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Neural tube defects

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https://www.readbyqxmd.com/read/28300884/congenital-hemangioma-in-spondylocostal-dysostosis-a-novel-association
#1
Victor Michael Salinas-Torres
Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel association of congenital hemangioma and spondylocostal dysostosis in a Mexican newborn female patient with neural tube defects. Given the embryological relationship between skin and nervous system, I surmise that this association is not coincidental...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28295633/neural-tube-closure-and-embryonic-metabolism
#2
REVIEW
Yoshifumi Yamaguchi, Hidenobu Miyazawa, Masayuki Miura
Neural tube closure (NTC) is an embryonic process during formation of the mammalian central nervous system. Disruption of the dynamic, sequential events of NTC can cause neural tube defects (NTD) leading to spina bifida and anencephaly in the newborn. NTC is affected by inherent factors such as genetic mutation or if the mother is exposed to certain environmental factors such as intake of harmful chemicals, maternal infection, irradiation, malnutrition, and inadequate or excessive intake of specific nutrients...
March 13, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28286691/spina-bifida-pathogenesis-mechanisms-and-genes-in-mice-and-humans
#3
REVIEW
Siti W Mohd-Zin, Ahmed I Marwan, Mohamad K Abou Chaar, Azlina Ahmad-Annuar, Noraishah M Abdul-Aziz
Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition...
2017: Scientifica
https://www.readbyqxmd.com/read/28280513/spectrum-of-congenital-anomalies-among-surgical-patients-at-a-tertiary-care-centre-over-4-years
#4
Arushi Agarwal, K N Rattan, Ankur Dhiman, Ananta Rattan
Introduction. Congenital anomalies are important causes of childhood death, chronic illness, and disability in many countries. Congenital malformations are rapidly emerging as one of the major worldwide problems. Aim. To study the percentage of various congenital anomalies among the patients admitted in Department of Pediatric Surgery at a tertiary care centre over a period of four years from 2011 to 2015 in our centre. Results. Neural tube defects were found to be the most common anomalies in 24.3% of the children admitted...
2017: International Journal of Pediatrics
https://www.readbyqxmd.com/read/28277363/fetoscopic-open-neural-tube-defect-repair-development-and-refinement-of-a-two-port-carbon-dioxide-insufflation-technique
#5
Michael A Belfort, William E Whitehead, Alireza A Shamshirsaz, Zhoobin H Bateni, Oluyinka O Olutoye, Olutoyin A Olutoye, David G Mann, Jimmy Espinoza, Erin Williams, Timothy C Lee, Sundeep G Keswani, Nancy Ayres, Christopher I Cassady, Amy R Mehollin-Ray, Magdalena Sanz Cortes, Elena Carreras, Jose L Peiro, Rodrigo Ruano, Darrell L Cass
OBJECTIVE: To describe development of a two-port fetoscopic technique for spina bifida repair in the exteriorized, carbon dioxide-filled uterus and report early results of two cohorts of patients: the first 15 treated with an iterative technique and the latter 13 with a standardized technique. METHODS: This was a retrospective cohort study (2014-2016). All patients met Management of Myelomeningocele Study selection criteria. The intraoperative approach was iterative in the first 15 patients and was then standardized...
March 6, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28276201/rare-deleterious-variants-in-grhl3-are-associated-with-human-spina-bifida
#6
Philippe Lemay, Patrizia De Marco, Alexandre Emond, Dan Spiegelman, Alexandre Dionne-Laporte, Sandra Laurent, Elisa Merello, Andrea Accogli, Guy A Rouleau, Valeria Capra, Zoha Kibar
Neural tube defects (NTDs), including spina bifida, are among the most common birth defects caused by failure of neural tube closure during development. They have a complex etiology involving largely undetermined environmental and genetic factors. Previous studies in mouse models have implicated the transcription factor Grhl3 as an important factor in the pathogenesis of spina bifida. In the present study, we conducted a re-sequencing analysis of GRHL3 in a cohort of 233 familial and sporadic cases of spina bifida...
March 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/28275953/design-and-comparative-evaluation-of-the-anticonvulsant-profile-carbonic-anhydrate-inhibition-and-teratogenicity-of-novel-carbamate-derivatives-of-branched-aliphatic-carboxylic-acids-with-4-aminobenzensulfonamide
#7
David Bibi, Hafiz Mawasi, Alessio Nocentini, Claudiu T Supuran, Bogdan Wlodarczyk, Richard H Finnell, Meir Bialer
Epilepsy is one of the most common neurological diseases, with between 34 and 76 per 100,000 people developing epilepsy annually. Epilepsy therapy for the past 100(+) years is based on the use of antiepileptic drugs (AEDs). Despite the availability of more than twenty old and new AEDs, approximately 30% of patients with epilepsy are not seizure-free with the existing medications. In addition, the clinical use of the existing AEDs is restricted by their side-effects, including the teratogenicity associated with valproic acid that restricts its use in women of child-bearing age...
March 9, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28266124/proposal-for-supplemental-intake-of-folic-acid-to-reduce-the-risk-of-neural-tube-defects
#8
(no author information available yet)
No abstract text is available yet for this article.
March 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28266009/a-detailed-musculoskeletal-study-of-a-fetus-with-anencephaly-and-spina-bifida-craniorachischisis-and-comparison-with-other-cases-of-human-congenital-malformations
#9
Malak A Alghamdi, Janine M Ziermann, Lydia Gregg, Rui Diogo
Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. about craniorachischisis. Here we provide a detailed report on the musculoskeletal structures of a fetus with craniorachischisis, as well as comparisons with the few descriptions for anencephaly and with musculoskeletal anomalies found in other congenital malformations. We focused in particular on the comparison with trisomies 13, 18, and 21 because neural tube defects have been associated with such chromosomal defects...
March 7, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28265328/highlighting-recognition-management-and-treatment-of-neural-tube-defects-at-various-stages-of-development
#10
Darcie Kiddoo
No abstract text is available yet for this article.
January 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28264835/ift56-regulates-vertebrate-developmental-patterning-by-maintaining-iftb-integrity-and-ciliary-microtubule-architecture
#11
Daisy Xin, Kasey J Christopher, Lewie Zeng, Yong Kong, Scott D Weatherbee
Cilia are key regulators of animal development and depend on intraflagellar transport (IFT) proteins to form and function, yet the roles of individual IFTs are still unclear. We examined the Ift56(hop) mouse mutant and reveal novel insight into the function of IFT56, a poorly understood IFTB protein. Ift56(hop) mice have normal cilia distribution but display defective cilia structure including abnormal positioning and number of ciliary microtubule doublets. Furthermore, we show that Ift56(hop) cilia are unable to accumulate Gli proteins efficiently, resulting in developmental patterning defects in Shh signaling-dependent tissues such as the limb and neural tube...
March 6, 2017: Development
https://www.readbyqxmd.com/read/28261784/fatal-folic-acid-toxicity-in-humans
#12
Gerard Pradeep Devnath, Senthil Kumaran, R Rajiv, Kusa Kumar Shaha, Ashok Nagaraj
Folic acid is B-9 vitamin. Folic acid is prescribed commonly for pregnant women to prevent neural tube defects in the fetus, patients under chemotherapy, pernicious anemia and to reduce the risk of stroke and cardiovascular disease. Acute or chronic ingestion of a large dose of folic acid generally manifests as neurological complications, which are reversible. In this present case, a 23-year-old pregnant woman committed suicide by consuming folic acid tablets and succumbed to death within 36 h. Postmortem toxicological analysis detected folic acid in viscera...
March 6, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28255006/folate-receptor-alpha-is-necessary-for-neural-plate-cell-apical-constriction-during-xenopus-neural-tube-formation
#13
Olga A Balashova, Olesya Visina, Laura N Borodinsky
Folate supplementation prevents up to 70% of neural tube defects (NTDs), which result from a failure of neural tube closure during embryogenesis. The elucidation of the mechanisms underlying folate action has been challenging. This study introduces Xenopus laevis as a model to determine the cellular and molecular mechanisms involved in folate action during neural tube formation. We show that knockdown of folate receptor-α (FRα) impairs neural tube formation and leads to NTDs. FRα knockdown in neural plate cells only is necessary and sufficient to induce NTDs...
March 2, 2017: Development
https://www.readbyqxmd.com/read/28253231/baseline-prevalence-of-birth-defects-associated-with-congenital-zika-virus-infection-massachusetts-north-carolina-and-atlanta-georgia-2013-2014
#14
Janet D Cragan, Cara T Mai, Emily E Petersen, Rebecca F Liberman, Nina E Forestieri, Alissa C Stevens, Augustina Delaney, April L Dawson, Sascha R Ellington, Carrie K Shapiro-Mendoza, Julie E Dunn, Cathleen A Higgins, Robert E Meyer, Tonya Williams, Kara N D Polen, Kim Newsome, Megan Reynolds, Jennifer Isenburg, Suzanne M Gilboa, Dana M Meaney-Delman, Cynthia A Moore, Coleen A Boyle, Margaret A Honein
Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3)...
March 3, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28247109/junctional-neural-tube-defect-in-a-newborn-report-of-a-fourth-case
#15
Cameron Schmidt, Vlad Voin, Joe Iwanaga, Fernando Alonso, Rod J Oskouian, Nitsa Topale, R Shane Tubbs, W Jerry Oakes
INTRODUCTION: A discontinuous, functionally disconnected spinal cord is an extremely rare finding, with only three known reports in the literature. Titled junctional neural tube defect (JNTD), this newly reported dysraphism is believed to arise from a developmental error occurring during junctional neurulation, a transitory stage of development marked by the end of primary neurulation and the beginning of secondary neurulation. Herein, we report a newborn case of JNTD. CASE REPORT: We report a newborn boy born with anorectal atresia...
February 28, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28244241/folate-receptors-and-neural-tube-closure
#16
REVIEW
Hirotomo Saitsu
Neural tube defects (NTD) are among the most common human congenital malformations, affecting 0.5-8/1000 of live births. Human clinical trials have shown that periconceptional folate supplementation significantly decreases the occurrence of NTD in offspring. However, the mechanism by which folate acts on NTD remains largely unknown. Folate receptor (Folr) is one of the three membrane proteins that mediate cellular uptake of folates. Recent studies suggest that mouse Folr1 (formerly referred to as Fbp1) is essential for neural tube closure...
February 28, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28243254/myoinositol-the-bridge-ponti-to-reach-a-healthy-pregnancy
#17
REVIEW
Pietro Cavalli, Elena Ronda
The use of folic acid in the periconceptional period can prevent about 70% of neural tube defects (NTDs). In the remaining cases, no medical prevention is available, and those conditions should be defined as folate-resistant NTDs. Rodent models suggest that some folate-resistant NTDs can be prevented by inositol (myoinositol and chiroinositol) supplementation prior to pregnancy. Should folic acid be combined with myoinositol periconceptional supplementation to reduce the overall risk of NTDs even in humans? Hereafter, we discuss the results from the PONTI study that strongly support both the effectiveness and safety of myoinositol periconceptional supplementation in preventing human NTDs...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28242235/homocysteine-induced-changes-in-cell-proliferation-and-differentiation-in-the-chick-embryo-spinal-cord-implications-for-mechanisms-of-neural-tube-defects-ntd
#18
Karoline Kobus-Bianchini, Gilian Fernando Bourckhardt, Dib Ammar, Evelise Maria Nazari, Yara Maria Rauh Müller
Maternal hyperhomocysteinemia during pregnancy is associated with increased risk of NTD in the offspring. Our study investigated the effects of homocysteine (Hcy) on proliferation and neuronal differentiation of the spinal cord cells in a chick embryo model. Embryos were treated with 20μmol D-L Hcy/50μL saline solution at embryonic day 2 (E2) and analyzed at embryonic days 4 (E4) and 6 (E6). Control embryos received exclusively 50μL saline solution. We performed immunolocalization and flow cytometry analyses using antibodies anti-phosphohistone H3 (pH3), anti-proliferating cell nuclear antigen (PCNA), anti-β-tubulin III and anti-p53...
February 24, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28230798/a%C3%A2-village-based%C3%A2-intervention-%C3%A2-promoting%C3%A2-folic%C3%A2-acid%C3%A2-use%C3%A2-among%C3%A2-rural%C3%A2-chinese%C3%A2-women
#19
Qian Lin, Lina Yang, Fang Li, Hong Qin, Mingzhi Li, Jihua Chen, Jing Deng, Xiangying Hu
BACKGROUND: Folic acid supplementation is effective in reducing the risk of neural tube defects (NTDs). However, the use of folic acid is low among rural women in China. Nutrition education can provide information about folic acid and encourage its use. The primary objective of this study was to test the effectiveness of a village-based nutrition intervention on folic acid use among rural women. METHODS: Sixty villages were randomly selected using multiple-stage sampling and were divided into control and intervention groups...
February 21, 2017: Nutrients
https://www.readbyqxmd.com/read/28221941/the-hap-complex-governs-fumonisin-biosynthesis-and-maize-kernel-pathogenesis-in-fusarium-verticillioides
#20
John B Ridenour, Jonathon E Smith, Burton H Bluhm
Contamination of maize ( Zea mays ) with fumonisins produced by the fungus Fusarium verticillioides is a global concern for food safety. Fumonisins are a group of polyketide-derived secondary metabolites linked to esophageal cancer and neural tube birth defects in humans and numerous toxicoses in livestock. Despite the importance of fumonisins in global maize production, the regulation of fumonisin biosynthesis during kernel pathogenesis is poorly understood. The HAP complex is a conserved, heterotrimeric transcriptional regulator that binds the consensus sequence CCAAT to modulate gene expression...
September 2016: Journal of Food Protection
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