Results 131 to 140 of about 3,188,649 (300)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Pulmonary embolism: impact of right ventricular dysfunction

, 2005
Purpose of review The appropriate treatment of patients with acute pulmonary embolism who present with right ventricular dysfunction but normal arterial blood pressure, and particularly the potential benefits of thrombolytic treatment in this setting ...
Konstantinides, Stavros V.
core   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +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

Right ventricular dysfunction in structural tricuspid interventions

European Heart Journal - Imaging Methods and Practice
Abstract With the growing global adoption of transcatheter tricuspid valve intervention (TTVI) and the increasing number of available devices, a comprehensive understanding of right heart dysfunction has become essential. Right heart dysfunction is frequently observed both before and after TTVI and is associated with adverse clinical ...
Jonathan Lee, Eirini Beneki, Nikolaos Katsanakis, Edoardo Zancanaro, Monica Mukherjee, Edgar Argulian, Julia Grapsa   +6 more
openaire   +3 more sources

Role of Catheter Ablation in Arrhythmogenic Right Ventricular Dysplasia [PDF]

, 2005
Arrhythmogenic right ventricular dysplasia/cardiomyopathy is a disorder characterized by frequent ventricular tachycardia originating from the right ventricle and fibro-fatty replacement of right ventricular myocardium. Though the disorder was originally
Johnson Francis, Francis, Johnson, Guy Fontaine, Fontaine, Guy   +3 more
core  

Role of Cardiac Biomarkers and Tomographic Right Ventricular Dysfunction Findings in the Treatment of Pulmonary Thromboembolism [PDF]

Aim: Deaths from acute pulmonary thromboembolism are caused by right ventricular dysfunction (RVD) and often occur within the first hour. Diagnostic computed tomography-pulmonary angiography (CTPA) is a useful tool for the early and rapid evaluation of ...
Eren Usul, Uğur Kahveci, Zeycan Kübra Cevval, Emrah Arı, Maşide Arı   +4 more
core   +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

The brain in heart failure [PDF]

, 2004
After atrial fibrillation, heart failure is the second most frequent cardiac association of stroke. Deteriorating left ventricular systolic function appears to increase the risk of cardioembolic stroke in heart failure.
Pullicino, Patrick
core   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source