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Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

Using a mouse model, scientists have found that the small molecule tubastatin A may be a potential treatment for Cushing’s disease. Tubastatin A was shown to reduce the activity of genes encoding the precursor of the adrenocorticotropic hormone (ACTH), and to lessen the growth of ACTH-producing tumor cells isolated…

Even with biochemical remission — having normal biochemical markers for liver inflammation — patients with Cushing’s disease have a two times higher risk of mortality compared with people without the disorder, a Swedish study found. Cardiovascular diseases and infections were the main causes of death, highlighting the importance of close…

Subclinical Cushing’s syndrome may be a risk factor for developing central serous chorioretinopathy, an eye disorder wherein fluid accumulates at the back of the eye, according to a recent case report. The report, “Association of chronic central serous chorioretinopathy with subclinical Cushing’s syndrome,” was published in the American…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

People with active Cushing’s disease have a smaller volume of gray matter — the outer layer of the brain extending into the spinal cord, where most nerve and other cells are found — and an unusual distribution of iron in the brain, a study reported. Importantly, abnormal iron redistribution…

The levels of a small number of microRNAs (miRNAs) — small RNA molecules that regulate the activity of other genes — are significantly different between tumors in the brain’s pituitary gland that cause Cushing’s disease and those not associated with the disease, a study shows. Notably, hsa-miR-124-3p, an miRNA…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…

A “block-and-replace” regimen of corticosteroid therapy can be used to manage COVID-19 in people with Cushing’s disease, a new report highlights. The report, “COVID-19 and Cushing’s disease in a patient with ACTH-secreting pituitary carcinoma,” was published in the journal Endocrinology, Diabetes and Metabolism Case Reports.

People with Cushing’s disease have a high risk of being deficient in vitamin D, but taking supplements can improve those levels, a new study indicates. Results also showed that lower vitamin D levels are associated with higher levels of cortisol, a stress hormone that is elevated in Cushing’s. The…