I have been fighting the battle of living with Pompe disease but I am challenging what doctors define as possible with this disease. I live in South Africa with late-onset Pompe and I have been doing ...

Which of the following statements about the pathophysiology of systemic mastocytosis (SM) are correct? Select one of the options for each question, then submit your answers to see how well you scored ...

Rituximab was highlighted by the study's authors as an attractive alternative for patients who are intolerant to steroids or prone to IgG4-RD relapses. A new systematic review and meta-analysis has ...

A patient diagnosed with IgG4-related disease after presenting with liver dysfunction and aortic dissection demonstrated the complexities of IgG4-RD. A patient presented with chronic aortic dissection ...

EDN1, an endothelial cell-derived factor, plays a important role in the pathogenesis of PAH by increasing vasoconstriction and cell proliferation. Among individuals with pulmonary arterial ...

Hyperviscosity syndrome is a possible complication of IgG4-RD, and its early recognition and treatment is vital. A middle-aged patient was diagnosed with hyperviscosity syndrome associated with ...

Plasma cells may contribute to fibrosis in IgG4-SA by activating fibroblasts through PDGF/PDGFR signaling. Results from a study on tissue samples published in the Journal of Clinical and Experimental ...

The improved survival of patients with PAH in recent years may be due to new PAH-specific therapies rather than to anticoagulant medication. A new systematic review and meta-analysis of studies on the ...

(Getty Images) Among social determinants of health, social connectedness was most strongly associated with the misdiagnosis of myasthenia gravis. Patients with MG misdiagnoses had a higher burden of ...

Senior correspondent Larry Luxner interviews pulmonologist Drew Harris, MD, medical director of the Stone Mountain Health Services Black Lung Program. Larry Luxner, senior correspondent for Rare ...

In the Japanese open-label extension study, patients with CAD reported fewer treatment-emergent adverse events. One patient experienced mild urinary tract infection linked to sutimlimab. Sutimlimab ...

Dr. Test is chair of the pulmonary vascular disease program at Texas Tech School of Medicine in Lubbock. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Victor Test, MD, an ...