Internal medicine
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Case Reports
Successful Treatment of Warm Autoimmune Hemolytic Anemia with a Positive Donath-Landsteiner Test Using Rituximab.
Paroxysmal cold hemoglobinuria (PCH) is a rare disease in adults, and its concurrent presentation with warm-type autoimmune hemolytic anemia (AIHA) has not yet been reported. We encountered a 19-year-old woman with AIHA and a positive Donath-Landsteiner test result identified by a hemolytic attack during blood transfusion. ⋯ After treatment with prednisolone followed by rituximab, the AIHA improved, and the Donath-Landsteiner antibody test result turned negative. Clinicians should be aware that patients may present with concurrent warm-type AIHA and PCH and consider rituximab for its treatment.
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Case Reports
Small Intestinal Arteriovenous Malformation Treated by Double-balloon Endoscopy: A Case Report.
A 42-year-old man was referred to our hospital because of anemia. The patient underwent gastroscopy and colonoscopy, but no bleeding site was detected. Abdominal contrast-enhanced computed tomography (CT) showed vascular dilatation along the wall of the small intestine. ⋯ The AVM was clipped using DBE. After clipping, abdominal contrast-enhanced CT and small bowel angiography revealed the disappearance of the AVM. DBE may be a viable therapeutic option, helping avoid surgery and its associated risks.
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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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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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We herein report a novel de novo KCNH5 variant in a patient with refractory epileptic encephalopathy. The patient exhibited seizures at 1 year and 7 months old, which gradually worsened, leading to a bedridden status. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and cerebellar hypoplasia. ⋯ Lys214Gln variant in KCNH5 that was predicted to be deleterious. Recent studies have linked KCNH5 to various epileptic encephalopathies, with many patients showing normal MRI findings. The present case expands the clinical spectrum of the disease, as it is characterized by severe neurological prognosis, cerebral atrophy, and cerebellar hypoplasia.