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pmc-6230337-1
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A 38-year-old Japanese housewife who was a heavy smoker was admitted to our hospital because of upper respiratory distress that developed half a year prior to admission. She had no past medical history. On admission, her vital signs were normal. Physical examination showed hoarseness, stridor, wheezing, and orthopnoea, but no swelling of the tonsils, thyroid, or lymph nodes. A computed tomography of the neck revealed an enlarged tumor ().
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pmc-6230338-1
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A 54-year-old male with a past medical history of nephrolithiasis and hypertension arrived to our ED at 9:55 a.m. with complaints of left flank pain with nausea and vomiting. The patient noted that he had experienced similar paroxysms of pain with his previous episode of nephrolithiasis. He described his current symptoms as starting suddenly four hours prior to arrival to the ED. The pain was localized to his left flank with no alleviating or exacerbating factors, and he described it as a sharp sensation with radiation to the left inguinal region. The patient rated this pain numerically as a 10/10 in severity with associated nausea and episodes of non-bloody, non-bilious vomiting.
Upon arrival, his vitals revealed a blood pressure of 179/87 millimeters of mercury, pulse 63 beats per minute, respiratory rate 16 breaths per minute, 100% oxygen saturation on room air and temperature of 97.0°F. His blood glucose was 132 milligrams per deciliter (mg/dL). Lab work obtained included a complete blood count, complete metabolic panel, and urinalysis, which were found to be unexceptional aside from microscopic hematuria. The patient had a similarly unremarkable physical examination. A computed tomography (CT) of his abdomen and pelvis was obtained, and attempt at parenteral analgesia with intravenous (IV) ketorolac 15mg followed by hydromorphone 1mg IV were done. The CT revealed a three-millimeter obstructing calculus at the left ureterovesicle junction (UVJ) with left-sided perinephric stranding and mild hydronephrosis.
The patient continued to have significant pain despite continued opioid dosing. Shortly after his CT, the patient’s wife alerted ED staff that he was repeatedly asking her, “How did I get here?” and “Why am I here?” The patient was evaluated, and his physical examination was repeated to reveal no neurologic deficits. His presentation and physical examination were not consistent with opioid intoxication or medication side effect as he maintained his respiratory drive at baseline as well as his procedural memory, and was not opioid naïve, having received similar medications during his previous episode of renal colic. It was revealed at this point that the patient did not have any recall about his IV placement, lab draws, or his CT. The decision was made to obtain a non-contrast CT of his brain, which revealed no acute intracranial abnormalities. Because of the patient’s presentation and clinical course, the decision was made to admit him to the observation unit and obtain a neurology consult for possible TGA secondary to stress and pain induced by the patient’s nephrolithiasis. The neurologist consulted obtained a thorough history and examined the patient. He underwent MRI and magnetic resonance angiography (MRA) of the brain, electroencephalography (EEG), carotid ultrasound, and echocardiogram, as well as further lab testing that included a thyroid stimulating hormone, vitamin B-12 levels, folic acid level, and rapid plasma reagin testing. All additional testing was normal. The patient’s symptoms resolved within the same day of admission (within 24 hours). He was discharged with a diagnosis of TGA.
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pmc-6230339-1
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A 74-year-old male presented to the emergency department with right-sided weakness and confusion and was found to have a left parietal intraparenchymal hemorrhage with cerebral edema and left-to-right midline shift on non-contrast computed tomography (CT) of the head. Increase in cerebral edema and expansion of the hematoma caused clinical neurological decline necessitating a left-sided hemicraniectomy with clot evacuation. A cranial ultrasound was performed two days after surgery to assess for progression of cerebral edema and intracranial hemorrhage. A transtemporal approach in axial plane was used to visualize intracranial structures through the craniectomy window ( and ). Physiological structures such as the falx cerebri, lateral ventricles, midbrain, mammillary bodies, choroid plexus, splenium of corpus callosum, thalami, and circle of Willis were visualized with incredible anatomical detail. Pathologies such as intracranial hemorrhage, focal ischemic areas, and vasogenic edema, as well as encephalomalacia, were identified with close correlation to the non-contrast head CT. The patient is currently recovering in the neurocritical care unit with supportive care.
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pmc-6230340-1
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An 18-year-old male presented to the emergency department (ED) via ambulance after sustaining a blunt force injury to the left chest from a rocket-type firework. He received a needle thoracostomy in the prehospital setting by paramedics after he was noted to be hypotensive with absent breath sounds on the left. Initial ED vitals were temperature of 37.3°C, blood pressure 90 over palpation, heart rate 147 beats per minute, respirations 30 breaths per minute, and oxygen saturation of 89% on 15 liters of oxygen. The left anterior chest wall demonstrated a large ecchymotic burn with powder stippling and an obvious flail segment billowing paradoxically as high as seven centimeters. Subcutaneous crepitation was palpated in the soft tissues of the chest and neck. Tube thoracostomy was rapidly performed and chest imaging obtained ( and ).
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pmc-6230341-1
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A 30-year-old male with history of bipolar disorder and previous incident of elemental mercury ingestion in a suicide attempt, presented to the emergency department with new-onset nausea and vomiting. Abdominal radiograph showed a collection of metallic material in the appendix (), which was confirmed by computed tomography. Blood mercury level was found to be 120 micrograms per liter (mcg/L). Repeat abdominal radiograph approximately six hours later, after the patient was placed in lateral decubitus position and Trendelenburg position, showed partial spillage of the mercury out of the appendix into the cecum (). The patient was admitted for bowel irrigation with chelation therapy. Symptoms resolved after the first day, and repeat radiographs showed gradual clearance of mercury from the colon.
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pmc-6230342-1
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An 83-year-old Filipino woman was brought to the emergency department (ED) by family for chief complaints of fever and emesis. Much of the patient’s history and review of systems was obtained through her daughters, as the patient only spoke Tagalog and had severe dementia. The patient lives with her daughters who are her primary caregivers. The patient’s husband is deceased. The daughters report that the patient was at her baseline mental status the night before. This morning they found her warm to the touch and obtained an oral temperature of 38.3° Celsius. She was constantly shifting her gaze about the room and appeared mildly distressed. She then had one episode of non-bloody, non-bilious emesis, so the daughters decided to bring her to the ED for evaluation.
The patient primarily communicates through hand gestures, incomprehensible sounds, or nonsensical words. She has not missed any doses of her medications, nor has she had any cough, urinary frequency or incontinence, any changes in her bowel habits, focal weakness, or rashes. Her daughters report no evidence of abdominal pain, dysuria, back or flank pain, chest pain, or lightheadedness.
The patient has a past medical history of hypertension, diabetes mellitus, myocardial infarction with stent placement, and hyperthyroidism. The patient is a retired teacher but has not worked in years. She has not had any surgeries. She does not drink alcohol, smoke cigarettes, or use illicit drugs. Her medication list includes glimepiride, metformin, gabapentin, pioglitazone, hydrochlorothiazide, lisinopril, aspirin, atorvastatin, ticagrelor, potassium supplements, methimazole, risperidone, trazadone, donepezil, escitalopram, and memantine. Her medicines are administered by her daughters and stored in a cabinet by her bed along with some salves, creams, and medicinal oils. The family reports that the patient has no known drug allergies.
Physical examination revealed a thin, frail, elderly Asian woman lying calmly on the stretcher. She had a temperature of 36.8° Celsius, a blood pressure of 185/85 millimeters of mercury, a pulse of 112 beats per minute, a respiratory rate of 36 breaths per minutes and an oxygenation saturation of 98% on room air. Her body mass index was 21. Her head was atraumatic and normocephalic. Her extra-ocular movements were intact and her pupils were four millimeters in diameter, round, equal, and reactive to light. Her oral mucosal membranes were moist. She was tachycardic on exam, but there were no audible murmurs, rubs or gallops. She had normal breath sounds bilaterally. She was clearly tachypneic and had mild subcostal retractions. Her abdomen was soft and normal bowels sounds were heard. She was not distended or tender, and she did not have any rebound, guarding or organomegaly. All four extremities were warm, well perfused and without any tenderness to palpation. Neurologically, she was not oriented to self, place, or time, and would only follow simple commands.
Laboratory results are shown in . Her electrocardiogram is shown in , and a chest radiograph (CXR) in .
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pmc-6230343-1
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A 55-year-old male presented to the emergency department (ED) complaining of one hour of difficulty breathing that woke him from sleep. Symptoms worsened when lying down on his left side. He endorsed a mild sore throat that was felt in the oropharynx; however, he spoke in a normal tone of voice and denied any difficulty swallowing, fever, nausea, vomiting, diarrhea, cough, or previous neck surgery or radiation. He denied history of food allergies, drug allergies, or reaction to toxic insults. He denied any recent changes to diet or travel. He was employed as a mechanic but denied prolonged exposure to exhaust or working without appropriate protective equipment. He admitted to frequent methamphetamine smoking, most recently the evening before presenting to the ED. He denied any current medications, previous exposure to angiotensin-converting-enzyme (ACE) inhibitors, or previous adverse reaction to nonsteroidal anti-inflammatory drugs (NSAIDs). He denied previous diagnosis of lymphoproliferative disorders or family history of angioedema.
Upon arrival to the ED, the patient had the following vital signs: blood pressure 141/93 millimeters of mercury, temperature 98.8° F, heart rate 86 beats per minute, respiratory rate 16 breaths per minute, and oxygen saturation 99% on room air. On physical exam his lungs were clear to auscultation bilaterally, without vesicular breath sounds and no evidence of stridor or wheezing. Oropharyngeal exam did not reveal any significant erythema; however, the patient’s Mallampati score of 4 obstructed sufficient visualization of the posterior oropharynx. Using a tongue depressor, we observed an erythematous and edematous uvula (). No tonsillar hypertrophy or exudates were observed. Given the patient’s ability to speak in full sentences with normal oxygen saturation on room air, he was not deemed an appropriate candidate for intubation despite continued complaint of shortness of breath.
Laboratory values of complete blood count and complete metabolic panel were unremarkable, reducing the likelihood of infectious etiology. Due to the patient’s discomfort and the likelihood of inflammation vs. angioedema etiology of complaint, he was treated with 60 milligrams (mg) of methylprednisolone, 25 mg of diphenhydramine, and 20 mg of famotidine. The patient markedly improved within several hours and reported that he felt “100% better.” He was discharged with a prescription of 20 mg prednisone once daily for a three-day course. Strict return precautions were given and he was instructed to follow up with his primary care physician.
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pmc-6230344-1
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A 67-year-old man presented to the emergency department (ED) complaining of sudden onset atraumatic right lower extremity pain shortly after using crack cocaine. He described the pain as sharp and burning throughout his entire leg. The patient denied chest pain, shortness of breath, abdominal pain, and focal neurologic symptoms. His past medical history was otherwise unremarkable.
On examination, the patient was alert and oriented but in obvious distress. Vital signs were within normal limits excluding a blood pressure of 180/100 millimeters of mercury (mmHg). The cardiopulmonary and abdominal examinations were benign with notably equal radial pulses. The patient’s right lower extremity was cool to touch without palpable pulses distal to and including the common femoral artery. The left lower extremity was warm with bounding pulses. On neurologic exam, the patient had normal and symmetric strength in his bilateral upper and lower extremities without apparent sensory deficits.
Based upon the patient’s acute presentation a POCUS was performed immediately in the ED. Our emergency ultrasound division has developed a protocol combining transthoracic echocardiography (TTE) and abdominal aorta ultrasound to evaluate for aortic pathology. POCUS demonstrated a large, undulating intimal flap within the abdominal aorta (). TTE did not reveal evidence of a Stanford Type A dissection. Immediate aggressive blood pressure control was initiated, and the patient was taken emergently for computed tomography (CT), which confirmed a Stanford Type B dissection (). Ultimately, the patient underwent thoracic endovascular aortic repair without complications.
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pmc-6230345-1
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A 58-year-old male with a history of hypertension and cardiac stents two years prior had just arrived at a Saturday morning prayer breakfast at church when he suddenly went unresponsive and was found to be pulseless and apneic by bystanders. CPR was immediately initiated. Emergency medical services (EMS) arrived with a six-minute response time. The patient was found to be in VF and defibrillated at 200 joules (J) unsuccessfully. Intraosseous access was established and epinephrine was administered. A supraglottic airway device was placed for ventilations and amiodarone 300mg was given. Over the course of 26 minutes five subsequent standard defibrillations were administered unsuccessfully.
At this point EMS contacted online medical control, and DSD was ordered. The patient had a second set of pads placed in the anteroapical position. Both the engine and medic defibrillators were used to deliver 360J, each nearly simultaneously. The post-shock rhythm revealed pulseless electrical activity (PEA) on the monitor, and CPR was resumed along with the seventh dose of epinephrine. The patient then was noted to be back in ventricular fibrillation, and dual sequential defibrillation was again performed. The post-shock rhythm analysis revealed a brief period of systole into sinus bradycardia with the ROSC. ROSC was achieved 38 minutes from the time of 911 dispatch.
En route to the hospital, the patient again lost pulses and was found to be in PEA. On arrival to the emergency department, he was confirmed pulseless, and CPR was continued. Point-of-care ultrasound showed cardiac activity shortly after ROSC was achieved again. The patient was intubated and central venous access established with norepinephrine infusion to stabilize blood pressure. His electrocardiogram revealed ST-segment elevation in augmented vector left (aVL) and the patient was urgently taken to the cardiac catheterization lab where he was found to have 100% occlusion of his circumflex artery and had a single stent placed. The patient was transferred to the intensive care unit where he was extubated less than 24 hours later. The patient was then discharged to home after only six days in the hospital. His inpatient echo showed an ejection fraction of 60%. At 30 days post-arrest he had some minor, short-term memory issues but had returned to work. The only complication was a lower extremity deep vein thrombosis.
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pmc-6230346-1
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A 61-year-old man was transported to the ED by ambulance with a complaint of confusion. His past medical history was significant for recently diagnosed pemphigus vulgaris that was being treated with steroids. His family described gradual functional decline over the prior two weeks with no changes in his skin lesion. On the day of ED presentation, he was no longer responding verbally to his family members. He had no history of diabetes mellitus or peripheral vascular disease.
On assessment in the ED, he was found to have a waxing and waning level of consciousness and was alert to self only. His initial vital signs were heart rate of 134 beats per minute, blood pressure of 141/86 millimeters of mercury, respiration of 16 breaths per minute, temperature of 37.1°C (98.8°F), and oxygen saturation of 95% on room air. He was ill-appearing with dry mucous membranes and poor skin turgor. He was also found to have a cold, pulseless, right lower extremity. Laboratory evaluation revealed marked hyperclycemia (blood glucose, 1077 milligrams per deciliter [mg/dL]), hemoconcentration (hemoglobin, 20 grams/dL), sodium concentration of 172 millimoles/L, anion gap of 23, and acute kidney injury (creatinine, 2.47 mg/dL). Urinalysis revealed a urinary tract infection without ketones. His thyroid-stimulating hormone level and a noncontrast computed tomography of his head were unremarkable. Duplex ultrasound of the lower extremity demonstrated total occlusion of the right proximal common iliac and popliteal arteries.
Based on these results, we diagnosed HHS with limb ischemia and sepsis from urinary tract infection. The patient was treated with insulin, heparin, and broad-spectrum antibiotics in the ED. His free water deficit was calculated to be greater than 10 L. Fluid management included initial volume resuscitation with 3 L of Plasma-Lyte. He was then transitioned to slow sodium correction with normal saline over 24 hours. He was admitted to an intensive care unit (ICU) with vascular surgery consultation for management of the limb ischemia.
The patient underwent through-the-knee amputation due to irreversible tissue damage on hospital day three. During his ICU stay, his blood glucose and sodium levels were corrected gradually and the acute kidney injury resolved. The patient did well during hospitalization and was discharged to an inpatient rehabilitation facility on hospital day 11.
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pmc-6230347-1
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A 43-year-old, previously known to be healthy woman was brought to the ED by emergency medical services (EMS) after her husband found her to be confused. EMS provided oxygen by facemask and obtained peripheral venous access. Upon arrival to the ED, the patient demonstrated depressed mental status but when aroused, she complained of generalized weakness. Her heart rate was 80 beats per minute, blood pressure was 78/52 millimeters of mercury, respiratory rate was 14 respirations per minute, and temperature was 37.1° Celsius (98.8° Fahrenheit). The bedside glucose level was 170 grams per deciliter (g/dL). A cardiorespiratory monitor was attached to the patient, and one liter (L) crystalloid was infused with a pressure bag. The patient was somnolent but arousable, diaphoretic, and pale. Upon auscultation, the chest was clear and cardiac rhythm regular. Radial pulses were diminished in both upper extremities. There was mild, diffuse abdominal tenderness and a firm mass appreciated in the pelvis. Rectal examination revealed brown stool.
The emergency physician performed point-of-care ultrasonography (PoCUS), specifically a Rapid Ultrasound for Shock and Hypotension (RUSH) examination. The PoCUS demonstrated a moderate amount of free fluid () and a well-circumscribed mass adjacent to the uterus (). Laboratory analysis was significant for a venous lactate level 2.5 millimoles per liter (mmol/L), white blood cell count 11.46 cubic milliliter (K/uL), hemoglobin 9.0 g/dL, and negative urine human chorionic gonadotropin. The patient’s unstable condition precluded confirmatory computed tomography, and gynecology and general surgery were notified immediately for operative management of suspected hemoperitoneum. A repeat RUSH demonstrated an increased amount of free intraperitoneal fluid. While blood products were prepared, two additional L of crystalloid were infused.
Two hours after arrival, the urine output totaled 40 milliliters (mL), and the repeat hemoglobin fell to 5.0 g/dL. The gynecology consultant performed a bedside transvaginal sonogram and suspected the mass to be a uterine leiomyoma. The ED staff transfused the patient with three units of packed red blood cells, and collaborative gynecology and general surgery services brought the patient to the operating room (OR) for explorative laparotomy. The gynecology team noted a leiomyomatous uterus and 2.5 L of blood in the peritoneum. The source of hemorrhage was localized to multiple bleeding vessels overlying a leiomyoma, and the gynecology team performed a myomectomy. The OR staff transfused an additional five units of packed red blood cells and three units of fresh frozen plasma. The patient had an uneventful postoperative course and hospital stay. She was discharged from the hospital several days later and appeared healthy at postoperative checkups.
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pmc-6230348-1
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A 37-year-old female with a history of attention deficit disorder and postural orthostatic tachycardia syndrome (POTS) with neurocardiogenic syncope presented to our hospital’s emergency department (ED) complaining of an abrupt onset of pain and paresthesias in her left arm, adjoining left chest wall, and inferior neck that began one hour prior to arrival. Her surgical history was significant for transvenous cardiac pacemaker placement one year earlier, pacemaker pocket revision six weeks prior, and re-implantation of a dislodged atrial pacer lead four weeks prior. She denied history of tobacco, alcohol, or illicit drug use. She also denied any history of prior stroke, prior blood clot, or recent trauma of any kind. On review of systems, she denied any recent fevers, headache, vision change, shortness of breath, abdominal pain, nausea, or vomiting. Upon arrival, the patient’s vital signs were unremarkable. Her physical exam was significant for mildly decreased sensation to light touch over the LUE and adjoining left superior anterolateral chest wall. She had 4/5 strength in all muscle groups of the LUE with otherwise normal strength and range of motion throughout her other extremities. She had no facial asymmetry, dysarthria, mental status changes, or pronator drift. Visual inspection of her LUE revealed mild skin erythema compared to the right side. She had 2+ peripheral pulses throughout and no obvious venous engorgement.
Because of the patient’s acute onset of objective neurologic signs and concern about her unilateral dysesthesia and weakness, she received an expedited stroke workup that included laboratory studies as well as a non-contrast computed tomography (CT) of the head, perfusion CT of the head, and CT angiogram of the head and neck. Upon repeat examination when the patient was brought from the CT scanner to her room in the ED, she was noted to have developed significant edema and purple discoloration of her LUE from the shoulder to the fingers. Her LUE was cold to touch but her distal pulses were still palpable. She reported worsening pain in her entire LUE. Venous color-flow Doppler imaging had been ordered but was expedited after the findings of her repeat examination. It showed occlusive thrombus throughout the veins of the LUE including the subclavian, brachial, axillary, and basilic veins. Arterial color-flow Doppler imaging of the LUE showed normal arterial flow.
The remaining laboratory and imaging studies of her workup were negative. She was immediately started on intravenous unfractionated heparin, and vascular surgery was consulted emergently. Although the on-call vascular surgeon felt that prompt intervention was crucial, the patient’s indwelling cardiac pacemaker presented a dilemma that required input from the on-call electrophysiologist regarding the safety of removing the patient’s pacemaker. The electrophysiologist recommended against removal of the patient’s pacemaker due to the significant risks associated with her severe and debilitating POTS and neurocardiogenic syncope.
The patient was admitted to the intensive care unit, and the following morning she was taken to the operating room by vascular surgery where a venogram revealed an occlusive thrombus of the left subclavian and brachiocephalic veins extending proximally to the junction with the superior vena cava. She underwent balloon venoplasty and ultrasound-guided, catheter-directed thrombolysis using tissue plasminogen activator, after which her symptoms completely resolved. Repeat venogram after 24 hours showed near-complete resolution of the clot with some mild stenosis noted in the proximal left subclavian vein (). During her hospitalization she underwent a full workup for thrombophilia, which was negative. The patient was discharged on hospital day four without any residual signs or symptoms. Prior to discharge, she was started on oral rivaroxaban, which she was to continue for at least six months.
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pmc-6230349-1
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A 16-year-old girl with cerebral palsy, secondary to prenatal hypoxic brain injury, was brought into the emergency department (ED) by her parents because of progressive, nighttime gagging. The patient’s parents related that over the prior 10 months she had been having episodic and worsening episodes of choking on her own saliva at night while falling asleep and during sleep. These episodes would progressively worsen over five to six weeks and then improve. A few weeks later, the cycle would repeat.
During the day, the patient had no difficulty clearing secretions. The patient did not have fevers, chills, cough, or sputum production. She was taking her baseline diet. The patient’s speech was unchanged. The parents did endorse waxing and waning generalized weakness in the patient over the prior several months, the course of which tracked with the gagging. The patient’s only medication was famotidine, which she took by mouth. She had no allergies and had no other medical or surgical history. The patient was enrolled in high school, where she was doing well and had many friends. The parents strongly doubted any drug or alcohol use.
The patient’s parents related that her care was managed primarily by her neurologist with bi-monthly appointments. The choking episodes had, without fail, resolved by the time of each visit. There had been no changes in the patient’s health and no new illnesses or diagnoses for the preceding five years. The parents mentioned that at each visit for the prior two years the patient had been receiving local botulinum toxin injections in her arms and legs to relieve her muscle spasticity. The parents relayed that the neurologist had been increasing the dosing of botulinum over the prior year in an attempt to achieve better spasm control.
Physical exam revealed a friendly girl in no acute distress. No gagging or coughing was noted. Her vitals signs showed an oral temperature of 36.4 degrees Celsius, a heart rate of 71 beats per minute, a blood pressure of 115/78 millimeters of mercury, a respiratory rate of 14 breaths per minute, and an oxygen saturation of 100% on room air. The oropharynx was clear. Oral mucosa was moist without any obvious lesions. There was no drooling or difficulty clearing secretion, and she had an intact gag reflex. Extraocular movements were intact with no ptosis, and pupils were reactive to light. The patient’s tongue projected midline, and speech was at baseline per parents. There was no lymphadenopathy in the head or neck. The patient’s lungs were clear. The remainder of the exam was notable only for diffuse symmetrical muscle spasticity in the upper and lower extremities. A chest radiograph showed no consolidation or evidence of foreign body.
After careful clarification of the time course of the patient’s gagging episodes, it was suggested to the patient and her parents that she might have been having bulbar muscle weakness from botulinum toxin injections, which became noticeable when she was falling asleep, or asleep, and her muscle tone was already relaxed.
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pmc-6230350-1
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A three-year-old female presented to a community emergency department with a one-day pruritic rash on her knee. The patient and the parents noted that the rash blanched intermittently and that this blanching appeared to be what they called a “blinking” bug bite. Physical examination revealed a normal child with no heart murmur and two bullous lesions around the left knee that blanched in a pulsatile fashion, corresponding to the femoral pulse ( and , ).
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pmc-6230351-1
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A 30-year-old male presented to the emergency department with intermittent neck pain, dysarthria, right facial droop, right-sided facial paresthesias and right upper extremity weakness for several days prior. Past medical history was significant for hypertension. Neurologic exam revealed a National Institutes of Health Stroke Scale (NIHSS) score of three secondary to dysarthria, right facial paralysis, and mild right upper extremity hemiparesis. Noncontrast brain computed tomography (CT) showed no evidence of hemorrhage, mass lesion, or acute infarction. CT angiography (CTA) head and neck with three-dimensional rendering demonstrated a large left styloid process and partially calcified stylohyoid ligament and large completely calcified right stylohyoid ligament consistent with Eagle syndrome (). The left cervical internal carotid artery also had severe focal dissection and 99% narrowing. The right cervical internal carotid artery had mild narrowing and intimal irregularity consistent with carotid dissection. Magnetic resonance imaging of the brain demonstrated scattered infarcts predominantly in a band-like pattern within the deep white matter of the left frontal lobe. The patient was admitted to the hospital after neurology consultation and started on enoxaparin. However, he decided to forego further definitive surgical management of his Eagle syndrome.
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pmc-6230352-1
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A 39-year-old man with no known health issues prior to ED presentation,was brought to the ED by family members with concerns for fever, generalized weakness, and abdominal pain of one week’s duration. He had been evaluated at an urgent care facility and referred to the ED after treatment with acetaminophen for temperature of 39.2 °C and ondansetron for nausea; rapid antigen testing for influenza and streptococcus were negative. He reported one week of fevers, night sweats, and anorexia with non-radiating, right upper quadrant pain, as well as multiple episodes of vomiting and the development of loose, gray-colored stools. He denied back pain or urinary symptoms. He had taken a small number of acetaminophen tablets of unknown dosage over the preceding week for fever, but denied regular or excessive use. He denied recent travel, unusual foods, herb or mushroom ingestion, ethanol use, or intravenous (IV) drug abuse. Socially, he admitted to daily marijuana and tobacco use.
Physical examination revealed an acutely ill man with scleral icterus, who was diaphoretic and moaning, complaining of pain. Vital signs on presentation included an oral temperature of 37.3 °C, heart rate of 78 beats per minute, blood pressure of 132/70 millimeters of mercury, and respiratory rate of 20 breaths per minute. Mucous membranes were dry, lungs were clear, and the heart sounds were regular without murmurs or gallops. The abdomen was soft with moderate tenderness in the right upper quadrant without guarding. The liver edge was palpable two centimeters (cm) inferior to the costal margin in the midclavicular line. He was slow to answer but oriented to person, place and time.
Laboratory findings were notable for significantly elevated white blood cell count of 22,300 / millimeters cubed (mm3), hemoglobin of 18.7 grams per deciliter (g/dL), platelets of 171,000 /mm.3 Liver function studies were remarkable for total bilirubin of 16.4 milligrams per deciliter (mg/dL), direct bilirubin of 10.6 mg/dL, aspartate aminotransferase of 2,682 international units per liter (IU/L), alanine aminotransferase of 7,521 IU/L, and alkaline phosphatase of 288 IU/L. Lipase was markedly elevated at 16,879 IU/L. Serum bicarbonate was 24 milliequivalents per liter (mEq/L), blood urea nitrogen was 26 mg/dL, and creatinine 1.53 mg/dL. Glucose was 61 mg/dL, and the remainder of electrolyte panel was normal. Coagulation studies revealed prothrombin time of 41.1 seconds and international normalized ratio (INR) of 4.3. Venous blood gas was notable for pH of 7.38 with lactate significantly elevated at 12.7 mEq/L. Toxicology workup was negative: ethanol less than 3 mg/dL and acetaminophen less than 2 micrograms per liter (μg/mL). Urine screen for drugs of abuse was positive for cannabinoids but negative for benzodiazepines, phencyclidine, opiates, and amphetamines.
Initial imaging included a right upper quadrant ultrasound (US) that revealed gallbladder distension with sludge, peri-cholecystic fluid and anterior wall thickening, but no gallstones. The common bile duct was measured at five millimeters (mm). Computerized tomography (CT) of the abdomen and pelvis obtained without contrast confirmed abnormal gallbladder findings from US and also demonstrated an edematous pancreas with peri-pancreatic fat stranding, without obstructing mass, as well as trace ascites. Initial management included a bolus of two L of IV crystalloids as well as broad-spectrum antibiotic coverage for possible biliary sepsis (1.5 grams [g] vancomycin and 3.375g piperacillin-tazobactam). A repeat bedside glucose of 53 mg/dL was treated with IV dextrose.
The patient was admitted to the medical intensive care unit with consults from the surgical and gastroenterology services. Primary admission diagnoses included acute hepatitis, acalculous cholecystitis and acute pancreatitis of unclear etiology. Lipid panel, including triglycerides, returned normal and the pattern of liver function abnormality did not point to an obstructive picture. Hepatitis serologies subsequently returned positive and suggestive of acute infection: hepatitis B core immunoglobulin M (IgM) reactive, hepatitis B surface antigen reactive, hepatitis B e-antigen and antibody reactive, and hepatitis B deoxyribonucleic acid level significantly elevated at 51,416 IU/mL, indicating highly active viral replication. Testing for cytomegalovirus, hepatitis C virus, hepatitis A virus, hepatitis D virus, hepatitis E virus, Epstein-Barr virus, and human immunodeficiency virus 1 and 2 were all negative.
The patient was questioned regarding risk factors for viral hepatitis; he stated he was sexually active with male and female partners and admitted to unprotected oral intercourse three weeks prior to his acute illness and barrier-protected anal intercourse six months prior to presentation. There was no history of tattoos or blood transfusions and no known prior history of hepatitis infection.
Antiviral treatment was initiated with IV entecavir; IV N-acetylcysteine therapy was given for hepatoprotective effects. Antimicrobial therapy was continued with piperacillin-tazobactam, although cultures of blood and urine showed no growth on hospital day 2, and remained negative. Consultation with transplant surgery placed the patient on emergent status for priority liver transplantation.
The patient developed acute mental status changes with drowsiness alternating with agitation; he could no longer speak in full sentences, and was not oriented to time or situation. Serum glucose was 153 mg/dL and CT of the brain did not reveal structural abnormalities. Progressive decline in level of consciousness with asterixis was associated with ammonia level of 228 micromoles per liter (μmol/L); hepatic encephalopathy was treated with lactulose and rifaximin, given orally. IV vitamin K1 and fresh frozen plasma were given for treatment of worsening coagulopathy, with INR increased to 9.0. He was intubated for airway protection after a vomiting episode with possible aspiration.
The patient’s mental status continued to worsen, and repeat unenhanced head CT demonstrated interval development of cerebral edema with early signs of brainstem herniation. After neurosurgery consultation, hyperosmolar therapy was initiated with IV mannitol and hypertonic saline infusions. Decline in renal function with a fall in serum sodium to 131 mmol/L and minimal urine output was treated with continuous veno-venous hemofiltration. The patient’s neurologic status continued to decline with loss of brainstem reflexes. Given the patient’s likelihood of severe irreversible neurological disability, the possibility for successful liver transplantation was deemed unlikely and the patient’s family elected to withdraw care. After compassionate extubation, the patient expired on hospital day 3, less than 60 hours after his initial ED presentation.
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pmc-6230353-1
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A 58-year-old female smoker with a history of alcohol abuse presented to the ED at a community hospital with a chief complaint of shortness of breath, sore throat, and fever. She reported progressively worsening sore throat and odynophagia over the preceding two days as well as voice change and shortness of breath on the day of presentation to the ED. The patient admitted to fever, chills, diaphoresis, cough productive of phlegm, pain in the sides of her neck, and nausea. She denied sick contacts or recent travel.
On arrival to the ED, the patient’s vital signs were temperature 38.3° Celsius; pulse rate 130 beats per minute; blood pressure 118/72 millimeters of mercury; respiratory rate 20 breaths per minute; and pulse oximetry 99% on room air. The patient was acutely ill appearing with diaphoresis. She was able to phonate in complete sentences. She had full, active range of motion of her neck. On examination of the posterior oropharynx, there was no appreciable edema or peritonsillar abscess noted. She did have a small amount of frothy yellow phlegm in her posterior oropharynx and appeared unable to swallow these secretions. Auscultation of her lungs demonstrated diffuse rhonchi and slight expiratory wheeze.
Sepsis was suspected on arrival, and the ED sepsis protocol was initiated with a suspected source of community-acquired pneumonia. The sepsis protocol included administration of intravenous (IV) fluids at 30 milliliters (mL) per kilogram of body weight and broad-spectrum antibiotics. The patient was given two grams of IV ceftriaxone and 500 milligrams (mg) of IV azithromycin as well as 10 mg of IV dexamethasone. We ordered an albuterol and ipratropium nebulizer treatment as the patient was suspected to have undiagnosed, underlying chronic obstructive pulmonary disease given her smoking status and lung examination.
One hour after initial ED evaluation, the patient was receiving the nebulized breathing treatment when she was found to be sitting up on the side of her stretcher in acute respiratory distress with an oxygen saturation in the seventies. She was anxious appearing and unable to phonate. The patient was immediately transferred to a nearby resuscitation bay. She was placed on 15 L of oxygen by nasal cannula as well as on a non-rebreather mask. Materials for an emergent surgical airway were readied at bedside.
Staff included two nurses, a respiratory therapist, an emergency medicine (EM) attending physician, and two EM resident physicians. Rapid sequence intubation was initially attempted by the EM resident using video laryngoscopy. Upon visualization, we noted significant edema and purulence involving the epiglottis, arytenoids, and adjacent soft tissues causing severe deformity of normal anatomy, which obscured visualization of the glottis. There was pooling of secretions in the supraglottic region as well. The supraglottic tissues were bulbous and friable with diffuse exudates and active bleeding. While initial intubation attempts using the video laryngoscope and a bougie were unsuccessful, the attending physician was able to successfully secure the airway with an endotracheal tube placed with over-the-bougie technique. Fortunately, we were able to achieve adequate ventilation via bag-valve-mask between direct laryngoscopy attempts preventing need for a surgical airway.
Upon review of the laboratory results, the patient was noted to have a white blood cell count of 18,300 cells per microliter and an initial point of care lactic acid of 5.51 millimoles per liter (of note, value was obtained prior to treatment with albuterol). Group A streptococcal testing of the oropharynx was positive. Her troponin I level was elevated at 0.068 nanograms per mL and felt to be secondary to sepsis. Computed tomography (CT) of the chest with IV contrast demonstrated bilateral patchy consolidative changes in the lower lobes consistent with pneumonia, a thickened distal esophagus with retained fluid, multiple wedge-shaped hypodensities in the kidneys consistent with renal infarcts, and hepatic steatosis. A CT of the neck with IV contrast demonstrated enlargement of the tonsils with adjacent edema and narrowing of the airway without definite fluid collection. Following intubation the patient became hypotensive, necessitating placement of a central venous catheter and the use of norepinephrine for continued management of septic shock. The patient was admitted to the intensive care unit.
The patient was extubated the following day, and she was transferred to another facility two days following admission for otolaryngology evaluation. Upon arrival to the second hospital, the patient was evaluated by an otolaryngologist who performed flexible laryngoscopy, which demonstrated epiglottitis with a mottled epiglottis and fibrinous exudate that appeared to be consistent with early resolution of epiglottitis. The patient was continued on IV steroids as well as IV broad-spectrum antibiotics. She continued to require oxygen supplementation to maintain an oxygen saturation above 88%. Respiratory cultures and blood cultures were positive for Streptococcus pyogenes. The patient was discharged from the hospital 15 days following her initial presentation to the ED, the completion of the course of IV antibiotics and the resolution of hypoxia.
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pmc-6230354-1
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A 16-year-old male arrived at the emergency department (ED) complaining of right lower quadrant abdominal pain with some associated nausea and vomiting. The emergency physician (EP) completed an abdominal exam, obtained labs, an abdominal ultrasound, and a computed tomography (CT) of the abdomen and pelvis. These were all unremarkable. Nevertheless, a surgical consultation was obtained to further evaluate for appendicitis. The surgeon did not feel appendicitis was present, and the patient was discharged. A genital exam was never performed. The following day, the patient returned with right testicular pain. He was immediately taken to the operating room for scrotal exploration and required a right orchiectomy. A lawsuit was initiated for failure to perform a genital exam, and failure to consider testicular torsion (TT) in the diagnosis. Before trial a settlement of $300,000 was reached. Isolated abdominal pain is a frequent chief complaint associated with TT, and one review found that failure to complete a testicular exam was associated with 19% of TT malpractice cases. It is imperative to consider this diagnosis whenever lower abdominal pain is present and complete a scrotal exam.
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pmc-6230354-2
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A 14-year-old male was taken to the ED after awakening with abdominal pain. Laboratory studies, an abdominal CT, and a scrotal ultrasound were done. The CT was read as suggestive of appendicitis and thus a surgical consultation was obtained. The surgeon did not feel that appendicitis was present. The radiologist reviewed the ultrasound and diagnosed epididymitis. Based on the studies the EP discharged the patient on antibiotics. Three days later the patient awoke with testicle pain and was taken to a different ED where he was diagnosed with TT and received an orchiectomy. A review of the original ultrasound revealed there was decreased blood flow to the testicle. The patient litigated claiming that the diagnosis should have been made on the first visit and the testicle could have been salvaged. The case was solely against the EP and not the radiologist. There was testimony from the EP that he had ordered the “gold standard” test and relied on the interpretation by radiology. After trial, the jury awarded a $500,000 verdict. This case is typical of others. When a radiologist misreads the testicular ultrasound, often the radiologist pays out less than the EP, or the EP pays out alone. The thought process was that the EP had the ability to make a “clinical correlation” that the radiologist could not make.
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pmc-6230355-1
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A 60-year-old man with known history of alcoholism and mild vascular dementia presented to the emergency department (ED) due to a change in mental status. The patient’s wife reported that for three weeks the patient had subtle personality changes, word-finding difficulties, gait worsening from prior independent ambulation to requiring a walker. Furthermore, the patient had difficulty standing up from the toilet earlier that same day, falling back onto the toilet seat. He did not hit his head or lose consciousness. The patient denied any focal weakness or numbness. He’d had no fevers or chills, headache, change in vision, respiratory symptoms, or urinary symptoms. The patient did endorse drinking daily; he was unable to quantify his alcohol intake, but estimated he had between 5–10 drinks daily. He did drink the day of presentation to the ED.
On physical exam, vitals were stable. The patient was a talkative, obese man with word-finding difficulties. His cranial nerves were normal; in particular, there was no abnormality in ocular movements and no nystagmus. There was no focal weakness or numbness. Finger-nose-finger testing revealed symmetric bilateral dysmetria. The patient declined evaluation of his postural stability and gait. Laboratory evaluation was largely unremarkable, and head computed tomography demonstrated chronic ischemic changes without mass lesion or bleed ().
In the ED, the patient received 500 mg of intravenous (IV) thiamine. He was admitted for altered mental status concerning for Wernicke’s encephalopathy. He received 100 mg of IV thiamine daily, and by day three his mentation improved and his dysmetria resolved. He continued to require a walker to ambulate. The patient resolved to quit drinking. He was discharged from the hospital on a regimen of 100 mg of oral thiamine daily.
The patient followed up with a neurologist approximately one month after hospital discharge. At that visit, the neurologist noted that the patient’s memory and cognitive function had improved. He had mild gait instability and occasional falls, but this had improved as well. Neurologic exam was otherwise normal, including normal finger-nose-finger, heel-to-shin, and rapid repetitive and rapid alternating movements. The neurologist agreed with the clinical diagnosis of Wernicke’s encephalopathy, but the patient refused to undergo magnetic resonance imaging (MRI) due to his claustrophobia.
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pmc-6230356-1
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A 42-year-old female with a history of type II diabetes, partial left nephrectomy, and fibromyalgia was transferred from an outside hospital for concerns of a painful rash on her abdomen and flanks. She was admitted for sepsis and acute kidney injury at the outside hospital three weeks prior to arrival, and was discharged one week later on subcutaneous enoxaparin for deep vein thrombosis prophylaxis. She noticed bruising and rash to her bilateral lower abdomen one week after discharge with progressive pain. She presented to an outside emergency department (ED) for rash and pain control. Abdominal computed tomography showed diffuse body wall edema with no subcutaneous air. The local consulting surgeon did not believe the patient had necrotizing fasciitis but was unsure of diagnosis of the rash. She received piperacillin/tazobactam, vancomycin, and one unit of packed red blood cells prior to transfer. Upon arrival to our ED, physical exam showed tender necrotic firm lesions to her bilateral lower abdomen and flanks with surrounding erythema ( and ).
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pmc-6230357-1
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We present two cases of cerebrovascular accidents. Case #1: A 24-year-old man presented with open fractures of the left femur and tibia after a motor vehicle collision. Within two hours, he developed left facio-bracial paresis. Although he arrived in the window period for thrombolysis, polytrauma precluded thrombolysis. His modified Rankin Scale (mRS) score at admission was five. Case #2: A 26-year-old man presented to the emergency department after eight hours with hemiplegia and global aphasia. His admission mRS score was four. Stroke workuprevealed hyperhomocysteinemia (>114 μmol/L).
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pmc-6230358-1
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A 50-year-old Hispanic male with a history of diabetes presented to the emergency department with a painful maxillary mass for 12 days. He had been previously treated with antibiotics without improvement. Review of systems was significant for fever, diaphoresis, weight loss, and malodorous breath. Physical exam revealed poor dentition, mild tenderness to palpation of the maxillary sinuses and a 2.5 × 4 cm yellow, rubbery lesion on the hard palate (). The mass was pliable and adherent. Computed tomography of the face revealed irregularities of the hard palate, subcutaneous emphysema, and chronic sinusitis ( and ).
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pmc-6230359-1
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A 33-year-old female with a history of psoriasis presented to the emergency department with a diffuse, pruritic skin rash that had been progressive for two days. She complained of associated subjective fever, chills, and myalgias. Her exam revealed a diffuse erythematous, blanching, non-tender rash to the face, body, and extremities ( and ). The rash did not involve mucus membranes, but there was involvement of the palms and soles. There was scaling over the extensor surfaces and sparing of the flexor surfaces. The patient had been admitted to the hospital several weeks prior for a similar rash requiring intensive care unit (ICU) admission, steroids, and methotrexate.
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pmc-6230360-1
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A 63-year-old male was brought into the emergency department (ED) after being found unresponsive. Paramedics in the field noted that the patient was obtunded, with a Glasgow Coma Score of 3 and a blood sugar of 33 milligrams per deciliter (mg/dL). After multiple unsuccessful attempts were made to gain intravenous (IV) access, paramedics used the EZ-IO® to place a 45 mm IO needle into the left proximal tibia()and administered dextrose at a concentration of 50% (D50). Upon arrival to the ED, the patient remained hypoglycemic and unresponsive. He was intubated, and two 50 mL doses of D50 were administered through the IO needle. Nurses noted resistance upon subsequent administration of medications.
POCUS was performed to evaluate the functionality of the IO needle. A high-frequency linear probe (5–10 MHz; SonoSite® M-turbo) with color Doppler was used to evaluate the area proximal and distal to the IO access in transverse (short) plane of the tibial bone. Color Doppler showed absence of flow in the IO space during injection of a small amount of normal saline, concerning for inappropriate IO needle placement (). Subsequently, the tibial IO needle was removed and a second, 45 mm IO needle was placed into the right humerus (). The patient was resuscitated and stabilized, receiving medications without complication through the humeral IO infusion.
Fifteen minutes after arrival to the ED, the patient’s left lower extremity was noted to be cool and mottled. Examination of the extremity showed firm compartments and decreased peripheral pulses concerning for compartment syndrome. The deep posterior compartment pressure was 85 mmHg. A radiograph showed that the IO needle had punctured both the anterior and posterior cortex of the tibia, extending 2 mm beyond the posterior cortex (). The patient was emergently taken to the operating room (OR) by orthopedic surgery for a lower extremity, four-compartment fasciotomy. The procedure demonstrated bulging muscle in all compartments without necrosis. In the OR, all compartments successfully underwent decompression with subsequent return of 2+ palpable distal pulses.
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pmc-6230361-1
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An 11-year-old boy fell onto his outstretched arm. He presented to the emergency department with a deformity of his left wrist. Radiograph revealed a greenstick fracture with volar angulation of the distal radius. The distal ulnar physis was disrupted (Salter-Harris type II) and the proximal metaphyseal fragment was displaced dorsally; however, the distal radioulnar joint was intact (). Closed reduction of the distal ulna under axillary block failed. Three-dimensional computed tomography (3DCT) was performed before open reduction.
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pmc-6230362-1
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A 13-year-old girl presented to the emergency department (ED) after her right knee was forced into valgus after making contact with the opposing goalkeeper while playing soccer. At the scene, she had experienced immediate severe knee pain and was unable to bear weight. Anteroposterior radiographs of the knee revealed a minimally displaced fracture to the lateral femoral condyle (). Computed tomography (CT) revealed injury of the distal femoral epiphyseal growth plate (Salter-Harris type 4), and the point near the epiphyseal closing was tender in the patient (). Three-dimensional CTs are useful in delineating the coronal shear component (). Knee arthroscopy revealed severe complications including posterior cruciate ligament ruptures, medial collateral ligament injury, and longitudinal tear of the lateral meniscus anterior horn, in addition to suspicion of these injuries on preoperative magnetic resonance imaging (MRI). The patient underwent open reduction and internal fixation (ORIF) to achieve anatomic reduction.
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pmc-6230363-1
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A 42-year-old female presented to the ED of a community hospital six hours after lithotripsy and laser stone ablation for left ureterolithiasis with complaints of sudden onset of non-radiating, left-sided, aching abdominal pain for one hour. It was associated with mild nausea and left arm pain that she described as an aching, throbbing sensation. She rated her discomfort as severe in intensity. The pain was unchanged after taking a hydrocodone/acetaminophen 5/325 milligrams (mg) tablet at onset of symptoms. She denied any fever, chills, shortness of breath, or chest pain. She appeared quite uncomfortable.
Past medical history was significant only for kidney stones. She denied any family history of blood-clotting disorders. She had a past surgical history of cesarean section, and recent stone ablation and ureteral stenting described above. The only medication she took was hydrocodone 5/325mg tablets, prescribed post-operatively. She denied any smoking or illicit drug use. The patient admitted to an occasional alcoholic beverage.
Physical exam revealed an overweight female in obvious discomfort with an oral temperature of 97.6°F, heart rate of 92 beats per minute, respirations of 22 breaths per minute, and a blood pressure of 93/60 millimeters of mercury. Significant physical findings included pallor of the left distal forearm with no palpable radial or ulnar pulses, and slightly delayed capillary refill to the fingers of the left hand. Right radial and bilateral pedal pulses were 2+. The abdomen was soft and mildly tender in the left middle and lower quadrants with diminished bowel sounds. There was some mild, left costovertebral angle tenderness.
A working differential of arterial occlusion of the left arm, sepsis secondary to urinary tract infection or pyelonephritis, local peritonitis from ureteral rupture, mesenteric ischemia, and abdominal organ injury from lithotripsy was used to formulate the initial work-up. Vascular surgery was consulted and agreed to see the patient emergently in the ED. Diagnostic studies included a complete blood count (CBC), comprehensive metabolic panel, lactic acid, blood cultures, computed tomography angiography (CTA) of the left upper extremity and CT of abdomen and pelvis, pain and nausea control with doses of fentanyl and ondansetron.
CBC showed a white blood count of 16.2 and 96% neutrophils, a hemoglobin level of 11.3, and platelets of 218. Chemistries were within normal limits, except for a mild hypokalemia at 3.3 (repleted intravenously) and a lactic acid elevated at 4.0. CTA of the left upper extremity revealed a non-occlusive thrombus in the aortic arch extending into the origin of the left subclavian artery measuring 12 millimeters (mm) by 12 mm (), as well as thromboembolic occlusion of the distal left brachial artery at the elbow with reconstitution at the level of the proximal radial and ulnar arteries (). CT of the abdomen and pelvis showed majority of the spleen was non-enhancing, suggesting a large infarct (). Given initial concern for sepsis, broad-spectrum coverage with vancomycin and piperacillin/tazobactam was initiated. Vascular surgery recommended transfer to a tertiary facility for possible urgent vs. emergent aortic thrombectomy as our facility did not have cardiovascular surgical capabilities. The patient was heparinized in the interim. Initial coagulation studies, obtained after initial heparin bolus, showed international normalized ratio range (INR) of 1.25 and partial thromboplastin time of 74. Consultation with the cardiovascular surgeon was obtained at the nearest tertiary facility. They agreed with the possible need for urgent intervention, and the patient was accepted for transfer with no further recommendations regarding her care at that time. The patient’s pain was initially treated with intermittent doses of opioids. While awaiting transport, she became increasingly restless and unable to remain still in bed causing dislodgement of monitoring equipment and intravenous access. Due to the intractable pain, compliance with care, and concern for patient safety during transport, the decision was made to intubate her. Routine rapid sequence intubation was performed. Sedation and analgesia with propofol and fentanyl was initiated. The patient was adequately sedated at this point and stable. Transport to the tertiary facility proceeded without further issue.
At the tertiary facility, the patient remained stable. She experienced return of circulation to the upper extremity without intervention. A repeat CTA of the aorta several hours after arrival showed resolution of the aortic thrombus. The remainder of the patient’s hospital stay was uneventful. No underlying pathology was identified as the cause of her acute thrombus formation. She was transitioned to warfarin and discharged home to follow up with her primary care physician for management of her anticoagulation. Several weeks after this event, the patient had outpatient workup for left chest discomfort. INR at that time was therapeutic, and a CTA of the chest showed no evidence of pulmonary embolism. There was a reactive left lower lobe process with a small pleural effusion, believed to be related to a perisplenic fluid collection. The spleen was noted to be slightly larger than on prior study and continued to show changes consistent with an infarct. Her symptoms resolved with supportive care, and follow-up studies showed resolution of the inflammatory process and subsequent splenic atrophy. She currently remains on warfarin and has experienced no post-embolic sequelae other than splenic atrophy.
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pmc-6230364-1
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A 48-year-old male with a history of polysubstance abuse came to the urgent care area of our ED with a complaint of constant, aching pain over his sternum and right clavicle. The pain had gradually worsened and was accompanied by intermittent subjective fevers over the prior week. That day the area developed erythema, swelling, and fluctuance (). The patient was afebrile and had a pulse of 89 beats per minute, a blood pressure of 116/70 milligrams of mercury, a respiratory rate of 16 breaths per minute, and 100% pulse oximetry on room air. He was well appearing on exam, requesting food, and he frequently left to smoke cigarettes outside. The patient had a normal white blood cell count and venous lactate. An ultrasound of the area of pain and swelling () and a computed tomography (CT) of the patient’s chest () were completed.
The preliminary ultrasound report revealed an abscess adjacent to the patient’s right sternoclavicular joint (). A CT of the chest revealed bony destruction of the manubrium and clavicles with abscess extending into the anterior mediastinum (). The patient was admitted for IV antibiotics and underwent a bilateral sternoclavicular debridement and abscess drainage with thoracic surgery.
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pmc-6230365-1
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A 70-year-old Japanese man with untreated depression but no history of trauma had fallen seven days prior to hospitalization. After the incident he developed disturbance of consciousness, and his speech gradually became incoherent due to masseter spasm. His vital signs on admission were as follows: blood pressure 97/53 mmHg; pulse 99 beats per minute; body temperature 37.8 °C; respiratory rate 15 breaths per minute; SpO2, 99% without oxygenation; Glasgow Coma Scale Eye opening 3, Verbal response 3, Motor response 2. Physical examination revealed a back abrasion, stupor, and spasmodic laughter (). Blood tests including markers of inflammation and creatinine kinase, urinalysis, cerebrospinal fluid, blood cultures, imaging, and electroencephalography findings were normal. Administration of human tetanus immunoglobulin, tetanus toxoid, and penicillin did not improve the patient’s symptoms. On day two, blood tests were normal; thus, we administrated 5 mg diazepam. After that, we observed remarkable improvement in the patient’s consciousness, trismus, and fever.
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pmc-6230366-1
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A 53-year-old female with a history of hypertension, congestive heart failure, and generalized anxiety disorder taking 81 milligrams of aspirin daily presented as a trauma activation following a motor vehicle collision. She was the restrained driver of a vehicle traveling at approximately 45 miles per hour that was rear-ended by another vehicle traveling at unknown speed. Airbags were deployed. The patient was extricated by first responders.
Upon presentation to the emergency department she was complaining of severe right breast pain. She was initially tachycardic at 115 beats per minute with a blood pressure of 128/60 millimeters of mercury (mmHg). Her primary survey was intact and her secondary survey was significant for ecchymosis to her right breast, which was swollen, tense and exquisitely tender (). No further evidence of trauma was noted.
After the primary survey her right breast continued to expand and her blood pressure was noted to deteriorate to a recorded low of 99/52 mmHg despite a fluid bolus and blood transfusion. A computed tomography of the chest demonstrated a 10.5 cm × 12.7 cm × 18 cm breast hematoma (). Remarkably, there was no evidence of other concomitant injuries. Due to her consistently labile blood pressures trauma surgery elected to manage the patient operatively. A 1,500-milliliters hematoma was evacuated, consistent with the patient’s state of class III shock. Origin of the bleeding was determined to be an arterial branch within the pectoralis major. The patient was taking aspirin, causing presumed platelet dysfunction, but her coagulation panel was normal.
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pmc-6230367-1
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A 64-year-old male with a history of intravenous drug abuse presented to the emergency department (ED) with left arm pain and swelling for four days. Left upper extremity exam revealed diffuse swelling, erythema and tenderness in the mid-distal forearm. A point-of-care ultrasound (POCUS) was performed to characterize the suspected abscess for incision and drainage; however, imaging revealed a severely enlarged radial artery, suspected to be a pseudoaneurysm with an approximate diameter of 3.71 cm (, ). Computed tomography of the extremity revealed an aneurysmal radial artery (). The patient was transferred to the operating room where the diagnosis was revealed.
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pmc-6230368-1
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A five-year-old male presented to the emergency department (ED) after falling off a stool while brushing his teeth, resulting in a penetrating oropharyngeal injury. The toothbrush was impaled deeply into the left lateral soft palate with only the handle of the toothbrush visible protruding from the mouth. The patient was hemodynamically stable and was comfortable in the arms of his mother after a single dose of fentanyl. A computed tomography angiography (CTA) with three-dimensional reconstructions was performed without sedation, which showed the tip of the toothbrush terminating adjacent to the alveolar and pterygoid branches of the external carotid artery, but with no visible injury to these vessels (). Associated subcutaneous emphysema and muscle edema were also noted. The otorhinolaryngology service was consulted, and the toothbrush was successfully removed in the operating room without complication.
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pmc-6230369-1
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A nine-month-old male presented to the ED with a four-day history of fever and increased work of breathing. He was first seen by his primary care physician with the onset of symptoms. His mother later took him to the ED where he had a fever but no respiratory distress. He was treated symptomatically and discharged with presumptive diagnosis of viral illness. He returned to the ED approximately 12 hours after discharge with abdominal pain and recurrence of his fever. His parents noted that the patient seemed to be in pain and had grunting with expiration. He also had decreased oral intake, but was still making wet diapers.
His parents also reported cyclical periods of crying during which he seemed uncomfortable. They noted that he seemed to be pale with decreased energy and activity from baseline. Mom also reported no bowel movements for the prior 24 hours, with the patient normally having 2–3 bowel movements daily. Parents denied any cough, congestion, wheezing, stridor, vomiting, or rash. He had no past medical history, and his vaccinations were up to date.
On exam the patient had a rectal temperature of 101.5 degrees Fahrenheit, heart rate of 187 beats per minute, respiratory rate of 36 breaths per minute, and oxygen saturation of 99% on room air. He appeared to be developmentally appropriate and in moderate distress with pale skin; he exhibited no cyanosis, rash, or lesions. He had an expiratory grunt with each breath. No cardiac murmur was appreciated and the lungs were clear without wheezes. The abdomen revealed no focal tenderness. Muscle tone was within normal limits. His neurological exam was without focal deficits and age appropriate.
Labs showed a white blood cell count of 17.0 K/microliter (mcL) (normal 6.0–17.5 K/mcL), C-reactive protein of 13.16 milligrams per deciliter (mg/dL) (normal 0–0.80 mg/dL), lactic acid of 1.8 millimoles/L. Urinalysis was unremarkable. The chest radiograph and ultrasound of the abdomen were unremarkable. An electrocardiogram showed sinus tachycardia. Blood cultures were ordered and the patient was started on empiric antibiotics (piperacillin/tazobactam) in discussion with the pediatric hospitalist service. He was admitted for additional evaluation of fever of unknown origin. Blood cultures were initially positive for methicillin-susceptible Staphylococcus aureus (MSSA). An echocardiogram ordered for suspicion of endocarditis was normal. Antibiotics were continued, and the patient improved clinically; however, his parents noted during his hospitalization that he seemed to be in pain when he was picked up, particularly in his axillae.
Repeat blood cultures obtained after antibiotic therapy were negative, and the patient’s fevers were less frequent. He was transitioned to oral cephalexin and observed. On hospital day six, the patient’s mother noted a 2×4 centimeter tender, non-erythematous mass in the right axilla. Formal ultrasound showed a soft tissue mass adjacent to the rib, without a definitive fluid collection (). The patient was transferred to a specialized pediatric hospital where magnetic resonance imaging (MRI) revealed that the axillary mass was consistent with osteomyelitis and subperiosteal abscess of the lateral seventh rib (). The patient had operative debridement and thereafter made a full recovery with discharge home on hospital day 12.
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pmc-6230370-1
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A 51-year-old male weighing 131 kilograms (kg) presented to the emergency department (ED) via ambulance with altered mental status and slurred speech after undergoing cervical epidural injection with two milliliters (mL) of 2% lidocaine (40 milligrams [mg]) under fluoroscopic guidance in an ambulatory setting. He became unresponsive during the injection with subsequent brief convulsive activity for which he was given 2 mg of midazolam. Emergency medical services was called and found him obtunded with shallow breathing and low oxygen saturations requiring ventilation assistance. On arrival to the ED his breathing was spontaneous and erratic with low oxygen saturations. He remained somnolent with slurred speech, unable to answer questions appropriately or follow commands. Preparations were made for intubation given altered mental status and low oxygen saturations; however, oxygen saturations and mental status improved within the first 10 minutes of arrival and ultimately intubation was not required.
On cardiopulmonary monitor he was noted to have an irregularly irregular heart rhythm. Electrocardiogram showed atrial fibrillation with a rate of 82 beats per minute. Hemodynamically he was stable. He converted to normal sinus rhythm 20 minutes later. He reported no history of atrial fibrillation. Within 60 minutes of ED arrival the patient’s mental status was back to baseline without recollection of the events that had occurred after the start of the procedure. He only had chest wall pain, possibly from sternal rub or from any bystander chest compressions that may have been performed when he became unresponsive. Imaging studies obtained included the following: chest radiograph, computed tomography (CT) of the head, CT angiogram of the head and neck, and CT of the chest with intravenous contrast. No pertinent imaging abnormalities were identified. Serum/plasma levels of lidocaine and its primary active metabolite, monoethylglycinexylidide (MEGX) were obtained 15 minutes after patient arrival. Both levels returned undetectable. The patient was observed overnight in the hospital and remained asymptomatic and without any further dysrhythmia. He was discharged home the following day on aspirin 325 mg daily and with a referral to outpatient cardiology.
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pmc-6230371-1
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A 52-year-old woman with multiple comorbidities, including obesity and chronic use of prednisone presumably for pulmonary fibrosis, originally presented to an urgent care center two days prior to presenting to our academic hospital and was prescribed polymyxin for presumed conjunctivitis. The patient then presented to our community campus emergency department (ED) because she felt that her “head is swollen and feels like her throat [is] starting to swell.” She believed she was having an allergic reaction; after using her EpiPen® without resolution, she came to the ED to be treated. On initial exam her vital signs were blood pressure 160/90 millimeters of mercury, pulse 120 beats per minute, temperature of 36.8°C, respiratory rate of 22, and oxygen saturation of 100% on room air. She was noted to have posterior oropharyngeal edema; she was treated for possible anaphylaxis but did not improve. During her work-up it was discovered that she was developing acute vision loss in the right eye. She was transferred to our downtown campus ED for ophthalmological specialty evaluation.
Over the course of a few hours, exam findings progressed to include severe bilateral periorbital swelling and severe chemosis. Repeated extraocular motor tests revealed an initial unilateral ophthalmoplegia that later progressed to bilateral cranial nerves III, IV, and VI palsies. Pupillary light-response exam revealed relative afferent pupillary defects suggesting retinal and/or optic nerve involvement. Her labs were consistent with steroid-induced diabetic ketoacidosis (DKA), white blood cell count 18,400 cells per microliter with 96% neutrophils, and acute kidney injury. Computed tomography (CT) only revealed right proptosis, right periorbital soft tissue swelling, and mucosal thickening within all the paranasal sinuses (); CT was unable to characterize the cavernous sinus without venous contrast phase.
Ophthalmology was consulted and reported a funduscopic exam that revealed retinal pattern consistent with right eye central retinal artery occlusion. Otolaryngology was consulted and performed a nasal endoscopy in the ED, finding soft black crusting on the septum and turbinates bilaterally with positive potassium hydroxide (KOH) preparation. In consideration of the patient’s clinical presentation, this was presumed to be most consistent with necrosis from invasive mucormycosis. The patient was admitted to the medical intensive care unit and was treated with broad-spectrum antimicrobials, including amphotericin B liposome. Surgical debridement was discussed with the patient and family who were informed of a likely chance of mortality regardless of intervention, considering the likely cavernous sinus involvement. The patient declined surgical intervention, choosing comfort care, and died eight days after admission.
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pmc-6230408-1
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A 38-year-old Liberian female with a 12-week gestation presented to the emergency department with a 3-week history of low-grade subjective fever, night sweats, unintentional weight loss, gradually worsening abdominal pain, and intermittent spotting. Vital signs were stable on presentation, physical exam noticeable for gravida abdomen, otherwise unremarkable. Laboratory examination revealed beta hCG 118471, which was otherwise unremarkable. Pelvic ultrasound confirmed a 12-week viable intrauterine pregnancy. The patient was admitted to the hospital for close monitoring. Hospital course was complicated by massive pleural effusion, low-grade fever, progressive worsening abdominal pain, and spontaneous abortion. Non-contrast-enhanced computed tomography of the chest () revealed large right-sided pleural effusion, and contrast-enhanced computed tomography of the abdomen and pelvis () revealed bilateral hilar adenopathy, ascites, thickening and enhancement of the peritoneum, and mottled nodular-appearing soft tissue consistent with omental caking suspicious for peritoneal carcinomatosis. She underwent extensive workup including surgical and oncologist consultations for possible exploratory laparotomy and discussion of treatment options for presumed ovarian neoplasm. Blood work revealed elevated carbohydrate antigen (CA) 125 and positive QuantiFERON-TB Gold, but adenosine deaminase, CA 19, alpha-fetoprotein, and inhibin B were within normal limits. Diagnostic laparoscopy with biopsy revealed significant pelvis ascites and diffuse miliary lesions throughout the peritoneum. She underwent dilatation and curettage; histopathologic examination showed chronic granulomatous inflammation with no evidence of neoplasm. Special stains on tissue sections and ascitic fluid stain revealed rare acid-fast bacilli, suggestive of mycobacterial granulomatous peritonitis. Additional questioning indicated a history of positive PPD skin test a year prior without follow-up treatment. The patient was placed on four-drug anti-tuberculous therapy and had a complete recovery.
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pmc-6230409-1
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A 46-year-old female presented with complaints of fever, breathlessness on minimal exertion, vomiting, abdominal pain, and reduced appetite since 10 days. She also complained of weight loss of 10 kilograms in the last 6 months. She was diagnosed with HIV-1 infection, 1 month prior, and was prescribed tenofovir, lamivudine, and efavirenz fixed-dose combination single-pill regimen. Her baseline CD4 count was 68 cells/mm3, and plasma HIV-1 viral load was 867,000 copies/ml. She had no comorbidities or prior significant medical history. On examination, she was febrile (temperature: 100 degrees Fahrenheit) with pulse (100/min), blood pressure (110/60 mm Hg), and respiratory rate (24/min). Respiratory examination revealed crepitations in bilateral inframammary, infraaxillary, and infrascapular areas. There was diffuse abdominal tenderness but no organomegaly. Rest of the examination including fundoscopy was unremarkable. Hemoglobin was 8.3 g/dl while rest of the biochemical investigations was normal. CD4 count and plasma HIV-1 viral load after 1 month of ART was 190 cells/mm3 and 9,500 copies/ml, respectively, suggesting satisfactory immune reconstitution. The arterial blood gas (ABG) was suggestive of hypoxia (pO2-63 mm Hg) on room air. Chest X-ray was suggestive of bilateral, extensive, and patchy consolidation suggestive of infective etiology (). Sonography of abdomen showed multiple mesenteric nodes with the largest size of 21 mm by 17 mm, grade 2 fatty liver, and dilated portal vein. The CT scan of chest revealed bilateral ground glass haziness suggestive of pneumocystis carinii pneumonia (PCP). CT abdomen showed biliary dilatation due to distal CBD stricture, mesenteric lymphadenopathy and mild diffuse thickening of the caecum, and ascending and transverse colon. 2D echocardiography of the heart was normal. Blood culture was sterile, and serum procalcitonin was normal. Keeping a provisional diagnosis of IRIS to Pneumocystis jirovecii or Mycobacterium tuberculosis in mind, she was started on high-dose trimethoprim-sulphamethoxazole (TMP-SMX), oral steroids, and empirical antitubercular therapy (ATT) in addition to ART. She had diarrhea on admission, which subsided in 2 days after taking loperamide. Stool routine and modified Ziehl–Neelsen (ZN) examination was unremarkable. Due to a suspicion of CMV enterocolitis, she was also started on empirical oral valgancyclovir. Bronchoscopy with BAL was attempted but had to be aborted in view of worsening hypoxia during procedure. For establishing diagnosis, upper GI endoscopy and colonoscopy were attempted. Upper GI endoscopy revealed diffuse gastroduodenitis. Colonoscopy showed patchy colitis. Duodenal biopsy revealed focal blunting, ulceration, and neutrophilic exudates (). The surface epithelium showed several eggs, larvae, and adult forms of S. stercoralis (). Lamina propria showed moderate mononuclear inflammatory infiltrate with lymphoid follicle formation and many admixed eosinophils (Figures and ). There was no evidence of tuberculosis or malignancy. Induced sputum also demonstrated larvae of S. stercoralis. As a result, diagnosis of SHS as a manifestation of IRIS was made, and she was started on an oral combination of albendazole (400 mg twice a day) and ivermectin (200 µg/kg). Inspite of antihelminthic treatment, her dyspnea worsened. Her repeat ABG showed hypoxia (PO2 –47 mm Hg, Spo2 89%) and respiratory alkalosis. She developed hypotension (blood pressure 80/60 mm Hg) and altered sensorium in the form of increasing drowsiness (Glasgow Coma Scale 12/15). She was shifted to the Intensive Care Unit (ICU) for the same. MRI brain and CSF examination were normal while serum sodium level had dropped to 125 mEq/L. Noradrenaline infusion and noninvasive BIPAP ventilation were started. She was initiated on intravenous (i.v.) meropenem, i.v. teicoplanin, and i.v. fluconazole in addition to antihelminthic agents, steroids (in tapering doses), and ART. ATT and valganciclovir were withdrawn while TMP-SMX was reduced to prophylactic dose. She gradually started improving over the next 7 days with improvement in sensorium and reduction in breathlessness. She was shifted out of the ICU by day 21 of admission. Her CXR showed complete resolution of pneumonic consolidation. She was discharged on oral antihelminthic treatment which she continued for another 8 weeks. Follow-up endoscopy studies showed complete clearance of S. stercoralis.
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pmc-6230410-1
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A 70-year-old female presented to the clinic reporting a three-year history of progressive symptoms initially with increased salivation, followed by slurred speech and dysphagia as well as macroglossia and hypogeusia. During further questioning, she reported a frequent “choking sensation” while eating and food regurgitations. She also noticed progressive lower extremity weakness over the same duration but denied falls or gait instability. She denied dysgeusia, odynophagia, anosmia, diplopia, bowel or bladder incontinence, or other neurological symptoms.
Her past medical history was significant for gastroesophageal reflux disease controlled with omeprazole, right breast adenocarcinoma without sentinel lymph node involvement, status after mastectomy treated with tamoxifen, and idiopathic right hemidiaphragmatic paralysis diagnosed 25 years ago. Prior surgical history apart from mastectomy was significant for a sacral colpopexy, hysterectomy, and right carpal tunnel release.
She was initially evaluated by her primary care physician; initial testing included a magnetic resonance imaging (MRI) scan of the brain done to rule out a cerebrovascular event which was negative for vascular abnormalities or ischemia. Due to the progressive nature of macroglossia, lower extremity weakness, and dysphagia, clinicians initially suspected myasthenia gravis. On further evaluations, acetylcholine receptor-binding antibodies were negative, and the patient did not improve after a trial of pyridostigmine and intravenous immunoglobulin. She also underwent a lumbar puncture, yielding normal results.
The patient continued to undergo multiple procedures, all nondiagnostic until she presented to our institution. At that time, her symptoms continued to worsen, significantly affecting her quality of life and causing weight loss due to the inability to move the food bolus forward due to the size of her tongue. On physical exam, no neuromuscular abnormalities were observed. The cranial nerves examination was significant for moderate-to-severe tongue weakness with tongue deviation to the right and associated macroglossia. Motor examination revealed normal strength of the neck flexors and extensors, mild-to-moderate weakness of the external rotators of the upper extremities and pectoral muscles bilaterally, mild weakness of the deltoid and biceps bilaterally with spared triceps and brachioradialis, and mild weakness of interossei and hypothenar bilaterally with spared thenar muscles. In the lower extremities, she had moderate weakness of the iliopsoas, moderate-to-severe weakness of the gluteus medius bilaterally (right weaker than left), and normal strength of the quadriceps, hamstrings, calf, and tibialis anterior bilaterally. She was able to get up from the chair without support. She had an asymmetric, waddling gait and was able to walk on toes. Tendon reflexes were normal with the exception of decreased ankle reflexes, +1 when +2 being normal. She had no clinical myotonia.
She was initially seen by neurology; an electromyogram revealed a myotonic myopathy with electrophysiological features supportive of inflammation, fiber splitting, vacuolization, and/or myonecrosis. These findings in conjunction with macroglossia were thought to be secondary to amyloid or other inflammatory myopathy.
Laboratory evaluation revealed normal complete blood counts and differential, ferritin, folate, and vitamin B12 levels in serum. Immunophenotype of the plasma cells did not reveal any monoclonality, and serum and urine electrophoresis with immunofixation failed to reveal any monoclonal disease or abnormalities associated with free light chains. The electrolyte panel was also within the normal limit with a creatinine clearance of 96 mL/min. The liver function test was within normal limits. Muscle enzymes were evaluated, and they revealed an increased creatinine kinase at 242 (normal: 38–176 U/L), lactate dehydrogenase at 297 (normal: 122–222 U/L), and aldolase level at 8.5 (normal: <7.7 U/L). Beta-2-microglobulin was within normal limits.
Due to history of breast cancer and with the goal of ruling any structural abnormalities, the patient underwent computed tomography (CT) and MRI of the head and neck which were notable for a soft tissue nodule at the base of the tongue and diffusely infiltrated fat signaling in the tongue as well as age-related atrophy of the cerebral white matter. The pulmonary function test showed mild-to-moderate restriction and reduced total lung capacity. Overnight pulse oximetry showed a gas exchange abnormality as well as significant sleep-disordered breathing. Echocardiogram revealed no evidence of cardiac amyloid and normal left ventricular chamber size and interventricular septum with an ejection fraction of 66%.
After evaluation by hematology and otolaryngology, the decision was to proceed with a tongue biopsy which revealed hyperplastic changes with features suggestive of degeneration of the underlying skeletal muscle. This was negative for amyloid deposition. A pectoralis muscle biopsy showed increased acid phosphatase in many of the vacuolated fibers suggestive of a vacuolar myopathy, most consistent with acid maltase deficiency (Figures and ). Some structurally abnormal fibers had increased PAS-positive material. Congo red stained sections revealed no congophilic deposits. Abdominal fat aspirate was negative for amyloid deposition.
Due to the findings of the electromyogram (EMG) and pectoralis muscle biopsy blended with the clinical presentation, acid alpha-glucosidase activity in blood was evaluated, and it was revealed to be 0.0 (normal: >0.5 nmol/h/mL). Bone marrow biopsy was done to further evaluate any evidence of amyloidosis or other hematologic diseases and showed normocellular bone marrow with morphologically normal trilineage hematopoiesis. Focal amyloid deposition in the periosteum was identified, and liquid chromatography and tandem mass spectrometry revealed the amyloid to be transthyretin without amino acid sequence abnormality suggestive of age-related transthyretin amyloidosis (senile systemic amyloidosis).
The diagnosis of wild-type transthyretin amyloidosis by itself could not explain her entire clinical presentation and evaluations and prompted further clinical evaluations. Given the lack of acid alpha-glucosidase activity in blood, coupled with EMG and pectoralis muscle biopsy findings, and clinical signs and symptoms of lower extremity weakness, dysphagia, macroglossia, abnormal pulmonary function test, abnormal overnight oximetry, and elevated muscle enzymes suggested a diagnosis of glycogen storage disease. Hence, a DNA analysis of the white blood cells was done which showed heterozygote alteration of c.-32–13T>G (g.78078341) and c.1841C>A (g.78086463) genetic alteration causing to have Thr614Lys amino acid alteration, which is a pathogenic mutation that is typically associated with late-onset Pompe disease []. After confirming the genetic analysis, a diagnosis of adult-onset Pompe disease was made.
Since the patient's liver function was intact and amyloid deposition was only evident in the bone marrow with wild-type transthyretin deposition, the decision was to monitor for wild-type transthyretin amyloidosis without any treatment. For her late-onset Pompe disease, she was started on enzyme replacement therapy with biweekly intravenous alpha-glucosidase (20 mg/kg). After 8 months of follow-up, the patient reported that her dysphagia, slurred speech, lower extremity weakness, and walking distance have considerably improved as well as her general well-being. Her macroglossia remained unchanged, and her amyloidosis continues to be monitored by a local hematologist.
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pmc-6230411-1
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The first patient is a 34-year-old Bahraini gentleman who was not known to have any medical illness. He had been well until February 2011 when he developed progressive back pain that radiated to his chest wall and upper abdomen associated with significant weight loss. His system review was unremarkable. His past medical history was negative for previous surgeries or medications intake. Socially, he is married and has one daughter. He works as a machine operator in aluminum plant. He smokes one pack of cigarettes daily since age 14. He denied alcohol drinking and illicit drug use. Family history was negative for malignancies and autoimmune diseases.
His laboratory workup including baseline autoimmune workup came back as negative.
Radiographic workup revealed a soft tissue paravertebral mass extending from the T7 till L1 (). In April 2011, he underwent left thoracotomy with subtotal resection of the mass. Histopathology showed inflammatory myofibroblastic tumor with reactive lymph nodes. Postoperative PET-CT showed significant residual disease and two hypermetabolic lesions at left pleura and retrocrural tissue.
Since the patient did not improve, he was sent abroad for further evaluation. The pathology slides were reviewed again abroad. Due to presence of sclerosing fibrosis () and obliterative phlebitis (), IgG4 immunostaining was performed, and it showed moderate numbers of IgG4 plasma cells with a IgG4/IgG plasma cell ratio of >40.
Based on the biopsy findings, he was diagnosed to have idiopathic retroperitoneal fibrosis and IgG4-related disease. He was started on prednisolone and oral cyclophosphamide for 3 months and then maintained on mycophenolate mofetil. In 2015 and 2016, repeated imaging showed disease progression and development of mild bilateral hydronephrosis (Figures –). Therefore, rituximab was given which resulted in significant improvement. His IgG4-level after treatment is 0.604 mg/dl.
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pmc-6230411-2
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A 65-year-old Bahraini female who is a known case of diabetes mellitus, hypertension, and hypothyroid on medical management was doing fine till May/June 2016 when she developed multiple complaints of feeling numbness in the mouth, disrupted sweating over the left side of the face, difficulty in swallowing and clearing mouth secretions, severe intermittent left-sided headaches and facial pain, and multiple episodes of fainting.
Upon close observations of the fainting episodes while being hospitalized, she was found to have sudden loss of consciousness associated with severe sinus bradycardia, sinus pauses, nodal rhythm or complete heart block on some occasions, and hypotension. These episodes were responding to atropine and intravenous fluids. However, later, it got worse, and a pacemaker was inserted.
Upon examination, she was found to have features of Horner's syndrome on the left side of the face, deviation of the tongue to the left side representing left 12th cranial nerve palsy, and a mass observed on the left side of the hard palate. She also had a lobulated, nonmobile mass with smooth margins felt along the left angle of the jaw most likely originating from the left parotid gland.
Her laboratory workup and baseline autoimmune workup including anti-nuclear antibodies (ANAs), extractable nuclear antigens (ENA profile), cytoplasmic anti-neutrophil cytoplasmic antibodies (c-ANCA), and perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA) came back as negative. Her inflammatory markers such as erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were low except at times of infection.
The computed tomography scan (CT) and magnetic resonance imaging (MRI) head and neck were done, and they are shown in Figures –:A multilobulated mass within the left parotid gland extending into the deep lobe A similar lesion in the left carotid sheath extending to the base of the skull with anterior extension into the parapharyngeal and pharyngeal mucosal space and the soft palate Cervical lymphadenopathy Involvement of the left 12th cranial nerve at the base of the skull
The positron emission tomography-computed tomography scan (PET-CT) was also performed, and it showed a hypermetabolic soft tissue lesion with a size of 4 cm by 2.3 cm.
Therefore, multiple biopsies (transoral and transcutaneous from multiple sites) were taken from the mass. Histopathology showed sclerosing infiltrative inflammatory pseudotumor, with significant positive staining for IgG4 plasma cells.
Based on the characteristic biopsy findings, she was diagnosed to have IgG4-related disease.
After receiving high-dose steroids followed by rituximab therapy, she had significant improvement and repeated PET-CT after 4 weeks showed significant improvement (Figures and ). However, unfortunately she lost follow-up and rituximab was stopped by another center.
In February 2017, her symptoms recurred but worse. She became aphasic and was unable to swallow for which she required feeding gastrostomy tube. She went abroad for a second opinion. Her new imaging showed recurrence of the mass. Her pathological slides were reviewed again and diagnosed to have non-Hodgkin's lymphoma like lesion. She was treated with proton therapy form March till May 2017 without significant improvement ().
In August 2017, she presented to our hospital with complaints of dizziness and generalized weakness, and then her level of consciousness deteriorated to the level that she required intubation to maintain her airway. Her initial CT brain with contrast was reported as multiple metastatic brain deposits in leptomeninges, suprasellar, and fourth ventricle. So, she was admitted with impression of multiple brain metastasis for evaluation under care of the oncology team.
MRI brain was performed on 29/8/2017 (Figures –). It showed extensive diffuse irregular-lobulated subependymal lesions with restricted diffusion and significant enhancement. Considering the previous medical history of the patient, rheumatology and neurology teams were consulted.
After extensive investigations and taking the whole clinical picture and initial biopsy results into consideration, she was diagnosed as a case of relapse of IgG4-related disease with CNS involvement. Therefore, she was started on high-dose pulse steroid (methylprednisolone) followed by high-dose oral prednisolone and rituximab therapy.
Follow-up MRI brain was done on 5/10/2017 (Figures and ). It showed good response to treatment with significant regression in previously seen extensive subependymal enhancing lesions with regression in white matter edema. Stable slightly prominent pachymeninges were found. Her IgG4 level was 14.2 mg/dl.
Unfortunately, due to prolonged hospital stay, she suffered from repeated severe, difficult to eradicate health care-associated infections resulting in her death after around 3 months of the admission.
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pmc-6230411-3
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Case 3 is about a 32 year-old Bahraini female. In 1999 (15 years old), she started to have gradual protrusion of both eyes and persistent upper respiratory tract symptoms. Due to the cosmetic effect of the protruding eyes, she was taken to an ophthalmologist by her parents who attributed her symptoms to chronic sinusitis and referred her to an ENT specialist. CT sinuses showed polypoidal masses in all the sinuses. Biopsy showed inflammatory nasal polyps. She was treated with systemic steroids which improved her symptoms significantly and reduced her proptosis. However, once the steroids were tapered, she would flare up again. She also underwent functional endoscopic sinus surgery (FESS) several times to control her condition.
In 2006 (22 years old), she developed bronchial asthma which was also difficult to control. In 2010 (26 years old), she started to complain of sicca symptoms along with bilateral parotid gland swelling which was investigated by MRI and biopsy. MRI neck and orbits showed the following: bilateral lacrimal glands swelling and enhancement, bilateral parotid and submandibular glands enlargement, multiple intraparotid lymphadenopathy, cervical lymphadenopathy and features of sinusitis (Figures –). Differential diagnosis was kept as possible (Sjögren's syndrome, lymphoma, and sarcoidosis). Parotid gland fine-needle aspiration (FNA) was taken, and it showed reactive lymphoid hyperplasia. No granuloma was found. All serology workup including anti-nuclear antibodies (ANAs), extractable nuclear antigens (ENA profile), cytoplasmic anti-neutrophil cytoplasmic antibodies (c-ANCA), perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA), rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP), and angiotensin converting enzyme (ACE) level came back as negative. Flow cytometry of fine-needle aspiration (FNA) did not show evidence of lymphoma.
In 2014, the patient decided to go abroad for a second opinion. She underwent parotid gland biopsy and it showed chronic sialadenitis. She was diagnosed to have Mikulicz syndrome and started on steroid and azathioprine. Repeated MRI showed significant response to therapy (Figures and ).
After 2 years of lost follow-up, she was assessed again when she was admitted for child delivery. Her parotid gland biopsy was reviewed again. It showed patchy dense lymphoplasmacytic infiltrate () with occasional clusters of plasma cells. These plasma cells were mostly positive for IgG4 immunostain () with 10–20 cells per high-power field. No phlebitis was seen. Features were compatible with IgG4-related disease. Serum IgG4 was checked, and it was elevated (3.4 g/L (340 mg/dl)). Therefore, she was diagnosed to have IgG4-related disease. MRI head and neck was repeated on 8/2/2017 (Figures and ) and showed increase in enlargement of bilateral lacrimal glands, submandibular glands, parotid glands with intraparotid nodes, and cervical lymph nodes by size and numbers. There was also increase in mucosal thickening involving all paranasal sinuses.
Since she is having suboptimal response to azathioprine, rituximab was decided but elected to be postponed by the patient due to fears related to breastfeeding.
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pmc-6230411-4
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A 46-year-old Bahraini female diagnosed as premature ovarian failure at the age of 29 years treated with hormonal replacement therapy presented with a history of epigastric abdominal pain and vomiting at the age of 37 years. Biochemical and radiological assessment showed features of acute pancreatitis in terms of elevated pancreatic enzyme level, and CT abdomen finding showed edematous pancreas with normal ductal system. It was attributed to hormonal replacement therapy after thorough investigation. Although the patient had stopped the implicated medications, she still had recurrent attacks of acute pancreatitis.
Since there was no obvious cause found for her recurrent episodes of pancreatitis, autoimmune pancreatitis was suspected.
Then, she underwent endoscopic ultrasound in 2015 which revealed mass swelling at the duodenal ampulla, and biopsy was taken. The biopsy showed ampullary adenoma with high-grade dysplasia (Figures and ).
Then, the patient decided to go abroad for further assessment where she underwent Whipple's procedure and histopathology confirmed the presence of ampullary adenoma with high-grade dysplasia.
Unfortunately, she continued to have recurrent episodes of pancreatitis despite the removal of the ampullary adenoma.
In 2016, while she was admitted under care of a surgical team for another episode of pancreatitis, she was reviewed by the rheumatology team to rule out autoimmune condition. Therefore, IgG4 level was tested (1.49 g/L (149 mg/dl)). The biopsy was reassessed and found to have increased IgG4-positive plasma cells around 30–40 per high-power field with the background of adenoma with high-grade dysplasia. Accordingly, she was diagnosed to have both IgG4-related disease and ampullary adenoma.
She was started on oral prednisolone 0.5 mg/kg and rituximab therapy with significant improvement over 1 year of follow-up as the pancreatitis attacks have reduced from around once in every month to around once in every 3 to 4 months after 3 months of rituximab therapy, and currently she remained attack free for around one year.
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pmc-6230413-1
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A 51-year-old Asian lady with no surgical history presented to the emergency room with two days of emesis and abdominal pain. She had been experiencing intermittent abdominal pain for a year, but her symptoms acutely worsened after eating a seaweed salad. Initial computed tomography (CT) scan showed a SBO with transition point in the jejunum () and multiple nonspecific ill-defined liver lesions (), worrisome for a malignant obstruction with liver metastases. Tumor biomarkers alpha-fetoprotein (AFP) and carcinoembryonic antigen (CEA) were checked and found to be negative. Repeat CT scan at the time of a planned CT-guided liver biopsy showed the absence of the previous liver lesions, now known to be artifactual (). The SBO persisted, so the decision was made to intervene surgically. Diagnostic laparoscopy showed a dilated proximal jejunum with no adhesions (). The bowel was edematous, friable, and difficult to maneuver, so we converted to a small laparotomy. The involved segment's consistency was soft and suspicious for a bezoar. An enterotomy was made and revealed a copious amount of obstructing seaweed (). A distal stricture was palpated, and the involved segment was resected. Intraoperative liver ultrasound was negative. There were no complications, and the patient was discharged home four days later. Final pathology revealed benign small intestine with a mild benign stricture.
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pmc-6230416-1
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A 60-year-old female presented to the outpatient cardiology clinic for evaluation of worsening chronic hypertension for which she had been on hydrochlorothiazide/Valsartan for 10 years. Her systolic blood pressure exceeded 200 mmHg in the office, and aggressive medical therapy was initiated in the outpatient setting. She returned to the emergency department the following day with headache and malaise and systolic blood pressure above 200 mmHg for which she was treated and discharged.
She returned to the emergency department again 5 days later, this time with complaints of word finding difficulty, blurred vision, and lower extremity tingling. Her blood pressure on presentation was 216/81 mmHg. She was admitted, and workup demonstrated no acute intracranial process or carotid stenosis. Echocardiography revealed mild concentric left ventricular hypertrophy with a preserved ejection fraction. Her blood pressure continued to be refractory to medical therapy despite five antihypertensive agents and eventual initiation of an esmolol infusion. A renal artery ultrasound identified renal artery stenosis with flow at the arterial origin measuring 350 cm/s on the right and 208 cm/s on the left (); flow velocity in the supraceliac aorta was also noted to be elevated. She had no history of kidney disease and no elevation of her creatinine. Vascular surgery was consulted and a history of lower extremity claudication was elicited. On exam she had weak but palpable femoral pulses and an audible abdominal aortic bruit; ankle-brachial index measurements were deferred and the patient was scheduled for angiogram.
The patient underwent aortography the following day and on selective angiography the renal arteries were found to be widely patent. Significant stenosis was identified at the distal thoracic aorta extending into the abdominal aorta but terminating proximal to the celiac trunk. The degree of stenosis was deemed to be greater than 90% and a pressure gradient between the upper extremity and intra-aortic measurements exceeded 100 mmHg. CTA was subsequently performed to evaluate the extent of the lesion and confirmed a stenosis 1.3 cm proximal to the celiac origin measuring 5 mm at its narrowest point (Figures and ). The patient underwent arteriogram; the stenosis was successfully navigated and a Protege 14 × 40 x 12 mm nitinol stent (Medtronic Vascular, Santa Rosa CA) was delivered followed by a 10 mm postdilation balloon. A completion arteriogram demonstrated excellent flow across the stent.
After stenting, the patients' systolic blood pressure was 140-160 mmHg, and she experienced resolution of her lower extremity claudication. She was discharged from the hospital on Aspirin and Plavix and a blood pressure regimen consisting of lisinopril, hydralazine, amlodipine, and carvedilol.
She was lost to follow-up until two years later when she returned to the hospital with a blood pressure of 220/85 mmHg, with complaints of chest discomfort. CTA demonstrated stenosis in the distal portion of the aortic stent. An angiogram was performed, and the stent was ballooned to 12 mm. Pressure gradient measurements taken before and after dilatation decreased from 60 mmHg to 20 mmHg. On follow-up one year later, she continued to experience excellent blood pressure control.
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pmc-6230418-1
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A 67-year-old Caucasian male presented with recurrent episodes of amaurosis fugax, sharp pain in both temples, masticatory claudication, intermitting paresis of the right arm, and a positive right-sided Babinski sign. ESR was 93 mm/1st hour, C-reactive protein was elevated up to 14.18 mg/dl, and fibrinogen was 1062 mg/dl. The diagnosis of giant cell arteritis was established. Additionally, the patient suffered from arterial hypertension, type 2 diabetes mellitus, hypercholesterinaemia, coronary heart disease, and paroxysmal atrial fibrillation.
The patient received a structural MRI scan with a 3T whole-body system (Verio, Siemens Medical 22 AG, Erlangen, Germany) and a 12-channel reception head coil. MRI angiography revealed short high-grade stenosis of the right vertebral artery (VA) in the V3 segment (), a hypoplastic left VA, and a patent posterior communicating artery on the right side. The C6 and C7 segments of the left internal carotid artery (ICA) also showed high-grade stenosis (). On a follow-up MRA three weeks later especially the stenosis in the left ICA was longer, but also the stenosis of the right VA (). The walls of both ICA (), the left temporal artery (TA), and the right VA () were thickened with contrast enhancement, so were the walls of the superficial temporal arteries (). In addition, a left-sided pontine infarct was present. Proton emission tomography computed tomography (PET-CT) found no involvement of other noncranial vessels. The diagnosis was based on the 1990 ACR criteria, in which the presence of three out of five points results in a sensitivity of 93.5 % and a specificity of 91.9 % []. Even though a halo sign was not seen in color Doppler ultrasound we did not perform a temporal artery biopsy due to the vascular high-risk situation with the need of pronounced antithrombotic therapy. When we retrospectively applied the revised 2016 criteria of the ACR (Sait et al. 2017) for the diagnosis of GCA, we would still confirm the diagnosis with at least four points (three of those in Domain I).
The patient was treated with high-dose corticosteroids as well as acetylsalicylic acid. Within two days, his symptoms had resolved. ESR slowed down to 23 mm/1st hour.
16 days after his first presentation, the patient suffered a new onset of acute aphasia and right-sided facial palsy. In the following days, neurological symptoms fluctuated from mild aphasia to severe aphasia, which could not be stabilised by moderate hypertension, dual antiplatelets, or anticoagulation. A brain MRI revealed a new infarct in the left basal ganglia and the left centrum semiovale. The left ICA stenosis had become more pronounced and extensive compared to the initial MRI, with the C5 segment now involved as well. PWI showed that the MTT, but none of the other perfusion parameters, was inhomogeneously prolonged in the left middle cerebral artery (MCA) territory and in both posterior cerebral artery (PCA) territories (see ). Additionally to these sequences, a 31P MRS sequence was acquired, with an acquisition time of 10:44, a repetition time of 2000 ms and an echo time of 2.3 ms. The volume of interest was gained with an extrapolated 16 x 16 x 8 matrix and a field of view of 240 x 240 x 200 mm3, resulting in a voxel size of 15 x 15 x 25 mm3. For its acquisition the patient had to sit up briefly and the head coil was changed to a double-tuned 1H/31P volume head coil (Rapid 23 Biomedical, Würzburg, Germany). 31P-MRS data was postprocessed offline with the software package jMRUI version 5.0 (current stable version 5.4 available at ), utilizing prior knowledge for the nonlinear least square fitting algorithm AMARES []. The fitting model was composed of 15 Lorentzian-shaped exponentially decaying sinusoids; however, for this patient only the calculation of the metabolite ratio of Pi/PCr was taken into account, as this ratio can be seen as a marker for the energy reserve []. 31P MRS revealed a decreased Pi/PCr ratio () in both PCA and central left MCA territories in areas which showed a moderately prolonged (3.432 sec) but shorter MTT (, ) than surrounding areas (3.776 sec, reference value contralateral MCA territory = 3.279 sec). However the adjacent area showed a higher Pi/PCr ratio than the contralateral MCA territory ().
The therapeutic consequences were an increase of the corticosteroid dosage and initiation of an interleukin-6 receptor blocker therapy. Due to the fluctuating neurological symptoms—with large mismatches between areas with prolonged MTT and the clinical presentation—various potential interventional strategies were discussed. Angioplasty of the left ICA was deemed to be higher risk, because the affected intradural segments were very elongated. With the intention to improve the perfusion of the ACM territory via the posterior communicating artery, the high-grade stenosis in the V3 segment of the right vertebral artery was corrected via balloon angioplasty and stenting (). The intervention was successful, and the aphasia improved rapidly. Follow-up MRI revealed an improved perfusion in parts of the left MCA and both PCA territories. The Pi/PCr ratio in the MCA territory was higher than in the first scan and higher than in the contralateral hemisphere (). 31P MRS showed a newly decreased Pi/PCr ratio in the border area between MCA and PCA territories and the insular cortex of the left side (; ), again in an area with a moderately increased MTT (3.462 sec), which was shorter than in the ventral adjacent MCA territory (3.962 sec; ).
After two months, all mentioned stenoses improved and further clinical improvement was observed. Only a slight aphasia persisted. The corticosteroid dose was able to be reduced to a maintenance level.
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pmc-6230424-1
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Patient permission was procured for reporting this clinical case.
A 30-year-old male patient was admitted to our emergency department with an open fracture of the right ankle. The injury had been a consequence of a crush caused by a fallen freezer. This led to an ankle fracture displacement with disruption of the syndesmosis, trauma to soft tissues and skin, and displacement of the distal end of the tibia through the skin (Figures and ). The three-dimensional CT scanning reconstruction demonstrated displacement of the tibia and wedging of the talus into the distal tibiofibular joint (). The injury was rated as Gustilo IIIB type of open fracture [, ]. The lateral radiograph of the right shin and foot revealed anterior dislocation of the talus (). Furthermore, a fracture of one of the shin bones just distal of the knee joint was also observed (). The anteroposterior radiographs of the right shin and knee joint demonstrated fracture dislocation of the right medial malleolus () and fracture dislocation of the proximal third of the fibula (Figures and ). The spiral fracture of the proximal fibula approximated the fractures known as Maisonneuve fractures. Furthermore, the “wedging” of the talus in the ankle syndesmosis () was seen as well. According to the AO-OTA fracture and dislocation classification ( and []), this patient's diagnosis was categorized as AO-OTA 44B3 and 44C3.
Emergency surgery began 6 hours after the injury with total debridement, ankle reduction, and suturing. Fracture dislocation of the right medial malleolus was fixed with two cannulated compression screws (), while the syndesmosis was supported by two cannulated compression screws (Figures –). The right anterior talofibular ligament was repaired using a suture anchor (). A right-side calcaneofibular ligament neoplasty was done as well. After reduction, the proximal fibular fraction did not require treatment beyond immobilization.
Weight-bearing restrictions were applied for the first 3 months posttreatment. Follow-up visits took place 3 and 12 months following the surgery. The 3-month follow-up visit confirmed the healing of the right syndesmosis, and the anteroposterior and lateral radiograph images showed that these fractures' and dislocations' healing process was good (Figures –); the screw fixation supporting the right ankle syndesmosis was removed (Figures and ). At the 12-month follow-up visit after surgery, the radiography examination demonstrated that fractures and dislocations were restored well and healed (). Furthermore, rehabilitation of the right ankle function also commenced. While not all sequelae of the ankle fracture disappeared, as, for example, astragalus contusion was still evident, the good functions and satisfied gesture of walking were restored (), and the overall outcome was improving after 1-year follow-up. Specifically, the AOFAS Ankle-Hindfoot Scale gradually improved from 40 at one month to 59 at two months to 71 at three months posttreatment, which is comparable to scores observed on follow-up by previous studies [, ]. The functionality of the right ankle was restored to a greater degree at the three-month mark (). No posttreatment complications reported in previous publications [, ] (also discussed below) were present in our patient.
Subsequent to treatment and follow-up of this patient, we wished to conduct a systematic review of the literature published on this fracture. The objective for this literature review was a comparison of the clinical picture and applied treatment between our patient and published reports.
We searched two electronic databases (MEDLINE via PubMed and Ovid, and Embase) using the following keywords: “Logsplitter,” “high-energy,” “ankle injuries,” “ankle fractures,” “fracture dislocation,” and “transsyndesmotic” and Boolean operators “AND”/“OR.” The literature search was limited to publications in the past 10 years but not limited to a particular language.
From the 3065 publications found using the aforementioned keywords, only 31 were found suitable after title screening (). The abstract and full-text reading of the selected 31 publications narrowed down the database to the two publications that we had previously known and which are cited throughout this case report [, ]. Thereby, to the best of our knowledge, ours is the third presentation on the high-energy transsyndesmotic ankle translocation fracture.
The first of the two suitable publications was a Chinese study (Wang and coauthors []). This study retrospectively evaluated a patient registry. The authors of this study selected 41 suitable patients, whose data were separated based on the authors' classification into a typical or atypical high-energy transsyndesmotic ankle translocation fracture. The former was caused by, chiefly, vertical axis stress, whereas the latter was a consequence of rotational stress.
The second publication was an American study (Bible and coauthors []). The authors enrolled the total of 23 patients. The study design was a prospective cohort study.
Interestingly, these studies provided descriptions of high-energy transsyndesmotic ankle translocation fractures in the majority of patients (extrusion of the distal tibia, medial malleolus fracture, Volkmann's fracture, etc.; and [, ]) very similar to the injury sustained by our patient. Furthermore, the treatment applied by these authors and us were also very similar ( and [, ]) and involved an application of one or two syndesmotic screws (> 65%; and [, ]) and medial malleolus fixation (> 65%; and [, ]). The most common posttreatment complications were infections ( and [, ]), fracture nonunion, and posttraumatic ankle arthritis ( and [, ]). Among serious complications reported by both publication was one case of a below-knee amputation for recurrent infection []. This makes the incidence of 4.3% for this study []. Given that the combined patient number is 64 (41 patients in the publication by Wang et al. [] and 23 patients in the publication by Bible et al. []), the incidence in relation to the combined number is ~1.6%.
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pmc-6230425-1
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A 64-year-old lady was referred to the Gastroenterology Clinic for Colonoscopy. She presented with a history of altered bowel habit and iron deficiency anemia. There was no history of abdominal pain, bleeding, or constitutional symptoms. Her past medical and surgical history was unremarkable except for newly diagnosed diabetes. There was no family history of inflammatory bowel disease or gastrointestinal malignancy. Examination revealed an overweight patient but was otherwise noncontributory. Blood tests confirmed iron deficiency anemia.
Colonoscopy showed a large friable pedunculated polyp (Paris 1p) approximately 3 cm in size in the transverse colon (). The polyp was excised en bloc in its entirety with snare cautery and retrieved with a retrieval net ().
Histopathology examination revealed a polyp partially covered by colonic mucosa with areas of erosions and granulation tissue formation. The body of the polyp was composed of hyperplastic lymphoid tissue with multiple enlarged lymphoid follicles and prominent germinal centers. These lymphoid follicles were well-spaced and variably sized and shaped (Figures and ), and their germinal centers contained typical heterogeneous lymphoid population including tingible body macrophages. CD20 and CD3 immunostains reveal the typical distribution of B-lymphocytes in the follicles and T-lymphocytes in the intervening zones among the follicles, respectively. The overall appearance is reminiscent of nodal follicular hyperplasia, favoring a benign etiology for the polyp; this was confirmed by immunohistochemistry.
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pmc-6230428-1
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A 65-year-old woman with untreated diabetes visited our emergency department for a one-day history of lower abdominal pain. Abdominal findings showed diffuse peritonitis. Computed tomography showed edema of the small intestine and bladder wall. Perforation of the appendix, alimental tract, or urinary tract was suspected; thus, emergency surgery was performed. Although there were purulent ascites, remarkable redness, and edema of both the small intestine and bladder wall throughout the lower abdominal cavity, there was no perforation of the gastrointestinal or urinary tract (). Intraoperative Gram staining of purulent ascites in the abdominal cavity showed the presence of Gram-positive cocci. Based on these findings, idiopathic peritonitis was initially suspected; thus, only irrigation and drainage were performed to complete the surgery. Although a part of the patient's left lower leg appeared slightly red in the operating room, we mistakenly assumed that the presence of mild phlegmonous changes was not associated with the abdominal cavity findings. Postoperative monitoring of vital signs indicated that the patient was going into shock with respiratory failure and acidemia progression due to anuria despite administration of an inotropic agent and high-volume infusion of colloidal fluid. The maximum sequential organ failure assessment (SOFA) score was 10 points; thus, mechanical ventilation and carbapenem administration were initiated. Continuous hemodiafiltration (CHDF) was also necessary for renal support along with cytokine regulation due to prolonged anuria and acidemia. Infection and necrosis of the leg were gradually becoming more evident and severe (Figures and ). Therefore, a diagnosis of NF was made.
Group A streptococcus (GAS) was detected in the ascites, blood culture, and purulent effusion from the left leg. Based on the above findings, the patient was diagnosed with STSS. The antibiotic regimen was changed to high-dose penicillin G and clindamycin to target the bacterial infection. Immunoglobulin was also administered. In addition, repeated debridement () and skin grafting were performed. These aggressive therapeutic interventions gradually improved her general condition and the NF of her leg. She was discharged 6 months after hospitalization and is alive with well-controlled diabetes and with chronic hemodialysis at 7 years after this clinical course.
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pmc-6230454-1
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A 40-year-old obese African American female was brought in an unconscious state to the emergency department (ED) of Allegheny General Hospital, USA, in August 2017. Patient was received at her home in a cardiac arrest state by the emergency medical services (EMS) which prompted them to do CPR (cardiopulmonary resuscitation) on her.
With 35 minutes of CPR, spontaneous circulation was restored and then she was transferred to the hospital. On presentation, she was hypotensive, intubated, nonresponsive to noxious stimuli and had minimally reactive pupils. On further inquiry, it was found out that the patient had been ingesting Epsom salt for quite some time, apparently, to lose weight (and might have had over-ambitiously taken a large dose that day). Patient did not have any history of drug abuse or any findings suggestive of physical trauma. Differential diagnosis of acute coronary syndrome) (ACS), stroke and toxic ingestion of magnesium sulfate was contemplated. Initial blood work up revealed hypermagnesemia (9.7 mg/dL), lactic acidosis (AG metabolic acidosis), mild elevation of liver enzymes and negative urinary drug screen. 12 Lead ECG ruled out possibility of ACS, and a normal sinus rhythm with a prolonged QT (non-diagnostic for ischemia) was noted. The patient was then transferred to the ED of our hospital.
Her glasgow coma scale (GCS)at the time of presentation was 3 and ECG revealed normal sinus rhythm with first degree atrioventricular (AV) block (PR interval=220 milliseconds), QRS interval of 120 milliseconds and nonspecific intraventricular block. Brain CT scan was unremarkable for any acute intracranial process and it effectively ruled out the possibility of stroke. Despite high blood magnesium level, nephrology and poison control team initially recommended only supportive therapy without any need for dialysis as serum creatinine (0.9 mg/dL) was normal. Her urinary output was consistently normal (between 1350-1600 milliliters per day) throughout. Later, the decision was taken to dialyze the patient despite normal renal functions (creatinine=1.1 mg/dL, BUN= 17 mg/dL) because of the severity of the signs and symptoms and continuous increase of serum magnesium level in the presence of ongoing supportive therapy. The patient was then transferred to the medical intensive care unit (MICU) and it turned out that dialysis effectively lowered the serum Mg level. However, she still remained encephalopathic. Neurological assessment demonstrated bilaterally reactive pupils and extensor posturing on painful stimuli. Brain magnetic resonance imaging (MRI)findings were consistent with hypoxic-ischemic injury, possibly because of prolonged cardiac arrest, and electroencephalography (EEG) recording was also suggestive of severe cortical injury with a minimal response to pain. Meaningful recovery of the brain functions was deemed unlikely based on the clinical status of the patient, the findings of MRI and that of EEG. The family was informed about the poor prognosis of the patient and the decision was made to provide comfort measures only. Unfortunately, patient expired on the 6th post-admission day.
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pmc-6230458-1
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The reported patient was a 33-year-old man complaining of decreased urine volume, urine color change, and lower abdominal pain. He was admitted to the emergency department of a general university hospital in one of the northern cities of Iran in winter, 2016. After preliminary examinations, he was transferred to the department of nephrology for dialysis and other treatments because of high levels of urea and creatinine as well as ARF. Because of a history of drug dependence, a request for psychiatric consultation was submitted to psychiatric service department of the hospital. During clinical diagnostic interviews, the patient was determined as suffering from substance-related disorder and borderline personality disorder on the basis of the Axes I and II dimensions, respectively, of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5).
He had a history of hospitalization for methamphetamine rehabilitation, after which the patient turned to methadone, tramadol, and opium. To prevent the weight loss caused by these drugs, he arbitrarily used oxymetholone for two months. The patient was observed for the onset of urinary symptoms for four days prior to admission. The first laboratory findings for ARF included a urea level of 238 mg/dL and a creatinine level of 11 mg/dL. Muscle injury and rhabdomyolysis were confirmed through the analysis of experimental data (myoglobinuria, CPK: 10726 IU/L and LDH: 4383 U/L). Concentrations of electrolytes, such as potassium and sodium (Na: 130 mEq/L and K: 4.9 mEq/L), and serum levels of liver enzymes (alanine transaminase and aspartate transaminase) and coagulation factors were normal. Liver and kidney ultrasonography was performed shortly after hospitalization.
Liver size and echogenicity were normal. The right kidney was 136 mm in size, with a cortical echo and increased corticomedullary differentiation. A small amount of perinephric fluid was evident around the kidney. The left kidney was 102 mm in size, with a normal paranshyal echo and reduced focal thickness. Based upon physical examination of the patient, the heart, lungs, and nervous system showed normal functioning. After diagnostic confirmation, the primary therapeutic purpose was to prevent ARF risk factors, including the reduction of fluid volume, the blocking of tubules, release of free radicals, and aciduria. The patient underwent seven rounds of hemodialysis and hydration. Eight days after the first day of hospitalization, his CPK and LDH levels declined rapidly (CPK: 365 IU/L and LDH: 855 U/L). When ARF was settled and the values were normal, the patient was discharged.
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pmc-6230460-1
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A 79-year-old male with a history of smoking, chronic obstructive pulmonary disease and hypertension, was transferred early in the morning to our emergency department (ED) due to syncope. A few hours earlier, the patient had visited the on-call ED for persistent hiccups that had been interfering with his sleep. A new onset atrial fibrillation was found during that visit, and the patient was given chlorpromazine for symptomatic management of hiccups and he was discharged with a prescription for rivaroxaban. At presentation to our hospital, the patient had low blood pressure (60/40 mmHg) which was attributed to chlorpromazine () as no other cause was found. An echocardiography did not reveal any findings that could explain the hypotension, the electrocardiogram had no findings of ischemia and serial serum troponin measurements were normal.
The patient’s lab tests were normal (WBC 8200x109/L, neutrophils 60%, lymphocytes 29%, eosinophil count 100/μl, normal liver function tests, sodium 136mEq/L, potassium 4.3 mEq/L, glucose 87 mg/dl, normal arterial blood gases: pO2 92 mmHg, pH 7.404, pCO2 33.5 mmHg, HCO3 20.5 mmol/L) except a slightly elevated C-reactive protein (CRP=3 mg/dL, upper limit of normal=0.5 mg/dl) and acute kidney injury (creatinine 1.61 mg/dl from a baseline of 1.1 mg/dl) which was attributed to the patient’s hypotension. The chest x-ray revealed a retrocardiac consolidation ().
The patient had no fever. When asked, he reported cough, but not more than usual. During his hospital stay, low-grade fever was recorded (axillary temperature up to 37.3oC) and CRP rose up to 8.38 mg/dl.
Given the patient’s smoking history, a brain and chest CT were performed.
The brain CT was normal, but the chest CT revealed a left lower lobe consolidation and smaller consolidations in the right upper and middle lobes (). The patient was prescribed levofloxacin for 5 days and baclofen as a temporary symptomatic treatment for hiccups as several physical maneuvers were unsuccessful.
At follow-up, one month later, a second chest CT scan showed almost complete resolution of previous findings (). The patient reported that hiccups had persisted for about a week and then gradually resolved.
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pmc-6230461-1
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A non-smoker 45-year old woman presented with left-sided chest pain and breathlessness over 7-day duration, with no history of chest trauma. She had no signs of hemodynamic instability and did not appear to be in significant respiratory distress with only mild partial respiratory insufficiency.
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pmc-6230547-1
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A 55-year-old man with severe MR and middle scallop prolapse due to torn chordae underwent MVR. Preoperative LV ejection fraction, tricuspid annular plane systolic excursion and right ventricular fractional area change were 62%, 26 mm and 44%, respectively. MVR was performed with folding middle scallop and annuloplasty with a 30-mm Physio II annuloplasty ring (Edwards Lifesciences LLC, Irvine, CA, USA). MR was well controlled. Despite difficulty weaning from cardiopulmonary bypass and some persistent surgical bleeding, he was hemodynamically stabilized on admission to the ICU without evidence of SAM and LVOTO.
He became hemodynamically unstable on the first postoperative day, with parameters as follows: heart rate 87 beats/min (bpm), sinus rhythm, arterial pressure 80/48 mmHg, pulmonary artery pressure 28/20 mmHg, central venous pressure 17 mmHg, cardiac index 1.7 L/min/m2, right ventricular stroke work index (RVSWI) 1.6 g/m2/beat, and mixed venous oxygen saturation (SvO2) 54%.
Transthoracic echocardiography (TTE) was performed to investigate the cause of hemodynamic deterioration; however, adequate images could not be obtained. TEE was then performed and showed right ventricular (RV) dysfunction without SAM and LVOTO. We decided to increase the dose of inotrope (adrenaline) to improve RV function and the hemodynamics stabilized.
Severe hypotension developed on the second postoperative day. Hemodynamic parameters were as follows: heart rate 90 bpm, arterial pressure 50/42 mmHg, pulmonary artery pressure 28/20 mmHg, central venous pressure 13 mmHg, cardiac index 1.6 L/min/m2, RVSWI 2.4 g/m2/beat, and SvO2 48%. The ventilator settings were as follows: pressure assist-control ventilation, respiratory rate 14 breaths/min, peak inspiratory pressure 16 cmH2O, inspiration time 1.6 s, positive end-expiratory pressure 10 cmH2O, and fraction of inspiratory oxygen 0.6.
Although the dose of dopamine, dobutamine and adrenaline was greatly increased to 5.4 µg/kg/min, 5.4 µg/kg/min and 0.05 µg/kg/min, respectively, and intra-aortic balloon pumping was started, hemodynamic parameters did not show improvement. No pulmonary vasodilator was used because of avoiding hypotension.
Repeat TEE revealed the hyperdynamic left ventricle (LV) without any regional wall motion abnormality, as well as LVOTO and severe MR (vena contracta 8 mm) due to SAM (Fig. ; Additional file ). In addition, RV dysfunction was still presented. We immediately reduced the inotrope dose and started vasopressors (vasopressin 2 unit/h) with volume loading (acetate Ringer 500 mL and 5% albumin 250 mL). SAM, LVOTO, and MR rapidly resolved and hemodynamic parameters stabilized. However, when normal sinus rhythm converted into junctional rhythm, SAM, LVOTO and severe MR recurred and hemodynamic parameters again became unstable (Figs. , ; Additional files , , ). TEE showed that conversion from normal sinus rhythm into junctional rhythm worsened the severity of SAM, LVOTO, and MR. The electrocardiogram showed junctional rhythm alternating with sinus rhythm, repeated at short intervals. We found that the rhythm change had a significant effect on the emergence of SAM and hemodynamic deterioration. Temporary atrial pacing was used to stabilize the heart rhythm. After starting atrial pacing, the hemodynamics stabilized and SAM, LVOTO, and MR did not recur (Fig. ). He discharged from ICU on the 22nd postoperative day and from the hospital on the 43rd postoperative day.
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pmc-6230594-1
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An 18-year-old woman was admitted to our center in 2000 with persistent general malaise and fever. Physical and ultrasound examination showed increased spleen size (+0.2 dm). Laboratory data showed significant leukocytosis (26.8 × 109/μL) and basophilia (20%). According to these indicators, accelerated phase of CML has been diagnosed, after cytogenetic analysis Ph-chromosome was detected in all bone marrow myeloid cells (BMC). After 6 months of chemotherapy with hydrea and idarubicin, patient has been receiving imatinib 400 mg/d the first month, 600 mg/d for 2 following months, and 800 mg/d for 8 following years. Significant cytogenetic response (20% Ph+ bone marrow cells) and optimal molecular response (BCR-ABL/ABL ratio = 9.43%) were achieved by the end of the first year but cytogenetic (CyR) and molecular responses were lost after 18 months of treatment with imatinib (CyR = 43% Ph+ cells, BCR-ABL/ABL = 51.77%). After 8 years of treatment, the hematologic response was lost (basophilia more than 20%), Ph-chromosome was detected in 67% of cells, the BCR-ABL/ABL ratio was 75.81%, and also cDNA direct sequencing revealed M351T mutation.
In 2009, bosutinib therapy had been started, and after the first month of treatment with 500 mg/d, cytogenetic response had been 55% Ph+ cells and molecular response had been 62.34%, but after 3 months, it was lost (CyR = 67%; BCR-ABL/ABL = 88.44%) and the dosage was increased to 600 mg/d no effect.
In 2013, direct Sanger sequencing of cDNA revealed two transcript types: “wild-type” BCR-ABL without point mutations and truncated transcript with combination of del. c.1086-1270 and mutation c.893T>G (p.L298R). Dasatinib therapy (140 mg/d) was initiated but discontinued after 3 years because of significant thrombocytopenia (15.4 × 109 platelets/dL) and absence of molecular and cytogenetic (after first month of treatment—CyR = 31%, BCR-ABL/ABL = 56.84%; after 3 years—CyR = 100%, BCR-ABL/ABL = 125.39%).
In this way, it was decided to conduct fragment analysis and direct Sanger sequencing to identify point mutations. In 2016, cDNA fragment analysis has also detected two transcript types, and after their sequencing, I found that truncated transcript with del. c.1086-1270 (Figure ) and c.893T>G (p.L298R) has acquired a novel mutation c.844G>C p.E282Q which has not been described so far. Interestingly, point mutations were absent in normal length BCR-ABL transcript (Figure ).
According to these data, it was decided to offer the patient to participate in a Phase I clinical trial of a novel third generation BCR-ABL TKI PF-114 mesylate. Initial dose was 50 mg/d for the first month and now she receives dose 300 mg/d.
Next I decided to estimate the frequency of occurrence of exon 7 deletion among the patients of our center. A total of 33 male and 49 female CML patients (age 24-80) with BCR-ABL transcript level >0.1% were included in the study. Initial screening for deletions was performed by cDNA fragment analysis (Applied Biosystems 3130). BCR-ABL del. c.1086-1270 was estimated by nested PCR followed by Sanger sequencing. Deletion was found in 32 patients (39%). Fifteen of 32 (47%) patients with deletion were TKI sensitive and did not have additional point mutations while 17 (53%) were TKI resistant. All patients in the TKI-resistant group had a history of proven resistance to at least one inhibitor, while 12 of 17 these patients did not have point mutations associated with resistance, and in 5 other patients, the following mutations were detected only in the deleted transcript (transcript with del. c.1086-1270): F317V, F317L, E282Q, M351T, T315I, while they were absent in normal length transcripts.
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pmc-6230598-1
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Sixty-five-year-old Caucasian male with coronary artery disease with a left anterior descending artery stent placed about 4 years ago after an abnormal nuclear stress and hypertension for 15 years was referred to nephrology clinic. He was recently discharged from emergency department for leg swelling, positive blood, and more than 300 mg of proteins in urine. He had seen a cardiologist in mean time and evaluation was unremarkable. His presenting weight was 120 kg, body temperature was 36.5°C, his pulse was 52 beats/min and regular, and his blood pressure was 150/98 mm Hg. Physical examination was pertinent for bilateral lower leg edema up to thighs. He was on atenolol, aspirin, irbesartan (300 mg daily), and furosemide. He was up to date for age-appropriate health screening.
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pmc-6230600-1
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A 10-year-old male patient, previously healthy, attended our Emergency Department complaining of abdominal pain of 12 hours duration. The pain was periumbilical, moderate in intensity, and associated with nausea. The pain became more severe and shifted to the right lower quadrant. There were no other associated symptoms. The past medical history was irrelevant. There was no reported fever neither weight loss nor night sweats. He was not BCG-vaccinated. Upon presentation, the patient was conscious, oriented, in pain, and afebrile. Vital signs were within normal range. The abdomen was soft, tender on deep palpation of the right lower quadrant. The McBurney sign was positive. The rest of physical examination was unremarkable. Laboratory investigations revealed a hemoglobin of 11.2 g/dL (range 11-13.3 g/dL), hematocrit 36.5 (range 31.5-38 g/dL), WBC 11 000/mm3 (neutrophils 82%, lymphocytes 11%) [range 5700-9900/mm3], platelets 381 000/mm3 (range 227 000-350 000/mm3), and MCV of 71 fL/red cell (range 78.2-83.9 fL/red cell). The C-Reactive Protein (CRP) was 2 mg/dL (normal <0.3 mg/dL). Since these symptoms were consistent with appendicitis, the patient was taken for emergency surgery without abdominal imaging. During surgery, there was minimal appendicular inflammation with pus in the right lower quadrant. Further exploration revealed a mass in the mesentery. There was a sealed perforation between the right colon and the small intestine without spillage, causing large mesenteric lymph nodes. The colon was released, edges debrided, and the perforation was closed. Biopsies taken from the colon and lymph nodes were sent for pathology. Patient was started on ampicillin, gentamycin, and ceftriaxone. The postop period was uneventful. A culture taken from the pus did not grow any organism. Antibiotics were continued for 7 days. Histopathological examination of the colon biopsies revealed granulomatous inflammation with multinucleated giant cells with caseating granuloma. The Ziehl-Neelsen stain was negative. The tuberculin skin test (TST) for the patient examined after 48 hours was positive with an induration of 25 mm in diameter. The interferon gamma release assays (IGRAs) was positive. So the diagnosis of tuberculosis was confirmed. Chest X-ray and CT scan of the chest were normal. PCR for tuberculosis on abdominal fluid was negative. The patient was started on quadruple therapy (isoniazid, ethambutol, pyrazinamide, and rifampin), and the patient was discharged home.
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pmc-6230601-1
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Patient 2 is a 65-year-old African-American female, also depicted in Figure . She had an apparently normal perinatal and neonatal history, slow physical growth, and some learning difficulty in childhood. The patient began developing staring spells at approximately 6 years of age, which were eventually interpreted and treated as seizures. Pubertal development was apparently normal with menses starting at age 11. There was a report of heavy menses, and a hysterectomy was ultimately performed due to uterine fibroids. Her health history also included cataract removal in her mid-50s, tinnitus, brittle teeth, and a heart murmur.
The initial genetic evaluation was prompted by pain and numbness in the extremities at age 55 years. Imaging studies revealed spinal stenosis of T11-12 and some spinal cord impingement treated with surgical decompression of the spinal cord. Her stature was 146.7 cm (≤3rd centile), weight 91.2 kg (>97th centile), and head circumference 56.4 cm (60th centile). The arms were disproportionately short with more severe shortness of the humeri. There were no ventral elbow creases. Her fingers were short and distally tapered. Short lower extremities and brachydactyly of the toes were also present. Dysmorphic facial features are noted in Figure .
Health concerns included glaucoma, hypertension, and hypercholesterolemia. She continued to have increasing symptoms of stiffness and pain involving her back, groin, and knees causing limitations of her mobility.
Skeletal anomalies found during the first skeletal survey of Patient 2 at age 55 years were thought to be consistent with Robinow syndrome, as were her clinical features. However, this diagnosis was considered unlikely upon finding no molecular alteration by ROR2 mutation screening. The radiographic findings are illustrated in Figure .
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pmc-6230605-1
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A 51-year-old woman was admitted to our hospital because of recurrent leg ulcerations. Eight years previously, she noticed purpura on both legs, which progressed to painful ulcerations. At that time, she was diagnosed with livedoid vasculitis complicated by cellulitis (Figure A). She noticed systemic joint pain and was referred to rheumatologist. Laboratory findings revealed positive for antinuclear antibody (×320), anti-double-strand DNA antibody (342 IU/mL), and anti-cardiolipin antibody (ACA) (18 U/mL). She was diagnosed with SLE and treated with 15 mg of prednisolone together with topical therapies such as wound cleaning and topical ointments application. At this time, immunosuppressive agents were not used. Subsequently, leg ulcerations gradually improved and healed with scars in approximately 3 years.
She has remained asymptomatic under a maintenance dose of 10 mg of prednisolone However, leg ulcerations relapsed and she was referred to our hospital 2 years previously. Physical examination revealed swelling of right leg with multiple small ulcers, white scars, and purpura (Figure B). Deterioration of livedoid vasculitis complicated by SLE was suspected, and methylprednisolone pulse therapy (MPT: 1 g/d intravenously for 3 days) was introduced together with antiplatelet medications followed by 50 mg of prednisolone and 50 mg of azathioprine. Subsequently, she experienced immediate pain relief and leg ulcerations gradually improved and healed with scars in 2 months (Figure C).
Since healing of the ulcers, prednisolone was tapered and she has remained asymptomatic. However, 3 months previously, ulcerations relapsed on right leg. Physical examination revealed swelling of right leg with moth-eaten appearance multiple ulcerations (Figure D). MPT had little effect this time. Skin rebiopsy revealed occlusion of superficial dermal small vessels due to fibrin thrombus. Infiltration of inflammatory cells around the dermal vessels was scarce (Figure ). These findings were characteristic features of LV; thus, the diagnosis of LV was confirmed. We introduced IVIG (400 mg/kg of immunoglobulin for 5 days) together with warfarin to achieve international normalized ratio between 2 and 3. Subsequently, leg ulcerations gradually improved and healed with scars in 6 weeks (Figure E,F).
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pmc-6230608-1
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A 53-year-old male Moroccan patient who was followed for diabetes outside of health facility, consulted for a hot thyroid nodule of recent appearance. In the context of an extensive assessment, HbA1c assay was requested, it was performed in a private laboratory and objected to the absence of HbA1 with the presence of a hemoglobin C variant. The diagnosis of a homozygous hemoglobin C disease was retained, and the determination of HbA1c was impossible. The patient is then sent to our laboratory to explore his hemoglobinopathy.
Capillary electrophoresis in alkaline buffer (pH 9.4) with the SEBIA CAPILLARYS 2 showed a peak migrating at zone 250 with a rate equal to 88.6%, the rate of HbF and HbA2 were 9.9% and 1.5%, respectively (Figure ). Hemoglobin electrophoresis showed a variant located in zone 3 corresponding to the migration zone of HbC; an acidic pH electrophoresis stained with amidoschwartz on Sebia Hydrasys was necessary and showed an abnormal band migrating upstream of the area of the deposit corresponding to variant C of Hb (Figure ). Confirmation by high performance liquid chromatography (HPLC) on D-10 automaton (Bio-Rad® Biorad Diamat; Biorad, Ivry Sur Seine, France) in Varian © mode was performed to quantify the fractions F and A2 of hemoglobin (HbF: 5.8% and HbA2: 5%).
With the HbF value ranging between 2% and 10% and the HbA2 > 3.4%, we suspected a combination of beta-thalassemia. The patient's blood samples were then sent for genotypic study. Betag lobin sequencing on Applied 3130XL showed the presence of two mutations in the heterozygous state: HbC-HBB: c.19G>A and Cd6 (-A)-HBB: c.20delA.
The hemogram revealed a discrete anemia (Hemoglobin = 11.5 g/dL), microcytosis (Mean corpuscular volume at 65 fL), hypochromia (Mean corpuscular hemoglobin at 20 pg), pseudoglobulia (red blood cells at 5.68 × 106/μL), the hematocrit was slightly low (37%), and thrombocytopenia was noted (83 000/mm3). The blood smear showed erythrocyte anisopoikilocytosis with microcytes and Target cells.
A biochemical test was carried out: The blood ionogram, the hepatic and lipid assessment were normal, however an increase of the total bilirubin and the indirect bilirubin, the ferritin and the iron are slightly above the normal, the TSHus as well as haptoglobin were decreased (Table ). The biological assessment confirmed the hemolytic anemia. This patient has no surgical or medical history apart from jaundice and skin lesions due to psoriasis. Clinical examination revealed moderate and isolated splenomegaly. No particular family history, no notion of hemoglobinopathy in the siblings. No parental consanguinity. The family survey could not be carried out because of death of both parents.
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pmc-6230609-1
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A 21-month-old boy presented to our pediatric emergency care center in January 2017 with the chief complaint of cold extremities. His growth and developmental history were appropriate for his age, and he had no remarkable personal or family medical history.
Transient fever and mild cough were noted 2 weeks before the consultation. He had been treated for frostbite for about 2 weeks by the previous doctor, but there had been no improvement. The child often played outdoors with bare hands at his nursery school. The patient subjectively complained of cold and painful fingers. Vital signs were normal, there was no cyanosis of the lips, and breathing sounds and heart sounds were normal. The abdomen was flat and soft, without hepatosplenomegaly and no palpable mass. His peripheral arterial pulse was detectable. (Figure A) However, his nailfold capillaries were difficult to observe. Laboratory analyses at the time of admission showed no leukocytosis, anemia, or platelet reduction. In addition, no increased liver enzymes or indications of renal dysfunction were observed, and C-reactive protein and electrolyte levels were within the respective normal ranges.
Coagulation analyses showed a prolonged activated partial thromboplastin time (APTT) of 59.5 seconds, but the results normalized during hospitalization. The following parameters were normal: PT, 84%; fibrinogen, 169 mg/dL; and D-dimer, 0.27 μ/mL. To diagnose mycoplasma infections, antibody titers (PA) were submitted at the time of admission, but they were <40 in both cases. Although lupus anticoagulant (LAC) positivity was noted only at the time of hospitalization, nuclear antibody levels, ds DNA antibody, anti-RNP antibody, p- and c-anti-neutrophil cytoplasmic antibody levels, cold agglutinin reaction, rheumatoid factor, immunoglobulin levels, complement component levels, β2GP1 antibody levels, protein C levels, and protein S activity were within their respective normal ranges. Direct and indirect Coombs tests and cryoglobulin assessments also yielded negative findings. The electrocardiogram was normal, and no congenital heart disease was observed on echocardiography.
The contrast computed tomography (CT) and magnetic resonance angiography (MRA) of limbs were performed, but no obvious vasospasm was noted.
Although the application of a moisturizer and vasodilator on the extremities was initiated on the first day of hospitalization, the color of the fingertips symmetrically changed to black on the eighth day of hospitalization (Figure B). At the time of blood collection, no increase in inflammatory response was observed, and APTT, fibrinogen, and D-dimer values were within the normal ranges.
A presumptive diagnosis of exacerbation of RP was made. The patient was treated with intravenous methylprednisolone for 3 days; in addition, oral administration of a calcium channel blocker and weekly administration of lipo-prostaglandin E1 was initiated. Although the total amount of skin that had changed to black at the end of the limb gradually reduced, the skin that had already turned black did not revert to a normal tone.
On day 16, treatment with aspirin and traditional Chinese medicine was initiated. On day 18 of hospitalization, gradual peeling of the skin on the affected areas was observed (Figure C). Pathologic findings of the ends of the limbs showed an area of coagulation necrosis in the epidermis as well as dilated blood vessels, but no noticeable inflammation or vasculitis was observed in the surrounding area. Subsequently, the surface of the skin changed to a black-gray crust and gradually peeled off. The skin surface below the skin that had peeled off was pinkish and normal. Thereafter, the color of the fingers improved, and the patient was discharged on the day 45 of hospitalization (Figure D).
At present, 1 year has passed without relapse of symptoms.
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pmc-6230613-1
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A 70-year-old man, previously implanted (in 2011) with a dual-chamber implantable cardioverter-defibrillator (ICD) in secondary prevention for symptomatic sustained idiopathic VT, no coronary artery disease, and preserved left ventricular (LV) ejection fraction, was referred to our hospital for electrophysiological study in January 2014. His history was notable for several ICD discharges due to incessant VTs since 2012, which were refractory to multiple antiarrhythmic agents. Therefore, the patient had undergone three previous ablation procedures in the same year (2012), the first at our center, the second and third in a different hospital. During all previous procedures, substrate bipolar voltage mapping of the left ventricle (Ensite Velocity System St Jude Medical, St. Paul, MN, USA) had been performed through a catheter without CF sensor, and the presence of a scar region (bipolar electrogram voltage ≤0.5 mV) had been documented in the mid-inferoseptum (Figure ). Ablations had been performed by means of the same mapping catheter, and with the same parameters (i.e., RF power 50 W with maximum temperature of 45°C and irrigation flow of 15 mL/min) using a retrograde transaortic approach. In all cases, the ablation strategy had been exclusively based on a substrate-guided approach and pace-mapping, due to the noninducibility of the clinical VT. During the following months, the patient had suffered several recurrences of VT, with three arrhythmic storms (Figure , cycle length: 460 ms), triggering ICD shocks (overall, up to 97 appropriate shocks since implantation). To the fourth hospital admission in January 2014, a 12-lead ECG showed sinus rhythm and premature ventricular contraction originating from the mid-inferoseptum of the left ventricle (Figure ). At same time, transthoracic echocardiography revealed normal biventricular systolic function and mild-to-moderate mitral valve regurgitation. We decided to perform a new ablation procedure with a CF-sensing catheter (TactiCath; St. Jude Medical, St. Paul, MN), via retrograde transaortic approach. Voltage mapping, performed during sinus rhythm, with an adequate electrode contact during mapping to avoid un underestimation of voltage (stable CF > 8 g) showed the presence of healthy tissue, no scar, and no signs of previous RF ablation lesions (Figure ). A sustained monomorphic VT could be induced by means of programmed ventricular electrical stimulation (PES) at 450 ms of drive with three ventricular extrastimuli from the right ventricular apex under isoprenaline infusion. The VT morphology match to a clinical ventricular premature beats (Figure ) in all 12 leads. Activation mapping during arrhythmia showed a focal VT (Figure ). RF ablation was performed at the site of earliest activity, maintaining good and stable contact, with the same parameters of previous procedures (i.e., RF power 50 Watt with maximum temperature of 45°C and irrigation flow of 15 mL/min), CF between 10 and 20 g and min force-time interval (FTI) >400 g. During a single RF ablation attempt, sinus rhythm was restored in 30 seconds; after RF delivery, the VT was no more inducible by PES. Procedure was not performed under anesthesia, and at same time, no complications were observed. After this last procedure, the patient remained free from any arrhythmic recurrences at the subsequent 48-month follow-up.
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pmc-6230616-1
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An 81-year-old woman with dementia was admitted to the long-term care facility in Kawauchi Village after the 2011 Fukushima disaster. Before the disaster, she had lived in Kawauchi Village with her husband and their son's family. She had experienced a stroke about twenty years ago without neurological sequelae and had no other remarkable past medical history. On March 11, 2011, the Great East Japan Earthquake struck the area, triggering the FDNPP accident. The patient and her husband evacuated to a shelter apart from other family members because of the mandatory evacuation order. After moving to temporary housing in Koriyama, she lived alone with her husband, while some relatives lived in temporary housing nearby.
In June 2012, she presented with memory loss. Physical examination revealed no neurological findings. Her symptoms were stable and were followed up in an outpatient clinic. A cognitive function test had not been performed before the disaster, but the patient and her family did not notice dementia symptoms at that time. Symptoms including agitation, irritability, aggression, and personality change emerged in October 2012, particularly during attendance at daycare activities. At that time, the patient's score on the Mini-Mental State Examination (MMSE) was 14 out of 30, indicating dementia. At first, she was suspected of having Pick disease because of the personality change. Brain computed tomography revealed hippocampal atrophy without frontotemporal lobar degeneration. Brain magnetic resonance imaging (MRI) revealed a previous putamen lacunar infarction, which could not completely rule out vascular dementia. Brain MRI also showed hippocampal-dominant atrophy that was 14.6 times as atrophic as other parts of the brain. The neurological changes accompanied by aggressive behavior were consistent with severe BPSD. Together with clinical symptoms and the results of MRI, the diagnosis was confirmed as Alzheimer's disease.
The patient was treated with memantine 10 mg/d, but the BPSD, such as undressing, hiding or stealing objects, agitation, and aggression, continued to worsen. Although the family members made their best effort to provide informal care to the patient, as the patient and her husband lived apart from the family members in the temporary housing, the family's support alone could not cover the entire care of the patient. In February 2015, on order of the designated psychiatrist, she was mandatorily hospitalized for medical care and protection. At the time of admission, the patient's cognitive function could not be measured. Although its use is controversial in dementia patients, percutaneous endoscopic gastrostomy was performed because she suddenly began to refuse oral intake in September 2015; this decision was based on the family's values and preferences. The patient's BPSD, including agitation and aggression, were slightly alleviated and she was transferred to the nonpsychiatric ward. In January 2016, she was moved to the long-term care facility in Kawauchi Village with her husband.
At the time of the patient's admission to the long-term care facility, she was immobilized and needed constant care. She could not understand any explanations or instructions and her cognitive function could not be measured. Although she could not understand explanations, she could swallow and exhibited only mild dysphagia in a modified water-swallowing function test (MWST) and scored 3b (swallowed successfully but with wet hoarseness). She was started on oral intake of semisolid foods in addition to gastronomy feeding.
She was admitted to the facility with her husband, and they spent the daytimes together while she received care. Some caregivers in the facility had been raised in Kawauchi Village and had known the patient long before her admission. These caregivers conversed with the patient about life in Kawauchi and their mutual acquaintances. Her son and relatives living nearby continued to visit the facility several times a week and took the patient in a wheelchair for walks around the facility grounds. Caregivers respected the patient's motivation to continue her daily activities such as dressing, bathing, and eating. Her swallowing function improved to an MWST score of 4 (swallowed successfully with no choking or wet hoarseness) in June 2016, when she ate all meals orally without a gastronomy feeding tube.
The patient's BPSD improved sufficiently that the gastronomy feeding was successfully removed in March 2017. She still exhibited cognitive impairment (MMSE: 13) but without severe BPSD by December 2017. She ate meals orally, used a wheelchair independently, and lived with her husband in the long-term care facility in the repopulated village.
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pmc-6230629-1
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The patient was a 12-year-old female for whom a diagnosis of R(20) was made in a context of refractory epilepsy with learning disorders.
The diagnosis was confirmed by karyotype at the Department of Clinical Genetics of Rouen University Hospital, Rouen, France, when she was 9 years old. Breakpoints (p13 and q13.3) were confirmed by FISH analysis. Overall, 20% of analyzed cells were found to be R(20). No deletion was found in the subtelomeric regions of chromosome 20 for both short and long arms.
No complications were reported during her mother's pregnancy and delivery. She was eutrophic at birth (weight = 3400 g; height = 50.5 cm; cranial perimeter = 35 cm). APGAR score was 10/10. Regarding psychomotor development, no delays were found during her first years of life.
Learning disorders began in primary school, with reading difficulties. In this context, she was evaluated with standard metric test and prescribed speech rehabilitation. This initial evaluation found attention and memory disabilities with a speech delay. First epileptic seizures appeared at 6 years old.
At the age of 10 years, our patient had a complete neuropsychological evaluation. The Test of Everyday Attention for Children found a deficit in executive function with distractibility, fatigability, and psychological slowness. The Wechsler Intelligence Scale for Children (WISC—IV) was homogeneous without intellectual disability (Verbal Comprehension Index = 79; Perceptual Reasoning Index = 90; Working Memory Index = 88; Processing Speed Index = 96; Full Scale IQ = 83).
Cardiological assessment found a prolapse of the mitral valve without any clinical impact.
At twelve years old, the patient presented a nonconvulsive status epilepticus with altered consciousness and no recovery period for about 1 month. Concomitantly, parents reported an acute change in her behavior. Her antiepileptic treatment was adapted with phenobarbital 60 mg/d, oxcarbazepine 900 mg/d, sodium valproate 1 g/d, hydroxyzine 25 mg/d, and amitriptyline 12 mg/d. EEG showed alternative records switching between normal trace periods and mainly bifrontal slow bursts with spikes and waves and slow rhythmic bursts. This phenotype was associated with major behavioral symptoms including aggressiveness, self-injury, and sleep disorder. Cerebral MRI found an asymptomatic pineal cyst but no other abnormalities were reported.
Therefore, the patient was hospitalized in our child and adolescent psychiatric unit. Clinical examination found severe psychomotor symptoms including negativism, ambitendency, motor and verbal perseverations, aggressiveness, irritability, and impulsivity. Disinhibition was observed with very foul language, sexual behaviors toward even young peers, and disobedience of rules. Frequent visual hallucinations were reported by the patient and retrospectively confirmed by parents. These hallucinations occurred especially in conditions of low luminosity and were attributed to status epilepticus.
During the first weeks of hospitalization, we observed rapid fluctuations in mood and behavior with oscillations between “depressive-like” (irritability, aggressiveness, sadness and lethargy) and “manic-like” symptoms (disinhibition, psychomotor agitation, hyperactivity). The intensity of symptoms was evaluated weekly by a senior physician (VF) using the Aberrant Behavior Checklist (ABC).
Regarding psychiatric features fulfilling the diagnosis criteria for bipolar disorder not otherwise specified (BP-NOS) (considering the short duration of both depressive and manic symptoms and rapid fluctuations in mood features), and the risk of modifying the epileptic threshold with other therapeutic options as antipsychotics, we decided to challenge this patient with lithium. We introduced lithium 400 mg extended-release (ER) 2 weeks after her admission. The therapeutic dose (0.8-1.2 mEq/L) was obtained with lithium 1 g/d ER after 6 weeks.
We observed a drastic clinical improvement especially for impulsivity, irritability, and aggressiveness. ABC subscores were reduced by 30 points for hyperactivity, 25 points for irritability, and 16 points for lethargy between week 1 and week 14 (Figure ), in line with the classical time frame for action of lithium.
Moreover, the average number of seizures per week decreased significantly. Initially, about two to three seizures were observed each day. After 6 weeks, some days were free of seizures, and finally, there was no seizure at all during the last week (Figure ). However, some oppositional features remained.
Four months after the patient's discharge, monthly follow-up showed sustained improvement on both epileptic seizure (less than one seizure per week) and mood disorder.
No adverse event concerning lithium was reported, either during hospitalization, or during follow-up since the end of hospitalization.
This case brings into questions the pathophysiology of neuropsychiatric symptoms in R(20). We found rationale to justify the interest of lithium in R(20) behavioral and epileptic mechanisms.
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pmc-6230641-1
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Patient A is a 54-year-old female who initially presented to her primary care physician with the chief complaint of significant rectal pressure with a constant feeling of incomplete evacuation and rectal spasm. She also noted intermittent rectal bleeding, although this was attributed to hemorrhoids. She denied any changes in appetite or weight loss; family history was negative for colon cancer.
The patient was referred to the colorectal surgery service for a colonoscopy that revealed a large, malignant appearing rectal lesion. Biopsies were performed which confirmed melanoma, spindle cell type (Figure ). She was then referred to a medical oncologist. The oncologic staging was performed, which consisted of a CT of the chest/abdomen/pelvis (Figure ) and a bone scan. These studies were reviewed, and no definitive metastases were appreciated. The oncologist did not feel neoadjuvant therapy that was indicated and recommended surgical intervention. Given the size and involvement of the anal sphincters, an abdominoperineal resection (APR) was recommended.
The open abdominoperineal resection was performed without complication. Intra-operatively, the involvement of the posterior vaginal wall was noted, and therefore, the patient underwent a posterior vaginectomy as well. Her postoperative course was uneventful. The final pathology revealed a 7 × 6 × 6 cm mass confined to the muscular wall consistent with high-grade melanoma, 2/18 lymph nodes positive, pT2bN1bMx, negative margins, and no lymphovascular or perineural involvement (Figures and ). Immunohistochemistry with staining of S100, Melan A, and HMB-45 was performed and positive for melanoma.
Approximately 1 month into her postoperative course, the patient sought a second opinion. A PET scan and CT of the brain were ordered. Unfortunately, metastatic involvement of the breast, liver, and lung was discovered. It was decided that systemic therapy was needed and high-dose IL-2 was recommended. After cycle 1 of high-dose IL-2 (600 000 IU/kg IV every 8 hours on days 1-5 and 15-19), restaging scan reveals the progression of the disease. This was confirmed with the findings of a new palpable posterior vaginal mass on pelvic examination at her 3-month follow-up appointment. The patient survived 4 months after initial diagnosis.
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pmc-6230641-2
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Patient B is an 84-year-old male referred for evaluation of constipation and rectal bleeding. Digital rectal examination revealed a posterior rectal mass (Figure ). Colonoscopy, the following day, demonstrated a low-lying ulcerated rectal mass. The final pathology report confirmed malignant melanoma (Figure ).
An oncology referral was obtained at this point. CT of the chest, abdomen, and pelvis was performed at an outpatient radiology facility, which showed a large pelvic mass, along with multiple pulmonary nodules concerning for metastasis. There were no neoadjuvant or adjuvant therapies recommended. Surgical intervention was recommended as a modality of palliative therapy due to his extensive anorectal symptoms.
The patient underwent an open abdominoperineal resection. His immediate postoperative course was uneventful. The final pathology report revealed ulcerated malignant melanoma of the rectum measuring 8.7 x 7.2 x 3.2 cm, and tumor invades deep into muscularis propria, positive lymphatic and vascular invasion, 10/11 positive lymph nodes, and positive radial margins for final pathologic staging of pT3N1Mx (Figure ). Immunohistochemistry staining with S100, Melan A, and HMB-45 was performed and confirmed the diagnosis of melanoma.
Postoperative recovery progressed as expected, and he experienced significant symptomatic relief. The patient refused adjuvant chemotherapy after discussion of prognosis with medical oncology. A symptom-based palliative approach was recommended by both medical oncology and colorectal surgery. The patient survived 5 months after the initial diagnosis.
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pmc-6230643-1
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A 33-year-old multiparous woman had planned a repeat cesarean delivery at gestational week 38. A healthy male infant (3148 g) was delivered but without the placenta. Intraoperative observation revealed an asymmetrical uterus. Our previous experience with a similar case suggested an interstitial pregnancy complicated by placenta accreta. The undelivered placenta was observed on the left side of the uterine fundus (Figure A,B); thus, a supracervical hysterectomy was performed. Gross findings of the surgical specimen revealed placental accreta near the left cornu, suggesting an interstitial pregnancy (Figure C,D); these findings were confirmed by histopathological examination (Figure E).
Interstitial pregnancies account for 3% of all tubal pregnancies. Uterine rupture usually occurs in the first trimester; thus, there have been few reports on full-term interstitial pregnancy resulting in a live birth., Although it is essential to check the implantation site during early pregnancy, the abnormal position of the gestational sac had not been noticed during early pregnancy by the previous doctor, and we could not detect an interstitial pregnancy after the midtrimester. Our case should prove helpful for selection of prudent management in cases of an asymmetrical uterus during cesarean delivery.
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pmc-6230645-1
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A 52-year-old woman with no significant past medical history presented with a 2-week history of a mass in her left breast which was tender to palpation. A mammogram of the left breast revealed a large area of asymmetry laterally middle to posterior in-depth new compared to her prior mammograms. On ultrasound, there was a corresponding irregular mass measuring approximately 4.5 cm suspicious for breast carcinoma, although mastitis was also considered (Figure ).
An ultrasound-guided needle biopsy was performed, and pathologic examination revealed an acute mastitis with a granulomatous component. At low power, a brisk neutrophilic inflammatory infiltrate was noted in the breast parenchyma which in some foci appeared to be centered to ducts and lobules. A subset of the granulomas was remarkable for cystic spaces of varying size (so-called lipogranulomas). The cystic spaces were lined by a cuff of neutrophils, and Gram-positive cocci were identified within and at the edge of the cystic spaces (Figure ). Special stains including PAS-D, GMS, and AFB were negative for fungal organism and acid-fast bacilli. Because of the characteristic histology, corynebacterium was also suggested despite the identification of Gram-positive cocci in the diagnostic comment. Subsequent 16S NGS identified Corynebacterium bovis (major abundance) and Staphylococcus warneri or Staphylococcus pasteuri (moderate abundance).
To our knowledge, this is the first reported case of CNGM mimicking carcinoma of the breast with a mixed bacterial population as the causative pathogens (Figure ).
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pmc-6230648-1
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A 77-year-old man attended our services with exertional dyspnoea secondary to aortic valve stenosis. He received an orthotopic heart transplantation (HTx) in 1994 for idiopathic dilated cardiomyopathy (DCM). Unfortunately, we have no records of the patient's transplant operative data given the fact that his procedure was done 23 years ago. He remained asymptomatic during follow-up except for paroxysmal atrial flutter for which he received a single chamber pacemaker in 2008 and later, atrial flutter ablation in 2010. Patient was adherent to his medication regimen and did not show any signs of transplant rejection on several cardiac biopsies. His post-transplant cardiovascular risk factors included systemic hypertension, dyslipidaemia, and stable stage 4 chronic renal dysfunction (eGFR 23 mL/min/1.73 m2). Serial transthoracic echocardiography (TTE) performed in our institution showed progressive degenerative aortic valve disease.
At presentation, his TTE showed degenerative bicuspid aortic valve with fusion of the right and left coronary cusps by an incomplete raphe. The appearance of the valve was consistent with severe aortic stenosis which was confirmed by hemodynamic Doppler assessment that revealed a peak gradient of 65 mm Hg, aortic valve area of 0.9 cm2 derived from the continuity equation and a dimensionless velocity index (DVI) of 0.24. Left ventricular function was normal with an ejection fraction (EF) of 59% by Simpson's method. Further evaluation of the aortic valve and aorto-iliac anatomy was pursued by a Multi-detector computed tomography (MDCT). It confirmed the morphology of a heavily calcific BAV, the absence of associated aortopathy, and suitability for transfemoral approach. The maximal aortic annulus dimension was measured as 25 mm with an aortic root diameter of 32 mm at the level of the sinuses of Valsalva. Coronary angiography was performed to screen for cardiac allograft vasculopathy (CAV) which did not show any evidence of obstructive coronary disease.
In addition, he was noted on admission to be bradycardic with episodes of second-degree mobitz type 2 atrio-ventricular (AV) heart block. Electrophysiology service was consulted and decided the need to upgrade his pacemaker to a dual-chamber system following the TAVI procedure.
His case was discussed at the Heart Valve Team meeting with a consensus that TAVI would be the optimal intervention strategy being a high-risk surgical candidate with a Society of Thoracic Surgery (STS) predicted risk of 30 days mortality of 7.035%.
The TAVI procedure was performed according to the standard local TAVI protocol. Vascular access was obtained with ultrasound guidance under local anesthesia and conscious sedation. Heparin (6000 units) was given intraoperatively to achieve an activated clotting time (ACT) greater than 250 seconds. A balloon expandable 29 mm Edwards Sapien 3 transcatheter heart valve (Edwards Lifesciences, Irvine, CA, USA) was advanced via the right femoral artery through the calcified, transplanted native aortic valve without prior balloon aortic valvuloplasty. Final positioning was confirmed by fluoroscopic guidance. Under rapid ventricular pacing, by temporary pacing wire via the left femoral vein, expansion of the prosthesis over the stenotic valve was accomplished with excellent results and no immediate complications. The total amount of contrast used was 60 mL and subsequent renal function tests were stable. His pacemaker was electively upgraded to a dual-chamber system the following day as planned earlier due to pre-existing high degree heart block. Pre-discharge TTE revealed a well-positioned aortic valve prosthesis with a peak and mean trans-prosthesis gradients of 14 mm Hg and 12 mm Hg respectively. There was no evidence of valvular or paravalvular regurgitation on color flow Doppler and the LV systolic function remained normal.
Patient showed immediate symptomatic and hemodynamic improvement and was discharged from hospital 48 hours post index procedure. He was maintained on his regular medication including the immunosuppressive therapy. At the routine 1-month clinic follow-up the patient was doing well and did not report any symptoms with no limitation of his physical activity (NYHA 1).
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pmc-6230650-1
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A 22-year-old female was admitted to the department of internal medicine because of fatigue, anorexia, upper abdominal pain, and mild jaundice. In addition to a fourfold elevation in aminotransferase levels, anti-smooth muscle antibody (ASMA) and antinuclear antibody (ANA) were also elevated (1/240, and 1/320, respectively). Abdominal ultrasound was done which showed mild enlargement of the liver with a homogenous pattern. The diagnosis of autoimmune hepatitis (AIH) was established after a liver biopsy. The patient had a history of vitiligo, which firstly appeared in the circumoral area at the age of 17 then spread to the feet, hands, scalp, inguina, and breasts. She started treatment of generalized vitiligo vulgaris with narrow-band ultraviolet B (UVB) radiation three times weekly with a topical corticosteroid (CS) for 6 months, yet only mild improvement has occurred. After that, she was maintained on oral CS and tacrolimus ointment (0.1%) with oral cholecalciferol (due to vitamin D deficiency; 25-hydroxyvitamin D = 15 ng/mL) for three months without satisfactory results. One year later, a vitiliginous patch started to appear at the hair roots in the forehead, so she started to get intralesional scalp triamcinolone 0.1% every week for 5 months without significant improvement. Autologous transplantation of melanocytes using suction blister method was done which was followed by incomplete repigmentation of the transplanted area. Eventually, the patient became depressed and relied only on cosmetic concealer techniques with vitamin D supplementation. The vitiligo became static in its course, and the patient refused to be engaged in any further therapeutic procedures. The patient also has a past history of allergic rhinitis since childhood, and her both parents had Hashimoto's thyroiditis.
On examination; the patient's height: 170 cm, weight: 67 kg, body mass index (BMI): 23.2 kg/m2, BP:90/70 mm Hg and pulse: 78 minutes. The patient was presented with a generalized form of vitiligo, based on numerous amelanotic patches on the hands, forearms, feet, face, and trunk. Mild jaundice and right hypochondrial tenderness were also detected.
Autoimmune and hormonal profiles were assessed. Because of mildly elevated TSH and anti-TPO (anti-thyroid peroxidase antibody) with normal free T4 and free T3 levels, Hashimoto's thyroiditis with subclinical hypothyroidism was diagnosed. Ultrasound neck revealed increased thyroid gland volume with heterogeneous hypoechoic pattern confirming the diagnosis. So, treatment with L-thyroxin 25 μg/d was sufficient to normalize the thyroid function.
Furthermore, complete blood picture showed mild leukopenia, macrocytic anemia, and thrombocytopenia [(Erythrocyte count (3.2 × 106/μL), hemoglobin (11.3 g/dL), MCV (109 fL), MCHC (35 g/dL), platelet count (132 × 103/μL), and leukocyte count (3.7 × 103/μL)]. The suspicion of pernicious anemia was raised. High titers of gastric parietal cells antibodies (APCA) and low vitamin B12 (3.7, normal range 145-914 pg/mL) confirmed the diagnosis. An upper gastrointestinal (GI) endoscopy was performed; the macroscopic and histological examination revealed the presence of atrophic gastritis. These data confirmed the presence of autoimmune gastritis with pernicious anemia.
Adrenal insufficiency and hypogonadism were excluded. Other autoantibodies were negative including islet-cells antibodies (ICA), glutamic acid decarboxylase autoantibodies (GAD Abs), and double-stranded DNA antibodies (Anti-ds DNA Ab) were negative. Based on the constellation of Hashimoto's thyroiditis, autoimmune gastritis, AIH, and vitiligo, APS III type (B + C) was diagnosed. The patient was discharged from the hospital on prednisolone 60 mg, 25 μg/d L-thyroxin, and injectable B12 replacement therapy. Liver enzymes were performed weekly which started to decline with improvement of the patient general condition.
The prednisolone was tapered over 4 weeks, and Aza 50 mg was introduced daily after achieving normal liver enzymes and improvement in the general condition of the patient. Two months later, surprising repigmentation of the feet and forearm vitiliginous patches were started. On the following visit after two months, the patient suffered from palpitation in concordance with decreased levels of TSH and anti-TPO. So, we started to decrease the dose of levothyroxine till stoppage after 3 month (Figure ).
During the following year, the only reported side effect was mild leukopenia (leukocyte count = 3.5 × 103/μL) which did not need a further intervention after hematological consultation. Now, she is maintained on Aza 25 mg daily and cholecalciferol 50 000 IU monthly. The patient is feeling quite fine, and more than 95% of vitiligo has improved together with remission of thyroid dysfunction (Figure ).
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pmc-6230650-2
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A 28-year-old man was admitted to the department of internal medicine because of fatigue, thirst, frequency, five-kilogram weight loss, diarrhea, and palpitation. The patient was diagnosed as type 1 diabetes mellitus (T1DM) at the age of 19 and was treated with intensive basal-bolus insulin therapy (70 units per day). He used to smoke around twenty cigarettes per day for ten years. The patient had no family history of APS, autoimmune thyroid disease or any other immunological disorders. On examination; his height: 157 cm, weight: 59 kg, body mass index (BMI): 23.9 kg/m2, BP: 100/70 mm Hg, pulse: 130 beat/min. Neurological examination revealed signs of distal symmetric polyneuropathy. His thyroid gland was just palpable without ophthalmopathy. Because of high blood glucose (350 mg/dL), acetone in urine, and metabolic acidosis, he was diagnosed as diabetic ketoacidosis (DKA).
Since low TSH, high free T4 (FT4), high free T3 (FT3), positive thyroid stimulating hormone receptor antibody (TRAb), and a diffuse homogenous thyroid gland enlargement with increased blood flow by thyroid ultrasound, Grave`s disease was diagnosed. After exclusion of all precipitating causes of DKA and confirming patient's adherence to treatment and diet, Grave`s disease (hyperthyroid state) was found to be the only precipitating cause of DKA. IV fluids, insulin infusion, Lugol`s iodine 50 mg with 30 mg carbimazole and propranolol 120 mg/d were started till the control of thyroid functions, and blood glucose was achieved after 10 days. The patient has discharged on insulin glargine 30 units, Aspart 25 units, 30 mg carbimazole, and propranolol 120 mg/d.
ICA, GAD, ASMA (1/240), and ANA Abs (1/160) were positive. Serum vitamin B12 (902 pg/mL) and complete blood count test were normal. Anti-ds DNA Ab and tissue transglutaminase antibodies were negative. Also, APCA, hepatitis B surface antigen (HBsAg) and hepatitis C virus antibody (HCVAb) were negative. Adrenal insufficiency and hypogonadism were excluded.
During the follow-up visits, the blood glucose was poorly controlled, and thyroid hormones were persistently high despite patient's adherence to treatment. The patient refused to proceed with surgery or radioactive iodine options. So, the dose of carbimazole was increased up to 90 mg/d, and propranolol to 240 mg/d followed by switching to propylthiouracil (PTU) at a dose of 900 mg/d. The patient's symptoms became controlled with high normal thyroid hormones. Normal liver functions and complete blood count test were assured every visit.
Six months later, the patient was hospitalized, owing to mild jaundice, and severe anorexia. Laboratory tests showed elevated levels of aminotransferases (AST = 277 IU/L, ALT = 313 IU/L) and total bilirubin (1.6 mg/dL). The most prevalent differential diagnoses included autoimmune hepatitis, PTU induced hepatitis, hepatitis viral infection, and Grave's disease. Since the patient had positive ANA, ASMA, and liver biopsy, and negative viral markers, the diagnosis of autoimmune hepatitis was settled. Based on the combination of Grave's disease, T1DM, and AIH, the diagnosis of APS III type (A + B) was established.
So, we started prednisolone 60 mg per day for one month accompanied with daily Aza 50 mg, and the blood glucose was closely monitored and controlled using insulin glargine 60 units,and Aspart 65 units per day. PTU was stopped with the introduction of 50 mg Lugol`s iodine. After remission of liver enzymes, PTU was reintroduced in stepping up doses in association with stepped down prednisolone till stoppage over 3 months then the patient was maintained daily on 50 mg Aza and 300 mg PTU.
During a year following Aza initiation, no side effects were reported, and the patient started to decrease the insulin dosage mutually with decreasing ICA Ab titer. Also, the thyroid function was controlled rapidly coinciding with the decline of thyroid antibodies to almost undetectable levels. Now, the patient is maintained on Aza 50 mg daily, insulin glargine 25 units, insulin Aspart 25 units, and anti-thyroid drugs were stopped (Figure ).
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pmc-6230651-1
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A 2-year-and-7-month-old, intact, female Springer Spaniel presented to a veterinary ophthalmology referral clinic with a 1-month history of a unilateral problem of the nictitating membrane. Sixteen days prior to referral, the patient was treated with an injection of amoxicillin trihydrate 150 mg/mL (Curamox Prolongatum®, Boehringer Ingelheim A/S, Copenhagen, Denmark), amoxicillin trihydrate and clavulanic acid 250 mg/12.5 mg (Clavubactin®, Dechra Veterinary Products A/S, Uldum, Denmark) a half tablet twice a day, and fusidic acid (Isathal®, Dechra Veterinary Products A/S) eye drops 10 mg/g in viscous vehicle one drop twice a day.
After 9 days, no improvement was observed and fusidic acid was discontinued. Topical dexamethasone sodium phosphate and chloramphenicol 1 mg/mL/5 mg/mL (Spersadex Comp®, Laboratoires THEA, Clermont-Ferrand, France) was instilled one drop twice a day.
On presentation, a protrusion of the right side nictitating membrane (NM) was evident. On the bulbar aspect of the NM, the tumor area was thickened to approximately 5 mm, flabby, and mildly hyperemic. Slit-lamp biomicroscopy (SL-17, Kowa Ltd., Nagoya, Japan) of the cornea, anterior chamber, iris, and lens was unremarkable. Indirect ophthalmoscopy was not performed. Schirmer tear testing (STT, Mark Blu Optitech Eyecare, Allahabad, India) was 20 mm/min OD and 19 mm/min OS. Intraocular pressure measured with applanation tonometry (Tonopen Vet Medtronic Solan, Reichert Technologies, Munich, Germany) was 20 mm Hg OD and 17 mm Hg OS. Direct and indirect pupillary light reflex, menace response, and palpebral reflexes were normal. Examination of the oral cavity showed no abnormal signs. The weight was 17.6 kg and, apart from the eye problem, the patient was agile and in a good health condition. No laboratory tests were performed at this time. Local treatment from the referring veterinarian continued in this period.
Six days later, the general condition was unchanged; however, the thickness of the NM had increased to 15 mm. The patient was sedated with intramuscular 0.2 mg/kg methadone hydrochloride (Comfortan® 10 mg/mL, Dechra Veterinary Products A/S), 2 µg/kg dexmedetomidine hydrochloride (Dexdomitor® 0.1 mg/mL, Orion Pharma Animal Health, Copenhagen, Denmark), and 5.7 µg/kg acepromazine (Plegicil® 10 mg/mL, Pharmaxin AB, Helsingborg, Sweden). After 20 minutes, the patient was induced with propofol (Propovet Multidose® 10 mg/mL, Zoetis Finland OY, Helsinki, Finland) in a catheter through the saphenous vein of the right side until effect, in total 35 mL. After endotracheal intubation, the patient was maintained on isoflurane (Attane Vet®, ScanVet Animal Health, Fredensborg, Denmark) saturated in 100% oxygen.
A transpalpebral ultrasound scan with linear probe SL 1543 (Esaote MyLab Gamma, Genova, Italy) revealed no bulbar or retrobulbar involvement. A small amount of fluid with a high number of neutrophils was retrieved with fine needle aspiration from the NM swelling.
On suspicion of an abscess or intramembranal foreign body, the membrane was bluntly opened caudal to the T-shaped cartilage. An amount of 0.5 to 1 mL pus-like fluid with two or three small foreign bodies resembling plant material escaped. The cavity was flushed through a contralateral opening with a 0.9% NaCl solution. Openings were left open for secondary intention healing.
Topical chloramphenicol (Kloramfenikol Viskouse DAK®, Takeda Pharma A/S, Taastrup, Denmark) and carprofen 50 mg 4 mg/kg per oral (Norodyl Vet®, ScanVet Animal Health) continued postoperatively. Due to the initial suspicion of an abscess and the fact that the patient was young, no staging for lymphoma was done at this point.
Another 6 days later, the NM protruded even more, but the patient still showed no discomfort. The swelling had become more firm and multinodular with no content of pus. A small sample of tissue of the NM was harvested for histopathology under general anesthesia. Postoperative medication continued unchanged.
The NM continued to enlarge for 2 weeks and started to cause the patient discomfort (Figure A). A decision to remove the NM was made. After standard pre-surgical procedure, the NM was lifted and a full resection performed with the openings left for secondary intention healing. Postsurgical treatment with chloramphenicol and carprofen continued. The tissue was submitted for histopathological investigation.
At follow-up 37 days after initial presentation, the eye was comfortable and the wound in the conjunctiva was healing properly. However, the general condition had deteriorated and the patient was now in poor condition. During the last days, the patient developed inappetence and depression, with moderate weight loss, a high temperature of 39.3°C, and generalized lymphadenopathy. While awaiting the result of the histopathology, a treatment with subcutaneously administered steroids against a suspected lymphoma was initiated with dexamethasone sodium phosphate 0.1 mg/kg (Rapidexon® 2 mg/mL, Dechra Veterinary Products A/S). The diagnosis of a malignant lymphoma in the NM was reported. Due to the initial suspicion of an abscess and the fact the patient initially presented with no other signs of affection, no staging was done initially. We could not determine whether this was a primary lymphoma disseminating or a secondary lymphoma disseminated from elsewhere in the body, because of the lacking initial staging.
The owner had decided not to continue treatment in case of a malignant disease, and thus, no further staging was done after the suspicion of lymphoma arose. The patient was euthanized and, in accordance with the owner's wish, samples from the patient could be used for scientific purposes.
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pmc-6230652-1
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A 71-year-old white female with no previous history of skin cancer presented to the clinic for evaluation of lesions on her face in addition to her annual skin check. Family history for skin cancer was unknown as the patient was adopted. A 3-mm translucent papule was noted on the left nasal ala and shaved for clinicopathologic evaluation to rule out cyst versus basal cell carcinoma (BCC) (Figure ). Additionally, a 4-mm pink papule on the right side of her nose was also shaved for histologic evaluation to rule out BCC. The 5 mm × 1 mm shave of the right side of nose returned as clusters of basaloid cells in the dermis with palisading nuclei and retraction spaces. A diagnosis of BCC was subsequently given and a Mohs resection was scheduled. The 3 mm × 1 mm shave biopsy of the left nostril showed expression of epithelial membrane antigen (EMA) and pankeratin, but not leukocyte common antigen (LCA). The laboratory reported a neoplasm of epithelial structure origin and recommended a second opinion. The pathology report for the second opinion noted cells of interest staining against AE-1/AE-3 in a perinuclear dot-like pattern. EMA was also focally positive in a perinuclear pattern, and LCA was negative. The pathologist noted features suspicious for MCC (Figure ) and recommended additional staining as well as complete re-excision. Further studies showed the sample stained positive for chromagranin and neurofilament and negative for thyroid transcription factor (TTF-1) Thus, the overall constellation of morphologic and immunohistochemical findings were compatible with a diagnosis of MCC. The patient was referred to the otolaryngologist who agreed with pursuing excisional biopsy of the left vestibular lesion.
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pmc-6230665-1
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A 31-year-old, gravida 4, para 1, woman was referred to our institute due to suspected fetal Pierre Robin sequence, at 34 + 6 weeks of gestation. A difficult intubation was anticipated, and the possibility of achieving surgical airway in an EXIT procedure was planned. The woman, which is known to have a bicornuate uterus, had previously undergone a cesarean section during her first labor due to breech presentation at 39 weeks of gestation. The child was born weighing 2710 g with micrognathia and cleft palate, not requiring an EXIT procedure. She also underwent two spontaneous abortions at 8 weeks of gestation. A prenatal magnetic resonance imaging (MRI) at 32 + 2 weeks of gestation (Figure ) and an ultrasound (US) demonstrated severe micrognathia. Fetal echocardiography and genetic consultation were normal. Amniocentesis was not performed due to maternal refusal. At 35 + 2 weeks of gestation, a two-dimensional US (Figure ) was repeated and a three-dimensional US was performed (Figure ) to evaluate in more detail the fetal anatomy and growth. US showed polyhydramnios, dropped tongue, posterior pharynx, and retrognathia-micrognathia. No palate was observed. While the delivery was planned to 37 weeks of gestation (for fetal lung maturity), at 35 + 3 weeks of gestation, the patient started feeling regular uterine contractions, and it seemed as she was going into spontaneous labor. Contraction stress test was negative, US showed breech presentation, and the blood pressure and pulse were within normal ranges. After a multidisciplinary discussion, the decision was made to deliver through a cesarean section with preparation for a possible EXIT procedure. Members of the team (including fetomaternal medicine/obstetricians, otolaryngologist, neonatologists, anesthesiologist, pediatric anesthesiologist, pediatric pulmonologist, midwifery, and neonatal intensive care unit nursing) were gathered to prepare for the delivery and perform an EXIT procedure to secure an airway if necessary. Due to breech presentation, bicornuate uterus (pregnancy in the left uterus), placental location (fundal posterior), low uterine segment dehiscence, and umbilical cord entanglement around the fetus neck (two complete loops), a classic EXIT procedure could not be performed. The plan was that after the delivery of the breech presentation newborn, the placenta would be left attached supplying oxygen to the newborn. Uterine muscle relaxants will be given to provide maximum time of placental oxygenation to the newborn to allow the otolaryngologist to secure temporary newborn airway. After pulsation will not be felt in the umbilical cord, it would be transected, and later, definitive airway will be established. Through a cesarean section, the baby which was not crying nor breathing spontaneously was delivered and put at a sterile table at the mother's right side with the umbilical cord intact utilizing a modified EXIT procedure. The total maternal blood loss did not exceed 1000 mL, and there were no signs of maternal hemodynamic compromise during the procedure or maternal postoperative decrease in hemoglobin values. A live 2975 g female infant with Apgar scores of 6 and 6 at 1 and 5 minutes, respectively, was born (appearance—2, pulse—2, grimace—1, activity—1, respiration—0). Not being able to breathe spontaneously, the baby demonstrated signs of upper airway obstruction. Initially, the team waited for signs of spontaneous breathing before any intervention; however, the neonate did not seem to be able to breathe on her own. Only then, when it was clear that airway support is essential for saving the baby's life, attempts for direct laryngoscopy were undergone. After two failed direct laryngoscopy attempts by the pediatric anesthesiologist, another attempt was made by the otolaryngologist, and since a direct clear vision of the larynx could not be achieved due to the severe micrognathia, a decision to perform a tracheotomy to ventilate and secure the neonate airway was made. A laryngeal mask was inserted, and then, a tracheotomy was performed. Blood gases from the umbilical cord showed pH level of 7.3. Birthweight was 2975 g. The neonate was transferred to the neonatal intensive care unit, was ventilated through a 3.0 neonatal Shiley tracheostomy tube, and was stable (Figure ). Cardiac echocardiography, abdominal US, and brain US were normal. The neonate was successfully disconnected from the ventilator 4 days after delivery and started breathing spontaneously (Figure ). Long-term airway management was planned, including distraction osteogenesis to attempt an improvement of airway dynamics, as well as cleft palate repair. At the age of 2 years, the toddler is healthy and achieved all the developmental milestones on time.
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pmc-6230671-1
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A 44-year-old Caucasian male presented with left facial swelling and otalgia. Physical examination demonstrated a left parotid mass. Computed tomography (CT) scan and magnetic resonance imaging (MRI) demonstrated a potential malignant lesion (Figure A,B), with involvement of the geniculate ganglion, labyrinthine, and tympanic segments of the left facial nerve was also identified (Figure C). Imaging did not demonstrate any lymph nodes in the neck.
The patient underwent a left total parotidectomy with sacrifice of the left facial nerve. Pathology revealed a 4.5 cm ACC with PNI, extension into intraparotid lymph nodes, and positive surgical margins. A postoperative CT scan demonstrated no gross residual disease in the parotid bed or neck (Figure A) but enhancing perineural spread of tumor was noted along the mastoid facial nerve segment extending to the geniculate ganglion (Figure B).
After multidisciplinary discussion, additional surgery was not favored due to treatment morbidity and a high risk of leaving behind residual disease. It was decided that an upfront GK-B to the disease in the skull base followed by concurrent chemoradiation would reduce radiation dose to the temporal lobe and brainstem compared to a simultaneous integrated photon boost plan. The GK-B was delivered upfront and prior to conventionally fractionated radiation because the invasive GK-SRS head frame would be better tolerated in the absence of radiation dermatitis.
Regarding GK-SRS treatment planning, the skull base and perineural disease including the geniculate ganglion and internal auditory canal was treated to 10 Gy prescribed to 50% isodose line utilizing 19 shots over 1 hour. The target volume of the GK-B was 976.8 mm3 and this received 100% of the prescription dose. The patient tolerated the procedure well and did not require steroids, pain medication or hospitalization. One week after completing GK-SRS the patient started 33 fractions of IMRT. He received 60 Gy to the tumor bed and 57-60 Gy to areas of subclinical disease risk. The positive margin disease below the GK-B volume that included residual disease in the stylomastoid foramen received 66-70 Gy. Treatment was delivered over 6.5 weeks with concurrent weekly cisplatin at 40 mg/m2.
During treatment, the patient developed ipsilateral hearing loss on audiology testing. Review of the composite treatment plan revealed that the cochlea received a mean dose of 75 Gy. At 1-year follow-up, a MRI of the face and skull base revealed no evidence of locoregional recurrence (Figure A,B). The patient continued to have left-sided hearing loss but no other treatment-related toxicities.
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pmc-6230672-1
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A 25-year-old male was referred from a primary care facility for the management of dentoalveolar fracture involving the left maxillary tuberosity during attempted extraction of maxillary left first molar. He had no known medical problems and no known allergies.
Upon examination, he presented with facial asymmetry with swelling occurring on his left face. The swelling was diffuse and slightly tender to palpation, involving the entire left buccal region from zygomatic arch to the border of the mandible. There was no limitation of mouth opening and no deviation of the mandible upon opening and closing of the mouth.
Intraorally, there was a mobile fracture segment seen on his left maxilla involving the left maxillary first, second, third molar and maxillary tuberosity. The segment was extremely mobile and extruded preventing full occlusion of his teeth. The maxillary left second premolar was firm. The maxillary left first molar had a large occlusal caries which extends subgingivally and was reported to be tender to percussion prior to the attempted extraction. There was a small laceration wound on the buccal gingiva adjacent to the upper left first molar measuring about 6 mm (Figure ).
As the diagnosis as well as the extent of the dentoalveolar fracture was able to be determined clinically, no radiographical examination was done for this patient.
As the patient was a young healthy male, and the maxillary second and third molar that was involved in the maxillary tuberosity fracture was sound, the authors decided on a conservative approach to reduce and stabilize the fractured segment followed by transalveolar extraction of the unrestorable maxillary first molar at a later date. As the patient was seen toward the end of the working day, the fracture was first stabilized using eyelet wiring and an appointment was set for the following day.
During his next appointment, closed reduction and fixation was achieved using upper and lower arch bars with intermaxillary fixation (IMF). At the end of this visit, occlusion was reachieved and the fracture segment was firm. The arch bars and IMF were left in situ for a period of 4 weeks to allow for healing of the fracture. The patient was placed on an antibiotic regimen of amoxicillin and metronidazole for 1 week to prevent infection as the upper left first molar had a large occlusal caries and was reported to be tender to percussion prior to the extraction. He was reviewed weekly to assess healing and to observe for signs of infection.
During the review on the fourth week, the IMF was removed to assess the healing of the fracture and the stability of the occlusion. Some minor mobility of the fracture was noted but was deemed acceptable. The arch bars were kept in-situ for one more week should the need to replace the IMF arise.
Upon review on the fifth week, the fracture segment was firm and occlusion was stable. There were no signs of active infection. The upper and lower arch bars were removed and a date for surgical removal of the upper left first molar was set for 1 month later (Figure ).
The carious upper left first molar was removed via surgical transalveolar approach with no complications.
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pmc-6230673-1
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The patient, a 23-year-old right-handed man, showed normal neuropsychological development. He had worked as a jockey and was thrown from a horse in 2007. The accident resulted in multiple traumatic brain injuries, including a left subdural hematoma, traumatic subarachnoid hemorrhage, and a diffuse axonal injury. The patient received therapeutic hypothermia and cerebral decompression, followed by cranioplasty and placement of a ventriculoperitoneal shunt to treat hydrocephalus. However, the patient suffered from sequelae, including right hemiplegia, right homonymous hemianopsia, and severe neuropsychological dysfunction. In 2009, the patient developed epilepsy; the patient experienced right-sided convulsive seizures and partial seizures that evolved into secondary generalized tonic–clonic seizures (sGTCs), several times. Combination treatment of valproic acid, phenytoin, and carbamazepine was able to suppress the sGTCs, although the patient suffered from other complex partial seizures (CPSs) that resulted in consciousness impairment lasting from approximately 10 seconds to several minutes.
From 2010, the patient repeatedly displayed the symptom of suddenly reaching out with his left hand toward someone nearby and grasping the person's arm or neck. This symptom led him to consult an epileptologist, who treated him with several anti-epilepsy drugs (AEDs); however, the patient did not respond to this treatment. In 2015, the patient was referred to our hospital and hospitalized for further examination and treatment.
Neurological examinations revealed right-sided hemiplegia, which was scored as 1 after manual muscle testing (MMT). Electroencephalography (EEG) revealed repetitive sharp waves, predominantly in the left frontal area, during sleep, which were thought to be interictal discharges (Figure ). Additionally, pseudocontinuous 3-Hz slow waves were observed in the left frontal area upon awakening.
We also repeatedly observed the symptomatic behavior in the patient. He reached out with his left hand to persons nearby and grasped and continually twisted the person's hand, neck, or clothes. He sometimes tried to grasp someone by leaning with his body when the target person was located a little far from him. We considered this symptom to be an R/G movement. This behavior tended to be caused by direct somatosensory stimulation, such as a nurse wiping his body, handing him an object, or supporting his body to transfer him from the bed to a wheelchair. The people grasped were visually perceived by the patient and the movement was not an automatic movement, without visual input. His right arm presented a dystonic posture during the R/G movement, despite an MMT score of 1. During this movement, the patient grimaced, which was occasionally accompanied by lacrimation, and consistent repetition of phrases such as “It's enough” and “I'm not sure.” We observed that his eye movement followed the target object movement, and noted that the R/G movement rarely happened when we blocked his vision by placing a towel over his eyes.
The onset and offset of the R/G movement were clear, and the average duration ranged between several seconds and several minutes in the absence of a stimulus of the symptom, such as continued somatosensory stimulation. While the patient could not recall his actions during the R/G movement, he often guessed what had happened and apologized immediately afterward (Video , Table ). We found that his consciousness was altered, because he could not respond at all during the R/G movement. Likewise, he could not recall any word when asked to recall a given word during the R/G movement episode. The patient also exhibited a partial convulsion localized to the right leg for several seconds, which we concluded to be a part of the seizure, despite the right-sided hemiplegia, although the date of onset of this symptom was not determined.
In a long-term (4-day) EEG, we were not able to detect any obvious ictal discharge, except for the electromyogram (EMG) during the R/G movement, although we observed the movement more than 10 times during this period. Magnetic resonance imaging (MRI; Figure ) revealed atrophy and high-intensity areas in the fluid-attenuated inversion recovery scan in the left temporal pole, the interior surface of the left frontal lobe, the left basal ganglia, and the bilateral medial frontal lobe. In particular, a high-intensity area, which appears to be an area of degeneration due to trauma, was observed in the right pre-SMA, which could have been related to the R/G movement. We finally concluded that the patient's R/G movement was an epileptic seizure caused by traumatic brain injury, and was not a psychiatric symptom. Notably, the sudden onset and offset of the symptom and the pattern and repetition of the symptom strongly support the theory that the symptom was part of an epileptic seizure.
A treatment plan of AEDs, including lamotrigine, levetiracetam, clobazam, topiramate, valproic acid, gabapentin, phenobarbital, perampanel, and lacosamide (in turn) has been maintained for more than 2 years, along with vagus nerve stimulation (VNS). We found that the R/G movement persisted, although the number of R/G movements decreased slightly from more than 30 times a day before treatment to 2-20 times per day after treatment.
We obtained consent from the patient and his parents for the use of his clinical information, including the seizure video, after we explained that the patient's private information would be completely protected and there would be no disadvantages if they chose to decline this proposal.
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pmc-6230718-1
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A 68-years-old Hispanic man with chronic depression and anxiety, complained of night sweats, low grade fewer, and unexplained weight loss over 3 months. He had also 3 months of difficulty managing finances and keeping track of appointments. Abdominal tomography showed multiple intra-abdominal adenopathy and biopsy confirmed classic Hodgkin's lymphoma, of nodular sclerotic variety. He commenced treatment with ABVD chemotherapy (adriamycin, vinblastine, bleomycin, and dacarbazine). Six months after first presentation of the cognitive problems, he had acute onset of disorientation, inattention, psychomotor agitation, confusion, delusional ideas of grandiosity, auditory hallucinations, and alterations of anterograde memory. His score was 20/30 on the Montreal Cognitive Assessment (MoCA) suggesting severe cognitive impairment. Two days later, the patient developed multiple episodes of psychomotor agitation and was unresponsive to a combination of neuroleptics and benzodiazepines. These neuropsychiatric changes were not attributed to the ongoing stable treatment with ABVD chemotherapy. Brain MRI showed a small established cerebellar infarction. Electroencephalogram was normal. Tests for metabolic encephalopathies were negative: complete blood cell count, calcium, magnesium, phosphorus, liver function tests, erythrocyte sedimentation rate, antinuclear antibody, C-reactive protein, thyroid-stimulating hormone, antithyroglobulin, antithyroperoxidase antibodies, cortisol, vitamin B12, and laboratory tests for toxicology. Human immunodeficiency virus and rapid plasma reagin were negative. One oligoclonal IgG bands was found in the CSF, which was not observed in corresponding serum, but cell count and proteins were normal. CSF Gram stain and culture were negative. Extensive testing for infectious encephalitis was unremarkable (CSF PCR for E. coli K1, H. influenzae, L. monocytogenes, N. meningitidis, S. agalactiae, S. pneumoniae, Cytomegalovirus, Enterovirus, Herpes simplex 1 and 2, Herpes 6, Parechovirus, Varicella zoster, and Cryptococcus neoformans). The patient fulfilled the diagnostic criteria by Gultekin et al. for paraneoplastic limbic encephalitis (PLE) () and methylprednisolone one gram daily for 5 days was given. The patient recovered rapidly, with progressive improvement in memory and psychomotor agitation. CSF testing for commercially available neural and non-neural autoantibodies was negative (including against the N-Methyl-D-aspartate (NMDA) receptor, AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid) receptor, and VGKC (voltage-gated potassium channel complex). No informative autoantibodies were detected in the CSF paraneoplastic evaluation. AGNA-1 [Anti-Glial Nuclear antibody (Ab)], Amphiphysin Ab, ANNA-1, 2 and 3 (antineuronal nuclear Ab), CRMP-5-IgG (Collapsin response-mediator protein-5), PCA-1, 2, and 3 (Purkinje Cell Cytoplasmic Ab). Further testing of CSF for antibodies to metabotropic glutamate receptor 5 (mGluR5) was positive on cell based assay and immunohistochemistry (). This CSF sample was drawn before starting systemic steroids. At 30-days follow-up, the patient evolved oriented, attentive, without psychomotor agitation. MoCA was 30/30. He remains amnesic with respect to the hospitalization period, but with conservation of other memory modalities. Follow-up CT scan and EEG were unremarkable.
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pmc-6230755-1
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A 63-year-old female of Bangladeshi origin presented to an Emergency Department in London, United Kingdom, in 2015 with a four day history of fever, rigors and right upper quadrant pain. She had been recently diagnosed with metastatic pancreatic cancer, and had an internal biliary stent inserted six weeks prior to admission. Two weeks prior to admission, the patient had attended hospital as a day case for a liver biopsy, at which time a rectal screening swab for carbapenemase-producing organisms was taken, which grew K. pneumoniae. Automated antimicrobial-sensitivity testing (AST) was performed using the Becton Dickinson Phoenix platform (BD Diagnostics) according to the European Committee on Antimicrobial Susceptibility Testing (EUCAST) guidelines. The isolate was resistant to co-amoxiclav, piperacillin/tazobactam, ceftriaxone, ceftazidime, temocillin, ertapenem, meropenem, gentamicin, amikacin, tobramycin, ciprofloxacin, levofloxacin, trimethoprim/sulfamethoxazole and fosfomycin, and susceptible to colistin, tigecycline and nitrofurantoin. Minimum inhibitory concentrations (MICs) as determined by Etest (bioMérieux) were 128 µg/ml for meropenem and 8 µg/ml for ertapenem. A positive result for the combination disc synergy test (Rosco Diagnostica) between meropenem and dipicolinic acid indicated the possible presence of a metallo-β-lactamase.
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pmc-6230756-1
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A previously well four-and-a-half year-old boy presented with an upper respiratory tract infection, loss of appetite, fatigue and increasing breathlessness in the past 1 week before admission. There was no history of chest pain, cyanosis, joint pain or swelling. Predisposing factors, such as congenital cardiac disease, were excluded by review of the patient’s medical records. The patient received treatment in a primary care centre before being admitted to hospital. On examination, he was tachypnoeic and pale, with clammy extremities. His heart rate was 90 beats min−1, respiratory rate 30 breaths min−1, blood pressure 100/60 mmHg and temperature 37 °C. There was a mild face and lower limb oedema. On cardiac examination, there was decreased cardiac impulse on palpation. Heart sounds were muffled and no murmur was heard. His liver was palpable 3 cm below the costal angle. Pulses were palpable and equal in all four extremities. Laboratory examinations revealed a normal haemoglobin level of 132 g l−1 with a slightly increased white blood cell count (15 900 cells mm−3), whereas the platelet count was within normal limits (342 000 platelets mm−3). Unfortunately, cardiac markers such as troponin, creatinine kinase (CK) and its MB isoenzyme (CK-MB) were not tested due to limited resources. Chest X-ray showed cardiomegaly with congested lungs. Electrocardiography (ECG) revealed a sinus rhythm with a heart rate of 136 beats min−1. There was a normal P wave with slightly prolonged PR interval (>0.2 s). The QRS axis was normal and a possible left ventricular hypertrophy. There was no obvious ST change. Informed consent for patient management was taken by the clinician in the hospital before examination.
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pmc-6230757-1
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A 30-year-old male was admitted to a cardiology institute with complaints of low grade intermittent fever and progressive shortness of breath for the previous two months. He was a known case of rheumatic heart disease and had suffered an episode of IE three years ago. He was a non-smoker with no history of intravenous drug abuse and was linked to a construction business but presently unemployed due to failing health. On general physical examination, the patient had low grade fever (99 °F), tachycardia (110 beats min−1), hypotension (90/60 mm Hg), mild pallor and bilateral pitting ankle edema.
Chest auscultation revealed displaced apex beat and pan- systolic murmur radiating to axilla with bilateral basal crepitation. Massive cardiomegaly with interstitial edema and bilateral mild pleural effusion was seen on plain chest X-ray. 2D-Echocardiography revealed a dilated left ventricle, severe aortic and mitral regurgitation, with ejection fraction reduced to 30 %. Trans-esophageal echocardiography showed a deformed calcified mitral valve and large 14×17 mm vegetation on the aortic valve, dilated left ventricle and grade 3 mitral and aortic regurgitation. With mild anaemia and normal biochemical profile on lab testing, his generalized condition started deteriorating over the next two days with high grade fever, neutrophil leukocytosis (15.5×109 l−1) and markedly raised C-reactive protein (96 mg dl−1). Empirical antimicrobial treatment consisting of intravenous Ceftriaxone 2 g IV once daily, Gentamicin 60 mg IV 8 hourly and Vancomycin 120 mg 8 hourly (target trough concentration of 15–20 µg ml−1) was initiated.
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pmc-6230758-1
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The following is a case presentation of a 59-year-old white male with a past medical history significant for depression and alcohol abuse, who was admitted to the emergency department at the University of Kentucky Albert B. Chandler Medical Center, Lexington, KY, USA, in spring 2017 with encephalopathy after being found fallen down in the woods. The patient was intubated prior to arrival due to altered mentation. Home medications included dexlansoprazole, venlafaxine, hydroxyzine, sulfasalazine, triamcinolone cream and amitriptyline. According to the patient’s pharmacy, he had no known medication allergies. The patient’s family was unable to provide an extensive past medical history, but indicated the patient lived alone in a cabin in the woods.
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pmc-6230759-1
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A 56-year-old Nepalese man presenting with chief complaints of frequent wheezing, nausea, vomiting, joint pain and abdominal cramps was admitted to Sumeru Hospital on 15 November 2016. His past history revealed: COPD, systemic hypertension and formerly treated pulmonary tuberculosis. The patient had been under oral steroid therapy (prednisone 60 mg gl−1) 3 months previously, tapered to 5 mg with symptomatic improvement. Twelve days prior to presentation at Sumeru Hospital (3 November 2016), he was admitted to a local hospital with a diagnosis of acute gastritis with acute exacerbated COPD for 2 days. He was given intravenous ceftriaxone 2 g once daily, azithromycin 500 mg once daily, methylprednisone 40 mg three times daily, and salbutamol and ipratropium bromide nebulizer at that time. The prednisolone was given for a total of 8 days. Nonetheless, his pulmonary condition worsened with haemoptysis, chest tightness and increased cough.
On arrival at the emergency Intensive Care Unit, he was found to be hypotensive, hypoxaemic and febrile. Meanwhile, body temperature (37.78 °C), blood pressure (78/35 mmHg) and arterial partial pressure of oxygen (PaO2) (69 mmHg) were noted. Physical examination of the abdomen revealed epigastric tenderness but no hepatosplenomegaly. No oedema, cyanosis or clubbing was noted. Consequently, he was given a preliminary diagnosis of septic shock from an abdominal source and acute respiratory failure. Concurrently, mechanical ventilation, aggressive volume resuscitation and vasopressor support were rapidly begun. Piperacillin/tazobactam was administered empirically as an anti-infection treatment.
On radiological assessment, chest X-ray showed collapse consolidation with pleural effusion on the right lower lobe, hilar lymph nodes and cardiomegaly (). Correspondingly, serology was negative for human immunodeficient virus (HIV), hepatitis B surface antigen (HBsAg) and hepatitis C virus (HCV); C-reactive protein had increased to 110 mg l−1 (normal, <10), white blood cell count to 16.5×109 cells l−1 (normal, 4.0–10.0), with neutrophil percentage of 92 % (normal, 50–70 %) and four eosinophils counted. However, haemoglobin concentration, coagulation-related test, platelet count, renal function tests (RFTs) and liver function tests (LFTs) were within the normal range.
A flexible bronchoscopy was performed on day 2 of admission; on bronchoscopy severe diffuse alveolar haemorrhage was seen. Therefore, microbiological examination of broncho-alveolar lavage (BAL) was recommended. Upon examination of an acid-fast bacilli (AFB) stain preparation of BAL, filariform larvae of Strongyloides stercoralis were seen but no AFB were found (). Neither fungal elements nor malignant cells were detected on subsequent fungal staining and cytological examination. With wet preparation of a stool specimen, numerous larvae of S.stercoralis were seen (Video S1 and Fig. S1, available in the online version of this article). Gradually, the physical condition of patient began to deteriorate and a few days after admission vancomycin-sensitive Enterococcus faecium was isolated from his blood sample. Therefore, treatment with piperacillin/tazobactam was stopped, and specific treatment was started for strongyloides hyper-infection syndrome.
He was then treated with ivermectin and albendazole for strongyloides with repeated daily stool examination to verify eradication and to exclude indwelling other parasitic infections. On day 1, the wet preparation of stool and sputum revealed actively motile larvae of S. stercoralis. After treatment with ivermectin (8000 µg po qd pc) and albendazole (400 mg po bid) larval counts reduced significantly to nil in the stool sample from day 4. Although the count reduced significantly, the species was found to be motile in sputum samples until day 5. The detailed treatment protocol, duration of treatment and parasite examinations of stool and sputum are shown in . Simultaneously, linezolid plus vancomycin was prescribed for two different strains of E. faecium.
On day 4 after admission, laboratory results revealed C-reactive protein level had doubled to 220 mg l−1. His white blood cell count had decreased to 2.9×109 cells l−1 but eosinophil count was elevated to 10. Similarly, his haemoglobin concentration decreased to 48 g l−1 and platelet count was 7×109 cells l−1. Furthermore, total bilirubin level increased to 103 mmol l−1. A brief blood investigation report is presented in .
Although the number of larvae was dramatically reduced, the patient developed a high-grade fever, vomiting, lower abdominal pain, abdominal distention and constipation, dyspnoea, wheezing and pleuric pain, and ARDS. He was therefore mechanically ventilated. However, his condition worsened and he died on day 6 after admission. The results of blood tests on the last day are presented in . Brief details from the patient’s history and diagnostic approaches are organized as a timeline in Fig. S2.
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pmc-6230760-1
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A 36-year-old woman with a history of chronic kidney failure, under thrice-weekly haemodialysis since 2014 due to polycystic kidney disease, presented with hypogastric pain, left lower quadrant pain and nausea. Since 1997, the patient had developed several episodes of urinary tract infection (UTI). The last UTI occurred one month before hospitalization, and she received ciprofloxacin treatment. On admission, she also presented tenderness in the lower abdomen and fist positive lumbar percussion. Laboratory testing revealed 9800 white blood cells mm−3 and elevated urea and creatinine levels (158 mg dl−1 and 10.2 mg dl−1, respectively).
Kidney ultrasound revealed a bilateral 30 mm pyelocalyceal dilatation and multiple cysts in both kidneys.
The midstream urine sample was subject to microbiological testing. The urine testing showed 15–20 leukocytes per high-power field (HPF) and 2–5 erythrocyte per HPF. The urine sample was aerobically cultured on CLDE agar (Britania) and on chromogenic agar CPS ID medium (bioMérieux) at 35 °C. Urine culture showed significant bacterial growth (>105 c.f.u. ml−1). Slightly glistening colonies of 1 mm in diameter were observed after a 24 h incubation. Gram staining showed coryneform Gram-positive rods.
The isolate was identified by using conventional biochemical tests according to the identification scheme proposed by Funke et al. and adapted by Bernard []. Colonies were about 1–1.5 mm in diameter after 24 h (non-lipophilic colonies). Catalase reaction was positive, fermentative metabolism was observed as well as a strong positive CAMP reaction. Pyrazinamidase and alkaline phosphatase were also positive. Nitrate reduction, β-glucuronidase, β-galactosidase, α-glucosidase, N-acetyl-β-glucosaminidase, aesculin, gelatin hydrolysis and urease were all negative. Acid was only produced from glucose.
Mass spectra were acquired using a MALDI–TOF MS spectrometer in a linear positive mode (Microflex, Bruker Daltonics) and were analyzed in an m/z range of 2.000 to 20.000. The MALDI Biotyper library version 3.0 and MALDI Biotyper software version 3.1 were used for bacterial identification. The MALDI–TOF MS analysis showed a score of 1.979 for Corynebacterium coyleae.
Antimicrobial susceptibility was determined using the E-test technique (bioMérieux) on Mueller–Hinton agar supplemented with 5 % sheep blood and the inoculum size was equivalent to a No. 0.5 Mc Farland standard []. Plates were incubated aerobically at 37 °C for 24 h. Minimum inhibitory concentration (MIC) results showed resistance to penicillin (8 µg ml−1), ceftriaxone (32 µg ml−1), trimethoprim-sulfamethoxazole (TMS) (64 µg ml−1), susceptibility to vancomycin (0.5 µg ml−1), and intermediate susceptibility to ciprofloxacin (2 µg ml−1). The interpretative categories for the MICs obtained were used following Clinical and Laboratory Standards Institute (CLSI), M45 [].
The patient was diagnosed as having a complicated urinary tract infection. She was empirically treated with piperacillin–tazobactam at 2.25 g every 12 h and 750 mg post-haemodialysis and then rotated to ciprofloxacin 400 mg every 12 h for 14 days. Due to her clinical condition (chronic kidney failure, polycystic kidneys) and several recurrent urinary tract infections, a bilateral nephrectomy was performed on the fourth hospitalization day. A supraumbilical laparotomy was carried out and a splenectomy was performed due to surgical complications.
Two samples of kidney tissue were sent for culture ().
Direct examination of the material revealed the presence of abundant inflammatory reaction and Gram-stain-positive diphtheroid rods.
Since no microbial growth was observed at 24 h incubation, neither in 5 % sheep blood agar nor in chocolate agar incubated in 5 % CO2, we inoculated a bottle of Bactec Aerobic/F culture medium in order to neutralize the antibiotic effect from both samples. Culture plates were incubated for several days, however, at 24 h a positive culture was obtained from Bactec Aerobic/F culture medium. The organism was identified using MALDI–TOF and conventional biochemical tests, and in both isolates further identification was performed by PCR amplification and sequence analysis of the rpoB gene. The PCR product of the rpoB gene, using the primers described by Khamis et al. [] was generated with Taq DNA polymerase based on the manufacturer’s specifications (Qiagen). Sequencing of the 450 bp PCR product was performed on both DNA strands using an ABI Prism 3100 BioAnalyzer equipment at the Macrogen Inc. sequencing facility, Seoul, Republic of Korea. The sequences were analysed with the blast V2.0 software (). Sequence analysis revealed a 96 % identity with the sequences corresponding to the rpoB gene of Corynebacterium coyleae. The GenBank accession number for the rpoB gene sequence is MG764567.
To determine the relatedness of the two strains, a PCR assay using degenerate oligonucleotide primers (DO-PCR) [] was carried out. The DNA amplification pattern obtained by DO-PCR was identical in both samples (urine and kidney tissue; ).
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pmc-6230761-1
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A 5-year-old, castrated-male German shepherd dog was presented for an approximately 2 month history of alternating hindlimb and forelimb lameness. On physical examination, the carpi and elbows were warm, painful and effusive bilaterally. Cytological examination of synovial fluid obtained via arthrocentesis from the left and right elbows and carpi revealed suppurative inflammation, but no infectious agents were identified. Culture of synovial fluid was negative by aerobic culture. The dog also had intermittent, chronic diarrhoea for approximately 3 months and had lost approximately 23 % (10 kg) of its overall body weight. Faecal culture was negative for Campylobacter and Salmonella, and a faecal float was free of parasites. The patient was antibody negative for Ehrlichia, Anaplasma and Borrelia by SNAP 4Dx (Idexx Laboratories) and Bartonella by Western blot (National Veterinary Laboratory, Franklin Lakes, NJ, USA). Urinalysis was not performed initially. The patient was diagnosed with IMPA and treated with immunosuppressive doses of prednisone (1.1 mg kg−1 twice daily for approximately 5 months, including a tapered regimen). Tylosin powder [Elanco (Tylan Powder)] (1/2 teaspoon once daily for 21 days) and omeprazole [Procter and Gamble (Prilosec OTC)] (1 mg kg−1 once daily pro re nata) were prescribed for the chronic diarrhoea. The owner also began a commercial, limited ingredient diet (Blue Buffalo).
At recheck, 10 weeks after diagnosis of IMPA, the patient's orthopaedic pain was well managed, the effusion had grossly resolved and the diarrhoea had subsided. While the patient did not exhibit any signs of lower urinary tract disease, malodorous urine was noted during the examination.
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pmc-6230967-1
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A 40-years-old male non-smoker presented to chest outpatient department with complaints of recurrent mild haemoptysis for 2 months, which was progressive in nature. Chest radiograph revealed a 2.5 × 2 cm lesion in the posterior segment of the right upper lobe of the lung (). The medical history was noncontributory. A computed tomographic (CT) scan of the chest confirmed the chest radiograph findings; a solid mass was noted in the posterior segment of the right upper lobe of the lung (). There was no hilar lymphadenopathy. Sputum microscopy, culture, and cytological examination were essentially normal. The ESR was 18, the haemoglobin 15.5 g/dL, and the leukocyte count 9.6 × 109/L. The other serum haematological and biochemical results were normal. In view of the patient's ongoing haemoptysis and lack of response to antibiotics he underwent bronchoscopy which revealed a growth in right upper lobe with endobronchial obstruction. At the same time endobronchial biopsy was taken which was sent for histopathological examination. Microscopically, the biopsy showed a heavy inflammatory cell infiltrate composed predominantly of lymphocytes, with plasma cells and histiocytes. Foamy histiocytes with macrophages were also seen, as well as occasional eosinophils and neutrophils. Focal areas of micro-abscess formation with necrosis were also noted. A marked degree of fibrosis was present with proliferating myofibroblasts. The histological characteristics were compatible with an inflammatory myofibroblastic pseudotumour (). On immunohistochemistry, vimentin, SMA, ALK-1 and desmin were positive, further corroborating the diagnosis (). Surgery, for diagnostic and therapeutic purposes, consisted of a right pneumonectomy. The postoperative course was uneventful, the patient was discharged from the hospital one week later and his symptoms improved.
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pmc-6230968-1
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A 37 years-old unmarried premenopausal female presented in the emergency of our hospital with complaints of bleeding from ulcerative lesion in the left breast for a couple of hours. The patient had history of ulcer in the left breast for past 2–3 weeks which developed over the underlying huge breast lump. The lump was present for past 5 months but rapidly grew over the last 3 months to current size. There was no history of coagulopathy, trauma, chronic liver disease or history of similar illness in first degree relatives. The patient attained menarche at the age of 15 years. She is a non-smoker and denies history of contraceptive use or alcohol intake.
On examination in our emergency there was severe pallor with tachycardia. However the blood pressure was maintained. There was an oozing ulceration in upper outer quadrant of the left breast with underlying huge lump measuring 15 × 15 cm occupying the upper outer, lower outer and upper inner quadrants with deformed shape of the breast (a). The skin surrounding the ulcer was erythematous and edematous. Axilla did not show lymphadenopathy.
Before the development of breast lump, the patient had itchy lesion at the same site. The patient unfortunately attributed all these events to that itchy lesion and sought help late. There was no history of headache, shortness of breath, abdominal distension or bone pain.
On investigating the patient, she was severely anemic with hemoglobin of 5 gm% with normal total and differential counts. Coagulation parameters and liver function tests were normal. Chest X-ray showed no evidence of metastasis other than dense breast shadow on left side due to huge breast lump(a).
Mammogram revealed homogeneous radiodense lobulated mass occupying whole of left breast with subcutaneous thickening on the background of dense breast (b). Ultrasound (USG) of abdomen and pelvis did not reveal any abnormal findings. Trucut biopsy from the breast mass showed necrotic areas with fibrocollagenous tissue with proliferation of oval to elongated spindle cells showing mild degree of atypia.
After discussion about the possibility of metaplastic versus malignant phyllodes tumor, the patient underwent modified radical mastectomy (MRM). Histopathological examination showed maximum tumor size of 14 cm with increased stromal cellularity, loss of stromal-epithelial balance and frequent mitoses more than 45 per 10 high power fields () typical of malignant phyllodes. All the resected margins, nipple and areola were free of tumor. Lymphovascular and perineural invasions were not identified. Seventeen axillary nodes retrieved were free of tumor.
Postoperatively patient gained weight and was doing well. Three months after surgery, the patient started developing progressively increasing headache, nausea and vomiting for which she got admitted in our center. There was no local recurrence. However on further investigations, she had a huge cystic lesion with mural nodule in her brain (b,c,d). Contrast enhanced computed tomography (CECT) of chest, abdomen and pelvis showed lesions in lower lobe of left lung (a) of size 3.9 × 3.6 cm of +40 Hounsfield unit (HU) in posterobasal segment and right adrenal gland () of 5.8 × 5.1 cm of +30HU with significant enhancement in post-contrast images. Functional evaluation for the adrenal mass with urinary metanephrines and serum cortisol was negative. Patient refused biopsy from right adrenal gland and lung, but while preparing for burrhole biopsy from brain, patient succumbed to the disease. The patient underwent serial ultrasound of abdomen and pelvis during hospital stay which showed increase in size of 4 cm of adrenal mass in 15 days (tumor velocity).
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pmc-6230986-1
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A 63 year-old gentleman with known hypertension presented in October 2016 with diffuse bony aches, polyuria, polydipsia, constipation, fatigue, loss of appetite, and weight loss of 25 pounds over two months. Biochemical testing revealed normal thyroid function tests but an elevated serum calcium of 4.17 mmol/L (Normal range 2.2–2.5), phosphate 1.4 mmol/L (0.74–1.52), parathyroid hormone (PTH) 168.2 pmol/L (1.6–9.4), serum creatinine 237 umol/L (64–111), glomerular filtration rate (GFR) 24 (>60), 24 h urinary calcium 13.89 mmol/day (2.5–7.5). His past medical history was remarkable for a kidney stone 12 years earlier although he denied bony fractures of the spine and hips or renal dysfunction. Family history was non-contributory with no known history of parathyroid disease or endocrine neoplasia.
His treating physicians noted a left thyroid nodule and a left neck node which was biopsied; cytologic examination revealed features suspicious for a neuroendocrine neoplasm. He underwent a total thyroidectomy with central and left neck node dissection. Review of the pathology in the thyroidectomy specimen revealed that the index thyroid mass was indeed an infiltrative intrathyroidal neuroendocrine tumor (Figure ) that measured 2.7 cm and had multiple foci of vascular invasion characterized by intravascular tumor cells admixed with thrombus (Figure ). There was single cell tumor necrosis. Mitoses, including atypical mitoses, were conspicuous and a phospho-histone 3 (pHH3)-assisted mitotic count identified 26 mitotic figures per 50 high power fields. The tumor was positive for keratins using the CAM5.2 and CK7 antibodies, CD56, chromogranin, PTH (Figure ), and GATA-3 (Figure ), confirming that it was indeed a parathyroid neoplasm; it was negative for CK20, S100, CD5, Pax-8, TTF-1, thyroglobulin, CEA, and calcitonin. The case was then evaluated to confirm biomarkers of malignancy in parathyroid tumors. It was positive for Galectin-3 (Figure ); The Ki67 labeling index was 19.6% in an automated count of 1158 cells (Leica Biosystems; Figure ), there was reduced expression of BCL-2 and focal upregulation of cyclin D1 and p53. There was no loss of RB but marked reduction of p27. Staining for menin was technically unsatisfactory. There was loss of nuclear parafibromin reactivity (Figure ) and PGP 9.5 was positive (Figure ).
The painted margin of resection of the thyroidectomy was negative for malignancy, however, metastatic parathyroid carcinoma was identified in one left perithyroidal lymph node included in the total thyroidectomy and central neck dissection specimen and in one of 38 lymph nodes from the left neck dissection specimen. A left inferior parathyroid gland was biopsied and had normal morphology.
Elsewhere in the thyroid there was an incidental 0.05 cm classical variant papillary microcarcinoma.
Post-operatively, he noted a marked improvement in his symptoms with reduction of corrected serum calcium to 2.58 mmol/L and PTH to 12.9 pmol/L. However a few months later, his PTH level remained elevated precipitating a referral to our institution. Our investigations yielded the following findings: serum PTH of 27.7 pmol/L (1.3–7.6), corrected calcium 2.84 mmol/L (2.32–2.62), phosphate 0.55 mmol/L (0.8–1.4), 25(OH) vitamin D3 84 nmol/L (25–200), ALP 43 U/L (40–150), creatinine 107 umol/L (64–110), and calculated GFR 64 ml/min/1.73 m2 (> 60). CT imaging identified no visible disease in the neck but multiple pulmonary nodules consistent with metastatic disease were noted (Figure ). An abdominal ultrasound showed multiple renal cysts. Nuclear octreotide scintigraphy was completely negative.
Based on the clinical findings genetic testing was performed with sequencing and deletion/duplication analysis of CDC73. No pathogenic variants were detected. He was started on denosumab 120 mg subcutaneously monthly to help control his hypercalcemia. To control his structural metastatic disease, targeted therapy with sorafenib 400 mg orally twice daily was started. Three months later, CT imaging showed early regression of the lung nodules (Figure ).
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pmc-6230987-1
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A 3 months old girl with a background of antenatally diagnosed CHD presented to outpatient department clinic with central cyanosis and significant inconsolable agitation. On examination, no murmurs were audible and oxygen saturation was shown to be between 48 and 66%. Immediate management was initiated with knee-to-chest positioning, intravenous fluid and morphine administration. This episode lasted for about 15 min.
The history revealed that this infant was born to a pair of non-consanguineous afro-Caribbean parents and was diagnosed antenatally in the second trimester with tetralogy of Fallot, followed by intrauterine growth restriction in the third trimester. Her birth was unremarkable, with vaginal delivery at term, weight 2.45 kg and APGAR scores of 9. Her genetic analysis showed a normal karyotype with no evidence of 22q11 deletion. Her baseline oxygen saturation was around 95% on room air and she had a grade 4/6 ejection systolic murmur.
After hospital admission for her first cyanotic spell, she was commenced on oral beta blockers and her oxygen saturations stabilized between 85 and 90% on room air, without any further hypoxic spells during her stay. She was then discharged home. Subsequently, she was re-admitted to hospital with recurrence of cyanosis and she suffered from multiple cyanotic spells daily over the course of this second hospital stay. These spells increased in frequency and length proportional to the length her stay; the longest spell lasting for more than 30 min. Despite medical management with posture adjustment, morphine use, fluid boluses and incremental increase in beta blockade (up to 2 mg/kg/dose), she did not show any improvement. In a span of a week, her baseline oxygen saturation had dropped from 85 to 70%; and oxygen saturation during a cyanotic spell was as low as 40%.
Echocardiography confirmed the pre-natal diagnosis showing the morphology of tetralogy of Fallot with hypoplastic main pulmonary artery, right aortic arch, retro-aortic innominate vein, single right superior vena cava, and a normal coronary arteries pattern (Figure ). Surgical repair of tetralogy of Fallot was planned during this hospital admission, at an age of 4 months and body weight of 4.67 kg. Operation was performed through median sternotomy, with normothermic cardio-pulmonary bypass, and consisted of patch closure of the ventricular septal defect and relief of the right ventricular outflow tract obstruction with resection of the infundibular obstruction and transannular patch extended to the main pulmonary artery.
The post-operative course was uneventful. Pre-discharge echocardiography showed good cardiac function and no residual intra-cardiac defects. Her post-operative oxygen saturation was 97% on room air and she remains clinically stable in good condition 2 months after hospital discharge.
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pmc-6231150-1
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A male patient aged 68 years referred, complaining of inability to speak and eat properly due to missing teeth. He had been wearing dentures for the past 8 years. He also complained of the inability to use the dentures for the past 6‒8 months due to dryness and a burning sensation of the mouth. He was a known diabetic under medication for the past 24 years. On intraoral examination, he was found to be completely edentulous. The mucosa appeared pink to reddish in many regions and got stuck to the diagnostic instruments due to lack of saliva. Therefore after examination and evaluation of the oral conditions, complete dentures with a palatal reservoir were planned.
The complete dentures were constructed until the trial stage in a conventional manner. Cobalt-chromium (Wirobond, Bego Medical GmbH, Germany) inlet tube of about 10 mm in length and 2 mm in diameter was placed underneath the maxillary first molar acrylic teeth region, inclined palatally, passing from the buccal to the palatal surface.
A chrome-cobalt complete palatal plate was fabricated, measuring about 0.4 mm in thickness in center and 1 mm at the site joining the acrylic region. It covered the center of the palate and terminated 5 mm anterior to the posterior extension ().
The denture was processed and finished with the patency of inlet tube maintained, and the occlusal errors were corrected ().
An undercut of 10° was created 2 mm above the junction of the metal palate and acrylic resin, which served as external finish line ().
Soft tissue reliner (GC Soft Liner, GC Corporation, Japan) was placed on the polished palatal surface and the patient was asked to wear it for 24 hours to functionally contour the soft tissue liner ().
The soft tissue liner extending into the created undercut was removed and a plaster index (first index) (Kaldent, Kalabhai, Mumbai) was made over the contoured soft liner and thin strip of modeling wax (The Hindustan Dental Products, Hyderabad) was adapted over the inner surface of the index (first pattern) extending up to the external finish line.
An oval-shaped cut of about 1.5×1 cm in dimension was made in the middle one-third of the first pattern. Elevations were made with wax, along the sides of the cut, measuring 0.5×0.25 cm to serve as orientation ridges. The first plaster index was scraped, corresponding to the center of the cut, to a depth and width of 1 mm, extending for about 8 mm in length ().
The pattern, along with the index, was duplicated with alginate (Algitex, DPI, Mumbai) and the second plaster index (Kaldent, Kalabhai, Mumbai) was made ().
The second wax pattern was made on the second plaster index, covering the center portion of index extending onto the elevations. The wax patterns were processed with heat-cured acrylic resin (Heat Cure, DPI, Mumbai) ().
An adequate piece of rubber dam (Dental Dam, Coltene Whaledent, Germany) was taken to hold the acrylic plates in position, which was then attached to the plates using self-cured acrylic resin (RR Cold Cure, DPI, Mumbai) ().
The entire setup was then placed in position, corresponding to the undercut region in the denture and sealed securely with self-cured acrylic resin (RR Cold Cure, DPI, Mumbai). The excess material was trimmed and the denture was finished (). The undercut created prevented the slip of the secured acrylic plates and helped in proper positioning in the denture.
The second acrylic plate was slightly pushed up and the holes were made on the sides in the rubber dam with a straight probe. It permitted the flow of artificial saliva into the mouth only when the second acrylic plate was in raised position.
The salivary reservoir was filled with artificial saliva (Wet Mouth, ICPA Health products Ltd, Mumbai) by injecting through the inlet tube () and was closed using a customized rubber stopper.
The denture was then delivered to the patient and the stability of the denture was checked. The patient was trained to push up the inner acrylic plate with his tongue ( and ) with the aid of the horizontal elevation in the second acrylic plate.
The patient was periodically reviewed and the number of holes was increased until adequate flow was achieved.
Proper instructions were provided for the patients regarding the denture care, as well as how to load, use and maintain the denture reservoir.
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pmc-6231260-1
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A 75-year-old woman (height 132 cm, weight 34 kg) consulted a medical doctor with loss of appetite lasting for 1 week. She had taken aspirin, celecoxib, and amlodipine because of angina and hypertension. Laboratory examinations showed that her Hb decreased modestly to 10.7 g/dl. Two weeks later, she was admitted to our hospital because her anorexia had worsened day by day. On admission day 1, she was alert and fully oriented. Her blood pressure and pulse rate were stable. Laboratory examinations showed that the levels of Hb and hematocrit decreased remarkably to 4.8 g/dl and 15%, respectively. The values for white blood count and C-reactive protein (CRP) increased slightly to 9900 /mm3 and 4.64 mg/dl, respectively. Additionally, her albumin level decreased to 2.5 g/dl and the creatine level increased slightly to 1.14 mg/dl (estimated glomerular filtration rate was 41.7 ml/min). Chest and abdominal computed tomography (CT) failed to detect abnormal lesions. On admission day 2, she vomited large amounts of bright red blood. Her Hb level further decreased to 2.9 g/dl. She underwent an urgent transfusion of 560 ml of red blood cells. Endoscopic examination detected active bleeding from a gastric ulcer, and endoscopic clipping was performed against the bleeding lesion.
The next day, her Hb improved to 8.9 g/dl. However, she did not respond to verbal or pain stimuli despite her eyes having opened. She showed normal light reflexes without anisocoria. On brain MRI (fluid-attenuated inversion recovery, FLAIR), high signal intensities were seen in the bilateral cerebellar hemispheres, bilateral watershed regions, right thalamus, and white and gray matter of the bilateral occipital and occipitoparietal lobes. DWI also showed high signal intensities in these lesions, while ADC maps show low signal intensities in the cortical and subcortical regions with small high signal intensities in the surrounding area. These image patterns indicated that the lesions were damaged by extensive cytotoxic edema with restricted vasogenic edema (Fig. ). Magnetic resonance angiography (MRA) showed no stenosis or occlusion of brain arteries. MR venography and 3-dimensional CT angiography was negative for sinus thrombosis, although the left transverse sinus was hypoplastic.
During this process, the maximum systolic blood pressure was 130 mmHg. Laboratory examinations showed no abnormality in liver and coagulatory functions. The level of serum creatinine was stable. Autoantibodies, such as anti-nuclear antibody, anti-thyroid antibody, and anti-neutrophil cytoplasmic antibody, were negative. There was no mutation at position 3243 of the mitochondrial DNA. The cerebrospinal fluid was clear, colorless and acellular with a total protein level of 41 mg/dl and a glucose level of 79 mg/dl. Transthoracic echocardiography showed that myocardial wall motion was normal without foramen ovale or left ventricular thrombus. Holter electrocardiogram showed no atrial fibrillation. From these examination results, the clinical course, and characteristic MRI findings, we considered the possibility of PRES and performed conservative treatment by monitoring the fluctuations of blood pressure and vital signs.
On admission day 7, her responsiveness to external stimulation improved. However, her visual acuity had declined to 20/100 in the right eye and 20/200 in the left eye, and visual field test showed defects of the left lower quadrants in both eyes. Her optic disc and retina were normal. Two months later, her Mini-Mental State Examination score improved to 16 from 8 on admission day 14. However, the disturbances of visual acuity and fields remained unrecovered. When compared with MRI findings, high signal intensities on DWI images were diminished on admission day 7 (Fig. ). In addition, high signal intensities on FLAIR images were diminished until 4 months after onset, and these lesions alternatively involved low signal intensities, indicating cystic change (Fig. ). There were no findings showing cardiogenic embolism and cerebral venous thrombus. The cystic lesion in posterior lobe seemed to represent ischemic change, because PRES is reported to cause ischemic change as a complication [].
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pmc-6231376-1
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A 25-year-old, right-hand-dominant woman presented to clinic nine days after she fell from a bunk bed. The patient was otherwise healthy, but had a history of intravenous drug abuse and incarceration. X-rays of the left wrist were taken through a splint applied the day before at another facility (). Since this fracture was highly comminuted with small, intra-articular fragments, we elected to restore overall radiographic parameters and relative stability using ligamentotaxis with a 2.4/2.7 mm Synthes dorsal bridge plate. Additional, percutaneously placed K wires offered additional stabilization of the radial styloid and lunate facet (). To allow staged hardware removal without multiple trips to the operating room, K wire ends were left outside the skin. The bridge plate was placed with two incisions—one over the index metacarpal and one over the radial shaft. The third dorsal extensor compartment at the level of the wrist was not opened, in contrast to descriptions of others' technique []. However, the plate was visualized deep to extensor tendons in the proximal, radial shaft incision. Full passive finger motion was confirmed after plate placement indicating that the wrist had not been overdistracted. Postoperative X-rays showed improved radial inclination and articular congruity, but residual slight dorsal tilt ().
The patient returned regularly for her initial follow-up visits; the two K wires were removed in clinic 4 weeks after surgery. At 4 weeks postoperatively, she was able to extend her thumb at the interphalangeal joint. Plate removal was discussed with the patient, but unfortunately, she was lost to follow-up and did not return for the next twelve and a half months.
When she returned to clinic more than a year after surgery, she felt a clicking sensation with wrist motion. She estimated that this began three months ago. She was unable to extend her thumb for the past month. She denied any new trauma to the wrist or hand. The plate edges were prominent on physical exam, particularly with wrist flexion. She was unable to extend the distal phalanx of her thumb. X-rays showed that the dorsal bridge plate had broken at the level of the radiocarpal joint, through an empty screw hole (). We recommended operative removal of hardware and EPL reconstruction. She did not have a palmaris longus (PL) on physical exam.
In the operating room, we exposed the dorsal bridge plate through the two incisions used for plate placement. We made a third incision over the EPL at the level of the distal radius. We visualized the bridge plate deep to the extensor tendons in all incisions. Metallosis, severe attenuation, fraying, and a near-complete rupture of the EPL tendon was found at the same level the plate was broken (). We excised the damaged portion of the EPL tendon (). We saw extensive metallosis and damaged-appearing extensor indices (EI) and distal extensor carpi radialis longus (ECRL) tendons over the index metacarpal (). We transferred ECRL to the EPL in an end-to-end fashion after resecting the damaged, distal portion of the ECRL tendon ().
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pmc-6231379-1
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A 27-year-old Emirati male presented to Cleveland Clinic Abu Dhabi (CCAD) emergency department (ED) for the first time in Sept 2015 complaining of severe abdominal pain. The pain has been episodic for the last 4 years and had significantly affected his work and family life. He was seen and admitted to multiple hospitals across Abu Dhabi, including our own, attended different specialists, and underwent a wide range of investigations including blood tests (CBC and differential count, liver and renal profiles and CRP), gastroscopies, colonoscopies, and CT scans and a laparoscopy. The results of all his clinical assessments and investigations did not show any sign.
On one of his acute admissions to CCAD, the immunologist was asked to review the patient. Detailed examination of the patient's medical history starting from the onset of symptoms reveled that he used to get 2 swelling episodes every week affecting his face, hands, feet or scrotum and severe abdominal pain twice a week. These swelling episodes and abdominal pain appeared suddenly without any obvious triggering factor, developed over 36 hours and resolved spontaneously in 5-7 days without any medication including analgesics. He reported no laryngeal swellings or respiratory compromise. He denied any fevers, night sweats, weight loss, change in bowel habits or blood in his stools. His swelling episodes were occasionally associated with non-pruritic red skin rash that was mistaken for chronic urticaria for which he was treated with Omalizumab (300mg every 4 weeks) for 9 months without any benefit. Moreover, his response to different types of analgesia, high dose antihistamines, antibiotics and corticosteroids was unsatisfactory. He is a thalassemia carrier; otherwise he is fit and healthy and has no past medical history of note. He has no family history of immunodeficiency, inflammatory bowel disease, autoimmunity or FMF. On examination, he was in pain and his abdomen was soft, tender with guarding and decreased bowel sounds. There was no rebound, rigidity, distension or ascites. He had no peripheral swellings.
During his acute admission to CCAD, a review of his blood tests was performed that showed reduced C4 and absent C1 inhibitor function (Table). These tests were performed a month prior to his admission but were not followed up. His abdominal CT scan showed diffuse swelling and long segment of enhancing mucosal thickening involving the proximal jejunum and gastric mucosa with minimal free abdominal fluid (). In addition, he had a colonoscopy which showed severe mucosal edema in the transverse colon with occlusion of the lumen (). A provisional diagnosis of HAE was made based on his limited complement studies. As he had severe abdominal pain for 24 hours prior to his hospital admission, C1 inhibitor concentrate (2000 units IV over 10 minutes) was administered and within 2 hours his pain had almost resolved.
After his recovery, he underwent detailed immunological investigations that revealed markedly reduced C4 level and absent C1 inhibitor function (performed manually, read on Shimadzu UV-1700 equipment) with normal C3 and C1q levels and raised C1 inhibitor serum levels (). His ENA, total immunoglobulin, CBC and differential count, serum protein electrophoresis, liver function tests, hepatitis serology, lipase, amylase, tissue transglutaminase, stools tests and urinalysis did not show any significant abnormality.
He was diagnosed with type 2 HAE based on his abnormal complement studies () and was commenced on tranexamic acid for 3 months. He did not want to start with attenuated androgens because he was concerned about their adverse effects. However, he continued to get abdominal pain even when the dose of tranexamic acid was increased to 3 grams daily. He was then switched to danazol 100 mg twice daily with complete resolution of his abdominal symptoms.
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pmc-6231380-1
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A 10-year-old Japanese girl was referred to our hospital with a six-year history of bilateral amblyopia. The patient had undergone complete ophthalmological examinations and evaluations by many ophthalmologists at several medical institutions because of her visual disorder since she was a preschooler. However, the cause of visual disturbance was not determined, and the patient was tentatively diagnosed with amblyopia or visual disturbances of psychogenic origin. She was examined regularly at 2 to 3 months' intervals since the first evaluation. The patient had never been diagnosed with iris-related diseases such as iris nodules.
At the first examination at our hospital, her best-corrected visual acuity (BCVA) was 20/40 in the right eye and 20/40 in the left eye. The pupils were of equal size and there was no afferent pupillary defect. Slit-lamp examination revealed numerous small iris nodules bilaterally (). Extraocular movements were full without nystagmus. The intraocular pressure was 12 mmHg in the right eye and 11 mmHg in the left eye. The ophthalmoscopic findings of the retina were within the normal limits, and optical coherence tomography showed that the macula appeared normal in both eyes (). Her family had no similar iris anomaly. The visual field determined by Humphrey program 30-2 and color vision test were within normal limits in both eyes. The patient was prescribed spectacle correction of +0.25 -0.25 x130 in the right eye and +0.25 -0.25 x160 in the left eye to reduce the risk of amblyopia. After 3 years of treatment, the BCVA had improved to 20/25 in the right eye and 20/20 in the left eye. During the treatment of amblyopia, neuronal complications such as mental disease, neuropathy, and neurofibromatosis were not observed.
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pmc-6231385-1
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A 63-year-old female came for consultation presenting with an erythematous violaceous plaque on the right index finger that had started 7 days previously. On examination a central necrotic area () was observed. Fracture and acute vascular occlusion were excluded. Laboratory tests were unremarkable. A consultation with the dermatology department was then requested.
The patient raised goats on her farm. The animals had some udder lesions, so she needed to daily bottle-feed milk to the kids. She did not wear gloves while performing this task. During the evaluation of the patient, it was observed that the patient's daughter presented with a similar skin lesion on the left thumb, and she reported that she also helped to feed the little goats. Dermatology exam showed an indurated nodule with central umbilication covered by crust and surrounded by a reddish halo (). Dermoscopy of the finger nodule showed an erythematous area, central ulceration, yellow crust, brown dots, a white structureless area partially surrounding the lesion, and dotted vessels (). The diagnosis of orf was suspected.
Upon domiciliary visit to the patient's farm, goats with udder lesions () were found. The electron microscope has been used for the diagnosis of orf. In this case, it showed ovoid particles with a crisscross appearance due to viral particles (); polymerase chain reaction was positive for the specific virus (ORFV) (). The patient was advised to feed the kids using gloves () and to commence local wound care for the lesions, because the disease was showing spontaneous regression.
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pmc-6231389-1
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We present a 66-year-old Caucasian male with a history of hypertension and chronic type A aortic dissection who was found to have an enlarging aortic root measuring 5.2 cm in diameter on an echocardiography done as part of surveillance of aortic dissection repair done 9 years ago using a tube graft with resuspension of the aortic valve (). Echocardiography was followed by CT aortography that showed the aortic root measuring 6.0 cm × 5.4 cm in diameter. The patient denied any symptoms and an elective surgical reconstruction was planned. Preoperative coronary angiogram showed normal coronary arteries.
The patient subsequently underwent modified Bentall procedure. This involved graft replacement of the aortic root, replacement of the aortic valve using a 27 mm bioprosthesis (St. Jude Medical Trifecta aortic bioprosthesis; St. Jude Medical Inc., St. Paul, MN, USA), and reimplantation of coronary arteries into the graft using the button technique. Soon after sternotomy closure was done, he was found in cardiac arrest with ventricular fibrillation intractable to pharmacologic resuscitation and defibrillation. Mediastinal reexploration was immediately performed revealing a fibrillating heart with no evidence of obvious bleeding or injury. He was internally defibrillated, and normal sinus rhythm was achieved. The patient was systemically heparinized and stabilized with vasopressors and veno-arterial extra-corporeal membrane oxygenation (VA-ECMO). Urgent transesophageal echocardiography (TEE) was done that showed a new, severe dilatation of the right ventricle along with reduced ejection fraction but a normal left ventricle (). The prosthetic aortic valve was intact.
A concern for iatrogenic injury to the coronary vessels prompted an emergent coronary angiography which revealed dissection of the right coronary artery (RCA) extending from the ostium down to its distal segment, sparing the bifurcation (; see in Supplementary Materials). The left coronary artery was normal (see in Supplementary Materials). A 6-French JR4 guiding catheter was placed in the ostium of the right coronary artery, and the dissection plane was traversed antegradely with a workhorse coronary guidewire (Prowater). Intravascular ultrasound (IVUS) using the Volcano Eagle Eye IVUS catheter was performed to ensure location of the wire in the true lumen distally, evaluate the nature and extent of coronary dissection, and select appropriate size of coronary artery stents. IVUS confirmed a spiral coronary dissection spanning between the distal RCA and ostium and sparing the right posterolateral and right posterior descending arteries (). A 3.5 × 32 mm drug eluting stent (SYNERGY, Boston Scientific) was placed in the distal segment followed by four 4.0 mm drug eluting stents (SYNERGY, Boston Scientific) in overlapping fashion under IVUS guidance that restored TIMI-3 blood flow in the posterior descending and posterolateral branches of the right coronary artery (Figures , , and ; see Videos – in Supplementary Materials).
His postoperative course was also complicated by a right-sided pneumothorax which required chest tube drainage and nonoliguric renal failure that were managed conservatively. The patient's clinical status showed marked improvement, and by the fourth day postsurgery, he was extubated and weaned off from hemodynamic support. A transthoracic echocardiography one week later showed improved right ventricular size and function (). The patient was subsequently transferred to rehab hospital where he had an uneventful six weeks of cardiac rehabilitation. He was subsequently discharged home in a stable condition. He has been doing well on follow-up.
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pmc-6231448-1
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In late 2016, a 61 year old non-smoking female presented with exertional shortness of breath, mild pedal edema, distended neck veins, and a recent weight gain of 15 lbs over the prior 2 weeks. It was initially suspected that the patient was experiencing pulmonary embolism based on her clinical presentation and elevated D-dimer, but further testing revealed that she was experiencing cardiac tamponade with mild pulmonary hypertension and heart failure. Pericardiocentesis was performed without definitive diagnosis. In February 2017, the patient exhibited worsening respiratory symptoms without fever, hemoptysis, sputum production, B symptoms, or extremity edema. Baseline chest PET-CT images were reviewed by radiologists at both UCLA Oncology and Texas Tech University Health Sciences Center, demonstrating a large middle mediastinal mass encasing the main pulmonary artery, with pericardial and left pleural effusion (Figure & Figure ). Scattered pulmonary nodules and hypodense lesions were identified in the right lobe of the liver, consistent with a diagnosis of metastatic disease (Figure ). Biopsy of the mediastinal mass revealed a high grade undifferentiated malignant neoplasm composed of highly proliferative (ki67 staining ~50%) pleomorphic anaplastic epithelioid malignant cells with large areas of necrosis and fibrosis. Immunohistochemistry revealed strong antigenicity for CD31 and CD34, and weak antigenicity for D2-40 and Factor VIII indicating a diagnosis of angiosarcoma that was corroborated at both UC San Diego Health and MD Anderson.
Conventional treatment options were recommended, however the patient declined these based on low reported survival rates, and instead, requested the non-selective beta blocker propranolol as a single agent therapy. In May 2017, 40 mg/kg propranolol was administered daily and PET-CT scans were performed at regular intervals to assess the response of the tumor to propranolol. Assessment of tumor response was based on 18F-fluorodeoxyglucose (FDG) tracer uptake and measurements/assessments of the primary tumor and distant metastases. After 12 months of propranolol as a single agent therapy, significant debulking and decreased size of the residual mediastinal mass was observed on PET-CT scans, with resolution of pericardial effusion (Figure & Figure ). Pulmonary nodules were stable to regressed, and the nodules in the right lobe of the liver had completely resolved (Figure ). There was no evidence of residual hyper-metabolic activity based on FDG measurements in the primary lesion or in metastatic sites in the chest, abdomen, or pelvis on PET-CT.
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pmc-6232195-1
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A 53-year-old male was referred to the Oral Medicine Department by Dermatology in July 2008, with an 8-month history of blistering and soreness of the oral mucosa. On examination, there were small erosions and ulcers present on the soft palate and bilaterally on the buccal mucosae. The patient had been under the care of Dermatology since 2003 for an itchy rash on the legs, scalp and chest. A biopsy from a crusted lesion on the scalp (Fig. ) in 2003 revealed acantholysis of the keratinocytes in the upper part of the prickle cell layer (Fig. ), and direct immunofluorescence studies showed IgG positivity around the upper epidermal cells. These features were consistent with a diagnosis of PF. He was started on Mycophenolate Mofetil (MMF) 500 mg twice a day and Prednisolone 10 mg once a day by Dermatology in 2006, which had resulted in excellent control of his cutaneous lesions. Prior to this, Azathioprine alone had been introduced on two occasions by Dermatology, however the patient failed to tolerate it due to nausea and vomiting. Oral involvement only began in January 2008 which required hospital admission for a short period.
His only other relevant medical history was hypertension, for which he took Nifedipine. At initial presentation, he was also taking Ranitidine and Alendronic Acid for protection against osteoporosis with prolonged systemic corticosteroid use. He was a non-smoker and had low alcohol intake.
At initial appointment, MMF dose was increased to 1 g in the morning and 500 mg in the evening for 2 weeks, and thereafter 1 g twice a day. Full blood count, urea and electrolytes and liver function tests were normal, and regular blood monitoring was carried out appropriately. In light of good response to systemic therapy and as only very small erosions/ulcers were present at this point, oral biopsy was not arranged. He was seen regularly on the joint Oral Medicine/Dermatology clinic and complete resolution of the oral lesions had occurred 5 months later. MMF 1 g twice a day was continued, however the Prednisolone dose was gradually reduced before being stopped. After ceasing Prednisolone, the patient developed an itchy dry patch of skin on the forefinger of his right hand. This was assessed by a consultant Dermatologist who clinically diagnosed Lichen Simplex Chronicus and advised him to use Elocon (Mometasone) cream.
In 2010, the patient reported a flare in cutaneous symptoms, including scalp and genital discomfort. On examination, there were crusted lesions on the scalp. Wickham striae and erosions were seen on the glans penis (Fig. ), therefore genital erosive lichen planus was clinically diagnosed by a consultant Dermatologist. There were also skin lesions on the arms and legs clinically resembling lichen planus. Oral lesions, more significant than seen previously, were also noted at this appointment. These consisted of an ulcer on the soft palate and an erosion in the left buccal mucosa (Fig. ). MMF dose was increased and incisional biopsies of the buccal mucosa for histopathology and direct immunofluorescence were organised. This revealed intra-epithelial separation between prickle and basal cell layers (Fig. ), and positive staining for IgG in the lower third of the epithelium. The features were consistent with a diagnosis of PV.
The patient proceeded to have well controlled oral PV, however problematic PF of the scalp which was managed with Xamiol gel (calcipotriol and betamethasone diproprionate) and Etrivex shampoo (clobetasol proprionate). The dose of MMF has varied depending on symptoms and currently the skin, oral mucosa and genitals are stable on MMF 1 g in the morning and 500 mg in the evening.
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pmc-6232199-1
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A 68-year-old man visited the emergency room of our hospital with the complaint of sudden epistaxis. It was his first episode of epistaxis. A small reddish tumor was observed on the nasal septum using a nasal video scope. A computed tomography scan showed a small mass (about 5 mm) in the right nasal cavity that had arisen from the septal wall (Fig. ). Although nasal packing was performed, oozing from the tumor continued. GPC was suspected based on findings of a histologic examination of the biopsy specimen, and the differential diagnosis included SFT. After 1 month, the patient was scheduled for an endonasal surgery. Pre-operative tumor embolization was not performed in light of the small size of the tumor. A reddish mass with a smooth surface extended from the high septum to the skull base. Tumor resection was designed with 5 mm margins, and resection was achieved using a Colorado Needle Scalpel (Fig. ). Complete tumor dissection was achieved with ease. The blood loss was 10 mL, and operation time was 30 min. It was a subepithelial, well-delineated tumor, and the epithelium was partially eroded (Fig. a). The size of the tumor was 12 × 5 mm, and it histologically showed a uniform proliferation of oval-to-short spindle-shaped cells with slightly branching vascular structures (Fig. b). Stromal bleeding was also noted; however, no necrosis was observed. The tumor cells showed minimal cytologic atypia and there were an average of 3 mitoses in 10 high power fields (Fig. c). Tumor cells were diffusely and strongly positive for β-catenin nuclear staining (Fig. d), but negative for STAT6 (Fig. e). The MIB-1 labeling index was < 5% (Fig. f) and tumor cells were negative for CD34 and bcl-2. The surgical margin was negative for tumor cells. Genetic testing using DNA extracted from formalin-fixed paraffin embedded tissue revealed CTNNB1 mutation (p.S33C) (Fig. g). Based on these findings, we diagnosed the patient with GPC.
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pmc-6232249-1
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A 55-years-old male presented with progressive deterioration of visual acuity and dizziness for 2 months. A preoperative computed tomographic (CT) scan revealed a large-mass lesion of the sellar region with extreme suprasellar extension (Figure ). Magnetic resonance imaging (MRI) demonstrated a large lesion located in the sellar region with heterogeneous enhancement and invasion to both cavernous sinuses (Figures –). The size of the tumor upon MRI was ~3.0 × 2.5 × 4.0 cm. Endocrinologic tests showed that the levels of adrenocorticotropic hormone (ACTH) were significantly elevated to 411.3 pg/ml (range, 7.2–63.3) at 8 a.m. and 352.1 pg/ml (4–32) at 4 p.m. The cortisol concentrations were 1,123.9 ng/ml (171–536) at 8 a.m. and 912.3 ng/ml (64–327) at 4 p.m. Other hormones, such as prolactin, growth hormone, free thyroxine (T3 and T4), and thyroid-stimulating hormone (TSH) were normal. The patient underwent an endonasal transsphenoidal surgery, and subtotal resection was obtained after the operation (Figures –). The postoperative ACTH levels dropped to 96.8 pg/ml at 8 a.m. and 78.3 pg/ml at 4 p.m., and the level of cortisol was reduced to 321.1 ng/ml at 8 a.m. and 165.2 ng/ml at 4 p.m. The residual tumor at the left cavernous sinus was subsequently treated with gamma knife surgery.
The ACTH and cortisol values remained stable during the 4 years of follow-up. However, 5 years after the first surgery, the patient was readmitted with a history of 20 days of left visual disturbance and 10 days of left eyelid ptosis. A MRI scan revealed a recurrent tumor in the sellar region and invasion of the left cavernous sinus. Computed tomographic angiography (CTA) was adopted to rule out an aneurysm of the left posterior communicating artery, and no aneurysm was found on CTA (Figure ). Hormonal evaluation showed slightly decreased levels of FT3 and FT4 (3.12 pmol/L [3.28–6.47] and 5.22 pmol/L [7.9–18.4], respectively). The ACTH levels were 41.3 pg/ml (7.0–61.1) at 8 a.m. and 38.6 pg/ml (3.5–30.55) at 4 p.m., and the levels of cortisol were 4.9 ug/dl (7–27) at 8 a.m. and 17.6 ug/dl (3.5–13.5) at 4 p.m. A second surgery was performed. The postoperative FT3, FT4, TSH, and cortisol values were significantly decreased compared with respective preoperative hormone levels. The patient was discharged under hormonal replacement therapy with euthyrox (25 ug/d) and cortisone acetate, and adjustment dosages were administrated based on subsequent endocrinologic tests. Postoperative histopathologic examination showed the presence of a PC. PET-CT was used for further evaluation and a residual intracranial tumor was observed in the left cavernous sinus (Figure ). Multiple metastatic lesions were also found in the lung (Figures ), and biopsy of these lesions revealed a metastatic neuroendocrine tumor.
Initial postoperative histopathologic examination revealed a pituitary adenoma, and microscopic evaluation showed that the tumor consisted of circular cells of uniform morphology (Figure ). Immunohistochemical staining was positive for the expression of ACTH and P53 (Figures ), and Ki-67 expression was essentially negative (Figure ). A second postoperative histopathologic examination showed the presence of a PC. Hematoxylin and eosin staining also revealed the presence of excessive pleomorphic cells and frequent mitoses (Figure ). Immunohistochemical staining was positive for the expression of ACTH (Figure ), with strong positive staining for P53 and Ki-67 (Figures ); in fact, Ki-67 expression was up to 80%. In addition, we conducted a systematic review of the literature by searching Pubmed and Web of Science databases, and the Cosmic databank to ascertain all published studies on alterations in gene expression with respect to pituitary adenomas and pituitary carcinomas. Our literature search identified 44 mutant genes in pituitary adenomas. Their protein-protein interaction (PPI) network is shown in Figure . Using these 44 genes, we found enrichment of several GO groups using the Kyoto Encyclopedia of Genes and Genomes (KEGG) database (Figure ). Among these GO groups were signaling pathways involving Ras, mTOR, MAPK, FoxO, ErbB, focal adhesion, and PI3K-Akt. However, we only uncovered limited novel gene expression changes and related clinical features from an isolated case report regarding PC (–) (see Table ). In light of the exceeding rareness of PCs, molecular profiles of genes in the current rare case were derived by the Beijing Pangenomics Technology Co., Ltd. Only 3 gene mutations were found among 509 genes examined in the ACTH-producing PC in our study, including mutations in ATRX (alpha thalassemia/mental retardation syndrome X-linked) and P53. In addition, we uniquely identified the novel mutation in PTEN (Phosphatase and tension homolog deleted on chromosome 10) by comparison analysis with published data on PCs. The patient's residual tumor was well-controlled by temozolomide and general radiotherapy for 3 months, and there have been no new lesions or metastases.
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