Characterization of CircRNA-Associated CeRNA Networks in Folate Deficiency-Induced Neural Tube Defects / 生物医学与环境科学（英文）

OBJECTIVE@#Circular RNAs (circRNAs) participate in several important pathological processes and have been used in the diagnosis and treatment of various diseases. This study aimed to investigate the role of circRNAs in neural tube defects (NTDs).@*METHOD@#We characterized circRNA-associated competitive endogenous RNA (ceRNA) networks in brain tissue of low folate -induced NTDs mouse at embryonic day 13.5 by high-throughput sequencing. The expression levels of Circzfp644, miR-20-5p and Gas7 were detected by RT-PCR. Gas7 and Circzfp644 functions were determined by miRNA-mimics and inhibitors in mouse teratocarcinoma cells (F9 cells), and luciferase gene reporter assay was assessed in the F9 cells. In addition, the expression levels of Circzfp644, miR-20-5p and Gas7 were determined by Nanostring in human NTDs tissues.@*RESULTS@#We detected 57 circRNA transcripts, 16 miRNAs, and 148 mRNAs that were significantly dysregulated in NTDs brain tissues compared with their expression levels in control (normal) tissues. Circzfp644 shared miRNA response elements with the growth arrest specific 7 ( Gas7) gene and competitively bound with miR-20-5p to increase the expression of Gas7. Downregulation of Circzfp644 and Gas7 and upregulation of miR-20-5p were found in human NTD tissue.@*CONCLUSION@#This study provides new perspectives on the role of circRNAs in nervous system development and the pathogenesis of NTDs.

Exploring the elements of educational intervention for sustainable trachoma prevention programs / 国際保健医療

Objective  To explore and extract the elements of educational intervention from sustainable trachoma prevention programs in developing countries particularly in Africa.Methods  Literature review was conducted with the search engine, PubMed, with extracting keywords as “Trachoma, intervention, education, SAFE, hygiene, WASH, sustainable, sustainability, and elimination”. After carefully reading the extracted literature and assessing the sustainability of the interventions conducted in Sub-Saharan Africa, using analytical standpoint determined by the JICA evaluation items on sustainability, the elements of educational interventions were categorized.Result  Twenty-two articles were extracted and 10 articles that specifically state effectiveness and contents of intervention were selected for analysis. Five categories with elements of educational intervention were classified as follows: [Education in school age and community], [Intangible and tangible support], [Guidance of constructing latrines], [Guidance on how to use equipment and resources], and [Continuation of knowledge and skill transfer activities].Discussion  The results of this study suggested the significance of conducting educational intervention, not only the construction but also the management and maintenance of latrines, and the effectiveness of habituation of hygiene behavior to school children by implementing hygiene education at schools which behavior may also diffuse at home. Challenges remained in trachoma prevention effort who are left out of the support, such as unenrolled children who are unable to receive school hygiene education, and/or those who are inaccessible to clean water.Conclusion  Elements for educational intervention in sustainable trachoma prevention were examined in this study. It was shown that continuous holistic efforts should be made for the educational interventions as well as for the improvement of accessibility of clean water and hygiene without leaving people and the least developed countries behind.

A Study Of Incidence Of Neural Tube Defects And Their Pattern In A Tertiary Care Hospital Of Gurugram

Objective: The study was undertaken to determine the proportion and pattern of Neural Tube Defects (NTD)reported at tertiary care teaching hospital in Gurugram. The incidence of NTDs were determined and comparedwith other studies done in India and other countries.Material and methods: The study was carried out in SGT Medical College Hospital and Research Institute,Gurugram. The total number of deliveries was recorded from 2017- 2019.The aborted fetuses with NTDs wereobserved in detail externally for the sex, type of NTD and other associated anomalies after obtaining ethicalclearance and written informed consent of the parents.Results: The number of deliveries conducted between 2017-2019 at SGT Medical College Hospital and ResearchInstitute, Gurugram was 2500. There were 8 babies born with NTDs (5 female and 4 male). Overall incidence ofNTDs in the present study was 3.2/1000 births with female preponderance. The incidence of fetuses withanencephaly, myelocele, meningomyelocele, craniorachischisis and encephalocele were 0.8, 1.2, 0.4, 0.4, and0.4 per 1000 births respectively.Conclusion: Birth defects like Neural Tube Defects are easily detected by routine screening tests like USG in firstand second trimester of pregnancy. Public health measures like preconception folic acid supplements andincreasing awareness about maternal care during pregnancy needs to be highlighted to decrease the incidenceof congenital anomalies and their comorbidities.

Comprehensive Study of Neural Tube Defects in 1000 Foetuses with Clinical Spectrum.

Introduction: A variety of malformations are included under the description of Neural tube defects (NTDs). These are abnormalities of the embryonic neuralization process. The congenital malformations of human structure and are of great interest to anatomists, obstetricians, pediatricians and radiologists. NTDs are among the commonest and most severe disorders, affecting 0.5-2 per 1000 established pregnancies, and are second commonest group of birth defects, after congenital heart defects. A valuable contribution of this study, the neural tube defects aimed at clinical methods and refined for the prenatal diagnosis in utero. Materials and Methods: This comprehensive study was undertaken to know the incidence of detail knowledge of neural tube defects in KIMS Narketpally and KAMS & RC Hyderabad, among 1000 births during the period of two years. We found seven fetuses with neural tube defects involving brain and spinal cord. A detailed study was done emphasizing on embryology and genetic and non-genetic concepts. Results & Conclusion: The seven fetuses were stillbirths and aborted babies between 20 to 40 weeks, presented with neural tube defects (0.7%). Five fetuses were females and two fetuses were males. The spinal defects were 0.4%, cranial defects 0.2% and complete neural tube defects is 0.1%. This review article discusses the classification, clinical research and epidemiological understanding of NTDs and correlated with the available literatures.

Effect of maternal Tp53 gene G412C polymorphism on neural tube defects: A study from North India.

Context: Tumor protein 53 (tp53) is one of the candidate gene proposed for neural tube defects, which affects central nervous system during early embryonic development, on the basis of mouse models. Aims: The present study is an attempt to unfold the possible role of tp53 G412C polymorphism in the incidence of neural tube defect (NTDs) in humans. Settings and Design: Case-control study was carried out in government hospitals of Delhi, India. Materials and Methods: Subjects comprised of 100 mothers of NTD children and 100 matched control mothers. Information on some environmental exposures was collected along with blood samples. After DNA extraction, the genotyping of tp53 G412C polymorphism was carried out by PCR-RFLP method. Statistical Analysys: Fisher Exact or Chi square test, binary logistic model, and odds ratio (95% confidence interval) calculations were used to evaluate effect of risk factors on NTDs using SPSS v17.0. Results: The 'CC' genotype of tp53 G412C showed protective effect towards the development of anencephaly and/or encephalocele (OR: 0.44; 95% CI: 0.19-1.00); however, no significant difference among overall NTD cases and controls was observed (P>0.05). Further segregation of all subjects based on 2 different communities, Hindus and Muslims, the association of 'CC' genotype of the polymorphism with reduced NTD risk was observed among Hindu community (OR: 0.33; 95% CI: 0.13-0.79). Conclusion: The study highlights the selective advantage provided by maternal 'CC' genotype, thereby reducing risk of cephalic NTDs, probably due to the lower apoptotic activity of the protein, however, more specifically in the presence of community-specific microenvironment.

Neural tube defects between folate metabolism and genetics.

Neural tube defects (NTDs) are the second most common severely disabling human congenital defects. Worldwide, NTDs incidence is approximately one per 1000 live births and varies between 0.78 and 12 per 1000 births in general populations. NTDs causation involves multiple genes, nutritional and environmental factors. Research in the next stage should include bigger populations and bigger studies that would be suitable to detect significant links and conclusions with relatively minor risk factors; analysis of multiple candidate genes to detect potential gene-gene interactions; detailed analysis of patient samples stratified by phenotype.

Study on neural tube defects of neonates and folic acid awareness at a Teaching Hospital in Sri Lanka.

Objectives: To assess awareness and knowledge of folic acid (FA), educate about importance of using of pre-conceptional FA, find out the common source of information about FA and identify some epidemiological characteristics of neural tube defects (NTDs) Setting: Teaching Hospital, Kandy Method: A case control study was carried out for 17 months from July 2002 of all newborns with NTDs delivered at General Hospital (GH) Kandy and newborns with NTDs transferred from other hospitals. An age and sex matched group of babies born at GH Kandy with no obvious abnormalities was selected as the control. To increase statistical confidence we took 3 controls for 1 case. A pre-tested questionnaire was administered to obtain data. While interviewing, we counselled all mothers about value of pre-conceptional FA usage. Results: During the study period 14,580 live births took place at GH Kandy and twenty of them had NTDs. The number of babies with NTDs transferred from other hospitals was 30. The control group comprised 150 mothers with normal babies. Fourteen (28%) of the affected group were able to identify folic acid tablet as a vitamin taken during pregnancy, in comparison to 87 (58%) of the control group. One (2%) from the affected group and 70 (46%) from the control group knew about the value of pre-conceptional FA. None of the affected mothers had used FA pre-conceptionally whereas 20 (13%) of the control group had used it. Four (8%) of the affected mothers identified preventing birth defects as the primary reason to take FA whereas 54 (26%) of the control group mothers believed that folic acid helped in preventing birth defects. Awareness of FA usage came mainly from midwives. Conclusions: Knowledge and use of FA in relation to pregnancy were grossly inadequate especially among mothers who had affected babies.