Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.

MYCN, a member of the MYC proto-oncogene family, regulates cell growth and proliferation. Somatic mutations of MYCN are identified in various tumors, and germline loss-of-function variants are responsible for Feingold syndrome, characterized by microcephaly. In contrast, one megalencephalic patient with a gain-of-function variant in MYCN, p.

Intravascular Lithotripsy for Vessel Preparation in Calcified Coronary Arteries Prior to Stent Placement - Japanese Disrupt CAD IV Study 1-Year Results.

Intravascular lithotripsy (IVL) delivers acoustic pressure waves to modify calcium, enhance vessel compliance, and optimize stent deployment. The Disrupt CAD IV study enrolled patients with severe coronary artery calcification and demonstrated low 30-day major adverse cardiovascular events (MACE) and high procedural success following IVL with no final serious angiographic complications. To date, long-term outcomes have not been reported.

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.

Purpose: The Retriever subunit is the third responsible gene for Ritscher-Schinzel syndrome (RSS) after and . To date, only one pair of siblings have been reported and their condition was significantly more severe than typical RSS. This study aimed to understand the clinical spectrum and underlying molecular mechanism in VPS35L-associated RSS.