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Neural tube defects

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https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#1
REVIEW
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28734746/spina-bifida-management
#2
Leslie A Phillips, Justin M Burton, Sarah Helen Evans
Myelomeningocele, commonly known as spina bifida, is a birth defect in which the spinal cord does not develop properly due to incomplete closure of the neural tube at 28 days of gestation. With advances in treatment modalities, technologies, and medical knowledge, people with spina bifida in the United States are living well into adulthood. Myelomeningocele management includes life-long comprehensive neurologic, urologic, musculoskeletal, skin, and habilitation management. We describe approaches to the same, with an emphasis on the signs and symptoms of medical urgencies and emergencies of which every pediatrician must be aware...
July 19, 2017: Current Problems in Pediatric and Adolescent Health Care
https://www.readbyqxmd.com/read/28733112/distinctions-in-gene-specific-changes-in-dna-methylation-in-response-to-folic-acid-supplementation-between-women-with-normal-weight-and-obesity
#3
Hea Jin Park, Lynn B Bailey, Deanna C Shade, Dorothy B Hausman, Natalie M Hohos, Richard B Meagher, Gail Pa Kauwell, Richard D Lewis, Alicia K Smith
BACKGROUND/OBJECTIVES: Obesity and maternal folate deficiency are associated with increased risk for neural tube defects (NTDs). Limited knowledge exists on the impact of folate status or obesity on DNA methylation of genes related to NTD risk and folate metabolism. SUBJECTS/METHODS: Women (18-35y) with normal weight (NW; BMI 18.5-24.9kg/m(2); n=12) and obesity (OB; BMI >30kg/m(2); n=6) were provided FA (800μg/d) for 8-weeks. Serum folate concentration and changes in DNA methylation across 2098 CpG sites in 91 genes related to NTD risk and folate metabolism were examined...
July 18, 2017: Obesity Research & Clinical Practice
https://www.readbyqxmd.com/read/28727133/is-unexplained-elevated-maternal-serum-alpha-fetoprotein-still-important-predictor-for-adverse-pregnancy-outcome
#4
Derya Başbuğ, Alper Başbuğ, Cavidan Gülerman
OBJECTIVES: The purpose of this study was to determined the predictive value of maternal serum alpha-fetoprotein (MSAFP) as a marker for adverse pregnancy outcomes. MATERIAL AND METHODS: This study was carried out at Dr. Zekai Tahir Burak Women's Health Education and Research Hospital between 2009 and 2010. This study included a total of 1,177 pregnant women, including 170 in the study group and 1,007 in the control group. Pregnancy outcomes and characteristics were analyzed with regard to the MSAFP value...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28724645/effect-of-maternal-high-dosages-of-folic-acid-supplements-on-neurocognitive-development-in-children-at-4-5-years-of-age-the-prospective-birth-cohort-infancia-y-medio-ambiente-inma-study
#5
Desirée Valera-Gran, Eva M Navarrete-Muñoz, Manuela Garcia de la Hera, Ana Fernández-Somoano, Adonina Tardón, Jesús Ibarluzea, Nekane Balluerka, Mario Murcia, Llúcia González-Safont, Dora Romaguera, Jordi Julvez, Jesús Vioque
Background: The benefits of the use of folic acid supplements (FASs) during the periconception period to prevent neural tube defects and to ensure normal brain development in offspring are well known. There is concern, however, about the long-term effects of the maternal use of high dosages of FASs that exceed the Tolerable Upper Intake Level (UL) (≥1000 μg/d) on child neurocognitive outcomes.Objective: The objective of the study was to examine the association between the use of high dosages of FASs during pregnancy and child neuropsychological development at ages 4-5 y...
July 19, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28723303/folate-serum-levels-in-italian-women-entering-an-in-vitro-fertilization-program
#6
Adalisa Ponzano, Gian Mario Tiboni
Italian public health authorities recommend women of childbearing age to assume a daily dose of 0.4 mg of folic acid (FA) from at least one month before conception in order to reduce the risk of having children affected by neural tube defects (NTDs). In this study, folate, homocysteine and vitamin B12 serum levels were determined in 77 women entering an in vitro fertilization program. About 75% of patients had serum folate values compatible with the intake of the recommended dose of FA for at least three months, whereas only the 61% of them reached or exceeded the serum folate concentration regarded as the optimal concentration during the periconceptional period...
July 19, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28723301/maternal-occupation-and-the-risk-of-neural-tube-defects-in-offspring
#7
Jihye Kim, Peter H Langlois, Laura E Mitchell, A J Agopian
We evaluated the association between maternal occupation and the risk of neural tube defects (NTDs) in offspring. Data for 491 nonsyndromic cases were obtained from the Texas Birth Defects Registry for deliveries between 1999 and 2009. We randomly selected 2,291 controls among all live births in Texas during this time. Maternal occupations were classified using automated software and manual assignment. Multivariable logistic regression analyses were used to examine the relationship between maternal occupation and risk for any NTD, adjusting for maternal race/ethnicity, any diabetes, and maternal body mass index...
July 19, 2017: Archives of Environmental & Occupational Health
https://www.readbyqxmd.com/read/28721594/exome-analysis-in-an-estonian-multiplex-family-with-neural-tube-defects-a-case-report
#8
Liina Pappa, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Ann Paal, Tiit Nikopensius
INTRODUCTION: Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in outcomes also most likely relates to a combination of the severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits...
July 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28718066/the-preventive-effects-of-taurine-on-neural-tube-defects-through-the-wnt-pcp-jnk-dependent-pathway
#9
Qinghua Zhang, Yang Liu, Hui Wang, Li Ma, Hechun Xia, Jianguo Niu, Tao Sun, Li Zhang
The aim of this study was to clarify the protective role of taurine in neuronal apoptosis and the role of the Wnt/PCP-Jnk pathway in mediating the preventive effects of taurine on neural tube defects (NTDs). HT-22 cells (a hippocampal neuron cell line) were divided into a control group, a glutamate-induced apoptosis group, and glutamate (4.0 mmol/L) plus low-dose taurine (L; 0.5 mmol/L) and high-dose taurine (H; 2.0 mmol/L) groups. The MTT assay was used to monitor cell proliferation and cell survival. Immunofluorescence and Western blot analyses were used to determine caspase 9 expression...
July 17, 2017: Amino Acids
https://www.readbyqxmd.com/read/28714784/the-management-of-paediatric-neurogenic-bladder-an-approach-in-a-resource-poor-setting
#10
Patrick Opoku Manu Maison, John Lazarus
BACKGROUND: If untreated, paediatric neurogenic bladder can cause renal failure and urinary incontinence. It is usually caused by neural tube defects such as myelomeningocele. Children with a neurogenic bladder should be monitored from birth and management should aim to preserve renal function and achieve social continence. This article outlines the management options appropriate for these children in resource-poor settings. ASSESSMENT: In most low- and middle-income countries, a general lack of awareness of the neurological effects on the urinary tract results in late presentation, usually with urological complications even when spina bifida is diagnosed early...
July 17, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28712006/an-inframe-trinucleotide-deletion-in-mtrr-exon-1-is-associated-with-the-risk-of-spina-bifida
#11
Jun Zhang, Xiao-Lu Dai, Gui-Cen Liu, Juan Wang, Xue-Yi Ren, Mu-Hua Jin, Nan-Nan Mi, Shu-Qin Wang
Maternal genetic variants of enzymes in folate-homocysteine metabolic network are significantly correlative with the risk of spina bifida. To survey the genetic causality, the genotypes of three women having spina bifida fetuses from two unrelated Chinese families were screened in candidate alleles. Polymerase chain reaction, capillary electrophoresis and Sanger sequencing were employed to recognize the allelic variation. A trinucleotide deletion (c.4_6delAGG) was identified in the first exon of MTRR. All the three women showed the novel clinical variation including one heterozygous and two homozygous...
July 15, 2017: Neuromolecular Medicine
https://www.readbyqxmd.com/read/28708332/oxidative-stress-and-cellular-and-tissue-damage-in-organogenic-outbred-mouse-embryos-after-moderate-perigestational-alcohol-intake
#12
Tamara A Coll, Gabriela Chaufan, Leticia Pérez-Tito, Martín R Ventureira, Cristian M A Sobarzo, María Del Carmen Ríos de Molina, Elisa Cebral
Perigestational alcohol consumption by CF-1 mouse, from before mating up to the period of embryo organogenesis, leads to retarded early embryo development and neural tube defects. Here, we addressed if perigestational alcohol ingestion up to Day 10 of pregnancy induces oxidative stress and changes in macromolecules and organ tissues of early organogenic embryos. Adult CF-1 female mice were administered 10% ethanol in their drinking water for 17 days prior to mating and until Day 10 of gestation, whereas control females were administered ethanol-free water...
July 14, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/28698733/chronic-renal-failure-secondary-to-unrecognized-neurogenic-bladder-in-a-child-with-myelodysplasia
#13
Shameem Ahmed, Siba Prosad Paul
Myelodysplasia includes a group of developmental anomalies resulting from defects that occur during neural tube closure. Urological morbidity in patients with myelodysplasia is significant and if not treated appropriately in a timely manner can potentially lead to progressive renal failure, requiring dialysis or transplantation. We report the case of a 13-year old girl with neurogenic bladder who presented chronic renal failure secondary to lipomyelomeningocele with retethering of cord. She was managed with urinary indwelling catheterization until optimization of renal function and then underwent detethering of cord with excision and repair of residual lipomeningomyelocele...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28695418/csf-based-analysis-for-identification-of-potential-serum-biomarkers-of-neural-tube-defects
#14
Xinyu Yan, Lixin Mai, Changchun Lin, Wenji He, Gengsheng Yin, Jiakang Yu, Lian Huang, Sanqiang Pan
The protein composition of cerebrospinal fluid (CSF) in neural tube defects (NTDs) remains unknown. We investigated the protein composition of CSF from 9 infants with NTDs using isobaric tags for relative and absolute quantitation (iTRAQ). We identified 568 proteins in the CSF of infants with spina bifida, which is the most common type of NTD. Among these, 18 proteins were associated with neural tube closure in the CSF during human embryonic neurulation and 5 were involved in NTDs. Based on these results, an animal model was further utilized to investigate early serum biomarkers for NTDs...
July 10, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28691208/transcriptomic-profile-analysis-of-mouse-neural-tube-development-by-rna-seq
#15
Juan Yu, Jianbing Mu, Qian Guo, Lihong Yang, Juan Zhang, Zhizhen Liu, Baofeng Yu, Ting Zhang, Jun Xie
The neural tube is the primordium of the central nervous system (CNS) in which its development is not entirely clear. Understanding the cellular and molecular basis of neural tube development could, therefore, provide vital clues to the mechanism of neural tube defects (NTDs). Here, we investigated the gene expression profiles of three different time points (embryonic day (E) 8.5, 9.5 and 10.5) of mouse neural tube by using RNA-seq approach. About 391 differentially expressed genes (DEGs) were screened during mouse neural tube development, including 45 DEGs involved in CNS development, among which Bmp2, Ascl1, Olig2, Lhx1, Wnt7b and Eomes might play the important roles...
July 10, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28688895/differential-requirement-of-sufu-in-tissue-development-discovered-in-a-hypomorphic-mouse-model
#16
Maria A Hoelzl, Karin Heby-Henricson, Marco Gerling, José M Dias, Raoul V Kuiper, Cornelius Trünkle, Åsa Bergström, Johan Ericson, Rune Toftgård, Stephan Teglund
Suppressor of Fused (SUFU) is an essential negative regulator of the Hedgehog (HH) pathway and involved in GLI transcription factor regulation. Due to early embryonic lethality of Sufu(-/-) mice, investigations of SUFU's role later in development are limited to conditional, tissue-specific knockout models. In this study we developed a mouse model (Sufu(Ex456(fl)/Ex456(fl))) with hypomorphic features where embryos were viable up to E18.5, although with a spectrum of developmental defects of varying severity, including polydactyly, exencephaly and omphalocele...
July 5, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28686331/neural-tube-defects-in-waardenburg-syndrome-a-case-report-and-review-of-the-literature
#17
Joseph Hart, Kalpana Miriyala
Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28678053/raised-frequency-of-central-nervous-system-malformations-related-to-zika-virus-infection-in-two-birth-defects-surveillance-systems-in-bogot%C3%A3-and-cali-colombia
#18
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. Colombia has been experiencing an epidemic wave of Zika infection, starting approximately in October 2015. Here we document the trends of microcephaly and severe CNS malformations in two major cities in Colombia from 2012 through 2016, tracking the epidemiologic curve from before through the major Zika epidemic so far. METHODS: The study included neural tube defects (anencephaly, spina bifida, encephalocele), holoprosencephaly, and hydrocephaly...
July 1, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28671401/folic-acid-supplementation-for-the-prevention-of-neural-tube-defects-recommendation-statement
#19
(no author information available yet)
No abstract text is available yet for this article.
May 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/28668954/lipoencephalocele-in-a-child-an-uncommon-swelling-in-the-occipital-region
#20
Ajay Kumar Verma, Anand Pandey, Digamber Chaubey, Kanoujia Sunil, Archika Gupta, Shiv Narain Kureel
Neural tube defects are common congenital malformations of the central nervous system. The 3 most common neural tube defects are anencephaly, myelomeningocele, and encephalocele. Lipoencephalocele is an extremely uncommon entity with sporadic reports in the literature. We treated a 4-year-old gild with occipital lipoencephalocele. This report presents the clinical presentation and management of the patient along with a review of the relevant literature.
July 1, 2017: Pediatric Neurosurgery
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