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Birth defects

Elizabeth M Kass, Pei Xin Lim, Hildur R Helgadottir, Mary Ellen Moynahan, Maria Jasin
The mammary gland undergoes significant proliferative stages after birth, but little is known about how the developmental changes impact DNA double-strand break (DSB) repair. Mutations in multiple genes involved in homology-directed repair (HDR), considered a particularly accurate pathway for repairing DSBs, are linked to breast cancer susceptibility, including BRCA2. Using reporter mice that express an inducible endonuclease, we find that HDR is particularly robust in mammary tissue during puberty and pregnancy, accounting for 34-40% of detected repair events, more than in other tissues examined...
October 25, 2016: Nature Communications
Catherine I Carty, Alison M Lee, Nathan A E Wienandt, Edward L Stevens, Derron A Alves, John A Browne, Jill Bryan, Eoin G Ryan, Joseph P Cassidy
BACKGROUND: An unusual presentation of skin disease was identified in two related neonatal Pedigree Limousin calves presented to University Veterinary Hospital, University College Dublin, following detailed post mortem examination a diagnosis of dermatosparaxis was made. Dermatosparaxis in animals or Ehlers Danlos Syndrome, which is the analogous condition seen in humans, is a connective tissue disorder characterised by extreme skin fragility. To the authors' knowledge this is the first report of such a diagnosis in the Limousin breed and the features of this lethal phenotype were severe in comparison to previous reports of the condition...
2016: Irish Veterinary Journal
E Azria
OBJECTIVES: To identify clinical situations in which progestatives used to reduce the risk of spontaneous preterm delivery and/or reduced adverse neonatal outcomes have been evaluated and identify situations in which 17OHPC or vaginal progesterone might be recommended. METHODS: Bibliographic searches were performed in the Medline and Cochrane databases with the use of a combination of keywords and text words related to "progesterone", "tocolysis", and "preterm labor" from 1956 through July 2016...
October 21, 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
Gavino Faa, Mirko Manchia, Roberta Pintus, Clara Gerosa, Maria Antonietta Marcialis, Vassilios Fanos
Starting from the Developmental Origins of Health and Disease (DOHaD) hypotheses proposed by David Barker, namely fetal programming, in the past years, there is a growing evidence of the major role played by epigenetic factors during the intrauterine life and the perinatal period. Furthermore, it has been assessed that these factors can affect the health status in infancy and even in adulthood. In this review, we focus our attention on the fetal programming of the brain, analyzing the most recent literature concerning the epigenetic factors that can influence the development of neuropsychiatric disorders such as bipolar disorders, major depressive disorders, and schizophrenia...
October 24, 2016: Birth Defects Research. Part C, Embryo Today: Reviews
Neil Vargesson, David R Hootnick
Limb malformations are amongst the most common and visible birth effects. Causes have been purported to include genetic aberrations as well as teratogens, such as thalidomide. Here we review the evidence for vascular disruption in the genesis of limb malformations through abnormal arterial transitioning and from events such as amniocentesis, uterine constriction, and through teratogen exposure. We use several clinical and experimental examples and highlight the need to understand more about the role the vascular system plays in the molecular mechanisms underpinning normal limb development...
October 20, 2016: Reproductive Toxicology
Breanna L Alman, Evan Coffman, Anna Maria Siega-Riz, Thomas J Luben
BACKGROUND: Water and water-based beverages constitute a major part of daily fluid intake for pregnant women, yet few epidemiologic studies have investigated the role of water consumption on birth outcomes. METHODS: We used data from the National Birth Defects Prevention Study to conduct a case-control study investigating associations between maternal water consumption during pregnancy and birth defects (BD). We used interview data on water consumption during the first trimester of pregnancy in 14,454 cases (major BDs n ≥ 50) and 5,063 controls...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Peter G Alexander, Karen L Clark, Rocky S Tuan
Limb congenital defects afflict approximately 0.6:1000 live births. In addition to genetic factors, prenatal exposure to drugs and environmental toxicants, represents a major contributing factor to limb defects. Examples of well-recognized limb teratogenic agents include thalidomide, warfarin, valproic acid, misoprostol, and phenytoin. While the mechanism by which these agents cause dymorphogenesis is increasingly clear, prediction of the limb teratogenicity of many thousands of as yet uncharacterized environmental factors (pollutants) remains inexact...
October 21, 2016: Birth Defects Research. Part C, Embryo Today: Reviews
Renee Y M Leduc, Parmveer Singh, Heather E McDermid
Neurulation, the early embryonic process of forming the presumptive brain and spinal cord, is highly complex and involves hundreds of genes in multiple genetic pathways. Mice have long served as a genetic model for studying human neurulation, and the resulting neural tube defects (NTDs) that arise when neurulation is disrupted. Because mice appear to show mostly single gene inheritance for NTDs and humans show multifactorial inheritance, mice sometimes have been characterized as a simpler model for the identification and study of NTD genes...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Helen J Sims-Williams, Hugh P Sims-Williams, Edith Mbabazi Kabachelor, James Fotheringham, Benjamin C Warf
OBJECTIVE Myelomeningocele (MM) is a neural tube defect complicated by neurological deficits below the level of the spinal lesion and, in many cases, hydrocephalus. Long-term survival of infants treated for MM in a low- and middle-income country has never been reported. This retrospective cohort study reports 10-year outcomes and factors affecting survival for infants undergoing MM repair at CURE Children's Hospital of Uganda. METHODS Patients were traced by telephone or home visit. Survival was estimated using the Kaplan-Meier method...
October 21, 2016: Journal of Neurosurgery. Pediatrics
Ádám Berniczei-Roykó, Jan-Hendrik Tappe, Axel Krinner, Tomasz Gredes, András Végh, Katona Gábor, Kamila Linkowska-Świdzińska, Ute Ulrike Botzenhart
BACKGROUND Cleft defects are one of the most frequent birth-deformities of the orofacial region and they are commonly associated with anomalies of the tooth structure, size, shape, formation, eruption, and tooth number. The aim of our study was to evaluate the prevalence, distribution, and potential association of combined hypodontia in cleft-affected patients with regard to all types of teeth in both jaws in the permanent dentition. MATERIAL AND METHODS This retrospective radiographic analysis included patients with various types of clefts treated orthodontically in the Department of Orofacial Orthopedics and Orthodontics at Heim Pàl Children's Hospital, Budapest...
October 21, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Arathi Kizhedath, Simon Wilkinson, Jarka Glassey
Biopharmaceuticals, monoclonal antibody (mAb)-based therapeutics in particular, have positively impacted millions of lives. MAbs and related therapeutics are highly desirable from a biopharmaceutical perspective as they are highly target specific and well tolerated within the human system. Nevertheless, several mAbs have been discontinued or withdrawn based either on their inability to demonstrate efficacy and/or due to adverse effects. Approved monoclonal antibodies and derived therapeutics have been associated with adverse effects such as immunogenicity, cytokine release syndrome, progressive multifocal leukoencephalopathy, intravascular haemolysis, cardiac arrhythmias, abnormal liver function, gastrointestinal perforation, bronchospasm, intraocular inflammation, urticaria, nephritis, neuropathy, birth defects, fever and cough to name a few...
October 20, 2016: Archives of Toxicology
L L Wang, R H Bai, Q Liu, Q Zhang, S N Dang, B B Mi, H Yan
Objective: To understand the incidence and epidemiological characteristics of adverse pregnancy outcome in Shaanxi province. Methods: General information of the study was derived from the prevalence and risk factors of birth defects in Shaanxi province in 2010-2013. Descriptive epidemiological method was used to analyze the data of adverse pregnancy outcome. Results: The overall incidence of adverse pregnancy outcome was 25.45% during 2010-2013 (26.84% in 2010, 26.11% in 2011, 24.96% in 2012 and 24.80% in 2013, respectively)...
October 10, 2016: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
M Schneider, I Schmeh, A Fruth, C Whybra-Trümpler, E Mildenberger
Monozygotic twins were previously regarded as "identical". By now an increasing number of case reports of monozygotic but discordant twins have been reported, and therefore discordance between monozygotic twins is being investigated intensively. We report a case of female preterm monozygotic twins who were discordant for fetal megacystis due to cloacal dysgenesis. Pregnancy was achieved after intracytoplasmatic sperm injection and transfer of 2 embryos. By the first trimester fetal megacystis with consecutive oligohydramnios and hypoplasia of the lungs was diagnosed...
October 2016: Zeitschrift Für Geburtshilfe und Neonatologie
Julie Reygner, Lydia Lichtenberger, Ghada Elmhiri, Samir Dou, Narges Bahi-Jaber, Larbi Rhazi, Flore Depeint, Veronique Bach, Hafida Khorsi-Cauet, Latifa Abdennebi-Najar
Increasing evidence indicates that chlorpyrifos (CPF), an organophosphorus insecticide, is involved in metabolic disorders. We assess the hypothesis whether supplementation with prebiotics from gestation to adulthood, through a modulation of microbiota composition and fermentative activity, alleviates CPF induced metabolic disorders of 60 days old offspring. 5 groups of Wistar rats, from gestation until weaning, received two doses of CPF pesticide: 1 mg/kg/day (CPF1) or 3.5 mg/kg/day (CPF3.5) with free access to inulin (10g/L in drinking water)...
2016: PloS One
Robson Azevedo Dutra, Adriana Cartafina Perez Boscollo
Background: The anorectal anomalies consist in a complex group of birth defects. Laparoscopic-assisted anorectoplasty improved visualization of the rectal fistula and the ability to place the pull-through segment within the elevator muscle complex with minimal dissection. There is no consensus on how the fistula should be managed. Aim: To evaluate the laparoscopic-assisted anorectoplasty and the treatment of the rectal urinary fistula by a bipolar sealing device...
July 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
Kamal Niaz, Mohammad Abdollahi
Zika virus (ZIKV) is a deadly flavivirus that has spread from Africa to Asia and European countries. The virus is associated with other viruses in the same genus or family, transmitted by the same mosquito species with known history of fatality. A sudden increase in the rate of infection from ZIKV has made it a global health concern, which necessitates close symptom monitoring, enhancing treatment options, and vaccine production. This paper reviewed current reports on birth defects associated with ZIKV, mode of transmission, body fluids containing the virus, diagnosis , possible preventive measures or treatments, and vaccine development...
October 18, 2016: Infectious Disorders Drug Targets
Zhangmin Tan, Yuzhu Yin, Jin Zhou, Lingling Wu, Chengfang Xu, Hongying Hou
This prospective study evaluated the viability of telbivudine for blocking mother-to-child transmission (MTCT) of hepatitis B virus (HBV) infection.Pregnant women positive for the hepatitis B surface antigen began telbivudine treatment before 14 weeks of gestation (i.e., early), between 14 and 28 weeks of gestation (late), or not at all (control). In the late-treatment group, 55 women terminated telbivudine therapy within puerperium. All neonates underwent routine hepatitis B immunoglobulin plus vaccination...
October 2016: Medicine (Baltimore)
M J Davies, A R Rumbold, J L Marino, K Willson, L C Giles, M J Whitrow, W Scheil, L J Moran, J G Thompson, M Lane, V M Moore
OBJECTIVE: To assess the contribution of maternal factors to major birth defects after in vitro fertilisation (IVF), intracytoplasmic sperm injection (ICSI), and natural conception. DESIGN: Retrospective cohort study in South Australia for the period January 1986 to December 2002. SETTING: A whole of population study. POPULATION: A census of all IVF and ICSI linked to registries for births, pregnancy terminations, and birth defects (diagnosed before a child's fifth birthday)...
October 17, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Niels B Matthiesen, Tine Henriksen, Peter Agergaard, William J Gaynor, Cathrine C Bach, Vibeke Hjortdal, John Ostergaard
BACKGROUND: -Congenital heart defects (CHD) have been associated with placental anomalies. The nature and the consequences of this association remain poorly understood. We aimed to estimate the associations between all major subtypes of CHD and placental weight at birth as well as the association between placental weight and measures of both overall and cerebral growth in fetuses with CHD. METHODS: -We included all 924,422 liveborn Danish singletons, 1997-2011. CHD was present in 7,569...
October 14, 2016: Circulation
Adrienne Wang, Jacob Mouser, Jason Pitt, Daniel Promislow, Matt Kaeberlein
Pediatric mitochondrial disorders are a devastating category of diseases caused by deficiencies in mitochondrial function. Leigh Syndrome (LS) is the most common of these diseases with symptoms typically appearing within the first year of birth and progressing rapidly until death, usually by 6-7 years of age. Our lab has recently shown that genetic inhibition of the mechanistic target of rapamycin (TOR) rescues the short lifespan of yeast mutants with defective mitochondrial function, and that pharmacological inhibition of TOR by administration of rapamycin significantly rescues the shortened lifespan, neurological symptoms, and neurodegeneration in a mouse model of LS...
October 11, 2016: Oncotarget
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