neural tube defects
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Nutrients ◽  
2022 ◽  
Vol 14 (2) ◽  
pp. 357
Author(s):  
Mohamed N. Al Arifi ◽  
Ali M. Alqahtani ◽  
Abdulaziz Naif Alotaibi ◽  
Salmeen D. Babelghaith ◽  
Abdulrahman Alwhaibi ◽  
...  

Background and objectives: Neural tube defects are congenital anomalies which canlead to infant death and serious disability. They are initiated during embryogenesis, between the 23rd and 27th day of fetal life, and can be prevented by the administration of folic acid. Therefore, this study aims to evaluate the knowledge and practice of Saudi women at childbearing age regarding NTDs and FA supplementation. Methodology: This is a cross-sectional study on Saudi women of reproductive age who were asked to complete an online survey to examine their knowledge and practice regarding folic acid supplementation and neural tube defects. Descriptive and simple linear regression analyses were conducted using SPSS v.26 (SPSS Inc., Chicago, IL, USA). Results: A total of 613 women have completed the questionnaire, from which the majority (46.7%) were aged between 36 and 40 years. About 94% of women heard about folic acid and 80% indicated that its deficiency has some relation to neural tube defects. Approximately 37%, 25.3%, and 23.2% of women reported the proper time for folic acid intake to be during first trimester of pregnancy, before pregnancy, or throughout pregnancy, respectively. Linear regression analysis revealed that increase age and education were significantly correlated with a decrease in folic acid administration (p = 0.008) and (p = 0.001), respectively. However, there was no association between time of folic acid administration and income or number of parities. Conclusion: Despite the acceptable level of awareness about the relation of folic acid and neural tube defects, our results revealed that more education is required towards the proper time of supplementation among Saudi childbearing women.


2022 ◽  
Vol 226 (1) ◽  
pp. S52-S53
Author(s):  
Clifton O. Brock ◽  
Jeannine Garnett ◽  
Samantha Hentosh ◽  
Eric P. Bergh ◽  
Stephen A. Fletcher ◽  
...  

2021 ◽  
pp. 875647932110668
Author(s):  
Amanda Hogan ◽  
Natalie Ullmer

Encephaloceles are considered neural tube defects, but their exact cause is unknown. The outcome is dismal, and essential management and counseling are needed for patients. Two-dimensional and three-dimensional sonography can be used to detect encephaloceles as early as 11 weeks, assist in treatment planning, and improve patient care. This case report presents an occipital encephalocele diagnosed by sonography and followed until delivery.


2021 ◽  
Vol 1 (12) ◽  
pp. 896-903
Author(s):  
Genta Faesal Atsani ◽  
Zanetha Mauly Ilawanda ◽  
Ilma Fahira Basyir

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.


2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Wanqi Huang ◽  
Tianchu Huang ◽  
Yusi Liu ◽  
Jialin Fu ◽  
Xiaowei Wei ◽  
...  

AbstractImpaired autophagy and excessive apoptosis disrupt cellular homeostasis and contribute to neural tube defects (NTDs), which are a group of fatal and disabling birth defects caused by the failure of neural tube closure during early embryonic development. However, the regulatory mechanisms underlying NTDs and outcomes remain elusive. Here, we report the role of the transcription factor nuclear factor I-C (NFIC) in maintaining cellular homeostasis in NTDs. We demonstrated that abnormally elevated levels of NFIC in a mouse model of NTDs can interact with the miR-200b promoter, leading to the activation of the transcription of miR-200b, which plays a critical role in NTD formation, as reported in our previous study. Furthermore, miR-200b represses autophagy and triggers apoptosis by directly targeting the autophagy-related gene Ambra1 (Autophagy/Beclin1 regulator 1). Notably, miR-200b inhibitors mitigate the unexpected effects of NFIC on autophagy and apoptosis. Collectively, these results indicate that the NFIC-miR-200b-Ambra1 axis, which integrates transcription- and epigenome-regulated miRNAs and an autophagy regulator, disrupts cellular homeostasis during the closure of the neural tube, and may provide new insight into NTD pathogenesis.


Author(s):  
Abdulrahman Mazki Alanazi ◽  
Abdullah Juayf Alanazi ◽  
Yasir Wadi Alanazi ◽  
Muhammad Sari Alanazi ◽  
Ghada Rezk ◽  
...  

Background: Folic acid reduces the risk of neural tube defects. As approximately 50% of pregnancies are unintended, women of reproductive age should be aware of the importance of folic acid. This study aims to assess the level of awareness and knowledge among childbearing female on the importance of preconception folic acid supplementation in preventing neural tube defects (NTDs) in Arar city. Methodology: A population-based cross-sectional study was conducted in Arar city, Norther Saudi Arabia on included Saudi women in reproductive age. A pre-designed online questionnaire was used for data collection. Data was entered and analyzed using statistical package for Social Sciences Program, version 20 (SPSS Inc., Chicago, Illinois, USA). The results were displayed as counts, percentages. Appropriate statistical tests will be used for comparisons. P ≤ 0.05 is considered significant. Results: The sample consisted of 428 women in reproductive age, 60.1% aged between 30 to 40 years, 39% aged between 20 to 30 years and only 0.9% aged between 18 to 20 years old. 91.8% were married. 85% of participants reported that their doctor prescribed folic pills for them before. 95.1% think that women should take folic acid pills in pregnancy while 75.2% think that it is necessary to take folic pills pre-pregnancy. 85.3% had taken folic acid pills in previous pregnancy. 31.3% think that it should be stopped after pregnancy. 84.6% think that folate deficiency causes fetal abnormalities. Only 8.4% of studied women reported attending seminar or lecture on folic acid importance. Conclusion: The results of the current study affirmed good knowledge of folic acid supplementation usage during pregnancy among women in Arar, KSA. There was a significant association between knowledge of folic acid taking importance during pregnancy with marital status, number of children, and educational level of participants.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Li Zhang ◽  
Rui Cao ◽  
Dandan Li ◽  
Yuqing Sun ◽  
Juan Zhang ◽  
...  

AbstractNeural tube defects (NTDs) remain one of the most life-threatening birth defects affecting infants. Most patients with NTDs eventually develop lifelong disability, which cause significant morbidity and mortality and seriously reduce the quality of life. Our previous study has found that ethionine inhibits cell viability by disrupting the balance between proliferation and apoptosis, and preventing neural stem cells from differentiating into neurons and astrocytes. However, how ethionine participates in the pathogenesis of neural tube development through N6-methyladenosine (m6A) modification remains unknown. This study aims to investigate METTL3- and ALKBH5-mediated m6A modification function and mechanism in NTDs. Herein, our results demonstrate that SAM play not only a compensatory role, it also leads to changes of m6A modification in neural tube development and regulation. Additionally, these data implicate that METTL3 is enriched in HT-22 cells, and METTL3 knockdown reduces cell proliferation and increases apoptosis through suppressing Wnt/β-catenin signaling pathway. Significantly, overexpression of ALKBH5 can only inhibit cell proliferation, but cannot promote cell apoptosis. This research reveals an important role of SAM in development of NTDs, providing a good theoretical basis for further research on NTDs. This finding represents a novel epigenetic mechanism underlying that the m6A modification has profound and lasting implications for neural tube development.


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