Results 31 to 40 of about 16,514 (185)

Pleural and mediastinal effusions after the extracardiac total cavopulmonary connection: Risk factors and impact on outcome

Frontiers in Cardiovascular Medicine, 2022
BackgroundThis study investigated the volume and duration of pleural and mediastinal effusions following extracardiac total cavopulmonary connection, as well as preoperative risk factors and their impact on outcome.Materials and methodsA total of 210 ...
Paul Philipp Heinisch, Paul Philipp Heinisch, Paul Metz, Paul Metz, Helena Staehler, Helena Staehler, Benedikt Mayr, Janez Vodiskar, Janez Vodiskar, Martina Strbad, Martina Strbad, Bettina Ruf, Peter Ewert, Alfred Hager, Jürgen Hörer, Jürgen Hörer, Masamichi Ono, Masamichi Ono   +17 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Hypoplastic left heart syndrome secondary to intrauterine rhabdomyoma necessitating single ventricle palliation

Annals of Pediatric Cardiology, 2014
Rhabdomyoma, a benign hamartomatous tumor of the cardiac embryonic myocyte, is the most common intrauterine cardiac tumor and accounts for 0.12% of prenatal fetal studies.
Arshid Mir, Catherine Minor Ikemba, Surendranath R Veeram Reddy   +2 more
doaj   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Hypoplastic Left Heart Syndrome Is Heritable

Journal of the American College of Cardiology, 2007
This study sought to determine the size of the genetic effect (heritability) in families identified by a hypoplastic left heart syndrome (HLHS) proband.Hypoplastic left heart syndrome is a severe form of cardiovascular malformation (CVM), and it remains a leading cause of infant mortality and childhood morbidity.
Hinton, Robert B., Martin, Lisa J., Tabangin, Meredith E., Mazwi, Mjaye L., Cripe, Linda H., Benson, D. Woodrow   +5 more
openaire   +2 more sources

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Facilitating the timely diagnosis of Lennox–Gastaut syndrome: A checklist to support clinical practice

Epileptic Disorders, EarlyView.
Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio, Alexis Arzimanoglou, Stéphane Auvin, Antonio Gil‐Nagel, Lieven Lagae, Rima Nabbout, Susanne Schubert‐Bast, Adam Strzelczyk, Eugen Trinka, J. Helen Cross   +9 more
wiley   +1 more source

Hypoplastic left heart syndrome with coronary-cameral fistulas: Echocardiographic demonstration of coronary artery steal and successful interventional treatment

Annals of Pediatric Cardiology, 2017
We report a case of a patient with hypoplastic left heart syndrome with significant coronary-cameral fistulas and exertional symptoms from coronary steal. Symptoms resolved following successful coil occlusion of his left ventricle.
Arshid Mir, Mary Niu, Merick Yamada, Ed Overholt   +3 more
doaj   +1 more source