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https://www.readbyqxmd.com/read/29772490/effects-of-multiple-inherited-and-acquired-thrombophilia-on-outcomes-of-in-vitro-fertilization
#1
Marcello Di Nisio, Adalisa Ponzano, Gianmario Tiboni, Maria Domenica Guglielmi, Anne Wilhelmina Saskia Rutjes, Ettore Porreca
INTRODUCTION: The effects of multiple inherited and acquired thrombophilic defects on the outcome of in-vitro fertilization (IVF) remain unexplored. The aim of this study was to evaluate the association between multiple thrombophilia and clinical outcomes in a large prospective cohort of women undergoing IVF. MATERIALS AND METHODS: Consecutive women scheduled for IVF were eligible. The primary study outcome was live birth. Secondary outcomes included spontaneous abortion, clinical pregnancy, and symptomatic venous thromboembolism...
May 9, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29772208/influence-of-blood-flow-on-cardiac-development
#2
REVIEW
Katherine Courchaine, Graham Rykiel, Sandra Rugonyi
The role of hemodynamics in cardiovascular development is not well understood. Indeed, it would be remarkable if it were, given the dauntingly complex array of intricately synchronized genetic, molecular, mechanical, and environmental factors at play. However, with congenital heart defects affecting around 1 in 100 human births, and numerous studies pointing to hemodynamics as a factor in cardiovascular morphogenesis, this is not an area in which we can afford to remain in the dark. This review seeks to present the case for the importance of research into the biomechanics of the developing cardiovascular system...
May 14, 2018: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/29770348/quantitative-live-cell-reporter-assay-for-noncanonical-wnt-activity
#3
Edith P Karuna, Michael W Susman, Hsin-Yi Henry Ho
Noncanonical Wnt signaling functions independently of the β-catenin pathway to control diverse developmental processes, and dysfunction of the pathway contributes to a number of human pathological conditions, including birth defects and metastatic cancer. Progress in the field, however, has been hampered by the scarcity of functional assays for measuring noncanonical Wnt signaling activity. We recently described the Wnt5a-Ror-Kif26b (WRK) reporter assay, which directly monitors a post-transcriptional regulatory event in noncanonical Wnt signaling...
March 20, 2018: Bio-protocol
https://www.readbyqxmd.com/read/29770094/travel-related-zika-virus-cases-in-canada-october-2015-june-2017
#4
J Tataryn, L Vrbova, M Drebot, H Wood, E Payne, S Connors, J Geduld, M German, K Khan, P A Buck
Background: Zika virus (ZIKV) is an emerging mosquito-borne disease that can cause severe birth defects if contracted congenitally. Since late 2015, there has been a large increase in the number of travel-related cases of Zika virus infection in Canada. Objective: The objective of this study was to describe the epidemiology of travel-related Zika cases in Canada from October 2015 to June 2017 and review them in the context of the international outbreak in the Americas...
January 4, 2018: Canada Communicable Disease Report, Relevé des Maladies Transmissibles Au Canada
https://www.readbyqxmd.com/read/29768619/prevalence-and-factors-associated-with-enamel-defects-among-preschool-children-from-a-southeastern-city-in-brazil
#5
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
#6
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/29765291/the-potential-close-future-of-hemophilia-treatment-gene-therapy-tfpi-inhibition-antithrombin-silencing-and-mimicking-factor-viii-with-an-engineered-antibody
#7
REVIEW
Wolfgang Korte, Lukas Graf
Summary Hemophilia is one of the best researched monogenic diseases. Hemophilia A will affect approximately 1:5,000 male live births. In recent decades, great progress has been made with the introduction of recombinant proteins in the 1990s for therapy and prophylaxis, securing adequate availability and, with the introduction of the prophylaxis concept, reducing the negative impact of hemophilia on morbidity (especially arthropathy). Despite this progress, there are still challenges to overcome to secure adequate prophylaxis and treatment: for the time being, causal pharmacological hemophilia prophylaxis and therapy requires repeated i...
April 2018: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/29764439/a-survey-on-outcomes-of-accidental-atovaquone-proguanil-exposure-in-pregnancy
#8
Kathrine R Tan, Jessica K Fairley, Mengxi Wang, Julie R Gutman
BACKGROUND: Malaria chemoprophylaxis options in pregnancy are limited, and atovaquone-proguanil (AP) is not recommended because of insufficient safety evidence. An anonymous, internet-based survey was disseminated to describe outcomes of pregnancies accidentally exposed to AP. Outcomes of interest included miscarriage (defined as pregnancy loss before 20 weeks), stillbirth (defined as pregnancy loss at or after 20 weeks), preterm birth or live birth prior to 37 weeks, and the presence of congenital anomalies...
May 15, 2018: Malaria Journal
https://www.readbyqxmd.com/read/29763679/maternal-dietary-nitrate-intake-and-risk-of-neural-tube-defects-a-systematic-review-and-dose-response-meta-analysis
#9
REVIEW
Nader Rahimi Kakavandi, Amin Hasanvand, Mahmoud Ghazi-Khansari, Ahmad Habibian Sezavar, Hassan Nabizadeh, Mohammad Parohan
Despite growing evidence for the potential teratogenicity of nitrate, knowledge about the dose-response relationship of dietary nitrate intake and risk of specific birth defects such as neural tube defects (NTDs) is limited. Therefore, the aim of this meta-analysis was to synthesize the knowledge about the dose-response relation between maternal dietary nitrate intake and the risk of NTDs. We conducted a systematic search in PubMed, ISI Web of Science and Scopus up to February 2018 for observational studies...
May 12, 2018: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/29763655/no-evidence-of-adverse-pregnancy-outcome-after-exposure-to-ibuprofen-in-the-1st-trimester-evaluation-of-the-national-embryotox-cohort
#10
Katarina Dathe, Anne-Katrin Fietz, Lucas William Pritchard, Stephanie Padberg, Stefanie Hultzsch, Katja Meixner, Reinhard Meister, Christof Schaefer
Ibuprofen is an analgesic frequently used in the 1st and 2nd trimester of pregnancy. Most relevant studies deal with NSAID as a group and do not specifically focus on ibuprofen. In this study, 1117 women exposed to ibuprofen in the 1st trimester were compared to 2229 non-exposed women. Data were retrieved from the German Embryotox database. No significantly increased risk of major birth defects (4.8% vs. 4.1%; OR adjusted 1.11, 95% CI 0.75-1.64) or a distinct pattern of birth defects were found. The cumulative incidences of spontaneous abortions were similar across cohorts (15...
May 12, 2018: Reproductive Toxicology
https://www.readbyqxmd.com/read/29762915/women-s-periconceptional-diet-and-risk-of-biliary-atresia-in-offspring
#11
Suzan L Carmichael, Chen Ma, Alissa R Van Zutphen, Cynthia A Moore, Gary M Shaw
INTRODUCTION: We examined the association of biliary atresia with maternal dietary intake, using National Birth Defects Prevention Study (NBDPS) data from 152 cases and 11,112 nonmalformed controls born 1997-2011. METHODS: NBDPS is a multisite, population-based case-control study. Exposure data were from maternal telephone interviews, which included a food frequency questionnaire. Odds ratios (OR) and 95% confidence intervals (CI) were generated from logistic regression models that included nutritional factors as continuous variables and were adjusted for energy intake only or energy intake plus covariates (maternal race-ethnicity, education, age, prepregnancy body mass index, vitamin/mineral supplement intake, conception during summer)...
May 15, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29762460/a-new-life-motherhood-after-heart-transplantation-a-single-center-experience-and-review-of-literature
#12
Francesca Macera, Lucia Occhi, Gabriella Masciocco, Marisa Varrenti, Maria Frigerio
BACKGROUND: Pregnancy after heart transplantation (HTx) may expose the recipient to hemodynamic and immunologic risks, and the newborn to toxic effects of immunosuppressive therapy. Adequate preconception counseling is crucial to identify optimal timing and to modify immunosuppressive therapy in order to minimize risks for both the mother and the fetus. METHOD: We describe our experience with 12 pregnancies occurred in 11 women who had undergone HTx at our center...
May 14, 2018: Transplantation
https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#13
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
#14
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
#15
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/29755911/posterior-fontanelle-encephalomeningocele-in-a-neonate-a-case-report
#16
Abdurrahman Raeiq
Encephalomeningoceles are subtypes of neural tube defects (NTD). We present the case of a one-day-old neonate who was found to have a posterior fontanelle encephalomeningocele that was only discovered after birth. The unique presentation of this case and the surgical management is also considered.
March 13, 2018: Curēus
https://www.readbyqxmd.com/read/29754802/intracellular-calcium-mobilization-is-required-for-sonic-hedgehog-signaling
#17
Dana Klatt Shaw, Derrick Gunther, Michael J Jurynec, Alexis A Chagovetz, Erin Ritchie, David Jonah Grunwald
Graded Shh signaling across fields of precursor cells coordinates patterns of gene expression, differentiation, and morphogenetic behavior as precursors form complex structures, such as the nervous system, the limbs, and craniofacial skeleton. Here we discover that intracellular calcium mobilization, a process tightly controlled and readily modulated, regulates the level of Shh-dependent gene expression in responding cells and affects the development of all Shh-dependent cell types in the zebrafish embryo. Reduced expression or modified activity of ryanodine receptor (RyR) intracellular calcium release channels shifted the allocation of Shh-dependent cell fates in the somitic muscle and neural tube...
May 8, 2018: Developmental Cell
https://www.readbyqxmd.com/read/29754141/unilateral-lung-agenesis-hiatal-hernia-and-atrioventricular-septal-defect-a-rare-combination-of-congenital-anomalies
#18
Sudheer R Gorla, Josaura Fernandez-Sanchez, Ashish Garg, Sethuraman Swaminathan
Unilateral lung agenesis is a relatively rare congenital anomaly with a reported incidence of 1 in 15 000 births. It is frequently associated with other congenital malformations. Some of the sequelae of lung agenesis are potentially life-threatening. Here, we report a case of left lung agenesis in association with hiatal hernia and atrioventricular septal defect, a rare combination of anomalies which have not been described previously in the literature.
May 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29753922/beckwith-wiedemann-syndrome-a-population-based-study-on-prevalence-prenatal-diagnosis-associated-anomalies-and-survival-in-europe
#19
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
#20
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
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