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Birth defects

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https://www.readbyqxmd.com/read/28926727/early-pregnancy-intrauterine-fetal-exposure-to-maternal-smoking-and-impact-on-fetal-telomere-length
#1
Hooman Mirzakhani, Immaculata De Vivo, J Steven Leeder, Roger Gaedigk, Carrie A Vyhlidal, Scott T Weiss, Kelan Tantisira
BACKGROUND: Reduced telomere length, or its accelerated attrition, has been implicated in aging, mortality, and several human diseases, including respiratory diseases. Age dependent manifestation of telomere-mediated disease during life span indicates the role of developmental stage in these diseases and highlights the importance of fetal developmental process in utero and at earlier life stages. Environmental determinants during developmental and later stages of life could affect telomere length...
September 14, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28926086/common-variants-in-dlg1-locus-are-associated-with-non-syndromic-cleft-lip-with-or-without-cleft-palate
#2
Adrianna Mostowska, Agnieszka Gaczkowska, Kacper Żukowski, Kerstin U Ludwig, Kamil K Hozyasz, Piotr Wójcicki, Elizabeth Mangold, Anne C Böhmer, Stefanie Heilmann-Heimbach, Michael Knapp, Małgorzata Zadurska, Barbara Biedziak, Margareta Budner, Agnieszka Lasota, Agata Daktera-Micker, Paweł P Jagodziński
Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common craniofacial anomaly with a complex and heterogeneous etiology. Knowledge regarding specific genetic factors underlying this birth defect is still not well understood. Therefore, we conducted an independent replication analysis for the top-associated variants located within the DLG1 locus at chromosome 3q29, which was identified as a novel cleft-susceptibility locus in our genome-wide association study (GWAS). Mega-analysis of the pooled individual data from the GWAS and replication study confirmed that common DLG1 variants are associated with the risk of nsCL/P...
September 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28925605/predictivity-of-nonclinical-male-reproductive-findings-for-human-effects
#3
Anthony R Scialli, Richard V Clark, Robert E Chapin
BACKGROUND: Testing of pharmaceutical products for reproductive toxicity in male laboratory animals is required for registration. METHODS: We evaluated whether the results of studies showing male reproductive toxicity in experimental animals was predictive of reproductive effects in men participating in clinical trials. We surveyed companies for information on pharmaceutical candidates that had shown male reproductive toxicity in nonclinical studies for which there was information on male reproductive effects in clinical trials...
September 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28925604/epidemiology-and-prognosis-of-congenital-diaphragmatic-hernia-a-population-based-cohort-study-in-utah
#4
Hari Shanmugam, Luca Brunelli, Lorenzo D Botto, Sergey Krikov, Marcia L Feldkamp
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a relatively frequent and severe malformation. Population-based data on clinical presentation and associated mortality are scarce. We examined a state-wide cohort of infants with a clinically validated diagnosis of CDH to assess their clinical profile, sociodemographic patterns, and infant mortality. METHODS: We identified CDH cases from Utah's statewide population-based surveillance program among the cohort of all pregnancy outcomes (live births, stillbirths, and pregnancy terminations) delivered from 1999 to 2011...
September 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28925591/melinjo-gnetum-gnemon-seed-extract-consumption-during-lactation-improved-vasodilation-and-attenuated-the-development-of-hypertension-in-female-offspring-of-fructose-fed-pregnant-rats
#5
Rachael A Uson-Lopez, Saori Kataoka, Yuuka Mukai, Shin Sato, Masaaki Kurasaki
BACKGROUND: Fructose intake has been correlated with increased prevalence of metabolic disorders including hypertension. In pregnant rats, fructose intake has been reported to have adverse effects on the health of its offspring. This study investigated the effects of gestational maternal fructose consumption and if supplementation with melinjo seed extracts to the maternal diet during lactation could benefit the offspring in later life. METHODS: Pregnant rats were randomly divided into three groups: untreated (CC), fructose-treated (FC), and fructose and melinjo-treated (FM)...
September 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28925590/analytic-methods-for-evaluating-patterns-of-multiple-congenital-anomalies-in-birth-defect-registries
#6
REVIEW
A J Agopian, Jane A Evans, Philip J Lupo
BACKGROUND: It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA patterns have been recognized and described (e.g., known syndromes), others have not been identified or characterized. Elucidating these patterns may result in a better understanding of the etiologies of these MCAs...
September 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28920104/variable-phenotypic-penetrance-of-thrombosis-in-adult-mice-after-tissue-selective-and-temporally-controlled-thbd-gene-inactivation
#7
Thijs E van Mens, Hai-Po H Liang, Sreemanti Basu, Irene Hernandez, Mark Zogg, Jennifer May, Min Zhan, Qiuhui Yang, Jamie Foeckler, Shawn Kalloway, Rashmi Sood, Caren Sue Karlson, Hartmut Weiler
Thrombomodulin (Thbd) exerts pleiotropic effects on blood coagulation, fibrinolysis, and complement system activity by facilitating the thrombin-mediated activation of protein C and thrombin-activatable fibrinolysis inhibitor and may have additional thrombin- and protein C (pC)-independent functions. In mice, complete Thbd deficiency causes embryonic death due to defective placental development. In this study, we used tissue-selective and temporally controlled Thbd gene ablation to examine the function of Thbd in adult mice...
June 27, 2017: Blood Advances
https://www.readbyqxmd.com/read/28918399/inactivated-influenza-vaccination-in-first-trimester-does-not-appear-to-increase-risk-of-birth-defects
#8
Annette Regan
No abstract text is available yet for this article.
September 16, 2017: Evidence-based Nursing
https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#9
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28915335/ecm-related-myopathies-and-muscular-dystrophies-pros-and-cons-of-protein-therapies
#10
Pam M Van Ry, Tatiana M Fontelonga, Pamela Barraza-Flores, Apurva Sarathy, Andreia M Nunes, Dean J Burkin
Extracellular matrix (ECM) myopathies and muscular dystrophies are a group of genetic diseases caused by mutations in genes encoding proteins that provide critical links between muscle cells and the extracellular matrix. These include structural proteins of the ECM, muscle cell receptors, enzymes, and intracellular proteins. Loss of adhesion within the myomatrix results in progressive muscle weakness. For many ECM muscular dystrophies, symptoms can occur any time after birth and often result in reduced life expectancy...
September 12, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28914788/a-decrease-of-incidence-cases-of-fumonisins-in-south-korean-feedstuff-between-2011-and-2016
#11
Juhee Park, Hansub Chang, Seungran Hong, Dongho Kim, Soohyun Chung, Chan Lee
Several plant pathogen Fusarium species produce fumonisins (FUMs); which can end up in food and feed and; when ingested; can exhibit harmful effects on humans and livestock. Mycotoxin intoxication by fumonisin B₁ (FB₁) and fumonisin B₂ (FB₂) can cause porcine pulmonary edema; leukoencephalomalacia in equines; esophageal cancer and birth defects by natural contamination. Herein; the occurrence of FB₁ and FB₂ in feedstuff (compound feed and feed ingredients) was investigated between 2011 and 2016 in South Korea...
September 15, 2017: Toxins
https://www.readbyqxmd.com/read/28914749/raised-frequency-of-microcephaly-related-to-zika-virus-infection-in-two-birth-defects-surveillance-systems-in-bogot%C3%A3-and-cali-colombia
#12
Paula Hurtado-Villa, Angie K Puerto, Salomé Victoria, Gloria Gracia, Lesly Guasmayán, Patricia Arce, Gilberto Álvarez, Esperanza Blandón, Nubia Rengifo, Jorge A Holguín, Alexander Durán, Ignacio Zarante
Zika virus infection during pregnancy is now known to cause congenital microcephaly and severe brain defects. In 2016, rates of microcephaly appeared to start increasing around May, peaking in July, and declining through December. The occurrence of microcephaly appears to have increased nearly 4-fold in 2 large cities in Colombia, concurrently with the reported Zika virus epidemic in the country.
October 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28912269/glycoprotein-a-repetitions-predominant-garp-positively-regulates-transforming-growth-factor-tgf-%C3%AE-3-and-is-essential-for-mouse-palatogenesis
#13
Bill X Wu, Anqi Li, Liming Lei, Satoshi Kaneko, Caroline Wallace, Xue Li, Zihai Li
Glycoprotein A repetitions predominant (GARP) (encoded by the Lrrc32 gene) plays important roles in cell-surface docking and activation of TGF-beta. However, GARP role in organ development in mammalian system is unclear. To determine the function of GARP in vivo, we generated a GARP-KO mouse model. Unexpectedly, the GARP-KO mice died within 24 hours after birth and exhibited defective palatogenesis without apparent abnormalities in other major organs. Furthermore, we observed decreased apoptosis and SMAD2 phosphorylation in the medial edge epithelial (MEE) cells of the palatal shelf of GARP-KO embryos at day 14...
September 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28912114/understanding-the-natural-progression-of-spina-bifida-prospective-study
#14
Judy Thibadeau, Matthew R Reeder, Jennifer Andrews, Katherine Ong, Marcia L Feldkamp, Sydney Rice, Ann Alriksson-Schmidt
BACKGROUND: Spina bifida (SB) is monitored through birth defects surveillance across the United States and in most developed countries. Although much is known about the management of SB and its many comorbid conditions in affected individuals, there are few systematic, longitudinal studies on population-based cohorts of children or adults. The natural history of SB across the life course of persons with this condition is not well documented. Earlier identification of comorbidities and secondary conditions could allow for earlier intervention that might enhance the developmental trajectory for children with SB...
September 14, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28905502/prevalence-trends-of-selected-major-birth-defects-a-multi-state-population-based-retrospective-study-united-states-1999-to-2007
#15
Amanda M St Louis, Keewan Kim, Marilyn L Browne, Gang Liu, Rebecca F Liberman, Wendy N Nembhard, Mark A Canfield, Glenn Copeland, Jane Fornoff, Russell S Kirby
BACKGROUND: We evaluated selected birth defects over a 9-year period to assess prevalence trends by selected maternal and infant factors. METHODS: Data were pooled from 11 population-based birth defects surveillance programs in the United States for children born between 1999 and 2007. Overall prevalence, as well as 3-year interval prevalence, was calculated for 26 specific birth defects, stratified by maternal age, maternal race/ethnicity, and infant sex. Average annual percent change (AAPC) was calculated for each birth defect...
September 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/28905115/clinical-application-of-snp-array-analysis-in-fetuses-with-ventricular-septal-defects-and-normal-karyotypes
#16
Fang Fu, Qiong Deng, Ting-Ying Lei, Ru Li, Xiang-Yi Jing, Xin Yang, Can Liao
PURPOSE: The present study aims to evaluate the utility of high-resolution single-nucleotide polymorphism (SNP) arrays in fetuses with ventricular septal defects (VSDs) with or without other structural anomalies but with normal karyotypes and to investigate the outcomes of cases of prenatal VSDs via clinical follow-up. METHODS: We analyzed 144 fetuses with VSDs and normal karyotypes using Affymetrix CytoScan HD arrays and the analyses were carried out a year after birth...
September 13, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28904675/von-willebrand-s-disease-case-report-and-review-of-literature
#17
Hanae Echahdi, Brahim El Hasbaoui, Mohamed El Khorassani, Aomar Agadr, Mohamed Khattab
Von Willebrand Disease (VWD) is the most common human inherited bleeding disorder due to a defect of Von Willebrand Factor (VWF), which a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels < 50 IU/dL) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). The most bleeding forms of VWD usually do not concern type 1 patients with the mildest VWF defects (VWF levels between 30 and 50IU/dL)...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28904585/is-it-the-monster-teratoma-or-simply-meningomyelocele-our-experience-of-histological-surprise
#18
Suyash Singh, Jayesh Sardhara, Pradeep Sharma, Arun Kumar Srivastava, Kuntal Kanti Das, Kamlesh S Bhaisora, Anant Mehrotra, Awadhesh Kumar Jaiswal, Sanjay Behari, Raj Kumar
Teratomas are one of the most common tumors in newborn with excellent prognosis arises from totipotent primordial germ cells harboring two or three germ cell layers. The tumor has been titled "Great masquerade." The teratomas of sacrococcygeal region present with lower limb weakness, urinary or bowel obstruction, and swelling at lower back or intrauterine mass in ultrasound or complicated delivery. A 2-month-old male child presented with complaints of swelling over lumbosacral region with discharging punctum since birth...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28899405/neonatal-hemolytic-anemia-does-not-always-indicate-thalassemia-a-case-report
#19
Arwa A Al-Harazi, Bilguis M Al-Eryani, Butheinah A Al-Sharafi
BACKGROUND: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly...
September 12, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28898573/alternatives-to-autopsy-for-fetal-and-early-neonatal-perinatal-deaths-insights-from-the-wisconsin-stillbirth-service-program
#20
Elspeth McPherson, Eirini Nestoridi, Dominique Heinke, Drucilla J Roberts, Ruth Fretts, Mahsa M Yazdy, Angela E Lin
BACKGROUND: Although autopsy is a key component of the etiologic evaluation following fetal and early neonatal death, and traditionally has been the preferred method to determine the cause of death, an alternative may be suitable when traditional autopsy by a perinatal pathologist is not available or declined. METHODS: Among 3137 cases evaluated through the Wisconsin Stillbirth Service Program (WiSSP), a community-based program for etiologic evaluation of second trimester miscarriage, stillbirth, and early neonatal death, most diagnoses are based on multiple types of data including placental pathology, clinical examination, photographs, maternal records, radiographs, and laboratory testing...
September 12, 2017: Birth defects research
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