After 26 weeks, children with achondroplasia who were treatment-naive achieved an increase in annualized growth velocity from 4.92 to 9.14 cm/year, whereas children previously treated with ...

Feature importance analysis using Shapley additive explanations values identified right atrial (RA) and PA volumes as the most influential features for the new model. A novel, fully automated random ...

The Nakanuma bile duct loss score may be an important indicator for the prognosis of PBC in the early stages of the disease, a study found.

Annualized bleed rates have been reduced to zero among patients in Great Britain with severe congenital hemophilia A without factor VIII inhibitors. Rare Disease Advisor, a trusted source of medical ...

Seventeen of the 22 ultimately diagnosed with cMCD had relatively low basal serum tryptase, and 64% initially tested negative for peripheral blood KIT p.D816V. SM is a rare disorder involving the ...

Elizabeth Hsia, MD, MSCE, speaks at the 2025 International Society of Ultrasound in Obstetrics and Gynecology World Congress (Photo by Brian Murphy PhD) For neonates with HDFN who received postnatal ...

The majority (90%) of neurologists were aware of 40 out of 61 recommendations on the treatment of myasthenia gravis (MG). Most Spanish neurologists know, agree on, and apply guidelines for the ...

Transthyretin amyloids-specific drugs led to a trend toward less decline in the 6-minute walk distance and were associated with a significantly blunted decline in Kansas-City ...

Patients who live with rare conditions have specialty care teams. You have a primary doctor, and you have other doctors who specialize in the care you need based on your condition. I have Pompe ...

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 ...

Although interstitial lung disease is not typically associated with AAV, evidence suggests their coexistence is not uncommon. Administering rituximab in addition to a short course of glucocorticoids ...

Over 52 weeks, treprostinil was superior to placebo in absolute FVC by 95.6 mL from baseline, regardless of background therapy, smoking status, or supplemental oxygen use. United Therapeutics ...