Results 71 to 80 of about 59,480 (283)

Tricuspid Valve Hemangioma Associated with Hypoplastic Left Heart Syndrome Presenting as Sudden Infant Death Syndrome

Türk Patoloji Dergisi, 2019
Primary cardiac tumors are rare in children with a low incidence varying from 0.0017 to 0.28% in autopsy studies. Approximately 90% of the reported primary cardiac tumors in the pediatric population are benign and the most common subtype is rhabdomyomas ...
Brijnandan GUPTA, Shouriyo GHOSH, Maikal KUJUR, Khushbu KHETAN, Tarun KUMAR   +4 more
doaj   +1 more source

Reliability of Early Fetal Echocardiography for Congenital Heart Disease Detection: A Preliminary Experience and Outcome Analysis of 102 Fetuses to Demonstrate the Value of a Clinical Flow-Chart Designed for At-Risk Pregnancy Management [PDF]

, 2016
Early fetal echocardiography (EFEC) is a fetal cardiac ultrasound analysis performed between the 12th and 16th week of pregnancy (compared with the usual 18-22 weeks).
Abed, M.m., CAIARO, ANGELA, CECCACCI, IRENE, Celani, S., COLLORIDI, Fiorenza, GIANCOTTI, Antonella, Messina, E., VENTRIGLIA, Flavia, Vitiello, L.   +8 more
core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Socioeconomic Mediators of Racial and Ethnic Disparities in Congenital Heart Disease Outcomes: A Population-Based Study in California. [PDF]

, 2018
Background Racial/ethnic and socioeconomic disparities exist in outcomes for children with congenital heart disease. We sought to determine the influence of race/ethnicity and mediating socioeconomic factors on 1-year outcomes for live-born infants with ...
Baer, Rebecca J, Chambers, Christina D, Jelliffe-Pawlowski, Laura L, Moon-Grady, Anita J, Norton, Mary E, Oltman, Scott P, Peyvandi, Shabnam, Rajagopal, Satish, Ryckman, Kelli K, Steurer, Martina A   +9 more
core  

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

Impact of \u3cem\u3eMYH6\u3c/em\u3e Variants in Hypoplastic Left Heart Syndrome [PDF]

, 2016
Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown.
Benson, D. Woodrow, Goetsch, Mary A., Hidestrand, Mats, Hidestrand, Pip M., Kim, Min-Su, Liang, Huan-Ling, Lough, John, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Tomita-Mitchell, Aoy, Tweddell, James S.   +13 more
core   +2 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +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

A novel adjustable pulmonary artery banding system for hypoplastic left heart syndrome [PDF]

, 2007
OBJECTIVE: Hypoplastic left heart syndrome remains a challenge for worldwide surgeons. Initial palliation employing bilateral pulmonary artery banding along with ductal stent implantation and atrial septostomy has been proposed as an alternative approach.
Assadi, Renato Samy, Barbero-marcial, Miguel, Guerra, Vitor Coimbra, Miana, Leonardo Augusto, Pedra, Carlos Augusto Cardoso, Silva, Maria Fernanda, Thomaz, Petrônio Generoso, Zamith, Marina Maccagnano [UNIFESP]   +7 more
core   +3 more sources

Anti‐Obesity Pharmacotherapy and Emerging Multimodal Interventions for Obstructive Sleep Apnea

Chronic Diseases and Translational Medicine, EarlyView.
Cellular and molecular mechanisms of obesity‐related obstructive sleep apnea (OSA). ADMA: asymmetric dimethyrarginine, NLRP3: nucleotide‐binding domain, leucine‐rich repeat family, Pyrin domain containing 3, TLR: toll‐like receptors, IL‐1β: interleukin‐1β, IL‐6: interleukin‐6; LPS: lipopolysacharide, ROS: reactive oxygen species, TNF‐α.
Anish Preshy, Cornelius J. Fernandez, Mohammad Hamid Nedai, Joseph M. Pappachan   +3 more
wiley   +1 more source