Internal medicine
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Review Case Reports
Mixed Germ Cell Tumor with a Yolk Sac Tumor Component in the Medulla Oblongata of a 50-year-old Patient: A Case Report and Literature Review.
Yolk sac tumor (YST) is a rare primary brain tumor that occurs almost exclusively in patients under 30 years old. Intracranial germ cell tumors are most frequently located in the pineal and suprasellar region. Medulla oblongata YSTs are particularly rare. ⋯ Furthermore, they are known to have a very poor prognosis. We herein report a case of YST of the medulla oblongata in a 50-year-old woman. She was followed up for 18 months without any tumor recurrence.
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Review Case Reports
Relapsing Anti-MOG Antibody-associated Disease Following COVID-19 Vaccination: A Rare Case Report and Review of the Literature.
Anti-myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is an autoimmune demyelinating disorder that mainly occurs post-infection or post-vaccination. MOGAD after inoculation with coronavirus disease 2019 (COVID-19) vaccines is rare, and we herein report a rare case of a patient with MOGAD after vaccination using the Pfizer-BioNTech COVID-19 vaccine (BNT162b2, Pfizer Japan, Tokyo). Our report highlights the fact that MOGAD following inoculation with COVID-19 vaccine may show clinical relapse during reduction of the oral steroid dose, and continuous treatments with immunological agents is needed to prevent disease recurrence.
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Antithrombin resistance (ATR) is a newly identified strong genetic predisposition to venous thromboembolism (VTE) caused by genetic variations in prothrombin with substitutions of Arg at position 596 with either Leu, Gln, or Trp. In the present report, we identified a missense variant p. Arg596Gln in 3 patients from 2 families with unprovoked VTE who each experienced their first VTE event at 19, 67, and 19 years old. The three patients did not show any positive markers for thrombophilia on routine testing, suggesting that patients with unprovoked VTE who have negative findings on thrombophilia tests may carry a prothrombin variant with ATR.
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We herein report a 45-year-old man with dentatorubropallidoluysian atrophy (DRPLA) who presented with mild dementia, ataxia, and involuntary movement and developed constipation, dysuria, and orthostatic hypotension. Thermography revealed an abnormal thermal response of the skin to cold stimulation. ⋯ The thermography results suggested the possibility of autonomic dysfunction. Although little is known regarding autonomic dysfunction in DRPLA, this report demonstrates the importance of autonomic dysfunction in DRPLA.