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Prevalence of birth defects

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https://www.readbyqxmd.com/read/28089487/estimation-of-national-regional-and-global-prevalence-of-alcohol-use-during-pregnancy-and-fetal-alcohol-syndrome-a-systematic-review-and-meta-analysis
#1
Svetlana Popova, Shannon Lange, Charlotte Probst, Gerrit Gmel, Jürgen Rehm
BACKGROUND: Alcohol use during pregnancy is the direct cause of fetal alcohol syndrome (FAS). We aimed to estimate the prevalence of alcohol use during pregnancy and FAS in the general population and, by linking these two indicators, estimate the number of pregnant women that consumed alcohol during pregnancy per one case of FAS. METHODS: We began by doing two independent comprehensive systematic literature searches using multiple electronic databases for original quantitative studies that reported the prevalence in the general population of the respective country of alcohol use during pregnancy published from Jan 1, 1984, to June 30, 2014, or the prevalence of FAS published from Nov 1, 1973, to June 30, 2015, in a peer-reviewed journal or scholarly report...
January 12, 2017: Lancet Global Health
https://www.readbyqxmd.com/read/28086762/prevalence-and-risk-factors-of-congenital-heart-defects-among-live-births-a-population-based-cross-sectional-survey-in-shaanxi-province-northwestern-china
#2
Leilei Pei, Yijun Kang, Yaling Zhao, Hong Yan
BACKGROUND: Nearly half of the population of Northwest China live in Shaanxi province, but population-based data on the epidemiologic characteristics of congenital heart defects (CHD) in this population is limited. The study aimed to investigate the prevalence and epidemiologic characteristics of the CHD among infants born between 2010 and 2013 in Shaanxi province. METHODS: Infants born between 2010 and 2013 in Shaanxi province were surveyed using a stratified multi-stage sampling method...
January 13, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28054412/identifying-birth-defects-in-automated-data-sources-in-the-vaccine-safety-datalink
#3
Elyse Olshen Kharbanda, Gabriela Vazquez-Benitez, Paul A Romitti, Allison L Naleway, T Craig Cheetham, Heather S Lipkind, Shanthi Sivanandam, Nicola P Klein, Grace M Lee, Michael L Jackson, Simon J Hambidge, Avalow Olsen, Natalie McCarthy, Frank DeStefano, James D Nordin
PURPOSE: The Vaccine Safety Datalink (VSD), a collaboration between the Centers for Disease Control and Prevention and several large healthcare organizations, aims to monitor safety of vaccines administered in the USA. We present definitions and prevalence estimates for major structural birth defects to be used in studies of maternal vaccine safety. METHODS: In this observational study, we created and refined algorithms for identifying major structural birth defects from electronic healthcare data, conducted formal chart reviews for severe cardiac defects, and conducted limited chart validation for other defects...
January 4, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28045068/elucidating-the-genetic-basis-of-an-oligogenic-birth-defect-using-whole-genome-sequence-data-in-a-non-model-organism-bubalus-bubalis
#4
Lynsey K Whitacre, Jesse L Hoff, Robert D Schnabel, Sara Albarella, Francesca Ciotola, Vincenzo Peretti, Francesco Strozzi, Chiara Ferrandi, Luigi Ramunno, Tad S Sonstegard, John L Williams, Jeremy F Taylor, Jared E Decker
Recent strong selection for dairy traits in water buffalo has been associated with higher levels of inbreeding, leading to an increase in the prevalence of genetic diseases such as transverse hemimelia (TH), a congenital developmental abnormality characterized by absence of a variable distal portion of the hindlimbs. Limited genomic resources available for water buffalo required an original approach to identify genetic variants associated with the disease. The genomes of 4 bilateral and 7 unilateral affected cases and 14 controls were sequenced...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28043315/right-sided-congenital-diaphragmatic-hernia-and-myelomeningocele-a-rare-association
#5
Syed Rehan Ali, Shakeel Ahmed
Congenital diaphragmatic hernia (CDH) is a rare birth defect with a prevalence of < 0.5 per 1,000 live births. Majority of these defects are left-sided as most studies suggest that frequency of right-sided CDH was 10% of the total. The association of CDH with myelomeningocele (MMC) is extremely rare; as in Sweed's study of 116 consecutive cases of CDH, the incidence of associated MMC with CDH was stated as 4.3%. There has been one previous case report of leftsided CDH, MMC and hydrocephalus prenatally diagnosed; but to the best of authors' knowledge, this is the first reported case of the above constellation with a right-sided CDH diagnosed prenatally...
December 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/27992982/-prevalence-of-birth-defects-in-risaralda-2010-2013
#6
Gloria Liliana Porras-Hurtado, Olga Mercedes León-Castañeda, Jaime Molano-Hurtado, Sandra Lorena Quiceno, Harry Pachajoa, Juan José Montoya
INTRODUCTION: The data regarding birth defects at local levels in developing countries like Colombia are scarce. OBJECTIVE: To describe the profile of congenital abnormalities in the province of Risaralda, Colombia. MATERIALS AND METHODS: We included the information on infants with structural and functional abnormalities at birth between June, 2010, and December, 2013, from records of the Instituto Nacional de Salud, and compared it with those of children born in the same period in a local clinic participating in the Collaborative Study of Congenital Malformations...
December 1, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27991732/acute-myeloid-leukemia-associated-dnmt3a-p-arg882his-mutation-in-a-patient-with-tatton-brown-rahman-overgrowth-syndrome-as-a-constitutional-mutation
#7
Rika Kosaki, Hiroshi Terashima, Masaya Kubota, Kenjiro Kosaki
DNA methylation plays a critical role in both embryonic development and tumorigenesis and is mediated through various DNA methyltransferases. Constitutional mutations in the de novo DNA methyltransferase DNMT3A cause a recently identified Tatton-Brown-Rahman overgrowth syndrome (TBRS). Somatically acquired mutations in DNMT3A are causally associated with acute myeloid leukemia (AML), and p.Arg882His represents the most prevalent hotspot. So far, no patients with TBRS have been reported to have subsequently developed AML...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27990279/genetic-factors-influencing-risk-to-orofacial-clefts-today-s-challenges-and-tomorrow-s-opportunities
#8
REVIEW
Terri H Beaty, Mary L Marazita, Elizabeth J Leslie
Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which combined represent the largest group of craniofacial malformations in humans with an overall prevalence of one per 1,000 live births. Each of these birth defects shows strong familial aggregation, suggesting a major genetic component to their etiology. Genetic studies of orofacial clefts extend back centuries, but it has proven difficult to define any single etiologic mechanism because many genes appear to influence risk...
2016: F1000Research
https://www.readbyqxmd.com/read/27986699/ethnic-and-socioeconomic-variation-in-incidence-of-congenital-heart-defects
#9
Rachel L Knowles, Deborah Ridout, Sonya Crowe, Catherine Bull, Jo Wray, Jenifer Tregay, Rodney C Franklin, David J Barron, David Cunningham, Roger C Parslow, Katherine L Brown
INTRODUCTION: Ethnic differences in the birth prevalence of congenital heart defects (CHDs) have been reported; however, studies of the contemporary UK population are lacking. We investigated ethnic variations in incidence of serious CHDs requiring cardiac intervention before 1 year of age. METHODS: All infants who had a cardiac intervention in England and Wales between 1 January 2005 and 31 December 2010 were identified in the national congenital heart disease surgical audit and matched with paediatric intensive care admission records to create linked individual child records...
December 16, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27984437/descriptive-epidemiology-of-orofacial-clefts-in-ethiopia
#10
Mekonen Eshete, Azeez Butali, Wakgari Deressa, Keyla Pagan-Rivera, Taye Hailu, Fikre Abate, Ibrahim Mohammed, Yohannes Demissie, Abiye Hailu, Deborah V Dawson, Milliard Deribew, Mulualem Gessese, Paul E Gravem, Peter Mossey
BACKGROUND: The prevalence of birth defects including orofacial clefts (OFC) in Ethiopia is not known and there is no established birth defects registration system. OBJECTIVES: To investigate the prevalence and incidence of OFC in Ethiopia. DESIGN: Retrospective hospital-based descriptive study. METHODS: The authors obtained data from the Smile Train database on Ethiopian patients with OFC who underwent surgical treatment from June 2007 to December 2013 at 31 hospitals distributed throughout the country...
December 14, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27978862/serum-c-reactive-protein-levels-and-body-mass-index-in-children-and-adolescents-with-chd
#11
Maíra Ribas Goulart, Daniela Schneid Schuh, David W Moraes, Sandra Mari Barbiero, Lucia Campos Pellanda
BACKGROUND: The prevalence of overweight in children with CHD is about 26.9%. Increase in adipose tissue is related to the secretion of proinflammatory markers such as C-reactive protein. Assuming that children with CHD are exposed to other inherent risk factors for heart disease, our objective was to evaluate the correlation between levels of C-reactive protein and body mass index in children and adolescents with CHD. METHODS: A cross-sectional study with 377 children and adolescents with CHD in a clinical setting of a reference hospital was carried out...
December 16, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27977645/preliminary-report-of-microcephaly-potentially-associated-with-zika-virus-infection-during-pregnancy-colombia-january-november-2016
#12
Esther Liliana Cuevas, Van T Tong, Nathaly Rozo, Diana Valencia, Oscar Pacheco, Suzanne M Gilboa, Marcela Mercado, Christina M Renquist, Maritza González, Elizabeth C Ailes, Carolina Duarte, Valerie Godoshian, Christina L Sancken, Angelica Maria Rico Turca, Dinorah L Calles, Martha Ayala, Paula Morgan, Erika Natalia Tolosa Perez, Hernan Quijada Bonilla, Ruben Caceres Gomez, Ana Carolina Estupiñan, Maria Luz Gunturiz, Dana Meaney-Delman, Denise J Jamieson, Margaret A Honein, Martha Lucia Ospina Martínez
In Colombia, approximately 105,000 suspected cases of Zika virus disease (diagnosed based on clinical symptoms, regardless of laboratory confirmation) were reported during August 9, 2015-November 12, 2016, including nearly 20,000 in pregnant women (1,2). Zika virus infection during pregnancy is a known cause of microcephaly and serious congenital brain abnormalities and has been associated with other birth defects related to central nervous system damage (3). Colombia's Instituto Nacional de Salud (INS) maintains national surveillance for birth defects, including microcephaly and other central nervous system defects...
December 16, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27942761/hand1-loss-of-function-mutation-causes-tetralogy-of-fallot
#13
Juan Wang, Xiao-Qing Hu, Yu-Han Guo, Jian-Yun Gu, Jia-Hong Xu, Yan-Jie Li, Ning Li, Xiao-Xiao Yang, Yi-Qing Yang
As the most prevalent form of birth defect in humans worldwide, congenital heart disease (CHD) is responsible for substantial morbidity and is still the leading cause of birth defect-related demises. Increasing evidence demonstrates that genetic defects play an important role in the pathogenesis of CHD, and mutations in multiple genes, especially in those coding for cardiac core transcription factors, have been causally linked to various CHDs. Nevertheless, CHD is a genetically heterogeneous disease and the genetic determinants underpinning CHD in an overwhelming majority of patients remain elusive...
December 10, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27942498/down-syndrome-current-status-challenges-and-future-perspectives
#14
REVIEW
Mohammad Kazemi, Mansoor Salehi, Majid Kheirollahi
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27931195/prediction-of-spontaneous-closure-of-isolated-ventricular-septal-defects-in-utero-and-postnatal-life
#15
Xing Li, Gui-Xian Song, Li-Jie Wu, Yu-Mei Chen, Yi Fan, Yun Wu, Ya-Hui Shen, Li Cao, Ling-Mei Qian
BACKGROUND: Ventricular septal defect (VSD) is a highly prevalent fetal congenital heart defect, which can become spontaneously closed during infancy. The current study aims to characterize fetal VSDs that were subsequently spontaneously closed in the first 2 years of life in eastern China. METHODS: Between January 2011 and December 2013, 257 fetal patients diagnosed with isolated VSD by fetal echocardiography at Nanjing Maternity and Child Health Care Hospital, China, were enrolled in the study...
December 8, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27911073/reducing-risky-alcohol-use-what-health-care-systems-can-do
#16
Amity E Quinn, Mary Brolin, Maureen T Stewart, Brooke Evans, Constance Horgan
Risky, non-dependent alcohol use is prevalent in the United States, affecting 25% of adults (Centers for Disease Control and Prevention, 2014b). Massachusetts has higher rates of alcohol use and binge drinking than most states (Substance Abuse and Mental Health Services Administration, 2015). Serious physical, social, and economic consequences result. Excessive alcohol use contributes to cancer, cardiovascular disease, sleep disorders, birth defects, motor vehicle injuries, and suicide, and it complicates management of chronic illnesses (Green, McKnight-Eily, Tan, Mejia, & Denny, 2016; Laramee et al...
April 27, 2016: Issue Brief
https://www.readbyqxmd.com/read/27905191/race-and-ethnicity-and-preconception-folic-acid-supplement-use-among-pregnant-women-in-georgia-prams-2009-to-2011
#17
Ayesha Mukhtar, Michael R Kramer, Godfrey P Oakley, Vijaya Kancherla
BACKGROUND: The United States Public Health Service recommends that all women of reproductive age consume 400 μg of folic acid daily to prevent major neural tube defects. Hispanics have the highest prevalence of neural tube defects compared with other race/ethnic groups. We studied prevalence of preconception folic acid supplement use, and its association with race/ethnicity among pregnant women in Georgia. METHODS: Using state-wide population-based data from 2009 to 2011 Georgia Pregnancy Risk Assessment Monitoring System, we examined the prevalence of preconception folic acid supplement use among pregnant women aged 18 to 45 years...
December 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891786/a-quality-assessment-of-reporting-sources-for-microcephaly-in-utah-2003-to-2013
#18
Amy Steele, Jane Johnson, Amy Nance, Robert Satterfield, C J Alverson, Cara Mai
BACKGROUND: Obtaining accurate microcephaly prevalence is important given the recent association between microcephaly and Zika virus. Assessing the quality of data sources can guide surveillance programs as they focus their data collection efforts. The Utah Birth Defect Network (UBDN) has monitored microcephaly by data sources since 2003. The objective of this study was to examine the impact of reporting sources for microcephaly surveillance. METHODS: All reported cases of microcephaly among Utah mothers from 2003 to 2013 were clinically reviewed and confirmed...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891783/population-based-microcephaly-surveillance-in-the-united-states-2009-to-2013-an-analysis-of-potential-sources-of-variation
#19
Janet D Cragan, Jennifer L Isenburg, Samantha E Parker, C J Alverson, Robert E Meyer, Erin B Stallings, Russell S Kirby, Philip J Lupo, Jennifer S Liu, Amanda Seagroves, Mary K Ethen, Sook Ja Cho, MaryAnn Evans, Rebecca F Liberman, Jane Fornoff, Marilyn L Browne, Rachel E Rutkowski, Amy E Nance, Marlene Anderka, Deborah J Fox, Amy Steele, Glenn Copeland, Paul A Romitti, Cara T Mai
BACKGROUND: Congenital microcephaly has been linked to maternal Zika virus infection. However, ascertaining infants diagnosed with microcephaly can be challenging. METHODS: Thirty birth defects surveillance programs provided data on infants diagnosed with microcephaly born 2009 to 2013. The pooled prevalence of microcephaly per 10,000 live births was estimated overall and by maternal/infant characteristics. Variation in prevalence was examined across case finding methods...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891781/geographic-distribution-of-live-births-with-tetralogy-of-fallot-in-north-carolina-2003-to-2012
#20
Jennifer S Nelson, Rebecca C Stebbins, Paula D Strassle, Robert E Meyer
BACKGROUND: Geographic variation in congenital heart disease is not well-described. This study uses geographic information systems (GIS) to describe the spatial epidemiology of tetralogy of Fallot (TOF), in North Carolina (NC) and to compare travel time for cases to congenital heart centers in NC. METHODS: Using the NC Birth Defects Monitoring Program database, live births with TOF born between 2003 and 2012 were identified. Birth certificates provided demographic variables...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
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