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Congenital birth defects

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https://www.readbyqxmd.com/read/28446969/micrornas-pleiotropic-players-in-congenital-heart-disease-and-regeneration
#1
REVIEW
Sarah C Hoelscher, Stefanie A Doppler, Martina Dreßen, Harald Lahm, Rüdiger Lange, Markus Krane
Congenital heart disease (CHD) is the leading cause of infant death, affecting approximately 4-14 live births per 1,000. Although surgical techniques and interventions have improved significantly, a large number of infants still face poor clinical outcomes. MicroRNAs (miRs) are known to coordinately regulate cardiac development and stimulate pathological processes in the heart, including fibrosis or hypertrophy and impair angiogenesis. Dysregulation of these regulators could therefore contribute (I) to the initial development of CHD and (II) at least partially to the observed clinical outcomes of many CHD patients by stimulating the aforementioned pathways...
March 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28446798/novel-missense-mutation-in-dll4-in-a-japanese-sporadic-case-of-adams-oliver-syndrome
#2
Miwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, Yuya Ouchi, Daisuke Kurokawa, Keiji Yamana, Risa Harada, Kandai Nozu, Yoshitada Sakai, Sushil K Mishra, Yoshiki Yamaguchi, Ichiro Morikoka, Tatsushi Toda, Hiroki Kurahashi, Kazumoto Iijima
Adams-Oliver syndrome (AOS, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as congenital heart defects. The etiology of this syndrome has remained largely unknown but defective Notch signaling during vascular formation has been suggested. Here we describe a sporadic Japanese newborn case with clinically diagnosed AOS. Trio whole-exome sequencing identified a de novo, novel, heterozygous missense mutation in the Delta-like 4 ligand gene (DLL4 c...
April 27, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28441821/-assessment-of-undiagnosed-critical-congenital-heart-disease-before-discharge-from-the-maternity-hospital
#3
Q M Zhao, F Liu, L Wu, M Ye, B Jia, X J Ma, G Y Huang
Objective: Undiagnosed critical congenital heart disease (CCHD) was assessed before discharge from maternity hospital.Basic information was provided for screening CCHD in the early neonatal stage.Chi-squared test was used for comparison of categorical variables(detection rate of different types of CCHD). Method: A retrospective cohort study was conducted in neonates with CCHD who were admitted to Children's Hospital of Fudan University between 1 January 2012 and 31 December 2015. For comparing with the previously reported undiagnosed rate of CCHD at discharge, CCHD was defined as all duct dependent congenital heart disease (DDCHD) and any cyanotic CHD that required early surgery...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28438836/a-wnt-notch-pax7-signaling-network-supports-tissue-integrity-in-tongue-development
#4
Xiao-Jing Zhu, Xueyan Yuan, Min Wang, Yukun Fang, Yudong Liu, Xiaoyun Zhang, Xueqin Yang, Yan Li, Jianying Li, Feixue Li, Zhong-Min Dai, Mengsheng Qiu, Ze Zhang, Zunyi Zhang
The tongue is one of the major structures involved in human food intake and speech. Tongue malformations such as aglossia, microglossia, and ankyloglossia are congenital birth defects, greatly affecting individuals' quality of life. However, the molecular basis of the tissue-tissue interactions that ensure tissue morphogenesis to form a functional tongue remains largely unknown. Here we show that ShhCre-mediated epithelial deletion of Wntless (Wls), the key regulator for intracellular Wnt trafficking, leads to lingual hypoplasia in mice...
April 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28434134/pregnancy-outcomes-following-in-utero-exposure-to-lamotrigine-a-systematic-review-and-meta-analysis
#5
REVIEW
Gali Pariente, Tom Leibson, Talya Shulman, Thomasin Adams-Webber, Eran Barzilay, Irena Nulman
INTRODUCTION: Lamotrigine is used in pregnancy to control epilepsy and mood disorders. The reproductive safety of this widely used drug remains undefined and may represent a significant public health concern. OBJECTIVE: We aimed to perform a systematic review and meta-analysis of existing knowledge related to malformation rates and maternal-neonatal outcomes after in utero exposure to monotherapy with lamotrigine. METHODS: Relevant studies were identified through systematic searches conducted in MEDLINE (Ovid), Embase (Ovid), CENTRAL (Ovid), and Web of Science (Thomson Reuters) from database inception to July 2016; no language or date restrictions were applied...
April 22, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28428000/selected-oxidative-stress-biomarkers-in-antenatal-diagnosis-as-11-14-gestational-weeks
#6
Marek Pietryga, Piotr Dydowicz, Kinga Toboła, Marta Napierała, Izabela Miechowicz, Anna Gąsiorowska, Maciej Brązert, Ewa Florek
The primary objective in modern obstetrics and prenatal diagnosis is to predict risks of congenital abnormalities. The aim of the research was to assess the correlation between selected oxidative stress biomarkers with the risk of foetal chromosomal aberration evaluated at the first trimester screening. A series of studies show that balanced free radical activity and oxidative homeostasis are essential for proper bodily growth and function. Reactive oxygen species (ROS) may be one of the factors associated with disruption of cell cycle and tissue development, thus leading to developmental abnormalities...
April 18, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28425218/recurrence-of-congenital-heart-defects-among-siblings-a-nationwide-study
#7
Kristoffer Brodwall, Gottfried Greve, Elisabeth Leirgul, Grethe S Tell, Stein E Vollset, Nina Øyen
Congenital heart defects (CHD) constitute the largest group of congenital malformations. In most families, only one person has CHD; however, the risk of CHD increases for children born into families already affected. In this study, all births from 1994 through 2009 were identified in the Medical Birth Registry of Norway, including supplemental information on CHD from clinical and administrative registers, as part of the CVDNOR project. By using the unique personal identification number of each parent we were able to link 16,078 pairs of twins, 445,584 pairs of full siblings, and 106,840 pairs of half-siblings...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28407219/multiple-micronutrient-supplementation-for-women-during-pregnancy
#8
REVIEW
Batool A Haider, Zulfiqar A Bhutta
BACKGROUND: Multiple-micronutrient (MMN) deficiencies often coexist among women of reproductive age in low- to middle-income countries. They are exacerbated in pregnancy due to the increased demands, leading to potentially adverse effects on the mother and developing fetus. Though supplementation with MMNs has been recommended earlier because of the evidence of impact on pregnancy outcomes, a consensus is yet to be reached regarding the replacement of iron and folic acid supplementation with MMNs...
April 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28403053/zika-virus-infection-associated-with-congenital-birth-defects-in-a-hiv-infected-pregnant-woman
#9
Esaú Custódio João, Maria Isabel Fragoso da Silveira Gouvea, Maria de Lourdes Benamor Teixeira, Wallace Mendes-Silva, Juliana Silva Esteves, Edwiges Motta Santos, Leandro Augusto Ledesma, Ana Paula Gomes, Maria Letícia Cruz
We describe a case of Zika virus infection acquired during the first trimester in a HIV-infected pregnant woman that led to multiple fetal malformations and fetal demise in Rio de Janeiro, Brazil.
May 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28402153/maternal-fetal-transmission-of-zika-virus-routes-and-signals-for-infection
#10
Bin Cao, Michael S Diamond, Indira U Mysorekar
The emerging mosquito-borne virus, Zika virus (ZIKV), has been causally associated with adverse pregnancy and neonatal outcomes, including miscarriage, microcephaly, serious brain abnormalities, and other birth defects indicative of a congenital ZIKV syndrome. In this review, we highlight work from human and animal studies on routes of infection in pregnancy that lead to adverse fetal and neonatal outcomes. A number of innate and adaptive immune mechanisms and signaling molecules that may have key roles in ZIKV infection pathogenesis are discussed along with putative viral entry pathways...
April 12, 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28402072/congenital-lung-agenesis-incidence-and-outcome-in-the-north-of-england
#11
Matthew Thomas, Nic Robertson, Nicola Miller, Judith Rankin, Michael McKean, Malcom Brodlie
BACKGROUND: Unilateral lung agenesis is an uncommon congenital abnormality, with a lack of reported accurate incidence estimates. Prognosis is also uncertain, with older literature reporting poor outcomes. METHODS: The North of England register of congenital anomalies (Northern Congenital Abnormality Survey) records cases of congenital anomalies to mothers' resident in the region. We used the register to identify all patients with congenital lung agenesis born between 2004 and 2013 to calculate an accurate incidence estimate and report clinical outcomes with contemporary management...
April 12, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28402064/use-of-psychotropic-medications-and-visits-to-psychiatrists-and-psychologists-among-individuals-with-nonsyndromic-oral-clefts-a-population-based-cohort-study
#12
Dorthe Almind Pedersen, Ida Hageman, George L Wehby, Kaare Christensen
BACKGROUND: Oral clefts (OCs) are among the most common congenital malformations and can have a large impact on the life of the affected individual. Research findings regarding the psychological and psychosocial consequences of OC are inconclusive. METHODS: Using Danish nationwide registers, we investigated redeemed prescriptions of psychotropic medication during 1996 to 2012 and visits to psychiatrists and psychologists during 1996 to 2011 among individuals born with nonsyndromic OC in Denmark between 1936 and 2009 and a comparison cohort of individuals without OC...
April 12, 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
#13
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/28398707/fetal-exposure-to-montelukast-and-congenital-anomalies-a-population-based-study-in-denmark
#14
Clara Cavero-Carbonell, Anne Vinkel-Hansen, Mª José Rabanque-Hernández, Carmen Martos, Ester Garne
BACKGROUND: The objective was to study pregnancy outcomes between groups of Danish women, with pregnancy ending between 1998 and 2009, according to their exposure to montelukast. METHODS: Cross-sectional observational study in Danish women, selecting live births and stillbirths (Birth Registry) and spontaneous abortions and induced terminations (Patient Registry). Montelukast exposure was obtained from the Prescription Registry (ATC code R03DC03). Exposure period was from 3 months before the last menstrual period until the end of the first trimester...
April 3, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398685/parvovirus-b19-infection-during-pregnancy-and-risks-to-the-fetus
#15
REVIEW
Asher Ornoy, Zivanit Ergaz
Parvovirus B19 infects 1 to 5% of pregnant women, generally with normal pregnancy outcomes. During epidemics, the rate of infection is higher. Major congenital anomalies among offspring of infected mothers are rare, as the virus does not appear to be a significant teratogen. However, parvovirus B19 infection may cause significant fetal damage, and in rare cases, brain anomalies and neurodevelopmental insults, especially if infection occurs in the first 20 weeks of pregnancy. Parvovirus B19 is also an important cause of fetal loss, especially in the second half of pregnancy when spontaneous fetal loss from other causes is relatively rare...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398684/studying-the-effects-of-emerging-infections-on-the-fetus-experience-with-west-nile-and-zika-viruses
#16
Sonja A Rasmussen, Dana M Meaney-Delman, Lyle R Petersen, Denise J Jamieson
Emerging infections have the potential to produce adverse effects on the pregnant woman or her fetus; however, studying these effects is often challenging. We review our experiences with investigating the prenatal effects of two mosquito-borne infections that emerged in the past 2 decades, West Nile virus (WNV) and Zika virus. Concerns regarding teratogenicity were raised about both viruses; Zika virus has been confirmed to be teratogenic, while WNV appears not to increase the risk for adverse outcomes, although teratogenicity has not been excluded...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398683/update-on-syphilis-and-pregnancy
#17
REVIEW
Michael E Tsimis, Jeanne S Sheffield
While the origins of syphilis remain unknown, it has long been recognized as an infectious entity with complex pathophysiology. In this review, we highlighted the epidemiology and risk factors associated with syphilis. The incidence of syphilis in most populations showed a consistent upward trend until the 1940s with the introduction of penicillin as the preferred treatment. The emergence of congenital syphilis and vertical transmission has been a direct result of heterosexual syphilis transmission. We also explore the microbiology and pathogenesis of Treponema pallidum as it directly correlates with its route of transmission and infectivity...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398680/cytomegalovirus-infection-in-pregnancy
#18
REVIEW
Nicole L Davis, Caroline C King, Athena P Kourtis
Cytomegalovirus (CMV) is a DNA herpesvirus that is common worldwide. The two known main sources of primary CMV infection during pregnancy are through sexual activity and contact with young children. Primary infection occurs in approximately 1 to 4% of pregnancies, and is mostly asymptomatic in immunocompetent adults. However, primary infection may manifest as a mild mononucleosis or flu-like syndrome with persistent fever and fatigue. CMV can be transmitted from mother-to-child in utero, intrapartum, or during breastfeeding...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398667/costs-mortality-and-hospital-usage-in-relation-to-prenatal-diagnosis-in-d-transposition-of-the-great-arteries
#19
Nelangi M Pinto, Richard Nelson, Lorenzo Botto, Michael D Puchalski, Sergey Krikov, Jaewhan Kim, Norman J Waitzman
BACKGROUND: The impact of prenatal diagnosis of d-transposition of the great arteries (dTGA) on health-care usage is largely unknown. We evaluated a population-based cohort to assess costs, mortality and inpatient encounters by whether dTGA was prenatally diagnosed or not. METHODS: The dTGA cases (born 1997-2011) identified at the Utah Birth Defect Network, which includes data on timing of diagnosis, were linked to statewide inpatient discharge data. We excluded preterm cases or cases with additional major heart defects...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398666/association-between-a-maternal-history-of-miscarriages-and-birth-defects
#20
Hebe Campaña, Monica Rittler, Juan A Gili, Fernando A Poletta, Mariela S Pawluk, Lucas G Gimenez, Viviana R Cosentino, Eduardo E Castilla, Jorge S López Camelo
BACKGROUND: Some studies, mainly in the older literature, observed a significant association between miscarriages and birth defects (BDs) occurring in the same sibship. However, few studies examined the BD/miscarriage relationship in depth. In addition nothing has been added to the underlying mechanisms possibly linking both events. The purpose of this work was to identify specific BDs associated with maternal miscarriages. In particular, it examined whether the risk depended on the number of losses, and to suggest the existence of specific factors for each BD/miscarriage association observed...
March 1, 2017: Birth Defects Res
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