A woman in China developed rare changes in her heartbeat, which were associated with low blood calcium caused by hypoparathyroidism, according to a case report. Using an electrocardiogram (ECG) — a line graph that shows how the electrical activity of the heart changes over time — scientists were able…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
Hypoparathyroidism caused a buildup of pressure around a young girl’s brain, according to a report from Italy focused on a difficult diagnosis. “Our case report is of particular interest, since the child did not present with typical neurological hypoparathyroidism symptoms,” the researchers wrote. “Therefore, we recommend that hypoparathyroidism should…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Transplanting parathyroid gland cells into the forearms of a hypoparathyroidism rat model restored hormone and calcium levels, a study reported. These findings support further developing a parathyroid cell transplant for people with hypoparathyroidism caused by the removal of the parathyroid glands, the scientists said.
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Six months of treatment with Forteo (teriparatide) — a lab-made parathyroid hormone fragment approved for osteoporosis — safely led to calcium and phosphate control in a 4-month old girl with severe hypoparathyroidism, a case report found. These findings highlight the potential of this off-label medication to treat infants with…
Vitamin D levels can accurately predict reductions in parathyroid hormone (PTH) following thyroidectomy in patients with papillary thyroid cancer (PTC), a study reports. Its researchers recommend vitamin D supplements before surgery to minimize the drop in PTH levels in patients with PTC who have vitamin D deficiency. The study, “…
Starting immunosuppressive treatment early in the disease course normalized some signs of autoimmunity, halted the development of additional autoimmune diseases, and reversed total body hair loss in a girl with autoimmune polyglandular syndrome type 1 (APS1), a case study shows. While immunosuppressive therapies have been generally reserved for life-threatening…
Impaired activity of the adrenal glands, a condition called Addison’s disease, may be the only typical manifestation of autoimmune polyglandular syndrome type 1 (APS1) to have occurred decades after diagnosis, a case report suggests. APS1, a rare inherited autoimmune disorder, is typically characterized by at least two of three manifestations:…
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