The etiology of spina bifida, a neural tube birth defect, is largely unknown, but a majority of cases are thought to be genetic in origin. Although maternal blood type was found not to be associated with the occurrence of spina bifida, the analysis was never extended to other aspects of the disorder. The purpose of this descriptive study was to determine if maternal blood type was related to characteristics of children with spina bifida. The blood type of 221 mothers of children with spina bifida enrolled on the Arkansas Spinal Cord Disability Registry from 1995 to 2008 was obtained by mailed questionnaire. All children were community-dwelling and from singleton pregnancies. As expected, analysis of mother-child data showed that the distribution of mothers\' blood type was not statistically different from the general population (chi-squared, P = 0.9203). However, the blood type of these mothers was associated with their child\'s lesion level (chi-squared, P = 0.011). Mothers with blood type A more frequently had children with thoracic lesions; mothers with non-A blood types more frequently had children with lumbar and sacral lesions. In addition, mean birthweight differed by mothers\' blood type (analysis of variance, P = 0.025). Children of mothers with blood type A had the highest mean birthweight, while those of mothers with blood type AB had the lowest. Also, hydrocephalus was present more frequently in children with thoracic lesions compared to those with lumbar and sacral lesions (chi-squared, P = 0.001). Interestingly, these results were significant for female children but not for male children. In conclusion, maternal blood type was associated with lesion level and birthweight of children with spina bifida.

Background: Supplementing folic acid (FA) before and in the first month of conception is an essential preventive factor, especially for neural tube defects (NTDs) and other congenital anomalies. Aim: The research aimed to assess FA supplement prescribing practice during the protective period and its associated factors among health professionals in selected governmental health centers in Addis Ababa, Ethiopia, in 2023. Methods: An institutionalized cross-sectional survey was carried out in Addis Ababa public health centers with a total sample size of 396 in February 2023. Systematic random sampling methods were used, and after each respondent\'s signed consent, a row of data was gathered using pretested self-administered questionnaires. The data was coded, interred to Epi Data 4.6.0.6 and transferred to Statistical Package for Social Sciences 27 software. Then a binary and multivariable logistic regression analysis method was used to show the associated variables with FA prescribing practice using a confidence interval (CI) of 95% and a significance value < 0.05. Results: The total prevalence of FA prescribing practice during the periconceptional period was 64.4% [95% CI (59.68-69.12)]. But those prescribed during the protective period were 26.7%. Ever since the birth of a neonate with NTDs, not prescribing a dose of 4 mg of FA for women with NTD, the type of women for whom FA was prescribed were associated with FA prescribing practice during the protective period. Conclusion: The healthcare professional\'s prescribing practice during the protective period was still low and needs more attention to strengthen FA supplements.

The health benefits of vitamin B9 (folate) are well documented, particularly in regard to neural tube defects during pregnancy; however, much remains to be learned regarding the health effects and risks of consuming folic acid supplements and foods fortified with folic acid. In 2020, our laboratory conducted a population-based analysis of the Food Fortification Initiative (FFI) dataset to determine the strength of the evidence regarding the prevalence of neural tube defects (NTD) at the national level in response to mandatory fortification of cereal grains with folic acid. We found a very weak correlation between the prevalence of NTDs and the level of folic acid fortification irrespective of the cereal grain fortified (wheat, maize, or rice). We found a strong linear relationship between reduced NTDs and higher socioeconomic status (SES). Our paper incited a debate on the proper statistics to employ for population-level data. Subsequently, there has been a large number of erroneous citations to our original work. The objective here was to conduct a bibliometric analysis to quantitate the accuracy of citations to Murphy and Westmark\'s publication entitled, \"Folic Acid Fortification and Neural Tube Defect Risk: Analysis of the Food Fortification Initiative Dataset\". We found a 70% inaccuracy rate. These findings highlight the dire need for increased rigor in citing scientific literature, particularly in regard to biomedical research that directly impacts public health policy.

BACKGROUND: The association between extreme ambient heat exposures during pregnancy and neural tube defects (NTDs) in offspring remains unclear. This study sought to estimate the association between exposure to extreme ambient heat during periconception and NTDs.
METHODS: This population-based case-control study in Georgia, USA (1994-2017) included 825 isolated NTD cases (473 anencephaly, 352 spina bifida) and 3,300 controls matched 1:4 on county of residence and time period of delivery. Daily ambient temperature data were linked to fetal death and birth records by county of residence. Extreme ambient heat exposure was defined as the number of consecutive days the daily apparent temperature exceeded the county-specific 95th percentile (derived over 1980-2010) during an eight-week periconception period. We calculated adjusted odds ratios (aORs) and 95% confidence intervals (CI) using conditional logistic regression models adjusted for maternal age, education, and ethnicity and month and year of last menstrual period.
RESULTS: The aORs for NTDs were 1.09 (95% CI 1.01, 1.17), 1.18 (95% CI 1.03, 1.36), and 1.29 (95% CI 1.04, 1.58) for exposure to 1-2, 3-5, and 6 or more consecutive days with apparent ambient temperatures exceeding the county-specific 95th percentile during periconception, respectively, compared to no days of extreme ambient heat exposure. Weekly analysis of extreme heat exposure indicated consistently elevated odds of offspring NTDs during periconception. These results were largely driven by spina bifida cases.
CONCLUSIONS: Our results highlight potential health threats posed by increasing global average temperatures for pregnant people with implications for increased risk of neural tube defects in their offspring.

BACKGROUND: Children affected by tethered cord syndrome (TCS) encounter multifaceted challenges encompassing educational, familial and social spheres, underscoring the significance of a holistic comprehension of their subjective emotional well-being and life encounters. Nonetheless, healthcare professionals tend to prioritise the physical functionality of the afflicted individuals throughout the treatment and rehabilitation process, often neglecting the emotional experiences and requirements of these children as they transition into posthospitalization phases.
OBJECTIVE: To advance the subjective experiences and perceptions of children with TCS upon reintegration into their families, educational institutions and wider societal contexts subsequent to their discharge from medical facilities.
METHODS: The study was conducted at the Children\'s Hospital in Zhejiang. Twelve children aged 8-15 with TCS were included in the study. The research design used an interpretative qualitative approach, utilising semi-structured interviews as the primary data collection method. Data analysis was performed using reflexive thematic analysis, facilitating a comprehensive exploration of emerging themes and patterns.
RESULTS: Four major themes (and seven subthemes) were identified from the findings: (1) growing pains (a shameful secret, distance between ideal and reality); (2) inappropriate expressions of familial affection (knowing is not understanding, unspeakable guilt); (3) social estrangement (uncomfortable distinctions, familiar stranger) and (4) striving for independence and consistency.
CONCLUSIONS: Children affected by TCS exhibit internal sensitivity and challenges in self-development, family dynamics and social interactions. They aspire to attain a future characterised by independence and freedom, akin to that of their typically developing peers. These findings can help health professionals, families and educators gain a deeper understanding of what it takes to be a child with TCS, and the findings can also serve as a platform for interventions that seek to promote self-expression in these children so that they can experience life as a meaningful and positive process.
UNASSIGNED: This study received support from children with TCS and their guardians during data collection, as well as from the head nurse of the unit. Coresearchers also contributed to design, data collection, analysis and writing.

Potential associations between periconception dolutegravir (DTG) exposure and neural tube defects (NTDs) reported in 2018 caused shifting international and national antiretroviral treatment (ART) guidelines. They sometimes required women to use contraception prior to initiating DTG. To better understand the tensions between ART and family planning (FP) choices, and explore the decision-making processes of women living with HIV (WLHIV) and their healthcare providers (HCPs) employed, we conducted interviews with WLHIV exposed to DTG and their providers in western Kenya from July 2019 to August 2020. For the interviews with WLHIV, we sampled women at varying ages who either continued using DTG, switched to a different ART, or became pregnant while using DTG. We utilized inductive coding and thematic analysis. We conducted 44 interviews with WLHIV and 10 with providers. We found four dominant themes: (1) a range of attitudes about birth defects, (2) nuanced knowledge of DTG and its potential risk of birth defects, (3) significant tensions at the intersection of DTG and FP use with varying priorities amongst WLHIV and their providers for navigating the tensions, and (4) WLHIV desiring autonomy, and provider support for this, in such decision-making. Variations in beliefs were noted between WLHIV and HCPs. WLHIV highlighted the impact of community and social beliefs when discussing their attitudes while HCPs generally reported more medicalized views towards DTG utilization, potential adverse outcomes, and FP selection. Decisions pertaining to ART and FP selection are complex, and HIV treatment guidelines need to better support women\'s agency and reproductive health justice.

UNASSIGNED: Our study aimed to assess the association between UCP2 gene 3\' untranslated region insertion/deletion (3\'UTR I/D) and A55V (alanine/valine) polymorphisms and neural tube defects (NTDs) susceptibility.
UNASSIGNED: According to pre-determined inclusion and exclusion criteria, the article search was conducted to search articles published before October 2023. Two authors independently screened the included articles and extracted their basic characteristics. After quality evaluation, the meta-analysis and trial sequential analysis (TSA) were conducted using RevMan 5.4, Stata/MP 17, and TSA 0.9.5.10 Beta. Subgroup analysis was conducted based on country and case group composition. Sensitivity analysis was conducted using a one-by-one exclusion method. Begg\'s and Egger\'s tests were used to evaluate publication bias.
UNASSIGNED: A total of seven articles were included. Overall meta-analysis revealed significant heterogeneity among the included studies for 3\'UTR I/D polymorphism of the UCP2 gene. Significant statistical data indicated that those with the DD genotype and D allele had higher chances of NTD compared to those with the II genotype and the I allele, respectively. The combined result of II vs. ID was not statistically significant. A55V variation showed no statistical significance in the risk of NTD, despite the absence of significant heterogeneity across the included studies. Most of the heterogeneity was resolved after subgrouping, and a higher risk of the ID genotype was found than the II genotype for Chinese people. Genotyping NTD patients or their mothers was not a factor affecting the heterogeneity. Sensitivity analysis and publication bias analysis suggested that positive findings supported our results.
UNASSIGNED: The UCP2 gene 3\'UTR I/D polymorphism increased the likelihood of developing NTDs in the Chinese population, with the D allele being the risk factor, which contributed to the understanding of the genetic basis of NTDs. TSA indicated that more high-quality original studies were needed in the future for further validation.

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The primary purpose of this study was to enhance the understanding of diastematomyelia, with a particular focus on adult-onset cases, which are infrequent and not fully elucidated. Additionally, the study sought to analyse the clinical features, diagnostic characteristics, and surgical interventions employed to manage the condition. This retrospective case series aimed to investigate diastematomyelia, a rare congenital deformation affecting the spinal cord. The study included 16 patients diagnosed with diastematomyelia, consisting of 13 pediatric cases (mean age: 7.6 years, age range: 5 months to 13 years) and 3 adult cases (mean age: 36 years, age range: 26 to 48 years). Among the paediatric cases, 9 were females, and 4 were males, while the adult cohort comprised 2 males and 1 female. The study design involved a thorough review of medical records, imaging reports, and surgical outcomes without specific inclusion or exclusion criteria. Surgical intervention emerged as the primary treatment modality for all cases, except one. Following surgical intervention, significant improvements were observed in pain management, motor function, and bladder control. Furthermore, additional findings indicated the presence of Dural Ectasia and Vertebral segmentation defects among the study population. This retrospective case series sheds light on the clinical features and surgical outcomes of diastematomyelia in both pediatric and adult patients. The findings underscore the importance of surgical intervention in alleviating symptoms and enhancing motor coordination and bladder control.

BACKGROUND: jinkui Shenqi Pill (JSP) is a classic traditional Chinese medicine used to treat \"Kidney Yang Deficiency\" disease. Previous studies indicate a protective effect of JSP on apoptosis in mouse neurons.
OBJECTIVE: This research, combining network pharmacology with in vivo experiments, explores the mechanism of JSP in preventing neural tube defects (NTDs) in mice.
METHODS: Network pharmacology analyzed JSP components and targets, identifying common genes with NTDs and exploring potential pathways. Molecular docking assessed interactions between key JSP components and pathway proteins. In an all-trans retinoic acid (atRA)-induced NTDs mouse model, histopathological changes were observed using HE staining, neuronal apoptosis was detected using TUNEL, and Western Blot assessed changes in the PI3K/AKT signaling pathway and apoptosis-related proteins.
RESULTS: Different concentrations of JSP led to varying degrees of reduction in the occurrence of neural tube defects in mouse embryos, with the highest dose showing the most significant decrease. Furthermore, it showed a better reduction in NTDs rates compared to folic acid (FA). Network pharmacology constructed a Drug-Active Ingredient-Gene Target network, suggesting key active ingredients such as Quercetin, Wogonin, Beta-Sitosterol, Kaempferol, and Stigmasterol, possibly acting on the PI3K/Akt signaling pathway. Molecular docking confirmed stable binding structures. Western Blot analysis demonstrated increased expression of p-PI3K, p-Akt, p-Akt1, p-Akt2, p-Akt3, downregulation of cleaved caspase-3 and Bax, and upregulation of Bcl-2, indicating prevention of NTDs through anti-apoptotic effects.
CONCLUSIONS: We have identified an effective dosage of JSP for preventing NTDs, revealing its potential by activating the PI3K/Akt signaling pathway and inhibiting cell apoptosis in atRA-induced mouse embryonic NTDs.