Combination therapy (intravenous immunoglobulin + plasma exchange) produced the best outcomes in HDFN, improving biomarkers, clinical recovery, jaundice duration, and hospital stay. Hemolytic disease ...

Individuals who experienced the most rapid disease progression had relatively elevated triglycerides and liver enzymes, higher BMI, and lower HDL. Researchers used the results of frequently ordered ...

Increased bone mineral density data at 1 and 3 years suggest potential benefit beyond symptom control in a disease complicated by secondary osteoporosis. Avapritinib maintains durable symptom relief ...

Foramen magnum development may be largely determined in utero, potentially explaining why postnatal vosoritide was unable to prevent stenosis. Two infants with achondroplasia who initiated vosoritide ...

Vesna Aleksovska knows of only 15 other people with Gaucher disease in her country of 1.8 million people. Rare Disease Advisor, a trusted source of medical news and feature content for healthcare ...

Individuals with advanced liver disease may also experience significant weight loss due to nausea and poor appetite. Candidates for liver transplantation may need to gain weight to optimize surgical ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

From landmark gene therapy approvals to illuminating discoveries into the pathogenesis of rare diseases, 2023 saw substantive advances in rare disease diagnosis and treatment. The following list of ...

Taylor Kane is executive director of Remember the Girls, a nonprofit group that advocates on behalf of females with X-linked disorders (Photo courtesy of Taylor Kane) New Jersey native Taylor Kane ...

A mediation analysis revealed that 16.4% of nintedanib's effect on the change in forced vital capacity at week 52 was attributed to the treatment-induced reduction in the level of cancer antigen 125 ...

The use of semaglutide has been associated with improvement of treatment-resistant mast cell activation symptoms in an overweight patient with SM. Glucagon-like peptide-1 receptor agonists (GLP-1RAs) ...

These findings demonstrate that caregiving for a patient with HAE is a high-intensity role that severely compromises emotional well-being and productivity. The unpredictable and potentially ...