Articles related to RARE CONDITIONS & DISEASES

A quartet of current clinical trials involving first-in-class molecules and CRISPR gene editing show great promise. STELLAR investigates a fusion protein in PAH, CodeBreak 200 studies a first-in-class of KRAS inhibitor, EMERGENT-2 focuses on a new treatment for schizophrenia, and NCT04601051 studies a gene editing drug for one form of amyloidosis.

HBCLs, not-otherwise specified (NOS), are rare and heterogeneous; other than having germinal center B-cell phenotype, and in up to 45%, a single-hit MYC rearrangement, they have no unifying immunophenotypic or cytogenetic characteristics. This review discusses the current clinicopathologic concept of HGBL, NOS, and looks at potential future taxonomy enrichments based on emerging molecular diagnostics.

Memorial Sloan Kettering oncologist Raajit Rampal presents a case report, discusses the rationale for the few treatment options available, and summarizes the 5-year follow-up data for the RESPONSE and RESPONSE 2 trials.

Physicians commonly encounter patients with facial pigmented macules. In this patient, the diagnosis was Carney complex.

A clinical picture of the spontaneous pneumothorax, which is considered spontaneous if there is no apparent precipitating cause and can be easily missed on a chest radiograph unless there is a strong index of clinical suspicion. This article discusses risk factors, diagnosis, and treatment for the condition.

Dr. Lucinda A. Harris, an associate professor of medicine at the Mayo Clinic Alix School of Medicine in Scottsdale, AZ, offers her evidence-based approach to diagnosing and treating these five rare GI diseases: Non-celiac gluten sensitivity Eosinophilic esophagitis Postural orthostatic tachycardia syndrome (POTS) Ehlers-Danlos syndrome Mast cell activation syndrome