Results 81 to 90 of about 4,409,619 (351)

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy

Frontiers in Genetics
IntroductionThe genetic factors underlying congenital heart disease and heterotaxy (CHD/HTX) are complex, including copy number variants, loss-of-function mutations, and missense variants, many of which can be detected by high-throughput sequencing.
Shaojie Min, Jingwei Sun, Weicheng Chen, Zhiyu Feng, Quannan Zhuang, Yuan Gao, Siyi Lin, Siyu Sun, Yuquan Lu, Shuolin Li, Xueying Tian, Guoying Huang, Guoying Huang, Guoying Huang, Wei Sheng, Wei Sheng, Wei Sheng, Xianghui Huang, Xianghui Huang   +18 more
doaj   +1 more source

Prenatally Diagnosed Isolated Coronary Arterial Fistula Leading to Severe Complications at Birth

Case Reports in Cardiology, 2018
Prenatal diagnosis of a huge coronary artery fistula between the left coronary artery and the right ventricle was made by Doppler echocardiography at 22 weeks of gestation. Progression of the dilated fistula was monitored throughout pregnancy.
A. Wacker-Gussmann, T. Esser, S. M. Lobmaier, M. O. Vogt, E. Ostermayer, R. Oberhoffer   +5 more
doaj   +1 more source

Type 2 diabetes mellitus induces congenital heart defects in murine embryos by increasing oxidative stress, endoplasmic reticulum stress, and apoptosis

American Journal of Obstetrics and Gynecology, 2016
BACKGROUND Maternal type 1 and 2 diabetes mellitus are strongly associated with high rates of severe structural birth defects, including congenital heart defects. Studies in type 1 diabetic embryopathy animal models have demonstrated that cellular stress-
Yanqing Wu, Deborah Reece, Jianxiang Zhong, Daoyin Dong, W. Shen, C. Harman, Dr. Peixin Yang   +6 more
semanticscholar   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Ethnic and socioeconomic variation in incidence of congenital heart defects

Archives of Disease in Childhood, 2016
Introduction Ethnic differences in the birth prevalence of congenital heart defects (CHDs) have been reported; however, studies of the contemporary UK population are lacking.
R. Knowles, D. Ridout, S. Crowe, C. Bull, J. Wray, J. Tregay, R. Franklin, D. Barron, D. Cunningham, R. Parslow, K. Brown   +10 more
semanticscholar   +1 more source

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer, Marie Obrecht, Charlotte de Maeseneire, Charlotte Damien, Chantal Depondt, Lorenzo Ferlini, Estelle Rikir, Filippo Annoni, Fabio Silvio Taccone, Nicolas Mavroudakis, Benjamin Legros, Nicolas Gaspard   +11 more
wiley   +1 more source

Aortic valve neocuspidization in children: A systematic review and meta-analysisCentral MessagePerspective

JTCVS Open
Background: Aortic valve neocuspidization (AVNeo) has emerged as a reconstructive alternative for children with aortic valve disease who are poor candidates for prosthetic replacement or the Ross procedure.
Andrey Semyashkin, MD, Julia Nesteruk, MD, Lotfi Ben Mime, MD   +2 more
doaj   +1 more source

Features of the structure of heart [PDF]

, 2017
Introduction. Knowledge of century features of a structure of heart of newborns is necessary for diagnostics and treatment of defects of heart, in connection with the high level of birth rate of children with defects of heart.
Moskalenko, E.A.
core  

Wnt Signaling in Neural Crest Ontogenesis and Oncogenesis. [PDF]

, 2019
Neural crest (NC) cells are a temporary population of multipotent stem cells that generate a diverse array of cell types, including craniofacial bone and cartilage, smooth muscle cells, melanocytes, and peripheral neurons and glia during embryonic ...
Hao, Hongyan, Ji, Yu, McMahon, Moira, Reynolds, Kurt, Zhou, Chengji J   +4 more
core   +2 more sources

Regulating Retinoic Acid Availability during Development and Regeneration: The Role of the CYP26 Enzymes. [PDF]

, 2020
This review focuses on the role of the Cytochrome p450 subfamily 26 (CYP26) retinoic acid (RA) degrading enzymes during development and regeneration. Cyp26 enzymes, along with retinoic acid synthesising enzymes, are absolutely required for RA homeostasis
Roberts, C
core   +2 more sources