Internal medicine
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Fabry disease is an inherited lysosomal disorder caused by mutations in the alpha-galactosidase A gene. We herein report a Fabry disease patient with enzyme replacement therapy (ERT)-resistant proteinuria who showed improvement in the estimated glomerular filtration rate (eGFR) decline rate after uric acid (UA)-lowering therapy. The patient was diagnosed with Fabry disease at 36 years old. ⋯ During the clinical course, serum UA levels were elevated with increases in renal tubular damage markers. Febuxostat administration immediately improved tubular damage and prevented further eGFR decline. UA-mediated tubulopathy may become an additional therapeutic target for eGFR decline in Fabry disease.
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Objective A high NOBLADS score reflecting the severity of lower gastrointestinal bleeding contributes to the identification of stigmata of recent hemorrhage (SRH) in colonic diverticular bleeding (CDB). The burden of colonoscopy is particularly high in elderly patients; therefore, we investigated the utility of the NOBLADS score for managing CDB by age stratification. The NOBLADS score performance in SRH prediction was estimated by the area under the receiver operating characteristic calculation and a multiple logistic regression model. ⋯ Eighty-one patients (32.4%) scored ≥4 in the elderly group, and 60 of those were SRH-positive (74.1%). All 27 patients (10.8%) who scored ≥4 with extravasation on computed tomography were found to have SRH. Conclusion The NOBLADS score is useful for predicting SRH identification, especially in elderly patients.
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Cat scratch disease (CSD) is a zoonotic infection caused by Bartonella henselae typically resulting in self-limited regional lymphadenopathy. Encephalitis is a complication with a supposedly benign prognosis, but we encountered an exceptional case. A 19-year-old Japanese woman presented with status epilepticus. ⋯ Multimodal treatment ameliorated her encephalitis, but neurological sequelae including spastic paraparesis, persisted. After several months, she developed age-disproportionate parkinsonism inconsistent with a neurodegenerative disease. In conclusion, CSD-associated encephalitis can result in severe neurological sequelae and post-encephalitic parkinsonism.