Although disease-specific quality of life (QoL) remains stable, adolescents with childhood-onset growth hormone deficiency (GHD) experience significant mood disturbances—such as increased anxiety, depression, fatigue, and confusion—during the transition from adolescence to adulthood when...

Pulmonary fibrosis develops in about a quarter of patients with autoimmune pulmonary alveolar proteinosis (aPAP) over time, and dust exposure is a significant risk factor for this progression, according to a study. Data...

In patients with homozygous familial hypercholesterolemia (HoFH), specific risk factors for atherosclerotic cardiovascular disease (ASCVD) differ by sex, according to a study that found that while elevated LDL-C levels significantly increase ASCVD risk...

Researchers have developed a simple, rapid, and reliable liquid chromatography tandem mass spectrometry (LC-MS/MS) method for measuring diagnostically important sterols in blood, which can improve the diagnosis and monitoring of rare lipid disorders...

While sponsored genetic testing panels improve access to molecular diagnosis for inherited retinal diseases (IRD), significant challenges remain, including varying positivity rates between providers, discrepancies in variant classification (especially for variants of unknown...