husband but could be other entities unknown to her. These feelings were quite disturbing and embarrassing. On some occasions, she wet her bed in the middle of the night because she would not “dare” walk to the bathroom. She never woke up from sleep in panic, as typically happens in cases of nocturnal panic attacks. She denied being anxious or afraid of other specific situations. Her fears had worsened in the weeks before consultation due to the emergence of a major depressive episode. She felt increasingly hopeless and considered suicide. Before her husband's death, she described herself as an active and resourceful housewife, which was fully endorsed by her daughter. However, she was very shy, and always avoided speaking in public, for example, in church. She never hallucinated or developed delusions of any kind. She was a religious person and fully aware that her fears were unfounded. Since early childhood she would flee to her brother or sister's room in the night seeking relief from dreadful images of supernatural phenomena that came to her mind. She got married when she was 16 and lived a peaceful life with her husband. He worked as a truck driver and was often away from home several days at a time. On these occasions, she asked her neighbors to let one of their daughters to sleep with her. She was oriented to time and place and her general state of health was fair. She was treated with 1 mg of alprazolam and quickly improved. In 2 weeks, her phobic symptoms had dramatically diminished and she reassumed her previous level of autonomy. She has been doing well for the past 2 years as long as she complies with the alprazolam as originally prescribed.
|
pmc-6250805-4
|
The following account was written by a bright 11-year-old girl as a response to my request to describe her fears.
“My fears are about supernatural stuff, even not believing in them. It's as if the fantasies of my mind make me imagine things that I've never really seen. Doors make me feel scared, regardless of whether they are shut or open, because I feel as if something is about to cross the doorway and chase me. When alone, I turn the lights on and look for a place from where I can see all the doors of my house. When I wake up in the middle of the night, which I do often, I immediately and involuntarily imagine dozens of horrible things, and usually end up thinking that something will snap in front of me out of the blue. I feel compelled to stay alert, so that I'm not caught by surprise if something does come by. I'm scared of darkness and never got used to it. One night it was raining, and my parents were out working. I panicked and called up my mother because I was overwhelmed by the feeling that a creepy being was just about to appear before my eyes and take hold of me. For the same reason, I don't sit in my bed with my feet hanging or placed on the floor, because I can't avoid expecting that hands from beneath my bed will grasp my heels and drag me down. These fears never come over if I'm not alone. Strangely, I seldom have nightmares.”
This little girl is currently 29-years-old and about to finish a postgraduate course in History. She overcame her fears around puberty with no systematic treatment.
|
pmc-6251061-1
|
A case of gallbladder carcinoma was reported in a 62-year-old man, with whom tumor in the gallbladder (GB) was occasionally detected without symptom. He had suffered from alcoholic hepatitis and diabetes mellitus at 50 years. There were no special notes in his family history, or in his relevant physical examination and other significant clinical findings. At admission, carcinoembryonic antigen level was 2.3 ng/ml and carbohydrate antigen 19-9 level was 8.4 U/ml. Ultra-sonographic images showed the low echoic mass in the fundus of the GB without any signal of blood flow (). Multi-detector computed tomography (CT) images showed the mass adjacent to the transverse colon without lymph-node enlargement. Diffusion weighted magnetic resonance (MR) images showed no deformity of the GB and no lymph-node swelling. Endoscopic ultrasonography revealed the continuity of the 3rd layer of the gallbladder wall: invasion to the subserosa layer (). Positron emission tomography (PET) showed the low-grade accumulation at the tumor in SUV max 2.5 at early phase and late phase. The patient was diagnosed with GB ca at the stage Ⅱ: T2, N0, M0, according to the classification of biliary tract cancers established by the Japanese Society of Hepato-Biliary-Pancreatic Surgery (3rd English edition). Cholecystectomy and intraoperative frozen section examination were planned. After the recognition of the invasion depth to subserosa and negative cystic duct margin, lymph-node dissection of the hepatoduodenal ligament with preserving biliary tract was performed. The blood flow of the common bile duct was estimated as remaining intact macroscopically. Pathological examination revealed the same progression stage as proposed preoperatively (). Three days after operation, biliary peritonitis was diagnosed. Emergency laparotomy revealed ischemic bile duct leakage at the connecting points of the hepatic, cystic, and common bile duct; discoloration of the cystic duct; and ulceration and perforation at the root of the cystic duct (). A near-infrared ray vision system (Photo Dynamic Eye®) using indocyanine green was introduced to estimate the blood flow. After the recognition of the proper flow (), preservation of the extrahepatic biliary duct was selected. No stricture of the bile system nor recurrence was recognized for two years after surgery.
|
pmc-6251062-1
|
We present the case of a 56-year-old male, admitted to the emergency room with [TBI] secondary to a gunshot wound in the right posterior parietal area. At admission he was awake with 11 points in the Glasgow Coma Scale [GCS] (O4 V2 M5), right pupil 4 mm, left pupil 3 mm, both light reactive. The initial CT scan () showed the entry zone of the projectile almost in the midline, bi-parietal intracerebral hemorrhage that was predominant in the right side, with cerebral edema in both occipital lobes. Two hours after admission, he suffered neurological deterioration to 8 points in the GCS (O1 V2 M5) and required intensive care unit [ICU] medical treatment that include: intubation, mechanical ventilation, sedation and analgesia.
We decided to place a parenchimal intracranial pressure monitor in the right Kocher point. The initial intracranial pressure was 60 mmHg, that was persistent despite optimal medical treatment. The patient was taken to the operating room and a posterior bi-parietal decompressive craniectomy was performed. After the Dural opening the intracranial pressure diminished until 42 mmHg; at the end of the surgery the intracranial pressure was 10 mmHg ().
Postoperatively the patient was admitted to the ICU where he was under intensive neuroprotective treatment with intracranial pressures under 15 mmHg. The 24 h postsurgical CT scan showed an adequate surgical decompression and presence of basal cisterns (, ).
The patient was kept under sedation and analgesia with midazolam and propofol, maintaining a Richmond Analgesia-Sedation Score [RASS] -5, and the pupils returned to 2 mm, low reflective, he required vasopressor support (norepinephrine) to keep a mean arterial pressure between 90–100 mmHg. His diary urinary output was 1–1.2 ml/kg/h. At day 4 the sedatives were suspended to assess neurological response, however, six days after the surgery the patient underwent tracheostomy because the maximal Glasgow Coma Scale was 8 points; had diminished gag-reflex and developed nosocomial pneumonia. ICU discharged the patient to Neurosurgery service 12 days after, where he completed antibiotic treatment, started rehabilitation and physical therapy. At discharge of our service, at day 16 of hospitalization the patient was with 11 points in the GCS (O4, V1, M6), pupils were 3 mm both adequate light responsive, the surgical wound did not presented any complications, the strength in the 4 extremities was 4/5, reflexes ++, and sensibility was conserved in all of its modalities. Six months after the initial trauma the patient underwent cranioplasty with autologous bone graft.
|
pmc-6251104-1
|
A 67-year-old Japanese woman, taking daily oral cyclophosphamide against lymphoplasmacytic lymphoma for 4 years, was referred to the nephrology department because of recently developed nephrotic syndrome. The patient showed bilateral leg edema and weight gain. Laboratory data showed preserved kidney function (serum creatinine, 0.61 mg/dL; estimated glomerular filtration rate, 73.7 ml/min/1.73m2) and hypoalbuminemia (2.2 g/dL). The urinalysis was negative for occult blood and revealed a urinary total protein-to-creatinine ratio (UPCR) of 9.7 g/gCr. Serum immunoglobulin levels were IgG 466 mg/dL, IgA 74 mg/dL, and IgM 2789 mg/dL, serum free light-chain levels were kappa-light chain 24.4 mg/L and lambda-light chain 15.8 mg/L (kappa-to-lambda serum free light-chain ratio of 1.54) and plasma electrophoresis revealed IgM-kappa monoclonal gammopathy. Renal biopsy was performed under suspicion of monoclonal gammopathy of renal significance [].
The renal biopsy specimens contained 12 glomeruli without proliferative features, and the glomeruli revealed slight mesangial widening with amorphous deposits (Fig. ). Congo-red staining was positive in the mesangial area (Fig. ) and electron microscopic analysis showed non-branched fibrils (Fig. ) indicating renal amyloidosis. Electron microscopic analysis was negative for granular and amorphous deposits on the endothelial aspect of the glomerular basement membrane and outer aspect of the tubular basement membrane. Immunofluorescence staining was equally positive for IgM (mu heavy-chain, Fig. ) and kappa light-chains (Fig. ) and was negative for linear staining of tubular basement membrane. The immunostaining for the other immunoglobulins (Fig. ), complements, serum amyloid A, transthyretin, and fibrinogen yielded negative results. Therefore, IgM-kappa type renal AHL amyloidosis due to lymphoplasmacytic lymphoma was suspected []. Smears and flow cytometry of bone marrow aspirate were consistent with previous diagnosis of lymphoplasmacytic lymphoma. After the diagnosis, weekly oral fludarabine was initiated. The proteinuria and hypoalbuminemia gradually improved to UPCR of 2.5 g/gCr and serum albumin level of 3.6 g/dL in one-and-a-half years.
In order to confirm the monotypic IgM-kappa deposition and the diagnosis of AHL amyloidosis, we performed LMD-LC-MS/MS of the glomerular amyloid depositions. The LMD-LC-MS/MS identified mu heavy-chain and kappa light-chain (Fig. ) with mu heavy-chain predominance consistent with the diagnosis of IgM-kappa type renal AHL amyloidosis []. We next performed LC-MS/MS of renal amyloid fibrils isolated by the traditional amyloid purification method [] to confirm that both the identified immunoglobulins compose amyloid fibrils. The additional LC-MS/MS only identified kappa light-chains without any heavy-chain component (Fig. ). All together, we eventually diagnosed the case as “kappa type renal AL amyloidosis with non-amyloid forming monoclonal IgM-kappa deposition”.
|
pmc-6251192-1
|
Our patient was a 44-year-old Japanese man who worked as a karate coach. He had no other past medical history. He does not smoke and is a moderate alcohol drinker. He complained of pain and swelling on the medial aspect of his right ankle and had difficulty in ambulation. He was injured while acting as an umpire in a karate competition. While trying to avoid contact with a player, he stepped on the floor with his ankle dorsiflexed and with his knee flexed. He immediately felt pain and heard a snapping sound in his ankle. He was brought to the hospital on the same day because of difficulty in ambulation after the injury.
No abnormality was observed in the laboratory data. Physical examination revealed that the medial side of his right ankle was swollen (Fig. ), and marked tenderness was present at the posterior of the medial malleolus. There was no ankle instability, as confirmed by the varus stress, valgus stress, and anterior drawer tests. The tibialis posterior tendon was dislocated and reduced manually with local anesthesia (1% xylocaine) around the medial malleolus (Fig. ). No neurological deficit was seen.
Standard radiographs showed a normal ankle appearance (Fig. ). Magnetic resonance imaging (MRI) demonstrated an anterior subluxated tibialis posterior tendon that laid on the medial malleolus. Signal changes shown in the transverse plane of T2-weighted MRI scans revealed suspected fluid or bleeding at the retromalleolar groove (Fig. ).
We diagnosed a dislocation of the tibialis posterior tendon based on the above-mentioned examination and performed surgical treatment at 4 days post-injury. Intraoperatively, the flexor retinaculum was detached from the medial malleolus, and a tendon sheath tear was noted. The tibialis posterior tendon was dislocated anteriorly from the medial malleolus groove. The tendon was torn longitudinally and sutured using 4-0 nylon. Drill holes were made in the medial malleolus using a 1.8-mm-diameter Kirschner wire following the Das De procedure []. The flexor retinaculum was attached to the bone at the medial malleolus, and the tendon sheath was repaired.
A below-the-knee cast kept the foot immobilized for 2 weeks. At 3 weeks, range-of-motion exercises for the ankle were started, and the patient was allowed to walk with an ankle-foot orthosis at 8 weeks. Subsequently, jogging was allowed at 12 weeks.
At 1 year postoperatively, MRI showed that the tibialis posterior tendon was located at its normal anatomical position (Fig. ), and the patient returned to work as a karate coach. The patient scored 100 on the Japanese Society for Surgery of the Foot ankle-hind foot scale (JSSF ankle-hind foot scale) (Table ). No abnormal laboratory data or neurological deficit was present at 1 year postoperatively.
|
pmc-6251325-1
|
A previously healthy 43-years-old woman living in pasturing area, with no personal or family history of immunodeficiency, presented with a 2-months history of intermittent fever that was sometimes accompanied with chill, abdominal pain, diarrhea and hematochezia.
The woman reported to a local hospital initially, where she was diagnosed with inflammatory bowel disease and treated with clindamycin, resulting in some clinical improvement. When her previous symptoms deteriorated for 10 days, she was seen at the Gastroenterology Department at our hospital. An X-ray of patient's abdomen at out-patient department showed signs of “incomplete intestinal obstruction” and she was admitted for further evaluation. Her physical examination was unremarkable, except for low blood pressure (97/71 mmHg) and a pale appearance. There was no self-reported loss of weight/appetite or other significant clinical findings at initial presentation. The laboratory tests at this initial presentation are summarized in Table .
The patient was treated with anti-infective and symptomatic therapy initially. An enhanced-CT scan performed on day 2 in the hospital showed diffusible change in ascending, transverse and descending colon mimic ulcerous colitis. Multiple lymph nodes of mesenteric and posterior-peritoneum areas were visible (Figure ). An emergency colonoscopy examination was suggested, which revealed multiple, discrete ulcers with irregular boundaries and clean base, scattered throughout the colon. The diameters of ulcers varied from 6 to 30 mm and errhysis could be seen around the erosion. Normal mucosa was also clearly visible amid the ulcers (Figure ).
The specific clonoscopic presentation made a strong indication of inflammatory disease including Ulcerative colitis (UC) and Crohn Disease (CD). Specific infectious bowel disease, especially intestinal tuberculosis, was also suspected because of patient's persistent fever, and the intestinal lymphoma diagnosis also could not be excluded. Further laboratory tests were done, including, chronic inflammatory enteropathy combination, anti-nuclear antibody (ANA), anti-neutrophil cytoplasmic antibodies (ANCA), rheumatism related factors (ASO+RF+ CRP), tumor markers of digestive tract, procalcitonin (PCT), blood culture, stool culture, amebic trophozoite detection, cytomegalovirus (CMV), anti-EBV antibodies, T-cell spot experiment and PPD test for Mycobacterium tuberculosis, Widal reaction, anti-Brucella antibodies, hepatitis virus indicators, Fungi D glucan detection, etc. Results for all of these tests were either negative or unremarkable, except for the high EBV-related antibody titers: anti-EBV viral capsid antigen (VCA)-IgG: (4.157 s/co), anti-EBV VCA-IgM (0.391 s/co), Epstein barr nuclear antigen (EBNA) IgG (0.865 s/co), EBEA IgG (1.933 s/co), and Epstein barr early antigen (EBEA) IgM (0.187 s/co).
Patient showed no signs of remission during hospitalization. On day 10, a color Doppler ultrasound of abdomen showed splenomegaly. Patient developed severe intestinal bleeding 14 days after admission and underwent an emergency total colectomy, terminal ileum ectomy, small intestine and rectum anastomosis and preventive ileostomy. She was discharged after stable condition and was treated with mesalazine for ulcerative colitis (UC), based on the post-surgery pathological diagnosis made by our hospital. Mesalazine was stopped after a few courses.
Capital Medical University-affiliated Beijing Friendship Hospital made a histological diagnosis of EBV T-cell LPD (II: Borderline) after histological examination of the resected tissue. Microscopic examination of resected colon slides revealed ulceration of intestinal mucosa and intestinal interstitial edema, which was accompanied by diffuse infiltration of small-to-medium-sized pleomorphic mild atypical lymphoid cells within mucosa and submucosa with a mixture of plasma cells and eosinophilic granulocyte and tissue cells. Some of the lymphoid cells had big nucleus and more obvious nucleoli. Lymphoid cells were observed to be distributed in muscular layer and serosa (Figure ). We confirmed the diagnosis of EBV-associated T-cell LPD, based on the results from immunohistochemistry (IHC) and in situ hybridization of EBV-encoded miRNA (EBER). IHC revealed that the mild atypical lymphoid cells were positive for (Figure ) CD3, (Figure ) CD2, (Figure ) CD7, and (Figure ) CD4 expression. Further, a few atypical cells were also found positive for (Figure ) CD8, (Figure ) GranzymeB, (Figure ) TIAI, TCRGβ, and TCRγδ. The lymphoid cells were negative for CD56. (Figure ) Ki-67 positivity was 40–50%. In situ hybridization for (Figure ) EBER demonstrated EBV-positive atypical lymphoid cells of 50/HPF.
The patient was recommended to come back to hospital monthly for reexaminations. During these visits, she had signs of relapse every time, including new stoma ulcers and bloody stools. EB viral load test was done during her first follow-up visit, and EBV-DNA was found to be 2.55 × 106 copies/ml for. A post-operative colonoscopy, performed at first relapse, showed multiple aphthous bleeding ulcers scattered from the stoma to about 40 cm away from small intestine, in addition to colonic post-operative anastomositis (Figure ). Histological examination of biopsy samples confirmed the pathological diagnosis of EBV-T-cell LPD. Treatment with daily prednisolone 10 mg was initiated intravenously for a few days in the hospital. Oral prednisolone, 40 mg/day, was prescribed thereafter, after which it was tapered off slowly. The patient showed significant clinical improvement. Hematochezia was temporarily controlled until when the prednisolone was tapered off to 25 mg, and EBV-DNA decreased to 1.31 × 106 copies/mL. Moreover, nothing remarkable was observed in colonoscopy this time (Figure ). A bone marrow aspiration was strongly recommended but was not performed because of family refusal.
The last time patient came back to our department for reexamination was 4 months after her initial presentation. During this last visit, bone marrow aspiration was performed and found to be normal. However, liver function tests turned out to be abnormal (ALT 100 IU/L and AST 43 IU/L). EBV-DNA was 1 × 106 copies/mL. The patient was referred to the Oncology Department of our Hospital for evaluation. She was asked to continue with the combination of prednisolone and anti-viral medication, until she presented with persistent fever and hematochezia, and died, 3 months later.
|
pmc-6251348-1
|
The patient is a 64-year-old Panamanian male physician, who is a resident in the Darien Province (a rural area endemic for CL), presented with multiple pleomorphic cutaneous lesions on his lower extremities for over 1 month. The patient states that approximately 2 months ago he went to a social event in Cerro Azul (mountainous area in the Panama Province, also an endemic area for leishmaniasis) where he received multiple bug bites. The patient first noticed a small hyperpigmented nodule on his thigh, which rapidly progressed to multiple lesions on both legs. The lesions were painless and nonpruritic. On presentation, he had 11 total lesions, spread over both lower extremities, more prominent in the legs and ankles. Two were located on the right posterior thigh, 2 on the right lower leg, 6 on the left ankle, and 1 on the left dorsal foot (). Most of the lesions were nodular hyperpigmented lesions, whereas others were erythematous plaques. Some of these plaques had small areas of ulceration. No purulent secretions were seen. The patient’s initial work up showed the following: complete blood count, comprehensive metabolic panel, and erythrocyte sedimentation rate within normal limits. Venereal Disease Research Laboratory test, enzyme-linked immunosorbent assay, and Western blot for human immunodeficiency virus were negative. Montenegro and protein-purified derivate (PPD) skin tests were negative.
Biopsies were taken and sent for histopathology and polymerase chain reaction (PCR). Histopathology of the plaques and nodules revealed an intense chronic inflammatory reaction, epidermic ulceration with hyperkeratosis in the borders, a predominance of histiocytes, and mononuclear cells with numerous intracellular amastigotes in phagocytic vacuoles. Deoxyribonucleic acid (DNA) extraction of the biopsy was performed using the QIAGEN QIAmp DNA Blood Mini Kit according to manufacturer’s instructions (QIAGEN, Valencia, CA). The DNA extracted was amplified using oligonucleotide primers B1 and LV, which amplify the entire minicircle that specifically amplify the entire 750-base pair (bp) minicircle of Leishmania Viannia species. Leishmania panamensis was identified by a PCR analysis using oligonucleotides F25 and R1310, which amplify a 1286-bp product from the repeated gene heat shock protein 70 from the biopsy [, ]. Leishmania Viannia panamensis, Leishmania Viannia brasiliensis, and Leishmania Viannia guyanensis reference strains were used in this study as controls.
An ear/nose/throat evaluation including an endoscopy and computed tomography of head-neck were negative for mucosal disease. The patient was started on 20 mg/kg meglumine antimoniate (Glucantime; Sanofi Aventis, Suzano, Brazil) per day given intravenously for 20 days (this is the dose recommended by the ministry of health in Panama) with initial resolution of his symptoms. His disease recurred twice (all treated with the above-mentioned drug regimen) over a 2-year period. Recurrence was defined clinically by appearance of new lesions and reappearance or growth of the initial lesions. After 2 cycles of meglumine antimoniate without significant response, he was eventually treated with amphotericin B deoxycholate (total dose of 1.5 grams) with complete resolution of his lesions.
|
pmc-6251372-1
|
A 62-year-old female patient was referred to our institution for further diagnostic workup of elevated liver enzymes and incidental cholelithiasis. She complained of worsening jaundice, nausea and vomiting, dark urine, and a 25-pound weight loss at the time of admission. Liver function results were as follows: aspartate aminotransferase 43 U/L and alanine aminotransferase 53 U/L, alkaline phosphatase 442 U/L, albumin 3.2 g/dL, bilirubin total 2.5 mg/dL, and bilirubin direct 1.5 mg/dL. An endoscopic retrograde cholangiopancreatography showed strictures of the common bile duct suggestive of primary sclerosing cholangitis. A contrast-enhanced computed tomography scan () revealed an ill-defined, low-attenuating soft tissue mass in the porta hepatis with biliary duct dilatation, but no intrahepatic mass was identified. Based on these findings, a preoperative diagnosis of cholangiocarcinoma secondary to primary sclerosing cholangitis was made. The patient underwent a common bile duct resection, cholecystectomy, and Roux-en-Y hepaticojejunostomy. The mass was completely removed and sent to pathology for confirmatory diagnosis. Histologic sections of the left and the right bile ducts showed a histiocytic cell proliferation that consisted of mononuclear bean-shaped cells with cleaved nuclei and abundant cytoplasm admixed with eosinophils (). Sections of the adjacent liver showed variable bile duct proliferation, focal bridging and periductal fibrosis, and cholestasis. Immunohistochemistry revealed neoplastic cells that were positive for S100 (), CD1a (), CD68, CD14, and lysozyme. Electron microscopy of the tumor cells demonstrated the presence of Birbeck granules () in the majority of histiocytes examined. These findings confirmed the diagnosis of LCH. The patient underwent a whole-body imaging to look for other areas of disease involvement, but the studies were negative. The patient received adjuvant chemotherapy with 5 courses of cladribine and was disease-free for 14 months after which she developed bacteremia due to a polymicrobial biliary infection from a chronic indwelling biliary drain. On admission, imaging studies did not reveal any evidence of malignancy. The patient went into septic shock, and despite therapeutic measures with antibiotics, vasopressor support, and volume resuscitation, she expired. An institutional review board waiver of consent was obtained for publishing the case report.
|
pmc-6252030-1
|
Proband was a 31-year-old man (III2) referred to Ophthalmology Department, Vasei Hospital on Dec. 2016 with severe bilateral restricted eye movements and ptosis since birth (). His intellectual and social ability were satisfying and there were no other clinical symptoms as growth parameters abnormality, abdominal, respiratory and cardiovascular problems. Eye examination showed significant limitation of abduction, limitation of adduction and limitation of depression bilaterally. To compensate ptosis, 20 degree chin-up head position was noted. Fundoscopic observation detected no pigmentary retinopathy and optic atrophy. Pupillary function and anterior segment examinations were within normal limits. Due to the positive family history with similar ocular abnormalities across three generations (), proband and his family received clinical genetic service.
Patient II:7 is a 54 year old man who was born with bilateral ophthalmoplegia and ptosis. Levator function was absent in both eyes. Primary vertical position of each eye was infraducted. Patient III:9 was a 14 year old boy who was born with typical signs of ptosis and complete restriction in eye movements. Ptosis was slightly improved after surgery at the age of 6 in the right eye.
All 3 patients had a normal cornea, iris, lens, and fundus appearance. Phenotype of the referring family has been suspected to be similar to the CFEOM 1. For time and cost saving, instead of doing Whole Exome Sequencing (WES) or performing Sanger sequencing on the known genes, according to the literature reviews, only KIF21A and TUBB3 were sequenced which are involved in the most common form of CFEOM.
Ethical committee of Sabzevar University of Medical Sciences confirmed the study. Consent form was collected from all the members of the family that participated in the study. For performing molecular experiments, 5 ml peripheral blood was collected from each sample and was kept in EDTA tubes. According to the extraction kit (C.N. DN 8115C Sina colon, Iran), genomic DNA was extracted from peripheral blood. Considering the mutation reports of KIF21A and TUBB3 in the literatures, exons 8, 20, 21 of the KIF21A gene and exons 1, 2, 3, 4 of TUBB3 gene were amplified using sequence specific primers (). Optimal temperature conditions were as following: 5 min at 95°C, 35 cycles of 30 s at 95°C, 30 s at 57°C, and 1 min at 72°C. Then, Sanger sequencing was performed on purified amplicons (high throughput Applied Biosystems 3730XL sequencers). To analyze the results, the sequences were monitored using Finch TV software version 1.4.0.
|
pmc-6252175-1
|
A 32-year-old woman, a known case of idiopathic dilated cardiomyopathy with progressive heart failure presented with New York Heart Association class 3–4 heart failure and underwent orthotopic heart transplantation (HTx). Her immunosuppressant regimen included anti-thymocyte globulin, prednisolone, mycophenolate mofetil, and tacrolimus. Her post-operative course was uneventful and she was discharged in excellent condition on 12th post-operative day. Four months later, she presented with dry cough of two days duration. The patient denied any fever, chills, hemoptysis, chest pain, myalgia, orthopnea, and palpitation. Vital signs included a blood pressure of 120/70 mm Hg, oral temperature of 37.2 °C, heart rate of 78 beats/min, respiratory rate of 18 breath/min, and O2 saturation of 94% at room temperature. In physical examination, normal heart sounds and clear breathing sounds were noted. Laboratory blood tests showed total white blood cell count of 8200/mm3, 65% neutrophils, 28% lymphocyte, 4% monocytes and 3% eosinophils. Cytomegalovirus (CMV) was negative. Renal and liver function tests were within normal range. Chest x-ray was normal (). An echocardiogram showed an ejection fraction of 50%, which was unchanged from the previous results. After six hours, she developed dyspnea and low-grade fever. Repeated chest x-ray revealed a new infiltration involving the right-middle and lower lobes (). On suspicion of pneumonia, bronchoscopy and bronchoalveolar lavage were performed. Blood, urine, and stool culture were obtained and empiric broad-spectrum antibiotic therapy was initiated. Computed tomography of chest revealed bilateral multiple well-defined consolidations with halo sign (). At this stage, clinical diagnosis of invasive pulmonary aspergillosis was made and antifungal therapy was initiated with voriconazole and amphotericin B. Prednisolone was discontinued. The immunosuppressant doses were lowered. Serum Aspergillus galactomannan antigen assay was requested. The condition of the patient worsened; she developed sudden-onset respiratory failure, necessitating endotracheal intubation and mechanical ventilation. Her hemodynamic became unstable, requiring vasopressor support. After two more hours the patient worsened clinically and subsequently succumbed to cardiorespiratory arrest. Blood, urine, and stool cultures showed no microbial growth after four days of incubation. The test for CMV antigenemia was negative. Multiple bronchoalveolar lavage cultures isolated A. fumigatus.
|
pmc-6252179-1
|
A 25-year-old man, known case of dilated cardiomyopathy, aneurysm of the ascending aorta, and severe aortic regurgitation, referred to our center for heart transplantation. He had no risk factor for cardiovascular diseases. He was under treatment with furosemide, spironolactone, lisinopril, atorvastatin, and carvedilol. Echocardiography showed severe left ventricular enlargement with severe systolic dysfunction (LVEF of 20%), global hypokinesia, significantly increased left ventricular filling pressure, severe right ventricular enlargement with severe systolic dysfunction, tethered mitral leaflets with moderate functional mitral regurgitation, tricuspid malcoapted aortic leaflets with severe aortic insufficiency, aneurysmal dilatation of the sinus of Valsalva (6.9 cm) and ascending aorta (8.1 cm), severe pulmonary hypertension (mean PAP of 45 mm Hg), and large bilateral pleural effusion. He underwent total cardiac and aortic root transplantation. The surgically excised aortic aneurysm is shown in .
Operative Technique
After proper prep and drape, midline sternotomy was done with 3 cm extension of superior aspect of the incision to the neck. Using two thoracic retractors, at the same time, we had a good exposure to the thorax and neck vessels. Before opening the pericardium, we explored the innominate artery in the neck and after injection of the proper amount of heparin, we cannulated it directly with simple aortic cannula. At first, tip of the cannula was guided toward the aortic arch. Then, the pericardium was opened vertically and a two-stage cannula was inserted into the right atrium. Cardiopulmonary bypass was started and the patient cooled down to 28 °C.
The groove between the ascending aorta and pulmonary artery was dissected properly and an aortic clamp was inserted at the mid-portion of the most dilated part of the ascending aorta. Resection of the recipient’s heart was done as routine with the resection of aorta just below the clamp. The donor’s heart was transplanted first with the left atrium anastomosis. Then, the posterior part of the pulmonary artery was anastomosed properly. Then, the tip of the aortic cannula was turned toward the cervical vessels at low flow state and aortic clamp was opened. Another clamp was inserted between the arch and the cannula at innominate artery. Circulatory arrest was started with a perfusion rate of 600 mL/min of head and neck vessels. Hemi-arch resection was done and the donor’s aorta, which was resected totally with its arch, was anastomosed to the hemi-arch of the patient.
Warming of the patient was started. The cannula’s tip was rotated again toward the aortic arch. Normal cardiopulmonary flow was started after inserting the aortic vent and the superior and inferior vena cava and anterior part of the pulmonary artery was anastomosed as routine at normal temperature. The cardiopulmonary bypass was stopped. Immediately post-operative trans-esophageal echocardiography showed normal left ventricular size with mild to moderate systolic dysfunction (LVEF of 40%–45%) with hypokinesia of the lateral wall, moderate right ventricular enlargement with moderate to severe systolic dysfunction, mild to moderate mitral regurgitation, no aortic insufficiency, and normal ascending aorta. The patient had an uneventful hospital course. He was followed for three years annually until now. His last admission was for annual cardiac biopsy, when echocardiography showed normal left ventricular size and systolic function (LVEF of 55%), mild to moderate right ventricular enlargement and dysfunction, no aortic insufficiency, mild mitral regurgitation, and no pulmonary artery hypertension.
|
pmc-6252184-1
|
A 74 -year-old man was diagnosed with right kidney tumor on routine computed tomography (CT) 10 years after initial surgery. His medical history comprised near total thyroidectomy for papillary thyroid cancer (PTC) 10 years ago and complete thyroidectomy for recurrence 6 years ago. He did not complain of urinary symptoms such as flank pain or hematuria. Blood test results were as follows: creatinine (Cre), 0.78 mg/dL; blood urea nitrogen (BUN), 14.2 mg/dL; thyroid-stimulating hormone (TSH), 0.13 μIU/mL; free thyroxine (F-T4), 1.57 ng/mL; thyroglobulin (Tg), 95.0 ng/dL (Tg doubling time, 0.31 years); and Tg antibody (TgAb), 11 IU/mL. Transabdominal ultrasonography (US) revealed a right kidney tumor measuring 5.3 × 3.7 cm. The tumor blood flow was similar to that of the kidneys. In addition, CT revealed an irregular tumor mass projecting outward from the right kidney with no evidence of other metastatic lesions (). Despite a little marginally elevated Tg level, imaging studies of the right kidney raised suspicions of primary renal cell carcinoma (RCC). Following consultations with urologists, a right laparoscopic radical nephrectomy was performed. The pathology report revealed that the right nephrectomy specimen contained a grayish tumor measuring 5.5 × 5.0 cm on the upper pole (). Histological sections of the resected specimen revealed that the tumor formed a papillary structure, and the lumen was filled with eosinophilic substances that were considered colloids. Further, individual cancer cells had nuclear grooves, and findings suggestive of nuclear inclusions were observed (Figures and ). Immunohistochemistry (IHC) results were positive for thyroid transcription factor 1 (TTF-1) and Tg (Figures and ). The patient was discharged from the hospital on postoperative day 7 without any complications. Postoperatively, the Tg level decreased to 3.05 ng/dL and, 3 years after nephrectomy, no recurrence has been reported.
|
pmc-6252184-2
|
A 68-year-old woman, with medical history of total thyroidectomy for follicular thyroid carcinoma (FTC) 24 years ago, exhibited a high Tg level. However, she did not complain of any urinary symptoms. Her blood test results were as follows: Cre, 0.65 mg/dL; BUN, 14.7 mg/dL; TSH, 0.09 μIU/mL; F-T4, 1.35 ng/mL; Tg, 10500.0 ng/dL (Tg doubling time, 0.31 years); and TgAb, 11 IU/mL. CT revealed a left kidney tumor measuring 4.0 × 3.5 cm (). The Tg level was remarkably high; thus, recurrence of FTC was predominantly suspected. However, CT identified no other metastatic lesion, and nephrectomy was performed. The pathology report revealed that the left nephrectomy specimen comprised a light brown tumor measuring 4.5 × 4.4 cm on the lower pole (). In addition, histological sections of the resected specimen revealed that the tumor formed a follicular structure and was undergoing infiltration and proliferation (Figures and ). Furthermore, IHC was positive for TTF-1 and Tg (Figures and ). The patient was discharged from the hospital on postoperative day 6 without any complications. The Tg level decreased postoperatively to 298 ng/dL.
|
pmc-6252208-1
|
An 11.5-year-old female was referred to the Division of Facial Abnormalities at Wroclaw Medical University.
The girl was born of the first pregnancy without any eventful perinatal history. She weighed 3500 g. Based on the postnatal clinical examination, the additional digit in the left hand and torticollis and flexion contracture of the digits in the right hand with deformation of the right thumb were diagnosed. The genetic examination was done and the result showed mutation in the 22nd exon of gene FLNA (variant c.3956C) in heterozygous (what indicates the MNS). During the first year of the child's life, psychomotor development was insignificantly delayed. According to medical history, there were numerous abnormalities in the osteoarticular system and in the structure of the internal ear, facial dysmorphism, hypertelorism, bone loss in the frontal bone, and deformation of vertebral bodies of lumbar vertebrae and the child was underweight. The patient needed to remain under constant care of: pediatricians, audiologists, pulmonologists, and rehabilitation specialists. After clinical orthodontic examination (Figures –), angle class II on the right and left side was diagnosed, overeruption (overjet 7.7 mm, overbite 12.7 mm) and facial dysmorphism (Figures and ): exophthalmos, hypertelorism, full cheeks, and prominent superciliary ridges were observed. Panoramic radiograph () demonstrated the absence of two right second tooth germs of the second molars (upper and lower), right second lower premolar, and all third molars. In place of the right lower second premolar, there was a persistent deciduous tooth 85. Results of the cephalometric analysis () indicated abnormalities in the following parameters: reduced mentolabialis sulcus angle, skeletal class II with proclination of the upper incisors (WITS 8.6 mm), retrognathic facial type–(), mandibular hypoplasia, which caused oblique retro face ().
|
pmc-6252216-1
|
A 24-year-old female presented to the otology clinic with a seven-week history of sudden onset right sided hearing loss and vertigo. One week later, she suffered left sided hearing loss. One month after the onset of her symptoms, she was evaluated by a community otolaryngologist who suspected Cogan's syndrome (CS) due to concurrent blurry vision, photophobia, eye pain, and excessive watering. She was treated with high pose prednisone and referred to our center for evaluation by otolaryngology, ophthalmology, and rheumatology. Her past medical history was significant for asthma.
Ophthalmology observed subepithelial corneal infiltrates, but they were not felt to be consistent with classic interstitial keratitis. She was prescribed steroid eye drops, and her vision and pain improved dramatically. Rheumatology felt she had atypical CS and started treatment with methotrexate.
On presentation to clinic, her vertigo and imbalance had mostly resolved; however, her hearing did not improve. Initial audiogram and repeat audiogram after prednisone showed profound bilateral hearing loss with 0% speech discrimination bilaterally. MRI scan revealed enhancement of the otic capsule bilaterally (). At the time of her scan, there was no loss of fluid signal from the cochlea on FIESTA sequencing as might be expected if cochlear fibrosis and/or ossification were to be present. Autoimmune serology labs were normal. Given the lack of response to medication and duration of her sudden onset hearing loss of 7 weeks, we felt she would benefit from simultaneous cochlear implantation, and the patient agreed to the procedure.
At surgery, patient was found to have significant ossification of the scala tympani on both ears. Fortunately, a full electrode insertion was completed on each side after a significant basal turn drill-out was performed (Advanced Bionics HiRes Ultra device with mid-scala electrode, Valencia, CA). Five weeks after surgery, she was appropriately healed, and her devices were activated. During activation, elevated impedances were found on the right at electrodes 3, 12, 13, and 15, while the left side showed normal impedances. The increased impedances slowly decreased over time and are currently within the normal range, although elevated compared to the remainder of the electrodes. Currently, the patient is using cyclosporine drops in both eyes, both of which have good vision and are without pain. She continues to follow with rheumatology, who has prescribed a maintenance dose of methotrexate at 20 mg weekly. Five months after activation, she attained a word recognition score of 76%. She continues to show improvement in her implant performance without any signs of decrement.
|
pmc-6252220-1
|
A 57-year-old man presented to the internal medicine department with complaints of sudden upper abdominal pain. He denied fever, changes in the color of his urine or stool, nausea, or vomiting. Physical exams revealed no remarkable findings. Laboratory examination showed a white blood cell (WBC) count of 10,600/μL, hemoglobin (Hb) of 14.6 g/dL, C-reactive protein (CRP) of 2.49 mg/dL, blood urea nitrogen (BUN) of 9.5 mg/dL, serum creatinine (Crea) of 0.63 mg/dL, aspartate aminotransferase concentration of 25 U/L, alanine aminotransferase concentration of 19 U/L, lactate dehydrogenase concentration of 241 U/L, alkaline phosphatase (ALP) concentration of 338 U/L, γ-glutamyl transpeptidase (γ-GTP) concentration of 66 U/L, serum total protein concentration of 6.65 g/dL, and serum albumin concentration of 3.59 g/dL. His serum level of AFP was elevated to 588.9 ng/mL, whereas his carbohydrate antigen 19-9 (CA19-9) and carcinoembryonic antigen (CEA) levels were within the normal ranges. An abdominal computed tomography (CT) scan revealed multiple tumors on his liver suggestive of hepatocellular cancer with part of the tumor rupturing imminently (). Five days after admission to our hospital, the mass of the liver ruptured. He was transferred to a different hospital and underwent transarterial chemoembolization (TACE) of the rupturing lesion and HAIC with 5-fluorouracil (5FU)/cisplatin (CDDP) to the others. The patient's AFP levels decreased from 588.9 to 291.7 ng/mL after one cycle of HAIC with 5FU/CDDP (Figures and ).
A gastrointestinal scope after TACE and HAIC showed a Borrmann type 2 lesion on the pyloric portion of the lesser curvature, which was histologically diagnosed as suspected hepatoid adenocarcinoma ().
Immunohistological staining for AFP and Sal-like protein 4 (SALL4), glypican3, and human epidermal growth receptor 2 (HER2) was negative for AFP and positive for SALL4 and Glypican3 (). A liver biopsy confirmed that the lesion was a liver metastasis. Analysis of the liver biopsy specimen revealed that the liver mass was metastatic carcinoma of the liver. Immunohistological staining showed that the specimen was positive for SALL4 and heterochromatin protein 1 (HP1) (). Based on these results, the patient was diagnosed with AFPGC and multiple liver metastasis.
He underwent four cycles of systemic chemotherapy with capecitabine (cape)/cisplatin (CDDP) (cape 2000 mg/sqm >> 3,000 mg/body days 1–14, CDDP 80 mg/sqm >> 130 mg/body day 1, every 3 weeks), which resulted in progressive disease. His AFP levels increased from 297.1 to 4320 ng/mL, and a CT scan revealed progression of the liver metastasis (). As the lesion of the liver on S4 was at a high risk of rupturing and HAIC was effective in the previous treatment, we decided to perform TACE and HAIC to the liver metastasis again. Bleeding developed from the gastric lesion after a cycle of HAIC with 5-FU/CDDP, and the patient underwent a distal gastrectomy and D2 + α lymph node resection. One month after the gastrectomy, eight cycles of systemic chemotherapy comprising PTX and RAM were administered. As a result, the patient's AFP levels decreased to 2.9 ng/mL and a CT scan showed that the tumor had vanished (). After a three-month drug holiday, chemotherapy with RAM as a maintenance therapy was resumed (). The patient has continued with RAM and has so far survived for 19 months after recurrence and is alive without a recurrence.
|
pmc-6252224-1
|
A 58-year-old Caucasian male was diagnosed in early 2014 with multiple myeloma. He was treated with dexamethasone, cisplatin, doxorubicin, cyclophosphamide, and etoposide-induction chemotherapy and then tandem ASCT in June and September 2014, respectively. Pretransplant chemotherapy consisted of bortezomib, dexamethasone, thalidomide, and melphalan 200 mg/m2 (VDT-Mel). Prior to HSCT, the recipient was seropositive for T. gondii. Antimicrobial prophylaxis consisted of fluconazole, acyclovir, and ciprofloxacin. He developed low-grade fevers, headaches, and impaired memory following engraftment on day +17 after second transplant.
A new thalamic lesion with edema and mass effect on the third ventricle and faint peripheral enhancement was found on a contrasted brain magnetic resonance imaging (MRI). Blood cultures were negative. CSF (cerebrospinal fluid) demonstrated elevated protein, normal glucose, and a WBC count 94/µL with predominantly lymphocytes (62) and histiocytes (32). Cytology showed no tumor cells. Cerebrospinal fluid (CSF) demonstrated elevated protein (245 mg/dl), normal glucose (48 mg/dl), and a WBC count 94/µL with predominantly lymphocytes (62/µL) and histiocytes (32/µL). Cytology showed no tumor cells. CSF bacterial and fungal cultures, cryptococcal antigen assay, herpes simplex virus, enterovirus, human herpes virus 6, Ebstein-Barr virus, and JC virus polymerase chain reactions (PCRs) were negative. HIV screen (antigen/antibody testing), fungal serologies, and Quantiferon-TB Gold were negative. CSF and serum toxoplasma PCR were positive. The patient was neutropenic (ANC < 500/µL) for approximately seven days following both transplants, but lymphopenia lasted for a prolonged period.
The patient was empirically started on sulfadiazine and pyrimethamine with leucovorin. He developed crystal nephropathy with renal failure while on sulfadiazine and was changed to clindamycin and pyrimethamine for 8 weeks. Response to treatment was favorable at 1-month follow-up, as assessed by clinical and radiological means. Subsequently, he was switched to pyrimethamine, leucovorin, and atovaquone as secondary prophylaxis for toxoplasma infection while he was lymphopenic during ongoing maintenance chemotherapy. The patient died 30 months after HSCT due to progressive myeloma with no evidence of toxoplasmosis.
|
pmc-6252228-1
|
A 28-year-old right hand dominant male with no significant past medical history presents to the emergency department following a motor vehicle accident in which his car was hit from the rear by another vehicle. Patient could not precisely remember the events leading up to the accident, but he thought he might have had a brief episode of loss of consciousness prior to the incident and was awakened when his airbag deployed. He complained of headaches and mild soreness in his neck but denied pain in any other parts of his body. He denied previous seizure, mood changes, or visual disturbances. He does not drink alcohol but smokes tobacco and marijuana occasionally. On further questioning, he reported that over the preceding 2 months, he had been hearing music playing in his ears persistently and loud enough to interfere with his daily activities. He works as an office clerk. Vital signs were normal and physical examination including detailed neurologic examination was otherwise unremarkable. Laboratory tests revealed normal complete blood count and basic metabolic panel; lactic acid was elevated at 6.0 meq/L (normal 0.6-1.4 meq/L). His blood alcohol concentration was <0.01 g/dL (normal <0.01 g/dL) and his urine drug screen was negative for drugs of abuse. Computed tomography (CT) scan of the chest, abdomen, and pelvis was normal. CT head revealed left temporal lobe white matter edema with findings consistent with underlying mass. MRI brain (Figures and ) revealed 2.0 × 1.9 × 2.1 cm homogenous intra-axial neoplasm of the left temporal lobe with reactive vasogenic edema. He was initially commenced on high dose steroids and Levetiracetam for seizure prophylaxis. Following further blood work-up, he gave consent and was taken to the operating room (OR) where left temporal craniotomy for resection of brain mass was performed.
Histopathologic examination demonstrates a proliferation of markedly pleomorphic cells, with variation in sizes and shapes. Some cells are multinucleated (). Lymphocytic infiltration is focally seen (). Neoplastic cells show prominent eosinophilic cytoplasm, with intracytoplasmic vacuoles (). Mitotic figures are readily identified, greater than 5 per 10 high-power fields. No evidence of microvascular proliferation or of necrosis is observed. On immunohistochemical assessment, there is diffuse reactivity for S-100 protein () and GFAP (), supporting astrocytic origin. Immunoreactivity for neurofilament is also observed (). The Ki-67 proliferative index is moderately elevated (). The morphologic features, in consideration of immunophenotype, are diagnostic of anaplastic pleomorphic xanthoastrocytoma (WHO grade III). Further molecular testing revealed the presence of a BRAF V600E mutation.
His musical hallucinations resolved postoperatively and given the rarity and likelihood of recurrence of the tumour, he was referred to a tertiary cancer center for further management.
|
pmc-6252232-1
|
A 69-year-old man presented in 2008 with a macrocytic anemia; the hemoglobin level was 10.2 g/dl (13.0–18.0 gr/dl), MCV (mean corpuscular volume) 114 fl (80–97 fl), the white cell count including differential count was normal, the platelet count was 155,000 (normal), and the reticulocyte count was decreased (0.7%) in the presence of an anemia. The serum B12, serum folate, serum thyroid-stimulating hormone level, and liver function tests were normal. A bone marrow biopsy was consistent with refractory anemia and blasts <5%. He was treated with a trial of anabolic steroids without success.
In 2011, the patient was referred to the hematology department, with a hemoglobin level of 7.0 gr/dl, MCV 123 fl, a platelet count of 50,000, and reticulocyte count of 0.9%. At this time, serum B12, serum folate, serum TSH, and liver function tests were normal. The ferritin was 446 ng/ml (increased), percent saturation of transferrin was 31.8 (normal), a serum protein electrophoresis was normal, urine analysis was normal, and serum PSA level was 0.699 ng/ml (the patient had previously undergone a transurethral resection for benign prostatic hyperplasia in 1996). Repeat bone marrow biopsy, after red cell and platelet transfusions, revealed a hypercellular bone marrow, with dysplastic features, including micromegakaryocytes and blasts <5%. Cytogenetic study revealed a normal karyotype. The diagnosis remained that of myelodysplasia of refractory anemia ().
To alleviate the symptoms of anemia, monthly transfusions of red cells were needed to maintain the hemoglobin level above 8.0 gr/dl. The platelet count continued to decrease but apart from some superficial bruising and platelet transfusions were not required.
In October 2013, the patient noted painless macroscopic hematuria lasting for two days, his full blood count showed a hemoglobin level of 7.5 gr/dl; a platelet count of 13,000, a normal white cell count, and tests of the coagulation showed a normal prothrombin and activated partial thromboplastin times.
Urine analysis confirmed hematuria, and urine culture was negative for infection. An excretion CT scan of the urinary system revealed a lobulated lesion in the region of the left ureteral meatus with a diameter of 16 mm (Figures and ).
With transfusions of red cells and platelets, the patient underwent a diagnostic cystoscopy, which revealed five bladder tumors ().
With transfusional support of both red cells and platelets, a TUR-B (transurethral resection bladder tumor) was performed, with resection of the five tumors and electrocoagulation of the tumor bed. The largest tumor had a diameter of 1 cm and was located at the left urethral opening. Pathological analysis revealed a low-grade superficial urothelial papillary carcinoma without evidence of bladder wall infiltration.
After resection of the tumor, the patients' transfusional requirements decreased, but he remained transfusion dependent. A second cystoscopy two months later showed the tumor resection scar; in the trigonal area, a small papillary growth was resected, and the area around the scar was electrocauterized. The growth was a superficial low-grade papillary carcinoma.
Intravesical BCG, weekly for 6 weeks, then two-weekly for 4 doses, and then monthly for 1 year, starting in March 2015 and finishing in July 2016. Repeat cystoscopy in October 2015 and February 2017 showed no tumor recurrence.
While receiving BCG, the hemoglobin and platelet counts increased, achieving normal levels and the patient became transfusion independent. One month after completing BCG treatment, both the hemoglobin level and platelet counts were decreasing, and six months later, the patient had a hemoglobin level of 8.5 gr/dl, MCV 113, and a platelet count of 26,000 (). A repeat bone marrow biopsy showed a hypocellular bone marrow, with between 30% and 50% of the intertrabecular spaces being occupied by hematopoietic tissue (). There was a significant decrease in the erythroid precursors (<10%) and megakaryocytes. There was no evidence of fibrosis or infiltration of the bone marrow with a CD34 count of less than 5%.
Immunohistochemistry detection of cells staining positive for pancytokeratin and EpCAM was negative, indicating the lack of micrometastatic disease ().
Since February 2017, the patient is once again transfusion dependent for packed red cells.
|
pmc-6252241-1
|
A 72 year old Caucasian female was admitted to our clinic with unilateral chronic symptoms of blurred vision, increased tearing, and foreign body sensation. The clinical examination revealed periocular dermatochalasis, lower eyelid laxity, dry eye disease, chronic blepharitis, chronic conjunctivitis, and superficial punctate keratopathy. A diagnosis of right eye upper eyelid ptosis and lower eyelid involutional entropion was made. A decision for the synchronous surgical treatment of both conditions followed, by using the lateral tarsal strip procedure and the levator resection technique. During the preoperative assessment the levator muscle's function and the severity of the ptosis were evaluated. The levator function was good and the severity of the ptosis was moderate (3mm). In addition, the clinical evaluation of the lower eyelid showed no punctum horizontal displacement.
The surgical procedure for both conditions was carried out under local anesthesia. The lower eyelid entropion was treated first. A lateral canthotomy and transection of the lateral canthal tendon were performed. The eyelid was then divided into anterior and posterior lamellae. A tarsal strip was fashioned from the posterior lamella and was then sutured to the periosteum at the lateral orbital wall, by using 5-0 ethibond double spatula sutures. Wound closure was achieved, by using absorbable 6-0 sutures (Vicryl), first for the orbicularis muscle and finally for the skin tissue.
Then the levator resection technique was performed in order to correct the ptosis. An incision, through the skin and orbicularis muscle, along the eyelid crease, was made. Dissection through the orbital septum followed. A double armed 5-0 ethibond suture was then placed through the anterior surface of the upper tarsus. Each of the needles was then placed through the healthy/homogenous part of the levator aponeurosis. The procedure led to the augmentation of the levator function.
The patient received topical antibiotic and corticosteroid treatment postoperatively for 10 consecutive days and was clinically assessed thereafter for the following 2 years.
The procedure performed resulted in the restoration of the upper and lower eyelid normal anatomy as well as in a significant reduction of the patient's discomfort and symptoms. During the 1-year and 2-year follow-up clinical assessments no clinical signs of recurrency were found. The pre- and postoperative (at 1 year follow up) VFQ-25 questionnaire revealed significant improvement of the patient's quality of life (questionnaire developed by RAND and funded by NEI and translated and validated in the Greek language according to the instructions by RAND).
|
pmc-6252320-1
|
A 50-year-old male was sent to our hospital due to sudden loss of consciousness, his Glasgow coma scale (GCS) score was 3 on admission. Neurological examination showed patient has no reaction to painful stimuli, fixed dilated pupils, fixed eyes in midposition without any ocular movement and no corneal reflexes on both eyes; the cranial nerves I, II, V, VII, VIII, and lower cranial nerves are unable to detect. Two hours before admission, the patient had experienced sudden palpitations and was sweating, he felt dizzy and suddenly lost consciousness. There was no nausea or vomiting prior to the onset of the symptoms. Head computed tomography (CT) revealed pontine hemorrhage. The patient had a history of hypertension for 10 years and coronary heart disease for 5 years and often did not take his medication regularly. On admission, there was a sudden decline in his breathing. We immediately performed tracheal intubation, and adjusted the ventilator to synchronized intermittent mandatory ventilation mode. We performed direct puncture of the pons to drain the hematoma. The patient's respiration subsequently improved and his GCS score recovered to 6. We adjusted the ventilator to continuous positive airway pressure mode. All procedures were completed within ~30 min. After the procedure, the fixed dilated pupils change into diminished response. However, the cranial nerves I, II, V, VII, VIII, and lower cranial nerves are still unable to detect. After the condition of the patient stabilize, he was transferred to another local hospital. Unfortunately, the patient died 1 month later, due to pulmonary infection.
|
pmc-6254142-1
|
A fifty-one years old delivery man with no significant past medical history, presented with progressive unsteadiness and bilateral lower limb weakness over a period of six months which eventually became worse resulting in inability to walk without a walking aid. In addition, he also had chronic neck stiffness for over two years for which he did not seek any intervention. He denied any problem with hand dexterity such as difficulty to use chop sticks, button his shirt or pick up a coin.
A thorough neurological examination was performed which showed significant signs of myelopathy in the lower limbs. In particular, the medical research council’s (MRC) grading of muscle power in both lower limbs (L2-S1) was 4/5. Deep tendon reflexes (DTRs) including the knee jerk and ankle jerk were exaggerated on both lower limbs. Babinski’s sign was positive bilaterally. The patient had difficulty in getting up from an armless chair and was unable to perform a tandem gait. Interestingly, he did not demonstrate any upper limb signs. His sensory-motor function and reflexes were normal in both upper limbs and Hoffman’s sign was negative.
The Japanese orthopaedic association (JOA) score was 14/17 indicating grade 1 disability. Xrays of the cervical spine showed signs of degeneration with loss of cervical lordosis and anterior osteophytes involving C3 to C6 (). Computerised tomography (CT) and magnetic resonance imaging (MRI) were suggestive of an extensive OPLL from C3-T3 causing significant canal compromise (Fig. and ). No cord signal changes were noticeable. A diagnosis of extensive cervico-thoracic OPLL causing myelopathy was made. Considering the clinico-radiological presentation and to prevent any further deterioration of neurological status, immediate surgery was planned.
Dexamethasone 8mg was given intravenously prior to the procedure. A C3-T3 posterior decompression and instrumented postero-lateral fusion using C3-C6 lateral mass screws and T1- T3 pedicle screws was done with O-Arm navigation guidance (Medtronic StealthStation™ S7 surgical navigation system, Medtronic Inc., CO, USA). To reduce the risk of C5 palsy by sudden extensive posterior migration of the cord, laminectomy was performed in three stages with the aid of somatosensory evoked potential (SSEP) and motor evoked potential (MEP) neuro-monitoring. Firstly, the lamina was removed en-bloc from C3-C5 with the aid of a high speed burr. The spinal cord was then allowed to adapt to its new position for 10 minutes before performing similar en-bloc laminectomy for C6-C7. After waiting for another 10 minutes, the final laminectomy for T1-T3 was performed in a piece meal fashion. Postero-lateral fusion was done using local bone chips and bone substitutes. The operative time was 5 hours.
The post-operative period was uneventful and the patient was subjected to physiotherapy as tolerated. He was advised to wear a cervical collar for the first six weeks and was allowed to walk with support from the second post operative day. There was no wound related issues and his upper limb power remained full with no signs of C5 palsy. He was discharged in two weeks. Rehabilitation protocols were continued and his condition gradually improved. At one month follow up, he was able to walk without support and had normal power in both lower limbs. He was followed up every month for the first six months and every 6 months thereafter. He was back to work in 6 months and his X-ray suggested adequate postero-lateral fusion. Throughout his follow-up for 2 years, there was no evidence of implant loosening and his condition remained stable ().
|
pmc-6255712-1
|
A 44-year-old lady presented to the emergency department with vomiting for four days and uncontrolled hypertension. Blood pressure was poorly controlled (230/130 mmHg) due to the erratic use of antihypertensives over the past 25 years. She also had lower back pain, managed by non-steroidal anti-inflammatory drugs (NSAIDs). Her review of systems was only significant for chronic renal insufficiency and a past history of liver abscess.
On examination, she was afebrile but hypertensive, with a blood pressure of 180/100 mmHg and a pulse of 160/min. She was alert and oriented to time, place, and person. The respiratory and cardiovascular examination yielded no findings; however, on abdominal examination, there was right upper quadrant tenderness on palpation. Her liver and spleen were not palpable.
Lab investigations of the patient were as shown in Table . She had an abnormal white blood cell count with neutrophilia and elevated platelet count, creatinine, blood urea nitrogen (BUN), calcium, and phosphate levels. She also had abnormal liver function tests.
The abdominal ultrasound revealed a 10.3 x 9.6 x 6.7 cm heterogeneous cystic lesion in the right lobe of the liver. A computed tomography (CT) scan of the chest and abdomen showed that the suspected liver mass was actually an 11.3 x 8.0 cm heterogeneous mass in the right adrenal gland with a normal liver and spleen (Figure ). There were no signs of lymphadenopathy. Lytic lesions were noted in the left acetabulum, sacrum, right and left iliac blades, and the lumbosacral and thoracic spine (Figures -). The chest showed two nodules in the left lung and multiple lytic lesions in the scapula and multiple vertebrae (Figures -).
Ovarian and gastrointestinal pathologies were ruled out; however, lactate dehydrogenase (LDH) was elevated (1080 IU/L). The patient was tested for 24-hour urine vanillylmandelic acid (VMA), which was significantly high at 175 mg (normal < 13.6 mg). She was investigated for the possibility of endocrine syndromes, such as multiple endocrine neoplasias (MEN) I or II; however, her parathyroid hormone levels were within normal limits at 37.30 pg/mL and an ultrasound of her thyroid gland showed no focal lesions. Thyroid stimulating hormone (TSH) and calcitonin were within normal limits.
Her blood pressure was controlled using α- and β-blockers. A biopsy of the left acetabular lesion was positive for cytokeratin AE1/AE3, chromogranin A, and neuron-specific enolase (NSE) antibodies, consistent with the diagnosis of metastatic pheochromocytoma. Due to the extent of her disease, excision of her primary lesion was not done, and she was started on chemotherapy with cyclophosphamide, vincristine, and dacarbazine. Her clinical course was complicated with febrile neutropenic episodes, and she died three months later, secondary to aspiration pneumonia and sepsis.
|
pmc-6255713-1
|
Patient presentation
A 21-year-old female college student with a history of asthma presented to the neurosurgery office for consultation complaining of mass on the left side of her skull associated with increasing size over the past two days and intermittent headaches for the past two to three weeks. The left-sided headache included her upper jaw. She also reported a history of cellulitis and urinary tract infections, in addition to surgical removal of an impacted wisdom tooth in 2016. Family history was positive for diabetes mellitus (DM) type II in both her father and her grandfather and colon cancer and coronary artery disease in her other grandfather. She admitted to drinking alcohol one to two times per week but denied use of tobacco and drugs. At the time, she was taking Viorele birth control to regulate her menses. Review of systems was otherwise negative.
Clinical findings
Physical examination revealed a well-developed, well-nourished female in no acute distress. She was awake, alert and oriented to person, place and time with a Glasgow Coma Score (GCS) of 15. A soft left frontal lesion associated with tenderness to palpation, without erythema or drainage, was palpated slightly off midline. Her cranial nerves II-XII were intact. Strength in both upper and lower extremities was five out of five bilaterally. No pronator drift was noted. Sensation to light touch was intact bilaterally in V1-3, upper extremity, and lower extremity distributions. Her reflexes were symmetric. Her gait was within the normal limits.
Imaging
CT of the head without contrast (Figure ) revealed an expansive soft tissue mass with beveled edges and dimensions measuring approximately 3.5 x 2.1 x 2.3 cm in the left frontal calvarium. Bony destructive changes of the inner and outer table of the left frontal calvarium were apparent. Extension of the mass into the dura was noted. The mass did not extend into the brain parenchyma. Magnetic resonance imaging (MRI) scans of the brain revealed a lytic bony lesion with dimensions measuring 2.4 x 2.9 x 2.9 cm, which was centrally T2 hyperintense (Figure ), peripherally enhancing, and T1 hypointense (Figure ). There appeared to be no hemodynamically significant effects of the mass on intracranial circulation. The mass did not appear to be hypervascular, and the bridging veins adjacent to the inner table of the calvarium were not hypertrophied or invaded by the mass. The adjacent dura of the left frontal lobe was thickened and enhancing, as well as the overlying subgaleal aponeurosis. MRI of the spine with and without contrast revealed a T2 hyperintense lesion measuring 0.6 cm x 0.8 cm in the sagittal plane at the anterior superior C7 vertebral body, a small hyperintensity at the superior T5 level, and a small hyperintensity at the S1 level, all of which were likely benign hemangiomas. X-ray bone survey of the whole body revealed no other suspicious lytic bone lesions.
Surgical management
A left craniectomy for biopsy and resection of the calvarial lesion was performed (Figure ), and the skull convexity was reconstructed with a titanium mesh. Three specimens were examined for pathological characterization. The patient was discharged home the following afternoon and scheduled for follow-up in two weeks for wound check.
Pathology report
The first specimen was received fresh and consisted of two pieces of pink fibromembranous tissue measuring 1.2 x 0.3 x 0.1 cm and 1.1 x 0.3 x 0.1 cm. The entire specimen was submitted for frozen section. The second specimen was received in formalin and consisted of a pink-purple tissue weighing 3.1 g and measuring 3.5 x 1.5 x 1.0 cm. The surface was partially covered with a semi-translucent membrane. The entire second specimen was submitted in four cassettes for histologic examination. The third specimen was fixed in 10% buffered formalin and consisted of a fragment of a bone measuring 5.0 x 4.0 cm excised to the depth of 0.9 cm. A depression measuring 3.7 x 2.5 cm with the depth of 0.8 cm was observed at the center of the bone. Representative sections of the third specimen were submitted in two cassettes for decalcification. The tumor was seen extending into bone (Figure ). All three specimens were diagnosed as GCTB, as they contained osteoclast-like multinucleated giant cells, round mononuclear cells, and spindle-shaped, fibroblast-like mononuclear cells (Figures -).
|
pmc-6255714-1
|
A 71-year-old Caucasian female (otherwise asymptomatic) was noted to have persistent pancytopenia since 2015. On January 12, 2017, she underwent multiple myeloma staging workup. Lab findings revealed hemoglobin: 9.9 mg/dl; platelets: 110 x 103/μl; absolute neutrophils: 1.08 x 103/μl; lymphocytes: 1.00 x 103/μl; monocytes: 0.18 x 103/μl; lactate dehydrogenase (LDH): 177 units per liter (U/L); alkaline phosphatase: 129 U/L; calcium: 9.3 mg/dl; and creatinine: 0.8 mg/dl. The serum immunoassay revealed an elevated immunoglobulin A (IgA) of 1,857 mg/dl with a low immunoglobulin M (IgM) of 26 mg/dl and a normal immunoglobulin G (IgG) of 626 mg/dl. There was a monoclonal spike (M-spike) (1.8) of the IgA kappa (IgA-K) type in the serum. The serum level of free kappa light chain was elevated at 350.06 and the kappa/lambda ratio was 30.18. The plasma b-2 microglobulin was high at 3.86. A bone marrow (BM) examination showed 30 - 40% IgA-K monoclonal plasma cells, and she had multiple lytic bone lesions in the skull, pelvis, humerus, and femur. She was diagnosed with MM, Stage II (International Staging System). Fluorescence in situ hybridization (FISH) revealed a loss of 1 p in 94.5% of cells, trisomy of chromosome 7 in 85% of cells, trisomy of chromosome 9 in 76.5% of cells, trisomy of chromosome 11 in 88.5% of cells, gain of 3' immunoglobulin heavy-chain gene (IgH) in 87.0% of cells, along with a gain of 1q21, trisomy of chromosomes 7, 9, and 11, and partial gain of IgH.
She received three cycles of carfilzomib, lenalidomide, and dexamethasone (KRd) for remission induction from January 30 to March 2017 followed by high-dose melphalan and auto-HSCT as consolidation on July 6, 2017. She was started on maintenance LEN (10 mg/day) in October of 2017. Approximately three months after starting LEN maintenance on January 24, 2018, she complained of acute onset jaw pain that evolved into abnormal movements, such as continuous lip-smacking, blinking of eyes, frowning, and chewing movements, which further progressed to uncontrolled verbal tics and difficulty with speech over the next few days. One week after the onset of her symptoms, the LEN maintenance therapy was stopped. Gradually, her symptoms worsened and were managed with lorazepam. She underwent a neurological evaluation, including computerized tomography (CT) scan and magnetic resonance imaging (MRI) of the brain, which was negative. The abnormal involuntary movement scale (AIMS) was used to detect TD and also to follow the severity of TD symptoms over time. The rating of two or higher is diagnostic for TD. Table shows the patient's score on her first neurologist visit.
Her symptoms were managed with diphenhydramine, diazepam, and later with clonazepam. Her home medications included acyclovir, aspirin, dexamethasone, ibuprofen, loratadine, magnesium oxide, and lorazepam. None of these are associated with drug-induced tardive-like dyskinesia/dystonia. The patient continued clonazepam, leading to a gradual improvement in her symptoms. Since January 24, 2018, she has not taken LEN, and her disease is in a remission phase.
|
pmc-6256072-1
|
A 22-year-old male presented in the outpatient department with complaints of gradual diminision of vision in both eyes since eight years. His best-corrected visual acuity was 20/ 120 in both eyes. On slit lamp examination, both corneae were clear, pupillary reactions were normal and Intraocular Pressure (IOP) was 14 mm Hg in Right Eye and 12 mm Hg in Left Eye. Lens showed anterior and posterior lenticonus with anterior sub capsular lenticular opacity in both eyes (). Distant direct ophthalmoscopy revealed oil droplet reflex in both eyes (). Fundus examination revealed macular flecks in both eyes ().
Systemic evaluation revealed sensorineural deafness bilaterally which was confirmed on audiometry. Blood investigation showed raised uric acid levels. Proteinuria was found on urinanalysis. Ultrasonography of right kidney revealed nephritis (). All these findings suggested the diagnosis of Alport’s syndrome. The patient was referred for evaluation and management by a nephrologist and an ear, nose, and throat specialist. The decision for cataract surgery was deferred for the time being and he was kept under for regular follow-up .
|
pmc-6256076-1
|
A 14-year-old female child was admitted to our retina department with a complaint of decreased vision. Her vision had deteriorated in the last few months. Her visual acuity was 2/ 10 in the right eye and 5/ 10 in the left eye. The examination of the anterior segment and measurement of the intraocular pressure were unremarkable. Fundus examination revealed typically atrophy of the retina, and the choroid (). OCT imaging showed CME, particularly in the right eye (). Serum ornithine level was 570µmol/ L (reference range 20-84µmol/ L).
The parent of the patient gave permission to the treatment only for the right eye. 40 mg/ 1cc TA was injected into the posterior sub-Tenon space.
The visual acuity in the right eye increased to 4/ 10 one month after the treatment. The intraocular pressure measurements did not show significant increase. OCT showed an apparent recovery of the CME (). The fellow eye remained stable during this time period.
|
pmc-6256078-1
|
A 52-year-old Caucasian man was admitted in another ophthalmological service for sudden decrease of visual acuity in the left eye after a brief period of physical effort associated with an event with emotional impact. The eye examination was inconclusive and the patient presented the next day in our clinic. General symptoms were absent at admission.
The patient had no relevant family history or ophthalmological afflictions but he declared a history of anxiety, depression and increased arterial blood pressure.
At presentation, his best-corrected visual acuity was 20/ 20 (0 logMAR) for the right eye and 20/ 200 (1 logMAR) for the left eye with a small spherical hyperopic correction. The intraocular pressure by applanation tonometry was 17 mmHg in the right eye and 12 mmHg in the left eye.
The findings on external examination and slit-lamp examination of the anterior segment were within normal limits aside from a relative afferent pupillary defect in the left eye.
The fundus of each eye was examined after pharmaceutical mydriasis with 0.5% tropicamide and 10% phenylephrine hydrochloride ophthalmic solutions (,). The optic nerve disc in the left eye was imprecisely delimited, had a swollen appearance and the cupping was absent, this aspect being highly suggestive for papillary edema. The retinal arteries were narrowed, the veins were turgescent, and the vessels had a concentric arrangement. The macula appeared within normal limits. The ophthalmoscopy examination of the right eye showed no relevant changes.
The ultrasonography for the left eye showed a widening (right red arrow) of the hypoechogenity representing the optic nerve sheath, which confirmed the optic nerve edema. The right eye appeared to have no pathological changes ().
Perimetry was assessed by a Humphrey Visual Field Analyzer, central 24-2 threshold program, with a size III white stimulus. Reliability indices were very good in visual fields from both eyes. It demonstrated absolute scotoma in all quadrants of the left eye and it was normal for the right eye ().
Optical coherence tomography (OCT) of the optic nerve showed a pseudo thickening of the nerve fiber layer of the left eye (). Both the macula and the ganglion cell layer analysis revealed no pathological changes in both eyes (,).
Based on this clinical and paraclinical investigations we established the working diagnosis of Papillary Edema of the left eye. The patient was further investigated in order to establish the etiological diagnosis and the course of treatment.
We further recommended a series of clinical, paraclinical and laboratory complementary investigations. The complete blood count and erythrocyte sedimentation rate had normal values; the biochemistry showed a moderate dyslipidemia and the VDRL was negative. There were no significant findings at the neurological exam, that included a cerebral MRI, and the ENT exam showed the existence of a septum deviation irrelevant to the patient’s ophthalmologic pathology. The endocrinological examination was within normal limits. However, the cardiologic and the dental exam revealed three possible precipitant factors: medically controlled stage II arterial hypertension, atheromatosis, and ipsilateral chronic apical periodontitis.
Considering these complementary investigations, we established the diagnosis of Non-Arteritic Anterior Ischemic Optic Neuropathy of the left eye.
The differential diagnosis included causes of papillary pseudo-edema, as well as papillary edema [-].
Given the above exclusion criteria and the fact that the patient presented with several elements common for NA-AION, our positive diagnosis was confirmed. The patient was male, aged between 40 and 60, with acute, monocular, painless and non-progressive visual acuity and visual field loss, relative afferent pupillary defect and papillary edema with spontaneous remission after 8 weeks [,]. It was commonly associated with hyperlipemia and atherosclerosis, both of them being present in this patient.
The patient was followed-up for 10 months. He received vasodilator therapy (Nicergolin 30mg/ day), antithrombotic (Acetylsalicylic acid 75mg/ day) and neuroprotector treatment and we recommended the treatment of the cardiologic and oral pathologies.
The right eye presented with no pathological changes during the follow-up period.
For the left eye, the best corrected central visual acuity increased from 20/ 200 (1 logMAR) (in October 2016) to 20/ 20 (0 logMAR) (in December 2016). The aspect of the optic disc improved with the remission of the edema in 3 weeks, but, unfortunately, with occurrence of pallor of the disc at 2 months of follow-up (). The caliber of the veins also showed an improvement (black arrows).
Perimetry was assessed at every visit and during the follow-up period there was a mild improvement of the visual field, with the improvement of the central island of vision ().
The evolution of the optical nerve OCT for the left eye showed an initial regression of the papillary edema at 3 weeks (), followed at 2 months by the thinning of the retinal nervous fiber layer. At 6 months, there was a diffuse aspect of the lesions, expanding circumferentially without affecting the nasal quadrant.
The macular thickness suffered a progressive decrease, especially in the periphery: upper quadrant from 272µ to 240µ, lower quadrant from 270µ and nasal quadrant from 295µ to 250µ. The central macular thickness decreased from 263µ to 252µ (). The macular changes occurred because of the atrophy that gradually appeared in the ganglion cell layer ().
The best corrected central visual acuity improved progressively in 3 weeks from 20/ 200 (1 logMAR) to 20/ 20. The visual field had undergone minor changes with the gain of a central island of sight. The optic nerve and ganglion cell atrophy was identified by OCT at 2 months after the beginning of the disease, evolved insidiously for 6 months, and then it stabilized.
|
pmc-6256121-1
|
A 2-day old, male baby, product of a normal vaginal delivery, had a right hemi-scrotal swelling since birth, with bluish scrotal pigmentation (Figure ). General examination was normal. Color Doppler Ultrasound of the scrotum, showed absence of vascularity in the right testis and maintained blood flow to the other one (Figure ). Right scrotal exploration was done through midline raphe incision and revealed right extra-vaginal testicular torsion with a necrotic testis (Figure ). Contralateral exploration showed extra-vaginal testicular torsion with normal vascularity (Figure ).
Right orchiectomy with 3-point fixation of the left testis was performed. Histological examination confirmed right testicular coagulative necrosis. Follow-up at 3 months showed that the left testis was normal in size with good blood flow by Doppler signal.
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.