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Neural tube defects

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https://www.readbyqxmd.com/read/29778488/the-2016-bernard-sachs-lecture-timing-in-morphogenesis-and-genetic-gradients-during-normal-development-and-in-malformations-of-the-nervous-system
#1
REVIEW
Harvey B Sarnat
Nervous system development is quadradimensional. Both normal ontogenesis and developmental malformations are explained in the context of the fourth dimension, timing. Timing of the onset of either the genetic expression of a mutation or an epigenetic event that may be teratogenic is primordial in determining morphogenesis and the forms of malformations with their functional consequences. Multiple genotypes may cause similar phenotypes or a single genotype with different degrees of retained normal genetic expression may result in variable phenotypes...
March 30, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29777755/folic-acid-and-primary-prevention-of-neural-tube-defects-a-review
#2
REVIEW
Jan D van Gool, Herbert Hirche, Hildegard Lax, Luc De Schaepdrijver
With 4 mg folic acid daily, it may take 20 weeks to reach red-blood-cell folate levels between 1,050 and 1,340 nmol/L, optimal for reduction of the neural tube defect risk. Therefore, folic acid supplementation should be started 5-6 months before conception. The residual risk with optimal red-blood-cell folate levels is reportedly 4.5 per 10,000 total births. The residual risk in pooled data from countries with mandatory folic acid fortification is 7.5 per 10,000 pregnancies, regardless of pre-fortification rates...
May 16, 2018: Reproductive Toxicology
https://www.readbyqxmd.com/read/29776969/identifying-genetic-players-in-cell-sheet-morphogenesis-using-a-drosophila-deficiency-screen-for-genes-on-chromosome-2r-involved-in-dorsal-closure
#3
Richard D Mortensen, Regan P Moore, Stephanie M Fogerson, Hellen Y Chiou, Chimdindu V Obinero, Neel K Prabhu, Angela H Wei, Janice M Crawford, Daniel P Kiehart
Cell sheet morphogenesis characterizes key developmental transitions and homeostasis, in vertebrates and throughout phylogeny, including gastrulation, neural tube formation and wound healing. Dorsal closure, a process during Drosophila embryogenesis, has emerged as a model for cell sheet morphogenesis. ∼140 genes are currently known to affect dorsal closure and new genes are identified each year. Many of these genes were identified in screens that resulted in arrested development. Dorsal closure is remarkably robust and many questions regarding the molecular mechanisms involved in this complex biological process remain...
May 18, 2018: G3: Genes—Genomes—Genetics
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
#4
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/29763679/maternal-dietary-nitrate-intake-and-risk-of-neural-tube-defects-a-systematic-review-and-dose-response-meta-analysis
#5
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/29757767/the-prevalence-of-scoliosis-in-spina-bifida-subpopulations-a-systematic-review
#6
Arne Heyns, Stefano Negrini, Katrien Jansen, Pierre Moens, Sebastiaan Schelfaut, Koenraad Peers, Carlotte Kiekens
Prevalence of scoliosis within spina bifida subpopulations is important for diagnostics and therapeutic purposes. This review determined the prevalence of scoliosis within spina bifida subpopulations by means of a systematic literature review by using the following databases: Medline-Pubmed, Embase, Cochrane and Pedro. All Dutch- and English-written literature using the MESH-terms: "Spinal Dysraphism", "Neural Tube Defects", "Scoliosis" was analysed using the exclusion criteria: animal studies, case reports, studies regarding the prevalence of spina bifida among patients with scoliosis, studies with inclusion of patients with scoliosis <11° without possibility to identify subgroups with scoliosis >10°, studies without an own study group, articles comprising the same patient group as another article, neural tube defects besides spina bifida and articles without specification of spina bifida subtype...
May 11, 2018: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/29755911/posterior-fontanelle-encephalomeningocele-in-a-neonate-a-case-report
#7
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
#8
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/29750727/adipofascial-flaps-with-acellular-dermal-matrix-compared-with-myocutaneous-flap-reconstruction-in-lumbar-myelomeningocele-defects
#9
Navid Pourtaheri, Derek Wang, Daniel Calva, Karan Chopra, Anand R Kumar
BACKGROUND: Adipofascial flaps (AFF) with acellular dermal matrix (ADM) have the potential to reconstruct neural tube defects without sacrificing muscle that may be critical for long-term function. Comparative studies between myocutaneous flap (MF) reconstruction, the accepted standard reconstructive technique, and AFF/ADM remain under-reported. The aim of this study was to evaluate the safety and efficacy of myelomeningocele reconstruction using muscle sparing AFF/ADM versus MF. METHODS: A retrospective comparison was conducted on consecutive myelomeningocele patients reconstructed with MF or AFF/ADM over an 84-month period...
May 10, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29749918/operative-and-consultative-proportions-of-neurosurgical-disease-worldwide-estimation-from-the-surgeon-perspective
#10
Michael C Dewan, Abbas Rattani, Ronnie E Baticulon, Serena Faruque, Walter D Johnson, Robert J Dempsey, Michael M Haglund, Blake C Alkire, Kee B Park, Benjamin C Warf, Mark G Shrime
OBJECTIVE The global magnitude of neurosurgical disease is unknown. The authors sought to estimate the surgical and consultative proportion of diseases commonly encountered by neurosurgeons, as well as surgeon case volume and perceived workload. METHODS An electronic survey was sent to 193 neurosurgeons previously identified via a global surgeon mapping initiative. The survey consisted of three sections aimed at quantifying surgical incidence of neurological disease, consultation incidence, and surgeon demographic data...
May 11, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29742660/management-of-labor-and-delivery-after-fetoscopic-repair-of-an-open-neural-tube-defect
#11
Jaden R Kohn, Vibha Rao, Allison A Sellner, Dina Sharhan, Jimmy Espinoza, Alireza A Shamshirsaz, William E Whitehead, Michael A Belfort, Magdalena Sanz Cortes
OBJECTIVE: To report labor, delivery, and neonatal outcomes in a cohort of women delivering neonates who had undergone fetoscopic neural tube defect repair. METHODS: We conducted a retrospective cohort study from April 2014 to January 2018. All patients met Management of Myelomeningocele Study eligibility criteria. We included patients with completed second-trimester fetoscopic neural tube defect repair (laparotomy, uterine exteriorization, and minimally invasive access through two or three uterine ports) followed by standardized management of labor and delivery at our institution...
May 7, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29733843/modulation-of-nuclear-factor-%C3%AE%C2%BAb-signaling-and-reduction-of-neural-tube-defects-by-quercetin-3-glucoside-in-embryos-of-diabetic-mice
#12
Chengyu Tan, Fantong Meng, E Albert Reece, Zhiyong Zhao
BACKGROUND: Diabetes mellitus in early pregnancy increases the risk of birth defects in infants. Maternal hyperglycemia stimulates the expression of nitric oxide (NO) synthase 2 (NOS2), which can be regulated by transcription factors of the nuclear factor-κB (NF-κB) family. Increases in reactive nitrogen species (RNS) generate intracellular stress conditions, including nitrosative, oxidative, and endoplasmic reticulum (ER) stresses, and trigger programmed cell death (or apoptosis) in the neural folds, resulting in neural tube defects (NTDs) in the embryo...
May 4, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29732722/network-correlation-analysis-revealed-potential-new-mechanisms-for-neural-tube-defects-beyond-folic-acid
#13
Xiaoya Gao, Richard H Finnell, Hongyan Wang, Yufang Zheng
BACKGROUND: Neural tube defects (NTDs) are clinically significant congenital malformations which are known to be folic acid (FA) responsive, such that supplementation significantly reduces the prevalence of NTDs. Nonetheless, some individuals fail to respond to FA supplementation; hence NTDs remain a significant public health concern. The mechanisms that underlie the beneficial effects of FA supplementation remain poorly understood. Mouse models have been used extensively to study the mechanisms driving neural tube closure (NTC)...
May 6, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29730993/outcome-of-twin-pregnancies-complicated-by-a-neural-tube-defect
#14
Vanessa Ross, Karen Reidy, Lex W Doyle, Ricardo Palma-Dias, Mark P Umstad
Twin pregnancies discordant for neural tube defects (NTD) is a management dilemma. Risks of preterm delivery from polyhydramnios must be balanced with the risks of selective termination (ST) of the anomalous fetus. We investigated the prevalence of twin pregnancies discordant for NTD and the rate of pregnancy complications in our institution over a 10-year period. Cases were obtained by searching the hospital ultrasound database and findings were confirmed by expert review of ultrasound images. Outcomes of ST and expectant management were assessed...
May 7, 2018: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/29730690/ultrasound-and-magnetic-resonance-imaging-in-the-prenatal-diagnosis-of-open-spina-bifida
#15
REVIEW
Romeo Micu, Anca Lucia Chicea, Dan Georgian Bratu, Paula Nita, Georgiana Nemeti, Radu Chicea
Open spina bifida, also known as spina bifida aperta is a neural tube defect involving the lack of closure of vertebral arches and associated meninges and/or spinal cord abnormalities.Ultrasound examination is the gold standard for the diagnosis of spina bifida aperta. It represents the main imaging tool used to ascertain this diagnosis early in gestation. Three-dimensional ultrasound is necessary to detect the level and the size of the defect. Magnetic resonance imaging (MRI) represents a more sensitive tool, giving specific information of the defect and associated anomalies, playing an important role in ruling out differential diagnosis...
May 2, 2018: Medical Ultrasonography
https://www.readbyqxmd.com/read/29728895/lrp2-gene-variants-and-their-haplotypes-strongly-influence-the-risk-of-developing-neural-tube-defects-in-the-fetus-a-family-triad-study-from-south-india
#16
Rebekah Prasoona K, Sunitha T, Srinadh B, Muni Kumari T, Jyothy A
Neural tube defects (NTDs) are the leading cause of infant deaths worldwide. Lipoprotein related receptor 2 (LRP2) has been shown to play a crucial role in neural tube development in mouse models. However, the role of LRP2 gene in the development of human NTDs is not yet known. In view of this, family-based triad approach has been followed considering 924 subjects comprising 124 NTD case-parent trios and 184 control-parent trios diagnosed at Institute of Genetics and Hospital for Genetic Diseases, Hyderabad...
May 4, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29727300/rab23-and-developmental-disorders
#17
Catherine H H Hor, Bor Luen Tang, Eyleen L K Goh
Rab23 is a conserved member of the Rab family of small GTPases that regulates membrane trafficking in eukaryotes. It is unique amongst the Rabs in terms of its implicated role in mammalian development, as originally illustrated by the embryonic lethality and open neural tube phenotype of a spontaneous mouse mutant that carries homozygous mutation of open brain, a gene encoding Rab23. Rab23 was initially identified to act as an antagonist of Sonic hedgehog (Shh) signaling, and has since been implicated in a number of physiological and pathological roles, including oncogenesis...
May 4, 2018: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/29725084/loss-of-tctn3-causes-neuronal-apoptosis-and-neural-tube-defects-in-mice
#18
Bin Wang, Yingying Zhang, Hongli Dong, Siyi Gong, Bin Wei, Man Luo, Hongyan Wang, Xiaohui Wu, Wei Liu, Xingshun Xu, Yufang Zheng, Miao Sun
Tctn3 belongs to the Tectonic (Tctn) family and is a single-pass membrane protein localized at the transition zone of primary cilia as an important component of ciliopathy-related protein complexes. Previous studies showed that mutations in Tctn1 and Tctn2, two members of the tectonic family, have been reported to disrupt neural tube development in humans and mice, but the functions of Tctn3 in brain development remain elusive. In this study, Tctn3 knockout (KO) mice were generated by utilizing the piggyBac (PB) transposon system...
May 3, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29713643/magnitude-of-neural-tube-defects-and-associated-risk-factors-at-three-teaching-hospitals-in-addis-ababa-ethiopia
#19
Abel Gedefaw, Sisay Teklu, Birkneh Tilahun Tadesse
There is scarcity of data on prevalence of neural tube defects (NTDs) in lower-income countries. Local data are important to understand the real burden of the problem and explore risk factors to design and implement preventive approaches. This study aimed to determine prevalence and risk factors of NTDs. A hospital-based cross-sectional and unmatched case-control study was conducted at three teaching hospitals of Addis Ababa University. NTDs were defined as cases of anencephaly, spina bifida, and encephalocele based on ICD-10 criteria...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29712790/nmda-receptor-signaling-is-important-for-neural-tube-formation-and-for-preventing-antiepileptic-drug-induced-neural-tube-defects
#20
Eduardo B Sequerra, Raman Goyal, Patricio A Castro, Jacqueline B Levin, Laura N Borodinsky
Failure of neural tube closure leads to neural tube defects (NTDs), which can have serious neurological consequences or be lethal. Use of antiepileptic drugs (AEDs) during pregnancy increases the incidence of NTDs in offspring by unknown mechanisms. Here we show that during Xenopus laevis neural tube formation, neural plate cells exhibit spontaneous calcium dynamics that are partially mediated by glutamate signaling. We demonstrate that N-methyl-D-aspartate (NMDA) receptors are important for the formation of the neural tube and loss of their function induces an increase in neural plate cell proliferation and impairs neural cell migration, which result in NTDs...
April 30, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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