Four new mutations of the AIRE gene were identified for the first time in Chinese patients with autoimmune polyendocrine syndrome type 1 (APS1), a case series reports. The report also presents a thorough evaluation of the clinical and genetic characteristics of Chinese APS1 patients and some rarely observed symptoms.
Low levels of the parathyroid hormone (PTH) soon after a thyroidectomy is linked to a greater risk of chronic hypoparathyroidism, or that lasting more than six months, a study reported. Its findings suggest that blood tests to measure PTH levels may allow doctors to discharge sooner patients who are at low…
Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…
Typically, it takes nearly three months before people newly diagnosed with chronic, post-surgical hypoparathyroidism arrive at a stable dose of calcium and vitamin D supplements, a study reported, rather than several weeks. But many patients in this study also experienced abnormally high or low calcium levels even after a stable dose…
Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…
Assessing parathyroid hormone (PTH) levels in children after surgery to remove the thyroid gland, and beginning preventive therapy to those at high risk of hypocalcemia, increased safety and shorted their hospital stay, a study reported. Hypocalcemia, or potentially harmful low calcium levels, is a frequent complication of surgery to remove…
More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…
The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other U.S. patient organizations. The interim final rule will implement patient protections required by the No Surprises Act. Surprise…
Some mutations in non-coding regions of the calcium-sensing receptor (CASR) gene change the function of the resulting protein and are associated with hypoparathyroidism, a study suggests. While mutations in non-coding regions — DNA sections that do not provide instructions to produce a protein — do not directly alter the…
AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…
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