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Prevalence of birth defects

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https://www.readbyqxmd.com/read/28446301/-analysis-of-gene-mutation-types-of-thalassemia-in-longyan-area-of-fujian-province-in-china
#1
Qing-Fu Dai, Xiao-Lu Li, Yu-Xia Wang, Chun-Fang Cao
OBJECTIVE: To explore the type and distribution of thalassemia gene mutation in Longyan area of Fujian province in China, so as to provide a evidence for prenatal diagnosis and to reduce birth defects. METHODS: The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin electrophoresis were used for screened the mutation types of thalassemia. Genotyping of the screened positive sample was performed by gap single polymerase chain reaction (gap-PCR) and reverse dot blot hybridization (RDB)...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28446117/prevalence-of-microcephaly-in-an-australian-population-based-birth-defects-register-1980-2015
#2
Michele Hansen, Paul K Armstrong, Carol Bower, Gareth S Baynam
OBJECTIVES: To describe the prevalence and characteristics of microcephaly in a geographically defined Australian population. DESIGN, SETTING AND PARTICIPANTS: Descriptive epidemiological study of microcephaly cases ascertained by the Western Australian Register of Developmental Anomalies, 1980-2015, defining microcephaly as an occipito-frontal head circumference below the third percentile or more than two standard deviations below the mean sex- and age-appropriate distribution curve...
May 1, 2017: Medical Journal of Australia
https://www.readbyqxmd.com/read/28432837/identifying-genetic-sources-of-phenotypic-heterogeneity-in-orofacial-clefts-by-targeted-sequencing
#3
Jenna C Carlson, Margaret A Taub, Eleanor Feingold, Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Elizabeth J Leslie
BACKGROUND: Orofacial clefts (OFCs), including nonsyndromic cleft lip with or without cleft palate (NSCL/P), are common birth defects. NSCL/P is highly heterogeneous with multiple phenotypic presentations. Two common subtypes of NSCL/P are cleft lip (CL) and cleft lip with cleft palate (CLP) which have different population prevalence. Similarly, NSCL/P can be divided into bilateral and unilateral clefts, with unilateral being the most common. Individuals with unilateral NSCL/P are more likely to be affected on the left side of the upper lip, but right side affection also occurs...
April 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398708/evidence-of-gene-gene-interactions-between-mthfd1-and-mthfr-in-relation-to-anterior-encephalocele-susceptibility-in-northeast-india
#4
Hemonta Kr Dutta, Debasish Borbora, Mauchumi Baruah, Kanwar Narain
BACKGROUND: Anterior encephalocele (AE) is a rare congenital anomaly of the central nervous system which is thought to be associated with genetic defects in folate metabolism. METHODS: This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population...
April 3, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398681/population-based-pregnancy-and-birth-defects-surveillance-in-the-era-of-zika-virus
#5
Suzanne M Gilboa, Cara T Mai, Carrie K Shapiro-Mendoza, Janet D Cragan, Cynthia A Moore, Dana M Meaney-Delman, Denise J Jamieson, Margaret A Honein, Coleen A Boyle
BACKGROUND: Zika virus is a newly recognized human teratogen; monitoring its impact on the birth prevalence of microcephaly and other adverse pregnancy outcomes will continue to be an urgent need in the United States and worldwide. METHODS: When the Centers for Disease Control and Prevention (CDC) activated the Emergency Operations Center for the Zika virus outbreak response in January of 2016, public health leadership recognized that a joint, coordinated effort was required between activities focused on the effects of the infection among pregnant women and those focused on birth defects in fetuses and infants...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398664/rare-copy-number-variants-in-patients-with-congenital-conotruncal-heart-defects
#6
Hongbo M Xie, Petra Werner, Dwight Stambolian, Joan E Bailey-Wilson, Hakon Hakonarson, Peter S White, Deanne M Taylor, Elizabeth Goldmuntz
BACKGROUND: Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects. We sought to identify disease-related CNVs, candidate genes, and functional pathways in a large number of cases with conotruncal and related defects that carried no known genetic syndrome. METHODS: Cases and control samples were divided into two cohorts and genotyped to assess each subject's CNV content...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398639/maternal-antibodies-to-chlamydia-trachomatis-and-risk-of-gastroschisis
#7
Samantha E Parker, Martha M Werler, Mika Gissler, Heljä-Marja Surcel
BACKGROUND: Gastroschisis, a birth defect of the abdominal wall, is increasing in prevalence. The largest increase in prevalence has been observed among young mothers (<20 years). The prevalence of Chlamydia trachomatis (CT) infection is highest among young women and has also been increasing over time. The objective was to investigate the association between immunoglobulin G antibodies to Chlamydia trachomatis (CT) (anti-CT) and Chlamydial heat shock protein 60 (anti-CHP60) during pregnancy, and risk of gastroschisis among offspring...
February 24, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28362184/surveillance-survey-of-family-history-in-children-with-neural-tube-defects
#8
Esther B Dupépé, Daxa M Patel, Brandon G Rocque, Betsy Hopson, Anastasia A Arynchyna, E Ralee' Bishop, Jeffrey P Blount
OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract)...
March 31, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28358798/screening-for-excessive-alcohol-use-and-brief-counseling-of-adults-17-states-and-the-district-of-columbia-2014
#9
Lela R McKnight-Eily, Catherine A Okoro, Roberto Mejia, Clark H Denny, John Higgins-Biddle, Dan Hungerford, Dafna Kanny, Joseph E Sniezek
Excessive and/or risky alcohol use* resulted in $249 billion in economic costs in 2010 (1) and >88,000 deaths in the United States every year from 2006 to 2010 (2). It is associated with birth defects and disabilities (e.g., fetal alcohol spectrum disorders [FASDs]), increases in chronic diseases (e.g., heart disease and breast cancer), and injuries and violence (e.g., motor vehicle crashes, suicide, and homicide).(†) Since 2004, the U.S. Preventive Services Task Force (USPSTF) has recommended alcohol misuse screening and brief counseling (also known as alcohol screening and brief intervention or ASBI) for adults aged ≥18 years (3)...
March 31, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28355499/quadrivalent-hpv-vaccination-and-the-risk-of-adverse-pregnancy-outcomes
#10
Nikolai M Scheller, Björn Pasternak, Ditte Mølgaard-Nielsen, Henrik Svanström, Anders Hviid
BACKGROUND: The quadrivalent human papillomavirus (HPV) vaccine is recommended for all girls and women 9 to 26 years of age. Some women will have inadvertent exposure to vaccination during early pregnancy, but few data exist regarding the safety of the quadrivalent HPV vaccine in this context. METHODS: We assessed a cohort that included all the women in Denmark who had a pregnancy ending between October 1, 2006, and November 30, 2013. Using nationwide registers, we linked information on vaccination, adverse pregnancy outcomes, and potential confounders among women in the cohort...
March 30, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28346269/cohort-variation-in-selection-during-pregnancy-and-risk-of-selected-birth-defects-among-males
#11
Tim A Bruckner, Deborah Karasek, Wei Yang, Gary M Shaw, Ralph A Catalano
BACKGROUND: The literature theorizes, but does not test, that variation over time in selective loss in utero affects the observed count of live-born birth defects cases. We test the hypothesis that the risk of birth defects among live-born males varies inversely with the strength of selection against males in utero. METHODS: We identified a subset of six birth defect phenotypes among males from the California Birth Defects Monitoring Program, an active surveillance system for over 490,000 male singletons born in eight California counties from 1986 through 2004...
March 23, 2017: Epidemiology
https://www.readbyqxmd.com/read/28343557/infants-born-to-opioid-dependent-women-in-ontario-2002-2014
#12
Susan B Brogly, Suzanne Turner, Katherine Lajkosz, Greg Davies, Adam Newman, Ana Johnson, Kimberly Dow
BACKGROUND: There is a paucity of data characterizing mother-infant pairs with prenatal opioid dependence in Canada. We therefore conducted a study of relevant births in Ontario from 2002 to 2014. METHODS: We used data from the Institute for Clinical Evaluative Sciences, the linked databases of coded population-based Ontario health services records. Differences in characteristics of opioid-dependent mother-neonate pairs and infant hospital costs by year were assessed using linear regression, and we calculated rates of preterm birth, low birth weight, birth defects, mortality, and neonatal abstinence syndrome...
March 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28289727/seroprevalence-of-zika-virus-in-wild-african-green-monkeys-and-baboons
#13
Connor R Buechler, Adam L Bailey, Andrea M Weiler, Gabrielle L Barry, Meghan E Breitbach, Laurel M Stewart, Anna J Jasinska, Nelson B Freimer, Cristian Apetrei, Jane E Phillips-Conroy, Clifford J Jolly, Jeffrey Rogers, Thomas C Friedrich, David H O'Connor
Zika virus (ZIKV) has recently spread through the Americas and has been associated with a range of health effects, including birth defects in children born to women infected during pregnancy. Although the natural reservoir of ZIKV remains poorly defined, the virus was first identified in a captive "sentinel" macaque monkey in Africa in 1947. However, the virus has not been reported in humans or nonhuman primates (NHPs) in Africa outside Gabon in over a decade. Here, we examine ZIKV infection in 239 wild baboons and African green monkeys from South Africa, the Gambia, Tanzania, and Zambia using combinations of unbiased deep sequencing, quantitative reverse transcription-PCR (qRT-PCR), and an antibody capture assay that we optimized using serum collected from captive macaque monkeys exposed to ZIKV, dengue virus, and yellow fever virus...
March 2017: MSphere
https://www.readbyqxmd.com/read/28287452/congenital-anomalies-in-contaminated-sites-a-multisite-study-in-italy
#14
Michele Santoro, Fabrizio Minichilli, Anna Pierini, Gianni Astolfi, Lucia Bisceglia, Pietro Carbone, Susanna Conti, Gabriella Dardanoni, Ivano Iavarone, Paolo Ricci, Gioacchino Scarano, Fabrizio Bianchi, RiscRipro Sentieri Working Group
The health impact on populations residing in industrially contaminated sites (CSs) is recognized as a public health concern especially in relation to more vulnerable population subgroups. The aim of this study was to estimate the risk of congenital anomalies (CAs) in Italian CSs. Thirteen CSs covered by regional CA registries were investigated in an ecological study. The observed/expected ratios (O/E) with 90% confidence intervals (CI) for the total and specific subgroups of CAs were calculated using the regional areas as references...
March 10, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28285497/cytomegalovirus-infection-among-pregnant-women-in-beijing-seroepidemiological-survey-and-intrauterine-transmission
#15
Qing-E Jin, Jian-Rong Su, Shan-Na Wu
Primary cytomegalovirus (CMV) infection during pregnancy can cause congenital defects. Available data for CMV infection during pregnancy in north China is inadequate. The aim of this study was to evaluate the epidemiology of maternal CMV infection and explore the incidence of congenital infection. In this prospective study, serum CMV IgG and IgM antibody were measured in 2887 pregnant women using ELISA, and IgG avidity test was performed on all IgM positive subjects. The seroprevalence of anti-CMV IgG was 94...
March 13, 2017: Journal of Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28280393/prevalence-and-pattern-of-birth-defects-in-a-tertiary-health-facility-in-the-niger-delta-area-of-nigeria
#16
Mkpe Abbey, Olufemi A Oloyede, Goddy Bassey, Benjamin M Kejeh, Barbara E Otaigbe, Peace I Opara, Austa U Eneh, Chris I Akani
OBJECTIVE: To ascertain the prevalence and pattern of congenital abnormalities that are peculiar to the Niger Delta area of Nigeria. METHODS: This is a descriptive retrospective cross-sectional study. It involved data from the labor ward and neonatal birth registers of the University of Port Harcourt Teaching Hospital on the total number of births and the babies that were delivered with major birth defects between August 2011 and December 2014. We also conducted a statistical comparison of the prevalence of congenital abnormalities in the Niger Delta with that in other regions of Nigeria and the developed world of Europe...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/28264988/maltreatment-risk-among-children-with-disabilities
#17
Miriam J Maclean, Scott Sims, Carol Bower, Helen Leonard, Fiona J Stanley, Melissa O'Donnell
BACKGROUND: Children with disabilities are at increased risk of child maltreatment; however, there is a gap in the evidence about whether all disabilities are at equal risk and whether risk factors vary according to the type of disability. METHODS: A population-based record-linkage study of all children born in Western Australia between 1990 and 2010. Children with disabilities were identified by using population-based registers and risk of maltreatment determined by allegations reported to the Department for Child Protection and Family Support...
March 6, 2017: Pediatrics
https://www.readbyqxmd.com/read/28253231/baseline-prevalence-of-birth-defects-associated-with-congenital-zika-virus-infection-massachusetts-north-carolina-and-atlanta-georgia-2013-2014
#18
Janet D Cragan, Cara T Mai, Emily E Petersen, Rebecca F Liberman, Nina E Forestieri, Alissa C Stevens, Augustina Delaney, April L Dawson, Sascha R Ellington, Carrie K Shapiro-Mendoza, Julie E Dunn, Cathleen A Higgins, Robert E Meyer, Tonya Williams, Kara N D Polen, Kim Newsome, Megan Reynolds, Jennifer Isenburg, Suzanne M Gilboa, Dana M Meaney-Delman, Cynthia A Moore, Coleen A Boyle, Margaret A Honein
Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3)...
March 3, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28225033/rapid-and-reliable-detection-of-nonsyndromic-hearing-loss-mutations-by-multicolor-melting-curve-analysis
#19
Xudong Wang, Yongjun Hong, Peihong Cai, Ning Tang, Ying Chen, Tizhen Yan, Yinghua Liu, Qiuying Huang, Qingge Li
Hearing loss is a common birth defect worldwide. The GJB2, SLC26A4, MT-RNR1 and MT-TS1 genes have been reported as major pathogenic genes in nonsyndromic hearing loss. Early genetic screening is recommended to minimize the incidence of hearing loss. We hereby described a multicolor melting curve analysis (MMCA)-based assay for simultaneous detection of 12 prevalent nonsyndromic hearing loss-related mutations. The three-reaction assay could process 30 samples within 2.5 h in a single run on a 96-well thermocycler...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28206997/pulmonary-hypertension-in-preterm-infants-results-of-a-prospective-screening-program
#20
C G Weismann, J D Asnes, A Bazzy-Asaad, C Tolomeo, R A Ehrenkranz, M J Bizzarro
OBJECTIVE: Determine prevalence and associations with pulmonary hypertension (PH) in preterm infants. STUDY DESIGN: Prospective institutional echocardiographic PH screening at 36 to 38 weeks' corrected gestational age (GA) for infants born <32 weeks' GA who had bronchopulmonary dysplasia (BPD; group BPD), and infants without BPD who had a birth weight (BW) <750 g, or clinical suspicion for PH (group NoBPD). RESULTS: Two hundred and four infants were screened (GA 25...
February 16, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
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