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https://www.readbyqxmd.com/read/28087736/imputation-of-orofacial-clefting-data-identifies-novel-risk-loci-and-sheds-light-on-the-genetic-background-of-cleft-lip-%C3%A2-cleft-palate-and-cleft-palate-only
#1
Kerstin U Ludwig, Anne C Böhmer, John Bowes, Miloš Nikolić, Nina Ishorst, Niki Wyatt, Nigel L Hammond, Lina Gölz, Frederic Thieme, Sandra Barth, Hannah Schuenke, Johanna Klamt, Malte Spielmann, Khalid Aldhorae, Augusto Rojas-Martinez, Markus M Nöthen, Alvaro Rada-Iglesias, Michael J Dixon, Michael Knapp, Elisabeth Mangold
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals within this high-density dataset are enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087565/perturbation-of-retinoid-homeostasis-increases-malformation-risk-in-embryos-exposed-to-pregestational-diabetes
#2
Leo M Y Lee, Maran B W Leung, Rachel C Y Kwok, Yun-Chung Leung, Chi-Chiu Wang, Peter J McCaffery, Andrew J Copp, Alisa S W Shum
Pregestational diabetes is highly associated with increased risk of birth defects. However, factors that can increase or reduce expressivity and penetrance of malformations in diabetic pregnancies remain poorly identified. All-trans retinoic acid (RA) plays crucial roles in embryogenesis. Here, we find that Cyp26a1, which encodes a key enzyme for catabolic inactivation of RA required for tight control of local RA concentrations, is significantly down-regulated in embryos of diabetic mice. Embryonic tissues expressing Cyp26a1 show reduced efficiency of RA clearance...
January 13, 2017: Diabetes
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
#3
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/28081210/mutations-in-hyal2-encoding-hyaluronidase-2-cause-a-syndrome-of-orofacial-clefting-and-cor-triatriatum-sinister-in-humans-and-mice
#4
Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza
Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutations in the HYAL2 gene as a cause of syndromic orofacial clefting. HYAL2, encoding hyaluronidase 2, degrades extracellular hyaluronan, a critical component of the developing heart and palatal shelf matrix...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28079409/promoting-awareness-of-neonatal-menstruation
#5
Paola Bianchi, Giuseppe Benagiano, Ivo Brosens
Neonatal uterine bleeding (NUB) has been carefully studied in the past through case reports, small series, clinical cohort studies, pathology investigations of fetal and neonatal. Following a historical recount, this review summarizes biological mechanisms conditioning NUB, starting from the persistence till birth of an 'ontogenetic progesterone resistance' (OPR), causing decreased responsiveness of target tissues to bioavailable progesterone. Several pregnancy-related conditions, such as preeclampsia, fetal growth restriction, prematurity, post-maturity and even Rhesus or ABO incompatibility, influence the occurrence of NUB...
January 12, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28079045/hernia-of-the-umbilical-cord-associated-with-a-patent-omphalomesenteric-duct
#6
M Raicevic, I Filipovic, S Sindjic-Antunovic
Congenital hernia of the cord is a different type of ventral abdominal wall defect in which the bowel usually herniates into the base of normally inserted umbilical cord through a patent umbilical ring. It is rare congenital anomaly with incidence of 1 in 5000. Although it was described as a distinct entity since 1920s it is often misdiagnosed as a small omphalocele. We present an unusal case of term male newborn with umbilical cord hernia associated with patent omphalomesenteric duct. The diagnose was made after birth despite antenatal ultrasound scans and it is managed successfully with uneventful recovery...
January 2017: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/28074423/effectiveness-of-risk-evaluation-and-mitigation-strategies-rems-for-lenalidomide-and-thalidomide-patient-comprehension-and-knowledge-retention
#7
Nancy A Brandenburg, Robert Bwire, John Freeman, Florence Houn, Paul Sheehan, Jerome B Zeldis
INTRODUCTION: The effectiveness of patient education activities conducted within the lenalidomide and thalidomide risk evaluation and mitigation strategies (REMS) programs was evaluated by measuring understanding of serious risk and safe-use messages. METHODS: Results from mandatory knowledge, attitude, and behavior surveys and voluntary patient surveys completed between June 2012 and June 2013 were analyzed, and responses to questions relating to compliance with birth control measures and understanding of safe-use messages are presented by patient risk category...
January 10, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28070660/treatment-options-for-hyperemesis-gravidarum
#8
REVIEW
Amy Abramowitz, Emily S Miller, Katherine L Wisner
Hyperemesis gravidarum (HG) is a severe and prolonged form of nausea and/or vomiting during pregnancy. HG affects 0.3-2% of pregnancies and is defined by dehydration, ketonuria, and more than 5% body weight loss. Initial pharmacologic treatment for HG includes a combination of doxylamine and pyridoxine. Additional interventions include ondansetron or dopamine antagonists such as metoclopramide or promethazine. The options are limited for women who are not adequately treated with these medications. We suggest that mirtazapine is a useful drug in this context and its efficacy has been described in case studies...
January 9, 2017: Archives of Women's Mental Health
https://www.readbyqxmd.com/read/28069986/mechanisms-involved-in-porcine-early-embryo-survival-following-ethanol-exposure
#9
Florence Pagé-Larivière, Céline Campagna, Marc-André Sirard
Alcohol consumption during pregnancy is still a cause of preventable birth defects and developmental disabilities. However, little is known about the impact of ethanol on preimplantation embryos and the molecular mechanisms involved. We aimed to determine the toxicogenomic impacts and the mechanisms involved in preimplantation embryonic survival following 0.2% ethanol exposure in porcine embryos. Gene expression changes were measured with a porcine embryo specific microarray and confirmed by RT-qPCR. Compared to control, ethanol exposure led to a 43% decrease in blastocyst rate and activated pathways associated with oxidative stress and nervous system damage, such as TP53 and TGF...
January 9, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28069795/intraflagellar-transport-88-ift88-is-crucial-for-craniofacial-development-in-mice-and-is-a-candidate-gene-for-human-cleft-lip-and-palate
#10
Hua Tian, Jifan Feng, Jingyuan Li, Thach-Vu Ho, Yuan Yuan, Yang Liu, Frederick Brindopke, Jane C Figueiredo, William Magee, Pedro A Sanchez-Lara, Yang Chai
Ciliopathies are pleiotropic human diseases resulting from defects of the primary cilium, and these patients often have cleft lip and palate. IFT88 is required for the assembly and function of the primary cilia, which mediate the activity of key developmental signaling pathways. Through whole exome sequencing of a family of three affected siblings with isolated cleft lip and palate, we discovered that they share a novel missense mutation in IFT88 (c.915G>C, p.E305D), suggesting this gene should be considered a candidate for isolated orofacial clefting...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28069701/loss-of-axin2-results-in-impaired-heart-valve-maturation-and-subsequent-myxomatous-valve-disease
#11
Alexia Hulin, Vicky Moore, Jeanne M James, Katherine E Yutzey
AIMS: Myxomatous valve disease (MVD) is the most common aetiology of primary mitral regurgitation. Recent studies suggest that defects in heart valve development can lead to heart valve disease in adults. Wnt/β-catenin signalling is active during heart valve development and has been reported in human MVD. The consequences of increased Wnt/β-catenin signalling due to Axin2 deficiency in postnatal valve remodelling and pathogenesis of MVD were determined. METHODS AND RESULTS: To investigate the role of Wnt/β-catenin signalling, we analysed heart valves from mice deficient in Axin2 (KO), a negative regulator of Wnt/β-catenin signalling...
January 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28067585/folic-acid-education-for-hispanic-women-the-promotora-de-salud-model
#12
Alina L Flores, Jennifer Isenburg, Christina L Hillard, Leslie deRosset, Lisa Colen, Troy Bush, Cara T Mai
BACKGROUND: Although rates of neural tube defects (NTDs) have declined in the United States since fortification, disparities still exist with Hispanic women having the highest risk of giving birth to a baby with a NTD. The Promotora de Salud model using community lay health workers has been shown to be an effective tool for reaching Hispanics for a variety of health topics; however, literature on its effectiveness in folic acid interventions is limited. MATERIALS AND METHODS: An intervention using the Promotora de Salud model was implemented in four U...
January 9, 2017: Journal of Women's Health
https://www.readbyqxmd.com/read/28067163/hbv-coinfection-is-associated-with-reduced-cd4-response-to-antiretroviral-treatment-in-pregnancy
#13
Marco Floridia, Giulia Masuelli, Enrica Tamburrini, Arsenio Spinillo, Giuliana Simonazzi, Giovanni Guaraldi, Anna Maria Degli Antoni, Pasquale Martinelli, Vincenzo Portelli, Serena Dalzero, Marina Ravizza
OBJECTIVE: To evaluate the impact of Hepatitis B virus (HBV) coinfection on response to antiretroviral treatment in pregnant women with HIV. METHODS: Retrospective analysis of a large case series of pregnant women with HIV in Italy; outcome measures were CD4 changes, HIV viral load, and main pregnancy outcomes (preterm delivery, low birthweight, intrauterine growth restriction, mode of delivery, and major birth defects). RESULTS: Rate of HBV coinfection among 1462 pregnancies was 12...
January 9, 2017: HIV Clinical Trials
https://www.readbyqxmd.com/read/28063572/suppl%C3%A3-mentation-pr%C3%A3-conceptionnelle-en-acide-folique-multivitamines-pour-la-pr%C3%A3-vention-primaire-et-secondaire-des-anomalies-du-tube-neural-et-d-autres-anomalies-cong%C3%A3-nitales-sensibles-%C3%A3-l-acide-folique
#14
R Douglas Wilson
OBJECTIF: Offrir des renseignements à jour sur l'utilisation pré et postconceptionnelle d'acide folique par voie orale, avec ou sans supplément de multivitamines / micronutriments, aux fins de la prévention des anomalies du tube neural et d'autres anomalies congénitales. Ces renseignements aideront les médecins, les sages-femmes, les infirmières et les autres professionnels de la santé à contribuer aux efforts de sensibilisation des femmes quant à l'utilisation et aux posologies adéquates de la supplémentation en acide folique / multivitamines, avant et pendant la grossesse...
December 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28062416/blood-flow-patterns-underlie-developmental-heart-defects
#15
Madeline Midgett, Kent L Thornburg, Sandra Rugonyi
Although cardiac malformations at birth are typically associated with genetic anomalies, blood flow dynamics also play a crucial role in heart formation. However, the relationship between blood flow patterns in the early embryo and later cardiovascular malformation has not been determined. We used the chicken embryo model to quantify the extent to which anomalous blood flow patterns predict cardiac defects that resemble those in humans, and found that restricting either the inflow to the heart or the outflow led to reproducible abnormalities with a dose-response type relationship between blood flow stimuli and the expression of cardiac phenotypes...
January 6, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28061833/combining-adverse-pregnancy-and-perinatal-outcomes-for-women-exposed-to-antiepileptic-drugs-during-pregnancy-using-a-latent-trait-model
#16
Xuerong Wen, Abraham Hartzema, Joseph A Delaney, Babette Brumback, Xuefeng Liu, Robert Egerman, Jeffrey Roth, Rich Segal, Kimford J Meador
BACKGROUND: Application of latent variable models in medical research are becoming increasingly popular. A latent trait model is developed to combine rare birth defect outcomes in an index of infant morbidity. METHODS: This study employed four statewide, retrospective 10-year data sources (1999 to 2009). The study cohort consisted of all female Florida Medicaid enrollees who delivered a live singleton infant during study period. Drug exposure was defined as any exposure to Antiepileptic drugs (AEDs) during pregnancy...
January 6, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28057877/previous-miscarriages-and-gli2-are-associated-with-anorectal-malformations-in-offspring
#17
Romy van de Putte, Charlotte H W Wijers, Ivo de Blaauw, Carlo L M Marcelis, Cornelius E J Sloots, Alice S Brooks, Paul M A Broens, Nel Roeleveld, Loes F M van der Zanden, Iris A L M van Rooij
STUDY QUESTION: Are anorectal malformations (ARMs) associated with previous miscarriages or single nucleotide polymorphisms (SNPs) in the Bone Morphogenetic Protein 4 (BMP4) and GLI family zinc finger 2 (GLI2) genes? SUMMARY ANSWER: The SNP rs3738880 in GLI2 and miscarriages were associated with ARM, especially in patients with multiple congenital anomalies (MCA). WHAT IS KNOWN ALREADY: ARM are one of the most common birth defects of the gastrointestinal tract...
January 5, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28057137/-effect-of-air-pollution-on-pregnancy-outcome-of-women-at-reproductive-age-in-xi-an-2010-2013
#18
L L Wang, R H Bai, Q Zhang, H Yan
Objective: To compare the differences in the incidence of adverse pregnancy outcome in different area, and confirm if the incidence of adverse pregnancy outcomes is closely associated with air pollution. Methods: A cross-sectional study was conducted in the central urban area and the rural-urban area of Xi'an through a questionnaire survey conducted among the local reproductive women selected through multistage stratified random sampling during 2010-2013, all the reproductive women surveyed were in pregnancy or had definite pregnancy outcomes...
November 10, 2016: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28057123/-ptps-gene-analysis-and-prenatal-diagnosis-in-patients-with-6-pyruvoyl-tetra-hydropterin-synthase-deficiency
#19
N Liu, D H Zhao, X L Li, L X Cui, Q H Wu, M Jiang, X D Kong
Objective: To analyze the variations of PTPS gene in patients with suspected 6-pyruvoyl-tetra hydropterin synthase deficiency (PTPSD) and to make prenatal diagnosis in high-risk families. Methods: Chemiluminescence was used for phenylalanine detection in blood or dried blood spots.Patients with phenylalanine concentration over 120 μmol/L were detected by urine pterin analysis, and the activity of dihydropteridine reductase (DHPR) was detected. tetrahydrobiopterin loading tests were performed in suspected patients with abnormal urinary pterin profiles...
December 25, 2016: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28056841/thymus-activity-measured-by-t-cell-receptor-excision-circles-in-patients-with-different-severities-of-respiratory-syncytial-virus-infection
#20
Kiran Aftab Gul, Tonje Sonerud, Hans O Fjærli, Britt Nakstad, Tore Gunnar Abrahamsen, Christopher S Inchley
BACKGROUND: Respiratory syncytial virus (RSV) infection is an important cause of hospitalization in previously healthy infants. Immunological mechanisms predisposing infants to severe disease are poorly understood. Early biomarkers for disease severity may assist clinical decisions. We investigated T-cell receptor excision circles (TREC), episomal DNA made during thymic T-cell receptor rearrangement, and a marker for thymus activity, both during disease and in neonatal screening cards as a risk factor for RSV disease severity...
January 5, 2017: BMC Infectious Diseases
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