Background And Aims: Dyskeratosis congenita (DC) and related telomere biology disorders (TBD) are characterized by very short telomeres and multisystem organ involvement including liver disease. Our study aimed to characterize baseline hepatic abnormalities in patients with DC/TBD and determine risk factors associated with liver disease progression.
Approach And Results: A retrospective review was performed on a cohort of 58 patients (39 males) with DC/TBD who were prospectively evaluated at a single institute from 2002 to 2019.
Hemosuccus pancreaticus is a rare cause of gastrointestinal bleeding that usually presents with melena and abdominal pain. It is defined as a hemorrhage from the ampulla of Vater passing through the main pancreatic duct toward the second portion of the duodenum. Imaging is usually required to establish a diagnosis, and angiography continues to be the gold standard for both treatment and diagnosis.
View Article and Find Full Text PDFBackground: Cardiac sarcoidosis (CS) and arrhythmogenic right ventricular cardiomyopathy (ARVC) are rare causes of ventricular arrhythmias and are associated with sudden cardiac death. Differentiation between both is important for proper management.
Case Summary: We present a 56-year-old man with sudden cardiac arrest and was diagnosed to have ARVC based on cardiac magnetic resonance imaging (MRI).
Sarcoidosis is a chronic inflammatory multisystem disease. The stomach is the most commonly involved gastrointestinal organ. Symptomatic appendicular sarcoidosis is extremely rare.
View Article and Find Full Text PDFEur J Gastroenterol Hepatol
September 2020
Coronoviraus disease 2019 (COVID-19) has infected over two million people worldwide and the number keeps growing every day. While the pulmonary complications of COVID-19 are obvious, the effect of the virus on the other organs and the chronicity of the organ dysfunction remain unknown. The virus causes a debilitating infection with multiorgan injury and has a high mortality rate estimated to be around 3.
View Article and Find Full Text PDFImmune thrombocytopenia (ITP) is a diagnosis of exclusion and can be challenging at times to make the diagnosis. We herein present a case of a 73-year-old male with a history of chronic ITP, who presented to the hospital with sepsis and developed thrombocytopenia. His thrombocytopenia did not improve with resolution of sepsis but improved with ITP treatment including immunoglobulins and steroids.
View Article and Find Full Text PDFMyxedema Ascites is a rare finding of primary hypothyroidism, thereby leading to delayed diagnosis. However, prompt treatment with levothyroxine leads to complete resolution of the condition. We present a rare case of myxedema ascites in an elderly female and highlight the importance of early diagnosis and management.
View Article and Find Full Text PDFDrug-induced methemoglobinemia can be caused due to topical anesthetics, dapsone, nitrates (e.g., nitroglycerin), and metoclopramide.
View Article and Find Full Text PDFWe report a patient with risk factors for both microbial keratitis and endophthalmitis, which were initially challenging to distinguish. Cultures of corneal scrapings yielded several organisms, including an uncultivable Gram-negative rod, eventually identified as . is so named because most strains have been isolated in the Negev, a desert region of southern Israel.
View Article and Find Full Text PDFEmphysematous gastritis is a rare disease with gastric inflammation and intramural gas formation due to gas-forming microorganisms. It is diagnosed based on clinical presentation and imaging findings of gas in the gastric wall. Computed tomography is the preferred imaging modality.
View Article and Find Full Text PDFAmmonia is a well-recognized neurotoxin. Awareness about hyperammonemia, in the absence of liver cirrhosis, may help in lifesaving, prompt diagnosis, and treatment. We present a case of a 53-year-old male who presented to the emergency department (ED) with altered mental status (AMS).
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