The ratio between adrenocorticotropic hormone levels and cortisol levels in the blood is higher among Cushing’s disease patients than in healthy people, a new study has found, suggesting that measurement could be used to help diagnose the disease. Also, higher values at diagnosis could predict if the disease will recur…
Chronic alcoholism and associated magnesium and potassium deficiencies may cause a condition, called pseudo-Cushing’s syndrome, a recent case report from Japan shows. The research, “Hypokalemia associated with pseudo-Cushing’s syndrome and magnesium deficiency induced by chronic alcohol abuse,” was published in the journal CEN Case Reports. Chronic…
When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD, for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…
In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…
Increases in cortisol secretion, even if mild, induce early heart and blood vessel changes that may increase the risk for cardiovascular disease, according to Italian researchers. The findings continue to support the role of the hormone cortisol in heart disease, and demonstrate the need for carefully monitoring cardiovascular risk in patients…
Intranasal steroid drops used to treat nasal obstruction may cause Cushing’s syndrome and adrenal insufficiency in infants, a case study of two patients suggests. The study, “Iatrogenic Cushing’s syndrome and adrenal insufficiency in infants on intranasal dexamethasone drops for nasal obstruction – Case series and literature review,” was published…
At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…
Pituitary tumors that produce too much adrenocorticotropic hormone (ACTH) have been associated with the development of rare tumors on the adrenal glands, called adrenal myelolipomas, for the first time in a case report. The study, “Case report of a bilateral adrenal myelolipoma associated with Cushing disease,” was published…
Children with Cushing’s syndrome are at risk of developing new autoimmune and related disorders after being cured of the disease, a new study shows. The study, “Incidence of Autoimmune and Related Disorders After Resolution of Endogenous Cushing Syndrome in Children,” was published in Hormone and Metabolic Research.
Measuring the levels of a specific enzyme in pituitary tumors producing excess adrenocorticotrophic hormone (ACTH) may help predict the recurrence of Cushing’s disease in patients, a study shows. The study, “Expression of MMP-9, PTTG, HMGA2, and Ki-67 in ACTH-secreting pituitary tumors and their association with tumor recurrence,”…
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