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Prevalence of birth defects

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https://www.readbyqxmd.com/read/28225033/rapid-and-reliable-detection-of-nonsyndromic-hearing-loss-mutations-by-multicolor-melting-curve-analysis
#1
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
#2
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
https://www.readbyqxmd.com/read/28199379/the-effects-of-amoxicillin-treatment-of-newborn-piglets-on-the-prevalence-of-hernias-and-abscesses-growth-and-ampicillin-resistance-of-intestinal-coliform-bacteria-in-weaned-pigs
#3
Jinhyeon Yun, Satu Olkkola, Marja-Liisa Hänninen, Claudio Oliviero, Mari Heinonen
This study investigated the effects of a single amoxicillin treatment of newborn piglets on the prevalence of hernias and abscesses until the age of nine weeks. We also studied whether the treatment was associated with growth and mortality, the need for treatment of other diseases, the proportions of ampicillin resistant coliforms and antimicrobial resistance patterns of intestinal Escherichia coli (E. coli). A total of 7156 piglets, from approximately 480 litters, were divided into two treatment groups: ANT (N = 3661) and CON (N = 3495), where piglets were treated with or without a single intramuscular injection of 75 mg amoxicillin one day after birth, respectively...
2017: PloS One
https://www.readbyqxmd.com/read/28182608/prevalence-and-clinical-attributes-of-congenital-microcephaly-new-york-2013-2015
#4
Krishika A Graham, Deborah J Fox, Achala Talati, Cristian Pantea, Laura Brady, Sondra L Carter, Eric Friedenberg, Neil M Vora, Marilyn L Browne, Christopher T Lee
Congenital Zika virus infection can cause microcephaly and other severe fetal neurological anomalies (1). To inform microcephaly surveillance efforts and assess ascertainment sources, the New York State Department of Health and the New York City Department of Health and Mental Hygiene sought to determine the prevalence of microcephaly in New York during 2013-2015, before known importation of Zika virus infections. Suspected newborn microcephaly diagnoses were identified from 1) reports submitted by birth hospitals in response to a request and 2) queries of a hospital administrative discharge database for newborn microcephaly diagnoses...
February 10, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28177882/time-trends-in-the-prevalence-and-epidemiological-characteristics-of-neural-tube-defects-in-liaoning-province-china-2006-2015-a-population-based-study
#5
Tie-Ning Zhang, Ting-Ting Gong, Yan-Ling Chen, Qi-Jun Wu, Yuan Zhang, Cheng-Zhi Jiang, Jing Li, Li-Li Li, Chen Zhou, Yan-Hong Huang
To evaluate the time trends in the prevalence of neural tube defects and all their subtypes as well as to identify the epidemiological characteristics of these malformations documented in the Liaoning Province of northeast China from 2006 to 2015. This was a population-based observational study using data from 3,248,954 live births as well as from 6217 cases of neural tube defects, 1,600 cases of anencephaly, 2,029 cases of spina bifida, 404 cases of encephalocele, and 3,008 cases of congenital hydrocephalus from 14 cities in Liaoning Province from 2006 to 2015...
February 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28153478/perfusion-index-and-pulse-oximetry-screening-for-congenital-heart-defects
#6
Federico Schena, Irene Picciolli, Massimo Agosti, Antonio Alberto Zuppa, Gianvincenzo Zuccotti, Luciana Parola, Giulia Pomero, Giorgio Stival, Markus Markart, Silvia Graziani, Luigi Gagliardi, Cristina Bellan, Simona La Placa, Giuseppe Limoli, Gabriella Calzetti, Andrea Guala, Enza Bonello, Fabio Mosca
OBJECTIVE: To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals. STUDY DESIGN: A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission...
January 30, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28151899/cohort-study-on-maternal-cytomegalovirus-seroprevalence-and-prevalence-and-clinical-manifestations-of-congenital-infection-in-china
#7
Shiwen Wang, Tongzhan Wang, Wenqiang Zhang, Xiaolin Liu, Xiaofang Wang, Haiyan Wang, Xiaozhou He, Shunxian Zhang, Shuhui Xu, Yang Yu, Xingbing Jia, Maolin Wang, Aiqiang Xu, Wei Ma, Minal M Amin, Stephanie R Bialek, Sheila C Dollard, Chengbin Wang
Congenital cytomegalovirus (CMV) infection is the leading viral cause of birth defects and developmental disabilities in developed countries. However, CMV seroprevalence and burden of congenital CMV infection are not well defined in China.Cohort of newborns from 5 birthing hospitals in 2 counties of Shandong Province, China, were enrolled from March 2011 to August 2013. Dried blood spots (DBS) and saliva were collected within 4 days after birth for IgG testing for maternal seroprevalence and real-time PCR testing for congenital CMV infection, respectively...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28148902/prevalence-and-time-trends-of-spina-bifida-in-fourteen-cities-located-in-the-liaoning-province-of-northeast-china-2006-2015
#8
Gen Ba, Qi-Jun Wu, Yan-Ling Chen, Yan-Hong Huang, Ting-Ting Gong
The present study sought to assess the time trends of spina bifida on the basis of cases identified by the Liaoning Birth Defects Registry in 14 cities from 2006 to 2015. We calculated the prevalence of spina bifida, percent and average change of time trends, and contribution rates of each city. Poisson regression model was used to find the line of best fit for spina bifida prevalence by year, with year as a continuous independent variable. From 2006 to 2015, a total of 2,029 spina bifida cases were identified from 3,248,954 live births (6...
January 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28143435/genetic-characterization-of-italian-patients-with-bardet-biedl-syndrome-and-correlation-to-ocular-renal-and-audio-vestibular-phenotype-identification-of-eleven-novel-pathogenic-sequence-variants
#9
Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Alessia Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D'Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovanbattista Capasso, Francesca Simonelli, Francesco Salvatore
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS. METHODS: We analyzed three common BBS genes, BBS1, BBS10 and BBS2, in 25 Italian patients fulfilling the clinical criteria of BBS...
February 1, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28140654/genome-wide-methylation-analysis-identifies-novel-cpg-loci-for-perimembranous-ventricular-septal-defects-in-human
#10
Kim Pj Wijnands, Jun Chen, Liming Liang, Michael Mpj Verbiest, Xihong Lin, Willem A Helbing, Adriana C Gittenberger-de Groot, Peter J van der Spek, André G Uitterlinden, Régine Pm Steegers-Theunissen
AIM: Congenital heart diseases are the most common birth defects worldwide and leading cause of infant mortality. The perimembranous ventricular septal defect is most prevalent. Epigenetics may provide an underlying mechanism of the gene-environment interactions involved. MATERIALS & METHODS: We examined epigenome-wide DNA methylation using the Illumina HumanMethylation450 BeadChip in 84 case children and 196 control children. RESULTS: We identified differential methylation of a CpG locus (cg17001566) within the PRDM16 gene after Bonferroni correction (p = 9...
January 31, 2017: Epigenomics
https://www.readbyqxmd.com/read/28101777/comorbidities-in-down-syndrome-livebirths-and-health-care-intervention-an-initial-experience-from-the-birth-defects-registry-in-southern-thailand
#11
Somchit Jaruratanasirikul, Wannee Limpitikul, Pathikan Dissaneevate, Paveena Booncharoen, Pongsak Tantichantakarun
BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder causing mental retardation with a worldwide average prevalence of 1-2 cases per 1000 births. This study aimed to determine the comorbidities associated with DS and the coverage of health care services and developmental interventions for DS livebirths in southern Thailand. METHODS: A total of 149 livebirth DS infants, recruited through the prospective birth defects registry system during 2009-2013 in 3 provinces in southern Thailand, were regularly followed-up every 3-6 months...
January 19, 2017: World Journal of Pediatrics: WJP
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
#12
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 13, 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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