Results 61 to 70 of about 391,145 (293)

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Analysis of desmoplakin in arrythmogenic right ventricular cardiomyopathy [PDF]

, 2010
Includes bibliographical references (leaves 71-79).It has been shown that all forms of cardiomyopathy, including the dilated, hypertrophic, restrictive, and right ventricular arrhythmogenic forms, are found in African populations.
Fish, Maryam
core   +1 more source

Ventricular interdependence in critically ill patients: from physiology to bedside

Frontiers in Physiology, 2023
The review focuses on the mechanism of ventricular interdependence, a frequently encountered phenomena, especially in critically ill patients. It is explained by the anatomy of the heart, with two ventricles sharing a common wall, the septum, and nested ...
Matthieu Petit, Matthieu Petit, Antoine Vieillard-Baron, Antoine Vieillard-Baron   +3 more
doaj   +1 more source

Pulmonary Atresia with Intact Ventricular Septum Causing Severe Left Ventricular Outflow Tract Obstruction [PDF]

, 2009
We describe an infant with pulmonary atresia with intact ventricular septum (PAIVS) and severe left ventricular outflow tract (LVOT) obstruction secondary to a suprasystemic right ventricle causing leftward displacement of the interventricular septum ...
Levi, Daniel S., Hillel Laks, Amin, Payal, Payal Amin, Likes, Maggie, Daniel S. Levi, Maggie Likes, Laks, Hillel   +7 more
core   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Successful Correction of Postinfarction Interventricular Septum Rupture Diagnosed Online During the COVID-19 Pandemic (Clinical Case)

Brazilian Journal of Cardiovascular Surgery, 2022
Postinfarction interventricular septum defect is a rare, but very serious and sometimes fatal, complication of acute myocardial infarction. This article describes a clinical case of online diagnosis of a late-stage myocardial infarction and the ...
Nazgul Asylbekovna Seitmaganbetova, Khibina Mirshat, Veklenko Viktorovna Galina, Tleumagambetova Bibolatovna Bibigul, Aliyev Mynbayevich Ondasyn, Rakhmatullina Nikolayevna Tolkynai, Biyasilov Nurzhan, Zhaubatyrova Aigul, Kurmasheva Gulnara   +8 more
doaj   +1 more source

Acquired ventricular septal aneurysm in a patient with pulmonary atresia with intact ventricular septum

, 2011
Myocardial ischaemia and infarction in pulmonary atresia and intact ventricular septum with right ventricular-dependent coronary circulation is a well-established complication.
Matthew Harris, Paul Farrell, Akash R. Patel, Matthew J. Gillespie, J. William Gaynor   +4 more
core   +1 more source

Biomarkers of ventricular remodelling in African hypertensives. [PDF]

, 2013
Includes abstract.Includes bibliographical references.There is substantial evidence that the burden of hypertension, hypertension with left ventricular hypertrophy and hypertensive heart failure is very enormous in sub-Saharan Africa.
Dike, Ojji
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 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