The authors observed that patients with extreme thrombocytosis had better overall survival (OS) than those with lower platelet counts. The presence of thrombocytosis in patients with myelofibrosis (MF ...

Smoking and frequent exacerbations increased lung function decline in both groups, but particularly in those with the PiZZ genotype. Patients with the PiZZ genetic form of alpha-1 antitrypsin ...

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 ...

It’s 2:25 am as I sit down to write this column. I’ve been awake for almost 2 hours and unable to go back to sleep. I had an immune thrombocytopenia (ITP) relapse, something I’ve been afraid of ...

In the US real-world data, the cumulative incidence of infection was 67.3%, that of serious infection was 8.4%, and the cumulative incidence of sepsis was 4.9%. Infections are a major comorbidity ...

Jerry Lewis, one of the most famous comedians of the 20th century, was a tireless advocate for people with muscular dystrophy. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews ...

Patients with Friedreich ataxia (FA) have high levels of cardiac troponin T in their serum suggesting an association with the severity of hypertrophic cardiomyopathy but there is no association ...

Study results revealed that almost half of all participants experienced poor sleep quality and insomnia during attack-free periods, and sleep scores worsened during attack periods. Individuals with ...

Researchers found that the 3.5 g fixed dose maintained more than a threefold safety margin for all body weight groups, and efficacy targets were reached in over 90% of the population. A ...

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 ...

Mothers with a higher prepregnancy body mass index, renal disease, and hypertension had higher rates of HDFN. Hemolytic disease of the fetus and newborn (HDFN) is more common among older mothers, ...

In patients with IgG4-related cholangitis, a key focus of disease management should be using long-term surveillance approaches. Early diagnosis of the hepatobiliary manifestation of immunoglobulin ...