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 ...

Oral infigratinib demonstrated the first statistically significant improvement in body proportionality in a randomized achondroplasia trial. BridgeBio Pharma reported positive topline results from ...

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 ...

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 ...

Taylor Kane is executive director of Remember the Girls, a nonprofit group that advocates on behalf of females with X-linked disorders (Photo courtesy of Taylor Kane) New Jersey native Taylor Kane ...

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 modified Spinal Muscular Atrophy Functional Rating Scale (SMAFRS) is a psychometrically stable and unidimensional outcome measure, even though certain items are misfitting like those related to ...

(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 ...