Results 101 to 110 of about 2,016,730 (252)
DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE
Balkan Journal of Medical Genetics, 2013 A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna.
Shu X., Zou C., Shen Z.
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Equine Veterinary Journal, EarlyView.Abstract Background Gastric outflow obstruction in horses is a rare but challenging condition, often resulting from either congenital anomalies or acquired lesions such as chronic ulceration or pyloric polyps. Conventional surgical bypass procedures, including gastrojejunostomy (GJ) or gastroduodenostomy and less commonly duodenojejunostomy, can ...
Marco Gandini +4 more
wiley +1 more source
FlexMat, EarlyView.In this work, we first examine the limitations of surgical repair and stenting, including migration, granulation, mucus plugging, and infection. We then translate these failures into engineering constraints involving geometry, mechanics, fixation, degradation, junctional stress, and remodeling.
Yiwei Xu +6 more
wiley +1 more source
Style of Coping and its Determinants in Adults with Congenital Heart Disease in a Developing Country
, 2014 Objective The objective of this study is to compare coping strategies between adults with and without congenital heart disease and to scrutinize the associations between different available resources (e.g., social support) and adoption of certain coping ...
Soares, Joaquim J. F., +6 more
core +1 more source
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objectives Improving and maintaining high detection rates for major congenital heart disease (CHD) is a priority for successful prenatal anatomy screening programmes. The primary objective of this study was to evaluate the utility of on‐site multidimensional targeted training in fetal cardiac screening. Methods A prospective study evaluating a
Fiona Cody +6 more
wiley +1 more source
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objective This study aimed to describe maternal and perinatal outcomes among pregnant women with echocardiographically high probability of pulmonary arterial hypertension (PAH) managed at a quaternary center and to compare outcomes between women with and without cardiac complications (CC).
Laura Belmont‐Rojo +6 more
wiley +1 more source
The Role of CHD7 in the Transcriptional Control of Heart Development [PDF]
, 2015 Chromatin remodelling provides a key mechanism for the regulation of gene expression through dynamic alterations in nucleosome occupancy at promoters and enhancers.
Payne, SA
core
Journal of Clinical Laboratory Analysis, EarlyView.Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada +6 more
wiley +1 more source
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]
, 2005 Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie +3 more
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