4,043 results match your criteria Anencephaly

Warfarin Anticoagulation and Fetal Central Nervous System Abnormalities: a Case Report.

Clin Lab 2021 Jun;67(6)

Background: Anticoagulation of pregnant woman with mechanical prosthetic heart valves is associated with significant maternal and fetal risks.

Methods: We describe a case of dorsal midline dysplasia in a fetus at 11 weeks' gestation. The mother was receiving warfarin therapy at a dose of 7. Read More

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Symptomatic Meckel's Diverticulum in pediatrics.

Andes Pediatr 2021 Feb 22;92(1):104-109. Epub 2021 Feb 22.

Hospital Clínico san Borja Arriarán, Santiago, Chile.

Introduction: Meckel's diverticulum (MD) is the remnant of the vitelline duct (VD) also called omphalomesente ric duct and it is considered the most frequent gastrointestinal malformation. Most of the cases are asymptomatic and the diagnosis of this type is always a challenge.

Objective: To describe 3 sympto matic presentations of MD and to discuss its symptoms, signs, and possible diagnostic-therapeutic tools. Read More

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February 2021

Rare cases of rare diseases: Re-examining early 20th century cases of anencephaly from the collection of the Moscow State University, Russia.

Int J Paleopathol 2021 Jun 4;34:12-19. Epub 2021 Jun 4.

Research Institute and Museum of Anthropology, Lomonosov Moscow State University, Mokhovaya 11, 109029, Moscow, Russia.

Objective: Documented cases of anencephaly were used to increase differential criteria of this rare disease.

Material: Two skulls from a 20-century documented medical collection at the Moscow State University diagnosed with anencephaly.

Methods: The skulls were evaluated based on macroscopic qualitative and quantitative morphological signs and X-ray analyses. Read More

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Gene Environment Interactions in the Etiology of Neural Tube Defects.

Front Genet 2021 10;12:659612. Epub 2021 May 10.

Department of Molecular and Cellular Biology, Center for Precision Environmental Health, Baylor College of Medicine, Houston, TX, United States.

Human structural congenital malformations are the leading cause of infant mortality in the United States. Estimates from the United States Center for Disease Control and Prevention (CDC) determine that close to 3% of all United States newborns present with birth defects; the worldwide estimate approaches 6% of infants presenting with congenital anomalies. The scientific community has recognized for decades that the majority of birth defects have undetermined etiologies, although we propose that environmental agents interacting with inherited susceptibility genes are the major contributing factors. Read More

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First trimester naproxen exposure and outcome of pregnancy - A German case series.

Reprod Toxicol 2021 May 17;103:51-57. Epub 2021 May 17.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Klinische Pharmakologie und Toxikologie, Pharmakovigilanz- und Beratungszentrum für Embryonaltoxikologie, Germany.

In contrast to other non-steroidal anti-inflammatory drugs (NSAIDs), naproxen use during pregnancy is not well studied. The objective of this analysis was to assess negative effects on pregnancy outcomes following naproxen exposure in the first trimester of pregnancy. Out of 121 exposed pregnancies prospectively recorded by two German teratology information services (TIS) 15 ended as spontaneous abortion and ten were electively terminated; in one case for prenatal diagnosis of anencephaly. Read More

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MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico.

Congenit Anom (Kyoto) 2021 May 20. Epub 2021 May 20.

Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, "Dr. Juan I. Menchaca", Civil Hospital of Guadalajara, Guadalajara, Mexico.

Our study investigated the role of MTHFR C677T and A1298C variants in infants with neural tube defects (NTDs) from western Mexico. Using TaqMan allelic discrimination assay, we genotyped 101 live-born patients with NTDs (cases) and 247 controls. Our findings do not support that homozygosity or heterozygosity for the variants C677T and A1298C in the MTHFR gene are associated with NTDs in infants. Read More

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Hindbrain neuropore tissue geometry determines asymmetric cell-mediated closure dynamics in mouse embryos.

Proc Natl Acad Sci U S A 2021 May;118(19)

Department of Developmental Biology and Cancer Researching and Teaching, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom;

Gap closure is a common morphogenetic process. In mammals, failure to close the embryonic hindbrain neuropore (HNP) gap causes fatal anencephaly. We observed that surface ectoderm cells surrounding the mouse HNP assemble high-tension actomyosin purse strings at their leading edge and establish the initial contacts across the embryonic midline. Read More

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Impact of Voluntary Folic Acid Fortification of Corn Masa Flour on RBC Folate Concentrations in the U.S. (NHANES 2011-2018).

Nutrients 2021 Apr 16;13(4). Epub 2021 Apr 16.

Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Atlanta, GA 30341, USA.

Surveillance data have highlighted continued disparities in neural tube defects (NTDs) by race-ethnicity in the United States. Starting in 2016, the Food and Drug Administration (FDA) authorized voluntary folic acid fortification of corn masa flour to reduce the risk of neural tube defects (NTDs) among infants of Hispanic women of reproductive age. To assess the impact of voluntary corn masa fortification, cross-sectional data from the National Health and Nutrition Examination Survey (NHANES) 2011-2018 for Hispanic women of reproductive age with available red blood cell (RBC) folate concentrations were analyzed, with additional analyses conducted among Hispanic women whose sole source of folic acid intake was fortified foods (enriched cereal grain products (ECGP) only), excluding ready-to-eat cereals and supplements. Read More

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The impact of anencephaly on parents: A mixed-methods study.

Death Stud 2021 Apr 17:1-10. Epub 2021 Apr 17.

College of Nursing, Washington State University, Spokane, Washington, USA.

This study used a convergent parallel mixed-method design to explore the impact of an anencephalic pregnancy on parents. Twenty women and four men between 18-59 years old participated. Interview transcripts were analyzed using interpretive phenomenology and synthesized with Perinatal Grief Intensity Scale scores using a Pearson's correlation. Read More

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Trans-ovo permethrin exposure affects growth, brain morphology and cardiac development in quail.

Environ Toxicol 2021 Jul 12;36(7):1447-1456. Epub 2021 Apr 12.

School of Biological Sciences and Center for Reproductive Biology, Washington State University, Pullman, Washington, USA.

Permethrin is a commonly used, highly effective pesticide in poultry agriculture, and has recently been trialed in conservation efforts to protect Galápagos finch hatchlings from an invasive ectoparasite. Although permethrin is considered safe for adults, pesticides can have health consequences when animals are exposed during early life stages. The few studies that have examined permethrin's effects in embryonic chicks and rats have shown hydrocephaly, anencephaly, reduced cellular energy conversion, and disruption of developing heart muscle. Read More

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Birth prevalence of congenital anomalies in Argentina, according to socioeconomic level.

J Community Genet 2021 Mar 31. Epub 2021 Mar 31.

National Network of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics, National Administration of Health Laboratories and Institutes, National Ministry of Health, Buenos Aires, Argentina.

Birth prevalence of congenital anomalies (CA) in Argentina is estimated around 1.7%. CA are the second leading cause of infant mortality. Read More

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Maternal ethnicity and the prevalence of British pregnancies affected by neural tube defects.

Birth Defects Res 2021 Mar 23. Epub 2021 Mar 23.

Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, London, UK.

Background: Few data are available on the prevalence of neural tube defects (NTDs) within different ethnic communities of the United Kingdom. This study aimed to calculate prevalence estimates for NTD-affected pregnancies, classified by maternal ethnicity, and to explore why variations in prevalence might exist.

Methods: A cross-sectional study was performed with data from regional congenital anomaly registers in England and Wales, for NTD-affected pregnancies between 2006 and 2011. Read More

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Food Fortification with Folic Acid Prevents Spina Bifida and Anencephaly: A Need for Paradigm Shift in Evidence Evaluation for Policy-Making.

Am J Epidemiol 2021 Mar 17. Epub 2021 Mar 17.

Center for Spina Bifida Prevention, Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA.

Modern epidemiology advocates context-specific evidence evaluation to support public health policy decisions, avoiding excessive reliance on experimental designs. We present the rationale for a paradigm shift in evaluation of the evidence derived from independent studies as well as systematic reviews and meta-analyses of observational studies, applying Hill's criteria (including coherence, plausibility, temporality, consistency, magnitude of effect, and dose-response) to evaluate food fortification as an effective public health intervention. A critical appraisal of published evidence between 1983 - 2020 supports the conclusion that food fortification with folic acid prevents folic-acid preventable spina bifida and anencephaly (FAP SBA). Read More

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Incidence of neural tube defects and their risk factors within a cohort of Moroccan newborn infants.

BMC Pediatr 2021 03 15;21(1):124. Epub 2021 Mar 15.

Congenital Defects Research Team, Faculty of Medicine and Pharmacy, University Mohamed V Rabat, P.B: 174 Downtown Rabat, Rabat, Morocco.

Background: Neural tube defects (NTDs) are a group of birth defects that result from a partial or complete failure of the neural tube to close during embryogenesis. Their prevalence varies between 0.5 to 2 per 1000 births in countries without folic acid supplementation. Read More

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Congenital abnormalities in dead-in-shell chicks associated with mixed bacterial infections.

Heliyon 2021 Feb 14;7(2):e06272. Epub 2021 Feb 14.

Department of Veterinary Clinical Sciences, Faculty of Veterinary Medicine, Jordan University of Science and Technology (JUST), P.O. Box 3030 Irbid 22110 Jordan.

Determination of the chick embryonic developmental period at which embryonic mortalities occur could help in establishing the cause of such mortalities. The late stage of embryonic development has particular importance due to its dramatic effect on life after hatching. This study was conducted to investigate the occurrence, frequency and bacterial isolates from dead-in-shell chick embryos in Northern Jordan. Read More

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February 2021

Comparison of inherited neural tube defects in companion animals and livestock.

Birth Defects Res 2021 Mar 8;113(4):319-348. Epub 2020 Dec 8.

Faculty of Science, School of Life and Environmental Sciences, The University of Sydney, Sydney, New South Wales, Australia.

Neural tube defects (NTDs) are congenital malformations resulting from the improper or incomplete closure of the neural tube during embryonic development. A number of similar malformations of the protective coverings surrounding the central nervous system are also often included under this umbrella term, which may not strictly fit this definition. A range of NTD phenotypes exist and have been reported in humans and a wide range of domestic and livestock species. Read More

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Burden and consequence of birth defects in Nepal-evidence from prospective cohort study.

BMC Pediatr 2021 02 15;21(1):81. Epub 2021 Feb 15.

Department of Women's and Children's Health, Uppsala University, Dag Hammarskjölds väg 14B, Uppsala, Sweden.

Background: Every year an estimated 7.9 million babies are born with birth defect. Of these babies, more than 3 million die and 3. Read More

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February 2021

Folate: Its Biological Interactions and Strategies to Achieve Sufficiency Without Causing Excess.

K E Elizabeth

Am J Public Health 2021 03;111(3):347-349

Elizabeth K E is with the Department of Pediatrics, Sree Mookambika Institute of Medical Sciences, Kulasekharam, India, and the Tamil Nadu Dr. M.G.R. Medical University, Chennai, India.

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The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature.

Rom J Morphol Embryol 2020 Apr-Jun;61(2):335-343

Department of Pathology, Polizu Clinical Hospital, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania; Department of Behavioral Sciences, Carol Davila University of Medicine and Pharmacy Bucharest, Romania;

Anencephaly is a severe malformation of the central nervous system (CNS), being one of the most common types of neural tube defects. It is defined as total or partial absence of the calvarium, with absence of the brain. Anencephaly has an incidence of 1 to 5 in every 1000 births, and the mortality rate is 100% during intrauterine life or within hours or days after birth. Read More

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February 2021

The Global Burden of Neural Tube Defects and Disparities in Neurosurgical Care.

World Neurosurg 2021 May 1;149:e803-e820. Epub 2021 Feb 1.

Department of Neurosurgery, Tulane University Medical Center, New Orleans, Louisiana, USA.

Background: Despite the success of folic acid fortification programs, neural tube defects (NTDs) such as spina bifida, encephalocele, and anencephaly remain among the most substantial causes of childhood morbidity and mortality worldwide. Although these are complicated conditions that require an interdisciplinary approach to care, definitive treatment of survivable NTDs is often neurosurgical.

Methods: Using Global Burden of Disease data, we examined the global burden of NTDs as related to a nation's wealth, health care quality, and access to neurosurgical care. Read More

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Neural tube closure requires the endocytic receptor Lrp2 and its functional interaction with intracellular scaffolds.

Development 2021 01 26;148(2). Epub 2021 Jan 26.

University of Hohenheim, Institute of Biology, Department of Zoology, Garbenstrasse 30, 70599 Stuttgart, Germany

Pathogenic mutations in the endocytic receptor LRP2 in humans are associated with severe neural tube closure defects (NTDs) such as anencephaly and spina bifida. Here, we have combined analysis of neural tube closure in mouse and in the African Clawed Frog to elucidate the etiology of Lrp2-related NTDs. loss of function impaired neuroepithelial morphogenesis, culminating in NTDs that impeded anterior neural plate folding and neural tube closure in both model organisms. Read More

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January 2021

Folic acid supplementation and risk for congenital hydrocephalus in China.

Public Health Nutr 2021 Jan 26:1-7. Epub 2021 Jan 26.

Institute of Reproductive and Child Health, Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China, Peking University, 38 College Rd, Haidian District, Beijing100191, People's Republic of China.

Objective: We examined whether folic acid (FA) supplementation prevented congenital hydrocephalus (CH) in more than 200 000 births in China.

Design: A large population-based cohort study.

Setting: All births at 20 complete gestational weeks, including live births, stillbirths and pregnancy terminations, and all structural birth defects regardless of gestational week were recorded. Read More

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January 2021

Reducing the Burden of Anemia and Neural Tube Defects in Low- and Middle-Income Countries: An Analysis to Identify Countries with an Immediate Potential to Benefit from Large-Scale Mandatory Fortification of Wheat Flour and Rice.

Nutrients 2021 Jan 16;13(1). Epub 2021 Jan 16.

Nutrition International, Ottawa, ON K2P2K3, Canada.

Using a predetermined set of criteria, including burden of anemia and neural tube defects (NTDs) and an enabling environment for large-scale fortification, this paper identifies 18 low- and middle-income countries with the highest and most immediate potential for large-scale wheat flour and/or rice fortification in terms of health impact and economic benefit. Adequately fortified staples, delivered at estimated coverage rates in these countries, have the potential to avert 72.1 million cases of anemia among non-pregnant women of reproductive age; 51,636 live births associated with folic acid-preventable NTDs (i. Read More

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January 2021

Macrolide and lincosamide antibiotic exposure in the first trimester of pregnancy and risk of congenital anomaly: A European case-control study.

Reprod Toxicol 2021 03 14;100:101-108. Epub 2021 Jan 14.

Congenital Anomaly Register & Information Service, Level 3 West Wing, Singleton Hospital, Sketty Lane, Swansea, United Kingdom.

This study investigated the risk of congenital heart defects (CHD) and other congenital anomalies (CA) associated with first trimester use of macrolide antibiotics (mainly erythromycin, spiramycin, clarithromycin and azithromycin) and lincosamides (clindamycin) using a case-malformed control design. Data included 145,936 babies with a CA diagnosis (livebirths, stillbirths and terminations of pregnancy for CA) from 15 population-based EUROCAT registries in 13 European countries, covering 9 million births 1995-2012. Cases were babies with CHD, anencephaly, orofacial clefts, genital and limb reduction anomalies associated with antibiotic exposure in the literature. Read More

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Imaging in the presence of meroanencephaly.

Radiol Case Rep 2021 Feb 11;16(2):392-395. Epub 2020 Dec 11.

Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

Meroanencephaly occurs when there is an incomplete open median calvarial defect. This condition, which is in the spectrum of anencephaly, results in ectopic brain without skin covering and a normal foramen magnum. We present a rare case of a female fetus with meroanencephaly referred to our institution at 24 weeks and imaged with both prenatal ultrasound and MRI, demonstrating an open neural tube defect in the high parietal area and lack of visualization of the supratentorial ventricular system. Read More

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February 2021

Relational Decision-Making in the Context of Life-Limiting Fetal Anomalies: Two Cases of Anencephaly Diagnosis.

J Midwifery Womens Health 2020 11 28;65(6):813-817. Epub 2020 Nov 28.

Mercy Women's Health, Toledo, Ohio.

Life-limiting fetal diagnoses such as anencephaly require families to make decisions in which no options offered will lead to the desired outcome of a healthy newborn. Although informed choice and shared decision-making are important aspects of ethics regarding care choices, they have limitations. In this article, 2 cases of anencephaly diagnosis are presented, and a relational decision-making model of care is proposed as an alternative for aiding pregnant people and their families in making challenging choices in the context of perinatal care. Read More

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November 2020

Birth defects and unconventional natural gas developments in Texas, 1999-2011.

Environ Res 2021 03 24;194:110511. Epub 2020 Nov 24.

Department of Environmental and Occupational Health, Program in Public Health, Susan and Henry Samueli College of Health Sciences, University of California, Irvine, Irvine, USA.

Unconventional natural gas developments (UNGD) may release air and water pollutants into the environment, potentially increasing the risk of birth defects. We conducted a case-control study evaluating 52,955 cases with birth defects and 642,399 controls born between 1999 and 2011 to investigate the relationship between UNGD exposure and the risk of gastroschisis, congenital heart defects (CHD), neural tube defects (NTDs), and orofacial clefts in Texas. We calculated UNGD densities (number of UNGDs per area) within 1, 3, and 7. Read More

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Neural Tube Defects and Associated Factors among Neonates Admitted to the Neonatal Intensive Care Units in Hiwot Fana Specialized University Hospital, Harar, Ethiopia.

Glob Pediatr Health 2020 13;7:2333794X20974218. Epub 2020 Nov 13.

College of Health and Medical Sciences, Haramaya University, Harar, Ethiopia.

Background: Neural tube defects are a major public health problem and substantially contribute to morbidity and mortality, particularly in low-income countries, including Ethiopia. There are a paucity of data on the magnitude and associated factors of neural tube defects in Ethiopia, particularly in the study setting.

Objective: This study aimed to assess the magnitude of neural tube defects and associated factors among neonates admitted to the neonatal intensive care unit in Hiwot Fana Specialized University Hospital, Harar, Ethiopia. Read More

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November 2020