The thicker, and potentially stiffer, sclera can lead to overestimation of intraocular pressure (IOP) and potential misdiagnosis of glaucoma. Patients with acromegaly have significantly thicker ...

Early recognition of acromegalic features can expedite diagnosis and reduce heart failure risk. Timely surgical resection of a growth hormone-secreting pituitary adenoma, combined with ...

The prevalence of type 2 diabetes in patients with autoimmune liver disease was 27.6%. Type 2 diabetes seems to reduce the risk of primary sclerosing cholangitis (PSC), and primary biliary cholangitis ...

Early tacrolimus + prednisolone + nintedanib therapy markedly improved the forced vital capacity decline slope from –20.9% to +11.2% per year in untreated PPF. Initiating combination therapy with ...

Three of the 4 patients with hereditary transthyretin amyloidosis (ATTR) and a negative bone scintigraphy had cardiac carbon-11-labeled Pittsburgh compound B uptake. Cardiomyopathy could be detected ...

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 ...

A systematic review and meta-analysis of trials in CIDP was published in 2023, studying the outcomes of patients including at least 2 years of follow-up. Studies conducted over 1 to 2 years ...

The Stride Velocity 95th Centile (SV95C) showed sensitivity to a decline in the ability to walk over short intervals in patients with Duchenne muscular dystrophy (DMD), according to a new study ...

(L-R) Rare Disease Advisor senior correspondent Larry Luxner, patient columnists Alithea Athans, Tara Keith and Tom Bartlett, and director of advocacy relations Vera Luxner (Photo by Riya Ajmera) ...

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 ...

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 ...

The most frequently mutated genes were associated with epigenetic regulatory mechanisms, namely TET2, ASXL1, and DNMT3A. Next-generation sequencing (NGS) identified 14 gene mutations with diagnostic ...