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Search Results for Genetic disease
Abstract Number: 697
FATAL PRESENTATION OF ADULT-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY: AN UNRECOGNIZED CAUSE OF ENCEPHALOPATHY
Hospital Medicine 2019, March 24-27, National Harbor, Md.
Case Presentation: A 21-year-old previously healthy man presented to an outside hospital with one day of confusion without any other localizing symptoms. He reported taking a supplement called Synergy, an androgen receptor modulator, for six months, and doxylamine, a first generation anti-histamine, for one-two days. He denied alcohol consumption or other substances. Initial vital signs [...]
Abstract Number: 781
UNRAVELING CADASIL: FROM CLINICAL PRESENTATION TO GENETIC CONFIRMATION
SHM Converge 2024
Case Presentation: A 45-year-old woman initially presented with sudden dizziness upon sitting up, followed by persistent holocranial pressure headaches, blurry vision, and visual distortions resembling a kaleidoscope effect. The patient has primarily received outpatient care for persistent headaches and has undergone frequent monitoring due to worsening cognitive decline for which she was referred to a [...]
Abstract Number: 0940
A YOUNG PATIENT WITH PANCYTOPENIA AND CIRRHOSIS: UNRAVELING A TELOMEROPATHY
SHM Converge 2025
Case Presentation: A 24-year-old male with a history of pancytopenia presented to the emergency department with generalized abdominal pain. One year prior, he started having intermittent mild abdominal pain which was attributed to irritable bowel disease. Three months prior, he developed a pruritic red rash on his arms and legs and intermittent bleeding from his [...]
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  • This Month

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  • NALTREXONE – INDUCED KRATOM WITHDRAWAL: A CALL FOR AWARENESS

  • A CASE OF AMANTADINE INDUCED LIVEDO RETICULARIS IN A PATIENT WITH MULTIPLE SCLEROSIS

  • LOSARTAN-INDUCED ELECTROLYTE DEPLETION

  • Cannabis Withdrawal Induced Hypertensive Urgency

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  • ADDERALL INDUCED ISCHEMIC COLITIS

  • A CASE OF SKIN NECROSIS CAUSED BY INTRAVENOUS XYLAZINE ABUSE

  • Bc Powder Causing Intracerebral Bleed: Pitfalls of Overlooking Dosage of Seemingly Innocuous Otc Formulations

  • RECOGNIZING S1Q3T3 FOR WHAT IT IS: A NONSPECIFIC PATTERN OF RIGHT HEART STRAIN

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