An acute life-threatening episode of rhabdomyolysis, renal failure, altered mental status and hyperammonemia in an adult with 3-methylcrotonyl-CoA carboxylase deficiency.

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an autosomal recessive disorder of leucine metabolism. Since 3-MCC deficiency is thought to be a benign condition, a few newborn screening programs discontinued to screen this condition. We report a case of a 24-year-old previously healthy male patient who developed generalized rhabdomyolysis, weakness, respiratory and renal failure, acute pancreatitis, hyperammonemia, and altered consciousness after strenuous exercise.

Pitfalls in Interpretive Applications of Artificial Intelligence in Radiology.

Interpretive artificial intelligence (AI) tools are poised to change the future of radiology. However, certain pitfalls may pose particular challenges for optimal AI interpretative performance. These include anatomic variants, age-related changes, postoperative changes, medical devices, image artifacts, lack of integration of prior and concurrent imaging examinations and clinical information, and the satisfaction-of-search effect.

Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy.

Hearing loss is frequently associated with Gaucher disease (GD). Gaucher cells are enlarged reticuloendothelial cells containing glucocerebroside in the lysosomes due to deficiency of the glucocerebrosidase. Gaucheromas consist of accumulated Gaucher cells.

De novo variants in immune regulatory genes in Down syndrome regression disorder.

Background: Down Syndrome Regression Disorder (DSRD) is a rare and poorly understood disorder of the central nervous system, characterized by acute or subacute neuropsychiatric symptoms in previously healthy individuals with Down syndrome (DS). Many patients exhibit immunotherapy-responsiveness, indicative of immune dysregulation as a potential underlying etiology. While hypotheses are emerging regarding the role of interferon signaling in DSRD and other autoimmune conditions associated with DS, it is unclear why a small subset of individuals with DS develop DSRD.

Barriers to liver transplant referral in safety net settings: A national provider survey.

Safety net systems care for patients with a high burden of liver disease yet experience many barriers to liver transplant (LT) referral. This study aimed to assess safety net providers' perspectives on barriers to LT referrals in the United States. We conducted a nationwide anonymous online survey of self-identified safety net gastroenterologists and hepatologists from March through November 2022.

Grill-Related Burn Injuries: A Matched Cohort Study.

Barbequing can result in devastating burn injuries with unsafe practices. This study aims to characterize the demographics, injury characteristics, and outcomes of grill-related burns and identify ways of burn prevention. A retrospective review of patients admitted to a single-institution, metropolitan burn center from January 1, 2017, to July 1, 2023.