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), ...

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 ...

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 ...

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 ...

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 ...

PHOENIX, Arizona—Biomarkers “are a hot topic in myasthenia gravis (MG),” Anna Punga, MD, PhD, said during her keynote speech at the Myasthenia Gravis Foundation of America (MGFA) session of the 2023 ...

Individuals with advanced liver disease may also experience significant weight loss due to nausea and poor appetite. Candidates for liver transplantation may need to gain weight to optimize surgical ...

While tracheostomy placement is common in skeletal dysplasia, those patients with achondroplasia are less likely to need a tracheostomy. A new retrospective review of patients with skeletal dysplasia ...

Nusinersen, an SMN2-targeted antisense oligonucleotide drug administered by intrathecal injection, was able to improve motor function and survival. Treatment with nusinersen can improve motor function ...

Obeticholic acid, seladelpar, and elafibranor all significantly increased the biochemical response rate. Elafibranor seems to be slightly more effective than seladelpar as a second-line therapy in ...