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Metabolic cardiomyopathy associated with a compound heterozygous variant in NAD(P)HX dehydratase: a case report and literature review.

Transl Pediatr

December 2024

Department of Pediatric Intensive Care Unit, National Regional Medical Center, Guizhou Branch of Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Guizhou Provincial People's Hospital, Guiyang, China.

Background: Metabolic cardiomyopathy is characterized by structural and functional changes to the heart and interstitial fibrosis without coronary artery disease or hypertension. Inborn metabolic defects are a common cause of cardiomyopathy in children. There are more than 40 kinds of inborn metabolic defects that cause cardiomyopathy.

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Introduction: Binge Eating Disorder (BED) has high lifetime prevalence rates, low treatment success rates, and high rates of treatment dissatisfaction, early discontinuation of care, and recurrence. Complementary and integrative health (CIH) interventions (non-mainstream practices used with conventional approaches for whole-person treatment) hold potential to overcome many treatment barriers and improve BED treatment outcomes. Some CIH interventions have empirical support for use in eating disorders.

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Hepatic encephalopathy (HE) is traditionally associated with hepatic parenchymal diseases, such as acute liver failure and cirrhosis. Its prevalence in non-cirrhotic portal hypertension (NCPH) patients, extrahepatic portal vein obstruction (EHPVO), and non-cirrhotic portal fibrosis (NCPF) is less well described. HE in NCPH allows one to study the effect of portosystemic shunting and ammonia without significant hepatic parenchymal injury.

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We report the case of a 29-year-old male soldier with a time in service above 10 years, found to have asymptomatic long QT syndrome (LQTS), a condition associated with increased risk of potentially fatal ventricular arrhythmias, during a flight physical. A review of his past medical history revealed a transient QT prolongation during an episode of hypoglycemia due to endogenous hyperinsulinism caused by an insulinoma, as an infantryman 7 years earlier; the resolution of the QT prolongation was spontaneous. He was evaluated and considered fit for duty by cardiology.

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Famotidine is an H2 receptor antagonist and is currently used on a large scale in gastroenterology. However, Famotidine may also cause severe toxicity to organ systems, including the blood system, digestive system, and urinary system. The objective of this study was to scientifically and systematically investigate the adverse events (AEs) of Famotidine in the real world through the FDA Adverse Event Reporting System (FAERS) database.

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