Prevention Of Defects Research Articles

Deriving the Importance of Defects in Multi-Unit Residential Buildings Using the Analytic Hierarchy Process Method

Defects in apartment buildings significantly impact the convenience and safety of residents, and their prevalence has been steadily increasing. This study prioritizes the key defects in apartment buildings to enhance quality management. The primary causes of defects were identified by focusing on frequently occurring issues such as tile installation, flooring, wallpaper, PL windows, and kitchen furniture. A literature review was conducted to analyze the main types of defects, and expert focus group interviews were held to investigate the causes of defects and potential countermeasures. Following this, the analytic hierarchy process was employed to assess the relative importance of these defects and establish their prioritization. The findings indicated that structural issues and material-related factors, particularly flooring and window installation, were the primary causes. Based on these insights, this study proposes a strategic approach to improving quality management in apartment buildings. This research serves as a valuable reference for developers, contractors, and policymakers in defect prevention and management.

Antioxidants and the Prevention of Congenital Heart Defects

Congenital heart defects (CHDs) are among the most prevalent congenital anomalies, contributing significantly to neonatal morbidity and mortality. Emerging evidence indicates that oxidative stress is a key factor in the etiology of CHDs, as increased levels of reactive oxygen species (ROS) during critical periods of fetal development can lead to cellular damage and impaired cardiac morphogenesis. This narrative review explores the mechanisms by which oxidative stress contributes to the development of congenital heart defects and highlights the role of antioxidants in mitigating these effects. Antioxidants, including vitamins C and E, selenium, and coenzyme Q10, have demonstrated potential in reducing oxidative damage and supporting maternal and fetal health. Their ability to neutralize ROS can help protect developing cardiac tissues from oxidative injury, thereby promoting normal cardiac development. This review examines current research on the impact of antioxidant supplementation on pregnancy outcomes and its implications for preventing congenital heart defects. Keywords: Antioxidants, congenital heart defects, oxidative stress, maternal health, prenatal nutrition

Interoperable information modelling leveraging asset administration shell and large language model for quality control toward zero defect manufacturing

In the era of Industry 4.0, Zero Defect Manufacturing (ZDM) has emerged as a prominent strategy for quality improvement, emphasizing data-driven approaches for defect prediction, prevention, and mitigation. The success of ZDM heavily depends on the availability and quality of data typically collected from diverse and heterogeneous sources during production and quality control, presenting challenges in data interoperability. Addressing this, we introduce a novel approach leveraging Asset Administration Shell (AAS) and Large Language Models (LLMs) for creating interoperable information models that incorporate semantic contextual information to enhance the interoperability of data integration in the quality control process. AAS, initiated by German industry stakeholders, shows a significant advancement in information modeling, blending ontology and digital twin concepts for the virtual representation of assets. In this work, we develop a systematic, use-case-driven methodology for AAS-based information modeling. This methodology guides the design and implementation of AAS models, ensuring model properties are presented in a unified structure and reference external standardized vocabularies to maintain consistency across different systems. To automate this referencing process, we propose a novel LLM-based algorithm to semantically search model properties within a standardized vocabulary repository. This algorithm significantly reduces manual intervention in model development. A case study in the injection molding domain demonstrates the practical application of our approach, showcasing the integration and linking of product quality and machine process data with the help of the developed AAS models. Statistical evaluation of our LLM-based semantic search algorithm confirms its efficacy in enhancing data interoperability. This methodology offers a scalable and adaptable solution for various industrial use cases, promoting widespread data interoperability in the context of Industry 4.0.

Unveiling the neonatal gut microbiota: exploring the influence of delivery mode on early microbial colonization and intervention strategies.

Recent research has emphasized the critical importance of establishing the neonatal gut microbiota for overall health and immune system development, prompting deeper studies about the early formation of neonatal gut microbiota and its influencing factors. Various factors, including maternal and environmental factors, affect the early formation of neonatal gut microbiota, in which delivery mode has been considered as one of the most crucial influencing factors. In recent years, the increasing trend of cesarean section during childbirth has become a serious challenge for global public health. This review thoroughly analyzes the effects of vaginal delivery and cesarean section on the establishment of neonatal gut microbiota and the potential long-term impacts. In addition, we analyze and discuss interventions such as probiotics, prebiotics, vaginal seeding, fecal microbiota transplantation, and breastfeeding to address the colonization defects of the neonatal gut microbiota caused by cesarean section, aiming to provide theoretical basis for the prevention and treatment of colonization defects and related diseases in infants caused by cesarean section in clinical practice and to provide a theoretical foundation for optimizing the development of neonatal gut microbiota.

Real-time 3D temperature field reconstruction for aluminum alloy forging die using Swin Transformer integrated deep learning framework

Temperature field distribution in forging dies is crucial for quality control and defect prevention, particularly for aluminum alloys. Current methods are limited to discrete points or surface measurements, making real-time three-dimensional temperature field acquisition challenging. In this paper, a novel Swin Transformer-integrated deep learning framework is proposed for real-time 3D temperature field reconstruction of forging dies, pioneering the application of transformer architecture in physical field prediction. In this framework, numerical simulations are first conducted to provide ground truth and fundamental insights into the temperature evolution, and then limited sparse thermal sensors are utilized to offer corrected real-time input parameters. The model for 3D temperature field reconstruction is developed through the combination of Swin Transformers with the U-shaped encoder-decoder structure, which is trained and tested with various sensor configurations, initialization methods, and datasets, including actual experiments. The results demonstrate that the proposed Swin-UNETR model achieves 3D temperature field prediction with time cost of 0.98 s per frame, mean absolute error of 0.8658 °C, showing a 17.23 % improvement over the next best CNN-based model (ResUNet3D at 1.0461 °C), and a 4.63 % improvement over the next best machine learning model (LightGBM at 0.9078 °C), which can be attributed to the Swin Transformer’s ability to capture both local and global contextual information and shifted window mechanism. The proposed method holds significant implications for ensuring the forming quality of forgings and propelling the development of digital twin technology in forging processes.

Integrating Quality at Source into Supplier Management: A Pathway to Cost Efficiency and Regulatory Compliance

In an increasingly competitive global market, organizations are seeking to enhance both cost efficiency and regulatory compliance in their supply chains. This paper explores the integration of Quality at Source (Q@S) into supplier management as a strategic pathway to achieve these goals. Quality at Source is a proactive approach that emphasizes defect prevention and quality assurance at the earliest stages of production, specifically at the supplier level. By embedding Q@S principles within supplier management, companies can not only reduce the financial burden associated with defect detection and correction but also mitigate risks associated with non-compliance with industry regulations. The study identifies key benefits of Q@S, including cost savings through reduced waste, improved production efficiency, and minimized need for extensive downstream quality control. Additionally, it demonstrates how Q@S facilitates regulatory compliance by ensuring that quality standards are met consistently, thus simplifying audits and reducing the likelihood of penalties. The paper details a framework for Q@S implementation, covering essential steps such as supplier selection, establishing quality metrics, conducting regular audits, and fostering a culture of continuous improvement among suppliers. Through a combination of case studies and data-driven insights, the paper illustrates the tangible benefits of Q@S integration. Real-world examples showcase successful applications of Q@S across different industries, highlighting significant cost reductions and enhanced compliance. Furthermore, this research discusses the challenges companies may face, such as initial investment costs and resistance to change from suppliers, and provides strategies for overcoming these barriers. The paper concludes by examining the role of advanced digital technologies—such as artificial intelligence (AI), Internet of Things (IoT), and blockchain—in furthering Q@S initiatives. These technologies enable real-time monitoring and data transparency, enhancing the capacity of organizations to track supplier performance and maintain quality standards. The findings underscore the importance of Quality at Source as an essential component of modern supplier management, providing a roadmap for organizations aiming to achieve cost-effective, compliant, and sustainable supply chains.

EPID-07. MAJOR CONGENITAL ANOMALIES AND RISK OF CHILDHOOD BRAIN TUMORS IN 9 STATES

Abstract Children with congenital anomalies have a higher risk of developing a childhood brain tumor (CBT), but it remains unclear if associations vary by cancer histology, which could inform our understanding of these associations. Thus, we characterized co-occurrences of major congenital anomalies with six CBTs. We leveraged a population-based registry linkage study of live births, congenital anomalies, and cancer from nine states. Dates of birth and last follow-up varied by state, ranging between January 1, 1990 to December 31, 2018, for a total of 22,599,099 live births. CBT classification was based on the International Classification of Childhood Cancer for children diagnosed up to age 18 years. Major congenital anomalies were classified based on the National Birth Defects Prevention Network Surveillance Guidelines. Children with any genetic anomalies were excluded. We used Cox regression to evaluate associations between major congenital anomalies and astrocytoma, medulloblastoma, ependymoma, atypical teratoid/rhabdoid tumor (ATRT), primitive neuroectodermal tumors (PNET), and mixed and unspecified gliomas (“mixed gliomas”), adjusting for sex, state, maternal education, maternal race/ethnicity, and maternal age. Sensitivity analyses were conducted stratifying by number of major anomalies (0, 1, 2+) and age at cancer diagnosis (<1, 1-4, 5-9, 10+ years). There were 5,685 diagnosed with any CBT. Having any major congenital anomaly was significantly associated with astrocytoma, ATRT, medulloblastoma, mixed glioma, and PNET (aHR range: 1.79-5.78) but not ependymoma. When stratified by number of major anomalies, effect estimates were similar. Due to small numbers when stratified by age at cancer diagnosis, unadjusted analyses were conducted. Associations were strongest in children diagnosed with astrocytoma, ATRT, medulloblastoma, mixed glioma, or PNET before age 1 (HR range: 3.03-5.47) compared to other age groups (HR range: 1.25-3.07). Children with any major congenital anomaly have an increased risk of developing astrocytoma, ATRT, medulloblastoma, mixed glioma, or PNET, particularly by 1 year.

Compliance to iron folic acid consumption and factors associated among antenatal care attendant mothers in southern Ethiopia

Iron and folic acid (IFA) consumption is an important strategy for the prevention of birth defects and anemia during pregnancy. In Ethiopia, low proportion of pregnant mothers took an iron tablet for 90 plus days. Therefore, the aim of this study was to assess compliance to IFA consumption and its associated factors among mothers attending antenatal care in Southern Ethiopia, 2021. An institution-based cross-sectional study triangulated with qualitative methods was conducted. The data was collected data from 378 respondents selected by a simple random sampling technique and 21 in-depth interviews were conducted. Epi Data version 3.1 was used to enter data, which was then exported to Statistical Package for the social Science (SPSS) version 21 for further processing and analysis. Bivariable and multivariable logistic regression analyses were carried out to identify the significant association. Variables with a P-value of less than 0.05 were considered significant. The Open code software version 4.03 was used to code and categorize qualitative data, and then thematic analysis was employed to qualitative data. The compliance rate of IFA consumption was 66.58% 95% CI: 61.5-71.4%) Maternal education (AOR: 3.01, 95%CI:1.29, 6.35), knowledge about anemia (AOR: 2.63, 95% CI:1.29), 5.37), knowledge about IFA (AOR: 2.95, 95% CI (1.45, 6.02)), ANC visits (AOR: 2.70, 95% CI 1.17, 6.22), fear of side effect (AOR: 0.08, 95% CI:0.02, 0.24), registration time for initiation of ANC visits (AOR:4.63, 95% CI:1.50, 14.26), and counseling on IFA (AOR:3.95, 95% CI:1.57, 9.98) were significantly associated with compliance IFA consumption of the pregnant mothers. Supplement-related, pregnancy and experience-related, facility related, behavioral -related, perceived family support, and perceived cultural belief findings were identified from qualitative study. In this study, the compliance with IFA consumption was low and influenced by huge range factors. To improve compliance with IFA, health workers provide proper counseling and education for pregnant women on IFA and follow up supplementation.

Society for Birth Defects Research and Prevention Symposium: Health Disparities Within Communities of Color.

High-risk pregnancies and birth defects are often greater within communities of color where resources for a healthy pregnancy are generally lacking. Infant and maternal mortality, preterm birth, and instances of increased developmental and physical defects are related to environmental exposures (e.g., pesticides, lead in water, wildfire smoke), dietary additives, and lack of access to adequate healthcare. More frequently people of color and other under-served groups, are affected by historical inequality and unconscious bias. Compounding these disparities, research into these issues and efforts to address them are poorly supported. The speakers in this symposium presented evidence for health disparities within communities of color to foster research aimed at identifying toxic levels of potentially hazardous dietary chemicals, or exposures in the pediatric population can focus on addressing the current inadequacy of translating scientific findings into enforceable policies. The disparities discussed within this symposium highlighted key areas in desperate need of policy reform. In the United States, regulatory exposure levels have been established for lead exposures but frequently exceed these limits without mitigation. Neural tube defects can be prevented by a simple dietary solution such as fortification of staple foods with folic acid. Recent literature on gender as a social determinant of health has determined women suffer more negative health consequences due to social attitudes. Ultimately, this symposium provided an understanding of the experience of disadvantaged and marginalized persons during pregnancy, illustrated the disparities that exist in reproductive health, and described the need to address and prevent them.

Osteogenic citric acid linked chitosan coating of 3D-printed PLA scaffolds for preventing implant-associated infections

>25 % of the patients who receive orthopedic implants have been reported with implant-associated osteomyelitis, which can result in inflammation, osteolysis, and aseptic loosening of implants. Current treatment methods doesn't ensure defect healing and prevention from reinfection. Thermoplastic-based 3D-printed scaffolds offer a bioresorbable, biocompatible, and mechanical strong implant system. However, the hydrophobicity and bio-inertness of these polymers prevent their use in clinics. In this study, we developed dual functionalized scaffolds with osteogenic and antibacterial properties by immobilizing citric acid-linked chitosan on oxygen plasma etched 3D-printed PLA scaffolds through an EDC-NHS coupling reaction. Acellular mineralization of these scaffolds in DMEM demonstrated the deposition of crystalline hydroxyapatite. In addition, the antibacterial properties of these surface-modified scaffolds have been determined against E. coli and S. aureus, where the citric-linked chitosan biofunctionalized 3D-printed PLA scaffolds showed significantly higher antibacterial activity in comparison to oxygen-etched PLA and PLA scaffolds due to the synergistic effect of citric acid and chitosan functionalities. MG-63 cells exhibited increased proliferation and osteogenic activity on the modified scaffolds compared to the PLA and OP-PLA. These 3D-printed scaffolds, coated with citric-linked chitosan, can be a potential solution to orthopedic complications such as critical-sized bone defects and implant-associated osteomyelitis.

Advanced AI Technologies for Defect Prevention and Yield Optimization in PCB Manufacturing

The integration of Advanced Artificial Intelligence (AI) technologies in Printed Circuit Board (PCB) manufacturing has revolutionized the industry, offering significant improvements in defect prevention and yield optimization. As PCB manufacturing processes become increasingly complex and intricate, traditional methods of defect detection and quality assurance are often insufficient to meet the high demand for precision and efficiency. This paper explores the application of cutting-edge AI methodologies, including machine learning, computer vision, and neural networks, to address critical challenges in PCB production. The primary focus of this research is on the role of AI in enhancing automated defect detection systems and optimizing production yield. AI-based systems such as predictive maintenance, real-time process monitoring, and intelligent decision-making have been shown to drastically reduce defects while improving overall production throughput. Machine learning algorithms can identify subtle defects in real time, often undetectable by conventional methods, while neural networks can analyze historical data to predict potential failures before they occur. Additionally, AI-driven optimization techniques help manufacturers adjust production parameters dynamically, ensuring higher yields and minimizing waste. Through a combination of theoretical analysis and case studies, this paper highlights the effectiveness of AI-driven solutions in PCB manufacturing. Results from industry applications indicate significant improvements in both quality control and yield rates, providing a competitive edge to manufacturers adopting these technologies. Furthermore, this paper discusses future trends, including the integration of AI with the Internet of Things (IoT), edge computing, and sustainable manufacturing practices, which will further enhance the capabilities of AI systems in this field. The findings suggest that advanced AI technologies are not only capable of overcoming existing challenges in defect prevention but also hold the potential to reshape the future of PCB manufacturing by offering highly adaptive, precise, and efficient solutions. This research underscores the transformative impact of AI in modernizing manufacturing processes, making it an indispensable tool for the future of the PCB industry.

Conformal SnO2 and NiOx charge transport layers for pragmatic air-processed perovskite solar cells

The industrialization of perovskite (PVK) solar cells (PSCs) necessitates simple manufacturing, cheapness, nontoxicity, high efficiency, and stability. We report an air-processed lead halide PSCs with cheap, nontoxic, stable NiOx and SnO2 as the hole and electron transport layers separately, to meet all the above commercial requests. By preparing the NiOx (water-dispersible) and SnO2 (oil-dispersible) quantum dots (QDs) with good conductivity and energy band matched well with that of PVK, we fabricate inverted PSCs (ITO/NiOx/PVK/SnO2/Ag) with efficiency up to 20.1/14.6% for active areas of 0.0707/1 cm2, under 1 sun simulated illumination with enhanced UV light ratio. The UV-light resistant PSCs reported here will impel their application in the high altitude areas with strong UV light. Importantly, the monodisperse size and dominant (110) plane of SnO2 QDs achieved by controlling the solvothermal parameters, realize the conformal deposition and defect prevention of SnO2, respectively, thus improving the PSC efficiency and stability.

Formation Mechanism and Prevention of Cu Undercut Defects in the Photoresist Stripping Process of MoNb/Cu Stacked Electrodes

The Cu undercut is a recently discovered new defect generated in the wet stripping process of MoNb/Cu gate stacked electrodes for thin-film transistors (TFTs). The formation mechanism and preventive strategy of this defect were identified and investigated in this paper. The impact of stripper concentration and stripping times on the morphology and the corrosion potential (Ecorr) of Cu and MoNb were studied. It is observed that the undercut is Cu tip-deficient, not the theoretical MoNb indentation, and the undercut becomes severer with the increase in stripping times. The in-depth mechanism analysis revealed that the abnormal Cu undercut was not ascribed to the galvanic corrosion between MoNb and Cu but to the local crevice corrosion caused by the corrosive medium intruding along the MoNb/Cu interface. Based on this newly found knowledge, three possible prevention schemes (MoNiTi (abbreviated as Mo technology development (MTD) layer/Cu), MoNb/Cu/MTD, and MoNb/Cu/MoNb) were proposed. The experimental validation shows that the Cu undercut can only be completely eliminated in the MoNb/Cu/MTD triple-stacked structure with the top MTD layer as a sacrificial anode. This work provides an effective and economical method to avoid the Cu undercut defect. The obtained results can help ensure TFT yield and improve the performance of TFT devices.

Maternal Medication Use in Pregnancy: A Narrative Review on Assessing and Communicating the “Risk” of Birth Defects to the Patient

The state of knowledge regarding the teratogenic effects of maternal use of medications during pregnancy is constantly evolving and is often uncertain. Timely access to high-quality information may reduce prolonged harmful exposures, decrease the number of preventable birth defects, empower patients with accurate information about the risks of exposure, and prevent unnecessary patient anxiety and pregnancy termination. In this narrative review, we describe the process by which the teratogenic risk of medications is assessed by experts in medicine, genetics, and epidemiology and how identifiable risks can be effectively communicated to patients. Risk assessment of birth defects in human pregnancy involves collecting and synthesizing available data through a proper and rule-driven evaluation of scientific literature. Expert consensus is a practical approach to determine whether a given exposure produces damage after careful consideration of gestational timing, dose and route of the exposure, maternal and fetal genetic susceptibility, as well as evidence for biological plausibility. The provision of teratogen risk counseling through appropriate interpretation of information and effective knowledge translation to the patient is critical for the prevention of birth defects and maximizing healthy pregnancies.

Artificial Intelligence‐Augmented Additive Manufacturing: Insights on Closed‐Loop 3D Printing

The advent of 3D printing has transformed manufacturing. However, extending the library of materials to improve 3D printing quality remains a challenge. Defects can occur when printing parameters like print speed and temperature are chosen incorrectly. These can cause structural or dimensional issues in the final product. This review investigates closed‐loop artificial intelligence‐augmented additive manufacturing (AI2AM) technology that integrates AI‐based monitoring, automation, and optimization of printing parameters and processes. AI2AM uses AI to improve defect detection and prevention, improving additive manufacturing quality and efficiency. This article explores generic 3D printing processes and issues using existing research and developments. Next, it focuses on fused deposition modeling (FDM) printers and reviews their parameters and issues. The current remedies developed for defect detection and monitoring in FDM 3D printers are presented. Then, the article investigates AI‐based 3D printing monitoring, closed‐loop feedback systems, and parameter optimization development. Finally, closed‐loop 3D printing challenges and future directions are discussed. AI‐based systems detect and correct 3D printing failures, enabling current printers to operate within optimal conditions and minimizing the risk of defects or failures, which in turn leads to more sustainable manufacturing with minimum waste and extending the library of materials.

Clinical strategy study on prenatal screening and diagnostic model for Down syndrome

Exploring efficient and easily implementable prenatal screening strategies aims at birth defect prevention and control. However, there have been limited economic evaluations of non-invasive prenatal screening (NIPS) strategies in China. Furthermore, these studies were predominantly confined to local or geographically proximate provinces and lacked universality and representativeness. This study assesses the health economics of current prenatal screening strategies and NIPS as first-line screening programs, analyzing their efficacy to determine an optimal strategy. From the perspective of health economics, cost-effectiveness, cost-benefit, and single-factor sensitivity were conducted for five different screening strategies using a decision tree model. Among pregnant women aged < 35 years who underwent only one screening for foetal Down syndrome (DS), the detection rate, false positive rate and positive predictive value of NIPS for foetuses with DS were superior to those of the other four serological screening methods. Although applying NIPS as first-line screening method yields the highest efficacy and benefits, it currently lacks cost-effectiveness when compared to serological screening and sequential NIPS screening strategies.

Prevalence, characteristics and risk factors of birth defects in central China livebirths, 2015-2022.

This study analyzed the prevalence, epidemiological characteristics and risk factors of birth defects among livebirths in central China, aiming to provide evidences for the prevention of birth defects and government Decision-makings. Birth data from China's Hubei Province between 2015 and 2022 were collected, including basic information of the livebirths, the mothers and the fathers, as well as information about delivery and each prenatal examination. The livebirths prevalence of birth defects was calculated and the trends were mapped. The basic characteristics of birth defects were evaluated by the difference analysis between case and health groups. Univariate and multivariate Poisson regression was performed to examine the independent risk factors for birth defects. Among 43,568 livebirths, 166 livebirths were born with birth defects, resulted in a total prevalence rate of 3.81 per 1,000 livebirths, showing a remarkable uptrend from 0.41per 1,000 livebirths in 2015 to 9.23 per 1,000 livebirths in 2022. The peak of the prevalence was in January and February. Congenital malformation of the musculoskeletal system was the main type of birth defect in central China livebirths, followed by cleft lip and cleft palate. Overall, newborns with birth defect had significantly earlier delivery gestational age, poorer health and higher proportion of infants with low birth weight than healthy births. The gender of livebirths, excess weight at delivery (≥80 kg) of mothers, more than 2 times of gravidity or parity of mothers, and advanced paternal age (≥40 years) were independent risk factors for birth defects (or specific birth defects). The livebirths prevalence of birth defects shows increasing trend in central China, which deserves the attention of the government and would-be parents. Elevated paternal age, excess maternal weight, gravidity and parity should be considered when planning their families.

Supplementation with Folic Acid or 5-Methyltetrahydrofolate and Prevention of Neural Tube Defects: An Evidence-Based Narrative Review.

Background: Folic acid (FA), which in its chemical form is pteroylglutamic acid, is the fully oxidised, water-soluble, monoglutamic form of vitamin B9. This compound is part of the folate group but with higher bioavailability, and it is found in vitamin supplements and fortified foods and drugs. Folate metabolism is complex and associated with various metabolic pathways, all of which confer protection on the cell and allow its survival. Methods: We conducted a non-systematic search of articles published in English and Spanish including controlled trials, cohort studies, systematic re-views, and meta-analyses were included, as well as key studies in animal models related to pharmacokinetic studies. Search terms encompassed: "folic acid", "folates", "5-metyltetrahydrofolate", "5-MTHF", "neural tube defects", "supplementation", "fortification", AND "homocysteine" Results: A crucial role demonstrated for FA is to help prevent neural tube defects (NTDs). However, more studies are definitely still needed to establish 5-MTHF as a safe and effective therapeutic approach comparable with FA. Moreover, there is a lack of clinical studies that evaluate the efficacy of 5-MTHF supplementation in the prevention of NTDs. The present evidence-based narrative review discusses differences between FA and 5-MTHF in terms of structure, metabolism, bioavailability, clinical efficacy, and safety. Conclusions: Despite the potential value of 5-MTHF as an alternative to FA, clinical studies would be urgently needed to support the efficacy, dosage, timing, and/or safety of its use as a supplement.

Maternal Folic Acid and Dietary Folate Intake in Relation to Sex Ratio at Birth and Sex-Specific Birth Weight in China.

It is well-established that prenatal folic acid supplements can reduce neural tube defects. However, the associations between folic acid supplementation, dietary folate intake, and overall folate intake with sex-specific birth outcomes are not yet fully understood. This study aims to investigate the association of periconceptional folic acid supplement, dietary folate, and total folate intake with the sex ratio at birth and sex-specific birth weight. Data were sourced from a cross-sectional survey conducted between August and December 2013 in Northwest China, involving 7318 infants and their mothers, recruited using a stratified multistage random sampling method. Folic acid supplements (400 μg/d) were ascertained via a retrospective in-person interview. Dietary folate was evaluated using a validated food frequency questionnaire. Birth outcomes, including sex and weight at birth, were obtained from the Medical Certificate of Birth. Generalized linear models were employed to calculate relative risks (RRs) or differences with 95% confidence intervals (CIs). No association or dose-response relationship was observed between folic acid supplement, dietary folate, and total folate intake during periconception and the likelihood of male births. However, women who took folic acid supplements during pre- and post-conception were associated with an increased male birth weight by 52.8 (8.1 to 97.5) g. Additionally, the total folate intake during periconception was associated with birth weight for males (upper vs. lower tertile: β = 38.8, 95%CI: 5.0 to 72.5 g, p-trend = 0.024) and females (upper vs. lower tertile: β = 42.4, 95%CI: 6.7 to 78.1; p-trend = 0.022). Our findings indicate that periconceptional total folate intake does not correlate with sex ratio at birth but was positively linked to infant birth weights, regardless of gender. These findings offer novel insights into potential benefits of total folate intake, beyond the prevention of neural tube defects, for policymakers and public health.

Whole exome sequencing analysis of 167 men with primary infertility

BackgroundSpermatogenic failure is one of the leading causes of male infertility and its genetic etiology has not yet been fully understood.MethodsThe study screened a cohort of patients (n = 167) with primary male infertility in contrast to 210 normally fertile men using whole exome sequencing (WES). The expression analysis of the candidate genes based on public single cell sequencing data was performed using the R language Seurat package.ResultsNo pathogenic copy number variations (CNVs) related to male infertility were identified using the the GATK-gCNV tool. Accordingly, variants of 17 known causative (five X-linked and twelve autosomal) genes, including ACTRT1, ADAD2, AR, BCORL1, CFAP47, CFAP54, DNAH17, DNAH6, DNAH7, DNAH8, DNAH9, FSIP2, MSH4, SLC9C1, TDRD9, TTC21A, and WNK3, were identified in 23 patients. Variants of 12 candidate (seven X-linked and five autosomal) genes were identified, among which CHTF18, DDB1, DNAH12, FANCB, GALNT3, OPHN1, SCML2, UPF3A, and ZMYM3 had altered fertility and semen characteristics in previously described knockout mouse models, whereas MAGEC1,RBMXL3, and ZNF185 were recurrently detected in patients with male factor infertility. The human testis single cell-sequencing database reveals that CHTF18, DDB1 and MAGEC1 are preferentially expressed in spermatogonial stem cells. DNAH12 and GALNT3 are found primarily in spermatocytes and early spermatids. UPF3A is present at a high level throughout spermatogenesis except in elongating spermatids. The testicular expression profiles of these candidate genes underlie their potential roles in spermatogenesis and the pathogenesis of male infertility.ConclusionWES is an effective tool in the genetic diagnosis of primary male infertility. Our findings provide useful information on precise treatment, genetic counseling, and birth defect prevention for male factor infertility.