scholarly journals Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

Scientifica ◽  
2017 ◽  
Vol 2017 ◽  
pp. 1-29 ◽  
Author(s):  
Siti W. Mohd-Zin ◽  
Ahmed I. Marwan ◽  
Mohamad K. Abou Chaar ◽  
Azlina Ahmad-Annuar ◽  
Noraishah M. Abdul-Aziz
Keyword(s):  
Central Nervous System ◽  
Animal Model ◽  
Spina Bifida ◽  
Birth Defects ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Heart ◽  
Review Paper ◽  
Heart Defects ◽  
Central Nervous System Malformation

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. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.

scholarly journals Mengenal Spina Bifida dan Pencegahannya

2021 ◽  
Vol 1 (12) ◽  
pp. 896-903
Author(s):  
Genta Faesal Atsani ◽  
Zanetha Mauly Ilawanda ◽  
Ilma Fahira Basyir
Keyword(s):  
Spina Bifida ◽  
Birth Defects ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Abnormality ◽  
Congenital Abnormalities ◽  
Folic Acid Supplementation ◽  
Online Portal ◽  
The Brain ◽  
Developing Spinal Cord

Neural tube defects (NTD) are one of the birth defects or congenital abnormalities that occur in the brain and spine, and commonly find in newborns worldwide. Anencephaly and spina bifida are the two prevalent forms of NTD. The incidence of spina bifida happen on average 1 in 1000 cases of birth worldwide and there are 140,000 cases per year worldwide. Source searches were carried out on the online portal of journal publications as many as 20 sources from MedScape, Google Scholar and the Nation Center for Biotechnology Information / NCBI with the keywords “Neural tube defects (NTD), prevention, and spina bifida”. Spina bifida is a congenital abnormality that occurs in the womb due to a failure of closing process the neural tube during the first few weeks of embryonic development which causes the spine not completely close around the developing spinal cord nerves. NTD can ensue multifactorial conditions such as genetic, environmental, and folate deficiency. The use of folic acid supplementation starting at least 3 months before pregnancy, those are 400 mcg (0.4 mg) per day and 800 mcg per day during pregnancy can reduce the risk of developing neural tube defects such as spina bifida. Generally, spina bifida is undertaking by surgery and the regulation of patients comorbid. Public can find out prevention to avoid or reduce the risk of spina bifida so that the incidence of spina bifida can decrease along with the increasing awareness of the community regarding this disease.

scholarly journals Assessing bottled water nitrate concentrations to evaluate total drinking water nitrate exposure and risk of birth defects

2014 ◽  
Vol 12 (4) ◽  
pp. 755-762 ◽  
Author(s):  
Peter J. Weyer ◽  
Jean D. Brender ◽  
Paul A. Romitti ◽  
Jiji R. Kantamneni ◽  
David Crawford ◽  
...  
Keyword(s):  
Drinking Water ◽  
Water Use ◽  
Birth Defects ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Heart Defects ◽  
Maternal Exposure ◽  
Bottled Water ◽  
Nitrate Concentrations ◽  
Limb Deficiencies

Previous epidemiologic studies of maternal exposure to drinking water nitrate did not account for bottled water consumption. The objective of this National Birth Defects Prevention Study (NBDPS) (USA) analysis was to assess the impact of bottled water use on the relation between maternal exposure to drinking water nitrate and selected birth defects in infants born during 1997–2005. Prenatal residences of 1,410 mothers reporting exclusive bottled water use were geocoded and mapped; 326 bottled water samples were collected and analyzed using Environmental Protection Agency Method 300.0. Median bottled water nitrate concentrations were assigned by community; mothers' overall intake of nitrate in mg/day from drinking water was calculated. Odds ratios for neural tube defects, limb deficiencies, oral cleft defects, and heart defects were estimated using mixed-effects models for logistic regression. Odds ratios (95% CIs) for the highest exposure group in offspring of mothers reporting exclusive use of bottled water were: neural tube defects [1.42 (0.51, 3.99)], limb deficiencies [1.86 (0.51, 6.80)], oral clefts [1.43 (0.61, 3.31)], and heart defects [2.13, (0.87, 5.17)]. Bottled water nitrate had no appreciable impact on risk for birth defects in the NBDPS.

Genetic analysis of rare coding mutations of CELSR1–3 in congenital heart and neural tube defects in Chinese people

2016 ◽  
Vol 130 (24) ◽  
pp. 2329-2340 ◽  
Author(s):  
Xiaojin Qiao ◽  
Yahui Liu ◽  
Peiqiang Li ◽  
Zhongzhong Chen ◽  
Huili Li ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Heart ◽  
Planar Cell Polarity ◽  
Heart Defects ◽  
In Vitro Assays ◽  
Organ Systems ◽  
Canonical Wnt

The planar cell polarity (PCP) pathway is critical for proper embryonic development of the neural tube and heart. Mutations in these genes have previously been implicated in the pathogenesis of neural tube defects (NTDs), but not in congenital heart defects (CHDs) in humans. We systematically identified the mutation patterns of CELSR1–3, one family of the core PCP genes, in human cohorts composed of 352 individuals with NTDs, 412 with CHDs and matched controls. A total of 72 disease-specific, rare, novel, coding mutations were identified, of which 37 were identified in patients with CHDs and 36 in patients with NTDs. Most of these mutations differed between the two cohorts, because only one novel missense mutation in CELSR1 (c.2609G>A p.P870L) was identified in both NTD and CHD patients. Both in vivo and in vitro assays revealed that CELSR1 P870L is a gain-of-function mutation. It up-regulates not only the PCP pathway, but also canonical WNT signalling in cells, and also induces both NTDs and CHDs in zebrafish embryos. As almost equal numbers of mutations were identified in each cohort, our results provided the first evidence that mutations in CELSR genes are as likely to be associated with CHDs as with NTDs, although the specific mutations differ between the two cohorts. Such differences in mutation panels suggested that CELSRs [cadherin, EGF (epidermal growth factor), LAG (laminin A G-type repeat), seven-pass receptors)] might be regulated differently during the development of these two organ systems.

scholarly journals Prevention and awareness of birth defects across the lifespan using examples from congenital heart defects and spina bifida

2021 ◽  
Author(s):  
Sherry L. Farr ◽  
Catharine Riley ◽  
Alissa R. Van Zutphen ◽  
Timothy J. Brei ◽  
Vinita Oberoi Leedom ◽  
...  
Keyword(s):  
Spina Bifida ◽  
Birth Defects ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects

Second trimester serum predictors of congenital heart defects in pregnancies without chromosomal or neural tube defects

2011 ◽  
Vol 31 (5) ◽  
pp. 466-472 ◽  
Author(s):  
Laura Jelliffe-Pawlowski ◽  
Rebecca Baer ◽  
Anita J. Moon-Grady ◽  
Robert J. Currier
Keyword(s):  
Congenital Heart Defects ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Second Trimester

scholarly journals Autopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis

2019 ◽  
Vol 22 (6) ◽  
pp. 546-557
Author(s):  
Camilla Struksnæs ◽  
Harm-Gerd Karl Blaas ◽  
Christina Vogt
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Heart Defects ◽  
World Health ◽  
Chromosomal Anomalies ◽  
Fetal Autopsy ◽  
Autopsy Findings ◽  
Cns Anomalies

ObjectivesCentral nervous system (CNS) anomalies are the second most frequent category of congenital anomalies after congenital heart defects (CHDs). In this study, the aim was to investigate the distribution of different CNS anomalies with associated anomalies and karyotype in a fetal autopsy population of terminated pregnancies over a 30-year period and to correlate the ultrasonographic diagnoses of CNS anomalies with autopsy findings.Materials and MethodsThis study includes 420 intact fetuses with CNS anomalies terminated at gestational ages 11+ 0to 33+ 6over a 30-year period from 1985 to 2014. An ultrasound (US) examination was performed at the National Centre for Fetal Medicine, St. Olavs Hospital, Trondheim. The autopsies were performed at the Department of Pathology at the same hospital or a collaborating hospital. The anomalies were subcategorized according to the classification by the World Health Organization.ResultsNeural tube defects such as anencephaly (22.4%, 107/477) and spina bifida (22.2%, 106/477) constituted the most common CNS anomalies, followed by congenital hydrocephalus (17.8%, 85/477). In total, the karyotype was abnormal in 21.0% of all termination of pregnancies (TOPs), with trisomy 18 as the most frequent abnormal karyotype. CHDs, skeletal anomalies, and urinary anomalies were the most common associated organ anomalies. Throughout the study period, there was full agreement between US and postmortem findings of CNS anomalies in 96.9% (407/420) of TOPs.ConclusionIn this study of autopsy findings of CNS anomalies in intact fetuses terminated after prenatal US diagnosis, neural tube defects were most common. About half of the fetuses had isolated serious CNS anomalies, while the other half were CNS anomalies associated with structural and/or chromosomal anomalies. The prenatal US diagnoses were in good concordance with autopsy findings. In particular, due to challenges of diagnoses made early in pregnancy, it is necessary to continue the validation practice.

The Prevalence of Neural Tube Defects in Sétif University Maternity Hospital, Algeria-3 Years Review (2004-2006)

Pteridines ◽  
2008 ◽  
Vol 19 (1) ◽  
pp. 12-18 ◽  
Author(s):  
Bakhouche Houcher ◽  
Romyla Bourouba ◽  
Farida Djabi ◽  
Zahira Houcher
Keyword(s):  
Public Health ◽  
Folic Acid ◽  
Spina Bifida ◽  
Birth Defects ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Public Health Problem ◽  
Retrospective Chart Review ◽  
High Rate ◽  
Mortality And Morbidity

Abstract Neural tube defects (NTDs) including spina bifida, anencephaly and encephalocele are among the most common birth defects, with high associated mortality and morbidity. There are no data concerning the incidence, associated anomalies, treatment and outcome of NTDs in Algeria. The objective of this study is to analyse data on NTD cases from 2004-2006 at Sétif Hospital, a hospital with 8,000-10,000 deliveries annually. A retrospective chart review of patients with NTDs was performed, who were born at Sétif Hospital 2004-2006. During the 3 year period we examined, there were 215 patients with NTDs treated in the Sétif Hospital. The incidence of NTD is 7.5 per 1,000 births. The sex distribution was not equal among NTD cases, 126 (58.6%) females, 88 (40.9%) males and one (0.5%) unidentified sex. Among all NTD cases, there where 122 (56.7%) with spina bifida, 69 (32.1%) with anencephaly, 1 (0.5%) with encephalocele and 23 (10.7%) with anencephaly and spina bifida. Hundred and seventeen (54.4%) cases died in utero and 4 cases (1.9%) unknown. The rate of consanguinity among all NTD cases was 13% (28/215). The rate of affected newborns was highest in mothers aged 31-35 years (21.9%). The peak prevalence was in June (15.8%). A half of NTDs were spina bifida and there was a high rate of mortality. This study demonstrates that NTD represents a significant public health problem in Algeria. In Algeria there were no population-wide educational campaigns about folic acid or its association with the prevention of birth defects. Public health interventions aimed at increasing the periconceptional consumption of folic acid should be implemented or enhanced to reduce the incidence of NTDs in Algeria.

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