The registry’s primary outcome measure is the prevalence of the systemic form of mastocytosis in the studied population. A new single-center longitudinal registry of patients with cutaneous and ...

There were significant associations between echocardiographic parameters, such as increased left ventricular mass and greater interventricular septal thickness at end-diastole, and positive 99mTc-PYP ...

The short-supervised group used CPAP fewer hours per night and had lower adherence adjusted for age-specific sleep needs. Two different strategies for continuous positive airway pressure (CPAP) ...

A monocyte mitochondrial superoxide cutoff accurately stratified short-term survival risk in hepatocellular carcinoma. Circulating leukocyte mitochondrial oxidative stress may be a protective ...

Seladelpar treatment was significantly associated with an increased normalization in the levels of alkaline phosphatase, a biomarker of cholestasis, in patients with primary biliary cholangitis (PBC).

Sickle cell disease (SCD) is an autosomal recessive disease and the most common genetic disease in the United States, predominantly affecting African Americans at a rate of approximately 1 in 500. One ...

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 ...

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 ...

Between 1970 and 1995, the incidence of new NHL cases increased. Between 2007 and 2016, new cases declined by approximately 0.9% per year, and mortality from NHL decreased by 2.2% per year. 3 ...

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 ...

My recent liver biopsy was a case study of Murphy’s Law in action. And as I share the details of my saga, I’m mindful that my experience is the exception, not the rule. I do not want to discourage ...

Dan Lier has light chain (AL) amyloidosis—the most common form of amyloidosis. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews former college basketball player Dan Lier, a ...