Articles related to RARE DISEASES

Giant cell arteritis (GCA) is one of the most dangerous rheumatologic conditions, and mortality rates among patients with the condition in Canada’s Ontario province has researchers very concerned without any explanation for the recent increases in mortality they documented. MedPage Today shares the report from Arthritis Care & Research.

The 28-year-old Canadian pop star recently put the condition into the limelight after showing his face to his millions of Instagram followers. Ramsay Hunt Syndrome is caused by the varicella-zoster virus – the virus that causes chickenpox – but here’s more on the condition that plagues 5 in 100,000 people every year.

This report includes 3-year follow-up of the pivotal ZUMA-2 study of KTE-X19 in relapsed/refractory MCL. At a median follow-up of 35.6 months, the objective response rate among all 68 treated patients was 91%, with 68% complete responses. Medians for duration of response, progression-free survival, and overall survival were 28.2 months, 25.8 months, and 46.6 months, respectively. “These data, representing the longest follow-up of CAR T-cell therapy in patients with MCL to date, suggest that KTE-X19 induced durable long-term responses with manageable safety in patients with relapsed/refractory MCL and may also benefit those with high-risk characteristics.”

Monkeypox is again spreading around the world, from Europe to North America. This is the first outbreak in US the since 2003 and the disease is now spreading fairly rapidly on a daily basis. Transmission between people mostly occurs through large respiratory droplets, normally meaning prolonged contact face to face. But the virus can also spread through bodily fluids. The latest cases have mainly been among men who have sex with men. Currently, the UK has the largest number of diagnosed cases, followed by Portugal, Canada, and Spain. Latest case counts by country can be seen here.

The finding of a soft tissue mass on the trunk or limbs can be the source of anxiety and distress for patients, and a diagnostic challenge for physicians. In most cases the masses are benign. But when the mass is soft tissue sarcoma, the benefit of skilled early detection by the astute primary care clinician is enormous.

An interesting case study in BRASH (bradycardia, renal failure, atrioventricular blockade, shock, and hyperkalemia) syndrome highlights Rare Disease Day, which took place on 2/28/22. After reviewing the patient’s history and symptoms, would you agree on the diagnosis?