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"Heart defect"

Breanna L Alman, Evan Coffman, Anna Maria Siega-Riz, Thomas J Luben
BACKGROUND: Water and water-based beverages constitute a major part of daily fluid intake for pregnant women, yet few epidemiologic studies have investigated the role of water consumption on birth outcomes. METHODS: We used data from the National Birth Defects Prevention Study to conduct a case-control study investigating associations between maternal water consumption during pregnancy and birth defects (BD). We used interview data on water consumption during the first trimester of pregnancy in 14,454 cases (major BDs n ≥ 50) and 5,063 controls...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Wasay M Shaikh Qureshi, Lianjie Miao, David Shieh, Jingjing Li, Yangyang Lu, Saiyang Hu, Margarida Barroso, Joseph Mazurkiewicz, Mingfu Wu
Single clonal tracing and analysis at the whole-heart level can determine cardiac progenitor cell behavior and differentiation during cardiac development, and allow for the study of the cellular and molecular basis of normal and abnormal cardiac morphogenesis. Recent emerging technologies of retrospective single clonal analyses make the study of cardiac morphogenesis at single cell resolution feasible. However, tissue opacity and light scattering of the heart as imaging depth is increased hinder whole-heart imaging at single cell resolution...
October 7, 2016: Journal of Visualized Experiments: JoVE
Elizabeth J Bhoj, Zhenming Yu, Qiaoning Guan, Rebecca Ahrens-Nicklas, Kajia Cao, Minjie Luo, Tanya Tischler, Matthew A Deardorff, Elaine Zackai, Avni B Santani
INTRODUCTION: RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing (NGS)-based panels have widespread acceptance as a diagnostic tool for RASopathies. MATERIALS AND METHODS: The first 126 patients evaluated by clinical examination and the NGS RASopathy panel at the Children's Hospital of Philadelphia were enrolled. We calculated diagnosis rate, correlated reported clinical findings with positive or negative test results, and identified final molecular diagnoses in 28/96 patients who tested negative for RASopathies...
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Xiaojing Qiao, Yahui Liu, Peiqiang Li, Zhongzhong Chen, Huili Li, Xueyan Yang, Richard H Finnell, Zhangmin Yang, Ting Zhang, Bin Qiao, Yufang Zheng, Hongyan Wang
The planar cell polarity (PCP) pathway is critical for proper embryonic development of the neural tube and heart. Mutations in these genes have previously been implicated in the pathogenesis of neural tube defects (NTDs), but not in congenital heart defects (CHDs) in humans. We systematically identified the mutation patterns of CELSR1-3 , one family of the core PCP genes, in human cohorts composed of 352 NTD cases, 412 CHD cases, and matched controls. A total of 72 disease-specific rare novel coding mutations were identified, of which 37 were identified in CHD cases, and 36 were identified in NTD patients...
October 18, 2016: Clinical Science (1979-)
Fabio de Araujo Motta, Libera Maria Dalla-Costa, Marisol Dominguez Muro, Andrea Lenzi, Gledson Luiz Picharski, Marion Burger
BACKGROUND: Candida species are the primary cause of invasive fungal infection in hospitalized children. There are few data on risk factors for postoperative candidemia in pediatric patients with congenital heart defects. This study aimed to identify risk factors for candidemia in patients with congenital heart defects who underwent cardiac surgery. METHODS: This was a case-control study conducted in patients admitted to a pediatric cardiology intensive care unit from January 2006 to December 2013...
November 2016: Pediatric Infectious Disease Journal
Bin Zhang, Jinzhu Zhao, Rong Yang, Zhengmin Qian, Shengwen Liang, Bryan A Bassig, Yiming Zhang, Ke Hu, Shunqing Xu, Guanghui Dong, Tongzhang Zheng, Shaoping Yang
The objective of this study was to evaluate whether high levels of maternal exposure to O3, SO2, NO2, CO are related to increased risk of congenital heart defects (CHDs) in Wuhan, China. The study included mothers living in the central districts of Wuhan during pregnancy over the two-year period from June 10, 2011 to June 9, 2013. For each study participant, we assigned 1-month averages of O3, SO2, NO2 and CO exposure based on measurements obtained from the nearest exposure monitor to the living residence of mothers during their early pregnancy period...
October 18, 2016: Scientific Reports
Keiko Shimojima, Yumiko Ondo, Mayumi Matsufuji, Nozomi Sano, Hisashi Tsuru, Tatsuki Oyoshi, Nayuta Higa, Hiroshi Tokimura, Kazunori Arita, Toshiyuki Yamamoto
A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome. Reports of patients with overlapping 19p13.3 microdeletions of this region describe similar clinical manifestations including distinctive facial features: prominent forehead, horizontal/down-slanting palpebral fissures, long midface, pointed chin/angular jaw, sparse eyebrows, and underdeveloped cheekbones...
October 14, 2016: European Journal of Medical Genetics
Afsin A Kundak, Ayhan Pektas, Aysegul Zenciroglu, Semra Ozdemir, Umit B Barutcu, Utku A Orun, Nurullah Okumus
OBJECTIVE: The aim of the present study was to determine the role of toxic elements and trace elements in the pathogenesis of conotruncal heart defects by measuring their concentrations in the first meconium specimens of the affected newborns. METHODS: Concentrations of lead, cadmium, iron, zinc, and copper were measured in 1st-day meconium specimens that were collected from 60 newborns with conotruncal heart defects (Group I) and 72 healthy newborns (Group II)...
October 18, 2016: Cardiology in the Young
Ana L Neves, Tiago Henriques-Coelho, Adelino Leite-Moreira, José C Areias
OBJECTIVE: The aim of this article is to evaluate the clinical utility of brain natriuretic peptide in pediatric patients, examining the diagnostic value, management, and prognostic relevance, by critical assessment of the literature. DATA SOURCES: In December 2015, a literature search was performed (PubMed access to MEDLINE citations; and included these Medical Subject Headings and text terms for the key words: "brain natriuretic peptide," "amino-terminal pro-brain natriuretic peptide," "children," "neonate/s," "newborn/s," "infant/s," and "echocardiography...
September 30, 2016: Pediatric Critical Care Medicine
(no author information available yet)
No abstract text is available yet for this article.
November 2016: American Journal of Medical Genetics. Part A
Aabid Hussain Mir, Zulfiqar Ali, Bashir Ahmad Dar, Imtiaz A Naqash, Samreena Bashir
Congenital heart defects are associated with various physiological disturbances. They pose anesthetic challenges for both cardiac and noncardiac surgeries. Atrioventricular septal defects are due to a developmental failure in the separation of atria and the ventricles into separate chambers and failure in the separation of mitral and tricuspid valves. We present a case of a child (1½ years), weighing 10 kg, diagnosed as congenital hydrocephalus who was planned for ventriculoperitoneal shunt. Child was having an oxygen saturation of 76% on room air...
September 2016: Anesthesia, Essays and Researches
Niels B Matthiesen, Tine Henriksen, Peter Agergaard, William J Gaynor, Cathrine C Bach, Vibeke Hjortdal, John Ostergaard
BACKGROUND: -Congenital heart defects (CHD) have been associated with placental anomalies. The nature and the consequences of this association remain poorly understood. We aimed to estimate the associations between all major subtypes of CHD and placental weight at birth as well as the association between placental weight and measures of both overall and cerebral growth in fetuses with CHD. METHODS: -We included all 924,422 liveborn Danish singletons, 1997-2011. CHD was present in 7,569...
October 14, 2016: Circulation
Elisabeth Leirgul, Kristoffer Brodwall, Gottfried Greve, Stein E Vollset, Henrik Holmstrøm, Grethe S Tell, Nina Øyen
OBJECTIVE: To investigate the association between pregestational or gestational diabetes and offspring risk of congenital heart defects and the association between large-for-gestational-age birth weight and risk of cardiac defects in offspring of diabetic women. METHODS: Information on pregestational and gestational diabetes, cardiac defects, and birth weight among all births in Norway in 1994-2009 was ascertained from the Medical Birth Registry of Norway, national health registries, and the Cardiovascular Disease in Norway project...
October 6, 2016: Obstetrics and Gynecology
Anu K Kaskinen, Laura Martelius, Turkka Kirjavainen, Paula Rautiainen, Sture Andersson, Olli M Pitkänen
BACKGROUND: Lung ultrasounds show vertical artifacts known as B-lines in the presence of increased extravascular lung water (EVLW). We aimed to investigate whether lung ultrasound could estimate EVLW after congenital cardiac surgery. METHODS: This prospective observational study comprised 61 children (age range 3 days to 7.4 years) undergoing congenital cardiac surgery. We compared postoperative B-line scores from lung ultrasounds, early postoperative ultrasound as our primary interest, with corresponding postoperative chest radiography (CXR) lung edema scores, with static lung compliance, and with short-term clinical outcome interpreted as time on mechanical ventilation and length of pediatric intensive care unit (PICU) stay...
October 14, 2016: Pediatric Pulmonology
Ramesh Kawar, Deepak Kumar Mishra, Shalima Gautam, B K Goyal
In the current era where percutaneous coronary interventions are increasingly performed day by day can device closure of congenital heart defects be far behind. We describe one unusual case of ventricular septal defect (VSD) in a child with absent inferior vena cava which was tackled in a novel way using hemiazygous vein as the conduit (access) to the right side of heart.
June 2016: Journal of the Association of Physicians of India
Melissa Borelli, Rebecca J Baer, Christina D Chambers, Tyler C Smith, Laura L Jelliffe-Pawlowski
We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements...
October 14, 2016: American Journal of Medical Genetics. Part A
Alessandro Giamberti, Francesca R Pluchinotta, Massimo Chessa, Alessandro Varrica, Raffaele Vitale, Alessandro Frigiola, Carlo Pappone, Marco Ranucci
AIMS: Supraventricular arrhythmias are a major cause of morbidity and mortality in adult patients with congenital heart disease (CHD). Intraoperative ablation offers an alternative for patients who failed ablation procedures or are requiring concomitant surgical intervention. We present our long-term results with the surgical treatment of arrhythmias in adults with CHD (ACHD) undergoing elective cardiac surgery and the clinical predictors for arrhythmia recurrence. METHODS AND RESULTS: Between 2002 and 2013, 80 consecutive patients with CHD, mean age of 39 years, underwent intraoperative ablation with monopolar irrigated radiofrequency during cardiac surgery procedures...
October 12, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Valdester Cavalcante Pinto, Rodrigo Cardoso Cavalcante, Klébia Magalhães P Castello Branco, Candice Torres de Melo Bezerra Cavalcante, Isabel Cristina Leite Maia, Nayana Maria Gomes de Souza, Kiarelle Lourenço Penaforte, Juan Alberto Cosquillo Mejia, Waldemiro Carvalho
The perspective of the integrated health system has a network of care with multiple integration dimensions among subsystems as nuclear representation, relating the clinical aspects and governance to the representations and collective values. The normative integration aims to ensure coherence between the system of representations and values of society simultaneously with the interfaces of clinical and functional integration. It builds a bridge with governance, which allows, through their skills, management of all system components, encouraging cooperation, communication and information, in order to ensure the population under their responsibility to access excellence services, exceeding their expectations...
May 2016: Brazilian Journal of Cardiovascular Surgery
Candice Torres de Melo Bezerra Cavalcante, Nayana Maria Gomes de Souza, Valdester Cavalcante Pinto, Klébia Magalhães Pereira Castello Branco, Ronald Guedes Pompeu, Andreia Consuelo de Oliveira Teles, Rodrigo Cardoso Cavalcante, Giselle Viana de Andrade
Introduction: Risk Adjustment for Congenital Heart Surgery 1 (RACHS-1) score is a simple model that can be easily applied and has been widely used for mortality comparison among pediatric cardiovascular services. It is based on the categorization of several surgical palliative or corrective procedures, which have similar mortality in the treatment of congenital heart disease. Objective: To analyze the in-hospital mortality in pediatric patients (<18 years) submitted to cardiac surgery for congenital heart disease based on RACHS-1 score, during a 12-year period...
May 2016: Brazilian Journal of Cardiovascular Surgery
Utpal S Bhalala, Elumalai Appachi, Muhammad Ali Mumtaz
Many known risk factors for adverse cardiovascular and neurological outcomes in children with congenital heart defects (CHD) are not modifiable; however, the temperature and blood flow during cardiopulmonary bypass (CPB), are two risk factors, which may be altered in an attempt to improve long-term neurological outcomes. Deep hypothermic circulatory arrest, traditionally used for aortic arch repair, has been associated with short-term and long-term neurologic sequelae. Therefore, there is a rising interest in using moderate hypothermia with selective antegrade cerebral blood flow on CPB during aortic arch repair...
2016: Frontiers in Pediatrics
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