Results 91 to 100 of about 370,897 (400)

Adverse social determinats and risk for congenital anomalies [PDF]

, 2014
INTRODUCCIÓN: Diferentes trabajos han relacionando condiciones sociales adversas a nivel familiar y regional con resultados perinatales (mortalidad neonatal, bajo peso y prematuridad); sin embargo, pocos estudiaron el efecto de la pobreza sobre anomalías
Campaña, Hebe, Comas, Belén, Gili, Juan Antonio, Gimenez, Lucas Gabriel, López Camelo, Jorge Santiago, Pawluk, Mariela Soledad, Poletta, Fernando Adrián, Scala, Sandra C., Villalba, María Inés   +8 more
core   +3 more sources

Maternal folic acid supplementation and dietary folate intake and congenital heart defects

PLoS ONE, 2017
Background It has been reported that folic acid supplementation before and/or during pregnancy could reduce the risk of congenital heart defects (CHDs). However, the results from limited epidemiologic studies have been inconclusive.
B. Mao, J. Qiu, N. Zhao, Y. Shao, W. Dai, Xiaochun He, H. Cui, Xiaojuan Lin, Ling Lv, Zhongfeng Tang, Sijuan Xu, Huang Huang, Min Zhou, Xiaoying Xu, W. Qiu, Qing Liu, Yawei Zhang   +16 more
semanticscholar   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Le Cœur en Sabot: shape associations with adverse events in repaired tetralogy of Fallot

Journal of Cardiovascular Magnetic Resonance, 2022
Background Maladaptive remodelling mechanisms occur in patients with repaired tetralogy of Fallot (rToF) resulting in a cycle of metabolic and structural changes.
Anna Mîra, Pablo Lamata, Kuberan Pushparajah, Georgina Abraham, Charlène A. Mauger, Andrew D. McCulloch, Jeffrey H. Omens, Malenka M. Bissell, Zach Blair, Tyler Huffaker, Animesh Tandon, Sandy Engelhardt, Sven Koehler, Thomas Pickardt, Philipp Beerbaum, Samir Sarikouch, Heiner Latus, Gerald Greil, Alistair A. Young, Tarique Hussain   +19 more
doaj   +1 more source

Procollagen IIA Deficient Mice [PDF]

, 2010
This invention relates to the production of dual models of Congenital Heart Defects and Hypertrophic Cardiomyopathy with the use of mice which are genetically modified by transgenic (gene-knockout) techniques. The present invention produces knockout mice

core  

A role for Gle1, a regulator of DEAD-box RNA helicases, at centrosomes and basal bodies. [PDF]

, 2017
Control of organellar assembly and function is critical to eukaryotic homeostasis and survival. Gle1 is a highly conserved regulator of RNA-dependent DEAD-box ATPase proteins, with critical roles in both mRNA export and translation.
Akef, Abdalla, Jao, Li-En, Wente, Susan R   +2 more
core   +1 more source

Sociodemographic Factors and Survival of Infants With Congenital Heart Defects

Pediatrics, 2018
Using birth defects surveillance data linked to census and vital records, we examine sociodemographic differences in first-year survival among infants with CHDs.
Nelson D Pace, M. Oster, Nina E Forestieri, Dianne Enright, Jessica H Knight, R. Meyer   +5 more
semanticscholar   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Percutaneous pulmonary valve implantation in a patient with congenitally corrected transposition of the great arteries: a case report

Journal of Medical Case Reports
Background Percutaneous pulmonary valve implantation has become an attractive method of dysfunctional right ventricle outflow tract treatment. Case presentation We describe a unique case of a 20-year-old Caucasian male patient with a complex cyanotic ...
Michal Kapalka, Michal Galeczka, Michal Krawiec, Roland Fiszer   +3 more
doaj   +1 more source

Prenatal diagnosis and treatment planning of congenital heart defects—possibilities and limits [PDF]

, 2018
Background: Newborns with hypoplastic left heart syndrome (HLHS) or right heart syndrome or other malformations with a single ventricle physiology and associated hypoplasia of the great arteries continue to be a challenge in terms of survival.
Carrel, Thierry, Meyer-Wittkopf, Matthias, Nelle, Mathias, Pavlovic, Mladen, Raio, Luigi, Surbek, Daniel   +5 more
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