News

Using Jakafi (ruxolitinib) to treat a woman with polycythemia vera (PV; a blood cancer) led to complete resolution of her cutaneous sarcoidosis, and to mild reduction of her lung nodules, according to a case report. The findings suggest a new therapeutic strategy, especially for patients with cutaneous sarcoidosis,…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

A new report describes a woman with a very rare case of sarcoidosis involving only the spine who entered full remission after surgical removal of the lesion followed by treatment with corticosteroids. Based on this case report, researchers advised that cases of spinal sarcoidosis should be managed by…

According to a new study comparing older and younger sarcoidosis patients, elderly people with sarcoidosis tend to have more severe disease and worse clinical outcomes. The study, “Elderly sarcoidosis: A comparative study from a 42-year single-centre experience,” was published in the journal Respiratory Medicine.  Sarcoidosis usually presents…

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…

Alterations in the blood cell count of people with sarcoidosis might indicate that the disease has invaded the bone marrow, a case report suggests. Doctors should therefore consider this clinical sign to aid in early diagnosis and avoid further complications. The study, “Bone marrow involvement in sarcoidosis:…

Work-related hazards account for nearly 1 in 3 cases of sarcoidosis, and for at least 1 in 10 cases of other respiratory diseases, including asthma, chronic obstructive pulmonary disease (COPD), and bronchitis, a new analysis suggests. The analyss, “The Occupational Burden of Nonmalignant Respiratory Diseases. An…

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…

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…