Age over 75 years was significantly associated with reduced survival and shorter time on treatment. Ibrutinib remains an effective therapy for chronic lymphocytic leukemia (CLL), but older patients ...

Results of the ApproaCH trial showed that navepegritide improved AGV over placebo in pediatric patients with achondroplasia.

Expert consensus has been achieved on a minimum data set for growth hormone monitoring in children with Prader-Willi syndrome (PWS).

Once Fabry disease is suspected, the diagnostic approach differs by sex, although genetic testing is required to confirm the diagnosis in all individuals. 1 This distinction exists because some ...

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 ...

Comprehensive single-cell and spatial transcriptomic analyses of cholangiocarcinoma (CCA) uncovered distinct molecular programs distinguishing intrahepatic from extrahepatic subtypes, providing ...

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

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

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

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

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

Large language models may offer complementary value to human expert analysis in the diagnosis of achondroplasia and other skeletal dysplasias.