THURSDAY, Oct. 1, 2020 — Genetic problems cause about 14% of cerebral palsy cases, and many of the implicated genes control the wiring of brain circuits during early fetal development, new research shows. The largest genetic study of cerebral palsy supports previous findings and provides “the strongest evidence to date that a significant portion of… Read More »
Aliefendioğlu D, Tana Aslan Ay, Coşkun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two case reports and literature review. Pediatr Neurol. 2003 Feb;28(2):151-5. Review. Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update. J Inherit Metab Dis. 2004;27(3):417-22. Review. Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): comments and… Read More »
Astellas and Seattle Genetics impressed Wall Street last fall when their combination of Padcev and Merck’s Keytruda fought off advanced bladder cancer in previously untreated patients. Friday, the partners presented updated results that look even better. They might even be good enough to snag an expedited regulatory review, analysts say—and at least one market-watcher hiked… Read More »
Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This type of receptor binds to particles called (LDLs), which are the primary carriers of cholesterol… Read More »
Orthostatic hypotension is a drop in blood pressure that occurs when moving from a laying down (supine) position to a standing (upright) position. The word “orthostasis” means to stand up, so the condition is defined as low blood pressure (hypotension) that occurs upon standing. When standing up, gravity moves blood from the upper body to… Read More »
Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 Jun;176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25. Murdock DR, Jiang Y, Wangler M, Khayat MM,… Read More »