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Prevalence of birth defects

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https://www.readbyqxmd.com/read/28817352/arhgap29-mutation-is-associated-with-abnormal-oral-epithelial-adhesions
#1
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
#2
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
#3
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 (HPV) vaccine 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 quadrivalent HPV vaccine 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 quadrivalent HPV vaccine 4-18 months before their last menstrual period...
August 4, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28796676/sleep-disorder-diagnosis-during-pregnancy-and-risk-of-preterm-birth
#4
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...
August 4, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28796462/malformations-surveillance-comparison-between-findings-at-birth-and-age-1-year
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28754189/progress-and-works-in-progress-update-on-flavivirus-vaccine-development
#10
REVIEW
Matthew H Collins, Stefan W Metz
Most areas of the globe are endemic for at least one flavivirus, putting billions at risk for infection. This diverse group of viral pathogens causes a range of manifestations in humans from asymptomatic infection to hemorrhagic fever to encephalitis to birth defects and even death. Many flaviviruses are transmitted by mosquitos and have expanded in geographic distribution in recent years, with dengue virus being the most prevalent, infecting approximately 400 million people each year. The explosive emergence of Zika virus in Latin America in 2014 refocused international attention on this medically important group of viruses...
July 25, 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/28742214/association-of-combined-gif290t-c-heterozygous-mutation-fut2-secretor-variant-with-neural-tube-defects
#11
R M Guéant-Rodriguez, C Chery, B-M Fofou-Caillierez, J Voirin, B Foliguet, T Josse, D Tramoy, F François, J-L Guéant
Folate and vitamin B12 are needed for the proper embryo-fetal development possibly through their interacting role in the one-carbon metabolism. Folate fortification reduces the prevalence of complex birth defects, and more specifically neural tube defects (NTD). GIF and FUT2 are two genes associated with the uptake and blood level of vitamin B12. We evaluated GIF and FUT2 as predictors of severe birth defects, in 181 aborted fetuses compared to 375 healthy newborns. The GIF290C allele frequency was estimated to 0...
July 25, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28722355/selected-birth-defects-among-males-following-the-united-states-terrorist-attacks-of-11-september-2001
#12
Parvati Singh, Wei Yang, Gary M Shaw, Ralph Catalano, Tim A Bruckner
BACKGROUND: The terrorist attacks of 11 September 2001 (hereafter referred to as 9/11) preceded an increase in male fetal deaths and reduced male live births among exposed gestational cohorts across several geographic locations in the United States, including California. We analyze whether the extreme stressor of 9/11 may have selected against frail males in utero by testing if the prevalence of male births with selected defects in California fell among cohorts exposed to the stressor during gestation...
July 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28722320/congenital-unilateral-renal-agenesis-prevalence-prenatal-diagnosis-associated-anomalies-data-from-two-birth-defect-registries
#13
Hélène Laurichesse Delmas, Monique Kohler, Bérénice Doray, Didier Lémery, Christine Francannet, Jocelyn Quistrebert, Cécile Marie, Isabelle Perthus
BACKGROUND: The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secondary objectives were to describe the evolution of sensitivity of prenatal diagnosis over time and the different forms of URA (isolated and associated with other malformations) detected up to 1 year...
July 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28704835/high-prevalence-of-pulmonary-hypertension-complicates-the-care-of-infants-with-omphalocele
#14
Shandee Hutson, Joanne Baerg, Douglas Deming, Shawn D St Peter, Andrew Hopper, Donna A Goff
BACKGROUND: Omphalocele is one of the most common abdominal wall defects. Many newborn infants born with omphalocele present with significant respiratory distress at birth, requiring mechanical ventilatory support, and have clinical evidence of pulmonary hypertension. Little information exists on the prevalence of and risk factors associated with pulmonary hypertension in this cohort of infants. OBJECTIVES: To describe the prevalence of and risk factors associated with pulmonary hypertension among infants with omphalocele...
July 14, 2017: Neonatology
https://www.readbyqxmd.com/read/28701846/rare-presentation-of-congenital-diaphragmatic-hernia-in-a-sexagenarian
#15
C Danny Darlington, G Fatima Shirly Anitha
Congenital diaphragmatic hernia (CDH) usually presents in the neonatal period, and about 10% of reported cases occur in adults. The most common type is Bochdalek's hernia, which occurs through a defect in the posterolateral portion of the diaphragm with an estimated prevalence of 1 in 2500 live births. CDH in adults presents with gastrointestinal or respiratory symptoms, which can be acute or intermittent. We report a case of CDH diagnosed in a 55-year-old man, who presented with acute onset of chest pain and dyspnea with insignificant past history...
June 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28696875/status-and-challenges-of-care-in-africa-for-adults-with-congenital-heart-defects
#16
Frank Edwin, Liesl Zühlke, Heba Farouk, Ana Olga Mocumbi, Kow Entsua-Mensah, Desrie Delsol-Gyan, Fidelia Bode-Thomas, Andre Brooks, Blanche Cupido, Mark Tettey, Ernest Aniteye, Martin M Tamatey, Kofi B Gyan, Jacques Cabral Tantchou Tchoumi, Mohamed-Adel Elgamal
The 54 countries in Africa have an estimated total annual congenital heart defect (CHD) birth prevalence of 300,486 cases. More than half (51.4%) of the continental birth prevalence occurs in only seven countries. Congenital heart disease remains primarily a pediatric health issue in Africa because of the deficient health-care systems: the adults with CHD made up just 10% of patients with CHD in Ghana, and 13.7% of patients with CHD presenting for surgery in Mozambique. With Africa's population projected to double in the next 35 years, the already deficient health systems for CHD care will suffer unbearable strain unless determined and courageous action is undertaken by the African leaders...
July 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28690757/minimal-change-disease-in-horseshoe-kidney
#17
Yosr Chaabouni, Rahma Guesmi, Yosr Hentati, Khaoula Kammoun, Mohamed Ben Hmida, Zeineb Mnif, Tahya Boudawara, Jamil Hachicha
The horseshoe kidney is a frequent urological birth defect. The most frequent complications are urinary tract infections, stones and hydronephrosis. The occurrence of glomerular disease in horseshoe kidney is rare. Therefore, we report the first case of minimal change disease occurring in a patient with horseshoe kidney in literature. A 22-year-old Caucasian man without personal or family medical history admitted to the pneumology department for a pulmonary artery embolism. In presence of a generalized oedema, a biological assessment was performed yielding intense nephrotic syndrome with urine protein excretion 22g/day...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28688996/zika-virus-dynamics-when-does-sexual-transmission-matter
#18
Ondrej Maxian, Anna Neufeld, Emma J Talis, Lauren M Childs, Julie C Blackwood
The Zika virus (ZIKV) has captured worldwide attention with the ongoing epidemic in South America and its link to severe birth defects, most notably microcephaly. ZIKV is spread to humans through a combination of vector and sexual transmission, but the relative contribution of these transmission routes to the overall epidemic remains largely unknown. Furthermore, a disparity in the reported number of infections between males and females has been observed. We develop a mathematical model that describes the transmission dynamics of ZIKV to determine the processes driving the observed epidemic patterns...
June 29, 2017: Epidemics
https://www.readbyqxmd.com/read/28660654/teleultrasound-how-accurate-are-we
#19
Nader Z Rabie, Adam T Sandlin, Kevin A Barber, Songthip Ounpraseuth, Wendy Nembhard, Everett F Magann, Curtis Lowery
OBJECTIVES: Ultrasound serves an important role in the prenatal diagnosis of fetal structural anomalies. Recently, there has been increased use of teleultrasound protocols. We aimed to evaluate the sensitivity and accuracy of teleultrasound. METHODS: We conducted an Institutional Review Board-approved retrospective cohort study determining the sensitivity and accuracy of teleultrasound. In addition, we evaluated the number of ultrasound examinations required to complete an anatomic survey...
June 29, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28651397/-study-on-relationship-between-mother-s-animal-sourced-food-intake-during-pregnancy-and-neonate-birth-weight
#20
H Yan, S N Dang, B B Mi, P F Qu, L Zhang, H L Wang, Y X Bi, L X Zeng, Q Li, H Yan
Objective: To explore the effect of maternal animal sourced food intake during pregnancy on neonate birth weight and provide scientific basis for guiding the reasonable diet intake in pregnant women and increasing neonate birth weight. Methods: Data were derived from a cross-sectional project of"the prevalence and risk factors of birth defects in Shaanxi province" , which were conducted in 30 counties in Shaanxi province from July to November in 2013. A stratified multistage random sampling method was used to select women who were pregnant between January 2010 and December 2013 for a random semi-quantitative food frequency questionnaire survey to collect the data on the frequency and amount of food consumption on animal protein sources and the data of newborns...
May 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
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