Articles related to RARE DISEASES

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?

CheckRare provides a list of the orphaned drugs that dominate the US pharmaceutical industry to start 2022. Orphan drugs are defined as those medications that remain commercially undeveloped because they’ve been deemed to have limited potential for profitability. However, nearly half of all novel medications approved by the FDA are orphan drugs.

DLBCL is increasingly being recognized as a heterogeneous disease with distinct molecular subtypes. This has challenged the rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) treatment paradigm in recent years, as several DLBCL subtypes have inferior survival after standard R-CHOP therapy. So how do you choose? In this review the authors conclude with proposed clinical management scenarios in which DA-R-EPOCH may be preferred, including some for patient populations in which the use of R-CHOP vs. DA-R-EPOCH is controversial.

ReachMD offers this CME/video case study on Duchenne Muscular Dystrophy (DMD), new genetic understandings, MET inhibitor use, and presentation with extra muscular manifestations. The program also highlights the challenges healthcare professionals face when it comes to diagnosing this complex condition.

Can you differentiate between bradykinin-mediated angioedema and the more common histamine-mediated angioedema? How significant is a delayed diagnosis? Do you favor on-demand or preventative therapy? What is the recommended therapy? Access to specialist care and effective treatment in the past 10 years has improved the quality of life and reduced the mortality rate in patients with hereditary angioedema. This wide-ranging report from the British Journal of Hospital Medicine covers emerging treatments and outlines where we’ve been, where we are, and where we’re going in hereditary angioedema (HAE) care.