Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
News
The cancer medicine bexarotene may hold promise for treating Cushing’s disease, a study suggests. The study, “Targeting the TR4 nuclear receptor with antagonist bexarotene can suppress the proopiomelanocortin signalling in AtT‐20 cells,” was published in the Journal of Cellular and Molecular Medicine. Cushing’s disease is caused…
While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…
Physicians should consider the possibility of Cushing’s disease in patients presenting with an adrenal tumor normally associated with other forms of Cushing’s syndrome, a case report suggests. The report, “Coexistence Of Cushing Disease With A Solitary Acth-Dependent Adrenal Adenoma,” was published in the journal AACE…
Patients with active Cushing’s disease have lower blood levels of irisin, a hormone secreted by muscle cells, than those with controlled disease and healthy people, a study has found. Thus, measuring the levels of irisin may become a marker for diagnosing impairments of bone, muscle, and fat (adipose) tissues…
The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…
Only about 10% of Cushing’s syndrome patients are children. Now, a rare case of the disease has been described in a 4-year-old child. The researchers reported that Cushing’s in this young boy was controlled following surgery to remove a single, large tumor. The report, “Cushing’s Syndrome in…
A stimulation test with human choriogonadotropin (hCG) — a hormone normally produced by the placenta to sustain pregnancy — should be performed very soon after a women suspected of pregnancy-induced Cushing’s syndrome gives birth, to confirm a diagnosis, a case report highlighted. The case report, “Pregnancy-induced Cushing’s…
Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…
Treatment with Etomidate worked to reduce severely elevated cortisol levels in a 2-month-old girl with Cushing’s syndrome caused by adrenal cancer, a case study reported. According to the researchers, the study describes the second reported case — in the youngest patient to date — of etomidate…
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