News

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

A pooled analysis of studies and data from a single center in Brazil suggest that people with Cushing’s disease (CD) who carry USP8 mutations, its major genetic cause, have differing outcomes, including in disease recurrence after surgery, from those who do not. But a robust and more certain analysis…

Pituitary gland tissue analysis during surgery can help confirm a Cushing’s disease diagnosis and define the best strategy to treat patients with small pituitary tumors, according to a study. The study, “The Utility of Intraoperative Cytological Smear and Frozen Section in the Surgical Management of Patients with…

When Cushing’s disease is not caused by mutations in the USP8 gene — the main driver of ACTH-producing pituitary adenomas — it’s likely that mutations in USP48 or TP53 are to blame, a new study found. The study, “Driver mutations in USP8 wild type Cushing’s disease,” was published in the journal Neuro-Oncology.

Asymmetry of blood outflow patterns from the inferior petrosal sinus (IPS) — the two main veins which drain the pituitary gland — does not make it more difficult to figure out which side of the gland has an adenoma that is causing Cushing’s disease, a study suggests. Titled…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

Tumors in the thymus that produce too much of the adrenocorticotropic hormone (ACTH) may be the cause of ectopic Cushing’s syndrome, a case report shows. ACTH staining may be useful to confirm ACTH production in suspicious tumors, researchers said. The study, “Ectopic Cushing’s syndrome due to adrenocorticotropic hormone secreting…

Cases of adrenocorticotropic hormone (ACTH)-independent Cushing’s syndrome are often caused by unilateral tumors in the adrenal glands, but Indian researchers have now reported a rare case where the condition was caused by tumors in both adrenal glands. Fewer than 40 cases of bilateral tumors have been reported so far, but…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Patients with Cushing’s disease may develop post-traumatic stress symptoms, which are generally resolved once they undergo surgery to remove the tumor, but can persist in some cases, a study shows. The study, “Posttraumatic stress symptoms (PTSS) in patients with Cushing’s disease before and after surgery: A prospective…