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Prevalence of birth defects

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https://www.readbyqxmd.com/read/29768619/prevalence-and-factors-associated-with-enamel-defects-among-preschool-children-from-a-southeastern-city-in-brazil
#1
Luciana Fonseca Pádua Tourino, Patrícia Maria Zarzar, Patrícia Corrêa-Faria, Saul Martins Paiva, Miriam Pimenta Parreira do Vale
This study sought to determine the prevalence of developmental defects of enamel (DDE) among preschool children and investigate associations with sociodemographic and socioeconomic factors and weight status. A cross-sectional study was conducted with 118 children aged 3 to 5 years. Data were collected via clinical examinations and a self-administered questionnaire completed by the parents. The diagnosis of DDE was performed using the modified DDE Index. Information on socioeconomic indicators (mother's schooling, monthly income per capita), child's sex and age, and age of mother at the birth of the child were obtained by questionnaire...
May 2018: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/29767673/modeling-the-impact-of-folic-acid-fortification-and-supplementation-on-red-blood-cell-folate-concentrations-and-predicted-neural-tube-defect-risk-in-the-united-states-have-we-reached-optimal-prevention
#2
Krista S Crider, Yan Ping Qi, Owen Devine, Sarah C Tinker, Robert J Berry
Background: The US CDC and the Institute of Medicine recommend that women capable of becoming pregnant consume ≥400 µg synthetic folic acid/d to prevent neural tube defects (NTDs). The United States has 3 sources of folic acid: fortified enriched cereal grain products (ECGPs), fortified ready-to-eat (RTE) cereals, and dietary supplements. Objective: Our objectives were as follows: 1) to estimate the usual daily folic acid intake and distributions of red blood cell (RBC) folate concentrations among women consuming folic acid from different sources; 2) to assess the usual daily total folic acid intake associated with optimal RBC folate concentrations for NTD prevention; 3) to predict NTD prevalence; and 4) to estimate the number of preventable folate-sensitive NTDs...
May 14, 2018: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#3
Nicholas Ekow Thomford, Kevin Dzobo, Nana Akyaa Yao, Emile Chimusa, Jonathan Evans, Emmanuel Okai, Paul Kruszka, Maximilian Muenke, Gordon Awandare, Ambroise Wonkam, Collet Dandara
Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated...
May 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29761639/nongenetic-risk-factors-for-holoprosencephaly-an-updated-review-of-the-epidemiologic-literature
#4
April D Summers, Jennita Reefhuis, Joanna Taliano, Sonja A Rasmussen
Holoprosencephaly (HPE) is a major structural birth defect of the brain that occurs in approximately 1 in 10,000 live births. Although some genetic causes of HPE are known, a substantial proportion of cases have an unknown etiology. Due to the low birth prevalence and rarity of exposure to many potential risk factors for HPE, few epidemiologic studies have had sufficient sample size to examine risk factors. A 2010 review of the literature identified several risk factors that had been consistently identified as occurring more frequently among cases of HPE, including maternal diabetes, twinning, and a predominance of females, while also identifying a number of potential risk factors that had been less widely studied...
May 15, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29756715/an-update-on-amniotic-bands-sequence
#5
Eunice López-Muñoz, Luis E Becerra-Solano
Amniotic bands sequence is a congenital disorder characterized by craniofacial, body wall, and limb anomalies that may be associated with fetalplacental fibrous bands. Its prevalence has been reported to range from 0.19 to 8.1 per 10 000 births. Different theories have attempted to explain the etiology of amniotic band sequence; however, none has individually been able to support each and every defect observed, so it has been considered to be a multifactorial condition. The (pre- and post-natal) identification of anomalies suggestive of amniotic band sequence is useful for the diagnostic approach and implementation of timely therapeutic interventions favoring the release of the amniotic bands using fetoscopy with recovery of the involved distal limb perfusion, or else the possibility of performing a post-natal surgical repair...
June 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29753922/beckwith-wiedemann-syndrome-a-population-based-study-on-prevalence-prenatal-diagnosis-associated-anomalies-and-survival-in-europe
#6
Ingeborg Barisic, Ljubica Boban, Diana Akhmedzhanova, Jorieke E H Bergman, Clara Cavero-Carbonell, Ieva Grinfelde, Anna Materna-Kiryluk, Anna Latos-Bielenska, Hanitra Randrianaivo, Natalya Zymak-Zakutnya, Ivona Sansovic, Monica Lanzoni, Joan K Morris
Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors. We present epidemiological and clinical aspects of patients with Beckwith Wiedemann syndrome diagnosed prenatally or in the early years of life, using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. The study population consisted of 371 cases identified between January 1990 and December 2015 in 34 registries from 16 European countries...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29753093/epidemiology-of-septo-optic-dysplasia-with-focus-on-prevalence-and-maternal-age-a-eurocat-study
#7
Ester Garne, Anke Rissmann, Marie-Claude Addor, Ingeborg Barisic, Jorieke Bergman, Paula Braz, Clara Cavero-Carbonell, Elizabeth S Draper, Miriam Gatt, Martin Haeusler, Kari Klungsoyr, Jennifer J Kurinczuk, Nathalie Lelong, Karen Luyt, Catherine Lynch, Mary T O'Mahony, Olatz Mokoroa, Vera Nelen, Amanda J Neville, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Florence Rouget, Bruno Schaub, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Awi Wiesel, Nataliia Zymak-Zakutnia, Monica Lanzoni, Joan K Morris
Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6...
May 9, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29753092/sex-differences-for-major-congenital-heart-defects-in-down-syndrome-a-population-based-study
#8
Michele Santoro, Alessio Coi, Isabella Spadoni, Fabrizio Bianchi, Anna Pierini
BACKGROUND: Down syndrome (DS) is the most common autosomal chromosomal anomaly in liveborn infants. About 40% of infants with DS have a major congenital heart defect (CHD). Among them, atrioventricular septal defects (AVSD), atrial septal defects (ASD), ventricular septal defect (VSD) and Tetralogy of Fallot (ToF) are the most common. The aim of this study was to estimate the sex difference in the occurrence of CHD in infants with DS comparing it with non-DS infants. METHOD: Live birth cases of DS diagnosed by the first year of life were extracted from the Registry of Congenital Anomalies of Tuscany (2003-2015 period)...
May 9, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29740943/vanishing-white-matter-a-leukodystrophy-due-to-astrocytic-dysfunction
#9
Marianna Bugiani, Caroline Vuong, Marjolein Breur, Marjo S van der Knaap
VWM is one of the most prevalent leukodystrophies with unique clinical, pathological and molecular features. It mostly affects children, but may develop at all ages, from birth to senescence. It is dominated by cerebellar ataxia and susceptible to stresses that act as factors provoking disease onset or episodes of rapid neurological deterioration possibly leading to death. VWM is caused by mutations in any of the genes encoding the five subunits of the eukaryotic translation initiation factor 2B (eIF2B). Although eIF2B is ubiquitously expressed, VWM primarily manifests as a leukodystrophy with increasing white matter rarefaction and cystic degeneration, meager astrogliosis with no glial scarring and dysmorphic immature astrocytes and increased numbers of oligodendrocyte progenitor cells that are restrained from maturing into myelin-forming cells...
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29734759/trends-in-the-prevalences-of-selected-birth-defects-in-korea-2008%C3%A2-2014
#10
Jung-Keun Ko, Dirga Kumar Lamichhane, Hwan-Cheol Kim, Jong-Han Leem
Little information is available on the prevalences of birth defects in Korea. The aims of this study were to estimate recent prevalences of selected birth defects and to analyze the prevalence trends of these defects during the period from 2008 to 2014. Prevalences were calculated for 69 major birth defects using health insurance claim data obtained from the Korea National Health Insurance Service (NHIS). Prevalence rate ratios were calculated using Poisson regression to analyze trends over the 7-year study period...
May 5, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29730993/outcome-of-twin-pregnancies-complicated-by-a-neural-tube-defect
#11
Vanessa Ross, Karen Reidy, Lex W Doyle, Ricardo Palma-Dias, Mark P Umstad
Twin pregnancies discordant for neural tube defects (NTD) is a management dilemma. Risks of preterm delivery from polyhydramnios must be balanced with the risks of selective termination (ST) of the anomalous fetus. We investigated the prevalence of twin pregnancies discordant for NTD and the rate of pregnancy complications in our institution over a 10-year period. Cases were obtained by searching the hospital ultrasound database and findings were confirmed by expert review of ultrasound images. Outcomes of ST and expectant management were assessed...
May 7, 2018: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/29713643/magnitude-of-neural-tube-defects-and-associated-risk-factors-at-three-teaching-hospitals-in-addis-ababa-ethiopia
#12
Abel Gedefaw, Sisay Teklu, Birkneh Tilahun Tadesse
There is scarcity of data on prevalence of neural tube defects (NTDs) in lower-income countries. Local data are important to understand the real burden of the problem and explore risk factors to design and implement preventive approaches. This study aimed to determine prevalence and risk factors of NTDs. A hospital-based cross-sectional and unmatched case-control study was conducted at three teaching hospitals of Addis Ababa University. NTDs were defined as cases of anencephaly, spina bifida, and encephalocele based on ICD-10 criteria...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29712653/direct-activation-of-adenosine-monophosphate-activated-protein-kinase-ampk-by-pf-06409577-inhibits-flavivirus-infection-through-modification-of-host-cell-lipid-metabolism
#13
Nereida Jiménez de Oya, Ana-Belén Blázquez, Josefina Casas, Juan-Carlos Saiz, Miguel A Martín Acebes
Mosquito-borne flaviviruses are a group of RNA viruses that constitute global threats for human and animal health. Replication of these pathogens is strictly dependent on cellular lipid metabolism. We have evaluated the effect of the pharmacological activation of Adenosine Monophosphate-activated Protein Kinase (AMPK), a master regulator of lipid metabolism, on the infection of three medically relevant flaviviruses: West Nile virus (WNV), Zika virus (ZIKV) and dengue virus (DENV). WNV is responsible for recurrent outbreaks of meningitis and encephalitis affecting humans and horses worldwide...
April 30, 2018: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/29712514/prenatal-diagnosis-of-suprarenal-mass-by-magnetic-resonance-imaging-a-case-series
#14
Pedro Castro, Ana Paula Matos, Heron Werner, Tatiana Fazecas, Renata Nogueira, Pedro Daltro, Edward Araujo Júnior
OBJECTIVE: The aim of this study was to evaluate the perinatal outcomes and postnatal follow-up of prenatally diagnosed suprarenal masses (SRMs) evaluated by magnetic resonance imaging (MRI). METHODS: Thirteen fetuses with SRMs detected during routine prenatal ultrasound screening were evaluated by MRI between February 2007 and May 2015. The prenatal characteristics of the masses, complications of the pregnancies, and related malformations were collected as the postnatal clinical, radiological, and pathological data...
May 15, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29708800/birth-prevalence-of-orofacial-clefts-in-kuwait-from-hospital-based-registration-retrospective-study
#15
Wasmiya A Alhayyan, Sharat C Pan, Fawzi M AlQatami
INTRODUCTION: Cleft lip and palate (CLAP) are the most common craniofacial anomalies and birth defects globally. Despite the fact that a tertiary care registry of clefts has existed in Kuwait since 2008, to date there is no published data regarding the prevalence of orofacial clefts in this population. OBJECTIVE: To tabulate the pattern of orofacial clefts from tertiary care center registration during 2009 through 2014 and to estimate the prevalence and trend using population-based records...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29703853/a-modified-delphi-study-towards-developing-a-guideline-to-inform-policy-on-fetal-alcohol-spectrum-disorders-in-south-africa-a-study-protocol
#16
Babatope O Adebiyi, Ferdinand C Mukumbang, Kufre J Okop, Anna-Marie Beytell
INTRODUCTION: Maternal alcohol consumption during pregnancy can result in mental and physical birth defects in individuals. These birth defects are usually described as fetal alcohol spectrum disorders (FASDs). With an estimated 183-259 per 1000 children born with FASDs, South Africa is identified to have the highest prevalence of FASDs in the world. Nevertheless, there is a lack of appropriate policies, guidelines and interventions addressing the issues around FASDs. This protocol outlines a proposed process for developing a guideline to inform policies on FASDs...
April 27, 2018: BMJ Open
https://www.readbyqxmd.com/read/29701543/global-hydrocephalus-epidemiology-and-incidence-systematic-review-and-meta-analysis
#17
Michael C Dewan, Abbas Rattani, Rania Mekary, Laurence J Glancz, Ismaeel Yunusa, Ronnie E Baticulon, Graham Fieggen, John C Wellons, Kee B Park, Benjamin C Warf
OBJECTIVE Hydrocephalus is one of the most common brain disorders, yet a reliable assessment of the global burden of disease is lacking. The authors sought a reliable estimate of the prevalence and annual incidence of hydrocephalus worldwide. METHODS The authors performed a systematic literature review and meta-analysis to estimate the incidence of congenital hydrocephalus by WHO region and World Bank income level using the MEDLINE/PubMed and Cochrane Database of Systematic Reviews databases. A global estimate of pediatric hydrocephalus was obtained by adding acquired forms of childhood hydrocephalus to the baseline congenital figures using neural tube defect (NTD) registry data and known proportions of posthemorrhagic and postinfectious cases...
April 27, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29676809/prevalence-of-maternal-birth-trauma-in-nepali-women
#18
Friyan Turel, Delena Caagbay, Hans Peter Dietz
OBJECTIVES: Pelvic organ prolapse is very common among women in Nepal, especially uterine prolapse. This would suggest a high rate of levator trauma, which is a strong predictor of such prolapse in the Western world. Hence, we decided to study the prevalence of maternal birth trauma in Nepali women. METHODS: In November 2016, we offered an interview, clinical examination, and 4-dimensional translabial sonography to women attending a gynecology clinic. Of 129 women seen, 5 were excluded due to previous pelvic surgery...
April 20, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29668062/long-term-outcomes-and-molecular-analysis-of-a-large-cohort-of-patients-with-46-xy-disorder-of-sex-development-due-to-partial-gonadal-dysgenesis
#19
Nathalia Lisboa Gomes, Antônio Marcondes Lerário, Aline Machado Zamboni, Daniela Rodrigues de Moraes, Thatiana Evilen da Silva, Ivo Jorge Prado Arnhold, Rafael Loch Batista, José Antônio Diniz Faria Júnior, Elaine F Costa, Mirian Y Nishi, Marlene Inacio, Sorahia Domenice, Berenice B Mendonca
BACKGROUND: Follow-up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis difficult. OBJECTIVE: To analyse the long-term outcomes of patients with 46,XY PGD regarding testosterone production, germ cell tumour risk, genotype, and psychosexual adaptation. METHODS: A retrospective longitudinal study of 33 patients (20 assigned male and 13 patients assigned female at birth). Molecular diagnosis was performed by Sanger sequencing or by targeted massively parallel sequencing of 63 genes related to disorders of sex development (DSDs)...
April 18, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29664391/zika-virus-igg-in-infants-with-microcephaly-guinea-bissau-2016
#20
Maiken Worsøe Rosenstierne, Frederik Schaltz-Buchholzer, Fernanda Bruzadelli, Asson Có, Placido Cardoso, Charlotte Sværke Jørgensen, Johan Michiels, Leo Heyndrickx, Kevin K Ariën, Thea Kølsen Fischer, Anders Fomsgaard
We analyzed blood samples from infants born with microcephaly and their mothers in Guinea-Bissau in 2016 for pathogens associated with birth defects. No Zika virus RNA was detected, but Zika virus IgG was highly prevalent. We recommend implementing pathogen screening of infants with congenital defects in Guinea-Bissau.
May 2018: Emerging Infectious Diseases
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