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Congenital birth defects

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https://www.readbyqxmd.com/read/28534929/teratogens-a-public-health-issue-a-brazilian-overview
#1
Thiago Mazzu-Nascimento, Débora Gusmão Melo, Giorgio Gianini Morbioli, Emanuel Carrilho, Fernanda Sales Luiz Vianna, André Anjos da Silva, Lavinia Schuler-Faccini
Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects. We also present a survey from 2008 to 2013 of Brazilian cases involving congenital anomalies (annual average of 20,205), fetal deaths (annual average of 1,530), infant hospitalizations (annual average of 82,452), number of deaths of hospitalized infants (annual average of 2,175), and the average cost of hospitalizations (annual cost of $7,758)...
May 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28533037/epidemiology-of-live-born-infants-with-nonimmune-hydrops-fetalis-insights-from-a-population-based-dataset
#2
Martina A Steurer, Shabnam Peyvandi, Rebecca J Baer, Tippi MacKenzie, Ben C Li, Mary E Norton, Laura L Jelliffe-Pawlowski, Anita J Moon-Grady
OBJECTIVE: To evaluate the incidence, etiology, and 1-year mortality of nonimmune hydrops fetalis (NIHF) and to identify risk factors for mortality in a contemporary population-based dataset. STUDY DESIGN: The California Office of Statewide Health Planning and Development maintains a database linking maternal and infant hospital discharge, readmissions, and birth and death certificate date from 1 year before to 1 year after birth. We searched the database (2005-2012) for infants with NIHF (identified by the International Classification of Diseases, 9th Revision, Clinical Modification code)...
May 19, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28532280/trends-and-characteristics-of-fetal-and-neonatal-mortality-due-to-congenital-anomalies-colombia-1999-2008
#3
Claudia Patricia Roncancio, Sandra Patricia Misnaza, Isabel Cristina Peña, Franklyn Edwin Prieto, Michael J Cannon, Diana Valencia
OBJECTIVE: To describe fetal and neonatal mortality due to congenital anomalies in Colombia. METHODS: We analyzed all fetal and neonatal deaths due to a congenital anomaly registered with the Colombian vital statistics system during 1999-2008. RESULTS: The registry included 213,293 fetal deaths and 7,216,727 live births. Of the live births, 77,738 (1.08%) resulted in neonatal deaths. Congenital anomalies were responsible for 7321 fetal deaths (3...
May 22, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28530678/the-complex-genetics-of-hypoplastic-left-heart-syndrome
#4
Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha S Bais, George C Gabriel, Zhaohan Chen, Kevin A Peterson, You Li, Molly C Schwartz, William T Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai T Klena, Dennis Kostka, Karen L de Mesy Bentley, Madhavi K Ganapathiraju, Phillip Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William Pu, Simon Watkins, Paul Grossfeld, Stephen A Murray, George A Porter, Michael Tsang, Lisa J Martin, D Woodrow Benson, Bruce J Aronow, Cecilia W Lo
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28520847/maternal-exposure-to-nitrogen-dioxide-intake-of-methyl-nutrients-and-congenital-heart-defects-in-offspring
#5
Jeanette A Stingone, Thomas J Luben, Suzan L Carmichael, Arthur S Aylsworth, Lorenzo D Botto, Adolfo Correa, Suzanne M Gilboa, Peter H Langlois, Wendy N Nembhard, Jennifer Richmond-Bryant, Gary M Shaw, Andrew F Olshan
Nutrients that regulate methylation processes may modify susceptibility to the effects of air pollutants. Data from the National Birth Defects Prevention Study, 1997-2006, were used to estimate associations between maternal exposure to nitrogen dioxide (NO2), dietary intake of methyl nutrients and the odds of congenital heart defects in offspring. NO2 concentrations, a marker of traffic-related air pollution, averaged across post-conception weeks 2-8, were assigned to 6160 non-diabetic mothers of cases and controls using inverse distance-squared weighting of air monitors within 50 km of maternal residence...
May 18, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28516217/prenatal-surgery-for-myelomeningocele-review-of-the-literature-and-future-directions
#6
Gregory G Heuer, Julie S Moldenhauer, N Scott Adzick
Open spina bifida or myelomeningocele (MMC) is one of the most common serious congenital malformations. Historically, this condition has been treated with closure of the MMC defect shortly after birth. The goal of postnatal closure is to cover the exposed spinal cord and prevent infection. However, postnatal surgery does not reverse or prevent the neurologic injury seen in MMC, reverse hindbrain herniation, or prevent hydrocephalus. The neurologic defects result from primary incomplete neurulation and secondary chronic prenatal damage to the exposed neural elements through mechanical and chemical trauma...
May 17, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28516037/zika-virus-infection-in-a-newly-married-greek-couple
#7
Petros Ioannou, Stella Soundoulounaki, Nikolaos Spernovasilis, Elpida Papadopoulou, Anna Papa, Achilleas Gikas
Zika virus (ZIKV) is a member of the Flaviviridae family causing asymptomatic or mildly symptomatic infections with fever, rash, arthralgia and headache. It is transmitted by the Aedes species mosquitoes and also sexually and transplacentally, and has been recently associated with congenital neurologic birth defects in South and Central America. We report the case of a newly married couple from Greece who travelled to Cuba for their honeymoon and developed mild symptoms consistent with arboviral infection. After returning to Greece, they were found to have been infected by Zika virus during their honeymoon...
2017: IDCases
https://www.readbyqxmd.com/read/28511456/acute-rubella-virus-infection-among-women-with-spontaneous-abortion-in-mwanza-city-tanzania
#8
Lukombodzo Lulandala, Mariam M Mirambo, Dismas Matovelo, Balthazar Gumodoka, Stephen E Mshana
INTRODUCTION: Acute rubella virus infection in early pregnancy has been associated with poor pregnancy outcome ranging from spontaneous abortion, stillbirth and multiple birth defects known as Congenital Rubella Syndrome (CRS). Despite its importance the prevalence of acute rubella virus infections is not known among women with spontaneous abortion in most centres in developing countries. AIM: The present study was aimed to determine the seroprevalence of acute rubella infection among women with spontaneous abortion in Mwanza city...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28508613/genetic-mutations-birth-lengths-weights-and-head-circumferences-of-children-with-igf-i-receptor-defects-comparison-with-other-congenital-defects-in-the-gh-igf-i-axis
#9
Jenna Lee Essakow, Aharon Lauterpacht, Pearl Lilos, Rivka Kauli, Zvi Laron
BACKGROUND: In recent years more and more genetic defects along the GHRH-GH-IGF-I axis have been reported. Mutations of the IGF-I receptor (R) are a rare abnormality of whom only the heterozygote progenies survive. OBJECTIVES: To summarize, from the literature, data on birth length, weight and head circumference of neonates with IGF-I-R mutations, and to correlate the data with that of other types of mutations in the GH/IGF-I axis. SUBJECTS: Sixty seven neonates from 24 published articles were included and forty seven different mutations of the IGF-I (R) located on chromosome 15 have been identified...
September 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28506578/-congenital-heart-disease-in-adolescents-and-adults-management-in-a-general-cardiology-department-in-senegal
#10
A Mbaye, M Bodian, A A Ngaïdé, H Abdourafiq, M C B O Leye, S Savodogo, F Aw, M Ndiaye, I Kouamé, K Babaka, M Dioum, N D Gaye, S A Sarr, M B Ndiaye, A D Kane, A Kane
BACKGROUND: Congenital heart diseases in adults include malformations treated in childhood that decompensate secondarily and those asymptomatic at birth, appear later. This study aims to identify congenital heart diseases in adults in general cardiology department of Senegal and to assess clinical presentations, treatment and outcomes. METHODS: We conducted a cross-sectional and descriptive study based on the records of patients aged at least 16 years and followed for congenital heart disease in the cardiology department of the General Hospital of Grand-Yoff in Dakar between May 2003 and March 2015...
May 12, 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/28506266/impact-of-preterm-birth-on-infant-mortality-for-newborns-with-congenital-heart-defects-the-epicard-population-based-cohort-study
#11
Enora Laas, Nathalie Lelong, Pierre-Yves Ancel, Damien Bonnet, Lucile Houyel, Jean-François Magny, Thibaut Andrieu, François Goffinet, Babak Khoshnood
BACKGROUND: Congenital heart defects (CHD) and preterm birth (PTB) are major causes of infant mortality. However, limited data exist on risk of mortality associated with PTB for newborns with CHD. Our objective was to assess impact of PTB on risk of infant mortality for newborns with CHD, while taking into account the role of associated anomalies and other potentially confounding factors. METHODS: We used data on 2172 live births from a prospective population-based cohort study of CHD (the EPICARD Study) and compared neonatal, post-neonatal and overall infant mortality for infants born at <32, 32-34 and 35-36 weeks vs...
May 15, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28505225/original-findings-and-updated-meta-analysis-for-the-association-between-maternal-diabetes-and-risk-for-congenital-heart-disease-phenotypes
#12
Thanh T Hoang, Lisa K Marengo, Laura E Mitchell, Mark A Canfield, A J Agopian
Maternal diabetes is associated with congenital heart defects (CHDs) as a group, but few studies have assessed risk for specific CHD phenotypes. We analyzed these relationships using data from the Texas Birth Defects Registry and statewide vital records for deliveries taking place in 1999-2009 (n = 48,249 cases). We used Poisson regression to calculate prevalence ratios for the associations between maternal diabetes (pregestational or gestational) and each CHD phenotype, adjusting for potential confounders...
May 13, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28500579/robotic-repair-of-a-right-sided-bochdalek-hernia-a-case-report-and-literature-review
#13
Amani Jambhekar, Shawn Robinson, Brian Housman, James Nguyen, Kevin Gu, Vadim Nakhamiyayev
BACKGROUND: Bochdalek hernias (BHs) are usually diagnosed in the neonatal period, occurring in 1/2200-1/12,500 live births. There are few reported cases of BHs in adults. Robotic repair has not been described in current literature as opposed to the laparoscopic approach. Here we present a case of an adult with clinical signs of bowel obstruction secondary to a BH which was repaired using a robotic approach. CASE REPORT: A 74-year-old gentleman with past medical history of benign prostatic hyperplasia presented to the emergency department with a 1-week history of nausea, vomiting, diarrhea, and decline in appetite...
May 12, 2017: Journal of Robotic Surgery
https://www.readbyqxmd.com/read/28499441/chromosomal-abnormalities-subgroup-analysis-by-maternal-age-and-perinatal-features-in-zhejiang-province-of-china-2011-2015
#14
Xiao-Hui Zhang, Li-Qian Qiu, Ying-Hui Ye, Jian Xu
BACKGROUND: Recently, the prevalence of chromosomal abnormalities (CA) increased as the increasing proportion of mothers with advanced age. We aimed to explore the prevalence of CA in relation to maternal age and perinatal features. METHODS: A retrospective study was performed based on provincial birth defects surveillance data. The relative risk (RR) and 95% confidence interval (CI) were used to calculate maternal age-specific rates of CA. Socio-demographic characteristics of mothers and perinatal features were listed...
May 12, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28497583/evaluation-of-athletes-with-complex-congenital-heart-disease
#15
Benjamin A Bates, Camille Richards, Michael Hall, Edmund K Kerut, William Campbell, Michael R McMullan
As a result of improvements in congenital heart surgery, there are more adults alive today with congenital heart disease (CHD) than children. Individuals with cardiac birth defects may be able to participate in physical activities but require proper cardiovascular evaluation. The American Heart Association and American College of Cardiology released guidelines in 2015 for athletes with cardiovascular abnormalities. The guidelines express that although restriction from competitive athletics may be indicated for some, the majority of individuals with CHD can and should engage in some form of physical activity...
May 12, 2017: Echocardiography
https://www.readbyqxmd.com/read/28496996/anterior-abdominal-wall-defects-diaphragmatic-hernia-and-other-major-congenital-malformations-of-the-musculoskeletal-system-in-barbados-1993-2012
#16
Keerti Singh, Alok Kumar
This study describes the prevalence and patterns of major congenital malformations of the musculoskeletal system and the resulting morbidity and mortality. It is a retrospective population-based study over the period 1993 to 2012. The overall prevalence of major congenital malformations of the musculoskeletal system was 9.02/10,000 live births. The prevalences of omphalocele, gastroschisis, and diaphragmatic hernia were 2.53, 2.22, and 1.42 per 10,000 live births, respectively. The case fatality ratio for the omphalocele, gastroschisis, and diaphragmatic hernia was 12...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28496102/partial-microduplication-in-the-histone-acetyltransferase-complex-member-kansl1-is-associated-with-congenital-heart-defects-in-22q11-2-microdeletion-syndrome-patients
#17
Luis E León, Felipe Benavides, Karena Espinoza, Cecilia Vial, Patricia Alvarez, Mirta Palomares, Guillermo Lay-Son, Macarena Miranda, Gabriela M Repetto
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. Patients with the deletion present features that include neuropsychiatric problems, craniofacial abnormalities and cardiovascular malformations. However, the phenotype is highly variable and the factors related to the clinical heterogeneity are not fully understood. About 65% of patients with 22q11...
May 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28484354/implementation-of-congenital-heart-diseases-screening-at-the-bihac-cantonal-hospital
#18
Mediha Kardasevic, Ida Jovanovic, Jelica Predojevic Samardzic
INTRODUCTION: Congenital heart defects (CHD) were the most common birth defects, and the most common cause of death in infants with congenital anomalies in developed countries. Early detection of these anomalies would greatly enhance the effect of therapeutic procedures and the final outcome. Lately, pulse oximetry (PO) is used for the purpose of screening the cyanotic congenital heart defects. PO in combination with the clinical examination has greater diagnostic sensitivity in detection of CHD...
March 2017: Materia Socio-medica
https://www.readbyqxmd.com/read/28483258/universal-newborn-hearing-screening-in-southwestern-iran
#19
Nader Saki, Arash Bayat, Reza Hoseinabadi, Soheila Nikakhlagh, Majid Karimi, Rezvan Dashti
OBJECTIVES: The implementation of Neonatal Hearing Screening (NHS) program is still at the preliminary stage particularly in developing countries despite the burden of permanent congenital and early-onset hearing impairment. The purpose of this study was to report results for universal newborn NHS in a cohort of children born in the southwestern region of Iran, as part of a national screening program set up by the Iranian National Health System. METHODS: During this cross-sectional study, which took place between March 2013 and April 2016, healthy newborns were screened using transient evoked otoacoustic emissions (TEOAEs) and automated auditory brainstem responses (AABRs) methods at several points in time as early as possible after birth...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28469102/prevalence-of-congenital-heart-disease-among-infants-from-2012-to-2014-in-langfang-china
#20
Peng-Fei Sun, Gui-Chun Ding, Min-Yu Zhang, Sheng-Nan He, Yu Gao, Jian-Hua Wang
BACKGROUND: Congenital heart disease (CHD) is the most common congenital malformations with high mortality and morbidity. The prevalence of CHD reported previously ranged from 4 per 1000 live births to 50 per 1000 live births. In this cross-sectional study, we aimed to document the prevalence of CHD in Langfang district of Hebei Province, China by analyzing data collected by hospitals located in 11 the counties of the district, as supported by a public health campaign. METHODS: A total of 67,718 consecutive 3-month-old infants were included from July 19, 2012 to July 18, 2014...
May 5, 2017: Chinese Medical Journal
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