Wilson disease in the USA: epidemiology and real-world patient characteristics based on a retrospective observational health claims study.

Objectives: To describe the epidemiology, patient characteristics and comorbidities in patients with Wilson disease (WD) in the USA.

Design: Retrospective, population-based study.

Setting: The study used the US Komodo claims database containing records regarding medical claims for over 120 million individuals.

High-Intensity Interval Training Reduces Liver Enzyme Levels and Improves MASLD-Related Biomarkers in Overweight/Obese Girls.

Background/objectives: Despite the abundant body of evidence linking high-intensity interval training (HIIT) to cardiometabolic markers, little is known about how HIIT affects liver enzymes, particularly in obese adolescents. This study aimed to investigate the effects of HIIT on metabolic dysfunction-associated steatotic liver disease (MASLD)-related biomarkers in overweight/obese adolescent girls.

Methods: Thirty-three overweight/obese adolescent girls (age, 17.

A family with an atypical presentation of TBX3-related disorder.

Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.

The fastest nonprofessional age group IRONMAN triathletes in the world originate from Europe.

It is well known that elite athletes of specific ethnicities and/or nationalities dominate certain sports disciplines (e.g., East Africans in marathon running).