The chronic use of a TGF-β-targeting phosphorodiamidate morpholino oligomer (PMO) and dystrophin exon-skipping PMO reduced muscle fibrosis and loss, restored dystrophin expression in skeletal and ...

Given the results, the investigation of intranasal carbetocin in PWS has been halted. Intranasal carbetocin did not demonstrate clinical benefit for hyperphagia in patients with Prader-Willi syndrome ...

Dutch obstetrician Monique Haak, MD, demonstrates ultrasound techniques at ISUOG 2025 in Cancún, Mexico. (Photo by Larry Luxner) Congenital heart disease is the most common deformity in fetuses, yet ...

Which of the statements below about the genetics of acute lymphoblastic leukemia (ALL) are correct? Select one of the options for each question, then submit your answers to see how well you scored and ...

In the pivotal LUNA 3 trial, durable platelet response at week 25 was achieved by 23% of patients with rilzabrutinib compared with 0% with placebo. The US Food and Drug Administration (FDA) has ...

The potential of vitamin D as an add-on therapy lies in its immunomodulatory effect on T cell-mediated and humoral immune responses, complement activation, cytokines, and inflammasomes. Vitamin D ...

Several guidelines have been developed for the diagnosis and management of Fabry disease. The focus of treatment is preserving organ function, maximizing quality of life, and normalizing life ...

Two patients carried the c.1620C>G mutation associated with hypochondroplasia, underscoring the need for confirmatory genetic testing. Accurate genetic evaluation is essential for confirming ...

Around a third (32%) of patients had asymptomatic or mild neutropenia, but more than half (54%) needed hospitalization. However, the authors cautioned that when it occurred, neutropenia “was not ...

Transthyretin amyloid deposits were observed mainly in the vessel walls of various organs throughout the body in all autopsy cases with Alzheimer's disease and ATTR-CM. Transthyretin (TTR) amyloid ...

The updated 2025 BSR management recommendations for patients with AAV provide systematic and evidence-based recommendations to support UK clinicians in managing AAV across the entire life course.

Stiripentol appears to be a tolerable and effective treatment for seizures in patients with Dravet syndrome (DS) and other similar conditions, according to a study published in the journal Neurology ...