General anesthesia provides similar pain control to nerve block-assisted anesthesia after limb lengthening surgery, common in achondroplasia.

Intravenous immunoglobulin therapy, a key treatment used in managing FNAIT, has been linked to the development of thrombocytopenia.

A new clinical trial is recruiting patients with Fabry disease and renal disease to test the pharmacokinetics of migalastat.

Therapies for Gaucher disease generally fall into 2 main categories: enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Neither ERT nor SRT effectively treats the neurological ...

Healthcare professionals generally agree that genetic testing can be useful in the HAE diagnostic process, but many urge caution in interpreting results.

The prevalence of pregnant women administered anti-D prophylaxis antenatally remains worryingly low in India.

A clinical scoring system has been validated for predicting 30-day mortality in acute exacerbations of idiopathic pulmonary fibrosis (IPF).

Elevated basal serum tryptase levels in SM and HαT, as well as overlapping clinical characteristics, complicate the diagnostic process for both disorders.

Very high-frequency ultrasound enabled detection of small anechoic subdural collections (SDC) in neonates, often associated with FNAIT.

Noninvasive imaging-based prediction may reduce the need for cardiac catheterization in pediatric PAH. A pilot study published in The International Journal of Cardiovascular Imaging demonstrated that ...