Results showed that 91% of patients had not been diagnosed or even suspected of having CA before death. Cardiac amyloidosis in the forms of transthyretin amyloid cardiomyopathy (ATTR-CM) and ...

The D38A variant was the most frequent followed by the M13dup variant. Researchers identified 2 unique variants in the transthyretin (TTR) gene that are predominant among Korean patients with ...

The study highlights the benefits a robust genetic testing program can have, which ultimately has the potential to improve outcomes ATTRv is caused by more than 130 known mutations in the TTR gene and ...

The levels of NT-proBNP, left ventricular mass index, maximal wall thickness, and E/E′ ratio were higher in patients with worse neurological stages compared to those in the early neurological stages ...

The levels of periaxin were significantly elevated in the plasma of patients with peripheral nervous system diseases like CIDP but not in the plasma of patients with central nervous system diseases or ...

Teclistamab and strategies targeting B cell maturation antigen (BCMA) may have therapeutic potential in myasthenia gravis (MG), according to a new case study published in the peer-reviewed scientific ...

The updated 2025 BSR management recommendations for patients with AAV provide systematic and evidence-based recommendations to support UK clinicians in managing AAV across the entire life course.

C-KIT D816Y mutation and spindle-shaped CD25+, CD2+, CD30+ mast cells confirmed SM with associated hematologic neoplasm, warranting altered treatment strategy. This case demonstrated that without ...

A patient with distal acquired demyelinating symmetric neuropathy (DADS) deteriorated and presented with chronic inflammatory demyelinating polyneuropathy (CIDP)-like symptoms after treatment with ...

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 ...

Speakers at the panel “Unlocking the future: the convergence of AI, personalized medicine, and genomics” at the World Orphan Drug Congress USA 2025 (Photo by Riya Ajmera) Artificial intelligence could ...

Two studies in a systematic review of the literature found a significant link between pruritus and disease progression, but 3 studies did not. Pruritus may be associated with a poorer prognosis in ...