Internal medicine
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A 26-year-old man presented with a tumor in the left soleus muscle. The tumor was diagnosed as a locally advanced leiomyosarcoma. The patient was treated with irradiation followed by wide resection. ⋯ To explore therapeutic options for the patient, we performed DNA-based CGP with FoundationOne® CDx (F1). F1 identified an out-of-strand rearrangement of the NOS1AP::NTRK1 gene, which has not been previously reported. In contrast, RNA sequencing revealed an in-frame LMNA::NTRK1 gene, which is an oncogenic fusion gene.
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Case Reports
Writer's Cramps as an Initial Symptom of Spinocerebellar Ataxia Type 14: A Case Report.
Spinocerebellar ataxia type 14 (SCA14) is a rare form of autosomal dominant cerebellar ataxia caused by mutations in PRKCG. We herein report a case of SCA14 presenting with writer's cramp that predated the onset of progressive ataxia by four years. ⋯ C142S), leading to an SCA14 diagnosis. Therefore, writer's cramp might be a characteristic extracerebellar sign of SCA14 and can precede the onset of cerebellar ataxia.
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A 57-year-old man presented with subacute-onset paraparesis, bilateral dysesthesia in his lower extremities, and bladder/bowel disturbance six weeks after being infected with severe acute respiratory syndrome coronavirus 2 infection [coronavirus disease 2019 (COVID-19)]. A neurological examination suggested transverse myelitis at the level of the lower thoracic spinal cord. ⋯ Aggressive immunosuppressive therapy, started soon after hospitalization, dramatically improved his symptoms. Early aggressive immunosuppressive therapy should therefore be considered in cases of MRI/CSF-negative myelitis associated with COVID-19.
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Objective To investigate the correlation between pancreatic fat deposition and metabolic syndrome (MetS) parameters, focusing on the locations of fat deposition in the pancreas and sex differences. Methods Degrees of fat deposition in the head, body, and tail of the pancreas were evaluated using computed tomography (CT). We examined the relationships between pancreatic fat deposition and the age, body mass index (BMI), visceral and subcutaneous fat, serum lipid profiles, hepatic steatosis, diabetes mellitus (DM), and hypertension (HTN). ⋯ Conclusion Pancreatic fat deposition, as evaluated by CT, especially in the part of the pancreatic head adjacent to the ampulla of Vater, is a sensitive indicator of MetS. The correlations between pancreatic fat deposition and MetS parameters tended to be stronger in females than in males. These results may help further elucidate the pathophysiology of MetS and provide opportunities for its diagnosis.
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A 73-year-old man with a history of heterotaxy syndrome and intestinal malrotation developed hemorrhagic shock due to bleeding from a duodenal ulcer. Esophagogastroduodenoscopy failed to achieve hemostasis because of restriction of the view by massive hemorrhage. Transcatheter arterial embolization cannot achieve endovascular hemostasis due to the vascular anatomy. ⋯ Intestinal malrotation due to heterotaxy syndrome is a risk factor for gastrointestinal bleeding. Severe gastrointestinal bleeding in patients with intestinal malrotation is difficult to control with endoscopy alone. Therefore, combined therapies with endoscopy, interventional radiology, surgical procedures, and intensive care are vital for achieving a better prognosis.