Internal medicine
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Case Reports
"An Unbalanced Diet Limited to the Consumption of Boiled Vegetables Led to the Onset of Scurvy."
Scurvy is a rare disease caused by a vitamin C deficiency. Vitamin C is a water-soluble vitamin found in vegetables and fruits, but it is lost after boiling. A 59-year-old man presented with gingival pain after having a tooth extracted five years previously. ⋯ His serum vitamin C level was below the detectable limit. His symptoms immediately improved with vitamin C administration. This case emphasized that consuming only boiled vegetables can lead to the onset of scurvy.
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Objective Dementia with Lewy bodies (DLB) is the second-most common form of neurodegenerative dementia after Alzheimer's disease (AD). Falls are a vital prognostic factor in patients with dementia and are a characteristic feature of DLB. This study investigated the screening potential of the fall risk evaluation for DLB and compared it with that of AD to facilitate an accurate diagnosis. ⋯ Conclusions The FRI-21 is a useful tool for screening for DLB and differentiating it from AD. This questionnaire can be used at a relatively early stage of the disease in young patients with mild cognitive dysfunction and no history of falling. These preliminary results need to be validated in an interventional study to evaluate the effectiveness of rehabilitative measures and daily environmental changes carried out to prevent falls using this tool.
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Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene that results in deficiency of the enzyme GLA and leads to the accumulation of globotriaosylceramide (GL-3) in cells. The accumulation of GL-3 may lead to life-threatening complications. ⋯ However, the long-term clinical course of the disease remains unknown. We herein report a patient with a 30-year natural history of non-classic Fabry disease with an R112H mutation.
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We herein report a case of an extremely rare spinal cord endodermal sinus tumor (EST). A nine-year-old boy presented with progressive paraparesis, hypesthesia, and urinary retention. Gadolinium-enhanced magnetic resonance imaging (MRI) revealed multiple intradural enhancing lesions at T1 to T9 without evidence of intracranial tumors. ⋯ He received chemotherapy, but 12 months after surgery, rapid tumor progression and intracranial metastases with obstructive hydrocephalus were detected. Following external ventricular drainage, the patient's condition rapidly deteriorated, and he ultimately died. EST should be considered when confronting a homogenously enhancing intradural tumor of the spine on post-contrast MRI.