The average telomere loss in patients with SSc was approximately 223 base pairs per year, compared with 30-60 pairs per year in normal aging. Shortened peripheral blood leukocyte telomere length ...

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 ...

Eventually, I will run into a doctor who has never heard of Pompe and wants all the information about it from me. Rare Disease Advisor, a trusted source of medical news and feature content for ...

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 ...

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.

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 ...

Intercept Pharmaceuticals, the developer of the PBC drug, suggested that the company's view on the drug's benefit and risk profile differed from that of the US Food and Drug Administration.

Signage at the 2025 International Society of Ultrasound in Obstetrics and Gynecology World Congress in Cancún, Mexico (Photo by Larry Luxner) Despite extensive investigations, the underlying etiology ...

Patients showed clinically meaningful improvement in the Myasthenia Gravis (MG) Composite scale, MG Activities of Daily Living score, Quantitative MG scores, and Quality of Life 15-revised score at ...

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 ...

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 ...

The patient was diagnosed with primary diffuse large B-cell lymphoma (DLBCL) of the optic nerve based on histopathologic analysis of biopsy. Researchers from Poland reported the case of a patient with ...