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.

Approximately 42% of patients showed evidence of SMN1 to SMN2 conversion, confirmed by the presence of SMN1-specific variants downstream of SMN2. To shed more light on the genetic determinants of SMA ...

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 ...

In CIDP, SOC therapies (immunoglobulins/corticosteroids) are burdensome, have variable efficacy, and significant side-effects. Two phase 3 clinical trials, MOBILIZE ...

Further research is needed to establish if there is a causative link between avacopan and liver injury. A patient with microscopic polyangiitis (MPA)—a form of antineutrophil cytoplasmic antibody ...

Findings from inverse variance weighting analysis showed that the presence of hypothyroidism might increase an individual’s risk for PAH (OR, 1.485; 95% CI, 1.051-2.100; P = .025). The presence of ...

Several factors can contribute to the suppression of bone marrow erythropoiesis in infants with HDFN, including maternal antibodies, intrauterine transfusion, and simple transfusion. The suppression ...

This comprehensive popPK analysis adds to the pool of knowledge on oligonucleotide PK properties and helps optimize the appropriate use of imetelstat. The nonlinear mixed-effects model identified ...