Hereditary transthyretin amyloid polyneuropathy (ATTR-PN) due to a Ala97Ser(p.Ala117Ser) mutation in the TTR gene is relatively rare in South Mainland China, and many cases were misdiagnosed as ...

There are a few debated issues about what one is at risk for if the person has alpha-1 antitrypsin deficiency (AATD). Some things are known for sure, such as the risk of lung or liver disease and ...

Cardiovascular autonomic dysfunction was more common among patients with NMOSD than those with MS. This finding suggests that cardiovascular monitoring should be a priority in patients with NMOSD who ...

Patients with MF who did not receive ruxolitinib had higher levels of the inflammatory cytokines CD25, REG3A, IL18, and ST2 than those treated with ruxolitinib at baseline. The baseline cytokine ...

Pulmonary rehabilitation is an underutilized tool in the management of PAH. Referrals to pulmonary rehabilitation among patients with pulmonary arterial hypertension (PAH) are relatively low despite ...

Navepegritide was well tolerated, with a safety profile comparable to placebo and low rates of injection site reactions. Navepegritide significantly improved growth outcomes in children with ...

IgG4 and IgG staining revealed an IgG4/IgG ratio of 0.4, although serum IgG4 estimation was not performed. Inflammatory pseudotumors with overlapping features of immunoglobulin G4-related disease ...

Patients with NMOSD demonstrated significantly higher adrenergic dysfunction compared to patients with MS. In addition, the cardiovascular autonomic dysfunction scores of patients with NMOSD were also ...

The discovery of biomarkers associated with inhibitor development may boost preventative treatment strategies. Raised levels of granulocyte colony-stimulating factor (G-CSF) and interleukin-6 (IL-6), ...

I recently read an article on Rare Disease Advisor’s (RDA) website that has resonated with me as someone with alpha-1 antitrypsin deficiency (AATD). Larry Luxner, a great contributor to RDA, wrote ...

Diagnostic genes such as VCAM1 and ITGA2 showed strong associations with hypoxic smooth muscle cell subtypes in PAH. Machine learning and multiomics analysis revealed 2 distinct molecular subtypes of ...

As president and CEO of the GBS/CIDP Foundation International, Lisa Butler oversees a staff of 20 and an annual budget of approximately $6 million. Larry Luxner, senior correspondent for Rare Disease ...