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Prevalence of birth defects

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https://www.readbyqxmd.com/read/28925591/melinjo-gnetum-gnemon-seed-extract-consumption-during-lactation-improved-vasodilation-and-attenuated-the-development-of-hypertension-in-female-offspring-of-fructose-fed-pregnant-rats
#1
Rachael A Uson-Lopez, Saori Kataoka, Yuuka Mukai, Shin Sato, Masaaki Kurasaki
BACKGROUND: Fructose intake has been correlated with increased prevalence of metabolic disorders including hypertension. In pregnant rats, fructose intake has been reported to have adverse effects on the health of its offspring. This study investigated the effects of gestational maternal fructose consumption and if supplementation with melinjo seed extracts to the maternal diet during lactation could benefit the offspring in later life. METHODS: Pregnant rats were randomly divided into three groups: untreated (CC), fructose-treated (FC), and fructose and melinjo-treated (FM)...
September 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28905502/prevalence-trends-of-selected-major-birth-defects-a-multi-state-population-based-retrospective-study-united-states-1999-to-2007
#2
Amanda M St Louis, Keewan Kim, Marilyn L Browne, Gang Liu, Rebecca F Liberman, Wendy N Nembhard, Mark A Canfield, Glenn Copeland, Jane Fornoff, Russell S Kirby
BACKGROUND: We evaluated selected birth defects over a 9-year period to assess prevalence trends by selected maternal and infant factors. METHODS: Data were pooled from 11 population-based birth defects surveillance programs in the United States for children born between 1999 and 2007. Overall prevalence, as well as 3-year interval prevalence, was calculated for 26 specific birth defects, stratified by maternal age, maternal race/ethnicity, and infant sex. Average annual percent change (AAPC) was calculated for each birth defect...
September 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/28898320/-peroxisomal-disorder-rhizomelyc-chondrodysplasia-punctata-type-1-case-report
#3
Cesar Leonardo González-Ortiz, Sandra Bibiana Jaimes Leguizamón, Gustavo Adolfo Contreras-García
INTRODUCTION: Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme dificiencies. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) belongs to the first group, caused by autosomal recessive mutations on PEX7 gene, encoding for PTS2 receptor. The aims of this report are to describe a genetic disease of low prevalence, explaining its main characteristics and the importance of the diagnostic approach and genetic counseling. CASE REPORT: 13-month-old male infant with no medical history, family or consanguinity, demonstrate at birth upper limbs shortening...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28898253/engineering-human-cell-spheroids-to-model-embryonic-tissue-fusion-in-vitro
#4
David G Belair, Cynthia J Wolf, Carmen Wood, Hongzu Ren, Rachel Grindstaff, William Padgett, Adam Swank, Denise MacMillan, Anna Fisher, Witold Winnik, Barbara D Abbott
Epithelial-mesenchymal interactions drive embryonic fusion events during development, and perturbations of these interactions can result in birth defects. Cleft palate and neural tube defects can result from genetic defects or environmental exposures during development, yet very little is known about the effect of chemical exposures on fusion events during human development because of a lack of relevant and robust human in vitro assays of developmental fusion behavior. Given the etiology and prevalence of cleft palate and the relatively simple architecture and composition of the embryonic palate, we sought to develop a three-dimensional culture system that mimics the embryonic palate and could be used to study fusion behavior in vitro using human cells...
2017: PloS One
https://www.readbyqxmd.com/read/28893486/-anti-d-prophylaxis-in-fetal-maternal-erythrocyte-incompatibility-in-tunisia
#5
I Ksibi, R Achour, W Bel Haj Ammar, M Cheour, M Ben Amara, K Neji, S Kacem
Generalization of postnatal prophylaxis using anti-D immunoglobulins decreased the incidence of erythrocyte fetal-maternal incompatibility (EFMI) in the Rhesus system. Few recent studies have investigated the situation of anti-D prophylaxis in Tunisia and its effects on maternal and neonatal health. The aim of this study was therefore to analyze the situation of anti-D prophylaxis in Tunisia to detect defects and propose solutions. We conducted a retrospective descriptive study of IFME cases in the rhesus system in the Department of Medicine and Neonatal Resuscitation of the Tunis Maternity and Neonatology Center (CMNT) during an 8-year period from 1 January 2006 to 31 December 2015...
September 8, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28888041/supplementation-with-the-methyl-donor-betaine-prevents-congenital-defects-induced-by-prenatal-alcohol-exposure
#6
Ganga Karunamuni, Megan M Sheehan, Yong Qiu Doughman, Shi Gu, Jiayang Sun, Youjun Li, James P Strainic, Andrew M Rollins, Michael W Jenkins, Michiko Watanabe
BACKGROUND: Despite decades of public education about dire consequences of prenatal alcohol exposure, drinking alcohol during pregnancy remains prevalent. As high as 40% of live-born infants exposed to alcohol during gestation and diagnosed with Fetal Alcohol Syndrome have congenital heart defects that can be life-threatening. In animal models, the methyl donor betaine, found in foods such as wheat bran, quinoa, beets and spinach, ameliorated neurobehavioral deficits associated with prenatal alcohol exposure (PAE) but effects on heart development are unknown...
September 9, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28881776/changing-trends-in-the-prevalence-of-anencephaly-in-liaoning-province-of-northeast-china-from-2006-2015-data-from-a-population-based-birth-defects-registry
#7
Ting-Ting Gong, Qi-Jun Wu, Yan-Ling Chen, Cheng-Zhi Jiang, Da Li, Jing Li, Li-Li Li, Chen Zhou, Yan-Hong Huang
The goal of this study was to assess the prevalence and trends of anencephaly on the basis of a large population-based cases identified by the Liaoning Birth Defects Registry, which included 14 cities over a 10-year period. Anencephaly prevalence, percent change, average changeand the contribution rates of each city were calculated. Statistical analysis was undertaken on the basis of a Poisson regression model. A total of 1600 anencephaly cases were collected during the observational period (4.92/10,000 live births)...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28853333/under-reporting-of-major-birth-defects-in-northwest-russia-a-registry-based-study
#8
Anton A Kovalenko, Tormod Brenn, Jon Øyvind Odland, Evert Nieboer, Alexandra Krettek, Erik Eik Anda
The objective was to assess the prevalence of selected major birth defects, based on data from two medical registries in Murmansk County, and compare the observed rates with those available for Norway and Arkhangelsk County, Northwest Russia. It included all newborns (≥22 completed weeks of gestation) registered in the Murmansk County Birth Registry (MCBR) and born between 1 January 2006 and 31 December 2009 (n=35,417). The infants were followed-up post-partum for 2 years through direct linkage to the Murmansk Regional Congenital Defects Registry (MRCDR)...
2017: International Journal of Circumpolar Health
https://www.readbyqxmd.com/read/28837029/zika-virus-outbreak-should-assisted-reproduction-patients-avoid-pregnancy
#9
Edson Borges, Daniela Paes de Almeida Ferreira Braga, Bianca Ferrarini Zanetti, Amanda Souza Setti, Rodrigo Rosa Provenza, Assumpto Iaconelli
OBJECTIVE: To discuss the requirement from the National Health Surveillance Agency (ANVISA), for assisted reproduction treatment patients to undergo laboratory tests for ZIKV detection, and if the public health authorities and government leaders' recommendations to women simply avoid pregnancy is prudent. METHODS: This study was performed in a university-affiliated in vitro fertilization center in Brazil. We present a critical discussion on the risk of microcephaly due to ZIKV infection and the prevalence of other harmful pathogens to vulnerable pregnant women and infants...
September 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28831385/the-prevalence-of-diseases-caused-by-lysosome-related-genes-in-a-cohort-of-undiagnosed-patients
#10
Filippo Pinto Vairo, Nicole J Boczek, Margot A Cousin, Charu Kaiwar, Patrick R Blackburn, Erin Conboy, Brendan C Lanpher, Ralitza H Gavrilova, Pavel N Pichurin, Konstantinos N Lazaridis, Dusica Babovic-Vuksanovic, Eric W Klee
Lysosomal diseases (LD) comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations. The estimated combined incidence of LD is between 1 in 4000 to 1 in 13,000 live births, with recent data from pilot newborn screening studies showing even higher incidence. We aimed to determine the prevalence of the classical LD and other diseases caused by lysosome-related genes in our cohort of diagnostic odyssey patients...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28828329/next-generation-sequencing-and-karyotype-analysis-for-the-diagnosis-of-robertsonian-translocation-type-trisomy-13-a-case-report
#11
Jing Sha, Fumin Liu, Bei Zhang, Yang Huang, Qinglin Zhang, Gao Juan, Jingfang Zhai
Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy with a prevalence between 1 in 10,000 - 20,000 live births. Robertsonian translocations represent the largest number of chromosomal aberrations in human population with an incidence of 1.23 in 1000 live birth and translocation 13;14 is one of the most frequent Robertsonian translocations (approximately 75%). We sampled umbilical vein blood from a 27-yr-old woman whose ultrasonography findings revealed congenital heart defects, single ventricle, polycystic kidney, median cleft lip and palate and holoprosencephaly at gestational age of 23+6 weeks for karyotype and sequencing during intra-amniotic cavity injection of acrinol for labor induction...
June 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28817352/arhgap29-mutation-is-associated-with-abnormal-oral-epithelial-adhesions
#12
B J Paul, K Palmer, J C Sharp, C H Pratt, S A Murray, M Dunnwald
Nonsyndromic cleft lip and/or palate (NSCL/P) is a prevalent birth defect of complex etiology. Previous studies identified mutations in ARHGAP29 associated with an increased risk for NSCL/P. To investigate the effects of ARHGAP29 in vivo, we generated a novel murine allele by inserting a point mutation identified in a patient with NSCL/P. This single-nucleotide variation of ARHGAP29 translates to an early nonsense mutation (K326X), presumably resulting in loss-of-function (LoF). Embryos from Arhgap29(K326X/+) intercrosses were harvested at various time points...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28802092/utility-of-capture-recapture-methodology-to-estimate-prevalence-of-congenital-heart-defects-among-adolescents-in-11-new-york-state-counties-2008-to-2010
#13
Tugba Akkaya-Hocagil, Wan-Hsiang Hsu, Kristin Sommerhalter, Claire McGarry, Alissa Van Zutphen
BACKGROUND: Congenital heart defects (CHDs) are the most common birth defects in the United States, and the population of individuals living with CHDs is growing. Though CHD prevalence in infancy has been well characterized, better prevalence estimates among children and adolescents in the United States are still needed. METHODS: We used capture-recapture methods to estimate CHD prevalence among adolescents residing in 11 New York counties. The three data sources used for analysis included Statewide Planning and Research Cooperative System (SPARCS) hospital inpatient records, SPARCS outpatient records, and medical records provided by seven pediatric congenital cardiac clinics from 2008 to 2010...
August 12, 2017: Birth defects research
https://www.readbyqxmd.com/read/28796684/maternal-and-infant-outcomes-after-human-papillomavirus-vaccination-in-the-periconceptional-period-or-during-pregnancy
#14
Heather S Lipkind, Gabriela Vazquez-Benitez, James D Nordin, Paul A Romitti, Allison L Naleway, Nicola P Klein, Rulin C Hechter, Michael L Jackson, Simon J Hambidge, Grace M Lee, Lakshmi Sukumaran, Elyse O Kharbanda
OBJECTIVE: To evaluate whether quadrivalent human papillomavirus vaccine (4vHPV) administered during the periconceptional period or during pregnancy was associated with increased risks for adverse obstetric events, adverse birth outcomes, or selected major structural birth defects. METHODS: We conducted a retrospective, observational cohort study using administrative and health care data from the Vaccine Safety Datalink. Insured women 13-27 years old with singleton pregnancies and a live birth from January 1, 2007, through September 1, 2013, who received 4vHPV during the periconceptional period (2 weeks before to 2 weeks after their last menstrual period), during pregnancy, or during both periods combined were compared with women who had a live birth during the same time period and received 4vHPV 4-18 months before their last menstrual period...
September 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28796676/sleep-disorder-diagnosis-during-pregnancy-and-risk-of-preterm-birth
#15
Jennifer N Felder, Rebecca J Baer, Larry Rand, Laura L Jelliffe-Pawlowski, Aric A Prather
OBJECTIVE: To test the hypothesis that sleep disorder diagnosis would be associated with increased risk of preterm birth and to examine risk by gestational age, preterm birth type, and specific sleep disorder (insomnia, sleep apnea, movement disorder, and other). METHODS: In this observational study, participants were from a cohort of nearly 3 million women in California between 2007 and 2012. Inclusion criteria were women with singleton neonates liveborn between 20 and 44 weeks of gestation without chromosomal abnormalities or major structural birth defects linked to a hospital discharge database maintained by the California Office of Statewide Health Planning and Development and without mental illness during pregnancy...
September 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28796462/malformations-surveillance-comparison-between-findings-at-birth-and-age-1-year
#16
Emma G Thomas, Cathleen Higgins, Marie-Noel Westgate, Angela E Lin, Marlene Anderka, Lewis B Holmes
BACKGROUND: Malformations surveillance programs among newborn infants are used to determine the prevalence of congenital anomalies. A comparison in the same group of infants between the malformations detected at birth and those detected at 1 year of age will identify errors in the surveillance process and, also, the abnormalities more likely not to be detected at birth, but later in the first year of life. METHODS: The malformations identified at birth by Brigham and Women's Hospital (BWH) in the years 2000 and 2005 have been compared with the abnormalities detected in the same infants up to age 1 year by the Massachusetts Birth Defects Monitoring Program...
August 10, 2017: Birth defects research
https://www.readbyqxmd.com/read/28782264/anal-sphincter-defects-and-faecal-incontinence-15-24-years-after-first-delivery-a-cross-sectional-study
#17
Rodrigo A Guzmán Rojas, Kjell Å Salvesen, Ingrid Volløyhaug
OBJECTIVES: To establish the prevalence of external (EAS) and internal anal sphincter (IAS) defects 15-24 years after childbirth in association to mode of delivery and faecal incontinence (FI), and compare the proportion of obstetric anal sphincter injuries (OASIS) reported at delivery with defects on ultrasound. METHODS: This was a cross-sectional study including 563 women, who delivered their first child from 1990-97. Women responded to a validated questionnaire (PFDI) in 2013-14...
August 6, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28765025/congenital-malformations-of-the-central-nervous-system-in-rural-western-honduras-a-6-year-report-on-trends
#18
Dagoberto Estevez-Ordonez, Michael C Dewan, Michael J Feldman, Eleazar E Montalvan-Sanchez, Daniela M Montalvan-Sanchez, Aida A Rodriguez-Murillo, Samuel A Urrutia-Argueta, Charlotte B Cherry, Douglas R Morgan, Roberto Alvarez-Rodriguez, Christopher M Bonfield
BACKGROUND: Central nervous system (CNS) malformations including neural tube defects (NTDs) are the second most common type of birth defects world-wide, and are major causes of childhood disability and mortality. We report the first analysis of prevalence in Western Honduras of CNS malformations including NTDs over six consecutive years. METHODS: Data from all patients with congenital CNS malformations and total live births between 2010 and 2015 were obtained through institution and regional registries from all three public referral hospitals in Western Honduras, representing 67 municipalities...
July 29, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28762674/identifying-genetic-sources-of-phenotypic-heterogeneity-in-orofacial-clefts-by-targeted-sequencing
#19
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...
July 17, 2017: Birth defects research
https://www.readbyqxmd.com/read/28761054/using-latent-class-cluster-analysis-to-screen-high-risk-clusters-of-birth-defects-between-2009-and-2013-in-northwest-china
#20
Leilei Pei, Lingxia Zeng, Yaling Zhao, Duolao Wang, Hong Yan
In the study, we aimed to explore the synergistic effects of multiple risk factors on birth defects, and examine temporal trend of the synergistic effects over time. Two cross-sectional surveys conducted in 2009 and 2013 were merged and then latent class cluster analysis and generalized linear Poisson model were used. A total of 9085 and 29094 young children born within the last three years and their mothers were enrolled in 2009 and 2013 respectively. Three latent maternal exposure clusters were determined: a high-risk, a moderate-risk, and a low-risk cluster (88...
July 31, 2017: Scientific Reports
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