The probability of survival at the end of the follow-up period was significantly lower in patients with cardiac amyloidosis undergoing transcatheter aortic valve replacement (TAVR). Transcatheter ...

Clinical practice guidelines for the diagnosis and treatment of progressive pulmonary fibrosis (PPF) in adults were published in 2022 through collaboration among the American Thoracic Society (ATS), ...

Cardiac scintigraphy had higher sensitivity and specificity across different radiotracers in diagnosing cardiac amyloidosis compared to cardiac magnetic resonance imaging. Cardiac scintigraphy, ...

An ongoing open-label extension study suggests that the therapy's benefits may extend through at least 52 weeks. Deupirfenidone (LYT-100), a next-generation antifibrotic therapy, demonstrated a ...

The vast capabilities of artificial intelligence mean that it can applied to various domains of medicine, including in the rare disease space. To much of the public, artificial intelligence (AI) may ...

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

NMOSD is a rare autoimmune disorder characterized by inflammation and demyelination of nerves in the central nervous system (CNS), particularly the optic nerves and spinal cord. It typically manifests ...

Sickle cell disease is inherited in an autosomal recessive pattern, which means that a child is born with SCD only when they inherit 2 defective copies of the sickle cell gene (1 from each parent). If ...

Gastrointestinal involvement in systemic mastocytosis (SM) is a common complication and often leads to endoscopic findings. Gastrointestinal (GI) symptoms are the second most frequent clinical ...

In diagnosed cases of cutaneous mastocytosis, investigations to rule out systemic mastocytosis may be appropriate. A young child with a small chest lump and anemia was found to have cutaneous ...

Bone marrow flow cytometry is one of the most efficient ways to diagnose or exclude PNH. A patient with a history of cortical vein thrombosis with new-onset pancytopenia was diagnosed with paroxysmal ...

Both a higher Charlson Comorbidity Index score and older age showed a significant prognostic impact on all-cause mortality. Chronic lymphocytic leukemia (CLL) progression was the leading cause of ...