Birth Defects Research最新文献_第7页

Comments on “Maternal–fetal safety evaluation of an aqueous extract of Casearia sylvestris [AECS] leaves in rats” (Nagaoka et al., 2023 [DOI: 10.1002/bdr2.2257]) 关于 "Casearia sylvestris [AECS] 叶子水提取物对大鼠母胎安全性的评价"（Nagaoka 等人，2023 [DOI: 10.1002/bdr2.2257] ）的评论

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-03-23 DOI: 10.1002/bdr2.2326

L. David Wise, John M. DeSesso

引用次数: 0

Impact of perinatal exposure counseling on patient reported emotional outcomes and decisional empowerment 围产期暴露咨询对患者报告的情绪结果和决定权的影响

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-03-23 DOI: 10.1002/bdr2.2325

Réka Müller, Madison Lake, Nevena Krstić, Sarah G. Običan, Deborah Cragun

Background

Exposures during pregnancy are common and most pregnant patients utilize at least one medication during pregnancy. The lack of reliable information on medication safety during pregnancy available to providers and patients is a stressor and obstacle to decision-making about medication use in pregnancy. Previous studies showed that exposures in pregnancy are associated with guilt, worry, and decisional conflict. Although prior research has evaluated changes in patient knowledge after teratogen counseling, studies have not examined emotional outcomes or patients' decisional empowerment. This quasi-experimental study measured changes in patients' feelings of guilt, anxiety, and decisional empowerment after receiving exposure counseling from trained teratogen information specialists.

Methods

We administered pre- and post-counseling surveys to patients referred to a perinatal exposure clinic in Tampa, Florida. Validated scales were used to measure anxiety and guilt, and the ‘SURE’ measure was used to assess decisional empowerment. Paired samples t-tests evaluated changes in anxiety and guilt and a McNemar test assessed for changes in empowered decision making.

Results

Among the 34 participants who completed both surveys, anxiety, and guilt scores decreased significantly (p < .001). While only 21% felt informed and empowered to make a decision related to their exposure(s) before counseling, this increased to 85% (p < .001) on the post-survey.

Conclusion

Comprehensive counseling with a trained teratogen information specialist improves patient emotional outcomes as well as feelings of empowerment to make an informed decision regarding medication use in pregnancy. This study highlights that patient-centered teratogen counseling goes beyond simple changes in patient knowledge.

背景怀孕期间接触药物很常见，大多数孕妇在怀孕期间至少会使用一种药物。医疗服务提供者和患者缺乏有关孕期用药安全的可靠信息，这对孕期用药决策造成了压力和障碍。先前的研究表明，孕期暴露与内疚、担忧和决策冲突有关。虽然之前的研究已经评估了患者在接受畸形儿咨询后对相关知识的了解程度，但还没有研究对情感结果或患者的决策能力进行考察。这项准实验研究测量了患者在接受训练有素的畸形儿信息专家提供的暴露咨询后，内疚感、焦虑感和决策能力的变化。方法我们对转诊到佛罗里达州坦帕市一家围产期暴露诊所的患者进行了咨询前和咨询后调查。我们使用经过验证的量表来测量焦虑和内疚感，并使用 "SURE "量表来评估决策能力。配对样本 t 检验评估了焦虑和内疚感的变化，McNemar 检验评估了决策能力的变化。结果在完成这两项调查的 34 名参与者中，焦虑和内疚的得分都有显著下降（p < .001）。在接受咨询前，只有 21% 的人认为自己掌握了相关信息并有能力做出与所接触的疾病有关的决定，而在接受咨询后的调查中，这一比例上升到了 85% (p <.001)。结论由训练有素的畸形源信息专家提供全面的咨询，可改善患者的情绪结果，并增强其就孕期用药做出知情决定的能力。这项研究强调，以患者为中心的畸变咨询不仅仅是简单地改变患者的知识。

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引用次数: 0

Carbon monoxide affects early cardiac development in an avian model 一氧化碳影响鸟类模型的早期心脏发育

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-03-15 DOI: 10.1002/bdr2.2330

Filipa Rombo Matias, Ian Groves, Joshua Durrans, Mari Herigstad

Introduction

Carbon monoxide (CO) is a toxic gas that can be lethal in large doses and may also cause physiological damage in lower doses. Epidemiological studies suggest that CO in lower doses over time may impact on embryo development, in particular cardiac development, however other studies have not observed this association.

Methods

Here, we exposed chick embryos in ovo to CO at three different concentrations (3, 9, 18 ppm) plus air control (4 protocols in total) for the first 9 days of development, at which point we assessed egg and embryo weight, ankle length, developmental stage, heart weight, ventricular wall thickness, ventricular-septal thickness and atrial wall thickness.

Results

We found that heart weight was reduced for the low and moderate exposures compared to air, that atrial wall and ventricular wall thickness was increased for the moderate and high exposures compared to air and that ventricular septal thickness was increased for low, moderate and high exposures compared to air. Ventricular wall thickness was also significantly positively correlated with absolute CO exposures across all protocols.

Conclusions

This intervention study thus suggests that CO even at very low levels may have a significant impact on cardiac development.

导言：一氧化碳（CO）是一种有毒气体，大剂量时可致死，小剂量时也可能造成生理损害。流行病学研究表明，较低剂量的一氧化碳可能会影响胚胎发育，尤其是心脏发育，但其他研究并未观察到这种关联。方法：在此，我们将小鸡胚胎暴露于三种不同浓度（3、9、18 ppm）的一氧化碳以及空气对照（共 4 个方案）中，持续 9 天，评估卵和胚胎重量、脚踝长度、发育阶段、心脏重量、心室壁厚度、心室-室间隔厚度和心房壁厚度：结果：我们发现，与空气相比，低度和中度暴露的心脏重量减少；与空气相比，中度和高度暴露的心房壁和心室壁厚度增加；与空气相比，低度、中度和高度暴露的室间隔厚度增加。在所有方案中，心室壁厚度与一氧化碳绝对暴露量也呈显著正相关：因此，这项干预研究表明，即使是极低浓度的一氧化碳也会对心脏发育产生重大影响。

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引用次数: 0

Population-based surveillance for birth defects potentially related to Zika virus infection including 3-year mortality and developmental outcomes, and Early Intervention Program service use—New York City, 2016 birth cohort 对可能与寨卡病毒感染有关的出生缺陷进行基于人群的监测，包括 3 年死亡率和发育结果，以及早期干预计划服务的使用情况--纽约市，2016 年出生队列。

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-03-13 DOI: 10.1002/bdr2.2320

Katharine H. McVeigh, Tenzin Tseyang, Mary-Elizabeth Vachon, Aurora Moraes

Background

In response to the 2015–2017 Zika virus outbreak, New York City (NYC) identified and monitored infants with birth defects potentially related to congenital Zika virus.

Methods

Administrative data matches were used to describe the birth characteristics of children born in 2016 meeting screening criteria for birth defects potentially related to congenital Zika virus infection relative to other NYC births and to monitor mortality and Early Intervention Program use through age 2.

Results

Among 120,367 children born in NYC in 2016, 463 met screening criteria and 155 met the Centers for Disease Control and Prevention's case definition for birth defects potentially related to congenital Zika virus infection (1.3 per 1000; 95% confidence interval [CI], 1.1–1.5). Post-neonatal deaths occurred among 7.7% of cases (12) and 5.2% of non-cases (8). Odds of referral to the Early intervention Program among children who met screening criteria were lower among children of mothers who were married (OR, 0.60; 95% CI, 0.37–0.97) and among children not classified as cases whose mothers were born in Latin America and the Caribbean (OR, 0.59; 95% CI, 0.37–1.09).

Discussion

Prevalence of birth defects potentially related to congenital Zika virus infection was similar to that seen in other jurisdictions without local transmission. Birth defects attributable to congenital Zika virus infection may also have been present among screened children who did not meet the case definition.

背景：为应对 2015-2017 年的寨卡病毒疫情，纽约市对可能与先天性寨卡病毒有关的出生缺陷婴儿进行了鉴定和监测：为应对 2015-2017 年的寨卡病毒疫情，纽约市（NYC）发现并监测了出生缺陷可能与先天性寨卡病毒有关的婴儿：方法：利用行政数据匹配来描述 2016 年出生的符合先天性寨卡病毒感染相关出生缺陷筛查标准的儿童与纽约市其他新生儿的出生特征，并监测死亡率和 2 岁前早期干预计划的使用情况：2016年在纽约市出生的120 367名儿童中，有463名符合筛查标准，155名符合美国疾病控制和预防中心对可能与先天性寨卡病毒感染有关的出生缺陷的病例定义（1.3‰；95%置信区间[CI]，1.1-1.5）。产后死亡病例占病例总数的 7.7%（12 例），占非病例总数的 5.2%（8 例）。在符合筛查标准的儿童中，母亲为已婚人士的儿童被转介到早期干预计划的几率较低（OR，0.60；95% CI，0.37-0.97），而母亲出生在拉丁美洲和加勒比海地区的未被归类为病例的儿童被转介到早期干预计划的几率较低（OR，0.59；95% CI，0.37-1.09）：讨论：可能与先天性寨卡病毒感染有关的出生缺陷发生率与其他未发生本地传播的地区相似。先天性寨卡病毒感染导致的出生缺陷也可能出现在不符合病例定义的筛查儿童中。

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引用次数: 0

Expanding the Massachusetts Birth Defects Monitoring Program to include additional pregnancy outcomes: Programmatic efforts and impacts on case ascertainment, 2012–2020 扩大马萨诸塞州出生缺陷监测计划，纳入更多妊娠结果：2012-2020 年计划工作及对病例确定的影响。

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-03-13 DOI: 10.1002/bdr2.2323

Amy Fothergill, Rebecca F. Liberman, Eirini Nestoridi, Cara T. Mai, Lorraine F. Yeung, Cathleen Higgins, Mahsa M. Yazdy

Background

Birth defects affect 1 in 33 infants in the United States and are a leading cause of infant mortality. Birth defects surveillance is crucial for informing public health action. The Massachusetts Birth Defects Monitoring Program (MBDMP) began collecting other pregnancy losses (OPLs) in 2011, including miscarriages (<20 weeks gestation) or elective terminations (any gestational age), in addition to live births and stillbirths (≥20 weeks gestation). We describe programmatic changes for adding OPLs and their impact on prevalence estimates.

Methods

Using population-based, statewide, data from the MBDMP (2012–2020), we assessed prevalence per 10,000 live births and 95% confidence intervals (CIs) with and without OPLs overall and for specific birth defects by time period, maternal age, and race/ethnicity.

Results

Including OPLs required amending a state statute and promulgating regulations, new data sources, and additional data processing, cleaning, and verification. Overall prevalence with OPLs increased from 257.4 (95% CI: 253.5–261.4) to 333.9 (95% CI: 329.4–338.4) per 10,000; increases were observed in all time periods, age, and race/ethnicity groups. After including OPLs, the prevalence increased for neural tube defects [3.2 (2.7–3.6) to 8.3 (7.6–9.0)], and trisomies 13 [0.5 (0.3–0.7) to 4.1 (3.6–4.6)], 18 [1.5 (1.2–1.9) to 8.2 (7.5–8.9)], and 21 [12.3 (11.4–13.2) to 28.9 (27.6–30.2)]. Cardiovascular defects increased slightly, while prevalence of eye/ear, respiratory, and gastrointestinal defects remained similar.

Conclusions

Adding OPLs required substantial programmatic efforts and resulted in more complete case ascertainment, particularly for certain birth defects. More complete case ascertainment will allow for improved research, screening, and resource allocation.

背景：在美国，每 33 个婴儿中就有 1 个患有出生缺陷，这是婴儿死亡的主要原因之一。出生缺陷监测对于为公共卫生行动提供信息至关重要。马萨诸塞州出生缺陷监测计划（MBDMP）于 2011 年开始收集其他妊娠损失（OPL），包括流产（方法：通过马萨诸塞州出生缺陷监测计划（MBDMP）中的数据，对流产进行监测：利用马萨诸塞州出生缺陷监测计划（MBDMP）（2012-2020 年）中基于人口的全州数据，我们评估了每 10,000 例活产的患病率和 95% 的置信区间（CIs），包括有无 OPLs 的总体患病率，以及按时间段、孕产妇年龄和种族/民族划分的特定出生缺陷的患病率：将 OPL 纳入其中需要修改州法规和颁布条例、新的数据来源以及额外的数据处理、清理和验证。有 OPLs 的总体患病率从每 10,000 人中 257.4 例（95% CI：253.5-261.4 例）上升到 333.9 例（95% CI：329.4-338.4 例）；在所有时间段、年龄和种族/民族组中都观察到了患病率的上升。在包括 OPL 后，神经管畸形[3.2（2.7-3.6）升至 8.3（7.6-9.0）]、13[0.5（0.3-0.7）升至 4.1（3.6-4.6）]、18[1.5（1.2-1.9）升至 8.2（7.5-8.9）]和 21[12.3（11.4-13.2）升至 28.9（27.6-30.2）]的患病率均有所上升。心血管缺陷略有增加，而眼/耳、呼吸道和胃肠道缺陷的发病率保持相似：增加 OPLs 需要大量的计划工作，但却能更全面地确定病例，尤其是某些出生缺陷。更全面的病例确定将有助于改进研究、筛查和资源分配。

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引用次数: 0

Construction and analysis of a joint diagnostic model of machine learning for cryptorchidism based on single-cell sequencing 基于单细胞测序的隐睾症机器学习联合诊断模型的构建与分析

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-03-08 DOI: 10.1002/bdr2.2316

Yuehua Chen, Xiaomeng Zhou, Linghua Ji, Jun Zhao, Hua Xian, Yunzhao Xu, Ziheng Wang, Wenliang Ge

Background

Cryptorchidism is a condition in which one or both of a baby's testicles do not fully descend into the bottom of the scrotum. Newborns with cryptorchidism are at increased risk of developing infertility later in life. The aim of this study was to develop a novel diagnostic model for cryptorchidism and to identify new biomarkers associated with cryptorchidism.

Methods

The study data were obtained from RNA sequencing data of cryptorchid patients from Nantong University Hospital and the Gene Expression Omnibus (GEO) database. Differential expression analysis was used to obtain differentially expressed genes (DEGs) between the control and cryptorchid groups. These DEGs were analyzed for their functions by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment using GSEA software. Random Forest algorithm was used to screen central genes based on these DEGs. Neuralnet software package was used to develop artificial neural network models. Based on clinical data, receiver operating characteristic (ROC) was used to validate the models. Single-cell sequencing analysis was used for the pathogenesis of cryptorchidism.

Results

We obtained a total of 525 important DEGs related to cryptorchidism, which are mainly associated with biological functions such as supramolecular complexes and microtubule cytoskeleton. Random forest approach screening obtained eight hub genes. A neural network based on the hub genes showed a 100% success rate of the model. Finally, single-cell sequencing analysis validated the hub genes.

Conclusion

We developed a novel diagnostic model for cryptorchidism using artificial neural networks and validated its utility as an effective diagnostic tool.

背景介绍隐睾症是指婴儿的一个或两个睾丸没有完全下降到阴囊底部。患有隐睾症的新生儿日后患不育症的风险会增加。这项研究的目的是开发一种新型的隐睾症诊断模型，并确定与隐睾症相关的新生物标志物：研究数据来自南通大学附属医院隐睾患者的 RNA 测序数据和基因表达总库（GEO）数据库。差异表达分析用于获得对照组和隐睾组之间的差异表达基因（DEGs）。利用GSEA软件，通过基因本体（GO）和京都基因组百科全书（KEGG）富集分析这些DEGs的功能。使用随机森林算法根据这些 DEGs 筛选中心基因。使用 Neuralnet 软件包开发人工神经网络模型。根据临床数据，使用接收器操作特征（ROC）来验证模型。单细胞测序分析用于研究隐睾症的发病机制：结果：我们共获得了525个与隐睾症相关的重要DEGs，它们主要与超分子复合物和微管细胞骨架等生物功能有关。随机森林法筛选获得了 8 个枢纽基因。基于枢纽基因的神经网络显示该模型的成功率为100%。最后，单细胞测序分析验证了枢纽基因：我们利用人工神经网络开发了一种新型的隐睾症诊断模型，并验证了其作为有效诊断工具的实用性。

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引用次数: 0

Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects 人类手足分裂变体在挽救颅面缺陷方面的功能不如野生型人类 PRDM1。

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-03-08 DOI: 10.1002/bdr2.2327

Brittany T. Truong, Lomeli C. Shull, Bryan J. Zepeda, Ezra Lencer, Kristin B. Artinger

Background

Split hand/foot malformation (SHFM) is a congenital limb disorder presenting with limb anomalies, such as missing, hypoplastic, or fused digits, and often craniofacial defects, including a cleft lip/palate, microdontia, micrognathia, or maxillary hypoplasia. We previously identified three novel variants in the transcription factor, PRDM1, that are associated with SHFM phenotypes. One individual also presented with a high arch palate. Studies in vertebrates indicate that PRDM1 is important for development of the skull; however, prior to our study, human variants in PRDM1 had not been associated with craniofacial anomalies.

Methods

Using transient mRNA overexpression assays in prdm1a^−/− mutant zebrafish, we tested whether the PRDM1 SHFM variants were functional and could lead to a rescue of the craniofacial defects observed in prdm1a^−/− mutants. We also mined previously published CUT&RUN and RNA-seq datasets that sorted EGFP-positive cells from a Tg(Mmu:Prx1-EGFP) transgenic line that labels the pectoral fin, pharyngeal arches, and dorsal part of the head to examine Prdm1a binding and the effect of Prdm1a loss on craniofacial genes.

Results

The prdm1a^−/− mutants exhibit craniofacial defects including a hypoplastic neurocranium, a loss of posterior ceratobranchial arches, a shorter palatoquadrate, and an inverted ceratohyal. Injection of wildtype (WT) hPRDM1 in prdm1a^−/− mutants partially rescues the palatoquadrate phenotype. However, injection of each of the three SHFM variants fails to rescue this skeletal defect. Loss of prdm1a leads to a decreased expression of important craniofacial genes by RNA-seq, including emilin3a, confirmed by hybridization chain reaction expression. Other genes including dlx5a/dlx6a, hand2, sox9b, col2a1a, and hoxb genes are also reduced. Validation by real-time quantitative PCR in the anterior half of zebrafish embryos failed to confirm the expression changes suggesting that the differences are enriched in prx1 expressing cells.

Conclusion

These data suggest that the three SHFM variants are likely not functional and may be associated with the craniofacial defects observed in the humans. Finally, they demonstrate how Prdm1a can directly bind and regulate genes involv

背景：手足分裂畸形（SHFM）是一种先天性肢体疾病，表现为肢体异常，如缺失、发育不良或融合的手指，而且通常伴有颅面缺陷，包括唇裂/腭裂、小齿畸形、小颌畸形或上颌骨发育不良。我们之前发现了与 SHFM 表型相关的转录因子 PRDM1 的三个新型变体。其中一人还伴有高腭弓。对脊椎动物的研究表明，PRDM1 对头骨的发育非常重要；然而，在我们的研究之前，人类的 PRDM1 变异与颅面畸形并无关联：方法：通过在prdm1a-/-突变斑马鱼中进行瞬时 mRNA 过表达试验，我们检测了 PRDM1 SHFM 变体是否具有功能性，是否能挽救在prdm1a-/-突变体中观察到的颅面缺陷。我们还挖掘了之前发表的CUT&RUN和RNA-seq数据集，这些数据集从标记胸鳍、咽弓和头背的Tg(Mmu:Prx1-EGFP)转基因品系中分选了EGFP阳性细胞，以研究Prdm1a的结合以及Prdm1a缺失对颅面部基因的影响：结果：prdm1a-/-突变体表现出颅面缺陷，包括神经颅骨发育不良、后颅弓缺失、腭胛骨较短和颅骨倒置。在prdm1a-/-突变体中注射野生型（WT）hPRDM1可部分挽救腭咽表现型。然而，注射三种SHFM变体中的每一种都不能挽救这种骨骼缺陷。通过RNA-seq分析，prdm1a的缺失导致重要的颅面基因（包括emilin3a）表达减少，杂交链反应表达证实了这一点。其他基因，包括 dlx5a/dlx6a、hand2、sox9b、col2a1a 和 hoxb 基因的表达也有所减少。在斑马鱼胚胎前半部分进行的实时定量 PCR 验证未能证实这些表达变化，这表明这些差异主要集中在表达 prx1 的细胞中：这些数据表明，这三种 SHFM 变体可能不具有功能性，而且可能与在人类身上观察到的颅面缺陷有关。最后，它们证明了 Prdm1a 如何直接结合并调控参与颅面发育的基因。

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引用次数: 0

Update on the impact of voluntary folic acid fortification of corn masa flour on red blood cell folate concentrations—National Health and Nutrition Examination Survey, 2011–March 2020 2011 年至 2020 年 3 月全国健康与营养调查：玉米面中自愿添加叶酸对红血球叶酸浓度影响的最新情况。

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-03-08 DOI: 10.1002/bdr2.2321

Arick Wang, Amy Fothergill, Lorraine F. Yeung, Krista S. Crider, Jennifer L. Williams

Background

Folic acid is a micronutrient that is effective at preventing neural tube defects (NTDs). In 2016, the FDA authorized the voluntary fortification of corn masa flour (CMF) with folic acid to reduce disparities in NTDs among infants of women who do not regularly consume other fortified cereal grains, in particular Hispanic women of reproductive age (WRA).

Methods

We analyzed data from the National Health and Nutrition Examination Survey (NHANES) from 2011 to March 2020 assessing the impact of voluntary fortification of CMF on the folate status of Hispanic WRA. We analyzed folic acid usual intake and red blood cell (RBC) folate concentrations among non-pregnant, non-lactating Hispanic WRA, comparing pre-fortification (2011–2016) to post-fortification (2017–March 2020) data. RBC folate concentrations were used to create model-based estimation of NTD rates.

Results

The proportion of Hispanic WRA with folic acid usual intakes <400 μg/d did not change (2011–2016: 86.1% [95% Confidence Interval, CI: 83.7–88.5]; 2017–March 2020: 87.8% [95% CI: 84.8–90.7]; p = .38) nor did the proportion of Hispanic WRA with RBC folate below optimal concentrations (<748 nmol/L, 2011–2016: 16.0% [95% CI: 13.7–18.2]; 2017–March 2020: 18.1% [95% CI: 12.1–24.0]; p = 0.49). Model-based estimates of NTD rates suggest further improvements in the folate status of Hispanic WRA might prevent an additional 157 (95% Uncertainty Interval: 0, 288) NTDs/year.

Conclusions

Voluntary fortification of CMF with folic acid has yet to have a significant impact on the folate status of WRA. Continued monitoring and further research into factors such as fortified product availability, community knowledge, and awareness of folic acid benefits would inform and improve future public health interventions.

背景：叶酸是一种能有效预防神经管畸形（NTD）的微量营养素。2016 年，美国食品和药物管理局（FDA）授权对玉米麻酱粉（CMF）进行叶酸自愿强化，以减少不经常食用其他强化谷物的妇女，尤其是西班牙裔育龄妇女（WRA）的婴儿患 NTD 的差异：我们分析了 2011 年至 2020 年 3 月的美国国家健康与营养调查（NHANES）数据，评估了自愿强化 CMF 对西班牙裔育龄妇女叶酸状况的影响。我们比较了强化前（2011-2016 年）和强化后（2017 年至 2020 年 3 月）的数据，分析了非怀孕、非哺乳期西班牙裔 WRA 的叶酸常规摄入量和红血球（RBC）叶酸浓度。红细胞叶酸浓度被用于建立基于模型的NTD发病率估算：结果：叶酸通常摄入量占西语裔 WRA 的比例得出结论：自愿在 CMF 中添加叶酸尚未对 WRA 的叶酸状况产生重大影响。继续监测和进一步研究强化产品的可用性、社区知识和对叶酸益处的认识等因素，将为未来的公共卫生干预措施提供信息并加以改进。

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引用次数: 0

A search for factors associated with reduced carbohydrate intake and NTD risk in two population-based studies 在两项基于人口的研究中寻找与碳水化合物摄入量减少和 NTD 风险相关的因素。

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-03-07 DOI: 10.1002/bdr2.2328

Gary M. Shaw, Wei Yang, Kari A. Weber, Andrew F. Olshan, Tania A. Desrosiers, The National Birth Defects Prevention Study

Background

Two population-based case–control studies have reported an increased risk of neural tube defect (NTD)-affected pregnancies among women with low carbohydrate diet in the periconceptional period. Given that only two studies have investigated this association, it is unclear to what degree the findings could be impacted by residual confounding. Here, we further interrogated both studies that observed this association with the objective to identify factors from a much larger number of factors that might explain the association.

Methods

By employing a machine learning algorithm (random forest), we investigated a baseline set of over 200 variables. These analyses produced the top 10 variables in each data set for cases and controls that predicted periconceptional low carbohydrate intake.

Results

Examining those prediction variables with logistic regression modeling, we did not observe any particular variable that substantially contributed to the NTD-low carbohydrate association in either data set.

Conclusions

If there are underlying factors that explain the association, our findings suggest that none of the 200+ variables we examined were sufficiently correlated with what that true explanatory exposure may be. Alternatively, our findings may suggest that there are other unidentified factor(s) at play, or the association observed in two independent data sets is directly related to low carbohydrate intake.

背景：两项基于人群的病例对照研究报告称，围孕期低碳水化合物饮食的妇女受神经管缺陷（NTD）影响的妊娠风险增加。鉴于只有两项研究调查了这一关联，目前还不清楚研究结果在多大程度上会受到残余混杂因素的影响。在此，我们进一步询问了观察到这种关联的两项研究，目的是从更多的因素中找出可能解释这种关联的因素：通过使用机器学习算法（随机森林），我们调查了200多个变量的基线集。这些分析产生了每个数据集中预测围孕期低碳水化合物摄入量的病例和对照组的前 10 个变量：结果：通过逻辑回归模型对这些预测变量进行研究，我们没有发现任何一个特定的变量对两组数据中NTD与低碳水化合物的关联有实质性的影响：结论：如果有潜在的因素可以解释这种关联，我们的研究结果表明，我们研究的 200 多个变量中没有一个与真正的解释性暴露充分相关。另外，我们的研究结果还可能表明，还有其他未确定的因素在起作用，或者在两组独立数据中观察到的关联与低碳水化合物摄入量直接相关。

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引用次数: 0

Limb–body wall complex: Literature review and case report 肢体壁复合体：文献综述和病例报告。

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-03-05 DOI: 10.1002/bdr2.2322

Omar Daniel Cortés-Enríquez, Claudia Vanessa Tapia-Fonseca, María Angelina Torres-Fuentes, Paola Berenice Torres-Riojas, Laura Patricia Raya-Garza

Introduction

Body wall anomalies comprise a wide range of malformations. Limb–Body wall complex (LBWC) represents the most severe presentation of this group, with life threatening malformations in practically all the cases, including craniofacial, body wall defects, and limb anomalies. There is no consensus about its etiology and folding and gastrulation defects have been involved. Also, impaired angiogenesis has been proposed as a causative process.

Case Report

We present the case of a masculine stillborn, product of the first pregnancy in a 15-year-old, apparently healthy mother. He was delivered at 31 weeks of gestation due to an early rupture of membranes. He presented with multiple malformations including a wide body wall defect with multiple organ herniation and meromelia of the lower right limb.

Discussion and Conclusions

LBWC represents a severe and invariably fatal pathology. There are no described risk factors, nevertheless, this case presented in a teenage mother, a well-described risk factor for other body wall anomalies. Its diagnosis allows us to discriminate between other pathologies that require prenatal or postnatal specialized treatment.

导言：体壁畸形包括多种畸形。肢体-体壁复合畸形（Limb-Body Wall complex，LBWC）是这类畸形中最严重的一种，几乎所有病例都存在危及生命的畸形，包括颅面部、体壁缺损和肢体畸形。目前对其病因尚未达成共识，折叠和胚胎发育缺陷也与之有关。此外，血管生成障碍也被认为是一个致病过程：病例报告：我们接诊了一例男性死胎，是一位 15 岁、表面上健康的母亲第一次怀孕的产物。他在妊娠 31 周时因胎膜早破而娩出。他有多处畸形，包括体壁宽大缺损、多脏器疝出和右下肢梅花状畸形：讨论和结论：脐带绕颈症是一种严重的病理现象，而且总是致命的。然而，本病例的母亲是一名少女，这也是导致其他体壁畸形的危险因素。对该病例的诊断有助于我们区分其他需要产前或产后专门治疗的病症。

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引用次数: 0

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