Growth hormone replacement therapy (GHRT) in children with craniopharyngiomas does not appear to increase the risk of tumor progression or recurrence, according to a study. The systematic review and meta-analysis analyzed 11 studies...

Key studies and patient experiences highlight breakthrough treatments, diagnostic challenges, and the impact of fibrosis in this rare lung disease.   1. Rare case of pulmonary alveolar proteinosis linked to Bacillus megaterium infection...

The European Commission has extended the approval of Evkeeza (evinacumab) to include children as young as 6 months old with homozygous familial hypercholesterolemia (HoFH), an ultrarare inherited condition characterized by dangerously high levels...

Aanti-C1q antibodies are highly prevalent in IgG4-related disease (IgG4-RD), especially in patients with renal involvement and cutaneous small-vessel vasculitis (CSVV), supporting the role of immune complex-mediated complement activation in the disease's pathogenesis, according...

Although individuals with Smith-Lemli-Opitz syndrome (SLOS) can survive into adulthood, those with higher severity scores and lower initial cholesterol levels face an increased risk of postnatal mortality, according to a study. The recent...

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...