Results 11 to 20 of about 1,020 (91)
British Journal of Clinical Pharmacology, EarlyView.Abstract Aim Sirolimus is currently used off‐label for paediatric patients with vascular anomalies. However, the optimal dosage regimen for paediatric patients remains controversial. This study aimed to determine the optimal dosing regimen of sirolimus in these patients using a population pharmacokinetic (PK) model.
Seongmee Jeong +13 more
wiley +1 more source
ESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li +12 more
wiley +1 more source
The regulation of stem cell fate and its application in neural regeneration
Interdisciplinary Medicine, EarlyView.Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He +3 more
wiley +1 more source
Journal of Medical Radiation Sciences, EarlyView.Health consumer complaints to the New Zealand Health and Disability Commissioner involving sonographers are rare, totalling 15 in the last 31 years and averaging 1.5 cases per year over the last decade. A large proportion of complaints involve an undetected finding, obstetric examination and private setting.
Martin Necas +5 more
wiley +1 more source
BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo +8 more
wiley +1 more source
When to consider an inborn error of immunity: clues for physicians
Internal Medicine Journal, EarlyView.Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies
Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang +7 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.ABSTRACTBile acid Coenzyme A: amino acid N‐acyltransferase (BAAT) catalyzes the conjugation of bile acids with taurine or glycine, a process essential for bile acid solubility and intestinal lipid absorption. Mutations in BAAT cause an inborn error of bile acid metabolism, typically characterized by reduced conjugated bile acids and fat‐soluble vitamin
Soma Koga +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1832-1841, August 2026.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source