Internal medicine
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Case Reports
Spinal Muscular Atrophy Type 3 Showing a Specific Pattern of Selective Vulnerability on Muscle Ultrasound.
A 23-year-old woman was admitted for slowly progressive proximal limb muscle weakness from childhood with elevated muscle enzyme levels. Although muscular diseases were suspected, an electromyogram showed remarkable neurogenic changes, and a muscle echogram indicated selective muscle involvement, including dissociation between the soleus and gastrocnemius, which was consistent with previous reports using magnetic resonance imaging (MRI). ⋯ An early diagnosis is mandatory to maximize the benefit of treatment. A muscle echogram may facilitate an early diagnosis in a non-invasive and time-saving manner compared to MRI.
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Objective Fabry disease (FD) is a hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age and presents with other various neurological symptoms. Since FD is rare, limited information is currently available on the prevalence of neurological symptoms in Japanese patients with FD. Therefore, we examined the characteristics of neurological symptoms and brain magnetic resonance imaging (MRI) findings in adult Japanese patients with FD. ⋯ Conclusion Patients with FD present with various neurological symptoms. Headache, particularly migraine, might be a major neurological symptom in patients with FD. Since migraine, ischemic stroke, and coronary spastic angina might occur together in FD, caution is needed when administering triptan to FD patients with migraine.
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Nasogastric tube syndrome (NGTS) is a rare but life-threatening complication associated with nasogastric tube (NGT) placement. The effect of the NGT size and type on the development of NGTS has not yet been fully elucidated. ⋯ Although the NGT was passed through the same route during reinsertion, the use of a softer and smaller-sized NGT did not cause any NGTS recurrence. To prevent the development of NGTS, using a NGT that is appropriate for the patient's condition is important.
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We herein report the case of 21-year-old female diagnosed with adult-onset Still's disease (AOSD) three years earlier who presented with fever and right upper abdominal pain. She was diagnosed with acute acalculous cholecystitis (AAC) based on hepatic dysfunction, elevated C-reactive protein, and gallbladder wall thickening on abdominal ultrasound. Based on the presence of pancytopenia, hyperferritinemia, and hemophagocytosis by a bone marrow examination, she was diagnosed with macrophage activation syndrome (MAS)/hemophagocytic lymphohistiocytosis (HLH) which was refractory to glucocorticoid pulse therapy. The combination of intravenous cyclosporine A with glucocorticoids was able to successfully control the disease activity of AOSD-related AAC and MAS/HLH.
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Extravascular cardiac resynchronization therapy (CRT) defibrillators (CRT-Ds) are ideal for recurrent blood stream infections. Furthermore, CRT is useful for patients intolerant to right ventricular (RV) pacing. The case was a 65-year-old man with a CRT-D who presented with a blood stream infection. ⋯ After the operation, a subcutaneous implantable cardioverter defibrillator (S-ICD) was placed. However, not all pacing is eligible for S-ICD screening. Combination therapy with an epicardial CRT device and S-ICD might be an alternate option for cardiac surgery cases.