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pmc-6336613-1
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A 5-year-old Chinese girl presented with left elbow pain and elbow swelling lasting 3 days. She was diagnosed with an acute injury and was sent to Tongji Hospital, where she received an X-ray which revealed a proximal fracture of the ulna with an associated radial head dislocation (Fig. A and B). She was diagnosed with acute Monteggia fracture. She received manipulation and closed reduction and was treated with a cast (Fig. C– H). She recovered without any complications (Fig. I–J).
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pmc-6336613-2
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A 7-year-old Chinese boy presented with right elbow pain and elbow swelling lasting 1 day. He was diagnosed with an acute injury and was sent to Tongji Hospital, where he received an X-ray which revealed an oblique ulna fracture with an associated radial head dislocation (Fig. A). He was diagnosed with acute Monteggia fracture. He received manipulation and closed reduction, and was treated with an ESIN combined with a cast (B–E). This patient had an uneventful recovery (F– G).
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pmc-6336613-3
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A 6-year-old Chinese boy presented with limited forearm rotation and elbow flexion. He had experienced an acute injury 2 months ago, and was sent to Tongji Hospital, where he received an X-ray which revealed a consolidated fracture of the ulna with an associated radial head dislocation (A and B). He was diagnosed with neglected Monteggia fracture (Fig. C). He received an open reduction of the radial head and osteotomy of the ulna and was treated with a LCP combined with a cast (Fig. D and E). This patient had an uneventful recovery (Fig. F–H).
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pmc-6336619-1
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A 28-year-old man and a former wife underwent labor induction as a prenatal examination revealed the woman was carrying a fetus with spina bifida. After a remarriage, the man and his current wife underwent labor induction as prenatal examination in the midtrimester revealed the woman was carrying a fetus with a meningocele. Both husband and wife had been in good health and neither of their extended families had a reproductive history of fetal malformations, genetic diseases, or exposure to adverse environmental factors. Laboratory tests were performed. G-banding of chromosomes showed no abnormalities in the husband or wife. In the husband, peripheral blood homocysteine level was 47.8 umol/L (reference value: 0–15 umol/ L) and folate level was 3.58 ng/mL (reference value: 3.1–19.9 ng/mL); evaluation of semen quality showed asthenospermia and sperm abnormalities; a sperm DNA fragment test showed a high proportion of sperm had significant DNA fragmentation; and analysis of the MTHFR gene revealed the MTHFR C677T homozygous TT genotype. In his current wife, peripheral blood homocysteine level was 8.10 umol/L (reference value: 0–15 umol/L) and folate level was 18.31 ng/mL (reference value: 3.1–19.9 ng/mL); and analysis of the MTHFR gene revealed the MTHFR C677T heterozygous CT genotype. The husband received homocysteine-lowering therapy. Three months later, his current wife became pregnant, and a healthy infant was spontaneously delivered at term.
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pmc-6336619-2
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A 31-year-old man and his wife underwent labor induction to terminate 3 pregnancies due to hydrocephalus, anencephaly, and cheilopalatognathus. Both husband and wife had been in good health and neither of their extended families had a reproductive history of fetal malformations, genetic diseases, or exposure to adverse environmental factors. Laboratory tests were performed. G-banding of chromosomes showed no abnormalities in the husband or wife. In the husband, peripheral blood homocysteine level was 54.0 umol/L and folate level was 3.96 ng/mL; and analysis of the MTHFR gene revealed the MTHFR C677T homozygous TT genotype. In his wife, peripheral blood homocysteine level was 7.90 umol/L and folate level was 16.71 ng/mL; and analysis of the MTHFR gene revealed the MTHFR C677T heterozygous CT genotype (Table table 1).
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pmc-6336628-1
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A 35-year-old woman was admitted to the emergency room of our institution because of hematochezia in July 2015. Computed tomography (CT) showed a 9.3 × 4.5-cm predominantly hypodense lesion within the left lobe of the liver (Fig. A) and thickening of the rectum. There was no definite evidence of metastatic disease in the chest. Pathology of the liver biopsy specimen indicated moderately differentiated adenocarcinoma with necrosis involving the liver parenchyma, and immunohistochemistry for mismatch repair proteins was positive for MutL Homolog 1, MutS Homolog 2, MutS Homolog 6, and Protein Homolog 2. Rectal biopsy indicated moderately differentiated adenocarcinoma. Therefore, she was diagnosed with rectal cancer with metastasis to the liver. The patient provided consent for treatment, and she was administered fluorouracil 1600 mg/m2, leucovorin 500 mg/m2, and irinotecan 100 mg/m2 every week.
She experienced pain in her upper arm and back after the first round of chemotherapy. After the second round of chemotherapy, she had developed severe anginal chest pain, with ST elevations on electrocardiography, and we discontinued chemotherapy. Because of the chest pain, we replaced the fluorouracil with capecitabine. However, any dose higher than 1500 mg (3 pills) a day caused anginal chest pain and shoulder ache. Therefore, we reduced the dose of capecitabine to 1500 mg (3 pills) a day every 2 weeks, with 1 week off, with irinotecan 100 mg/m2 on day 1 and bevacizumab 5 mg/kg at 200 ml/h for 30 min every 2 weeks. She received chemotherapy for approximately 6 months and experienced no further chest pain.
The liver lesion showed a significant response to chemotherapy. CT on April 27, 2016 showed an ill-defined heterogeneous lesion with dystrophic calcification in segment 3 of the liver associated with capsular retraction measuring approximately 3.2 × 4.5 cm (down from 9.3 × 4.5 cm since July 2015) (Fig. ). Moreover, the CT also showed focal thickening of the rectosigmoid junction with multiple surrounding subcentimeter lymph nodes. In July 2016, she underwent liver tumor and rectal resection. The pathology indicated a moderately differentiated adenocarcinoma, 2.3 cm in size, extensively invading the perirectal adipose tissue (American Joint Committee on Cancer, 7th Edition classification: ypT3N2aM1a). Immunohistochemistry indicated the tumor was positive for caudal-related homeobox transcription factor 2 and cytokeratin 20 expression (Fig. ). There were metastases in 5 of 21 lymph nodes. She received radiation therapy to the rectal area, and based on the pathology, we administered 3 months of chemotherapy prior to the colostomy reversal. She received the same modified regimen and did not experience any further chest pain.
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pmc-6336730-1
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A 65~70-year-old woman reported transient vertigo for 6 years, which had become more frequent up to 2–3 times a month after initiation of estrogen treatment for breast cancer 2 years before. The vertigo had lasted about 30 min and accompanied ear fullness and hearing difficulty on the left ear. Her spouse reported that her vertigo frequently had occurred during sexual intercourse. Interictal examination showed no spontaneous or triggered nystagmus during positional maneuvers or after horizontal head-shaking. Pure tone audiometry (PTA) showed fluctuating left sensorineural hearing loss, especially in the lower frequency range. The results of bithermal caloric tests, cervical and ocular VEMPs, and brain MRIs and MR angiography were normal. She was diagnosed with Meniere's disease (MD), and the vertigo spell markedly decreased with medication including 12 mg of betahistine, 25/25 mg of spironolactone/hydrochlorothiazide per day.
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pmc-6336730-2
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A 55~60-year-old man presented recurrent vertigo and tinnitus for 3 years. The patient had been taking silodosin 4 mg a day for benign prostate hyperplasia. The vertigo lasted about 30 min, and accompanied nausea, vomiting, and tinnitus in the right ear. The vertigo frequently occurred during sexual intercourse, but also during exercises such as jogging and swimming. Examination showed no spontaneous, GEN, or positional nystagmus, but left-beating nystagmus after horizontal head-shaking and during vibratory stimuli applied to either mastoid or brow. PTA documented fluctuating right sensorineural hearing loss especially involving the low-frequency with a pure tone average of 55 dB. The results of bithermal caloric tests, cervical and ocular VEMPs were normal. Brain MRIs taken elsewhere were normal. The patient was diagnosed with MD, and showed no occurrence of vertigo for more than 1 year with medication of 12 mg of betahistine, 60 mg of nimodipine, and 25/25 mg of spironolactone/hydrochlorothiazide per day.
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pmc-6336730-3
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A 40~45-year-old previously healthy woman presented with recurrent spontaneous vertigo and ear fullness for 2 months. Two months before presentation, the patient had experienced spontaneous vertigo and ear fullness in the left ear lasting nearly 12 h. After 1 month, the vertigo occurred during sexual intercourse, especially while the patient was experiencing orgasm. It lasted 4 h in association with nausea/vomiting, urination, ear fullness and hearing loss in the left ear. The patient did not show spontaneous nystagmus with or without fixation. Provocative maneuvers including head-shaking, vibration, positional changes, and hyperventilation did not evoke any nystagmus. Bedside HITs were normal in either side. Pure-tone and speech audiometry was normal. MRIs including images for the inner ear and MR angiography did not reveal any responsible lesion. The patient was placed on 48 mg of betahistine and 80 mg of Ginko Biloba per day. The patient did not report further attacks of vertigo during 3 months of follow-up.
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pmc-6336730-4
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A 30~35-year-old woman presented with recurrent vertigo, tinnitus and autophony for 1 month. The vertigo mostly occurred during sexual intercourse or while listening to loud music. Examination showed no spontaneous, GEN, HSN, or positional nystagmus. However, vibratory stimuli applied to either mastoid or brow evoked downbeat nystagmus with a counter-clockwise (from the patient's view) torsional component while tone burst stimulation of the left ear produced mainly upbeat and clockwise torsional nystagmus. Hyperventilation did not produce any nystagmus. Video HITs were normal for all semicircular canals. PTA showed low-frequency sensorineural hearing loss in the left ear. The threshold of cervical VEMPs was reduced to 65 dB in the left ear, 20 dB lower than that in the right ear. Temporal bone CT disclosed dehiscence of left superior semicircular canal (Figure ).
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pmc-6336730-5
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A 50~60-year-old man presented with recurrent vertigo during sexual intercourse for 3 years. The vertigo developed exclusively during coitus. The patient denied any vertigo in association with other physical activities, except mild dizzy feeling when he was fasting. The vertigo was mostly spinning for 20–30 min and was associated with nausea and vomiting. The patient also had throbbing headache in the frontal area along with the vertigo, but denied associated diplopia, tinnitus, ear fullness, weakness, or sensory change. Video-oculography showed no spontaneous or GEN. However, he developed left-beating nystagmus after horizontal head-shaking, but without VIN or positional nystagmus. Bedside HITs were normal. The results of bithermal caloric tests, PTA, and ocular and cervical VEMPs were normal. Temporal bone CT and brain MRIs revealed high position of right jugular bulb with a proximity to the vestibular organ, and encroachment on the cochlear and vestibular aqueducts (Figure ).
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pmc-6336730-6
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A 30~35-year-old woman had suffered from recurrent vertigo for 1 year. The vertigo developed whenever the patient had coitus, especially during the orgasm, and disappeared within 5 min. The vertigo spells were mostly associated with nausea, vomiting, urge of defecation, and hyperacusis. Otherwise, the patient denied any tinnitus or headache. Similar episodes also occurred during other physical activities including swimming or intense exercise. Examination showed no spontaneous or evoked nystagmus. Bedside HITs were normal in all directions. The patient did not have spontaneous, GEN, VIN, or positional nystagmus, but showed right-beating nystagmus after horizontal head-shaking. PTA, rotatory chair, and bithermal caloric tests were normal. No underlying causes were identified in this patient.
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pmc-6336730-7
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A 45~50-year-old man presented with recurrent vertigo and tinnitus for 5 years which lasted about 1 h. The attacks had occurred exclusively during sexual intercourse or masturbation, but not during any other physical activities. The patient showed normal findings of bedside and laboratory neurotological evaluation that included video-oculography, PTA, and temporal bone CT.
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pmc-6337048-1
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A 68-year-old man presented with atraumatic tenderness of the right upper arm. An X-ray demonstrated a fracture of the proximal humeral diaphysis with a hazy appearance and a wide transition zone, raising suspicion of a pathologic fracture (Figure ). On computed tomography (CT) of thorax and abdomen, there was an enhancing lesion at the site of the fracture. An exophytic mass at the mid and lower pole of the right kidney was also demonstrated (Figure ). Findings were in keeping with a renal cell carcinoma (RCC) with hypervascular bone metastasis resulting in a pathologic fracture, which demanded intramedullary nailing. Because of significant risk of operative bleeding from the bone metastasis, an angiography with endovascular embolisation was performed. On angiography, at least three feeding branches arising from the axillary artery to the bone metastasis at the fracture site were identified (Figure ). Due to extensive venous shunting, particles could not be used for embolization. The feeding vessels were embolised using coils (Figure ). Surgery on the fracture was subsequently performed with no notable bleeding.
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pmc-6337049-1
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A 31-year-old nulliparous woman presented to the emergency room with a one-month history of relapsing diffuse abdominal pain and bloating. She was non-febrile, and vital signs were stable. Abdominal examination revealed distension and diffuse tenderness. Blood analysis on admission showed increased total white blood cell count (11.470/mm3) and C-reactive protein (39.9 mg/l).
Abdominal computed tomography (CT) demonstrated a heterogeneous right adnexal mass measuring 57 × 53 mm with fatty components and calcification (Figure , arrow), consistent with a mature cystic teratoma of the ovary. Rupture of the teratoma was suspected because of a bulging fatty nodule on the anterior side of the lesion and ascites underlining thickened and enhancing peritoneal layers (Figure , arrows). A similar 2 cm left adnexal mass was observed (Figures and ). These findings are suggestive of bilateral ovarian teratomas with right rupture and chemical peritonitis.
Accordingly, the patient underwent laparoscopic surgery the day after admission, which confirmed the radiological findings. Right ovarian cystectomy and peritoneal lavage were performed. The patient recovered well.
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pmc-6337051-1
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An 18-year-old woman of African origin presented to the emergency room for progressive stress dyspnea and expiratory wheezing for one year, worsening for six months. It was associated with thoracic tightness and productive cough, without hemoptysis or fever. Perinatal history was unremarkable, and no history of similar symptoms was found in any of her siblings. Neither ongoing treatment nor smoking habits were reported. Clinical exam revealed decreased breath sounds to the right pulmonary base with dullness to percussion and diminished vocal fremitus on the right side. Pulse oximetry was 100%, and neither tachycardia nor tachypnea were noticed. Plain chest radiography showed absence of inflated right lung with mediastinal shift towards the same side (Figure ). Contrast-enhanced chest computed tomography (CT) demonstrated complete atelectasis of the right lung with short-blind right main bronchus and compensatory hyperinflation of the left lung; proposed diagnosis was congenital bronchopulmonary malformation (pulmonary hypoplasia) (Figures and ). Lung function tests confirmed restrictive lung disease, with FEV reaching 40% of the predicted value and FVC 43%. Bronchoscopy revealed a fibrotic scar area on the right side of the trachea with dimple at the place of opening of right main bronchus.
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pmc-6337690-1
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A 35-year-old left-handed man who works as a mechanic and firefighter presented to our institution with hand pain and cold intolerance for 3 months. He was referred by a local vascular surgeon who had made the diagnosis of hypothenar hammer syndrome (HHS) following an angiogram of the right upper extremity showing complete occlusion of the ulnar artery (). On initial examination, Doppler signals of the ulnar artery, superficial palmar arch, and ring/small digital arteries were absent in the right hand. Subsequently, the patient developed an ulcer on his right long fingertip after minor trauma that had not healed over a 4-week period. He suffered ischemic hand pain and severe cold intolerance. After conservative management failed, the decision was made for operative intervention. We proposed using an arterial graft versus a venous graft in order to improve long-term patency. Our plan was to utilize the descending branch of the lateral circumflex femoral artery (DLCFA) as an arterial graft.
Intraoperatively, Doppler ultrasound revealed a segmental thrombotic defect extending from the superficial palmar arch, across the Guyon canal, extending 10 cm proximally in the forearm. The ulnar artery was resected back to healthy bleeding pulsatile flow, resulting in a segmental defect of 12 cm. Final pathology of the submitted ulnar artery segment revealed organizing thromboembolus in the lumen, which at the time of resection was adherent to the lumen.
The DLCFA was harvested, with care taken to prevent injury to the lateral femoral cutaneous nerve. A 12-cm segment of the artery was circumferentially dissected, as well as approximately 2 cm of 2 branching vessels at the distal end of the segment that would be used to reconstruct the superficial palmar arch and common digital arteries with one graft. With the arterial graft completely dissected, it was ligated both distally and proximally.
The arterial graft and recipient vessels were examined under the operative microscope. The proximal anastomosis was preformed first. The two branches at the distal end of the arterial graft were anastomosed to the superficial palmar arch stump, and common digital artery to the ring and small finger, respectively. A bolus of 5000 units of heparin was given intravenously before release of the microvascular clamps. Adequate pulsatile flow was achieved though the graft and confirmed with Doppler ultrasound to each finger ( and , Video 1). The hand was then irrigated, and the ulnar nerve was explored to ensure that no injury had taken place. The skin was closed, and the patient's hand was placed into a dorsal splint.
The patient remained in the hospital overnight for monitoring and was discharged the following morning on oral aspirin as the only anticoagulant. On follow-up examination 2 days later, strong Doppler signals were elicited at the ulnar artery, palmar arch, and radial and ulnar aspect of each digit. At 1 month, Doppler signals remained strong and the ulcer previously present on the right long fingertip had completely resolved (, Video 2). During this visit he reported to be asymptomatic and has had complete resolution of the cold intolerance and burning pain of his right hand.
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pmc-6337715-1
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This patient was an otherwise healthy 15-years-old male. He was 1.73 m tall and weighed 65 kg. He is a junior high school student, but often could not attend class. Since the age of 12, he suffered from excessive sleepiness episodes of sudden muscular weakness triggered by laughing, visual and auditory hallucinations while falling asleep, and sleep paralysis. His Epworth Sleepiness Scale was 15. The Hamilton Rating Scale for Anxiety (HAMA) score was 5, and the Hamilton Depression Rating Scale (HAMD) was 4. Physical examination, regular laboratory examination, and brain magnetic resonance imaging findings were normal. His parents did not seek medical treatment for him before coming to our hospital. A polysomnographic examination showed that his sleep efficiency was 95.5%. Non-rapid eye movement 1 (NREM1) was 11.5%, NREM2 was 34.9%, NREM3 was 27.8%, REM was 25.9%, apnea hypopnea index (AHI) was 1.3/h, periodic limb movement disorder index (PLMDI) was 2.1/h, and REM sleep without atonia (RSWA) was observed. His multiple sleep latency test (MSLT) showed a mean MSLT sleep latency of 3.5 min, <8 min, and the presence of 5 REM sleep-onset periods while napping (Figure ).
In case 1, cerebral autoregulation before treatment showed obvious impairment. The phase difference (evaluation index of cerebral autoregulation) was 25 degrees in the left and 22 degrees in the right (reference value: 50–90 degrees in both cerebral hemispheres). The patient was diagnosed with narcolepsy type 1 and venlafaxine was administered (75 mg/d once a day in the morning). One month after treatment, his clinical symptoms were relieved, and his Epworth sleep scale was 10. His cerebral autoregulation improved and became normal (phase difference, 61 degrees in the left and 63 degrees in the right). After 6 months, the patient discontinued the drug, and his cataplexy symptoms reappeared. His Epworth sleep scale was 12. Simultaneously, cerebral autoregulation deteriorated (phase difference, 38 degrees in the left and 41 degrees in the right). The patient received venlafaxine again (75 mg/d once a day in the morning). After 1 month, his clinical symptoms were relieved, his Epworth sleep scale was 9, and his cerebral autoregulation again improved and became normal (phase difference, 58 degrees in the left and 53 degrees in the right, Figure ).
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pmc-6337715-2
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This patient was an otherwise healthy 17-years-old male. He was 1.70 m tall and weighed 59 kg. He was in high school. For 1 year, he had suffered from excessive sleepiness characterized by multiple irresistible naps even when ambulating, episodes of sudden muscular weakness triggered by laughing, and visual hallucinations while falling asleep. The patient and his parents reportedly did not seek medical attention. His Epworth Sleepiness Scale was 15. His HAMA was 6 and HAMD was 4. Physical examination, regular laboratory examination, and brain magnetic resonance imaging results were normal. A polysomnographic examination showed that his sleep efficiency was 82.3%. NREM1 was 17%, NREM2 was 43%, NREM3 was 9.5%, REM was 24.5%, AHI was 1.5/h, PLMDI was 12.1/h, and RSWA was not observed. His MSLT showed a mean MSLT sleep latency of 2.6 min, fewer than 8 min, and the presence of 4 REM sleep-onset periods while napping (Figure ).
Cerebral autoregulation before treatment markedly decreased compared to the normal level (phase difference, 24 degrees in the left and 25 degrees in the right). The patient was diagnosed with narcolepsy type 1 and administered fluoxetine treatment (20 mg/d once a day in the morning). After 1 month of treatment, his clinical symptoms were relieved, and his Epworth sleep scale was 9. His cerebral autoregulation had the tendency to rise (phase difference, 45 degrees in the left and 40 degrees in the right). At the end of a 6-months follow-up period, his cataplexy symptoms occurred occasionally, and his Epworth sleep scale was 11. Simultaneously, the phase difference was 46 degrees in the left and 42 degrees in the right. The patient received venlafaxine (75 mg/d once a day in the morning) during the following month. His clinical symptoms were relieved, and his Epworth sleep scale was 10. His cerebral autoregulation improved clearly (74 degrees in the left and 68 degrees in the right, Figure ).
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pmc-6337756-1
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We present a case of a 59-year old female patient who developed amyopathic DM after receiving monthly omalizumab injections for severe asthma, followed by a Respirologist. Omalizumab had been prescribed as per current Canadian indications for severe, steroid-refractory asthma. The patient had no previous history of musculoskeletal or cutaneous problems, and her atopic history entailed asthma with dust mite sensitization. She had a 3-year history of chronic oral corticosteroid use, with greater than nine courses per year. After discontinuation of oral corticosteroids, followed by 6 months of omalizumab therapy, she developed an erythematous, intensely pruritic cutaneous eruption. For the next 3 months, with each subsequent dose of omalizumab, the eruption worsened, and omalizumab was discontinued. The patient presented to the Dermatology clinic and was noted to have violaceous erythema in a photo-exposed distribution. A skin biopsy was performed to rule-out DM or cutaneous lupus; however, only non-specific features of dermatitis were seen on histopathology. The patient started treatment with topical corticosteroids; however, neither this nor gabapentin and a combination of antihistamines (diphenhydramine, cetirizine, and hydroxyzine at maximal doses) gave her relief of the rash or intense pruritus. On follow-up clinical exam 8 months later, she had erythematous papules overlying the dorsal metacarpophalangeal joints, violaceous erythema affecting the face and upper eyelids, photo-distributed poikiloderma on the neck and shoulders, and scattered telangiectasia (Fig. ). Hand exam indicated cuticular hypertrophy and peri-ungual erythema. There was symmetrical upper and lower extremity proximal muscle weakness (Medical Research Council grade 4+/5 at deltoids and hips).
Further laboratory investigations at the 8-month follow up visit included repeat skin biopsy and bloodwork for rheumatologic markers. A repeat skin biopsy showed interface dermatitis with focal thickening of the basement membrane. There was dermal lymphocytic infiltration and focal increase in dermal mucin. Laboratory investigations revealed a positive antinuclear antibody (titer > 1:640) with a speckled pattern. Screening by the extractable nuclear antigen (ENA) panel, which includes the myositis specific antibodies anti Ro/SSA, anti Jo-1, and anti-Scl70, was negative. Anti-histone antibodies were not detected. There was no eosinophilia. Creatine kinase, lactate dehydrogenase, aspartate aminotransferase, alanine aminotransferase levels and C-reactive protein were also within normal limits. Taken together, these findings supported the clinical impression of amyopathic DM.
The patient was referred to Rheumatology clinic and started on oral corticosteroid therapy (prednisone 1 mg/kg/day) (now 8 months after stopping omalizumab). Within days of starting prednisone, the patient’s eruption and pruritus improved dramatically. Prednisone was tapered slowly over 6 months, and methotrexate and hydroxychloroquine were started as steroid sparing agents. A malignancy screen including serial complete blood count and differential, computed tomography of the thorax, abdomen, and pelvis, Papanicolaou test, colonoscopy, and mammogram, was negative. There was no evidence of ILD, cardiac arrhythmia, conduction abnormalities, or pulmonary hypertension. Barium swallow was normal. As there was no objective evidence of muscle weakness on serial physical exams by a Rheumatologist, electromyography studies were not pursued. The patient is currently followed in Rheumatology and Respirology clinics. No new biologic agents have been added to her treatment regimen.
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pmc-6337767-1
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A 29-year-old female complained of the right sternoclavicular joint and back pain accompanied limited activities and pustulosis-like rashes on the palms for 1 month without any clear predisposing cause. She took analgesic medicine by herself (an unknown analgesic), while without obvious effect. Physical examinations on admission revealed pustules on the palms and multi-erythematous nodules on the lower legs. There were also redness, swelling and tenderness in the right sternoclavicular joint area and tenderness in the lower back.
Laboratory assays revealed an elevation of the erythrocyte sedimentation rate (ESR, 87 mm/h, normal range 0-20 mm/h), levels of C-reactive protein (CRP, 28.30 mg/L, normal range 0–7.44 mg/L), prothrombin time (12.7 s, normal range 9.4–12.5 s), fibrinogen assay (5.13 g/L, normal range 2-4 g/L) and complement C4(40 mg/dL, normal range 16-38 mg/dL), and a slightly decline of hematocrit (33.9%, normal range 35–45%). In addition, rheumatoid factor(RF) and human leukocyte antigen B27(HLA-B27) tests were negative. The results for the remainder of her biochemistry and hematology were within normal range, including immunoglobulins, antinuclear antibody (ANA) spectrum and tumor markers.
Computerized tomography (CT) scans of the thoracic(T) and lumbar spine revealed multiple vertebral lesions (T8–11 and T2 vertebral bodies) while without the sternum and sternoclavicular joints (Fig. ). Magnetic resonance imaging (MRI) scans of thoracic spine and ankle demonstrated multiple vertebral lesions (T4, T8–11 and L2 vertebral bodies), right ankle arthritis and pathological fractures (T9–10 vertebral bodies) (Fig. and Fig. ), same as CT scans. We diagnosed the patient with SAPHO syndrome. For further diagnosis, a whole body bone scan (WBS) was performed 4 h following the injection of 20 mCi 99mTc-methylene-diphosphonate(Fig. ). Anterior and posterior views of the WBS illustrated intense uptake at the proximal end of the right clavicle, left first front rib, T8–11 vertebral bodies, right ankle joint and pubic symphysis. The thoracolumbar Single-Photon Emission Computed Tomography (SPECT)/CT fusion imaging showed a low density of bone in the same location and different levels of radioactivity uptake around the lesioned bone (Fig. ). Pathological section of tibial lesions demonstrated massive neutrophil infiltration in bone marrow(Fig. ).
A diagnosis of SAPHO syndrome was made. For the vertebral fractures, the patient was treated conservatively with the thoracolumbar brace and bed rest for 3 months. Besides, the patient was treated with dynastat (80 mg, BID) until the pain eased or disappeared and Compound Troxerutin and Poreine Cerebroside Injection(10 ml, BID)for improving blood circulation on the fourth and tenth days. And Technetium [99Tc] Methylenediphosphonate Injection (99Tc-MDP, Product Name: Yunke Injection, 3 sets, QD)in combination with betamethasone sodium phosphate injection (20 mg, QD) was introduced on the tenth day for treating SAPHO syndrome. The patient experienced a moderate decrease in the intensity of the pain without any anodyne. On the seventeenth day, betamethasone sodium phosphate injection (12 mg, QD) was introduced again. There were normal ESR (8 mm/h) and CRP (0.36 ng/L), improved dermatoses and no relapse of joint pain on the eighteenth day. The patient was discharged on the twentieth day. During the 6-month telephone follow-up of the patient (phones are followed up every half month), there was no relapse of joint pain according to the patient’s description, however, the patient refused to review for economic reasons.
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pmc-6337778-1
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A 46-year-old male was admitted to our hospital with a 1-week history of fever and sore throat. His past medical history included hypereosinophilic syndrome diagnosed at age 45 years. An extensive workup failed to disclose any underlying diseases. The patient had been receiving oral prednisolone (8 mg/day) and azathioprine (100 mg/day) regularly for approximately nine months, and his hematological status was stable. He denied any recent travel, illicit drug use or exposure to arthropods. He is married and reported monogamous sexual activity with his wife.
On initial presentation, his temperature was 39 °C, his blood pressure was 145/103 mmHg, his pulse rate was 111 beats per minute and regular, his respiratory rate was 20 breaths per minute, and his percutaneous oxygen saturation was 99% on ambient air. Physical examination revealed throat congestion, bilaterally enlarged tonsils with exudates, tender cervical lymphadenopathy in the left posterior triangle, and mild epigastric tenderness. An examination of the genital area revealed no abnormal findings such as an ulcer or blisters, and the remainder of the examination was unremarkable.
The laboratory data at admission demonstrated bicytopenia (white blood cell count: 1400 /μL; platelet count: 13.4 × 104 /μL), elevated liver enzyme levels (aspartate aminotransferase (AST): 1558 U/L; alanine aminotransferase (ALT): 1007 U/L; lactate dehydrogenase (LDH): 2688 U/L; alkaline phosphatase: 265 U/L; total bilirubin: 0.9 mg/dL), and hyperferritinemia (11,480 ng/ml; normal range: 3.6–114.0 ng/ml). Serologic tests for hepatitis A, B, and C viruses and human immunodeficiency virus (HIV) were negative. Serum antibodies confirmed past infection by the Epstein-Barr virus, cytomegalovirus, and varicella zoster virus. Computed tomography demonstrated prominent hepatosplenomegaly and multiple low-density areas in the liver. An upper gastrointestinal endoscopy revealed multiple vitiligo lesions in the esophagus. A bone marrow smear showed hypocellular marrow with histiocytes (3.0%) and hemophagocytosis (Fig. ). HLH was diagnosed based on the diagnostic criteria for HLH []. Given that the presenting symptom of pharyngotonsillitis is an initial manifestation, we suspected that the HLH was caused by an infectious etiology. There was no evidence of either bacterial or fungal infection in the blood and urine cultures or serological examinations. The patient received meropenem (1 g every 8 h) and intravenous methylprednisolone pulse therapy (1 g/day) on hospital days 1–3.
On day 5, despite initial improvement of the fever and sore throat, multiple, new, small bullae developed on the patient’s face, trunk, and extremities (Fig. ), and the liver enzyme level remained elevated (AST: 935 U/L; ALT: 959 U/L; LDH: 2140 U/L). Additional testing showed positivity for HSV-specific immunoglobulin M (IgM) and immunoglobulin G. Disseminated HSV infection was suspected, and intravenous acyclovir (10 mg/kg every 8 h) and methylprednisolone pulse therapy were administered again on days 5–7. A subsequent direct antigen test of a bullae sample was positive for HSV-2, and a polymerase chain reaction (PCR) assay of the peripheral blood mononuclear cells (PBSCs) detected HSV-2 DNA. Moreover, tonsillar and esophageal biopsies revealed viral inclusion bodies. Immunohistochemical staining and quantitative real-time PCR from the formalin-fixed paraffin-embedded tissues confirmed the presence of HSV-2 but not HSV-1 (Fig. ). The methods for immunohistochemical staining [] and quantitative real-time PCR to test for HSV-1, − 2 [], and β-actin [] were described previously. Based on these results, disseminated HSV-2 infection with multiple bullae, tonsillitis, and esophagitis was diagnosed. Hepatic involvement was also suspected. It is worth noting that the patient denied any past history of oral or genital HSV infection. A lumbar puncture was not performed due to the lack of neurological deficits or symptoms.
The patient improved steadily on a two-week course of intravenous acyclovir. His hematological status and liver function normalized, and his cutaneous skin lesions resolved. He was discharged on day 22 in good general health and continued to receive oral valacyclovir for viral suppression due to his immunosuppressed status. Prednisolone was tapered gradually to 12.5 mg on discharge. No recurrence has been observed 7 months after the treatment.
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pmc-6337783-1
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The first patient was a 63-yr-old female with Body Mass Index (BMI) 19.8 kg/m2. She presented to our hospital for DBS implantation. Unfortunately, she suffered severe kyphosis and could not tolerate supine position. The second patient was a 56-yr-old male with BMI 24.4 kg/m2 suffering from severe back pain and anxiety. Both patients refused MAC for surgery. The third patient was a 64-yr-old male and the BMI was 28.7 kg/m2. This patient had severely uncontrollable motor symptoms and Obstructive Sleep Apnea syndrome (OSA) (Apnea Hypopnea Index is 33). His OSAS was triggered and the head movements associated with snoring also hampered the preoperative MRI scan when we gave dexmedetomidine to reduce the body movement. Only after the OSAS was eliminated by placing a nasopharyngeal airway to overcome the upper airway obstruction, the MRI scan was finished successfully. This made MAC is a poor choice for his DBS surgery. All three patients agreed with our proposed IEI and AAA technique. Written consent from patients and Institutional Review Board approval were obtained. During preoperative interview, we described the protocol of arousing, extubation, macrostimulation testing and reintubation in great details. On the day of surgery, The Leksell stereotactic head frame was placed under local anesthesia before entering the operation room.
After entering the operation room, dexmedetomidine 0.4μg/kg was given within 15 min. We kept the first patient in the supine position with multiple cushions (Fig. , Part A). The other two patients were placed in routine supine position (Fig. , Part B). The oxygen saturation, expired carbon dioxide, ECG and invasive blood pressure were monitored. One nostril was sprayed with 1% ephedrine, then the nasal and oral mucosa were anesthetized with 1% dyclonine gel. After glycopyrrolate 0.2 mg and palonosetron 0.25 mg i.v., general anesthesia was induced with dexamethasone 5 mg, fentanyl 2μg/kg, propofol 1-2 mg/kg and atracurium 1 mg/kg. After 3 min of mask ventilation, the laryngeal and tracheal mucosa was anesthetized with 2% lidocaine (5 ml) through a disposable endolaryngeal anesthetic tube sprayer (Henan Tuoren Medical Device Co., Ltd., China) under video laryngoscope guidance (Aircraft Medical Ltd., Ediburgh, United Kindom). A nasotracheal tube (ID 6.5 for male and ID 6.0 for female) was advanced past the vocal cords and the distance between the nare and the epiglottis was recorded. General anesthesia was maintained with 4 mg/kg/h propofol, remifentanil 0.1μg/kg/min and dexmedetomidine 0.2μg/kg/h. Local anesthesia to operative sites was provided with 0.325% ropivacaine by surgeons.
Ten minutes before the anticipated microelectrode recording (MER), dexmedetomidine, propofol and remifentanil were discontinued. After patient’s spontaneous respiration was restored, we deflated the cuff of endotracheal tube and injected atomized 2% lidocaine 3 ml via a catheter mount and a simple atomizer (Jiangsu Sona Care Medical Science-Technology Co., LTD, Nantong, China) (Fig. , Part G). The endotracheal tube was retracted to the top of epiglottis (at level of the tongue base) under the guidance of FB-10 V FOB (HOYA Corporation, PENTAX Lifecare Division, Tokyo, Japan) and kept there as a nasopharyngeal airway. When the patient woke up fully, MER, macrostimulation testing and language communication were performed. All three patients opened their eyes upon commands (7 ± 0.66 min) and their spontaneous respiration restored within 5–10 min after stopping sedation. They all tolerated nasal endotracheal tube well (Fig. , Part C). Both blood pressure and heart rate were significantly higher than asleep stage. Compared with baseline blood pressure, the fluctuation of mean arterial pressure (MAP) of the first patient and third patient were within 30% and we did nto give any treatment. The MAP of the second patient was higher than 30% baseline blood pressure, we gave nicardipine (0.1 mg) and esmolol (0.5μg/Kg) intermittently to maintain hemodynamic stability (the total dose of nicardipine was 0.3 mg, esmolol was 100μg).
The neurophysiologists finished MER successfully and were satisfied with the quality of signals. During the macrostimulation testing, all the patients were calm and cooperative, able to move fingers, limbs, to count numbers upon instructions and to communicate orally with the operator easily (Fig. , Part C, D, E).
Once the electrophysiological test was complete, atomized 2% lidocaine 3 ml via nasotracheal tube was injected again. Midazolam 0.04 mg/kg, fentanyl 2μg/kg, propofol 1 mg/kg were utilized to sedate patients and maintained spontaneous respirations. The glottis was identified with FOB and oxygen was supplemented through the catheter mount. Once the FOB entered the trachea, the nasotracheal tube was passed over the FOB into the trachea (Fig. , Part F). Rocuronium 1 mg/kg, remifentanil 0.5μg/kg and propofol 1 mg/kg were injected intravenously to induce general anesthesia. The rest of the procedure, such as implantation of electrodes and pacemakers, was continued under general anesthesia. The reintubation guided by FOB were successful on the first attempt in all three patients (Fig. , Part F).
Total AAA time were 235–280 min, including first asleep stage 80–100 min, wake-up test time of 58–70 min, and the second asleep stage 97–110 min. No patient had coughing or body movement. One patient suffered mild nose bleeding but had no significant impact on nasotracheal reintubation guided by FOB. No patient suffered hypoxia during the whole process. All patients were extubated within 10mins after operation without complication. Anesthesia follow up on postoperative day 2 demonstrated that all patients were satisfied with their anesthesia experiences.
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pmc-6337829-1
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A 25-year-old Indian man presented with a large abdominal mass that had been increasing in size for 2 months. He complained of significant weight loss. There was no history of similar complaints or any intervention in the past. The remaining medical history, family history, and psychosocial history were unremarkable. On examination, his abdomen was hugely distended and overlying skin was unremarkable. A firm-to-hard mass could be palpated in the right lumbar, right iliac, and umbilical regions. A computed tomography (CT) scan revealed a large 18 cm-sized mass in his transverse colon, suggestive of gastrointestinal stromal tumor (GIST; Fig. ).
A wide local excision was performed, and the specimen was sent for histopathology. On gross examination the tumor was large and globular, measuring 20 × 18 × 10 cm, and was seen to be arising from the wall of the intestine. Cut surface showed the presence of solid gray-white areas along with areas of hemorrhage and cystic change (Fig. ).
Histopathology sections showed sheets and fascicles of elongated to spindle-shaped tumor cells, showing a moderate degree of pleomorphism and atypia. The individual tumor cells had elongated hyperchromatic nuclei and a mild to moderate amount of cytoplasm. Mitosis, including atypical forms, was seen. Focal areas of tumor necrosis were seen. The tumor reached up to serosal resected margin (Fig. ).
On morphology, a diagnosis of malignant GIST seemed to be likely, and immunohistochemistry (IHC) for CD-117, Dog-1, and CD34 was applied for confirmation. However, to our surprise, these markers came out negative. Further, the morphology was reviewed and a differential diagnosis of leiomyosarcoma and MPNST was taken into consideration, for which an IHC panel comprising smooth muscle actin (SMA) and S-100 was put up. The tumor cells showed positivity for S-100 and were negative for SMA, thus ruling out leiomyosarcoma. Again, this led to two differentials, one being gastrointestinal autonomic tumor (GANT) and the other being MPNST. However, GANT is positive for CD-117 and may be negative for S-100; even when it shows S-100 positivity, it is uniformly positive. Moreover, the patchy positivity of S-100, as was seen in our case, is characteristic of MPNST (Fig. ).
Hence, a final diagnosis of MPNST of the transverse colon was given. The resected margins as well as resected lymph nodes were free of the tumor. However, a peritoneal metastatic tumor deposit was identified grossly, and confirmed on histopathology, signifying an advanced stage tumor, with higher stage of the neoplasm and poorer prognosis of our patient.
Postoperatively, he was discharged and advised to review with medical and radiation oncologists. He came back for the reversal of the stoma and restoration of bowel continuity. Postoperative contrast-enhanced CT (CECT) of his abdomen did not show any evidence of residual or recurrent tumor. Further, he was operated on for dismantling of the colostomy fistula, resection of 5 cm of the colon confirmed (by frozen section) to have margins negative for tumour, and colocolic anastomosis. His postoperative recovery was uneventful. The final histopathology confirmed the absence of any residual disease, thus eliminating the need for adjuvant therapy.
He has been followed up for 6 months, and is presently doing well (Additional file : Case timeline).
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pmc-6338395-1
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A 78-year-old phenotypic male presented with acute onset of urinary retention and urosepsis. The patient reported a long history of hesitancy and frequency with recent abdominal pain and hematuria for one-week duration. Attempts to place a transurethral catheter failed, and a supra-pubic catheter was inserted. The patient was treated for urosepsis with intravenous ciprofloxacin and piperacillin/tazobactam in the intensive care unit and showed clinical improvement. His past medical history was significant for infertility as well as an unknown abdominal surgical procedure as a very young child. The patient reported puberty at age 14, normal sexual activity and regular erections up to two months prior to presentation. The urology service attempted to perform bedside cystoscopy, which demonstrated a normal distal urethra and obliteration of the entire lumen on entrance into the bulbar urethra. A computed tomography (CT) scan was performed showing bilateral adrenal masses consistent with myolipomas unchanged in size from a 2001 CT scan and an enlarged pelvic mass arising from what was thought to be the adnexa compressing the urinary bladder. On physical examination, the patient was noted to have hypospadias and absent testicles (Figure ). The patient had undergone an unknown procedure as a child but did not have any further information about his medical history and no further follow-up was ever done per the patient report.
Based on these clinical and radiographic findings the patient underwent karyotype testing and was found to have mosaic 45,X/47,XXX/46 XX karyotype during his admission. Based on the abnormal laboratory values, the endocrinology service was consulted, and he was diagnosed with CAH due to 11-hydroxylase deficiency. His lab values confirmed the diagnosis of 11-hydroxylase deficiency showing elevated estradiol, testosterone, androstenedione, dihydroepiandrosterone-sulfate (DHEAS), 11-deoxycortisol, 17-hydroxyprogesterone, and adrenocorticotropic hormone (ACTH) using the reference ranges for female patients (Table ).
Given the pelvic mass, he was taken to the operating room for a combined procedure by the urology and gynecologic oncology teams. The procedure was initiated with an adrenal biopsy followed by cystoscopy. The cystoscopy revealed a posterior passage off the urethra toward a remnant vagina, cervix, and uterus (Figure ).
An exploratory laparotomy, total abdominal hysterectomy, bilateral salpingo-oophorectomy, omental biopsy, and bilateral pelvic lymph node dissection was performed. The intraoperative findings included an enlarged uterus densely adherent to the bowel and omentum. The bilateral ovaries appeared normal. The cervix was replaced by a tumor extending to the serosa and protruding into the vagina but not involving the blind narrow vaginal pouch. Pelvic lymph nodes were enlarged but the remainder of the abdominal and pelvic surveys were negative for obvious tumor involvement. The pathology from this procedure showed benign adrenal tissue and mucinous intestinal-type adenocarcinoma of the endocervix with the absence of HPV. His final diagnosis was Fédération Internationale de Gynécologie et d'Obstétrique (FIGO) stage IIIB mucinous adenocarcinoma of the endocervix with positive pelvic lymph nodes. The staining of the tumor was positive for epithelial membrane antigen (EMA), cytokeratin seven (CK7), p63 (patchy), estrogen receptor (patchy, weak nuclear staining), monoclonal carcinoembryonic antigen (CEA) (focal), and mucicarmine. The tumor was negative for p16, cluster of differentiation 10 (CD10), calretinin and uroplakin.
The patient recovered as expected and was discharged home. He received adjuvant chemotherapy and radiation with weekly cisplatin and whole pelvic external beam radiation at 45 Gray (Gy) followed by an external tumor bed boost to 59 Gy, given the inability to treat with standard vaginal brachytherapy following whole pelvic radiation.
One month following completion of chemo radiation, the patient was noted to have new uptake near the bladder on a positron emission tomography (PET) scan. The patient was offered chemotherapy but declined further treatment and presented one month later with ST segment elevation myocardial infarction (STEMI) and acute kidney injury (AKI). He would have required dialysis, which he did not wish to pursue. He was discharged to hospice and died three days later.
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pmc-6338398-1
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A 49-year-old woman with Trisomy 21 had incidental bilateral internal cerebral artery (ICA) aneurysms identified on head computed tomography angiography (CTA) during the workup of new memory loss. Dedicated cerebral angiography was recommended to further characterize the ICA aneurysms. Anteroposterior (AP) and lateral angiographic runs through the right common carotid artery showed a direct takeoff of the right VA just distal to the origin of RCCA (Figures -), with the frontal view of the right subclavian artery roadmap showing an absence of the origin of the right VA from it (Figure ). Although not documented on a dedicated aortic arch angiogram, this patient also had an aberrant right subclavian artery.
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pmc-6338400-1
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A 30-year-old Caucasian man presented for evaluation of a pigmented lesion on the left side of his chin. He requested the removal of the dark lesion for cosmetic reasons. A cutaneous examination showed a 2 x 2 millimeter brown papule.
A 4 millimeter punch excision was performed. Microscopic examination revealed benign-appearing nests of melanocytes in the dermis and along the basal layer of the epidermis, establishing the diagnosis of a compound nevus. In addition, a prominent hair follicle showed a small sebaceous gland in the hair follicle papilla (Figure ).
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pmc-6338400-2
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A 30-year-old Caucasian man presented for evaluation of multiple, small 2-3 millimeter papules on his face. His dermatologic history is significant for erythromelanosis follicularis faciei—an uncommon sporadic pigmentary disease of undetermined etiology characterized by follicular papules and erythematous hyperpigmented patches on the face. A papule on his chin was biopsied.
Microscopic examination showed follicular plugging and a small keratinocytic dermal tumor containing shadow cells; these findings were consistent with keratosis pilaris and a pilomatricoma (Figure ). In addition, ectopic sebaceous glands were seen within multiple hair follicle papillae (Figure ).
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pmc-6338402-1
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A 70-year-old gentleman with Crohn's disease presented with an incarcerated ventral hernia that required urgent surgical intervention. Following repair, he returned two weeks later with an acutely distended abdomen and early sepsis. Emergent laparotomy revealed a contaminated abdomen with a small bowel perforation in a segment of the bowel in Crohn's disease. He returned to the operating room for exploration and bowel resection and primary anastomosis. The incision was left open due to severe contamination. In the operating room, instillation therapy was initiated with NPWTi-d along with ROCF-CC with normal saline with a 20-minute dwell time and continuous negative pressure at -125 mmHg. ROCF-CC was chosen for the mechanism of action to "fracture" the necrotic debris and perhaps avoid the need for an additional operative intervention. Normal saline was chosen to reduce bacterial burden and contain the cost of care (Figures -).
Following three days of NPWTi-d with ROFC-CC, there was significant wound improvement with increasing granulation tissue and less necrotic debris (Figure ).
However, the patient developed a leak at the anastomosis requiring another emergent operation. During this operation, which was performed as "damage control", the general surgeon and colorectal surgeon agreed it would be best to avoid another anastomosis and the small bowel was delivered to the skin as a controlled fistula.
The wound team and plastic surgery were consulted to assist in managing a contaminated abdominal midline incision and wound with a high-output fistula in a patient who was now critically ill with early sepsis.
The team's approach to the patient was as integrated as the team's approach to the complex wound. "All Hands On Deck!" (Figure ).
The cornerstone of our management was NPWT. Instillation therapy was initiated with NPWTi-d along with ROCF-CC in the operating room with normal saline with a 20-minute dwell time and continuous negative pressure at -125 mmHg (Figures -).
Complex foam application, bridging, and innovative strategies to keep a grossly contaminated wound from becoming the final straw to a patient's demise appeared our greatest challenge. Ostomy paste, rings, colloid, and barriers were utilized. Other items such as infant bottle nipples and condom catheters were also required. The team worked side by side to create dressing strategies to deliver NPWTi in the face of a high-output fistula to control contamination and allow primary healing. Despite the high output, the wounds improved (Figure ).
NPWTi was the cornerstone of our management strategy, wherein every type of foam, bridge, and securement was needed to gain success. As the patient's clinical status improved, he was transitioned from total parenteral nutrition (TPN) to an oral diet. However, the high-output fistula resulted in an increasing wound size that required continued NPWT which was transitioned from NPWTi-d to NPWTi-d to NPWT. (Figures -).
Once his clinical status improved, he was returned to the operating room for closure (Figures -).
Despite a successful closure, the challenge of fistula contamination continued. The initial closure was complicated by the inversion and disruption of the mucocutaneous sutures causing severe contamination to the distal incision. Revision required local tissue rearrangement and fasciocutaneous flaps to create a flatter, more appropriate topography of the stoma such that the fistula contents could be above the skin level.
Following this procedure, it was thought that incisional management could not be instituted due to fear of leakage under the dressing with secondary contamination. Unfortunately, two days after closure, the local flap dehisced and revision was required. During the operation, the local tissue rearrangement was redone, and the distal incision was managed with NPT as incisional management at a continuous negative pressure of -125 mmHg.
The high-output fistula continued with leakage and contamination, resulting in recurrent break down of the distal incision. NPWT was reinstituted to assist with fistula management. Due to the continued high output, it was elected to hold on any further attempt at surgical closure and depend solely on wound and fistula management. Fortunately, the patient's clinical progress continued to improve. The wound bed continued to improve with a healthy granulating tissue filling in the defect (Figure ).
NPWT was discontinued. He was transitioned from the acute to post-acute care setting with advanced wound dressings that could ultimately be managed at home (Figures -).
This patient's progress and apparent success were achieved only because of the commitment and experience of a caring group of providers that was led by their knowledge and experience of NPWT in the most challenging circumstances.
This case illustrates the multidisciplinary team approach toward a complex patient with a complex wound, with the team having worked endlessly to create new strategies using evidence-based wound therapies with negative pressure as the cornerstone of treatment.
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pmc-6338405-1
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A 69-year-old male presented with worsening cough and shortness of breath. His past medical history consisted of Parkinson's disease of two years duration refractory to medical treatment, a previous surgical splenectomy for an unknown indication, prior smoking history, and hypertension. He reported a significant decline in his health with a two to three-month history of a 40-pound weight loss and progressive dysphagia. At initial presentation, he was found to be hypoxemic and tachycardic. Computed tomography angiography (CTA) of the chest ruled out the possibility of a pulmonary embolism but revealed a conglomerate right hilar mass involving the carina and extending inferiorly into the subcarinal, right hilar, and paratracheal regions with encasement of the right mainstem bronchus, bronchus intermedius, and pulmonary artery with evidence of superimposed pneumonia. Also noted were retroesophageal and mediastinal lymphadenopathy with findings suspicious for hepatic and retrocaval metastasis (Figure ). A complete blood count showed a white blood cell count of 1.57 K/mcL, hemoglobin of 10.0 g/dL, hematocrit of 30.2%, and a platelet count of 119 K/mcL. He was started on broad-spectrum antibiotics and admitted for treatment of pneumonia and pulmonary evaluation.
Endobronchial ultrasound with biopsy of the level 4L, 7, and 11R lymph nodes was completed. The biopsy revealed tumor cells which were positive for S100 and HMB45 and negative for CK7, CK20, P63, TTF1, and napsin-A, consistent with the diagnosis of metastatic melanoma. His pancytopenia was evaluated with a bone marrow biopsy and aspirate. The marrow showed markedly decreased trilineage hematopoiesis, a hypercellularity of 70% with extensive infiltration by B-cell lymphoma positive for CD20, DBA.44, CD25, and Annexin A and negative for CD3, CD10, CD5 and cyclin d-1; the findings were consistent with HCL. In addition, there were microscopic foci of a non-hematopoietic malignancy positive for S-100 and HMB45 consistent with malignant melanoma. It was estimated that the HCL occupied approximately 90% of the marrow cells and the melanoma cells occupied less than 5%. Whole-body bone scintigraphy was negative for bony metastatic disease. Magnetic resonance imaging of the brain was negative for intracranial metastasis. A molecular evaluation was positive for the BRAF V600E mutation in both the HCL and the melanoma.
The patient was discharged from the hospital in improved and stable condition; however, he represented to the hospital 10 days after discharge due to acute hypoxic respiratory failure secondary to new onset pulmonary edema and moderate-sized bilateral pleural effusions. The patient's respiratory status was tenuous, and he required intermittent positive pressure ventilation. Given the rapid decline in the patient's status and worsening metastatic disease, we elected to initiate him on single-agent vemurafenib at a dose of 720 mg orally twice daily. The patient received a total two doses of vemurafenib but, unfortunately, succumbed to his illness before completion of his planned therapy course.
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pmc-6338408-1
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A 55-year-old female with no family history of breast cancer presented to breast clinic for evaluation of left breast lump that she noticed two years ago. Initially the lump was painless but recently became symptomatic. Examination revealed a large left breast mass measuring 14 cm x 12 cm involving the medial upper quadrant with overlying skin erythema (Figures , ).
Axillary lymph nodes were not palpable. Right breast exam was within normal limits. Ultrasound confirmed the physical exam findings. Core needle biopsy was performed which came back positive for invasive mucinous carcinoma.
The patient was started on neo-adjuvant chemotherapy. After multiple cycles of chemotherapy, the tumor did not show any regression. With no response to neo-adjuvant chemotherapy, decision was made to proceed with left modified radical mastectomy (Figures , ).
Surgical pathology showed resected margins to be free of tumor (Figure ). All the lymph nodes were negative of carcinoma. The tumor was ER/PR positive and HER2/neu negative and was staged T3N0M0. The patient did well after the surgery. She received adjuvant chemotherapy and started on aromatase inhibitor.
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pmc-6338410-1
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An 11-year-old Saudi Arabian girl presented to the clinic with a one-year history of bilateral hip pain and limping. The symptoms progressed over two weeks. Past medical history was negative for endocrinopathies, hemoglobinopathies, bone disorders, trauma or radiation therapy to the pelvis. She was delivered by spontaneous vaginal delivery at term with no neonatal intensive care unit (ICU) admission.
Laboratory tests were normal for serum insulin-like growth factor-1 (IGF-1), thyroid-stimulating hormone (TSH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), adrenocorticotropic hormone and prolactin.
On general physical examination, the patient looked tall and obese and ambulating with axillary crutches. The patient’s height and weight were at the 90th percentile according to the Centers for Disease Control and Prevention (CDC) growth charts.
On clinical examination, the patient showed a waddling gait and an external rotation on walking. Both hips displayed obligatory external rotation (+10 degrees) with limited hip flexion and internal rotation (-10 degrees). Furthermore, both hips exhibited limited abduction and extension (-10 degrees). Leg-length discrepancies were observed; the right leg was adducted, whereas the left leg was externally rotated. The patient was ambulating with the assistance of axillary crutches. The right leg was noted to be in a slightly worse condition than the left leg on the account that it revealed more external rotation while walking.
On anteroposterior (AP) X-ray view, the Klein’s line was normal bilaterally. A frog-leg lateral radiograph (X-ray) showed bilateral SCFE with valgus deformity (Figure ). The right and left femoral neck-shaft angles measured 154.3 and 148.2 degrees, respectively. A generalized osteopenia of the hip joints was observed. There was no avascular necrosis, dislocation or subluxation.
Preoperative computed tomography (CT) scan suggested a moderate bilateral posterior slippage of femoral heads; the right and left femoral head-neck angles measured 60 and 52 degrees, respectively (Figure ).
A final diagnosis of bilateral valgus SCFE was established. Consequently, the patient underwent bilateral percutaneous in-situ pinning with size 50-mm and length 6.5-mm single cannulated screws (Figure ). The screws were placed under fluoroscopy guidance. Screws placement was satisfactory with no sign of acetabular impingement in all fluoroscopic planes.
Postoperatively, the patient made an uneventful recovery. She was discharged on a wheelchair for mobilization and instructed to avoid weight-bearing activities for the first three months.
At one-year follow-up, hip radiograph showed bilateral atypical narrowing of the joint space and suspected chondrolysis. In addition, the physes of both proximal femoral heads were fused. CT report revealed left hip subchondral sclerosis with lateral osteophytes (Figure ). On the right side, the fixating screw was noted to be penetrating into the articular surface of the femoral head with some osteoarthritic changes. After a thorough discussion of the patient’s worsening situation, it was decided to perform a revisional surgery. The revisional surgery included the removal of bilateral screws, as well as administration of local steroids and analgesics for pain control. Post-revisional surgery at three months, though the patient was limping with a pelvic tilt, she was able to ambulate with the aid of axillary crutches.
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pmc-6339077-1
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A nine-year-old male had complained of palpitations, tremors, and paresthesia for approximately two months. No weight loss, polyphagy, or change in mood were reported. The clinical examination showed generalized leanness associated with dry skin, rhythmic, and concited cardiac activity, fine tremors of the hands, palpable and globose thyroid, bilateral exophthalmos, retained ocular motility, and mild bilateral conjunctival hyperaemia. A direct and consensual pupillary reflex was present. Vital signs showed no fever, a heart rate of 140 beats per minute, blood pressure of 100/65 mmHg and a body temperature of 36 °C. His weight was 24.5 kg (7th percentile, −1.45 SDS), his height was 141 cm (84th percentile, 1.01 SDS), and his body mass index (BMI) was 12.32 (0.0 percentile, −3.60 SDS), according to the Italian Society for Paediatric Endocrinology and Diabetes charts [].
At admission, electrocardiogram (ECG) showed sinus tachycardia (140 beats per minute), in the absence of other significant alterations. Thyroid function laboratory tests showed hyperthyroidism: Elevated free thyroxine (FT4) and free triiodothyronine (FT3) levels, at 2.75 ng/dL (normal value [n.v.]: 0.7–1.48), and 4.10 pg/mL (n.v.: 1.71–3.71), respectively; and suppressed and suppressed thyroid-stimulating hormone (TSH) levels, at 0.0001 µUI/mL (n.v.: 0.350–4.940). A thyroid ultrasound showed a significantly increased glandular size for age. The total volume (approximately 17.1 mL, with a right lobe of approximately 8.8 mL and a left lobe of approximately 8.3 mL) turned out to be quadrupled with respect to the age reference value: 3.1 mL +/− 1.05 mL; ultrasound also showed hypoechoic and diffusely inhomogeneous echo-structure and intensely increased vascularization of the gland.
Ophthalmologic evaluation confirmed the presence of exophthalmos and the absence of lagophthalmos or visual acuity deficiency, with normal ocular motility, slight congestion of the eyelids (non-inflammatory oedema), and modest bulbar conjunctival hyperaemia. No diplopia was observed. The exophthalmometry detected a value of 17.00 mm for the right eye and a value of 17.5 mm for the left eye. Clinical Activity Score (CAS) was 6 and NOSPECS was IVa. These findings, combined with clinical conditions and TSH receptor antibody positivity, led to a diagnosis of Graves’ disease. Anti-peroxidase and anti-tireoglobulin antibodies were also found to be positive. Therefore, methimazole was administered at the starting dose of 0.4 mg/kg/day in two administrations, confirming that blood count and liver function were in the normal range. During hospitalization, the clinical conditions of the young patient improved, and the patient was discharged.
After one month, when the patient returned to our clinic, weight increased from 24.4 kg to 26.5 kg, while the BMI remained under the 3rd percentile, with a value of 13.10. Blood count, liver function, albumin, and total protein, checked to assess possible adverse effects of the methimazole therapy, were normal. Thyroid function improved: FT3 was 7.32 pg/mL, FT4 was 1.65 ng/dL, and TSH was 0.005 µUI/mL. Clinical examination showed good clinical conditions and bilateral exophthalmos, greater on the right eye. CAS was 7 and NOSPECS was again IVa. The heart rate was 88 beats per minute. During the follow-up visits, at two and three months after discharge, blood count and liver function were also normal, thyroid function improved, and thyroid volume decreased; thus, the therapy was reduced to 0.27 mg/kg/day.
After four months, thyroid function clearly improved: FT3 of 3.53 pg/mL, FT4 of 1.17 ng/dL, and TSH of 0.007 µUI/mL. Blood count and liver function were in the normal range, but the eye examination showed worsening of the ophthalmopathy, with the following signs of activity: Increase in the exophthalmos of the right eye with palpebral retraction, soft tissue involvement (succulent eyelids with associated oedema, caruncular and conjunctival hyperaemia, and oedema) and keratopathy resulting from exposure. CAS was 9 and NOSPECS Va. On the basis of the ocular findings, steroid therapy was initiated by oral administration of prednisone (1 mg/kg/day) for four weeks, and then gradually tapered. Thyroid function improved again; five months after discharge, thyroid hormones remained in the normal range: FT3 was 2.450 pg/mL, FT4 was 0.97 ng/dL, and TSH increased to 0.127 µUI/mL. A clinical examination showed a reduced thyroid volume, which was confirmed by the thyroid ultrasound that showed dimensions of 13 mL (17.1 mL at previous control) and reduced echogenicity, with non-homogeneous eco-structure, and increased vascularization of the left lobe. Therefore, therapy with methimazole was further reduced to 0.18 mg/kg/day. Thyroid function was normal, with an FT3 value of 3.59 pg/mL (n.v.: 2–4.4), and an FT4 value of 1.49 ng/dL (n.v.: 0.90–1.70), although TSH was slightly reduced with a value of 0.182 µUI/mL (n.v.: 0.270–4.200). Blood count and liver function remained normal, so therapy with methimazole was confirmed. At the last clinical follow-up, after eight months, thyroid function remained good, the exophthalmos was reduced and the patient did not have tremors. Weight increased from the first visit at admission, from 24.4 kg (3–10th percentile) to 30 kg (23rd percentile, −0.73 SDS), with a BMI of 14.37 (3rd percentile, −1.84 SDS) []. Furthermore, puberty started in our patient. Regarding the Graves’ ophthalmopathy trend, it has been in progressive improvement after beginning prednisone therapy. After one week of therapy, the eye assessment showed reduced retraction of the upper eyelid of the right eye, improvement of the right eye exophthalmometry and reduction of conjunctival hyperaemia. CAS was 4 and NOSPECS IIIb. After four weeks of therapy, the eye assessment showed reduction of the right palpebral retraction, without conjunctival hyperaemia, and no other signs of inflammation of the anterior segment were observed. CAS was 3 and NOSPECS IIb. After twelve weeks, the eye assessment showed a notable decrease of the right palpebral retraction and absence of keratitis and conjunctival hyperaemia. CAS was 2 and NOSPECS IVa.
shows the clinical and laboratory parameters in our patient, at admission, and during the follow-up. Management of the case was approved by the Ethics Committee of Santa Maria della Misericordia Hospital, Perugia, Italy (2018-PED-06). The patient’s parents provided their written informed consent and the child his written assent for the management and the publication of the case report.
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pmc-6339277-1
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On February 22, 2014, a 24-month-old girl referred from Dracena’s municipal hospital (Fig. , number 1) was admitted to RH and her parents related that she had had a fever for 10 days. In the previous 3 days, her health had worsened significantly with adynamia, pallor, inappetence, oliguria, and choluria. On systematic examination, she was lethargic, her skin was discolored (4+/4+), and hypoactive. A radiographic image on admission suggested pneumonia. Complete blood count showed marked anemia, thrombocytopenia, and a significant increase in hepatic enzymes (Table , column 1). Abdominal ultrasonography showed pronounced hepatosplenomegaly. Supported by her health status, laboratory and image examinations, and the fact that she lived in an endemic region, VL was suspected. The laboratory diagnostics (Table , column 1) recommended mainly by the Manual of Surveillance and Control of Visceral Leishmaniasis of São Paulo state [–] included direct parasitology consisting of the presence of amastigotes of Leishmania in bone marrow aspirate stained by Giemsa stain; a serological titer ≥1:80 in an indirect fluorescent antibody test (IFAT; Bio-Manguinhos/FIOCRUZ, Rio de Janeiro, Brazil); and in 2010, the rK39 rapid diagnostic test (Kalazar Detect, InBios, Seattle, Washington, USA) was implemented. She was sent to the pediatric intensive care unit (ICU) from the emergency department and treated with liposomal amphotericin B (5 mg/kg/day) for 5 days. Serology screening showed that she was positive for cytomegalovirus (CMV) antibodies IgG and IgM. At the end of VL treatment, she had severe liver injury, presenting hyperbilirubinemia, hypoalbuminemia, and increased liver and canalicular enzymes: alanine transaminase (ALT) 354 IU/mL; aspartate transaminase (AST) 401 IU/mL; alkaline phosphatase 993 mg/dL; γ-glutamyl transferase 1048 mg/dL; total bilirubin 5.77 mg/dL, leading to fecal acholia, jaundice, and hypoalbuminemia (2.7 g/dL). Because there was an outbreak of dengue fever in her home region, dengue was suspected and IgM serology was positive in two different samples. She remained in the pediatric ICU for 12 days and was discharged after 24 days. At discharge, the case was diagnosed as VL-CMV-dengue virus co-infection and liver injury, and she was followed for 1 year as an ambulatory patient with pediatric infectious diseases. In March, 2017, she was hospitalized with severe respiratory distress and renal failure, remaining in the pediatric ICU; she died 2 days later with a diagnosis of Brazilian spotted fever transmitted by ticks for which the causative agent is Rickettsia rickettsii.
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pmc-6339277-2
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On May 28, 2009, a 13-month-old boy residing in Tupi Paulista municipality (Fig. , number 2) was admitted with fever, inappetence, and splenomegaly. On systematic examination, he was pale and febrile with a distended abdomen and hepatosplenomegaly. Because he lives in an endemic area, VL was suspected and bone marrow aspirate examinations were conducted according to the laboratory diagnostics recommended by the Manual of Surveillance and Control of Visceral Leishmaniasis of São Paulo state [] (Table , column 2). At diagnosis, his laboratory results were as follows: total protein 6.8 g/dL, albumin 3.6 g/dL, globulin 3.2 g/dL, and A:G ratio of 1.1 with a 2-fold increase and 12-fold increase in IgG and IgE immunoglobulin levels, respectively. Serum protein electrophoresis revealed polyclonal hypergammaglobulinemia: total protein 7.3 g/dL, albumin 3.95 g/dL, alpha1-globulin 0.41 g/dL, alpha2-globulin 0.76 g/dL, beta1-globulin 0.43 g/dL, beta2-globulin 0.23 g/dL, gamma-globulin 1.53 g/dL (20.9%; reference 10.6%–18.8%). He was treated with liposomal amphotericin B (5 mg/kg/day) for 5 days with improvement in the symptoms and 50% reduction of splenomegaly. CMV IgG and IgM antibodies were detected in the serology screening. After 8 days, he was discharged with a diagnosis of VL-CMV co-infection. However, the patient had a relapse several times at 59 days, 79 days, and 156 days after discharge. On each recurrence, he was admitted to the pediatric ward and underwent the standard treatment for 5 days. After the last infection, he was treated with an HIV-positive immunosuppressed regimen (liposomal amphotericin B, 5 mg/kg/day, 1 day per month for 6 months). A primary immunodeficiency was investigated and immunophenotyping and lymphocyte proliferation were at normal levels (Table , column 1). At discharge, he was diagnosed as VL-CMV co-infection and treated with an immunosuppressed regimen. After treatment, immunoglobulin and serum protein electrophoresis showed normal levels. After this protocol, he did not relapse and was followed for 1 year as an ambulatory patient with pediatric infectious diseases.
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pmc-6339277-3
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On November 13, 2014, a 14-month-old girl residing in Ouro Verde municipality (Fig. , number 3) was referred from Dracena’s municipal hospital; her parents related that she had been vomiting and had had a fever for 9 days. VL was suspected and bone marrow aspirates, IFAT and rK39 were conducted according to the laboratory diagnostics recommended by the Manual of Surveillance and Control of Visceral Leishmaniasis of São Paulo state [] (Table , column 3). On systematic examination, her health status was regular, but she was pale (1+/4+), with a distended abdomen and hepatosplenomegaly (Table , column 3). She was treated with liposomal amphotericin B (5 mg/kg/day) for 5 days and was found to have severe anemia. Red blood cells (15 mL/kg/day) were transfused twice, and the patient was discharged 15 days later with a diagnosis of VL. However, the patient had a relapse several times at 98 days, 131 days, 156 days, and 171 days, with the same symptoms at different time intervals. On each recurrence, she was admitted to the pediatric ward and underwent the standard treatment for 5 days. After the last hospitalization (at 171 days), she was treated with an HIV-positive immunosuppressed regimen (liposomal amphotericin B, 5 mg/kg/day, 1 day per month for 6 months). A primary immunodeficiency was investigated and immunophenotyping showed normal levels, however a decrease in lymphoproliferation against mitogens and CMV antigen was found (Table , column 2). In the course of the relapse treatment, she had multiple upper airway infections (community-acquired pneumonia, tonsillitis, and sinusitis). Specific antibody responses to pneumococcal polysaccharide vaccine (representing a T cell- independent response) and tetanus, diphtheria, and hepatitis B virus after vaccination (representing a T cell-dependent response) were investigated. The concentration of antibodies was below protective levels after vaccination. Furthermore, the patient showed a poor polysaccharide antibody response to a 23-valent pneumococcal vaccine. After completing the immunosuppressed regimen, she did not relapse, and she is being followed as an ambulatory patient with pediatric infectious diseases and immunodeficiencies.
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pmc-6339277-4
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On November 23, 2010, a 8-month-old boy referred from Dracena’s municipal hospital (Fig. , number 4) was admitted to RH with fever, cough, and vomiting for the previous 5 days. On systematic examination, he was pale, febrile, dehydrated with tachydyspnea, distended abdomen, and hepatosplenomegaly. He was sent to the pediatric ICU and treated for community-acquired pneumonia. Because he lives in an endemic area, VL was suspected and bone marrow aspirate examinations were conducted according to the laboratory diagnostics recommended by the Manual of Surveillance and Control of Visceral Leishmaniasis of São Paulo state []. (Table , column 4). He was treated with liposomal amphotericin B (5 mg/kg/day) for 5 days. Immunoglobulin levels were determined, resulting in pan-hypogammaglobulinemia. Immunophenotyping and lymphocyte proliferation were investigated, and he was diagnosed as X-linked agammaglobulinemia (XLA). Patients with XLA have absent or reduced number of peripheral B cells and a profound deficiency in all immunoglobulin isotypes (Table , column 3). He was discharged after 20 days, and he is being followed as an ambulatory patient with immunodeficiencies with human IgG immunoglobulin (400 mg/kg) replacement at intervals of 28 days.
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pmc-6339277-5
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In 2011, a 11-year-old girl, residing in Paulicéia municipality (Fig. , number 5), was admitted to RH (personal data []). She was AIDS-C3 with low levels of CD4, high viral load, severe diarrhea, oral and perineal candidiasis, severe thrombocytopenia, and protein-caloric malnourishment. She had sepsis and renal and cardiac failure. She was sent to the pediatric ICU, and because she lives in an endemic region, VL was suspected. Bone marrow aspirate examinations according to the laboratory tests recommended by the Manual of Surveillance and Control of Visceral Leishmaniasis of São Paulo state were conducted [] (Table , column 5). Her symptoms improved significantly after administration of liposomal amphotericin B. However, on the 47th day of hospitalization, she had a relapse with thrombocytopenia and retreatment with liposomal amphotericin B and intravenous human IgG immunoglobulin was given. She was discharged after 71 days, diagnosed as VL-HIV/AIDS co-infection. The patient was lost to follow-up.
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pmc-6339326-1
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A 23-month-old girl was admitted to our hospital because of a history of jaundice for more than one year. The patient was born at 30 weeks of gestation, with particular facial features including double pointed ears, slightly protruding jaw and hollow-eyed. Elevated levels of total serum bilirubin (TB), direct bilirubin (DB), and total bile acid (TBA) of the subject were observed since the age of 6 months (Table ). The patient had low weight of 9.8 kg (P12) and height of 76 cm (P0) when hospitalized. Mild jaundice of the skin, moderate jaundice of the sclera, and pruritus were observed. Physical examination found a liver palpable 4.5 cm below the right costal margin. Spleen was 2 cm below the left costal margin. No signs were found that the lungs and heart are affected. Her hepatobiliary radionuclide imaging showed biliary obstruction and ultrasound indicated hepatomegaly, and magnetic resonance cholangiopancreatography (MRCP) was normal. The chest x-ray showed a normal thoracic spine, and there was no abnormality in cardiac ultrasound. The liver biochemical profile at age of 23 months revealed elevated ALT 147 U/L (5–40), AST 112 U/L (8–40), TB 70.08 μmol/L (3.40–17.10), DB 35.00 μmol/L (0–6.8), and TBA 203 μmol/L (0–10) (Table ). Slightly low levels of vitamins were detected (Table ). Laboratory tests showed a normal blood test, normal immunoglobulin G (IgG), IgA, IgM, and IgE levels. Lymphocyte subsets analysis was normal. Blood coagulation function, trace elements, Alpha fetal protein (AFP), blood tandem mass spectrometry and urine reducing substances were normal. Alpha-1-antitrypsin phenotype, serum amino acids, pathogens of Epstein Barr virus (EBV), TORCH, hepatitis A, B, C, E were all negative (data not shown). The patient was diagnosed as PFIC by manifestations of fluctuating jaundice, persistent cholestasis, pruritus and growth retardation. After admission, the patient was treated with oral ursodeoxycholic acid (25 mg/kg per day), compound glycyrrhizin tablet (2.5 mg/kg per day) and fat-soluble vitamins (vitamin k, 1 mg/kg, 3 times per day; vitamins AD, 1500 U per day; vitamin E, 10 mg/kg per day) for 2 weeks. The jaundice and pruritus were alleviated and liver function indexes were reduced, however, the level of TBA was still highly elevated (Table ).
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pmc-6339345-1
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Eighteen-year old girl presented to us with sore throat, malaise, fatigue and fever for 10 days. She was apparently well 10 days back where she initially developed a sore throat followed by fever with chills and a non-productive cough. She did not have any abdominal pain, acrocynosis or exertional dyspnea. She did not have any contact history of similar illness.
On examination she was well looking. She was pale but not icteric. Oral examination revealed inflamed tonsils. She had tender, discrete, mobile bilateral anterior and posterior cervical lymph nodes with bilateral inguinal lymphadenopathy. On admission she had fever (39.2 °C) with no evidence of dehydration. She did not have any evidence of peripheral gangrene or acrocynosis She was found to have tachycardia (110 beats/min) with normal blood pressure. Her cardiovascular and respiratory system examinations were unremarkable. Her abdominal examination revealed mild, non-tender splenomegaly with no hepatomegaly.
On admission laboratory testing was remarkable for macrocytic moderate anemia with a hemoglobin of 8.6 g/dl (normal 11-16 g/dl), mean corpuscular volume 96.3 fl (normal 80-96 fl), mean corpuscular hemoglobin 37.7 pg (normal 27-34 pg), red blood cell mass 2.28 × 106/ul (normal 3.5–5.5 × 106/ul), white blood cell count 8.27 × 103/ul (normal 4–11 × 103), neutrophils 48.4% and lymphocytes 45.9%. Her blood pictures revealed macrocytes, spherocytes, few polychromatics and lymphocytosis with atypical lymphocytes. Her direct anti globulin test (DAT) was positive and DAT profile revealed positive for C3d and negative for IgG. Her monospot test was positive and Epstein Barr virus (IgM) antibody was positive as well (EBV- viral capsid antigen (VCA)- IgM using ELISA method was positive but IgG was negative). Her biochemical tests revealed serum ferritin > 1650 ng/ml (6.9–282.5 ng/ml), serum iron 12.6 μmol/l (normal 5-33 μmol/l), total iron binding capacity (TIBC) 50.1 (normal 52.0–101.0), transferrin saturation 25.15%, serum lactate dehydrogenase (LDH) 1673u/l (normal 200-400u/l), serum heptoglobulin < 9 mg/dl (normal 30–200 mg/dl), Aspartate transaminase (AST) 124.5u/l (normal 0-31u/l), Alanine transferase (ALT) 46.7u/l (normal 7-35u/l), total bilirubin 1.3 mg/dl(normal 0.3–1.20) with an increased indirect fraction, alkaline phosphatase 77.4u/l (normal 30- 120u/l), serum creatinine 41.1 μmol/l (normal 0-97 μmol/l), C reactive protein 24 mg/l (normal < 6.0 mg/l), erythrocyte sediment rate 60 mm/hour (normal 0-10 mm/hour). Her anti-nuclear antibodies and rheumatoid factor was negative. Her ultrasound scan abdomen showed mild splenomegaly (11.3 cm × 6.0 cm) and transthoracic echocardiogram was normal.
She was given analgesics and advised to bed rest and avoid cold exposure and started on folic acid 5 mg daily. Since she was clinically not symptomatic for anemia, blood transfusion was not done. After 3 weeks her hemoglobin rose up to 10 g/dl and serum ferritin level reduced to 925 ng/ml and after six weeks follow up there was no lymphadenopathy on examination, her hemoglobin rose up to 11.5 g/dl, serum ferritin level normalized to 250 ng/ml and the repeat (VCA) – IgM was negative but (VCA)-IgG became positive.
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pmc-6339357-1
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A 41-year-old white woman, gravida 3, para 0, was admitted to our clinic at 27 weeks and 3 days of gestation. She reported suffering from dizziness, impaired vision, facial edema as well as increasing edema in her lower legs since the previous day. She also mentioned raised blood pressure (approximately 175/105 mmHg) although regularly taking her medication of alpha-methyl-dopa 250 mg 1-2-1. We initiated this therapy 3 weeks earlier due to the development of gestational hypertension. Furthermore, she took magnesium 40 mg 1-1-1 and progesterone 100 mg 2-0-2 since the onset of pregnancy as supportive medication. She had no other additional medication. She had no history of pre-existing diseases. Pregnancy-associated complications never occurred in her family.
Obstetric history: At the age of 38, after 3 years of trying to get pregnant, she decided on assisted reproductive technologies. She had three inseminations, followed by five ICSIs without success. The sixth ICSI finally led to pregnancy, although ending with an early abortion at 6 weeks of gestation. After the seventh ICSI two embryos were transferred. In addition, LMWH was prescribed for the first 14 days after transfer. In the following ultrasound examinations only one viable embryo could be detected. However, this pregnancy ended at 7 weeks of gestation. After the second miscarriage our patient and her husband ran through genetic counselling and testing, revealing no pathologies. Furthermore, antiphospholipid syndrome (APS), lupus erythematosus, and thrombophilia were excluded. In search of other possible reasons explaining the dissatisfying clinical course, our patient once more had an ultrasound of the genital organs now revealing a tumor at the posterior wall of her uterus, most probably representing a fibroma. The following hysteroscopy showed an arcuate uterus without the need to interfere surgically.
Then, our patient, now 41-years old, went for another ICSI with the transfer of two embryos. Initially, follow-up ultrasounds showed two amniotic cavities with viable embryos. At 8 weeks of gestation one embryo died and could no longer be detected in the subsequent ultrasound examinations (“vanishing twin”). Again, LMWH (nadroparin 0.4 ml/day subcutaneous injection) was prescribed for the first 14 days after transfer. Based on literature research and out of fear of another miscarriage our patient decided to continue the treatment with nadroparin. Although discussing this topic with her gynecologist, she could not receive the prescription as the gynecologist expressed a lack of experience in preventive anticoagulant treatment after ICSI. Our patient therefore turned to her general practitioner who issued the prescription for nadroparin. With 12 weeks and 2 days of gestation she autonomously discontinued the treatment with nadroparin and changed to aspirin 100 mg/day instead as preeclampsia prophylaxis. At 21 weeks and 2 days of gestation a prenatal care ultrasound revealed bilateral uterine artery notching. Three weeks later she developed hypertensive blood pressure values leading to hospitalization in our clinic. We initiated an antihypertensive therapy with alpha-methyl-dopa 250 mg as described above. The medication with aspirin was discontinued. To estimate further clinical course, preeclampsia-associated angiogenesis biomarkers were analyzed: The soluble fms-like tyrosine kinase-1 (sFlt-1), an antiangiogenic factor, and the placental growth factor (PlGF), an angiogenic factor. Although the cause of preeclampsia is not yet fully understood, angiogenic imbalance in favor of antiangiogenic factors like sFlt-1 is involved in the pathophysiology of preeclampsia resulting in abnormal remodeling of maternal spiral arteries which finally leads to placental malperfusion [, ]. The sFlt-1/PIGF ratio already increases before the onset of the clinical symptoms and is therefore used as a predictor for preeclampsia with high sensitive and specific values [–]. Her sFlt-1/PIGF ratio of 276 (physiological sFlt/PIGF ratio < 33) indicated a high risk of developing preeclampsia in the next 4 weeks. We therefore initiated a glucocorticoid prophylaxis with betamethasone for respiratory distress syndrome in case of preterm delivery. After adjusting her blood pressure to 150/80–100 mmHg our patient was discharged after 7 days.
Finally, at 27 weeks and 3 days of gestation, she again was admitted to our clinic, now with the symptoms described above leading to the diagnosis of preeclampsia. Cardiotocography (CTG) results and obstetric ultrasound were normal apart from an elevated pulsatility index of 1.2 of the umbilical artery Doppler. Bilateral uterine artery notching could still be detected. Our patient’s blood work did not show any abnormalities apart from recently elevated lactate dehydrogenase (LDH) values (see Additional file : Table S1). Blood samples were now taken in a close-meshed timescale: within 16 hours transaminases and hemolysis parameters were rapidly increasing and thrombocyte counts were decreasing, thus fulfilling the criteria of a fast progressing HELLP syndrome (see Additional file : Table S1).
An urgent C-section was performed based on maternal indication due to the deteriorating clinical condition of our patient: constantly raised blood pressure > 185/105 mmHg despite additional treatment with nifedipine; growing pain in her upper abdomen; oliguria with increasing leg, arm, and facial edema; beginning somnolence and apathy. At 27 weeks and 4 days of gestation a girl was delivered, weighing 873 g, with Apgar scores of 8/10/10, umbilical cord pH = 7.35. The girl was immediately attended by the department of pediatrics. The uterus in situ appeared to show signs of diffuse myohyperplasia. In addition, several smaller pedunculated uterine fibroids were apparent. Histopathology of the placenta revealed premature ripened chorionic villi and an older circumscribed infarction.
After the C-section our patient was transferred to the intensive care unit (ICU). Postoperative sonography revealed small pleural effusions in both lungs. Diuretic therapy with furosemide rapidly increased urinary excretion. Additional antihypertensive medication with urapidil via syringe pump infusion could be reduced gradually and terminated after 2 days. Perception disorders such as illusory conjunctions in the perception of objects rapidly disappeared. After 2 days she could be transferred to our general ward. She recovered quickly, her blood work normalized. Her blood pressure was adjusted to 140–159/90–99 mmHg with alpha-methyl-dopa 250 mg 1-0-1. Eight days after the C-section she was able to leave our hospital. We recommended follow-up blood samples and regular blood pressure measurements for the next 6 weeks. Antihypertensive medication should be adjusted if applicable. Furthermore, we suggested 24-hour blood pressure measurements on an annual basis due to the higher prevalence of cardiovascular diseases after preeclampsia [, ].
Apart from a pneumothorax in combination with respiratory distress syndrome within the first days the child did not suffer from any severe complications during her hospital stay. With a weight of 2680 g the healthy girl was finally discharged after 77 days.
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pmc-6339384-1
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An 80-year-old man was admitted to our hospital due to the presence of a liver mass in segment 5 (S5). He had undergone right hemicolectomy for colon cancer 12 years prior; his condition was pathologically diagnosed as well-to-moderately differentiated adenocarcinoma with lymph node metastasis and venous invasion. A total of 22 lymph nodes were resected during the initial surgery. Among these, six lymph nodes were positive for metastasis. The tumor was classified as stage IIIb. After right hemicolectomy, he was administered adjuvant chemotherapy of 5-fluorouracil for 1 month, but the treatment was discontinued because of adverse drug events. During the 12 years of follow up, there was no local recurrence. After the 5-years follow-up period, this patient was followed-up by his primary care physician. Tumor markers were examined occasionally by his primary care physician, and computed tomography (CT) was performed because of the increase in the tumor marker levels. The liver mass was detected on CT. Then, the patient was referred to our hospital. Upon admission, his carcinoembryonic antigen (CEA) and carbohydrate antigen (CA) 19–9 levels were elevated to 21.4 ng/ml and 174.5 U/ml, respectively. However, α-fetoprotein (AFP) and protein induced by vitamin K absence-2 (PIVKA-2) levels were normal. Hepatitis B surface antigen and hepatitis C antibody titers were both negative.
On enhanced CT, periductal enhancement was observed along the dilated bile ducts in the portal and venous phase (Fig. a, arrowhead); however, the accompanied mass, which causes peripheral biliary duct dilation, was not detected. The peripheral branch of the continuous expanded bile duct (Fig. b, red circle) exhibited a mass-like appearance (S5) that contained a spotty high-density area that was observed even when using plane phase CT (Fig. c, arrow).
There was hypo-intensity on T1 weighted image (Fig. a) around the dilated bile duct. On T2 weighted imaging, modestly high intensity was observed along the dilated bile ducts (Fig. b, arrow), with a high-intensity area that included low-intensity in the S5 (Fig. b, arrow head) being observed. The dilated bile ducts showed a high intensity on diffusion weighted images (DWI) (Fig. c). An apparent diffusion coefficient (ADC) map displayed slightly high-intensity visually (Fig. d). Magnetic resonance cholangiopancreatography (MRCP) showed stenosis of the anterior-inferior branch of the bile ducts (Fig. e, red circle) and the peripheral bile ducts were dilated.
Fludeoxyglucose F18 (18F-FDG) PET imaging revealed abnormal uptake in the liver that was consistent with the site of bile duct dilatation, as observed in CT/MRI findings (Fig. ).
Ultrasonography (US) showed dilated bile ducts and a low echoic lesion 15 mm in diameter with no posterior echo enhancement in S5 (Fig. a). On CEUS, the low echoic lesion showed no enhancement in the vascular phase and remained low, even in the Kupffer phase (Fig. b, c).
ERC confirmed interruption of the anterior-inferior branch of the bile duct (Fig. ). We performed cytologic examination of the bile juice, but it was negative for malignant cells. Furthermore, intraductal biopsy was performed. The tissue obtained from anterior branch of the bile duct was adequate for histological diagnosis; however, the biopsy revealed no malignancy.
We did not performed percutaneous biopsy because of the risk of dissenmination of tumor cells intraperitoneally. Preoperatively, we clinically diagnosed an intraductal growth type of intrahepatic cholangiocarcinoma. Therefore, after informed consent was obtained, anterior segmentectomy was performed.
In the resected specimen, the anterior segment bile duct wall was continuously thickened, and a part of the bile duct formed a yellowish-white solid nodule that was 19 × 15 mm in diameter (Fig. a, b).
Histological examination revealed that the bile duct was filled with a large amount of mucin. The inside of the tumor-like part was full of necrotic tissue (Fig. a). The tumor cells extended along the basement membrane and replaced the normal epithelium of the bile duct (Fig. b). Meanwhile, the tumor cells formed papillae with fibrovascular cores inside the dilated bile duct, which were comprised of columnar mucin-producing cells (Fig. c). There was no tumor invasion into the liver parenchyma. The liver tumor resembled colon cancer that was resected 12 years prior. Even with primary colon cancer, tumor cells formed papillae with mucinous production as well as bile duct lesions. Therefore, immunohistochemical studies of cytokeratin (CK) 7, CK20, and Caudal-type homeobox transcription factor 2 (CDX2) were performed to distinguish between cholangiocarcinoma and metastatic liver cancer.
Immunohistochemically, the tumor cells of the liver were positive for CK 20 and CDX-2, but negative for CK7 (Fig. a-c). Meanwhile, the primary colon cancer was also positive for CK20 and CDX-2, but negative for CK7 (Fig. a-d). Furthermore both tumors exhibited the same V-Ki-ras2 kirsten rat sarcoma viral oncogene homolog (KRAS) mutation in G12D. As a result, the liver tumors were diagnosed as intraductal papillary growth type that formed due to liver metastasis from colorectal cancer.
The postsurgical course was favorable, and the patient was discharged from the hospital 19 days after surgery. At 2 years after surgery, there were no signs of recurrence.
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pmc-6339402-1
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After sustaining a motorcycle accident in July 2016, a 41-year-old man was initially treated with open reduction and internal fixation with a locking plate and single compression screw (LCP plate®, DePuy Synthes GmbH, Zuchwil, Switzerland) together with a split-thickness skin graft in Bulgaria (Fig. ). The fracture pattern showed a proximal tibial fracture (AO/OTA type 41-A2, Anderson Gustilo IIIb, Tscherne/Oestern type III open fracture) and a proximal fibula fracture with consecutive sensomotoric lesion of the peroneal nerve [–]. After admission to our hospital in September 2016, initial diagnostics including plain radiographs and a pan CT/MRI scan revealed an onset of septic pseudarthrosis in the proximal tibia, intramedullary osteomyelitis, a large abscess zone with contrast agent capturing 30 cm in the dorsal compartment and necrotic avascular muscle areas, a loss of the anterior tibial artery as well as a large anterolateral soft tissue defect covered with necrotic split-thickness graft that was transplanted onto bone and osteosynthesis material at the primary hospital in Bulgaria (Figs. , ). Mobilization was painful due to the clinically unstable osseous situation and reduced accordingly. Laboratory chemical infection parameters were slightly increased (CRP 2.7 mg/dl norm value < 0.5; leukocytes 6.9 G/l norm value 3.90–9.80). Local wound smears showed Acinetobacter baumannii (Carbapenem resistant) as well as Enterobacter cloacae complex (overexpression of AmpC-Betalactamase and fluoroquinolone resistant) in the large anterolateral defect zone and intramedullary in the proximal tibia to the distal third of the tibial shaft. For the complete clinical course, see the timeline (Fig. ).
Initial surgical management included removal of the osteosynthesis material and necrotic split-thickness graft together with aggressive extensive osseous debridement, resection of necrotic muscles of the anterior lower leg compartment and negative pressure wound therapy. Radical intramedullary debridement was performed using an intramedullary reaming device (SynReam/RIA® DePuy Synthes GmbH, Zuchwil, Switzerland). After two local debridements, Colistin hand-modelled chains and sticks [24 Mio. IE Colistin (Colistin methanesulphonate sodium), InfectoPharm, Heppenheim, Germany + 40 g Palacos R + G®, Heraeus Medical, Wehrheim, Germany] were topically inserted intramedullary as well as into the muscle compartments to establish a local high dose of antibiotics. The intramedullary sticks were formed using a thorax drain as a matrix (Argyle™ Trocar Catheter, 24 Ch, Covidien, Dublin, Ireland) and filled with antibiotic-impregnated cement with a cement applicator gun while the chains were made using hand-modelled pads onto an artificial tape (Mersilene tape, Ethicon Endo-Surgery Inc., Somerville, NJ, USA) (Fig. ). After eight osseous and soft tissue debridements, revision and changing of the local antibiotic spacers and parenteral antibiotic therapy, the wound smears were negative for bacterial growth of Acinetobacter baumannii and Enterobacter cloacae complex. Two months after initial trauma, an external fixator (AO Fixateur, DePuy Synthes GmbH, Zuchwil, Switzerland) was mounted to protect the planned soft tissue coverage (Fig. ). The soft tissue defect zone was covered with a full-thickness ipsilateral latissimus dorsi muscle flap and split-thickness grafts by the department of plastic surgery (Fig. ). The axial anterior external fixator was replaced with a hexapod external fixator together with a foot plate (Taylor Spatial Frame®, Smith & Nephew GmbH, Hamburg, Germany) to sequentially address the malalignment of the proximal tibia as well as to perform a gradual correction of the fixed drop foot. No further surgical interventions such as dorsal release or arthrotomy of the ankle joint were performed to reduce the risk for dissemination of the infection. From November 2016 to January 2017, the hexapod fixator was adjusted by the patient with a defined scheme after computed planning for the sequential correction (Fig. ). Following the completion of treatment (12 months after trauma), the patient showed good functional recovery without neurological or vascular symptoms except the persisting sensomotoric peroneal lesion and is returning to his previous occupation and to low-risk sports activities. ROM was extension/flexion: 0°/0°/120°; VAS was 1 of 10. Plain radiographs showed complete osseous consolidation at final follow-up (Fig. ).
Initial local wound smears showed Acinetobacter baumannii (Carbapenem resistant) as well as Enterobacter cloacae complex. Enterobacter cloacae complex was resistant to Ampicillin, Amoxicillin, Piperacillin+/−Tazobactam, Tigecycline, Cefuroxime, Cefotaxime, Ceftriaxone, Gentamycin, Tobramycin, Ciprofloxacin and Moxifloxacin. Acinetobacter baumannii was resistant to Fosfomycin, Ampicillin, Amoxicillin, Amoxi-Clavulanate, Ampicillin/Sulbactam, Piperacillin+/−Tazobactam, Tigecycline, Cefuroxime, Cefotaxime, Ceftriaxone, Cefepime, Ceftazidime, Meropenem (MHK > 32), Gentamycin, Tobramycin, Amikacin, Co-trimoxazole, Ciprofloxacin and Moxifloxacin but sensitive to Colistin. Topical application of antibiotics was performed using Colistin cement (24 Mio. IE Colistin (Colistin methanesulphonate sodium, InfectoPharm, Heppenheim, Germany) + 40 g Palacos R + G®, Heraeus Medical, Wehrheim, Germany). Systemic parenteral antibiotic treatment was performed using Colistin (1.10.2016 to 30.11.2016; 9 Mio I.E. loading dose followed by 4,5 Mio IE i.v. two times a day), Sulbactam (15.10.2016 to 30.11.2016; 3 g i.v. four times a day) and Fosfomycin (7.10.2016 to 30.11.2016; 5 g i.v. three times a day). After the detection of Corynebacterium jeikeium but eradication of Acinetobacter baumannii and Enterobacter cloacae complex, Vancomycin was added to the systemic antibiotic therapy with a trough level set at 15 mg/l from 4.11.2016 to 30.11.2016. Systemic levels of Vancomycin reached therapeutic levels. The patient suffered no neuro-, oto- or nephrotoxic side effects in the whole follow-up period controlled by neurologic assessment and laboratory chemical kidney retention parameters. Plasma levels of Colistin were not measured.
The large defect located at the anterolateral portion of the left lower leg with a size of approximately 50 × 12 cm and exposed tibial fracture zone required a large microvascular free flap to cover the defect and to support the previously infected wound with a well-vascularized, immunocompetent tissue. Preoperative CT angiography excluded the anterior tibial artery as recipient vessel so that end-to-side anastomoses to the popliteal vessels were planned. Due to the defect size and required pedicle length, the ipsilateral latissimus dorsi muscle was chosen for defect coverage. Time point of surgery was when wound smears were negative and local macroscopic condition showed vital granulation. It was harvested as a musculocutaneous flap with a monitor skin island to allow easy postoperative monitoring of the flap’s perfusion. Intraoperatively, the lateral sural artery, the nutrifying vessel of the lateral gastrocnemius muscle, was found to have a small-enough calibre difference to the thoracodorsal vessels of the latissimus flap’s pedicle to allow end-to-end anastomoses. Anastomoses of the artery and accompanying vein were performed with 9-0 Ethilon single knot sutures with help of a microscope (OPMI Pentero 900®, Carl Zeiss AG, Oberkochen, Germany) under 10× magnification. Intravenous injection of indocyanine green (ICG) and fluorescence microscopy showed patency of anastomoses and assured perfusion of the flap. Size of the flap and pedicle length allowed sufficient coverage of the exposed tibia. The flap and the adjacent exposed muscles were covered with 0.3-mm-thick, 1:1.5 meshed split skin grafts harvested from the contralateral thigh. Neither intra- nor postoperative complications occurred. After 1 week, the monitor island was resected, replaced by a skin graft and the mobilization of the patient started.
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pmc-6339407-1
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A 65-year-old non-smoking and non-drinking woman had split-graft deceased-donor LT for end-stage primary biliary cirrhosis (PBC) (Tables & ). No pre-LT induction immunosuppressant was given. Her post-LT immunosuppressants included oral tacrolimus (1 mg twice daily) and mycophenolate mofetil (180 mg twice daily). She also had prednisolone (10 mg twice daily) immediately after LT and gradually tapered to 5 mg daily. Prophylactic medication included fluconazole (200 mg daily), trimethoprim-sulfamethoxazole (TMP-SMX) (480 mg daily) and acyclovir (400 mg tds) were also given for 3 months. She developed biliary anastomotic stricture and bile leakage, which improved with repeated endoscopic retrograde cholangiopancreatography with balloon dilatation without stenting. The last endoscopic retrograde cholangiopancreatography was performed at 22 months after LT. At 25 months after LT, she was admitted because of a 2-day history of fever, dyspnea and dry coughing. At admission, her blood pressure was 132/80 mmHg, pulse 106 beat per minute, and SpO2 88% at ambient air. SpO2 improved to 95% with supplemental oxygen (2 L/min) via nasal cannula, but rapidly deteriorated requiring 100% oxygen via re-breathing mask to maintain SpO2 ≥ 92%. Chest X-ray (Fig. a) and other investigations were performed (Tables and ). Pneumocystis jirovecii, CMV and RSV were detected in bronchoalveolar lavage by respective accredited in-house polymerase chain reaction. Her condition improved with intravenous TMP-SMX (trimethoprim component at 15 mg/kg/d divided in every 8 h), a tapering dose of corticosteroid for PCP and intravenous ganciclovir (5 mg/kg every 12 h as induction, followed by 5 mg/kg every 24 h as maintenance) for CMV. Her immunosuppressants were reduced and tapered during the PCP treatment. On day-10 TMP-SMX, her chest X-ray showed subcutaneous emphysema bilaterally and right pneumothorax suspected of pneumomediastinum (Fig. b). Computed tomography of the thorax confirmed the presence of right pneumothorax, pneumomediastinum and subcutaneous emphysema (Fig. ). She was managed with 7-day chest drain in situ with a standard Argyle-type chest tube of Fr-32 until her right lung re-expanded, in addition to 21-day TMP-SMX. She was not put on mechanical ventilation. She survived and was discharged on day 31 after admission. Chest X-ray on discharge showed resolution of the pneumothorax (Fig. ).
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pmc-6339688-1
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A newborn female of an uneventful pregnancy of a 40-year-old woman was delivered on 1 January 1999 via cesarean section (CS) at full term, because of previous CS. She is the sixth child of non-consanguineous Saudi Arabian parents who were originally from Gizan. During her gestational period, routine fetal ultrasonographic (US) scans at the 34th week reported mild ventriculomegaly without mention of any associated brain tumor.
At birth, her Apgar score was 8 and 10, and her weight was 3150 g. Her head circumference after birth was in the 90th percentile, and the anterior fontanel was 20 × 20 mm and soft. The initial neurological exam was normal, apart from a squint, and her parents were reassured.
At the age of 3 days, her mother brought her to a polyclinic because of poor feeding. She was reassured, and a change of milk formula was satisfactory for 1 week. Because of her recurrent vomiting and irritability, a computed tomography (CT) scan was performed, which reported a large posterior fossa tumor with obstructive hydrocephalus.
On admission at 20 days old to King Abdulaziz University Hospital in Jeddah, she presented with frequent vomiting, poor feeding, and increasing head circumference. The general physical exam revealed an irritable and emaciated baby in the second percentile of weight for her age. Head circumference was 45 cm with visibly dilated scalp veins and bulging anterior fontanel. Neurological exam demonstrated a conscious baby with spontaneous movement of her upper and lower extremities with mild spasticity. Cranial nerves exam was uneventful apart from Parinaud’s syndrome (Fig. ). Pupillary reflex was sluggish to light and vision was normal with no papilledema detected. Routine laboratory screening tests were within normal limits. Magnetic resonance imaging (MRI) scans revealed a heterogeneous 60 × 55 × 45 mm midline tumor filling most of the posterior fossa, causing anterior displacement of the brain stem and marked obstructive hydrocephalus (Fig. ). The tumor was iso- to hyperintense on T1-weighted images and hypointense on T2-weighted images with heterogeneous enhancement.
Through a midline suboccipital craniotomy, complete resection of the tumor was achieved. During surgery, an encapsulated solid vascular tumor occupying the fourth ventricle was encountered with diverse areas of soft and firm consistency. The baby remained stable hemodynamically throughout the surgery and received a total of 250 ccs packed RBC blood. During the operation, cerebrospinal fluid (CSF) was obtained for analysis, which was within normal limits for chemistry and cell counts. CSF cytology and tumor markers studies, human chorionic gonadotropin, and alpha-fetoprotein were negative. Histopathological examination of the specimen demonstrated a variety of tissues from all three germ layers, including immature as well as mature elements. The predominant tissue was neuroectodermal, in the form of neuroepithelial rosettes and tubules, resembling neuroblastoma. Mesodermally derived immature cartilage and primitive stroma were also seen, and endodermally derived respiratory and enteric epithelium was present in the form of cystic structures (Fig. ). The diagnosis was consistent with immature teratoma. During the postoperative period, the baby developed pneumonia that was resolved with intravenous antibiotics, and early postoperative MRI scans confirmed complete resection. She was discharged home on the 15th postoperative day in good condition. The infant received and well tolerated adjuvant carboplatin and etoposide (CARE) chemotherapy.
At the first year anniversary follow-up, she had a mild developmental delay with a slight improvement of Parinaud’s syndrome. Follow-up MRI scans at the fifth year of age revealed the stable size of the ventricles with no tumor recurrence (Fig. ). The patient was followed annually and had normal cognitive and neurological development; she is a university student and her recent CT scan at the age of 20 years revealed no recurrence (Fig. ).
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pmc-6339691-1
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A 27-year-old Japanese man with mild mental developmental retardation presented with a 1-year history of bilateral visual impairment as well as a 3-month gradually progressive general fatigue. He had no history of epileptic seizures. Neurological examination revealed blindness of the left eye, half-blindness of the right eye on the ear side, and cognitive dysfunction according to the Mini Mental State Examination 21/30. Fundus examination revealed no papilledema. Magnetic resonance imaging (MRI) revealed a 77 × 63 × 85-mm tumor that arose from the pituitary and extended bilaterally through the anterior skull base, the clivus, and the cavernous sinus, with compression of the optic chiasm and the bilateral frontal and temporal lobes (Figs. and a–c). The patient was administered antiepileptics, such as 1000 mg/day levetiracetam, for prevention of seizure attack. His hormone profile showed hyperprolactinemia 25,270.0 ng/ml (3.6–12.8 ng/ml) and dysfunction of the other pituitary hormones (testosterone, < 0.04 ng/ml [1.3–8.7 ng/ml]; follicle-stimulating hormone, 0.54 mIU/ml [2.0–8.3 mIU/ml]; luteinizing hormone, < 0.10 mIU/ml [0.79–5.7 mIU/ml]; thyroid-stimulating hormone, 4.94 μIU/ml [0.5–5.0 μIU/ml]; free thyroxine 4, 0.6 ng/dl [0.9–1.7 ng/dl]; growth hormone, 0.22 ng/ml [0.0–2.5 ng/ml]; and adrenocorticotropic hormone, 1.7 pg/ml [7.2–63.3 pg/ml]) (Table ). The patient received a diagnosis of a giant PRLoma with hypopituitarism. We started DA therapy with CAB 0.25 mg once per week, supplemented by daily oral hydrocortisone.
Eight days after starting DA therapy, the patient had a tonic-clonic seizure with loss of consciousness that developed into status epilepticus. Incubation and general anesthetic therapy were required. The patient was admitted to the intensive care unit. An electroencephalographic examination was continuously performed; however, no findings of epileptic changes were found after general anesthesia. There was no abnormality in the laboratory analysis that may have led to status epilepticus. The patient’s blood level of PRL markedly decreased from 25,270.0 to 948.2 ng/ml. MRI revealed significant reduction of the tumor in a short period without pituitary apoplexy, including hemorrhagic or ischemic change (Figs. and c, e, f). According to the significant reduction of the tumor, the bilateral mesial temporal lobes returned to medial position. Further, a hyperintense area in left frontal lobe appeared on T2 -weighted images (Fig. ). Because of the possibility that the epileptic seizures were induced by the rapid shrinkage of the tumor, we suspended DA therapy until the seizures were under control with the antiepileptic drug levetiracetam 2000 mg/day. General anesthetic therapy was required for the control of seizures for 2 weeks. After 4 weeks, we resumed DA therapy with extremely low doses of CAB. Both the level of PRL and the tumor size were gradually reduced without further seizures. The patient was able to return to daily life with medication of antiepileptics and oral hydrocortisone and levothyroxine.
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pmc-6339706-1
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A 49-year-old male presented to our hospital for severe pain in his right flank of 2 hours duration following Extracorporeal Shockwave Lithotripsy (ESWL) performed on the same day for a stone in his right kidney. His past medical history includes nephrolithiasis, for which he underwent ESWL 3 years prior to presentation. At presentation, the patient was afebrile and hemodynamically stable with normal vital signs. Examination revealed exquisite tenderness over the right costovertebral angle. Laboratory studies revealed a hemoglobin value of 14.9g/dL, a hematocrit of 43.9%, creatinine of 1.03 mg/dL, and BUN of 30 mg/dL. An abdominal CT with contrast revealed 17x13x11 cm right perinephric hematoma with evidence of active contrast extravasation in the arterial phase (). A decision was made to send the patient for emergent arteriography. Catheterization was performed with a 5F Cobra catheter and contrast injection revealed active extravasation arising from the small branches of the middle subsegmental posterior renal artery (). The subsegmental branches were cannulated using a 2.7F Cobra catheter, and contrast injection revealed two bleeding branches from the posterior capsule. Embolization with 0.018 microcoils was performed and subsequent contrast injection did not show evidence of extravasation (). The patient was admitted for monitoring and supportive care. Serial complete blood count revealed a steady decline of hemoglobin concentration to reach 9.3g/dl on the 3rd day of hospitalization. At the time, the patient had nausea, fatigue, pallor, and tachycardia. He was successfully managed with transfusion of 1 unit of packed red blood cells and IV hydration. A follow-up CT scan revealed a slight reduction in the size of the hematoma to measure 16x12x10cm. Throughout his hospitalization, the patient's renal function was intact as determined by a stable creatinine value of 0.8 mg/dL (estimated GFR = 105ml/min/1.73m2 as calculated by CKD-EPI). Following hemodynamic stabilization and symptom resolution, the patient was discharged after a 4-day hospitalization and was followed up on an outpatient basis.
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pmc-6339722-1
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When attending a flight in correspondence to Spain in Paris Charles de Gaulle international airport, a 34-year-old woman became agitated and subsequently convulsed. Airport medical services were called. According to the flight attendants, the patient was coming from Brazil and complained of abdominal pain during the flight. Initial examination showed Glasgow Coma Score of 6, blood pressure of 175/104 mmHg, heart rate of 136/min, and SpO2 of 93% while breathing air. The patient presented general seizures, bilateral mydriasis, and intense sweat. Suddenly, cardiac arrest occurred. The patient was successfully resuscitated by the medical prehospital emergency team and immediately referred to our medical intensive care unit (ICU).
On ICU admission, the patient was relatively stable. She was intubated and mechanically ventilated. Her blood pressure was 100/62 mmHg and heart rate was 113/min. Physical examination was normal except limited crepitation at pulmonary auscultation. Routine chemistry tests showed sodium 162 mmol/L, potassium 3.6 mmol/L, creatinine 116 µmol/L, bicarbonate 10.5 mmol/L, and and lactate 18.3 mmol/L. Serum creatine kinase was 284 IU/L and troponin I was 5 µg/L. Electrocardiogram revealed irregular tachycardia with enlarged 0.130 s QRS complex. Pregnancy screening was positive but the exact term of pregnancy was unknown although estimated to be in the first trimester. Urine toxicological screening was positive for cocaine. Given the patient's medical history and presentation with abdominal pain, sustained sympathomimetic syndrome and intraventricular block on the electrocardiogram, cocaine body packing was suspected and abdominal plain X-ray performed, showing multiple bags in the gastrointestinal tract ().
Rapidly after ICU admission, her cardiovascular situation worsened with typical rapid ventricular tachycardia onset accompanied by a decrease in blood pressure. The patient was transferred to the operating room and immediate laparotomy was performed, allowing the extraction of 50 packets of cocaine in which five were ruptured. Therapeutic hypothermia at 33°C was performed using cold blankets and ice packs during 24 hours. Rapidly after weaning sedation, the patient's conditions improved. Epinephrine was withdrawn. The patient was extubated 24 h postsurgical. ICU outcome was uneventful except for hospital-acquired pneumonia. The patient was discharged on day 4 without neurological sequelae. A few months later, she gave birth to a healthy baby.
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pmc-6339732-1
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A 77-year-old female patient presented to her general dentist due to bleeding gums. The dentist referred the patient to a specialist periodontist for a consultation regarding the assessment and treatment of generalized chronic periodontitis. A full comprehensive periodontal and radiographic examination revealed a periodontal diagnosis of generalized moderate to advanced chronic periodontitis. Clinical signs of gingival inflammation and periodontal pockets of 5 mm and more with calculus and bleeding upon probing were present on two or more aspects of each tooth. The radiographic examination revealed a generalized horizontal bone loss of 40 to 50% around most of the dentition. The patient was then referred to the Oral Medicine Clinic for diagnosis and further management of OLP-like lesions. Incisional biopsies were performed from the left buccal mucosa and 13/14 labial gingiva (Figures and ). Histopathological assessment showed hyperkeratosis and band-like lymphocytic infiltrate in the lamina propria (). No epithelial dysplasia was noted. These features are consistent with the diagnosis of OLP. Patient education and awareness was delivered in the context of diagnosis, potential triggering factors, and disease malignant potential. Long-term observation is necessary, and the patient will be followed up regularly to monitor disease behavior and progression.
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pmc-6339743-1
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A 79-year-old man presented with gradually enlarging painless swelling in the left parotid region over an 8-month duration. Past medical history revealed that he was treated 11 years ago for a malignant SFT in the anterior mediastinum (Figures and ) by complete excision followed by radiotherapy. He was regularly followed up every year for mediastinal disease with clinical and radiological examination. Since there was no clinical or radiological evidence of new disease or recurrence on follow-up for 10 years, he was later discharged from the care.
On clinical examination of this new left parotid lump, a 3 × 3 cm mass in the left parotid with no overlying inflammation was found. The lesion was well circumscribed, not tender, and soft in consistency. There was no palpable cervical lymphadenopathy. The rest of the clinical examination was unremarkable. Ultrasound imaging revealed well-defined pseudocystic lesion within the superficial lobe of the left parotid gland. Magnetic Resonance Imaging (MRI) also demonstrated a well-defined mass within the left parotid arising likely from the parotid fascia with no evidence of parenchymal or neurovascular invasion. The lesion showed high signal intensity on T1- and T2-weighted images and homogeneous enhancement postcontrast and restricted diffusion (). The right parotid and submandibular glands appeared normal. No cervical lymphadenopathy was found. Fine-needle aspirate was nondiagnostic. Radiological examination of other potential SFT sites did not reveal any pathology. Histopathological examination of tumour () following left-sided superficial parotidectomy showed plump spindle-shaped cells with indistinct cytoplasmic borders and some variation in nuclear size. There was prominent admixed vascular component composed of thin-walled channels with infrequently and vaguely haemangiopericytomatous appearance. Tumour necrosis and high mitotic activity seen with malignant lesions were not observed. Immunohistochemistry indicated diffuse strong expression of CD34, BCL-2, and CD99 and showed nuclear expression with a punctuate morphology for STAT6. Histopathological findings were confirmatory of SFT.
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pmc-6339744-1
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An otherwise healthy, nonsmoking, 31-year-old male (25.0 kg/m2) was involved in a dirt bike accident and sustained an isolated type II distal diaphyseal tibia fracture with an associated segmental fibula fracture (). Neurovascular assessment demonstrated no deficits, and inspection of the leg revealed a 1 cm transverse wound contaminated with grass. The patient initially underwent bedside irrigation and received intravenous (IV) cefazolin, gentamicin, and penicillin G. A splint was applied. Intraoperative irrigation and debridement (I&D) followed by placement of a suprapatellar IMN was completed within the first 24 hours after the patient's arrival. The patient received two doses of IV Ancef postoperatively and was uneventfully discharged with nonweightbearing status on the affected extremity. The patient developed progressive knee discomfort and by week four reported severe pain; examination at that juncture identified a large knee effusion, erythema, and minimal tolerance for knee range-of-motion (ROM). Inspection of the fracture site showed mild erythema with serosanguinous drainage. Aspiration of the knee demonstrated cloudy yellow fluid and, its analysis, a white cell count >100,000 with 96% neutrophils; cultures grew gram-negative rods. At this time, patient care was transferred to the senior author.
I&D of the knee, fracture site, and intramedullary canal was completed following the removal of hardware. Discolored fluid was noted in the knee with palpable loculations in the suprapatellar pouch. Grass was identified in the knee and at the fracture site. A synovectomy of the loculated tissue in the knee was completed, and the surgical footprint at the fracture site was extended proximally and distally to permit local debridement of the bone and soft tissue; nonviable skin was excised resulting in a 1 × 3 cm soft-tissue defect directly over anteromedial tibial fracture site. A reamed irrigator aspirator (RIA) was used to debride the entirety of the intramedullary canal. A total of two separate debridements were performed. Following the second debridement, the soft-tissue defect was too large for primary closure and discussion with the patient included a flap for soft-tissue coverage or use of a Taylor spatial frame with induced deformity to allow primary soft-tissue closure. The patient opted for a frame.
A three-ring frame was applied to the tibia followed by application of Fast-Fx (Smith & Nephew, Memphis, TN) struts between the rings above and below the fracture site. An anatomic reduction of the tibia was completed prior to wound closure, and the strut lengths were recorded; baseline pulses were monitored with a Doppler, and capillary refill was noted. The fracture site was shortened and varus recurvatum deformity was induced until tension-free primary closure of the wound was possible; the struts were fastened, vascular status reassessed, and wound closed (Figures and ). Postoperatively, the patient had no change in neurovascular status.
Patient's sutures were maintained for four weeks (wound healed) at which point deformity correction commenced at a rate of 0.75 mm per day for a 27-day period (). Throughout the 27-day period, the patient was evaluated weekly, the soft tissues remained intact, near-anatomic alignment was achieved, there were no signs or symptoms of infection, and the patient completed parenteral antibiotics prescribed by the infectious disease team to treat Enterobacter cloacae and Enterococcus faecalis. Once anatomic alignment was achieved, the fracture site was compressed, the foot ring was removed, the patient initiated weightbearing, and the patient was evaluated monthly. At week 24, the frame was removed as radiographic fracture union was achieved (). At final follow-up (postoperative month 16), the patient displayed a nonantalgic gait, fully healed surgical sites (), and no signs of infection and was working full-time as an auto mechanic.
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pmc-6339750-1
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A 65-year-old African American male presented to the clinic with a painless hard palate mass that had slowly enlarged over a period of 7 months. The mass was associated with bleeding, dysphagia, and dysphonia. The patient's medical and family history were unremarkable. On physical exam, a pink exophytic lesion was easily visualized on the left maxillary alveolar ridge. The lesion measured nearly 10 cm in diameter and extended across the midline. The mass was friable, with a central area of ulceration and necrosis.
Panoramic radiograph showed erosion of the maxillary bone in the area of the lesion, and computed tomography (CT) demonstrated a 7.0 cm × 6.6 cm × 7.5 cm irregularly enhancing mass lesion centered on the left maxilla ().
A punch biopsy was performed at an outside institution at the anterior superior portion of the lesion, and pathologic examination revealed oral mucosa consistent with a malignant glandular epithelium neoplasm. The lesion was poorly demarcated and consisted of glandular cells, primarily a monomorphous population of optically clear cells with central hyperchromatic and pleomorphic nuclei surrounded by clear cytoplasm. The neoplastic clear cells were arranged in nests, cords, and anastomosing trabeculae embedded in hyalinized, acellular, predominantly basophilic stroma. The overlying squamous mucosa was intact keratinized, acanthotic squamous epithelium. The neoplastic cells were periodic acid-Schiff (PAS) positive, which was abolished by diastase and mucicarmine negative. These results suggested that the clear cytoplasm was due to glycogen accumulation, not mucin production. Neoplastic cells were positive for pancytokeratin AE1/AE3, cytokeratin 7, smooth muscle actin, S-100, and p-40, which is consistent with myoepithelial differentiation. The tumor demonstrated a nodular infiltrative growth pattern, lacked overt ductal differentiation, and showed several areas of necrosis, including nests with comedo type necrosis. Although the cells were relatively bland cytologically, the infiltrative growth pattern suggested the diagnosis of myoepithelial carcinoma over myoepithelioma.
At our institution, a near-total maxillectomy was performed which included the hard palate, soft palate, alveolar process, upper left maxilla, and nasal septum. Bilateral modified radical neck dissection, free tissue reconstruction, and tracheostomy were performed concurrently. The specimen size was 9.2 × 6.5 × 6.5 cm, and an exophytic tumor grossly involving the left hard palate invaded into the sinus cavities. Sectioning revealed a light tan, solid tumor, measuring 7.0 × 6.5 × 5.2 cm (). It appeared to replace the majority of the hard palate and was adjacent to the lateral maxillary bone.
Histologic examination revealed similar findings to those described by the outside hospital: a poorly demarcated lesion consisting of nests of pleomorphic and hyperchromatic clear cells (). Subsequent staining for p40, smooth muscle actin, CK7, EMA, and calponin confirmed a diagnosis of myoepithelial carcinoma, clear cell variant, moderately differentiated (). The surgical margins were focally positive for invasive carcinoma. No lymphovascular or perineural invasion was noted. Tumor invasion of nearby structures included the cortical mandibular and maxillary bone, deep extrinsic muscle of the tongue (genioglossus, hyoglossus, palatoglossus, and styloglossus), maxillary sinus, and skin of the face. The lymph node dissection included 74 lymph nodes examined, and no metastatic disease was identified. These findings corresponded to a pT4aN0 pathologic staging.
Due to the advanced tumor stage (T4), the patient underwent postop radiation to the primary site and neck. Twelve weeks after radiation (seven months after the surgery), positron emission tomography/computed tomography (PET/CT) revealed mildly hypermetabolic bilateral pulmonary nodules that were concerning for metastatic disease (). The patient was lost to follow up after this visit.
At 17 months after resection of the neoplasm, the patient returned for follow-up. The patient denied any difficulty breathing, hemoptysis, or weight loss but was wearing a cervical collar due to report of a spine metastasis. Outside CT of the thorax showed bilateral pulmonary nodules of various sizes throughout all lung lobes (). In comparison to the CT that first showed lung nodules, the nodules have increased in size and number. The largest nodule in the right lung was located in the right middle lobe, measuring 1.7 × 2.0 cm, while the largest nodule in the left lung was located in the left lower lobe, measuring 2.6 × 4.2 cm. No pathologically enlarged lymph nodes were identified within the mediastinum. Outside repeat PET/CT and MRI of the spine also confirmed likely metastasis to the C2 body. Bronchoscopic biopsies of two lung nodules from the left lower lobe showed morphology consistent with metastatic CCMC ().
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pmc-6339751-1
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A 63-year-old gentleman with a past medical history of alcoholic cirrhosis presented with acute dyspnea, tachycardia, and hypotension to an outside hospital. He was found to have a massive pulmonary embolism bilaterally on Computed Tomography Angiography (CTA) chest. Additionally, there was a sizable thrombus in the right atrium partially extending through patent foramen ovale. Ultrasound Doppler of lower extremities was negative for deep venous thrombosis. The massive PE was managed surgically for immediate stabilization with complete embolectomy followed by patent foramen ovale closure. There was no residual thrombus noted; however, CTA scan was not repeated to evaluate peripheral pulmonary artery thrombosis. Unfortunately, the procedure was complicated by postcardiotomy shock. He failed to be wean from the cardiopulmonary bypass machine and vasopressors (vasopressin, norepinephrine, and epinephrine), thus requiring central Venous-Arterial Extracorporeal Membrane Oxygenation (VA ECMO) support until recovery. Anticoagulation provided perioperatively kept his activated clotting time (ACT) greater than 300s for a few hours. Once ACT was within therapeutic range, he was reinitiated on anticoagulation with a heparin bolus of 50units/kg, followed by continuous infusion at 7.5 units/kg thereafter per ECMO management protocol of the hospital. VA ECMO settings were maintained with a flow of 4.6-4.8 L/min and sweep gas flow rate of 3-4 L/min. His mean arterial pressure was above 65 mmHg and pulmonary arterial pressure was elevated at 29-65 mmHg systolic and 7-25 mmHg diastolic.
On postoperative day 1 (POD 1) he continued to have high flow on VA ECMO, but was noted to have increasing bleed from his nasogastric tube. His hemoglobin dropped from 13.9 gm/dL to 7.5 gm/dL with a hematocrit of 21.6%. His workup was also significant for chronic unchanged thrombocytopenia of 40-50 k/mm3. At this time, systemic anticoagulation was transiently discontinued due to continued bleeding. He was managed with a transfusion of packed red blood cell, platelets, cryoprecipitate, and fresh frozen plasma over a span of 12 hours. In the meantime, he also underwent upper endoscopy, which revealed erosive esophagitis and gastric mucosal erythema, for which he received high dose intravenous proton pump inhibitors. After the completion of the blood products transfusion, his bleeding stopped. Thereafter, he was started on heparin drip at the rate of 10 units/kg/hour and managed with an activated clotting time over 200s, activated partial thromboplastin time 35-75s, and anti-Xa level 0.30-0.70 IU/ml.
His settings and flow on VA ECMO remained unchanged and he seemed to improve hemodynamically with less requirement of vasopressors in the next 24 hours. He was weaned off epinephrine. His point of care echocardiogram also revealed good cardiac activity without any visible clots. However, towards the end of POD 3, he was noted to develop worsening tachycardia, reduction in ECMO flow to 3.6L/min, and thrombosis of the mediastinal tube. Serotonin release assay for assessment of heparin induced thrombocytopenia (HIT) was negative. A bedside transesophageal echocardiogram revealed global hypokinesis and severe LV dysfunction. Additionally, there was a notably large in situ right ventricular thrombus with a posterior circumferential pericardial clot extending from 3 to 9 o'clock position surrounding the left and right ventricles. He was re-operated immediately with the removal of 1.5L blood and thrombus from the pericardium and mediastinum. There was no obvious site of bleeding noted; however repeat transesophageal echocardiogram suggested reformation of a total right ventricular thrombus, which was confirmed by a transthoracic echocardiogram. The thrombus extended to the main pulmonary artery and its branches. At this point, the family decided to pursue palliative care due to his poor prognosis and the patient expired within the next few minutes (Figures , , and ).
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pmc-6339752-1
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A 69-year-old woman, with a history of medication for hypertension, was referred to our hospital because of gait disturbance. Head MRI revealed three separate lesions in the cerebellum: the largest lesion of approximately 15 mm in diameter in the left cerebellum near the vermis with relatively regular enhancement (), the lesion of slightly smaller size in the right cerebellum with ring enhancement (), and the tiny lesion in the upper right cerebellum located far from the two lesions (Figures –). The smallest lesion was not connected to any other lesions on T2/FLAIR (Figures –).
We suspected these lesions were metastatic tumors and performed thorough examination of whole body, which resulted in negative for any primary lesions. Because all lesions were small and debulking surgery was unnecessary, we decided to perform biopsy surgery targeting at the lesion near the vermis. We underwent needle biopsy under the guidance of navigation system, and postoperative course was uneventful. Histopathological examination revealed tumor cells with eosinophilic cytoplasm and pleomorphism, which were characterized by dense proliferation and diffuse infiltration in the granular cell layer of the cerebellum (). Nuclear pleomorphism and mitotic figures were observed, but microvascular proliferation and micronecrosis were not detected (). Immunohistochemistry revealed the tumor cells were diffusely positive for glial fibrillary acidic protein (GFAP) () and positive for p53 in large part (). In particular, p53 clearly showed infiltrating tumor cells at distant area (). IDH1 and H3K27M were negative. MIB-1 labeling index was 21.3% (). These findings were consistent with WHO grade III anaplastic astrocytoma.
For molecular genetic characteristics, DNA was extracted from frozen tumor tissue. IDH gene was analyzed by direct sequencing, and allelic status of 1p/19q, EGFR, PDGFA, and PTEN was analyzed by multiplex ligation-dependent probe amplification (MLPA) method using SALSA MLPA kit P089 and P105 in accordance with the manufacturer's protocol (HRC Holland, Amsterdam, the Netherlands) []. These analyses revealed that the tumor had no allelic loss of 1p/19q, no mutation of IDH, no loss of PTEN, but had the amplification of EGFR and PDGFA.
The treatment with whole skull radiation (60 Gy) concomitant with temozolomide was administered and completed without any major side effects. Although the lesions were enlarged during the treatment (Figures –), the patient was discharged in an independent state; the patient was unexpectedly transferred to our hospital due to sudden loss of consciousness and was in the state of cardiopulmonary arrest on arrival. She died shortly despite all possible procedures. CT scans taken immediately after her death revealed no apparent changes in the intracranial area including the cerebellum, thereby denying the correlation of cerebellar glioma with her sudden loss of consciousness. Nothing was found in the whole body that could explain the causes of her death, either. The autopsy was not performed because the consent was not obtained from her family.
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pmc-6339753-1
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A 55-year-old male with a history of CALR-positive, low-risk MF by the Dynamic International Prognostic Scoring System (DIPSS) was initiated on 5 mg twice daily ruxolitinib treatment given progressive splenomegaly and worsening night sweats. He experienced an outstanding symptomatic response without significant improvement in splenomegaly. His aminotransferases, which were normal prior to ruxolitinib initiation, became mildly elevated, with ALT rising from 64 U/L at initiation to 232 U/L after 5 months of therapy. The patient was not on other hepatotoxic medications. A transjugular liver biopsy was obtained, which demonstrated significant EMH and diffuse sinusoidal infiltration with atypical appearing megakaryocytes, without evidence of steatohepatitis or drug-induced liver injury (DILI) (). Given the finding of EMH, the ruxolitinib dose was increased to 10 mg twice daily with immediate and sustained improvement in ALT to 85 U/L. He is currently being evaluated for an allogeneic hematopoietic stem cell transplantation.
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pmc-6339753-2
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A 66-year-old male with a history of PV was initiated on ruxolitinib 10 mg twice daily for worsening leukocytosis and massive splenomegaly. He experienced an excellent initial response with significant reduction in palpable splenomegaly by 50%. However, serum levels of alkaline phosphatase (ALP) began to rise from a baseline of 113 U/L to 311 U/L after 2 weeks of exposure to drug. The ALP peaked at 1286 U/L after approximately 8 months of ruxolitinib exposure. He did not start any other medications or supplements during this time. He was continued on a higher dose of ruxolitinib at 15 mg twice daily for presumed EMH. The ALP remained elevated at 334 U/L, so a liver biopsy was performed at that time, demonstrating granulomatous hepatitis with ductopenia (), which was attributed to DILI. Shortly afterwards, he expired from hypoxemic respiratory failure in the setting of a lobar pneumonia. This represents a potential case of DILI due to ruxolitinib given the temporal relationship between ruxolitinib initiation and a grade 3 ALP rise, and further supported by the liver biopsy findings.
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pmc-6339753-3
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A 74-year-old male with high-risk JAK2V617F-positive post-PV MF was initiated on ruxolitinib 10 mg twice daily to address worsening splenomegaly and debilitating fatigue. The patient experienced improvement in symptom burden and a decrease in palpable spleen size by 20%. However, he began to experience worsening ascites requiring large-volume paracentesis. Additionally, the ALP rose to 335 U/L from a baseline of around 180 U/L. Given the unknown cause of his liver dysfunction, he underwent a transjugular liver biopsy, demonstrating the presence of both EMH and OPV (). Because of these findings, the ruxolitinib dose was increased to 20 mg twice daily with improvement in symptoms and ascites and decrease in ALP to 151 U/L within 5 months.
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pmc-6339753-4
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A 49-year-old male with DIPSS intermediate-2 risk, JAK2V617F-positive post-PV MF, and a history of portal vein thrombosis was started on ruxolitinib at 10 mg twice daily for splenomegaly. He attained an excellent symptomatic response but was noted to have an increase in total bilirubin to 2.6 mg/dL (44.5 μmol/L) from a normal baseline. During this time, no new medications were started. Although some hyperbilirubinemia can be attributed to hemolysis, he underwent a liver biopsy which demonstrated OPV with extensive EMH. He was continued on ruxolitinib 15 mg with improvement in total bilirubin to 1.3 mg/dL (22.23 μmol/L).
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pmc-6339756-1
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We report a case of a 14-year-old boy with type 1 diabetes from the age of 9 years treated with insulin 4 injections per day and followed up one year ago for adrenal insufficiency treated with hydrocortisone 25mg per day. His maternal uncle had a type 2 diabetes and his sister has been diagnosed with corticoid-induced diabetes; no family history of dislipidemia was reported. This child presented to the emergency room with severe abdominal pain and vomiting and he was found to have DKA, with an elevated lipase of 1000 U/L, and his abdominal ultrasound was suggestive of acute pancreatitis associated with moderate peritoneal effusion. His abdominal computed tomography (CT) showed pancreatitis grade E with antropyloric parietal thickening extended to the 2nd part of the duodenum associated with peritoneal effusion and a moderate hepatomegaly; the imaging did not show any other anomaly causing acute pancreatitis (Figures , and ). His plasma triglyceride (TG) level at admission was very high 64 g/L, and C- reactive protein was elevated at 358 mg/L, and other biochemical values were at the normal range. Fluid resuscitation and insulin therapy have been started and, on arrival to the pediatric intensive care unit, he was treated with the continuous insulin infusion, fenofibrate 160mg per day, antibiotic (third-generation cephalosporins 2g per day), and hydrocortisone 50mg four times per day intravenously. The indication of plasmapheresis was not retained in the light of the reduction in triglyceride levels.
He was transferred to our department one week after stabilization. History revealed steatorrhea 15 days before admission and a glycemic imbalance with hemoglobin A1c level of 11.5% (2 months before his admission). Our patient had a Glasgow score of 15/15, pulse rate 80/min, respiratory rate 16/min, and blood pressure 90/61mmHg. Anthropometric measurements showed weight of 44 kg, height 155 cm, body mass index 18.3 kg/m2, and a capillary glycemia of 3.38 g/L with presence of urine ketone; there was no eruptive or tuberous xanthoma or xanthelasma at the skin.
The therapeutic management was continued by correction of diabetic ketosis, fenofibrates, and the use of unsaturated oils: omega 3.6.9. The evolution was favorable: clinical improvement marked by disappearance of pain and a biological improvement ().
At the follow-up, the monitoring was favorable, the level of triglycerides gradually decreases until normalization, and the last rate is 1.56 g/L.
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pmc-6339757-1
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The authors present a clinical case of a 64-year-old female patient, with no relevant medical history (including trauma), who went to the emergency department of our hospital presenting a clinical scenario with a few years of left intense headache and left hemifacial pain that worsen with head movements, purulent and sometimes greenish rhinorrhea, and cacosmia.
The patient had a history of microsurgery of paranasal sinus more than 30 years ago in another hospital, due to complaints compatible with chronic rhinosinusitis.
The otorhinolaryngologic examination, in particular anterior rhinoscopy complemented with nasofibroscopy, revealed a congested nasal mucosa, a dark friable lesion at the middle meatus, and the first diagnostic hypotheses were rhinolith/fungal rhinosinusitis. In the emergency department, she underwent a cranial computed tomography (CT) scan that identified “… lesion at the level of the left paranasal sinuses compatible with fungal rhinosinusitis.”
She was referred to an Ear, Nose, and Throat appointment. A paranasal sinus CT scan identified “… tubular foreign body, about 37 × 5 mm prehypertensive, filled with soft tissues inside the left nasal fossa, the left middle meatus and anterior ethmoid. Also, signs of chronic inflammation were observed, with thickening of the right frontal sinus mucosa, the ethmoidal cells, the sphenoid and the maxillary sinuses, associated with sclerotic osteitis of the bone walls that delimit the maxillary and sphenoidal sinuses” ().
She was also subjected to a complementary study with magnetic resonance of the SPN to best characterize the lesion which revealed “… centred on the left middle meatus, but extending to the posterior portion of the complex anterior ethmoid on the same side, where there is apparently a focal bone continuity solution of the base of the anterior floor, a cylindrical/tubular configuration void with peripheral soft tissue component. It is about 3.8 cm larger in diameter and probably corresponds to extrinsic material and, given its regular configuration, it is unlikely that the alternative hypothesis is a mycetoma.”
She underwent functional endoscopic sinus surgery (FESS) with antrostomy, anterior and posterior ethmoidectomy, debridement of the necrotic tissue and removal of the foreign body that proved to be a cylindrical structure, which was a piece of glass. During the follow-up, in 6 months after surgery, the patient remained completely asymptomatic and performed another CT scan which showed no signs of inflammation.
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pmc-6339764-1
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A 48 -year-old Indian woman presented to the gastroenterology clinic with complaints of upper abdominal pain, heartburn, and unintentional 10-pound weight loss over a period of 6 months. Review of the system was negative for headache, nasal discharge, cough, chest pain, shortness of breath, sinusitis, joint pain, or skin rash. Past medical history is notable for hypothyroidism only. Family history and personal history is otherwise unremarkable. Her medications include levothyroxine 50 mcg daily. She underwent EGD, which revealed a solitary 1.4 cm ulcer in the gastric fundus. Biopsy of the ulcer revealed active chronic gastritis with lymphoid aggregates and nonnecrotizing granulomatous inflammation with multinucleated giant cells ().
Histochemical staining and culture results were negative for any bacterial, viral, and fungal infections. The biopsy was negative for gastric carcinoma. She was then empirically treated with proton pump inhibitors. Two months later, the patient presented to emergency room with cough, pleuritic chest pain, and hemoptysis. The CT chest showed two large necrotic masses (): one in the right upper lobe with a cavitary lesion and the other in the mediastinum.
She eventually underwent elective bronchoscopy with transbronchial biopsies and bronchoalveolar lavage (BAL). Right upper lobe transbronchial biopsy showed bronchial mucosa with acute and chronic inflammation (lymphocytes, neutrophils, eosinophils, and rare histiocytes) and small submucosal microabscess. Lung alveolar parenchyma was without significant histopathological changes. The biopsy was negative for any form of lung malignancy. The BAL was negative for pulmonary hemorrhage. No fungi, pneumocystis, or viral inclusion bodies were identified in BAL. Bacterial and fungal and mycobacterial cultures of BAL were negative as well. Infectious disease workup showed positive histoplasma serum antibody but histoplasma urine antigen was negative. Presumed diagnosis of histoplasmosis was made, and she was started on oral itraconazole as outpatient therapy. The patient did not respond well, and her clinical status continued to decline. She then presented to the emergency room with spiking fevers and recurrence of hemoptysis. She was admitted to the inpatient service and started on IV amphotericin-B per infectious disease service recommendations. During hospitalization, she complained of epigastric discomfort. CT abdomen showed opacity around the previously found gastric ulcer and fluid collection adjacent to the stomach and pancreatic bed. Repeat EGD showed further development of a sinus tract in the ulcer, leaking exudate, and necrotic debris. Biopsies of the ulcer again showed mild active chronic gastritis. No evidence of infection or malignancy was identified. During the hospital course, she developed arthralgia and maculopapular pruritic skin lesions on the right flank and both legs. After a week into the hospitalization, the patient developed severe shortness of breath and acute respiratory failure that required intubation and mechanical ventilation. CT chest revealed worsening of the previous right upper lobe cavitary lesion with pleural effusion. Skin biopsy showed leukocytoclastic vasculitis. Further workup showed positive ANA in the low titer (1 : 40, homogenous pattern). Specific antibodies, e.g., anti-dsDNA, anti-Smith ab, anti-SSA and SS-B, were negative. Complements, C3: 113 (90–180 mg/dl) and C4: 12 (10–40 mg/dl), were within normal limits. The C-reactive protein level was 86 mg/dl (normal < 0.5 mg/dl). Serum protein electrophoresis showed polyclonal acute phase reactant pattern. C-ANCA was positive with positive PR3: 7.21 (0.8–1.19 AU/mL). Anti-MPO antibody was negative. At this point, the diagnosis of GPA was established.
She was treated with pulse methylprednisolone 1 g IV daily for 3 days and IV cyclophosphamide 750 mg/m2. During hospitalization, she received a course of sulfamethoxazole-trimethoprim (800–160 mg DS) tab PO twice daily for 5 days for urinary tract infection. She responded very well and was promptly extubated and discharged in two weeks. She was maintained on PO prednisone 1 mg/kg/day and IV cyclophosphamide 750 mg/m2 monthly for the next 6 months. At 3 months post-hospital discharge follow-up, she was completely asymptomatic. Repeat anti-PR3 titer was 3.6 (normal 0.8–1.19 AU/mL). There was a near-complete resolution of pulmonary masses on repeat CT () and complete healing of the ulcer on follow-up EGD.
Prednisone was tapered to 10 mg/d over 6 months while she received monthly IV cyclophosphamide induction therapy. The PR3 antibody level was 1.0 and within normal limits. She was eventually started on PO methotrexate 15 mg/week as maintenance therapy for GPA. While she was on methotrexate, 6 months follow-up CT chest showed relapse of the necrotic lung lesions at the same place as before in the right upper lobe. The ANCA (PR-3) antibody level was 2.8 (normal 0.8–1.19 AU/mL). Clinically, she was asymptomatic. Again, she underwent extensive workup with bronchoscopy, and bronchoalveolar lavage was negative for any infection or malignancy. She was diagnosed with GPA relapse and treated with rituximab 375 mg/m2 every week for 4 weeks and was started on azathioprine 50 mg/day for maintenance therapy. Gradually, the azathioprine dose was increased to 150 mg/day over next 2 months. She was followed up as outpatient closely with repeat CT chest every 6 months, which showed regression of the lung lesion. Approximately, 2 years since her initial presentation, she was in complete remission with resolution of the lung lesion. Interestingly, about a year later, routine follow-up labs in the clinic revealed hematuria with 6 RBCs per high-power field (normal 0–4 per high-power field) and urine protein creatine ratio of 0.67 equivalent to 24 hours urinary protein of 670 mg. Follow-up 24-hour urine collection showed proteinuria of 1.3 gm. Physical examination was unremarkable. Her repeat antibody profile showed positive ANA: 206 (normal <100 au/ml), anti-dsDNA Ab:135 (normal <100 au/ml), anti-Smith Ab: 14 (normal < 100 au/ml), anti-RNP Ab: 36 (normal < 100 au/ml), SS-A Ab: 6 (normal < 100 au/ml), SS-B Ab: 7 (normal < 100 au/ml), antihistone Ab: 9 (normal < 100 au/ml), rheumatoid factor: 10 (normal < 14 au/ml), and anti-CCP Ab level: 1 (normal < 5 unit/ml). Follow-up complement levels were normal: C3, 152 (normal: 87–200 mg/dl), and C4, 25 (normal: 19–25 mg/dl). Repeat C-reactive protein levels were 0.6 and 0.7 (normal: < 5 mg/dl). Viral hepatitis screen and cryoglobulin screen were negative. Repeat ANCA and anti-PR3 as well as anti MPO antibodies were negative. Her antibody profile and proteinuria were concerning for new-onset SLE with renal involvement. She was then referred to nephrology and underwent renal biopsy.
Renal biopsy showed diffuse thickening of the glomerular basement membrane (GBM) with normal cellularity on light microscopy (). Mesangial and endocapillary proliferation were negligible. No cellular crescents, pseudocrescents, or acute necrotizing lesions or vasculitis are seen. Immunofluorescent microscopy showed diffuse, granular immunoglobulin deposition along GBM (). Immunostaining was positive for IgG, C3. Electron micrograph () showed subepithelial granular deposits but no subendothelial deposits. Congo red stain for amyloidosis was negative. Staining for anti-phospholipase A2 receptor (PLA2R) and anti-thrombospondin (THSD7a) antibodies were negative, which makes primary membranous nephropathy less likely. Considering the + ANA and double-stranded DNA Ab, the renal biopsy diagnosis was consistent with secondary pure membranous (type V) lupus nephritis. Ultimately, she was diagnosed with SLE/AAV overlap syndrome with class V membranous lupus nephropathy. She was started on lisinopril and was titrated to 20 mg/day. Azathioprine was slowly tapered and discontinued because she has finished 3 years of treatment for GPA. She declined high-dose steroid and mycophenolate mofetil for treatment of lupus nephritis. On follow-up CT scan, she had minor relapse of GPA in the form of enlargement of pulmonary nodule even though she was asymptomatic. The ANCA (PR-3) antibody titer was 1.7 (normal 0.8–1.19 AU/mL). She was given another round of rituximab 375 mg/m2 without induction corticosteroid dose. Follow-up 6 months CT chest showed resolution of the mass. Urinalysis and urine protein/creatinine ratio are negative for proteinuria and hematuria. She is completely asymptomatic and back to her normal activities. The patient has been in full remission for lupus nephritis for 1 year and for 9 months after the last relapse of GPA.
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pmc-6339766-1
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A healthy 25-year-old man presented with recent visual acuity reduction in the left eye (LE) after a blunt ocular trauma he received the day before. Complete ophthalmologic evaluation showed best-corrected visual acuity (BCVA) of 20/20 in the RE and of 20/25 in the LE. Slit-lamp biomicroscopy examination of the anterior segment of the LE showed conjunctival hyperemia and normal pupillary reflex to light. The anterior segment of the RE was normal. Intraocular pressure was 17 mmHg in both eyes. Ophthalmoscopic examination of the LE revealed commotio retinae in the inferior quadrants, four subretinal macular hemorrhages, and two choroidal ruptures located temporally to the fovea. Fundus examination of the RE was unremarkable. The patient underwent imaging with fluorescein angiography (FA), spectral domain optical coherence tomography (SD-OCT), and optical coherence tomography angiography (OCT-A). On FA, choroidal ruptures (CR) were hyperfluorescent in the mid and late phases due to staining. Hemorrhages appeared as round hypofluorescent areas. SD-OCT scans revealed disruption of the retinal pigment epithelium (RPE)-Bruch membrane (BM) complex associated with back-scattering effect. OCTA allows a depth resolved visualization of retinal and choriocapillaris microvasculature. On OCT angiograms, the choroidal rupture appeared as a hypointense break in choriocapillaris plexus (). At 4-week follow-up, FA was repeated and revealed leakage in the perifoveal area in correspondence of the CR. SD-OCT showed an hyperreflective lesion involving the ellipsoid zone (EZ) and outer nuclear layer such as hyporeflective subretinal fluid present next to the choroidal rupture. In the OCT-A enface scan, taken above the retinal pigment epithelium, a well circumscribed lesion with a clear hyperintense signal was observed. Lesion was characterized by numerous and fine anastomotic vessels with a well-shaped peripheral arcade (). Superficial and deep retinal vasculature were spared. Diagnosis of choroidal neovascular membrane (CNV) secondary to choroidal rupture was done. After a written consent was signed by the patient, an off-label intravitreal injection of Bevacizumab (1.25 mg/0.05 ml) was administered in his LE. At 6-week post injection, visual acuity has improved to 20/20. OCTA documented the closure of CNV (). C-scans of the outer retina and choriocapillaris did not show any hyperintense signal. SD-OCT revealed RPE wound healing process as lesion covered by a less hyperreflective layer of RPE. This layer was less hyperreflective than normal RPE.
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pmc-6339773-1
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A 72-year-old male with past medical history of myocardial infarction status postpercutaneous coronary intervention, chronic systolic heart failure secondary to ischemic cardiomyopathy, received a single chamber Biotronik implantable cardioverter defibrillator (ICD) with a Medtronic single-coil defibrillator lead (model 6949-65) in 2005. A year later, the patient also received an investigational device, Optimizer III (Impulse Dynamics, Orangeburg, NY) (model #CCMX8), assembled with St. Jude Medical active fixation pace-sense leads (Model 1388-T), one lead in the right atrium and two in the upper and lower interventricular septum. Prominent electrical signals were identifiable on the patient's surface EKG when CCM was activated.
In August 2014, the old Medtronic lead (Model 6949-65) was found to have a sudden increase in RV impedance to >2000 Ohms with “RED” alert warning of the Biotronik device. The particular Medtronic lead was also a subject of a Class-I recall by the Food and Drug Administration. Subsequently, he underwent laser lead extraction and replacement for a new ICD lead, Medtronic Sprint Quattro (Model 6947) dual coil defibrillation lead. The procedure was uneventful. The function of the new ICD system was assessed, and all the device parameters were found within normal limits. Patient's CCM was eight years old at that time and was found no longer functional due to battery depletion. Hence, the device-device interaction with the concurrent CCM unit was not evaluated.
In earlier 2015, the patient presented with receipt of six ICD shocks without prior symptoms. Interrogation of the ICD disclosed intermittent, noncyclical, and nonphysiologic noise signals. The intracardiac electrogram recording was shown (). All the device parameters were found within normal limits.
Lead failure was unlikely as all sensing and pacing parameters including lead impendence of the new Medtronic Sprint Quattro lead were normal. The signals () were noncyclical and very chaotic, ruling out the T-wave oversensing or crosstalk from far-field P-wave sensing. The noise signals were not suggestive of electromagnetic interference since external interferences are often repetitive high-frequency signals. The signals were not reproducible with isometric arm exercises. The patient was not physically active prior to or during the delivery of inappropriate shocks excluding the possibility of interference from pectoral myopotentials.
The patient underwent fluoroscopic examination () on which right ventricular leads of the CCM unit were found to be chattering with the newly inserted dual-coil ICD lead at the tricuspid annulus. Intracardiac mechanical interference/lead chattering was the cause of inappropriate sensing to result in an inappropriate ICD firing. The intermittent noise signals seen on the device intracardiac electrogram were coincidental with the leads chattering on the fluoroscopy.
The CCM device along with two St. Jude Medical right ventricular pace-sense leads was extracted, but the same ICD unit was left in place. During the follow-ups over two years, no further noise signals had been detected by his ICD and the patient had not received any more inappropriate shocks.
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pmc-6339901-1
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Patient No. 1 was a 30-year-old male with a history of good physical health; a diagnostic consultation did not identify any foci of infection or record of otitis media, sinusitis, or head trauma. His major complaints included 1 week of headache and 3 days of headache aggravation, accompanied by nausea and vomiting. The patient was hospitalized at our department with a body temperature of 36.0°C. The physical examination report conducted at the Department of Neurology showed that the patient had clear consciousness, was apathetic, had a Glasgow Coma Scale (GCS) score of 15, a soft neck, normal limb muscular strength, normal deep, and superficial sensations. After hospitalization, a complete blood count reported a white blood cell count of 8.4 × 109/L (Normal reference range: 4.0–10.0 × 10ˆ9/L), 70.4% (Normal reference range: 50–75%) neutrophils, 20.1% (Normal reference range: 20–40%) lymphocytes, and C-reactive protein (CRP) level of 9.0 mg/L (Normal reference range: 0–10 mg/L). A cardiac echo reminded the heart that everything was normal. Head magnetic resonance imaging (MRI), including a plain scan and an enhancement scan, showed the following: (i) irregularly circular, slightly long, aberrant T1 and T2 signal shadows with sheet-like, long T1 and T2 signals as well as apparently enhanced diffusion-weighted imaging (DWI) signals were observed in the right parietal lobe; (ii) an edge ring wall with a relatively even thickness presented as slightly short T1 and T2 signals; (iii) the ring wall manifested an apparent increase in signal intensity after enhancement; (iv) the lesion was surrounded by large patches of T1 and T2 oedema shadow; (v) the adjacent ventricles and parenchyma displayed compression-resulted deformation; (vi) the midline structures were slightly shifted toward the left (Figures –). The patient received resection of the space-occupying lesion in the right parietal lobe. During the operation, a dark yellow and intact capsule (abscess wall) with brittle texture was visible. Because of its high internal pressure, the yellow, viscous pus was first aspirated to relieve the pressure before the capsule was completely excised. Some residual tissues did not have a clear boundary with the normal brain tissue. A pathological examination showed the presence of inflammatory exudates, necrosis, and granulations (Figures ). After the operation, the patient was provided with an empiric regimen of 1 g meropenem q8h and 1 g vancomycin q12h. A pus culture indicated the presence of Viridans streptococci, and a drug sensitivity test showed that the bacterium was sensitive to vancomycin; thus, the patient was treated with vancomycin 1 g q12h. After the operation, the patient had a low-grade fever that fluctuated around 37.5°C. After 1 week of treatment, his body temperature returned to normal. The complete blood count revealed the following: leukocyte count of 7.1 × 109/L, 65.4% neutrophils, 24.5% lymphocytes, and CRP level of 8.2 mg/L. As such, the patient continued the vancomycin regimen for 2 additional weeks, after which he displayed a remission of the headache and showed normal limb strength. A head computed tomography (CT) scan showed that the space-occupying lesion in the right parietal lobe had disappeared, the surrounding area had large patches of low-density shadows with a blurred boundary, and the midline structures displayed local left-shift (Figure ). The patient was discharged. A physical examination showed that the patient had a normal body temperature, clear consciousness, good articulation, and normal limb muscular strength.
Patient No. 2 was a 45-year-old female with no clear history of recent infection or a past record of sinusitis or otitis media. The patient was hospitalized due to symptoms of headache and right limb weakness for 1 week. A head MRI, including plain and enhancement scans, showed the following: (i) an aberrant, circular space-occupying lesion with long T1 and long T2 signal shadows was observed in the left basal ganglia; (ii) a ring wall with a relatively even thickness presented as slightly short T1 and T2 signals; (iii) the shadow displayed apparent intensification after enhancement; (iv) large patches of long T1 and long T2 oedema shadows were present in the surrounding area of the lesion; (v) the left ventricle exhibited slight compression-resulted deformation; and (vi) the midline structures were shifted lightly toward the left (Figures –). The patient was suspected of glioma at the local hospital and was transferred to our hospital at 9:00 AM the following day. Upon admission, the patient had a body temperature of 36.3°C, severe headache, and apparent agitation. A physical examination at the Department of Neurology revealed dementia, apathy, a GCS score of 10, babbling, soft neck, a lack of resistance, level 3 right limb muscle strength, normal muscular tension, positive Babinski signs. A complete blood count revealed a leukocyte count of 7.5 × 109/L, 72.7% neutrophils, 19.6% lymphocytes, and CRP level of 18 mg/L. A cardiac echo reminded the heart that everything was normal. After hospitalization, the patient received an intravenous infusion of 20% mannitol 250 ml q8h and was prepared for relevant preoperative examinations. Twelve hours after hospitalization, the patient fell unconscious and had a GCS score of 6, enlargement of the left pupil, loss of light response, avoidance of the left limbs upon needling, and slight buckling of the right limbs upon needling. An emergency head CT showed a spheroid shadow of slightly low density present in the left basal ganglia, the surrounding area had large patches of low-density oedema shadows, the left ventricle displayed severe compression-resulted deformation, and the midline structures exhibited a prominent rightward shift (Figure ). The patient was suspected of developing cerebral palsy and thus underwent emergency surgery including lesion resection in the left basal ganglia, resection of the polus temporalis, and a decompressive craniotomy. During the operation, the intracranial pressure was relatively high. As such, the left side of the polus temporalis was first excised, which revealed yellow brain tissue surrounding the abscess and a dark yellow and brittle capsule. The lesion was excised completely after aspiration and decompression. A pathological examination revealed that peripheral lymphocytes infiltrated into the surrounding blood vessels and that some areas were necrotic and accompanied by abscess (Figures ). After the operation, the patient displayed persistent fever that fluctuated around 38.5°C. A complete blood count revealed a white blood cell count of 7.2 × 109/L, 84.8% neutrophils, 8.9% lymphocytes, and CRP level of 24 mg/L. Pus culture indicated group B Streptococcus. Based on a drug sensitivity test, the patient was treated with a regimen of 1 g vancomycin q12h for 3 weeks, after which her body temperature returned to normal, and therapy was continued for an additional 2 weeks. Head CT revealed that the left space-occupying lesion disappeared; large patches or stripes of low-density shadows with blurred boundary were present in the surrounding areas; the surrounding brain tissue displayed swelling; and the midline structures remained in the middle (Figure ). However, the patient remained unconscious and was therefore provided with rehabilitation therapy including hyperbaric oxygen treatment for 6 weeks, after which she gradually gained consciousness. Physical examination upon discharge revealed a normal body temperature, high level of consciousness, babbling, level 1 right limb muscle strength, and normal left limb muscle strength.
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pmc-6339927-1
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A 4-year old Caucasian female child was referred to our Center for diagnostic assessment of severe neutropenia lasting for 6 months that was not responsive to the administration of granulocyte-colony stimulating factor (G-CSF) up to a maximum dose of 20 mcg/kg daily.
The patient was born after a full-term gestation, from non-consanguineous parents. The birth weight was 3,600 g. Familial medical history was unremarkable. Parents reported recurrent infections of upper respiratory tract and stomatitis during the first years of life, before the occurrence of severe neutropenia.
Physical examination was normal, except for the presence of splenomegaly (long axis 11.5 cm at ultrasound scan), whereas blood count revealed profound neutropenia (absolute neutrophil count, ANC, 0.02 × 109/L) without anemia and thrombocytopenia. Bone marrow examination showed the presence of rare myeloid precursors with normal representation of the erythroid and megakaryocyte lineages. The clonogenic study of bone marrow progenitors in vitro showed a normal growth of erythroid cells whereas the growth of myeloid cells was below the normal range: CFU-E/BFU-E 37 (normal range 27–81/2 × 104); CFU-GEMM 1 (normal range 0–10/2 × 104); CFU-GM 30 (normal range 33–100/2 × 104). Interestingly the patient bone marrow plasma markedly inhibited the growth of progenitor cells obtained from healthy voluntary bone marrow donors: CFU-E/BFU-E/(2 × 105) from 88 (controls) to 4 (controls + patient plasma), CFU-GEMM/(2 × 105) from 17 to 9. An extensive diagnostic work-up excluded other potential causes of neutropenia such as Kostmann disease, Shwachman-Diamond syndrome, Fanconi anemia and paroxysmal nocturnal hemoglobinuria. Finally, a misdiagnosed form of autoimmune neutropenia was hypothesized. Indeed, anti-neutrophil IgG were 171.1 mg/dL (normal value < 33.5 mg/dL), IgM were 24.9 mg/dL (normal value < 32.2 mg/dL). Hence, the patient underwent a 4-week trial with prednisone at 2.5 mg/kg/day that led to complete remission of neutropenia (ANC 3.360 × 109/L). Prednisone was slowly tapered. Nevertheless, fever occurred at every attempt of reducing the dose of prednisone below 1 mg/kg/day. Given the significant side effects after 3 months of steroid therapy, introduction of steroid-sparing agents (cyclosporine first and mycophenolate mofetil later) was attempted. However, neutropenia did not improve and the patient remained steroid dependent.
After 4 months, she experienced a single episode of livedo reticularis at the lower limbs. The histological examination showed a livedoid thrombotic vasculopathy. Moreover, the patient was hospitalized eight times due to episodes of fever, abdominal pain and neutropenia with elevated inflammation markers. Abdominal CT scan, esophagogastroduodenoscopy (EGDS) and colonoscopy showed no abnormalities, as well as gastrointestinal biopsies.
The patient was assessed also for ALPS (Table ) () because of autoimmune neutropenia and splenomegaly: she displayed increased double negative T-lymphocytes in the peripheral blood (2.5%, normal value <1.7% of total lymphocytes), IL-18 (1.125 pg/ml, normal value 36–258 pg/ml), IL-10 (7.2 pg/ml, normal value < 1 pg/ml). However, vitamin B12 levels where only mildly elevated as compared to patients with classical ALPS (775 pg/mL, normal value 191–663) (); similarly, FAS-induced apoptosis test was normal (survivor T-lymphocytes after FAS antigenic stimulation 42%) (). Sirolimus was started (, ) and withdrawn after 2 months, due to the occurrence of fever and abdominal pain. Prednisone was continued alone. No mutations were found in ALPS-disease causative genes (FAS, FASL, CAS10). The control of clonogenic tests 7 months after starting immunosuppression showed a good growth of CFU-E/BFU-E (120/2 × 104) and CFU-GEMM (52/2 × 104); the growth of bone marrow progenitor cells derived from healthy donors was no more inhibited by the patient's bone marrow plasma.
Considering the persistence of neutropenia despite the administration of G-CSF and immunosuppressive therapy, the patient was candidate to allogeneic HSCT. During pre-transplant workup, brain magnetic resonance (MRI) revealed a 5-mm signal alteration in the right cortical-subcortical frontal basal region consistent with a petechial spot.
HSCT was performed at 5 years and 4 months of age. The patient underwent a myeloablative conditioning with busulfan, thiotepa, fludarabine and rituximab (Table ). Graft-vs.-host disease (GVHD) prophylaxis consisted of anti-thymocite globulin, short methotrexate, cyclosporine (from day 0 to day +28) than replaced by tacrolimus (from day +29). Neutrophil engraftment occurred on day +26, and platelet engraftment occurred on day +34. Complete donor chimerism was detected on day +33. Main complications after HSCT were gut and skin grade II acute GVHD requiring additional therapy with prednisone at 2 mg/kg/day, tapered slowly due to frequent relapses. Further complications were: CMV reactivation (on day + 31) treated successfully with valganciclovir and osteonecrosis of the knees (on day + 138), treated with vitamin D, calcium, bisphosphonates, physio-kinesiotherapy and hyperbaric oxygen therapy.
Considering the atypical clinical evolution, the inadequate response to therapy and the absence of mutations, the diagnosis of ALPS was questioned. We performed molecular analysis by Haloplex target system platform (Illumina) on the patient's buccal swab obtained after HSCT. The patient resulted compound heterozygous for two novel mutations in ADA2 gene. The variant located at exon 9 determines an amino acidic substitution (c.1367 A>G, p.Y456C) and the variant located in exon 8 introduces a premature stop codon causing the synthesis of a truncated protein (c.1196. G>A, p.W399*). Both parents were healthy heterozygous carriers. These new mutations are reported as detrimental for the protein according to different prediction tools (e.g., PROVEAN, PolyPhen).
The high-resolution crystal structure of the homodimeric wild type protein was previously determined (PDB ID 3LGD, corresponding to UniProt Q9NZK5 amino acid residues 29-510, Zavialov et al.,). To address the effects of the two mutations, we performed a structural and energetic analysis of the enzyme. The p.Y456C mutation affects a hydrophobic pocket of ADA2 (Figure ). Of note, this is a novel mutation but the p.Y453C mutation, which affects the same hydrophobic pocket, is one of the most common found in patients with DADA2 (). The p.Y456C mutation carried by our patient heavily destabilizes the ADA2 structure (ΔΔ G = 4.53 ± 0.12 kcal/mol from n = 5 independent simulations) as calculated using the program FoldX (). The p.W399* mutation instead leads to a truncation of the protein C-terminus, removing key residues required for the correct folding of the active site, and resulting in a solvent-exposed catalytic Zn2+ ion (Figure ). Thus, both mutations are predicted to dramatically reduce the enzymatic activity of ADA2 through structural destabilization of the protein.
Pre-HSCT plasma of the patient was not available but we could assess ADA2 activity in the parents, which resulted lower than healthy controls as expected in carriers, supporting the deleterious effect of the mutations on the protein function. Moreover, patient's ADA2 plasma activity after HSCT was normal, in the absence of clinical manifestations of the disease and in the presence of full donor chimerism (Table ). These results strongly suggest DADA2 as cause of the hematological manifestations of the patient.
The patient gradually recovered from HSCT complications and immunosuppressive therapy was withdrawn. She is now alive and well 28 months after HSCT enjoying a normal life.
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pmc-6340172-1
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A 59-year-old Turkish man presented with fatigue, loss of energy, and dark colored urine. When asked, he declared that hyperpigmentation occurred in his hands and face after exposure to sun since last year and sometimes those skin parts blistered and healed leaving a scar. He used to consume alcohol socially but since last year started to take alcohol on a daily basis. His medical history and family history were both unremarkable. He was a butcher and he consumed over 300 gr of meat on most days. He declared that his complaints exaggerated after consuming large amounts of meat.
A physical examination showed that both dorsal regions of his hands had brown pigmented skin lesions. A full skin examination revealed: erosions; scars; and 1-mm, firm, white papules consistent with milieu on the dorsal surface of his hands (Fig. ). The skin color of his face was also dark and he declared that it happened 6 months ago. His body mass index (BMI) was 38 kg/m2. His pathological laboratory results were as follows: aspartate aminotransferase (AST) 125 U/L (normal 0–50), alanine aminotransferase (ALT) 89 U/L (normal 0–50), gamma-glutamyltransferase (GGT) 1190 U/L (normal 0–55), lactate dehydrogenase (LDH) 268 (normal 0–248), creatine kinase (CK) 174 U/L (normal 0–171), alkaline phosphatase (ALP) 123 U/L (normal 30–120), ferritin 503 ng/ml (normal 23–336), and vitamin B12 1275 pg/mL (normal 145–914). Hepatitis C, hepatitis B, and HIV tests were negative. Autoimmune screening was negative. Urine color was turbid.
His porphyrin (24-hour urine) was 832 μg/24 hours (normal ≤ 100); his porphobilinogen (24-hour urine) was 1.65 mg/24 hours (normal ≤ 1.65). We could not fractionate the urine porphyrins because we do not have the necessary equipment to measure carboxylate porphyrins (uroporphyrin and hepta-, hexa-, and pentacarboxyl porphyrin) in our hospital.
Our patient was diagnosed as having PCT according to his medical history, typical skin lesions, and supportive laboratory findings. Phlebotomy was started as treatment regimen (450 cc/every 2 weeks). After the sixth phlebotomy, his symptoms regressed and he declared that he felt better. His laboratory analysis also showed improvement (AST 30 U/L, ALT 38 U/L, and ferritin 43 ng/ml. A follow-up was started and an appointment to see him in 3 months was made.
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pmc-6340176-1
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A Chinese boy with a medical history of eczema and obesity presented with two episodes of anasarca and hypovolemic shock.
When the patient was six years old, he had coryzal symptoms for two days and a one-day history of vomiting, diarrhoea and generalised abdominal pain. His blood pressure was 85/66 mmHg and heart rate was 144 beats per minute (bpm) upon presentation at another local hospital. This progressed to hypovolaemic shock requiring admission to the paediatric intensive care unit for fluid resuscitation. Laboratory investigation showed haemoconcentration, hypoalbuminemia and renal impairment with metabolic acidosis (Fig. ). Echocardiogram revealed a thickened left ventricle. Blood culture yielded coagulase-negative Staphylococci, which was deemed a skin contaminant. He was treated with fluid resuscitation and a seven-day empiric course of ceftriaxone. The patient’s renal function normalised after fluid replacement and he was discharged after one week. An echocardiogram was repeated a month later, which showed normal ventricular wall thickness, structure and function.
The patient was well afterwards until he was eight years old. He presented with vomiting, diarrhoea, abdominal pain and a low-grade fever for one day. Again, he was admitted to another local hospital. The child became lethargic, hypotensive (76/52 mmHg), tachycardic (141 bpm), with physical signs of poor perfusion. Within 8 h of admission, a total of 3500 ml (70 mL/kg) of normal saline boluses were given but there were only transient periods of improvement and the blood pressure remained low overall. Laboratory investigation again showed haemoconcentration, hypoalbuminemia, impaired renal function and metabolic acidosis (Fig. ). Echocardiogram from the referring hospital showed a thickened left ventricle; the interventricular septum was 11.9 mm (Z-score + 13.34) and free wall was 14.2 mm (Z-score + 16.22).
His blood pressure remained unstable despite additional boluses of 3500 ml (70 mL/kg) of normal saline in total over the next 12 h. Multiple inotropic medications including dopamine, dobutamine, noradrenaline and stress dose hydrocortisone were started. He was transferred to our hospital, a tertiary referral centre, for consideration of ECMO within 24 h of admission.
During the transfer, he was given a total of 11 intravenous boluses (total 21 mL) of 0.1 mg/mL adrenaline due to persistent shock. He developed pulseless electrical activities shortly after arrival to our cardiac intensive care unit and recovered after two minutes of cardiopulmonary resuscitation. Upon return of spontaneous circulation, his blood pressure was 44/37 mmHg and his heart rate was 185 bpm. Post-resuscitation echocardiogram showed poor systolic function of both ventricles with the left ventricular internal dimension at end-diastole (LVIDd) of 18.3 mm (z-score − 8.65); the intraventricular septum at end-diastole (IVSd) was 18.3 mm (z-score + 4.61); left ventricular posterior wall at end-diastole (LVPWd) was 13.4 mm (z-score + 3.95); left ventricle fractional shortening (LVFS) was 18.3%; tricuspid annular plane systolic excursion (TAPSE) was 14.3 mm (z-score − 3.60) and the left ventricular mass index was 70 g/m2 (Fig. a).
Emergency central veno-arterial ECMO was immediately initiated via cannulation of the right atrium and ascending aorta, and another 5200 ml (100 mL/kg) of fluid and blood products were given over the first 12 h after ECMO was started to maintain his intravascular volume. An optimal ECMO flow was achieved at 3 L/min with a cardiac index of 2.2 L/min/m2 afterwards. His nasopharynx aspirate was positive for parainfluenza virus type 2 and stool culture was positive for Salmonella group B. Blood culture and urine culture were negative and there was no detectable urinary protein. The patient had a mildly low immunoglobulin (Ig) G level of 687 (724–1380) mg/dL, but normal IgA and IgM. Protein electrophoresis and urine immunofixation showed no monoclonal antibody peak.
The patient was very oedematous and developed compartment syndrome involving both lower limbs that required emergency fasciotomy. He also developed rhabdomyolysis with deranged renal function and pulmonary oedema 24 h after ECMO was initiated. Echocardiogram repeated 12 h after ECMO insertion showed reduced thickening of his left ventricular wall. The patient’s cardiac function, renal function and perfusion subsequently improved. Inotropic and ECMO support was weaned off three days after initiation. Echocardiogram four days after termination of ECMO support showed improvement of the left ventricular dimension and wall thickness and cardiac function: LVIDd was 33.4 mm (z-score − 2.63); IVSd was 6.95 mm (z-score 0.09); LVPWd was 6.62 mm (z-score 0.28); LVFS was 32.6% and the left ventricular mass was 39 g/m2 (Fig. b).
As the patient’s clinical and laboratory findings were all suggestive of ISCLS after discussion with an immunologist, montelukast 5 mg daily was started as prophylactic treatment at three weeks, and he received his first monthly immunoglobulin infusion (1 g/kg) prophylaxis two months after the initial presentation. At his subsequent follow-up appointment, he still had residual peroneal neuropathy. Echocardiogram 11 weeks later showed normal left ventricular wall thickness and a full recovery of his biventricular function. He has remained asymptomatic so far for more than 12 months at his most recent clinic follow-up.
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pmc-6340199-1
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Male 11-year and 10-month-old patient, presented with horizontal facial pattern and straight profile, bilateral Class II malocclusion with maxillary incisors lingually tipped towards the left. This resulted in lack of space for maxillary canines, especially on the left side. Shortened mesiodistal width of lateral incisors, especially on the right side. Mandibular incisors were also lingually tipped and extruded, with mild crowding. The patient also presented with deep bite and deep lower curve of Spee.
Treatment planning included opening spaces for canines and correcting upper midline deviation with proclination of maxillary incisors. Class II was corrected with a Class II-correction intraoral fixed appliance. Esthetic restorations were performed on maxillary lateral incisors in order to have mesiodistal width adjusted.
The greatest concern was controlling orthodontic treatment time, with a view to minimizing issues resulting from low hygiene compliance. To this end, low-friction mechanics was used to enhance treatment initial phases, in addition to a Class II-correction fixed appliance. Some occlusal details could have been improved; however, the aim was not to extend treatment time and have appliances debonded after 18 months. This is because esthetic and functional outcomes were considered satisfactory.
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pmc-6340199-2
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Female 26-year-old patient, whose chief complaint was maxillary incisors protrusion and upper midline deviation to the right due to unilateral right maxillary premolar extraction recommended by her previous orthodontist. The patient present with Class II molar relationship on the left side and Class I molar relationship on the right side.
The patient was willing to use orthodontic appliances for nine months only, due to personal reasons. Once treatment planning had been approved and other possibilities had been presented, final planning included upper midline deviation correction and maxillary incisors protrusion improvement.
Interproximal stripping was performed on mandibular premolars to allow for some mandibular incisors retraction. It was also performed on maxillary premolars on the left side, to correct upper midline deviation. Miniscrews were used on the left side to allow for more effective movement. Treatment time remained within the initial 9-month expectation. To have buccolingual incisors tipping stabilized, esthetic aligners were used as retainers.
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pmc-6340373-1
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A 28-year-old man presented with a history of right pyelolithotomy 15 years ago for a staghorn stone and an indwelling Double-J stent at 2002. The child and his parents did not follow up, despite being made aware of the Double-J stent removal. He presented 15 years later with a history of lower abdominal pain, dysuria, frequency, and intermittent hematuria for the past 3 months' duration.
For the past 3 years, the patient kept complaining of intermittent short episodes of burning micturition and lower abdominal pain, which were resolved with simple medications after visiting a local medical clinic in the rural area.
On examination, he was a healthy young man, his vital was stable, his abdomen was soft and not tender, there was a scar of a previous right pyelolithotomy, and all other systemic examinations were normal.
The complete blood count, renal function tests, and serum electrolytes were normal. The urine examinations revealed 10–15 pus cells with 20–30 RBCs, whereas the urine culture was negative of growth.
A kidney, ureter, and bladder radiograph (KUB) () and CT scan () showed the broken distal coil of the Double-J stent inside the urinary bladder with a 2 × 2 cm vesical stone with an encrusted Double-J stent along the entire length, and multiple stones in the right kidney.
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pmc-6340374-1
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A 62-year-old Caucasian man presented with complaints of a renal colic. The patient was positive for a history of noninsulin-dependent diabetes and hypertension. History of fever, hematuria and dysuria, and loss of weight were absent. Clinical examination of the abdomen was within normal limits. Complete laboratory evaluation, including urinalysis, complete blood picture, urea, creatinine, and electrolytes, showed a mild renal insufficiency (creatinine 2.1 mg/dL, glomerular filtration rate 72 mL/(min ·1.73 m2)).
A direct abdomen CT scan () showed an 8 mm ureteral stone with suspected retrocaval course of right proximal ureter with no hydronephrosis. After receiving the informed consent, ureteroscopy was performed on the patient's right proximal ureter.
After spinal anesthesia, a semirigid ureteroscopy after a right retrograde pyelography was performed (). The instrument was inserted just below the ureteral curve and a guidewire was placed (0.9 mm sensor guidewire) under fluoroscopic control in the right pelvis. Then the instrument was replaced with a flexible one (URF-P6; Olympus®) and without a ureteral sheath, to avoid an accidental perforation of the ureter at the retrocaval curve, a ureteroscopy was performed. The stone during the previous maneuvers was pushed up in the kidney. The stone was easily found in an inferior calix () and taken off with a Zero Tip nitinol basket without intrarenal lithotripsy.
No complications occurred intraoperatively and postoperatively. After 3 months patient was asymptomatic and direct abdomen CT scan showed normal kidney without hydronephrosis.
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pmc-6340375-1
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A 48-year-old Caucasian woman presented in the outpatient department with a 1-week history of pain, redness, and swelling in the left abdominal and lumbar area after an SWL treatment for her left renal stones 10 days before her presentation. Urine culture before SWL was sterile. Clinical examination on arrival showed rising swelling and redness extending from left lumbar to left abdominal area (). The patient was hemodynamically stable and afebrile. She reported two pyelolithotomies in each kidney during her adolescence. Her full blood count, urea, and creatinine values were unremarkable. Her C-reactive protein levels were elevated at 40.90 mg/L. Urinary culture received on arrival was sterile, probably because of a 7-day course of ciprofloxacin after SWL. The CT scan of the abdomen with intravenous contrast revealed hydronephrosis and multiple stones in the left renal pelvis, as well as fluid attenuation of ∼30 HU-suggesting of pus within the left perirenal and pararenal area; the psoas muscle was also infiltrated and the collection extended toward the skin ( and ).
Piperacillin/tazobactam and clindamycin were immediately administered and the patient was taken to the operating room. She was placed in the Galdakao-modified supine Valdivia position and a 7F/28 cm Double-J (D-J) stent was inserted. A 5 cm incision was afterward made on the swelling of the left lumbar area and 400 mL of pus was drained from the subcutaneous, retroperitoneal, and psoas muscle area. Two drains were placed in the perirenal space. The culture of pus was sterile. The drains were removed on the fourth postoperative day and the patient remained afebrile. On the fifth postoperative day she developed fever, tachycardia, and leukocytosis (white blood cells 22,500). A new CT scan was performed, which showed significant reduction of the perirenal accumulation, with remaining pus in the renal calyces (). Despite the presence of D-J stent, a nephrostomy tube was additionally inserted, which did not produce enough pus. The patient remained septic during the following day (Tmax = 38.5°C) and an urgent open nephrectomy was performed. Imipenem was then administered. Second pus culture from the renal cavities yielded no pathogens. She had a rapid clinical and laboratory recovery and she was discharged on the sixth postoperative day after nephrectomy. The overall hospitalization period was 12 days. Histopathology revealed necrotic inflammation with abscess in both renal pelvis and parenchyma, multiple histiocytes and ulceration of the epithelium of the pelvis, pelvis rupture and lower pole parenchyma deficit, probably because of the shockwaves.
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pmc-6340410-1
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A 64-year-old woman with a complex past medical history presented to the emergency department via ambulance after being found poorly responsive by her husband. Her husband stated that when he attempted to wake her up from a nap earlier that day, she was less responsive than usual and complained that she was unable to move her lower extremities due to stiffness. Upon questioning the patient, she admitted to shortness of breath and muscle stiffness but denied nausea, vomiting, diarrhea, headache, abdominal pain, chest pain, or a cough. She denied any recent falls or injuries.
The patient had a past medical history of anxiety, depression, hypertension, hyperlipidemia, neuropathy, fibromyalgia, stage 3 chronic kidney disease, chronic pain syndrome, and pseudotumor cerebri status post-ventricular atrial shunt. She denied any history of stroke or myocardial infarction. Home medications included 0.5 milligrams (mg) of clonazepam once daily, 100 mg lamotrigine once daily, 600 mg gabapentin twice daily, oxycodone 10 mg once daily pen, 20 mg citalopram twice daily, and paroxetine 25 mg controlled release in the morning and 12.5 mg at bedtime. The patient denied any alcohol, tobacco, or illicit drug use.
Upon presentation to the emergency department, the patient had a temperature of 101.1 ºF, heart rate of 107 beats per minute, 27 respirations per minute, and a blood pressure of 171/73 mmHg. A cardiovascular exam revealed regular rhythm with a systolic murmur grade III/VI, no edema, and palpable peripheral pulses. Lungs were clear to auscultation bilaterally, and the chest was non-tender. Abdominal exam revealed a soft, non-tender abdomen with normal bowel sounds and no masses. An electrocardiogram (EKG) revealed left ventricular hypertrophy, left anterior fascicular block, and sinus tachycardia with no other changes since previous EKG (Figure ). Her lactic acid level was 5.0 mmol/L, and her influenza screen was negative. Her urinalysis was normal, and a chest radiograph revealed a right lower lobe infiltrate. The patient was then admitted to the hospital for a further work-up.
Until aspiration pneumonia could be ruled out, the patient was placed on a nothing-by-mouth (NPO) diet and was given intravenous (IV) antibiotics and fluids. Her home opioid medications were discontinued, with the exception of morphine as needed. A comprehensive neurological exam revealed disorientation and difficulties in attention, as well as hypertonia and hyperreflexia in the lower extremities with clonus bilaterally. A cranial computed tomography (CT) image showed an unchanged ventricular shunt and no acute process. Additionally, an electroencephalogram revealed generalized slowing and triphasic waves typically observed in neurodegenerative diseases or encephalopathy.
Despite adequate hydration, antibiotic use, and decreased administration of opioid medications, there were little improvements in her vitals or mental status. After a day in the hospital, her sodium level rose to 155 millimoles per liter and her creatine kinase level increased to 455 units per liter. She continued to have an alternating psychomotor agitation, lethargy, confusion, restlessness, stiffness, hyperreflexia, tachycardia, and uncontrolled hypertension.
The patient had been prescribed serotonergic and opioid medications for several years, but after the patient’s husband arrived, he was able to share a more extensive history and inform the care team that her psychiatrist had recently made significant changes to her drug regimen to address her increasing depression symptoms. According to the patient’s husband, a week prior to admission, the dosage of her SSRI, paroxetine, started to be tapered down, while the dosage of another SSRI, citalopram, was simultaneously being increased. Both medications were being prescribed concomitantly at high doses. Additionally, about one week prior to the hospital admission, her pain management specialist had discontinued her buprenorphine patch and started her on morphine. After learning about these recent medication changes, her care team discontinued her citalopram and paroxetine. Benzodiazepines were then prescribed for agitation.
Over the next 24-48 hours, the patient showed marked improvement in her mental status. The patient was noted to be more alert and oriented, conversing appropriately, with no agitation observed by her fifth day in the hospital. Her temperature, heart rate, blood pressure, and electrolytes simultaneously normalized. Education regarding the use of SSRIs, as well as other treatment options for depression and pain, were provided by the psychiatrist and medicine physician. After a few more days of monitoring, the patient was discharged to her home under her husband’s supervision with plans to begin psychotherapy, physical therapy, and occupational therapy.
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pmc-6340412-1
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A 40-year-old woman presented with an itching mass that was found three weeks ago on the head. In her history, she was operated because of renal cell carcinoma (T2, N0, M0) 14 months before. There was no other known disease, and she had no problem in the routine follow-up. On physical examination, we found a smooth, red-colored, well-defined mass, 0.5 cm in diameter on the occipital region of the scalp. Local excision was decided because of a newly emerging lesion and discomfort to the patient. We excised the mass with a large surgical margin under local anesthesia. The lesion was diagnosed as clear cell carcinoma in the pathological examination (Figure ) and evaluated as renal cancer metastasis. The tumor existed with 4 mm surgical margin. Immunohistochemically, the lesion was positive for CD10 (Figure ), vimentin (Figure ), and negative for S100 (Figure ) renal cell carcinoma dye (Figure ), pan-cytokeratin (Figure ); CD34, CEA, HBM45. No metastasis was detected elsewhere on the patient's scans. In the first year after the metastasectomy, the patient is followed without any problems.
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pmc-6340926-1
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Thirty-year-old Hispanic female with past medical history of T2D, hypertension, and Roux-en-Y (RYGB) gastric bypass presented to an academic urban medical center emergency room with nausea and abdominal pain and was found to have DKA.
The patient was diagnosed with T2D at age 15, while being hospitalized for an unrelated matter. Notably, at the time of diagnosis, she had obesity with a BMI of 56.4 kilograms per square meter (kg/m2). Insulin therapy was initiated at this time. The patient retrospectively reported being non-compliant with the insulin regimen since diagnosis and never developed DKA prior to this hospital admission. The struggle with diabetes was common in her family as her mother and two sisters are reported to have T2D.
The patient underwent laparoscopic RYGB gastric bypass 4 months prior to DKA presentation. Prior to RYGB, the patient was on Glargine 30 units per day, Lispro 15 units before meals, metformin 1,000 mg twice daily and empagliflozin 10 mg per day. Hemoglobin A1c was 9.9% 1 month prior to bariatric surgery. Patient was placed on an insulin drip intraoperatively and on post-operative day 0, insulin drip which was turned off when point of care glucose was 188 mg/dL. She was transitioned to Glargine 16 units per day and low dose insulin sliding scale that consisted of 1 unit of Lispro with meals for every 50 mg/dL glucose above 150 mg/dL. Nutritional insulin was held because the patient was on a clear liquid diet. On post-operative day 2, she was transitioned to high protein full liquid meals. The patient was discharged from the hospital on Glargine 10 units per day and metformin 1,000 mg twice a day. Empagliflozin was discontinued post operatively.
Two weeks after laparoscopic gastric bypass, the patient was seen in the bariatric clinic. She was tolerating the high protein full liquid diet without difficulty. She was taking Glargine 10 units once a day as prescribed and fasting blood glucose values were ranging from 80 to 125 mg/dL. At the time of her clinic visit, her diet was advanced to soft and moist proteins. The patient did not follow up at her scheduled 6-week post-operative appointment. Two months later, she presented to the emergency room with DKA.
At the emergency room, she reported 8 days of fevers, nausea, vomiting, poor oral intake, cough, and dizziness. She had stopped taking Glargine ~2 months prior to DKA presentation due to decreased oral intake and fear of hypoglycemia, although no hypoglycemia was recorded. She noted polyuria and polydipsia for some time. However, as her glucometer had broken, she had not obtained any blood glucose values. Otherwise, she had felt well until 8 days prior to presentation to emergency room. During that time, she reported a fever up to 105°F, and there were sick contacts in her house including small children with upper respiratory infection. The patient also noted difficulty tolerating solid foods. As a result, she was primarily eating protein shakes and liquids.
Initial labs were significant for hyperglycemia with blood glucose of 504 mg/dL, creatinine of 1.4 mg/dL, bicarbonate of 6 mmol/L, anion gap of 23 mEq/L, pH of 7.09, and urine ketones 2+ (Table ). Her hemoglobin A1c was 9.2% at time of admission. Her Urinalysis and urine culture were not positive, comprehensive respiratory panel was not significant and Chest Xray at time of admission did not find any significant findings. At time of admission she had lost 17.27 kg since bariatric surgery, placing her at 78 kg and BMI of 34.84 kg/m2. She was placed on continuous insulin infusion and fluid hydration per the DKA insulin drip protocol. After 24 hours, she was transitioned from the insulin drip to a basal- bolus insulin regimen. Ultimately, she was discharged on Glargine 20 units once a day and Lispro 6 units with meals. All KPDM patients should be discharged from initial DKA admission on insulin for safety reasons. The need for insulin can be assessed in the weeks post-discharge.
Sixteen days after discharge from the hospital, the patient was seen in the outpatient Endocrine clinic. She was doing well other than reporting a dry cough. We performed laboratory analysis which revealed concurrent blood glucose of 196 mg/dL and C-peptide of 1.36 ng/mL, glutamic acid de- carboxylase-65 antibody <5 IU/mL (anti-GAD), islet cell antibody negative, and Hemoglobin A1c of 9.3%. Zinc transporter 8 antibody was not checked.
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pmc-6341153-1
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A 4-year-old girl presented with symptomatic central hypothyroidism and short stature. Initial examination was unremarkable, including normal visual field assessment on confrontation testing.
Assessment of pituitary functioning confirmed central hypothyroidism, but also identified cortisol and growth hormone deficiency. Subsequent gadolinium-enhanced magnetic resonance imaging (MRI) of the brain identified a solid/cystic suprasellar lesion, measuring 3 × 1.9 × 2.3 cm (Fig. a). The superior, solid aspect demonstrated increased T1 signal, while high FLAIR signal and peripheral contrast enhancement were noted in the more cystic, inferior component. The optic chiasm was splayed over the lesion. The ventricular system was normal.
The patient underwent a transsphenoidal near total resection of the mass, which was identified within a thick capsule, atypical for an adamantinomatous craniopharyngioma. Opening the lesion revealed a necrotic, cream-like material which was removed internally by suction and curettage. The residual cyst wall was unable to be completely dissected from surrounding structures.
The patient recovered well post-operatively, developing only transient diabetes insipidus which resolved within days. She had no neurological deficits following resection and post-operative visual field testing was comparable to presentation. The patient subsequently commenced levothyroxine and hydrocortisone therapy, while growth hormone replacement was planned to commence once clinical and radiological stability were confirmed.
Post-operative MRI scans showed residual enhancing cyst wall but no measurable solid component (Fig. b). To date, the patient remains clinically and radiologically stable with no evidence of disease progression, 11 months following surgery.
Histopathological analysis of the lesion demonstrated stratified squamous epithelium accompanied by superficial goblet cells and ciliated cells. Underlying tissue stroma comprised loose connective tissue and blood vessels. No wet keratin was identified. The epithelial cells demonstrated physiological, membranous beta-catenin staining, thereby lacking evidence for Wnt pathway activation. Suprabasal epithelial cells stained positive for CK7 and superficial epithelial cells demonstrated strong CAM5.2 positivity. CK20 staining was negative. The morphological appearances were therefore consistent with a diagnosis of papillary craniopharyngioma (Fig. a, b). Biological re-affirmation was sought using next-generation sequencing analysis of the lesion, which confirmed a BRAF V600E mutation (BRAFc.1799T>A p. (Val600Glu)) thereby validating the histopathological diagnosis.
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pmc-6341237-1
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A 63-year-old male with a past medical history of hypertension, hyperlipidemia, and metastatic prostate adenocarcinoma to retroperitoneal lymph nodes, lung, and bone presented to the emergency room with a one-week history of a rash. The rash affected the hands, feet, back, and chest. It developed into blisters that later ruptured. The rash was especially painful in the hands and feet. He also reported red eyes and difficulty eating for the past week.
Vital signs upon presentation were as follows: temperature 36.4°C, pulse 83/min, respiratory rate 12/min, and blood pressure 121/60 mmHg. Physical examination of the patient revealed a severe rash covering less than thirty percent of the body, oral ulcers, and conjunctival redness (). Laboratory data at the time of admission is notable for leukocytosis, electrolyte imbalances, and hepatic dysfunction ().
The patient's current cancer treatment regimen included active hormonal therapy with leuprolide and active chemotherapy with docetaxel. He had received two cycles of docetaxel therapy (generic form: 75 mg/m2), with the last dose of docetaxel received two weeks prior to presentation. He was not on other medications at the time of admission.
Treatment of the patient included intravenous fluid replacement, prednisone, piperacillin/tazobactam, ondansetron, and morphine. Wound and eye care were provided. Dermatology was consulted.
Because our searches for an established association between SJS and docetaxel were in vain, we elected to obtain a punch biopsy of the lesions to establish pathological evidence of our diagnosis. The punch biopsies were obtained from the edges of lesions on the left forearm and left medial foot. Light microscopy of the hematoxylin and eosin-stained specimens were confirmatory for SJS ().
The patient clinically improved with supportive therapy and was discharged home. He was scheduled a follow-up with his oncologist to discuss other treatment options.
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pmc-6341244-1
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A 67-year-old woman presented to the hospital with complaint of burning epigastric pain over the past two months. Pain was intermittent, non-radiating, and associated with nausea and vomiting. She admitted to unintentional weight loss, approximately 30 pounds, during the past three months. She denied diarrhea, hematemesis, or melena. Significant past surgical history included bilateral silicone breast implants, exploratory laparotomy following gunshot wound with partial bowel resection, Billroth I gastrectomy following peptic ulcer disease, and partial thyroidectomy for a follicular adenoma.
On examination, she appeared pale and severely dehydrated. Vital signs were 141 beats/minute, blood pressure 143/72 mm of Hg, temperature 97.4°F (36.3°C), and respiratory rate 18 breaths/minute. Current weight was 44 kg with a body mass index of 18.3 kg/m2. A right-sided thyroid lump was palpable, firm in consistency with regular margins, and moved with swallowing. Breast implants were “rock hard” in consistency with loss of distinct margin over the lower part of the right implant. Heart and lungs were clear to auscultation. Abdomen was soft with multiple surgical scars from previous surgeries. There was mild tenderness over the epigastric region without any guarding or rigidity. There was no rebound tenderness. Stool guaiac was weakly positive. Multiple fixed hard masses were palpable over both arms and thighs, but not painful, tender, or erythematous (Figures and ). On further questioning, she described right breast implant rupture diagnosed several years previous, but did not seek any medical advice because of financial issues.
Admission blood work revealed severe hypercalcemia, Ca 18.4 mg/dL (normal: 8.6-10.2 mg/dl), and hyperphosphatemia, Phosphorus 6.8 mg/dL (normal: 2.5-4.5 mg/dl). Initial differential diagnosis for hypercalcemia included excessive antacid use, hyperparathyroidism, malignancy, and vitamin D intoxication. She denied any antacid use, but reported vitamin D 5000 U supplementation twice daily for the past five years. Parathyroid hormone was low, 13 pg/mL (normal 15-65 pg/ml); parathyroid hormone-related peptide,, was normal, <2 pmol/L (normal 0.0 – 3.4 pmol/L); serum and urine protein electrophoresis were both normal; and 25-hydroxy (OH) vitamin D was 40 ng/mL (normal 30-100 ng/mL). Esophagogastroduodenoscopy (EGD) and computed tomography (CT) of the chest and abdomen were negative for malignancy. EGD revealed moderate chronic gastritis; biopsies returned negative for Helicobacter pylori or intestinal metaplasia. Chest CT showed clear lung fields with stable bilateral pulmonary nodules, 3-5 mm, in the lower lobes. X-rays of the arms () and thighs revealed extensive soft tissue calcifications. Biopsy of the thyroid mass demonstrated benign-appearing follicular cells with abundant colloid, negative for malignancy. Abdominal CT was negative for any acute intra-abdominal pathology but showed universal calcinosis bilaterally affecting the musculature of the upper thighs. Colonoscopy demonstrated a hyperplastic polyp with evidence of melanosis coli; no malignant cells were seen.
Serum 1,25-OH vitamin D was very elevated 290.7 pg/mL (normal 19.9-79.3 pg/mL), raising the suspicion of an underlying granulomatous disease. Angiotensinogen converting enzyme was mildly elevated, 137 U/L (Normal 9-67 U/L). Tissue biopsy of soft tissue calcifications was discussed; however, the patient refused. She was managed symptomatically and discharged home. Approximately three months later, the patient was re-admitted with hypercalcemia, 17.4 mg/dL. Abdominal CT scan revealed a 7 mm right sided ureteral calculus with mild hydronephrosis. Need for tissue biopsy was re-discussed with the patient and she agreed. Biopsy of the calcified mass on the left arm demonstrated dystrophic calcifications and foreign body granulomatous reaction ().
During initial admission, the patient was managed with intravenous normal saline, subcutaneous calcitonin (4 units/kg) every 12 hours for three doses, and a dose of pamidronate (60 mg) intravenously. Despite treatment, the patient remained hypercalcemic, 12.8 mg/dL on hospital day 2. An additional dose of intravenous pamidronate (60 mg) was administered, and calcium level improved to 10.8 mg/dL. After hypercalcemia improved, the patient was discharged with consideration for low dose prednisone on an outpatient basis. However, she failed to follow-up.
On her second admission, three months later, she underwent right ureteral lithotripsy with placement of a ureteral stent, in addition to intravenous hydration, calcitonin, and bisphosphonates. After biopsy confirmed foreign body granulomatous reaction, plastic surgery was consulted for removal of breast implants and calcified granulomas. Given extensive extremity distribution of granulomas, surgical excisions were unfeasible. Removal of breast implants was considered but not done because of her financial constraints. The patient was started and maintained on prednisone 20 mg daily. Despite steroid initiation, the patient remained hypercalcemic and was readmitted after one month, a third time, with a serum calcium of 15 mg/dL.
For the past year, she has had multiple admissions with hypercalcemia and its complications (). However, after steroid initiation, her hypercalcemic events were less severe.
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pmc-6341253-1
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A 75-year-old Caucasian female with a history of hypertension and well-controlled type 2 diabetes mellitus was admitted after open reduction and internal fixation of an ankle fracture. She was treated with subcutaneous unfractionated heparin (5000 IU three times a day) for deep vein thrombosis (DVT) prophylaxis from day 1. On day 4, a DVT and pulmonary embolism (PE) workup was completed after she developed acute shortness of breath and tachycardia with hypoxemia. DVT and subocclusive saddle-shaped PE were both noted (), and she was started on a continuous heparin infusion. The following day she developed sudden onset of left-sided weakness and rightward gaze deviation concerning acute ischemic stroke. CT angiogram of the head and neck and subsequent MRI brain revealed a stroke caused by right-sided common carotid artery occlusion with thrombus extending into the external and internal carotid arteries. A tandem occlusion of inferior branch of the right middle cerebral artery was also noted on cerebral angiography (). The patient underwent successful mechanical thrombectomy of the right carotid artery bifurcation thrombus. After the endovascular procedure, thrombocytopenia (153,000/µL to 94,000/µL) was noted. Clinical suspicion was raised for HIT and PF4-H AB, and SRA tests were sent. Heparin infusion was stopped, and she was started on continuous bivalirudin infusion. Transthoracic echocardiogram with bubble study revealed a patent foramen ovale (PFO) with right to left shunting, and the etiology of stroke was presumed a paradoxical embolism. On hospital day 7, PF4-H AB (optical density (OD) < 0.103) and SRA tests resulted negative with uptrending platelet count (105,000/µL) (). Bivalirudin was subsequently stopped, and the patient was restarted on therapeutic continuous heparin infusion due to reduced suspicion of HIT as a result of the negative serological tests. From day 8, platelets started to downtrend to 36,000/µL. Clinical re-emergence of HIT was suspected, and heparin infusion was held. Repeat PF4-H AB antibody and SRA tests were sent and resulted positive. The patient was treated with bivalirudin and bridged successfully to warfarin with recovery of platelet count (205,000/µL). She suffered no further thromboembolic events and was eventually discharged to an inpatient rehabilitation facility.
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pmc-6341267-1
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A 62-year-old female was referred to our hospital for a genetic evaluation. She had suffered from recurrent syncopal episodes since her childhood. Syncope, which lasted 2 to 3 minutes, developed repeatedly while she was playing table tennis or was distressed during earthquake attacks. Initially, she was diagnosed with epilepsy and was treated by antiepilepsy drugs, which were not effective for preventing her syncope. At the age of 60, she was referred to the cardiology division for an evaluation of bradycardia. However, she refused to undergo an intensive examination and drug therapy for sick sinus syndrome with cilostazol was initiated. She had no family history of sudden death or other cardiac disease. Her physical and neurological examinations were normal. Her ECG at rest exhibited left axis deviation and QT-U prolongation (). Late potentials were negative on signal-averaging electrocardiography. Transthoracic echocardiography did not reveal any structural abnormalities. Coronary angiography and an acetylcholine stress test also could not reveal any coronary artery stenosis or coronary vasospasms. The exercise stress testing revealed polymorphic ventricular ectopy (), which progressed to polymorphic ventricular tachycardia () accompanied by syncope. She could not undergo electroencephalography or an MRI, including the head and heart, due to her claustrophobia. Based on these findings, she was diagnosed with CPVT. She was implanted with a dual chamber implantable cardioverter defibrillator prior to the prescription of a β blocker due to a previous 13 second episode of sinus arrest on the Holter ECG. Afterwards, she was started on bisoprolol and experienced no further syncopal episodes. Upon the patient's request, a genetic evaluation for CPVT was performed. Comprehensive genetic testing was initiated using the TruSight One (Agilent Technologies, Santa Clara, CA) sequencing panel, which targets 4813 genes known to be associated with clinical phenotypes. Genetic testing revealed a homozygous c.1083 G>A/p.Trp361 ∗ stop-codon variant (W361X) in the CASQ2 gene (NM_001232.3). This variant was validated by direct capillary sequencing (). The W361X variant resulted in the termination of the CASQ2 protein at the C-terminal region () and was reported as pathogenic mutation for CPVT. No other variant was detected in any of the other arrhythmia-related genes. After this homozygous mutation was identified, we further questioned the patient and discovered her parents were consanguineous (). She had two asymptomatic children aged 27 and 24. We also conducted genetic testing on them. Both her children carried a heterozygous W361X mutation, which was identical to that of the index patient. These genetic findings coincided with the autosomal recessive trait of a CASQ2 inheritance. We could not perform a genetic evaluation on the other family members.
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pmc-6341272-1
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A 33-year-old African-American man (BMI 22) presents to the emergency department of our facility with progressive dyspnea with mild exertion and bilateral lower extremity (LE) edema associated with paresthesia and pain. Four months prior, he was treated for viral perimyocarditis complicated by new onset heart failure with reduced left ventricular ejection fraction (LVEF ~ 30–35%).
He was noted to be afebrile, tachycardiac to (110 s) BPM, tachypneic (20 s) Br/min, pulse oximetry of 93% on room air, normotensive (110/70 mmHg) and oxygen saturation is 93% breathing ambient air. Cardiopulmonary exam revealed jugular venous distention, diffuse bilaterally crackles, bilateral pitting LE edema up to the knee, reduced femoral, and dorsalis pedis pulses. The rest of the exam was otherwise unremarkable. Initial laboratory findings were significant for neutrophil-predominant leukocytosis (WBC 19 × 103 mcL), elevated brain natriuretic peptide (BNP 2506 pg/mL), troponin-I 0.48 ng/mL (normal < 0.03), D-dimer 6.6 μg/mL (normal high < 0.46), erythrocyte sedimentation rate 110 mm/Hr (normal high 15), and C-reactive protein 12.7 mg/dL (normal high 0.99). Transthoracic echocardiogram showed severe global hypokinesis, moderate-to-severe systolic dysfunction, paradoxical septal motion, and multiple biventricular pedunculated mobile echodensities (about 2-3 centimeters in size) consistent with thrombi with trace pericardial effusion (). Contrast-enhanced pulmonary embolism (CTPE) study revealed right lobar pulmonary embolus and bilateral small pleural effusions (). Lower extremity computed tomography angiogram (CTA) revealed bilateral occlusion of the superficial femoral, popliteal, posterior tibial, peroneal, and anterior tibial arteries (). Patient underwent urgent embolectomy and thrombectomies, with successful restoration of adequate inflow. Contrast-enhanced cardiac MRI revealed diffuse patchy late enhancement of the epicardial layer of the myocardium and small pericardial effusion consistent with perimyocarditis (). He was managed with intravenous furosemide, heparin drip, successfully transitioned to rivaroxaban, and safely discharged to a subacute rehabilitation facility, with significant improvement noted on subsequent follow-ups.
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pmc-6341597-1
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Our patient is a Caucasian 53-year-old, otherwise healthy, man with paraplegia since his recent car crash causing multiple vertebral fractures and a D7 lesion. He was admitted at the Infectious Diseases Unit due to low grade intermittent fever, severe back pain, and high (7.5 ng/mL) procalcitonin (PCT) levels in spite of the absence of any other sign of sepsis or septic shock. Repeated blood cultures (BCs), however, all turned positive for a single infecting strain of KPC-Kp (Table ). Strains were molecularly typed as KPC II positive, with limited therapeutic options (Table ). He was treated with meropenem, tigecycline, and colistin, in accordance with local protocols for KPC-Kp (Table ). At that time, he refused any surgical management as he had been treated at another Italian center for his previous three septic episodes following insertion of fixators. In those circumstances, due to recent vertebral stabilization, he had been treated with single shot removal and replacement surgery for infected fixators, followed by early relapse of infection signs. After 18 days of treatment in our ward, the infection apparently resolved, with negative control BCs, and normal C-reactive protein (CRP) and PCT levels. He was discharged to home, with the indication to monitor infection relapse twice weekly, while starting his rehabilitation protocol. After 2 weeks, with normal PCT levels, his CRP had risen to 79 mg/L. He complained of worsening back pain. After 10 days, he was re-hospitalized on emergency due to recurrent sepsis. His BCs were again positive for KPC-Kp (Table ). Treatment was restarted with the same combination based on the available resistance profile (Table ). Treatment was again efficacious, and on the 12th day he accepted his transfer to the Neurosurgery Unit for removal of fixators (Fig. ). It was explained to him that control neuroimaging studies allowed a two-step procedure, aimed at a definitive cure of infection prior to possible reinsertion of fixators. He was given the same antibiotic treatment for residual source control after surgery for 21 days (Table ). He was once more discharged to home as neurosurgeons considered reinsertion of fixators unnecessary. After 35 days, he was readmitted with recurring sepsis. BCs revealed progression of the resistance phenotype of his KPC-Kp isolates (Table ). A rescue treatment was provided with all available, potentially useful antibiotics, including gentamycin and colistin (Table ). Clinical remission was obtained after 14 days of treatment, but septic shock recurred 6 days after treatment discontinuation. He presented with a relapse of hyperpyrexia (42 °C), hypotension, severe leukocytosis with white blood cells (WBC) 38,000, drop in platelet counts (nadir 46,000/mm3), and rapidly ensuing renal failure with creatinine nadir of 4.4 mg/dL and liver failure with alanine aminotransferase (ALT) nadir of 456 U/L.
During his last hospital stay, our patient was positive for other microbiological culture assays: susceptible Candida albicans from an epicutaneous catheter and BCs; susceptible Pseudomonas aeruginosa from urine cultures, and susceptible Staphylococcus hominis from BCs. All viral tests performed were negative: cytomegalovirus (CMV) DNA in whole blood samples; Epstein–Barr virus (EBV) DNA in whole blood samples; serum hepatitis B surface antigen (HBsAg), and hepatitis C virus (HCV) antibodies, as recommended by national and local guidelines for opt out tests before surgical interventions. Respiratory pathogens were not tested in the absence of clinical or radiological suspicion of lung involvement at any time during his clinical course. HCV antibodies and the HBsAg were assayed with chemiluminescent immunoassays; antibiotic susceptibility was assayed with Vitek® (bioMérieux). An Xpert® Carba-R (Cepheid; Sunnyvale, USA) was used for rapid detection of resistance to carbapenems. Molecular tests for EBV and CMV were performed with ELITe MGB® Kits for real-time polymerase chain reaction (PCR) kits (Turin, Italy). Altered mentation and clonal involuntary movements at upper limbs completed the presenting picture. Lactates from arterial blood rose to 4 mmol. Septic shock support was provided, including fluid resuscitation, noradrenaline, and albumin support. The best possible antibiotic rescue regimen, that is the same regimen as 20 days earlier, was established in accordance with available microbiological data (Tables and ). Meanwhile, compassionate use of avibactam/ceftazidime was requested and authorized on emergency by the local Ethical Board. A new treatment regimen was started on day 5, including avibactam/ceftazidime, meropenem, gentamycin, and tigecycline. This treatment provided rapid and stable control of sepsis, with normal inflammation indexes on day 10. The regimen was continued for 16 days. Microbiological evidence of in vitro efficacy of the combination of ceftazidime, avibactam, and meropenem was provided. Our patient was discharged on day 31 to a local rehabilitation facility, with remarkable improvements. He was finally discharged home after 56 days. His PCT, CRP, and control BCs were all negative 40 days after discharge. His last follow-up visit was on December 5, 2017, with persistently normal clinical and laboratory parameters.
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pmc-6341628-1
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An 85-year-old Japanese man was admitted to our hospital with a two-day history of fever and worsening malaise. He denied respiratory tract symptoms. The patient had a medical history of diabetes mellitus (hemoglobin A1c level, 7.0%), but no past medical history of pulmonary disease. On admission, his vital signs were recorded as follows: heart rate, 90 beats/min; blood pressure, 123/77 mmHg; room-air oxygen saturation, 94%; respiratory rate, 19 breaths/min; and body temperature, 38.2 °C. Based on the laboratory test results, the patient was diagnosed with leukocytosis (12,000 cells/μL) and showed elevated levels of C-reactive protein (18.8 mg/dL); however, his liver and renal functions were normal. A chest radiograph showed multiple small pulmonary infiltrates in both lungs. Additional chest computed tomography (CT) scan revealed multiple bilateral pulmonary nodules mainly in subpleural areas (Fig. , left panel), suggesting the diagnosis of SPE.
While searching for the primary source of infection, transthoracic echocardiography was performed multiple times (on the day of admission and 5 days after admission), and showed the absence of vegetation on the heart valves. Additionally, contrast-enhanced CT scan of the neck, chest, abdomen, and pelvis revealed neither an abscess nor suppurative thrombosis on the day of admission. After collection of the blood sample, empiric treatment with meropenem (1 g every 8 h) and vancomycin (1 g every 12 h) was initiated. On the 3rd day of hospital stay, the blood culture with a BacT/ALERT 3D system (BioMérieux, France) was found to be positive for P. micra, identified by RapID-ANA II system (Innovative Diagnostic Systems, Inc., Atlanta, Ga), a qualitative micromethod employing conventional and chromogenic substrates for the identification of anaerobic bacteria. The isolate was highly susceptible to all β-lactams, clindamycin, and carbapenems. Repeated physical assessment to detect the source of infection revealed mild tenderness on the left temple. Oral examination by a dentist showed periapical periodontitis at the root of the second left maxillary premolar. Further, contrast-enhanced facial CT scan identified an abscess in the infratemporal fossa (Fig. a), and thus puncture drainage of pus was performed on the 9th day of hospital stay (Fig. b). Following a review of susceptibility test results, we changed the antibiotics to ampicillin-sulbactam (3 g every 8 h), targeting P. micra and all possible anaerobic bacteria. Although Gram stain of the sample taken from the infratemporal fossa abscess showed positive staining for polymicrobial patterns of Gram-positive cocci and Gram-negative rod strains, only Prevotella oris (not P. micra) was isolated from culture of the abscess. The isolation same method was used for Prevotella oris and P. micra. Isolated Prevotella oris was susceptible to ampicillin-sulbactam, clindamycin, and carbapenems, but intermediately susceptible to penicillin and ampicillin. P. micra was not recovered from the infratemporal fossa abscess, probably due to the effect of ampicillin-sulbactam and difficulty in culturing anaerobic organisms.
Thus, we diagnosed this case as periodontal disease-associated SPE and infratemporal fossa abscess. Following combined treatment with ampicillin-sulbactam, tooth extraction, and puncture drainage of the infratemporal fossa abscess, the patient’s symptoms including fever and malaise gradually improved (Fig. ). Intravenous antibiotic therapy with ampicillin-sulbactam was administered for 4 weeks, followed by continued oral treatment with clindamycin for 4 weeks. We confirmed complete remission of the lung lesions by CT scan (Fig. , right panel), and there has been no recurrence of symptoms after discontinuation of antibiotics.
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pmc-6341640-1
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A 48-year-old man (birthplace and residence: Athens, Greece) with a past medical history of vitiligo, was admitted to our center (Alexandra General Hospital) due to bloating and sense of “fullness” in the right upper quadrant of his abdomen, worsening gradually during the past few weeks before his presentation. No fever or dyspnea was reported and the patient had no signs of chronic liver disease. On physical examination, palpable hepatomegaly was detected but without splenomegaly. The patient reported no symptoms of peripheral or autonomic neuropathy and the neurologic exam was unremarkable.
Liver function tests showed increased alkaline phosphatase (~ 3.5 times upper normal limit, UNL) and gamma-glutaminotransferase levels (~ 8 times UNL) while both alanine aminotransferase (ALT) and aspartate aminotransferase (AST) were only slightly increased (<2xUNL). Serum bilirubin, creatinine and albumin levels were in normal range, no prolongation of clotting time or proteinuria was observed. Following imaging tests, abdominal ultrasound showed a liver span in the mid-clavicular line of 21.5 cm, and in consistence, computed tomography (CT) showed diffuse liver enlargement and a reduction in portal vein diameter. An infiltrative liver disease was suspected.
After the baseline work-up and within the first week of patient admission, liver biopsy was performed and histologic examination revealed the presence of periodic acid-Schiff (PAS) negative amorphous eosinophilic material within normal liver tissue and portal areas. Initial Congo red staining was negative but due to high clinical suspicion for amyloidosis, a second tissue evaluation was performed and was positive for Congo red. However, immunohistochemistry was unclear, since both anti-kappa and anti-lambda as well as anti-AA staining were positive, probably due to absorption. Serum and urine immunofixation were negative and serum free light chains were normal. Cardiac biomarkers (NTproBNP and hsTnT) were within normal range. No evidence of heart involvement was found in cardiac echocardiography.
Liver tissue sample was sent for typing of amyloid to Amyloidosis Research and Treatment Center, Foundation Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo and University of Pavia, Italy. By immunoelectron microscopy performed according to the standard already published methodology [, ], the liver appeared heavily infiltrated by amyloid fibrils that reacted with anti-apoAI, while no immunoreaction was seen with other antibodies, supporting the diagnosis of AApoAI. To establish the diagnosis of hereditary AApoAI, mutation analysis of the APOA1 gene was performed. By the next generation sequencing, the proband was found to be heterozygous for a single-base substitution at position c.251 T > C, changing the codon CTG to CCG. This change resulted in a amino acid substitution, from leucine to proline in the peptidic residue 60 of the mature ApoAI.protein. Sanger sequencing was used for subsequent screening of the proband family members; his siblings (two brothers) and his mother lacked the mutation, but paternal DNA was unavailable.
The patient received no treatment and remained in 6-months follow-up. Two years later he came for his scheduled visit complaining for erectile dysfunction. No other signs or symptoms of autonomic neuropathy were present. Further testing revealed low testosterone levels with concomitant high levels of gonadotrophins, consistent with primary hypogonadism while subsequent semen analysis showed azoospermia. Scrotal ultrasound showed normal size of the testicles. Primary hypogonadism was attributed to testicular involvement, but this hypothesis could not be proven since the patient refused testicular biopsy.
The patient remains in stable very good clinical status for the past 4 years in regular follow-up visits, without evidence of deterioration of his liver or other organ function. His symptoms due to hypogonadism have resolved with testosterone-replacing therapy. The CARE guidelines were followed in reporting this case [].
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pmc-6341688-1
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A 46-year-old man was admitted to our hospital because of fatigue and fever. On admission, a complete blood count revealed the following: haemoglobin 7.9 g/dL, platelet count 21 × 109/L, and white blood cell count 0.4 × 109/L. A bone marrow sample was markedly hypocellular, containing 1.4% myeloblasts and micromegakaryocytes. He was diagnosed with myelodysplastic syndrome (MDS) on the basis of morphological features. Chromosomal examination showed 42–44, XY, − 4, − 5, del (7), − 9, − 17, − 20, + 1-3mar, inc [6/6].
The patient received allogeneic HSCT using peripheral blood from a human leukocyte antigen (HLA) 6/6 matched sibling 1 month after hospitalization, with a conditioning regimen of cyclophosphamide (120 mg/kg) and total body irradiation (12 Gy). Neutrophil engraftment was achieved 21 days after the first HSCT. However, recurrence of MDS was confirmed 91 days after HSCT.
Four months after the initial HSCT, he received a second HSCT using HLA 4/6 bidirectional mismatched single unit cord blood with a conditioning regimen of fludarabine (150 mg/m2), melphalan (80 mg/m2), and busulfan (12.8 mg/kg). GVHD prophylaxis consisted of tacrolimus and mycophenolate mofetil. He achieved neutrophil engraftment at 15 days after the second HSCT. Immunosuppressive therapy was rapidly tapered and discontinued at 3 months after the second HSCT to prevent disease recurrence.
The patient developed persistent ascites and pleural effusion 25 days after the second HSCT (Fig. ). Initially, this was thought to be due to the engraftment syndrome because he presented with persistent fever without liver and kidney dysfunction. No additional immunosuppressive treatment was administered because he had no organ dysfunctions and had a high risk of disease. His symptoms, other than ascites and pleural effusion, were improved after observation. Ten months after the second HSCT, ascites inspection was performed because ascites and pleural effusion were sustained since the symptoms appeared. Ascites involved a yellow and exudative fluid with a serum ascites albumin gradient of 0.9. The fluid contained no abnormal cells. Staining and culturing for bacteria, fungi, and mycobacteria were negative. During that time, cough and dyspnea developed, and he was diagnosed with bronchiolitis obliterans because of decreased forced expiratory volume in 1 s and no findings on lung computed tomography. He was treated with clarithromycin and inhaled steroids but without a systemic corticosteroid. His serositis was also considered to be a cGVHD-related condition. His ascites decreased gradually and disappeared at 1 year after the second HSCT without a systemic corticosteroid or other immunosuppressive agents.
Two years after the second HSCT, he presented with nausea, weight loss, and constipation. Computed tomography revealed no intestinal obstruction, but did reveal dilated, thickened, and adhered small bowel loops showing a mass-like appearance as if they had a capsule (Fig. ). Although peritoneum biopsy was not performed because of the concern about intestinal perforation (worsening symptoms), he was diagnosed with EPS on the basis of clinical findings. He received corticosteroid therapy (20 mg/body) without any improvement in symptoms. He developed recurrence of MDS at 1 month after initiation of corticosteroid therapy. This progressed into acute myeloid leukaemia after 3 months. He died 31 months after the second HSCT.
The patient’s family gave permission for an immediate autopsy of all organs to obtain a definitive diagnosis. Macroscopically, the entire intestine had adhered into a single “cocoon” with fibrotic peritoneal thickening (Fig. ). Histologically, intestinal loops were adhered to each other with intervening fibrosis, and showed signs of superficial fibrin deposition, fibroblast proliferation, and sclerotic fibrous peritoneal thickening with sparse inflammatory cell infiltration (Fig. ), confirming the most characteristic features of EPS.
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pmc-6341693-1
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This is a 26-year-old man who experienced right lower limb weakness for 2 years and the weakness exacerbated in last half year. He visited the second affiliate hospital of the Zhejiang University School of Medicine. A physical examination indicated the result of the straight leg raising test was positive and also muscle atrophy. The muscle power of the right lower limb had decreased to grade 3. There was no sensory impairment. Magnetic resonance imaging revealed an intraspinal extradural tumor over T10 to L3 (Fig. ). It appeared to be a spinal extradural arachnoid cyst (SEAC). To confirm whether the fistula existed between the subarachnoid space and arachnoid cyst, and to localize the position of the fistula, we performed a real-time technique. First, we injected contrast medium into the cyst under fluoroscopy. After 1 h the follow-up computed tomography (CT) was administered, and it revealed there was no contrast-infiltration into the subarachnoid space (Fig. ). We then extracted about 20 mL of fluid from the cyst. The follow-up magnetic resonance imaging on the same day indicated the cyst did not become smaller (Fig. ). A “one-way valve” fistula was suspected such that cerebral spinal fluid could pass into the cystic space from the subarachnoid space but could not flow in the opposite manner. Therefore we designed a procedure to localize the fistula. We penetrated two needles into the cyst and subarachnoid space separately in the L3/L4 level under digital subtraction angiography (Fig. ). Pending the fluid drained through those two needles, we injected 10 mL of contrast medium slowly into the subarachnoid space and a little contrast medium infiltrated into the cystic space horizontally at the T12/L1 level. We then administered high resolution computed tomography (HRCT) immediately to confirm the position in the axial plane. The HRCT revealed a funnel-shaped enhancement between the lower edges of the T12 body and the left nerve root, and this is the accurate position of the fistula (Fig. ).
After general anesthesia and endotracheal intubation, the patient was placed in prone position. A fluoroscopy was used to determine the correct operative level, and a longitudinal incision was made 5 cm off midline at the T12 level. Muscle was dissected layer by layer, and a spinal process and left lamina were exposed. The left lamina was partially ground by cutting burr and then removed along with ligamentum flavum by Kerrison punch. After that, the cyst was exposed. Under a microscope, the cystic wall was fenestrated and it then drained off clear cystic fluid (cerebral spinal fluid). After partial excision of the cyst and evacuation of cystic fluid, a spinal endoscope (SPINENDOS, Germany) was maneuvered into the space and the fistula was detected (Figs. , ). The fistula was detached from the arachnoid membrane and was ligated with a 7–0 Vicryl purse string suture. Regional leakage from the repaired site was noted. An anastoclip was then used to close the fistula (Fig. ). Pulmonary pressure was elevated by ventilator (valsalva maneuver) to check the leakage and there was no more leakage. Hemostatic matrix and gel [Fibrin sealant kit (human), (Shanghai RAAS Blood Products Co, Ltd., Shanghai, China)] were utilized at the local region. The postoperative diagnosis was a thoracolumbar extradural arachnoid cyst. The pathological report revealed an arachnoid cyst (Fig. ). The symptoms improved on postoperative day 2. His lower limbs regained strength with limited dorsiflexion of the right foot.
Through the 3-month outpatient department follow-up, there was no more numbness or weakness of his right lower limb. The motion of dorsiflexion also improved. The 3-month follow-up magnetic resonance imaging revealed no recurrence of the previous lesion and no spinal cord compression (Fig. ).
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pmc-6341741-1
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A 72-year-old man with dysphagia was admitted to the hospital. Gastroscopy revealed a large submucous eminence lesion, about 18–24 cm from the incisors (Fig. a). CT examination indicated a 1.8 cm × 5.2 cm × 2.9 cm soft tissue mass in the upper esophageal wall (Fig. b). Endoscopic ultrasonography findings: the lesion was hypoechoic and originated from the muscularis propria with a clear boundary (Fig. c). The patient refused invasive surgical resection and the informed consent was obtained for endoscopic submucosal excavation (ESE).
After marking and submucosal injection, an arc incision along the longitudinal direction of the esophagus was made to avoid the enlargement of the defect. Since the lesion was clinging to the esophageal adventitia, we performed full-thickness resection to achieve en bloc resection (Fig. a, b, c and f). Taking into account the difficulty of placing the gastrointestinal decompression tube, we placed the guide wire in advance. The perforation was closed with purse-string sutures using a novel LeCamp™ endoloop (Leo Medical Co., Ltd., China) (Fig. d), which was inserted into the perforation site through the biopsy channel. After adjusting the location and angle of the endoloop, it was anchored symmetrically onto the full thickness of the perforation’s margin with the clips (Fig. d). Then the removable hook was inserted and connected with the endoloop, which was tightened by slight pulling all the edges together. Subsequently the hook was removed from the endoloop and the perforation was closed (Fig. e). A 20-gauge needle was used to relieve the subcutaneous emphysema during and after the procedure. Finally, a gastroduodenal decompression tube was placed. Pathological diagnosis of the tumor was leiomyoma. The patient’s postoperative recovery was uneventful. No esophageal stricture was observed 2 months later (Fig. g).
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pmc-6342083-1
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A 68-year-old woman, no known drug allergies; with ESRD stage 5D secondary to chronic glomerulonephritis on hemodialysis in later 3 years. She had medical history of hypertension; a history of morbid obesity (body mass index [BMI]= 41.5), she underwent gastric bypass 13 years ago (current weight 56 Kg), type 2 diabetes mellitus, primary hypothyroidism, secondary hyperparathyroidism and mitral insufficiency. She was an ex-smoker, stopping smoking 18 years ago, without any known toxic habits. She suffered a pulmonary thromboembolism 22 years ago, which was treated with acenocoumarol. In addition, the patient receives treatment with sevelamer, paricalcitol, cinacalcet, epoetin alfa, levothyroxine, folic acid, antidiabetic treatment and omeprazole.
In May 2017, a painful nodule on her left posterior thigh was observed, which was diagnosed as a lipoma by ultrasound. Two months later, the patient reported a significant increase in pain and the nodule size and between 3 and 4 new nodules appeared on her left front and back thigh (). These nodules are firm, adherent and painful on palpation.
Dermatology Service was interconsulted, and a skin biopsy was performed obtaining anatomopathological findings compatible with calciphylaxis ().
On a chest and abdominal radiography showed vascular calcifications of arteries.
In view of calciphylaxis diagnosis and by ruling out other disorders that may mimic CUA, the following measures were taken:
Acenocoumarol therapy was discontinued and instead low molecular weight heparin therapy was started, still maintained today. VDRA (Vitamin D Receptor Activator -paricalcitol) was also discontinued, maintaining the rest of treatment. Metabolic acidosis was corrected, vitamin k plasma levels were determined, and dialysis bath calcium was lowered. The administration of intravenous sodium thiosulfate 12.5 g after each hemodialysis session was started simultaneously as calciphylaxis treatment.
After the skin biopsy a deep ulcer without granulation tissue (1.0 to 1.5 cm diameter) was formed, with no infection which resolved after 5 months of cures and usual follow-up satisfactorily.
Three months after diagnosis, due to an unfavorable evolution and the increase in plasma calcium levels, a bisphosphonate therapy was started (intravenous pamidronate 30 mg weekly) because of its ability to inhibit vascular calcification and its anti-inflammatory effect.
Due to poor digestive tolerance, cinacalcet was replaced by etelcalcetide at an ascending dose of 5 mg intravenously injection after each hemodialysis session due to its lower incidence of gastrointestinal effects.
Three weeks later, because of the marked decrease in the serum calcium and phosphorous concentrations, we occasionally added a treatment with paricalcitol 1.0 mcg after hemodialysis, thus controlling the elevated levels of parathyroid hormone (iPTH).
Two months after initiating treatment with etelcalcetide, the dose was increased to 10 mg after each hemodialysis session due to lack of control in iPTH levels and one month later treatment with Pamidronate was stopped due to the appearance of severe maintained hypocalcemia. (Ca = 7.5 mg / dL) ().
Finally, after 6 months of treatment, sodium thiosulfate was suspended due to favorable evolution of the wounds and pain reduction.
The patient currently continues on hemodialysis, stable, without painful lesions and with size reduction of the nodules, making it necessary to increase the dosage of etelcalcetide to 15 mg 3 times a week due to poor control and maintenance high levels of iPTH ().
Written informed consent was obtained from the patient for the publication of this case report.
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pmc-6342830-1
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The patient was a 72-year-old man, whose previous surgical history included: intestinal repair for its rupture resulting from a traffic accident at 40 years of age, cholecystectomy for choledocholithiasis at 62 years, and pancreatoduodenectomy for pancreatic neoplasms when he was 63 years old. Although these previous abdominal surgeries had provoked recurrent cholangitis, his cholangitis had been treated well and under control in those days. We subsequently considered the intervention for thoracic aortic aneurysm, and presented him with the surgical choices: aortic surgery or thoracic endovascular aortic repair (TEVAR). He chose TEVAR because of its less invasiveness, and then we proceeded with TEVAR, with right common carotid–left common carotid–left subclavian artery bypass (Fig. a). He recovered well and was discharged without any complication. One month after the TEVAR, he was readmitted with high-grade fever and diagnosed with a recurrence of cholangitis. Escherichia coli was detected in his blood culture. Computed tomography (CT) on admission did not demonstrate endograft infection (Fig. b). Although the patient was started on cefozopran (3.0 g/day), he remained febrile (38.0–38.5 °C); his white blood cell (WBC) count was 15,000–20,000/µL and C-reactive protein (CRP) level was 15–20 mg/dL for more than 7 days. Repeated CT revealed contrast enhancement around the endograft, fluid collection inside the remnant aneurysm (Fig. c-1) and a fluid cavity (roughly the size of a chicken egg) between the aortic arch and pulmonary artery (Fig. c-2). No endoleak was confirmed. We assumed that the pathogen of cholangitis spread via blood stream, which resulted in endograft infection. Endograft infection might induce endoleak, endograft migration or aortic rupture. Although his cholangitis might be on active phase, we had priority to treat endograft infection initially.
Though the endograft excision with aortic reconstruction was optimal, we considered that the patient could not tolerate invasive aortic surgery with thoracotomy. His activity of daily life (ADL) was maintained at low level; he could communicate with others properly and did not have cognitive dysfunction such as dementia. However, he needed help for eating, changing clothes, and for the use of toilet, in daily life. He could walk a little but basically was on wheel chair during daytime. He suffered from severe chronic obstructive pulmonary disease, and treated with β2 stimulator inhalation. Pulmonary functional test revealed 45% of forced expiratory volume 1 s % (FEV 1.0%) and 0.9 L of forced expiratory volume 1 s (FEV 1.0). He also had septic cholangitis, with relatively high Euroscore II of 15.6. We also considered replaced-graft reinfection due to active and smoldering cholangitis. In addition, because of his abdominal surgical history, omental coverage was not an option. Therefore, we chose a less invasive and conservative strategy; thoracoscopic drainage with endograft preservation, followed by continuous irrigation.
Using a thoracoscopic surgical system through several access ports, we made an incision on the lateral side of the distal arch aneurysm (Fig. a) and created a 5-cm-length fenestration, which extended to the sub-aortic bulging area (Fig. b). The purulent fluid, which E. coli was cultured on later, erupted from the fenestration. We performed irrigation with copious saline containing gentamycin, in addition to crystal violet for gram-positive bacteria in case of polymicrobial infection. Two outflow drains (28Fr Argyle™ thoracic catheter and 24Fr Trocar catheter, Covidien, Dublin, Ireland) were placed on the diaphragm and at the apex of the left lung. Two inflow drains (10Fr BLAKE® Silicone Drains, Ethicon, Newark, USA) (10Fr Nelaton catheter, Terumo, Tokyo, Japan) were placed lying on the fenestration (Fig. c).
The irrigation–drainage system was constructed postoperatively. Gentamycin, which is effective in gram-negative rod infection, was empirically diluted in 1000–2000 mL normal saline/day, and did not exceed the intravenous maximum dose (240 mg/day). By postoperative day (POD) 30, the abscesses had diminished upon CT imaging (Fig. d). His WBC count was normalized and CRP level stayed less than 0.03 mg/dL. E. coli was not cultured in the drainage fluid and blood, therefore we removed the inflow and outflow chest tubes on POD 32. After confirmation of no recurrent infection following drain removal, we decided to alter an intravenous cefozopran to oral amoxicillin (1.0 g/day) on POD 34. He recovered well and discharged on POD 92 via a rehabilitation hospital. In case of the next step as radical treatment such as total aortic arch replacement, we closely monitored his cholangitis and enhanced his ADL with rehabilitation. Oral amoxicillin was finished on POD 180 with a normal range of WBC count and CRP level. At current follow-up, he is now 28 months after drainage with no sign of recurrent infection including endograft infection and cholangitis (Fig. e).
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pmc-6342868-1
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The patient, a 17-year-old girl, born from healthy consanguineous Italian parents, was delivered at full term. Pregnancy was uneventful and psychomotor development was normal.
At age 11 years a first sleep-related tonic-clonic seizure, lasting several minutes appeared. A first EEG recording showed discharges of generalized spikes and polyspike-waves together with multifocal, centro-parieto-temporal paroxysmal activity. Brain MRI was unrevealing. Treated with valproic acid and clobazam, she was seizure-free for nearly 2 years. At age 13-years, seizures relapsed and over time became drug-resistant despite different antiepileptic drug combinations, including ethosuximide, lamotrigine, benzodiazepines, acetazolamide, levetiracetam, topiramate, lacosamide and barbiturates. Seizures occurred 2–3 times per month, predominantly during sleep, as tonic-clonic, lasting several minutes and occasionally requiring acute treatment with rectal diazepam. In the same period, parents also noticed daily episodes of loss of contact and interruption of motor activity with a slight head drop and eyelid fluttering, lasting 10–20 s. Long-term video-EEG monitoring captured sleep-related seizures, with the tonic-clonic phase being preceded by a crescendo of myoclonic and clonic jerks (Fig. ). We also recorded several episodes of ictal eyelid myoclonia with absences associated with polyspike and wave discharges. The interictal EEG was severely abnormal with frequent discharges of generalized or multifocal paroxysmal activity, yet the most interesting features were observed during sleep with activation of severe paroxysmal discharges and absence of a recognizable physiological EEG pattern. EEG also showed a prominent photosensitivity. During intermittent photic stimulation, we recorded a generalized photoparoxysmal response often provoking eyelid myoclonia.
After the onset of seizure, she also manifested cognitive regression, leading to mild-moderate cognitive impairment. Haemoglobin levels and white blood cell values were normal, although at the lower end of normal limits. Trombocytopenia was not found. At age 16 years, neuropsychological testing showed a global IQ score of 65 (WISC-IV). Neurological evaluation revealed mild dysarthria, increased deep reflexes, mild dysmetria, inability to walk on toes, and upper extremity tremor and myoclonus. Somatosensory and visual evoked potentials revealed responses of abnormally high amplitude (grossly enlarged potentials).
Clinical features, particularly their onset and evolution, EEG features, and evoked potentials were suggestive of progressive myoclonus epilepsy. Abdominal ultrasound and MRI revealed also a mildly enlarged liver. The magnetic resonance (MR) imaging bone marrow burden (BMB) score was 3. Thus, considering all the above findings combined with age at symptoms onset, we investigated the patient for Lafora disease and lysosomal disorders, including GD.
At clinical evaluation spleen and liver were of normal size. At abdominal MRI the liver was at the upper limit of normal (2626 cc). There was neither anemia nor thrombocytopenia. Since, in keeping with GD, β-glucosidase activity in blood spots was deficient, we performed GBA gene screening and skin biopsy for further molecular and enzyme activity assays to confirm the diagnosis.
Once the diagnosis was confirmed the enzyme replacement therapy (ERT) was instituted. At present, the patient, aged 17 years, exhibits drug-resistant epilepsy with daily myoclonic and monthly tonic-clonic seizures, often while asleep and during her periods, prominent photosensitivity, mild-moderate cognitive impairment with dysarthria and upper limb tremor and an abnormal bone marrow burden. Haematological values and BMB were unchanged. The clinical picture is fluctuating, yet slowly progressive, and ERT is of no benefit on neurological symptoms, considering also this treatment does not pass the brain blood barrier.
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pmc-6342873-1
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A 17-year-old male involved in high school athletics middle-distance running presented with a 3-week history of pain with more training. He was running up to 300 km/week on streets and cross-country in an even distribution. Although he had taken analgesics, the pain during exercise did not improve, and he presented to our emergency department with lower leg pain (Fig. ). There was no clear abnormality on the radiographs of the tibia, but STIR magnetic resonance imaging (MRI) confirmed a high-intensity area of the distal one-third of the tibia, and the diagnosis of stress fracture and shin splint was made. The patient was instructed to suspend training, and the injury was treated conservatively with follow-up on an outpatient basis (Fig. ). Follow-up radiographs were checked at 2 and 3 months. With this treatment, the fracture healed with no complications, and he decided to return to running after 3 months. At 6 months, radiography showed thickening of the bone cortex in the back one-third of the right tibia and in the back of the distal part of the left tibia, so that he was again instructed to stop training (Fig. ). However, he discontinued coming to the outpatient clinic on his own after 6 months.
He was then seen in the emergency department, having sustained an injury to the right lower leg while running a middle-distance race, 1 year after the initial examination. He described how, when he had just started and passed through the first corner, he had felt a ‘‘snap’’ in his right calf, suddenly could not run, and fell and had to abandon the race. He said that his leg was deformed in an impossible direction. It became impossible to run because of the lower leg deformities, and he was brought to our emergency department. He was admitted to hospital, and X-ray examination showed a greatly displaced oblique fracture in the proximal 1/3 of the left lower leg, but, fortunately, there was no open wound (Fig. ). Before the race that day, the patient had not experienced any pain or discomfort in his left lower leg while running. In the emergency department, the primary assessment showed moderate direct and indirect tenderness of the opposite proximal tibia. There was no malalignment, swelling, or discoloration of the left lower leg.
The radiographs showed a full-thickness fracture of the proximal one-third posterior tibial shaft (Fig. ). On MRI, T1-weighted imaging showed a high-signal area at the middle one-third and a low-signal on T2-weighted imaging, and STIR showed an abnormal high signal at the same site (Fig. ). These findings suggested abnormalities such as edema and bleeding in the bone marrow. On bone scintigraphy, there was moderate accumulation in the vicinity of the left lower third of the thigh, so a left tibial stress fracture was diagnosed (Fig. ).
The following day, surgical treatment for the injury was performed under general anesthesia after written, informed consent was obtained from the patient and parents. In addition, the patient gave written, informed consent for publication of the case, including the accompanying images. At our institution, ethical approval is not required for reporting individual cases. Closed reduction and internal fixation of the radial shaft fracture were performed, with intramedullary nailing (10-mm-diameter, T2 Nailing system, Stryker, Kalamazoo, MI) for both the left complete tibial fracture and the right tibial stress fracture (Fig. ).
The injury was then treated conservatively, with 9 weeks in an ROM knee cast and no weight-bearing on the affected leg. Healing was monitored through a series of follow-up radiographs. With this treatment, the fracture healed with no complications. Although the patient was asymptomatic and clinical healing of the fracture was apparent 10 months after the nailing, a fracture line was still visible on radiographs (Fig. ). The patient could begin light jogging from 3 months after the operation and was without symptoms at 5 months. He returned to middle-distance racing after 1 year.
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pmc-6343149-1
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A 45-year-old female patient consulted our office with a chief complaint of left facial swelling and numbness of her chin, left lower lip, and a part of her left buccal mucosa and mandibular posterior vestibule. The patient had a history of endodontic treatment of her mandibular second left premolar (tooth 35) that was not accomplished by her restorative dentist; she also revealed that the swelling increased and reached her mid lower face, extending to the left anterior triangle of her neck, as well. She was treated by her restorative dentist with intramuscular injections of Rocephin® (ceftriaxone) during 4 weeks without remission.
Patient originally consulted for left facial swelling and paresthesia of left lower lip and chin. The left posterior mandibular vestibule, and particularly apical regions of 34 to 37, was spontaneously painful.
Intraoral examination displayed two swellings (in the left mandibular vestibule in relation to teeth 35 and 36) that were tender to palpation. On clinical examination, teeth 35 and 36 showed extreme mobility and were painful on horizontal and vertical percussion. Tooth 35 was open to access pulpal cavity, and thermal pulp test was negative on teeth 34 and 36 and positive on tooth 37.
An orthopantomogram (OPG) was taken in order to determine a possible bony pathology underneath the swollen left mandibular vestibule: OPG displayed a well-limited radiolucent image, extending from tooth 34 to tooth 37 and occupying most of the mandibular basal bone, in this sector. Periapical radiolucent lesion measured around 3-4 cm in length with around 2 cm width. It appeared unilocular, with well-defined, nonsclerotic borders, extending from mesial aspect of 34 to mesial aspect of mesial root of tooth 37, and almost reaching lower border of the mandible. Aspiration of the lesion was performed under local analgesia and it released pus and blood and a presumptive diagnosis of infected radicular cyst was made (Figures –).
Axial and coronal cuts of a cone beam computed tomography (CBCT) showed a radiolucency, ball shaped, measuring approximately 30.7 mm × 19.7 mm with discontinuity of the buccal wall, and the mandibular canal is repressed toward the basic bone of the mandible (Figures –).
Treatment plan was decided and discussed with the patient, and the agreement was to undertake root canal treatment of tooth 34 and extract teeth 35 and 36 and to perform decompression of the radiolucent lesion through their alveolar cavities, after extractions of these teeth.
Block analgesia of the left inferior alveolar nerve was implemented with block 2% articaine with 1 : 100,000 adrenaline (3M ESPE, Seefeld, Germany); teeth 35 and 36 were extracted using elevators and forceps.
An incision through alveolar processes of 35 and 36 was made with no. 15 blade and the lesion's lining was fenestrated with a scalpel's blade: two transparent plastic tubes, sectioned from the tubing of a standard saline bag, were inserted in each alveolar cavity, and two interrupted sutures, from each side of the tubes, were placed to stabilize them (Figures and ).
The patient was instructed to self-irrigate the lesion with a plastic disposable syringe with needle, with two antiseptic solutions, normal saline solution (0.9% sodium chloride in water) during the day (once every 3 hours and after each meal) and 0.12% chlorhexidine gluconate in the morning and in the evening before bedtime.
The patient was recalled every week for irrigation of the lesion and check-up. What is special in this irrigation modality is that the antiseptic solution (saline and/or chlorhexidine gluconate) was injected through one tube and drained from the other one, instantaneously. At biweekly intervals, the length of the tube was monitored and cut in order to keep it far from occlusion ().
The lesion's enucleation was planned to be implemented 6 months after decompression that would reduce its size. Indeed, 6 months after the first lesion's irrigation, a panoramic radiograph was taken in order to evaluate the bone apposition: bone formation took place within the lesion as observed on CBCT performed after 7 months, with an almost complete formation of buccal cortical and bone apposition buccally (±4 mm) and lingually (±2.4 mm) as shown on the para-axial cut and lesion volume reduction as shown on the sagittal reconstruction (±25.1 mm × 15.2 mm), all along the lesion (Figures –).
At first week of the 7th postoperative month, the decompression tubes were removed. With a blade #15, a crestal incision followed by 2 relaxing incisions was performed before raising a full-thickness flap. After separating the lesion's membrane from the flap, enucleation was accomplished with a Lucas curette and the entire pathological specimen was collected and immersed in a fixative solution (20% formol) for histopathological examination.
During operation, it was noticed that the buccal bone wall took the same shape of drainage tubes after reformation. After the lesion's enucleation, the bony cavity was filled with Puros® cortico-cancellous particulate allograft (Zimmer Biomet Dental, Carlsbad, California, USA) due to its osteoconductive properties. The flap was relocated with 5/0 nylon interrupted sutures, and tube opening locations were covered with collagen (CollaTape®) over bone graft (Figures –).
The patient consulted us again one week after the cyst enucleation with less than 20% of left lower lip/chin numbness remaining, and two weeks later, she almost recovered her normal sensation, with a mild left lower lip “heaviness” remaining (Figures and ).
Pathological report concluded that the lesion was a radicular cyst ().
Six months following bone grafting, CBCT shows a complete bone regeneration of the whole area () and two SwissPlus Zimmer® implants were placed in locations of teeth 35 and 36 and were restored with cemented prostheses 3 months after their surgical placement (Figures –).
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pmc-6343150-1
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A 35-year-old woman arrived at the emergency department because of rest dyspnea and a 6-month history of lower extremity edema. She had a 3-month history of intermittent abnormal vaginal bleeding. On initial evaluation, the patient was hypoxemic with an oxygen saturation of 80% with room air. Relevant clinical signs were tachycardia and hypotension, decreased heart sounds, and a left supraclavicular lymphadenopathy. A chest X-ray showed a widening of the cardiac silhouette with a bilateral pleural effusion ().
Pericardiocentesis was performed and a total of 500 mL of bloody secretion was drained with symptomatic improvement. Pleural fluid was obtained by thoracocentesis, and cytology was positive for a poorly differentiated carcinoma ().
An excisional biopsy of the left supraclavicular lymphadenopathy was positive for metastatic squamous cell carcinoma. The cervical biopsy reported a squamous cell carcinoma associated with an intraepithelial high-grade lesion (Figures and ). CA-125 was 335.5 IU/mL and a simple and contrasted pelvic MRI demonstrated a uterine and cervical absence of tumoral mass; however, peritoneal carcinomatosis was present.
Chemotherapy was begun with carboplatin and paclitaxel. Despite the treatment received during her hospitalization, she again presented a pericardial and pleural effusion with subsequent hemodynamic instability and respiratory failure. Due to the fact that in our center there is no experience in applying intrapericardial sclerotherapy, it was offered to repeat pericardiocentesis; however, this intervention was refused. The patient died 46 days after the initial presentation.
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pmc-6343151-1
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A 43-year-old woman without psychiatric or substance use disorder history was admitted in a thoracic surgery unit for a suicide attempt by self-stabbing. She had been treated for Grave's disease by carbimazole for six years. Almost four months before the suicide attempt, she received radioiodine therapy. Because of a misunderstanding, carbimazole was not switched by the patient for levothyroxine but had been continued until one week before admission. She presented three self-inflicted knife wounds, causing a hemopneumothorax and a pulmonary contusion. The initial clinical evaluation reported a significant exophthalmos, a cutaneous myxedema, and a hoarse voice. She had a normal-size thyroid gland without nodule. A consultation-liaison psychiatrist's evaluation was requested on day one, before chest drainage under general anesthesia.
The first evaluations showed that the patient was disoriented with incoherent speech and intermittent agitation, compatible with mild delirium. She did not express suicidal ideation and did not remember stabbing herself. However, she clearly reported harm command hallucinations. Her relatives described behavioral changes seven days before the admission, including sleep disorders and persecutory delusions; she thought that she was under surveillance by her employer. Just before the suicide attempt, which occurred at night, she tried to leave the house naked.
Blood investigations on day three showed an extremely high thyroid stimulating hormone (TSH) level (152 mUI/L; reference range 0.20-5.10), low free thyroxine (fT4) level (1.5 pmol/L; reference range 11-24), and low free tri-iodothyronine (fT3) level (< 1.3 pmol/L; reference range 2.5-7). Thyroid peroxidase (1712 UI/ml; reference range <40), thyroglobulin (192 UI/ml; reference range <120), and anti-TSH receptor antibodies (6 UI/L; reference range < 1.6) levels were also elevated. The electroencephalogram and the cerebrospinal fluid on day six were normal. A brain magnetic resonance imaging scan showed nonspecific subcortical hyperintensities in the white matter. A thyroid ultrasound revealed signs of thyroiditis, without nodule.
Oral antipsychotic treatment (chlorpromazine 100 mg per day) was initiated on day three to reduce both the impulsivity and anxiety. On day seven, the patient also started oral thyroid replacement therapy (levothyroxine 50 μg per day for seven days, then 100 μg per day for two days, and finally 125 μg per day) because of a persistent increase of the TSH level. The psychotic symptoms rapidly disappeared between day 14 and day 19 and did not uncover any underlying mood disturbance. The cutaneous myxedema drastically reduced on day 18. The antipsychotic treatment was gradually stopped from day 19 to day 25. Endocrine blood tests on day 22 showed TSH level at 83.1 mUI/L and fT4 level at 8.4 pmol/L. The patient was discharged on day 32.
At follow-up visits one week and one month after discharge, the patient was asymptomatic and the TSH level was 22mUI/L and 8.37mUI/L, respectively. She did not remember in detail the suicide attempt but could express a feeling of “not being herself” at that time.
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pmc-6343154-1
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A 42-year-old woman presented with right breast invasive ductal carcinoma (TNM stage: cT3N1M0) which was human epidermal growth factor receptor 2 (Her2) overexpressed and estrogen receptor (ER) and progesterone receptor (PR) negative in August 2013. Modified radical mastectomy was performed in November 2014 after finishing 8 cycles of preoperative chemotherapy with trastuzumab incorporated. The surgical specimen had resection margins clear of tumor cells and was staged as ypT2N2a. She was afflicted with right chest wall local recurrence less than two months after the mastectomy. Complete remission of the recurrence was achieved by local external beam irradiation. Administration of trastuzumab was continued to a total of one year. Nonetheless, seven months after completion of locoregional radiotherapy, some right chest wall skin lesions appeared in October 2015 with enlarged ipsilateral supraclavicular lymph nodes, which were both confirmed to be recurrent breast cancer by biopsy. She received salvage chemotherapy with paclitaxel plus pertuzumab and trastuzumab every 3 weeks. The disease progressed with multiple liver and lung metastases in April 2016. Ado-trastuzumab emtansine was administered every 3 weeks, and the metastatic lesions subsided completely on 2 serial contrast-enhanced CT scans in August and September 2016. Nonetheless, the patient was afflicted with rapidly worsening jaundice in late September 2016. Meanwhile, serial elevation of serum levels of carcinoembryonic antigen (CEA) was detected with fluctuating serum levels of carbohydrate antigen 15.3 (CA15.3) and carbohydrate antigen 19.9 (CA19.9). Magnetic resonance cholangiopancreatography (MRCP) showed segmental thickening of the common bile duct which was hypointense on T1WI and hyperintense on T2WI with contrast enhancement. A swollen, hyperemic major duodenal papilla and a well-demarcated luminal stricture 7 cm in length spanning the middle and lower portions of the common bile duct were detected in endoscopic retrograde cholangiopancreatography (ERCP). ERCP brushing cytology yielded suspicious malignant cells. Forceps biopsy from the major duodenal papilla was consistent with poorly differentiated adenocarcinoma (Figures and ), of which histopathologic features showed no overt similarity to those of the prior mastectomy specimen. Immunohistochemistry (IHC) profiling was positive for cytokeratin7 (CK7), Her2, transacting T-cell-specific transcription factor GATA-3 () and negative for cytokeratin20 (CK20), ER, PR, and gross cystic disease fluid protein-15 (GCDFP-15) (Figures –). The ampullary lesion was considered to be a metastasis from breast cancer. The patient's jaundice exacerbated in spite of papillosphincterectomy and bile tract stenting. She deceased in December 2016.
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pmc-6343160-1
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Case 1 is a 26-year-old female with negative history of FMF in her family. The first presentation of this disease started at the age of 14 including: abdominal pain, fever, nausea, arthralgia in knee joints, and erythematous swelling of the limbs (erysipelas-like eruption). She usually had an attack every 2 weeks that would last for 1-2 days with a severity score of 10. Her MEFV gene mutation was: E148Q (heterozygous).
She started using colchicine 1 mg daily about 12 years ago but the results were not desirable enough, and she increased the dose to 2.5 mg daily, and then, the number of attacks was reduced to one attack every 20–30 days that would last 1 day with a severity of 5-6. We added dapsone 100 mg daily about 3.5 years ago, and since then, she did not have any similar attacks, except by discontinuation of the drug because of its unavailability in a short course period, her attacks recurred.
There have been no known side effects of colchicine or dapsone in this case.
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pmc-6343160-2
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Case 2 is a 40-year-old female with no history of FMF in her family. The onset of disease was from age 20 with abdominal pain, chills and fever, diarrhea, sweating, and arthralgia such as knee pain. She had an attack every 2 weeks that would last for 3-4 days with a high severity score near 10.
She started using colchicine 1 mg three times daily about 10 years ago, and then after the number of attacks was decreased to one episode every 2-3 months lasting for 1 day with a severity score of 7-8. Her MEFV gene mutations were M680I (G/C)/V726A (compound heterozygous).
From 9 months ago, we started using dapsone 50 mg daily, and since then, she was free of similar symptoms.
She suffers from occasional dizziness as known side effect of this drug.
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pmc-6343160-3
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Case 3 is a 38-year-old male with positive family history of FMF. He presented his first signs at the age of 14 but with delayed diagnosis until he was 30 years old. His symptoms were fever, arthralgia, body pain, and oral ulcer. The frequency of his attacks was variable, and each attack lasted for 3-4 days with a high severity score.
He started using colchicine 1 mg daily 8 years ago, and then after he suffered similar attacks with no response to colchicine although with high doses (2 mg). His MEFV gene mutations were C.1981G > T (D661Y), we submitted this as a new mutation in infevers.
From 9 months ago, we started dapsone 50 mg daily. Dapsone significantly controlled the attacks during this time. There have been no known side effects of this treatment in this case.
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pmc-6343160-4
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Case 4 is a 32-year-old male with negative family history of FMF. His first presentation was at the age of 23 years old with abdominal pain, vomiting, fever, chills, and limbs pain.
He was diagnosed with FMF at the age of 25, and his MEFV gene mutations were M680I (G/C) M680I (G/C) (homozygous). His attack intervals were almost 10 days, and it lasts for 3-4 days with a high severity score.
He started using colchicine 1 mg twice daily from 7 years ago, and since then, the number of attacks was decreased to one attack every month with similar pattern.
Seven months ago we added dapsone 50 mg daily, and since then, he was completely free of symptoms. There have been no known side effects of this therapy.
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pmc-6343160-5
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Case 5 is a 12-year-old female with negative family history. Her first signs presented at 3 years of age with: fever, abdominal pain, vomiting, chills, and sweating. She usually had an attack biweekly, lasting for 3-4 days with a high severity score. Her MEFV gene mutations were M694V/M680I (heterozygous).
She started using colchicine 1-2 mg daily from 6 years ago with unfavorable response. From 7 months ago, we added dapsone 50 mg daily, and since then, she has not have any attacks.
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