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Abstract Supplement 摘要补编
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-04-29 DOI: 10.1002/bdr2.2344
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引用次数: 0
Exercise FITT-V during pregnancy: Association with birth outcomes 孕期 FITT-V 运动:与分娩结果的关系
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-04-24 DOI: 10.1002/bdr2.2340
Alex Claiborne, Breanna Wisseman, Kara Kern, Dylan Steen, Filip Jevtovic, Samantha McDonald, Cody Strom, Edward Newton, Christy Isler, James Devente, Steven Mouro, David Collier, Devon Kuehn, George A. Kelley, Linda E. May

Background

Prenatal exercise improves birth outcomes, but research into exercise dose–response effects is limited.

Methods

This study is a retrospective, secondary analysis of pooled data from three blinded, prospective, randomized controlled trials. Prenatal exercise frequency, intensity, type, time, and volume (FITT-V) were assessed in supervised sessions throughout pregnancy. Gestational age (GA), neonatal resting heart rate (rHR), morphometrics (body circumferences, weight-to-length and ponderal index) Apgar and reflex scores, and placental measures were obtained at birth. Stepwise regressions and Pearson correlations determined associations between FITT-V and birth outcomes.

Results

Prenatal exercise frequency reduces ponderal index (R2 = 0.15, F = 2.76, p = .05) and increased total number of reflexes present at birth (R2 = 0.24, F = 7.89, p < .001), while exercise intensity was related to greater gestational age and birth length (R2 = 0.08, F = 3.14; R2 = 0.12, F = 3.86, respectively; both p = .04); exercise weekly volume was associated with shorter hospital stay (R2 = 0.24, F = 4.73, p = .01). Furthermore, exercise type was associated with placenta size (R2 = 0.47, F = 3.51, p = .01).

Conclusions

Prenatal exercise is positively related to birth and placental outcomes in a dose-dependent manner.

背景 产前运动可改善分娩结局,但有关运动剂量反应效应的研究却很有限。 方法 本研究是对三项盲法前瞻性随机对照试验汇总数据的回顾性二次分析。产前运动频率、强度、类型、时间和运动量(FITT-V)在整个孕期的监督课程中进行评估。新生儿出生时的妊娠年龄(GA)、新生儿静息心率(rHR)、形态测量(体围、体重身长比和腹围指数)、Apgar评分和反射评分以及胎盘测量结果均已获得。逐步回归和皮尔逊相关性确定了 FITT-V 与分娩结果之间的关系。 结果 产前运动频率降低了深静脉指数(R2 = 0.15,F = 2.76,p = .05),增加了出生时出现的反射总数(R2 = 0.24,F = 7.89,p < .001),而运动强度与胎龄和出生时长有关(分别为 R2 = 0.08,F = 3.14;R2 = 0.12,F = 3.86;均 p = .04);每周运动量与住院时间缩短有关(R2 = 0.24,F = 4.73,p = .01)。此外,运动类型与胎盘大小相关(R2 = 0.47,F = 3.51,p = .01)。 结论 产前锻炼以剂量依赖的方式与分娩和胎盘结局呈正相关。
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引用次数: 0
Correction to “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])” 更正 "关于 "对大鼠服用茜草叶水提取物[AECS]的母胎安全性评价 "的评论(Nagaoka 等人,2023 [DOI: 10.1002/bdr2.2257] )"
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-04-22 DOI: 10.1002/bdr2.2339

Wise, L.D. and DeSesso, J.M. (2024), Comments on “Maternal–fetal safety evaluation of an aqueous extract of Casearia sylvestris [AECS] leaves in rats” (Nagaoka et al., 2023 [DOI: 10.1002bdr2.2257]). Birth Defects Research, 116: e2326. https://doi.org/10.1002/bdr2.2326

In the originally published article, the authors would like to update the following sentence in section 3c: Increases were quite small and the slight decreases in female fetal weights may have been a contributing factor (e.g., 2.1% decrease in absolute male AGD, Clark et al., 1990); however, as in that case, the effect may not be biologically significant.

The updated sentence is:

Increases were quite small and the slight decreases in female fetal weights may have been a contributing factor. Slight changes in AGD can be statistically significant (e.g., 2.1% decrease in absolute male AGD, Clark et al., 1990); however, as in that case, the effect may not be biologically significant.

We apologize for this error.

Wise,L.D. 和 DeSesso,J.M. (2024),关于 "Casearia sylvestris [AECS]叶水提取物在大鼠体内的母胎安全性评估"(Nagaoka 等人,2023 [DOI: 10.1002bdr2.2257])的评论。https://doi.org/10.1002/bdr2.2326 在最初发表的文章中,作者希望更新第 3c 节中的以下句子:增加的幅度相当小,女性胎儿体重的轻微下降可能是一个促成因素(例如,男性 AGD 绝对值下降 2.1%,Clark 等,1990 年);然而,在这种情况下,影响可能不具有生物学意义。AGD 的轻微变化可能具有统计学意义(例如,雄性 AGD 绝对值下降 2.1%,Clark 等人,1990 年);然而,在这种情况下,其影响可能不具有生物学意义。
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引用次数: 0
Post-mortem rapid aneuploidy testing for holoprosencephaly 死后全脑畸形快速非整倍体检测
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-04-17 DOI: 10.1002/bdr2.2342
Lajos Gergely, Vanda Repiská, Daniel Böhmer, Miroslav Korbeľ, Zuzana Václavová, Liam McCullough, Katarína Melišová, Petra Priščáková

Background

Abortion and fetal death are common in fetuses with holoprosencephaly, so genetic examinations often have to be made in a post-mortem setting. The efficiency of the conventional karyotyping using cultured fibroblasts in these situations is limited due to frequent culture failure. In the current study, archived cases of holoprosencephaly, where post-mortem genetic evaluation was requested and sufficient frozen material was available, were reevaluated using the quantitative fluorescence polymerase chain reaction (QF-PCR) technique.

Methods

Testing for aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y with the QF-PCR technique was carried out on DNA isolated from archived frozen chorionic villi in seven cases of holoprosencephaly.

Results

QF-PCR was successful in all seven cases. Two cases of trisomy 13, two cases of triploidy, and one case of trisomy 18 was found meaning a 71% diagnostic yield. The success rate of QF-PCR (100%, 7/7) was superior compared to conventional karyotyping (43%, 3/7).

Conclusions

Rapid aneuploidy testing using the QF-PCR technique is a simple, reliable, time- and cost-effective method sufficient to conclude the etiologic investigation in the majority of holoprosencephaly cases post-mortem.

背景 全脑畸形胎儿常见流产和胎儿死亡,因此往往需要在死后进行遗传学检查。在这种情况下,使用培养成纤维细胞进行传统核型分析的效率有限,因为培养经常失败。在本研究中,我们利用定量荧光聚合酶链反应(QF-PCR)技术,对要求进行死后基因评估且有足够冷冻材料的全脑畸形存档病例进行了重新评估。 方法 采用 QF-PCR 技术,对 7 例全绒毛膜促性腺激素畸形的存档冷冻绒毛中分离出的 DNA 进行 13、15、16、18、21、22、X 和 Y 染色体非整倍体检测。 结果 QF-PCR 在所有 7 个病例中都取得了成功。发现两例 13 三体综合征、两例三倍体综合征和一例 18 三体综合征,诊断率为 71%。QF-PCR 的成功率(100%,7/7)优于传统核型分析(43%,3/7)。 结论 使用 QF-PCR 技术进行快速非整倍体检测是一种简单、可靠、省时、经济的方法,足以对大多数死后全脑畸形病例进行病因学调查。
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引用次数: 0
The prenatal use of agmatine prevents social behavior deficits in VPA-exposed mice by activating the ERK/CREB/BDNF signaling pathway 产前服用鸦胆子碱可通过激活 ERK/CREB/BDNF 信号通路防止暴露于 VPA 的小鼠出现社交行为缺陷
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-04-16 DOI: 10.1002/bdr2.2336
Shihao Chen, Qi Xu, Linqian Zhao, Mulan Zhang, Huiqin Xu

Background

According to reports, prenatal exposure to valproic acid can induce autism spectrum disorder (ASD)-like symptoms in both humans and rodents. However, the exact cause and therapeutic method of ASD is not fully understood. Agmatine (AGM) is known for its neuroprotective effects, and this study aims to explore whether giving agmatine hydrochloride before birth can prevent autism-like behaviors in mouse offspring exposed prenatally to valproic acid.

Methods

In this study, we investigated the effects of AGM prenatally on valproate (VPA)-exposed mice. We established a mouse model of ASD by prenatally administering VPA. From birth to weaning, we evaluated mouse behavior using the marble burying test, open-field test, and three-chamber social interaction test on male offspring.

Results

The results showed prenatal use of AGM relieved anxiety and hyperactivity behaviors as well as ameliorated sociability of VPA-exposed mice in the marble burying test, open-field test, and three-chamber social interaction test, and this protective effect might be attributed to the activation of the ERK/CREB/BDNF signaling pathway.

Conclusion

Therefore, AGM can effectively reduce the likelihood of offspring developing autism to a certain extent when exposed to VPA during pregnancy, serving as a potential therapeutic drug.

背景 据报道,产前接触丙戊酸可诱发人类和啮齿动物出现类似自闭症谱系障碍(ASD)的症状。然而,自闭症谱系障碍的确切病因和治疗方法尚不完全清楚。本研究旨在探讨在小鼠出生前给予盐酸阿司马汀是否能预防产前暴露于丙戊酸的小鼠后代出现类似自闭症的行为。 方法 在本研究中,我们调查了产前服用 AGM 对暴露于丙戊酸(VPA)的小鼠的影响。我们通过产前注射 VPA 建立了 ASD 小鼠模型。从小鼠出生到断奶,我们使用大理石埋藏试验、开阔地试验和三室社会互动试验对雄性后代的行为进行了评估。 结果表明,产前使用 AGM 可缓解暴露于 VPA 的小鼠在大理石埋藏试验、开阔地试验和三室社交互动试验中的焦虑和多动行为,并改善其社交能力,这种保护作用可能是由于激活了 ERK/CREB/BDNF 信号通路。 结论 因此,AGM 能在一定程度上有效降低孕期暴露于 VPA 的小鼠后代患自闭症的可能性,可作为一种潜在的治疗药物。
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引用次数: 0
Biological and environmental factors influencing reproductive performance in ICR mice, Mus musculus 影响 ICR 小鼠繁殖性能的生物和环境因素
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-04-13 DOI: 10.1002/bdr2.2337
Toyohito Tanaka

Background

Since strain names and breeding facilities of ICR mice used in 37 reproductive toxicity studies have changed from 1990 to 2022 in our laboratory, biological and environmental factors that affect reproductive parameters were investigated in control mice to examine the validity of the background data.

Methods

Litter size and sex ratio were measured at birth [postnatal day (PND) 0], while offspring body weight was measured on PND 0 and 21 during the lactation. The relationships between biological and environmental factors and reproductive parameters were assessed with multiple regression analysis using stepwise regression as an explanatory variable selection strategy. The biological factors of litter size at birth, secondary sex ratio (male%), body weight (g) at birth and strain name, and environmental factors of facilities (room), temperature/humidity, and bedding materials were used as explanatory variables, and reproductive parameters of litter size at birth, secondary sex ratio (male%), body weight (g) at birth, and survival index (%) of offspring at PND 21 were used as response variables.

Results

No significant effects were indicated in litter size and sex ratio (male %) with any biological and environmental factors. Male and female offspring weights were significantly affected by strain names. No significant effects were indicated in the survival index (%) at PND 21 in both sexes with any biological and environmental factors.

Conclusions

Litter size and sex ratio in this report are sufficient as background data throughout the period because no significant variables of biological and environmental factors affected litter size and gender composition.

背景 由于本实验室用于 37 项生殖毒性研究的 ICR 小鼠的品系名称和饲养设施从 1990 年到 2022 年发生了变化,因此我们在对照小鼠中调查了影响生殖参数的生物和环境因素,以检验背景数据的有效性。 方法 在出生时[产后第 0 天(PND)]测量窝仔数和性别比,在产后第 0 天和哺乳期第 21 天测量后代体重。采用逐步回归作为解释变量选择策略,通过多元回归分析评估了生物和环境因素与繁殖参数之间的关系。将出生窝产仔数、次性别比(雄性率)、出生体重(克)和品系名称等生物因素,以及设施(房间)、温度/湿度和垫料等环境因素作为解释变量,将出生窝产仔数、次性别比(雄性率)、出生体重(克)和PND 21时后代存活指数(%)等繁殖参数作为响应变量。 结果 没有发现任何生物和环境因素对产仔数和性别比(雄性比例)有明显影响。雌雄后代体重受品系名称的影响很大。任何生物和环境因素都不会对 PND 21 时雌雄个体的存活率(%)产生明显影响。 结论 本报告中的窝产仔数和性别比例足以作为整个期间的背景数据,因为生物和环境因素对窝产仔数和性别组成没有明显影响。
{"title":"Biological and environmental factors influencing reproductive performance in ICR mice, Mus musculus","authors":"Toyohito Tanaka","doi":"10.1002/bdr2.2337","DOIUrl":"https://doi.org/10.1002/bdr2.2337","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Since strain names and breeding facilities of ICR mice used in 37 reproductive toxicity studies have changed from 1990 to 2022 in our laboratory, biological and environmental factors that affect reproductive parameters were investigated in control mice to examine the validity of the background data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Litter size and sex ratio were measured at birth [postnatal day (PND) 0], while offspring body weight was measured on PND 0 and 21 during the lactation. The relationships between biological and environmental factors and reproductive parameters were assessed with multiple regression analysis using stepwise regression as an explanatory variable selection strategy. The biological factors of litter size at birth, secondary sex ratio (male%), body weight (g) at birth and strain name, and environmental factors of facilities (room), temperature/humidity, and bedding materials were used as explanatory variables, and reproductive parameters of litter size at birth, secondary sex ratio (male%), body weight (g) at birth, and survival index (%) of offspring at PND 21 were used as response variables.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>No significant effects were indicated in litter size and sex ratio (male %) with any biological and environmental factors. Male and female offspring weights were significantly affected by strain names. No significant effects were indicated in the survival index (%) at PND 21 in both sexes with any biological and environmental factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Litter size and sex ratio in this report are sufficient as background data throughout the period because no significant variables of biological and environmental factors affected litter size and gender composition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140550062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The timing, duration, and severity of nausea and vomiting of pregnancy and adverse birth outcomes among controls without birth defects in the National Birth Defects Prevention Study 全国出生缺陷预防研究中无出生缺陷对照组的妊娠恶心和呕吐的时间、持续时间和严重程度以及不良出生结果
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-04-05 DOI: 10.1002/bdr2.2334
Nina L. Schrager, Samantha E. Parker, Martha M. Werler, for the National Birth Defects Prevention Study

Background

Nausea and vomiting of pregnancy (NVP) occurs in approximately 70% of pregnant people, with varying severity and duration. Treatments include pharmacologic and herbal/natural medications. The associations between NVP and birth outcomes, including preterm birth, small for gestational age (SGA), and low birth weight are inconclusive.

Objective

To determine whether NVP and reported medications are associated with adverse birth outcomes.

Methods

We used data from the population-based, multisite National Birth Defects Prevention Study (1997–2011) to evaluate whether self-reported NVP according to timing, duration, and severity or its specific treatments were associated with preterm birth, SGA, and low birth weight among controls without birth defects. Odds ratios (aOR) and 95% confidence intervals (CI) were adjusted for sociodemographic, reproductive, and medical factors. For any NVP, duration, treatment use, and severity score analyses, the comparison group was participants with no reported NVP. For timing analyses, the comparison group was women with no reported NVP in the same trimester of pregnancy.

Results

Among 6018 participants, 4339 (72.1%) reported any NVP. Among those with NVP, moderate or severe symptoms were more common than mild symptoms. Any versus no NVP was not associated with any of the outcomes of interest. NVP in months 4–6 (aOR 1.21, 95% CI: 1.00, 1.47) and 7–9 (aOR 1.57, 95% CI: 1.22, 2.01) of pregnancy were associated with an increase in the risk of preterm birth. NVP lasting one trimester in duration was associated with decrease in risk of SGA (aOR: 0.74, 95% CI: 0.58, 0.95), and NVP present in every trimester of pregnancy had a 50% increase in risk of preterm birth (aOR: 1.50, 95% CI: 1.11, 2.05). For NVP in months 7–9 and preterm birth, ORs were elevated for moderate (aOR: 1.82, 95% CI: 1.26, 2.63), and severe (aOR: 1.53, 95% CI: 1.06, 2.19) symptoms. NVP was not significantly associated with low birth weight. Our analyses of medications were limited by small numbers, but none suggested increased risk of adverse outcomes associated with use of the medication.

Conclusion

Mild NVP and NVP limited to early pregnancy appear to have no effect or a small protective effect on birth outcomes. Long-lasting NVP, severe NVP, and NVP later in pregnancy may increase risk of preterm birth and SGA.

背景约有 70% 的孕妇会出现妊娠恶心和呕吐(NVP),其严重程度和持续时间各不相同。治疗方法包括药物和草药/天然药物。NVP 与早产、胎龄小(SGA)和出生体重不足等出生结果之间的关系尚无定论。 目的 确定 NVP 和报告的药物是否与不良出生结局相关。 方法 我们利用基于人群的多地点全国出生缺陷预防研究(1997-2011 年)的数据,评估无出生缺陷对照组中,根据时间、持续时间和严重程度或其特定治疗方法自我报告的 NVP 是否与早产、SGA 和低出生体重相关。比值比 (aOR) 和 95% 置信区间 (CI) 已根据社会人口、生殖和医疗因素进行了调整。对于任何 NVP、持续时间、治疗使用和严重程度评分分析,对比组为未报告 NVP 的参与者。在时间分析中,对比组为在同一孕期未报告过 NVP 的妇女。 结果 在 6018 名参与者中,4339 人(72.1%)报告了任何 NVP。在有 NVP 的妇女中,中度或重度症状比轻度症状更常见。有无NVP与任何相关结果无关。妊娠 4-6 个月(aOR 1.21,95% CI:1.00,1.47)和 7-9 个月(aOR 1.57,95% CI:1.22,2.01)的 NVP 与早产风险的增加有关。持续三个月的 NVP 与 SGA 风险的降低有关(aOR:0.74,95% CI:0.58,0.95),而妊娠期每个三个月都有 NVP 会使早产风险增加 50%(aOR:1.50,95% CI:1.11,2.05)。对于第 7-9 个月的 NVP 和早产,中度症状(aOR:1.82,95% CI:1.26,2.63)和重度症状(aOR:1.53,95% CI:1.06,2.19)的 OR 值升高。NVP 与低出生体重无明显相关性。我们对药物的分析因数量较少而受到限制,但没有发现任何一种药物会增加不良后果的风险。 结论 轻度 NVP 和仅限于孕早期的 NVP 似乎对出生结果没有影响或有轻微的保护作用。长期 NVP、重度 NVP 和孕晚期 NVP 可能会增加早产和 SGA 的风险。
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引用次数: 0
Sex-dependent alterations of inflammatory factors, oxidative stress, and histopathology of the brain-gut axis in a VPA-induced autistic-like model of rats VPA诱导的大鼠自闭症样模型中炎症因子、氧化应激和脑肠轴组织病理学的改变与性别有关。
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-04-02 DOI: 10.1002/bdr2.2310
Zahra Salari, Amirhossein Moslemizadeh, Sara Sheibani Tezerji, Nazanin Sabet, Ali Saeidpour Parizi, Mohammad Khaksari, Vahid Sheibani, Elham Jafari, Sara Shafieipour, Hamideh Bashiri

Introduction

In this study, we aimed to investigate the inflammatory factors, oxidative stress, and histopathological consequences of the brain-gut axis in male and female rats prenatally exposed to VPA.

Methods

Pregnant Wistar rats were randomly divided into two groups. The animals received saline, and valproic acid (VPA) (600 mg/kg, i.p.) on embryonic day 12.5 (E12.5). All offspring were weaned on postnatal day 21, and the experiments were done in male and female rats on day 60. The brain and intestine tissues were extracted to assess histopathology, inflammation, and oxidative stress.

Results

An increase of interleukin-1β (IL-1β) and interleukin-6 (IL-6) and a decrease of interleukin-10 (IL-10) were observed in the two sexes and two tissues of the autistic rats. In the VPA-exposed animals, malondialdehyde (MDA) and protein carbonyl (PC) increased in the brain of both sexes and the intestines of only the males. The total antioxidant capacity (TAC), superoxide dismutase (SOD), and catalase (CAT) significantly decreased in both tissues of male and female autistic groups. Histopathological evaluation showed that the %apoptosis of the cortex in the autistic male and female groups was more than in controls whereas this parameter in the CA1 and CA3 was significant only in the male rats. In the intestine, histopathologic changes were seen only in the male autistic animals.

Conclusion

The inflammatory and antioxidant factors were in line in the brain-gut axis in male and female rats prenatally exposed to VPA. Histopathological consequences were more significant in the VPA-exposed male animals.

引言本研究旨在探讨产前暴露于 VPA 的雌雄大鼠脑-肠轴的炎症因子、氧化应激和组织病理学后果:方法:将怀孕的 Wistar 大鼠随机分为两组。方法:将妊娠 Wistar 大鼠随机分为两组,一组接受生理盐水,另一组在胚胎 12.5 天(E12.5)接受丙戊酸(VPA)(600 毫克/千克,静脉注射)。所有后代均于出生后第 21 天断奶,实验于第 60 天在雄性和雌性大鼠中进行。提取脑组织和肠组织以评估组织病理学、炎症和氧化应激:结果:在自闭症大鼠的两种性别和两种组织中观察到白细胞介素-1β(IL-1β)和白细胞介素-6(IL-6)增加,白细胞介素-10(IL-10)减少。在暴露于 VPA 的动物中,雌雄大鼠大脑中的丙二醛(MDA)和蛋白质羰基(PC)都有所增加,只有雄性大鼠肠道中的丙二醛和蛋白质羰基有所增加。雌雄自闭症组动物两种组织的总抗氧化能力(TAC)、超氧化物歧化酶(SOD)和过氧化氢酶(CAT)均明显下降。组织病理学评估显示,雌雄自闭症组大鼠大脑皮层的凋亡率高于对照组,而只有雄性大鼠的 CA1 和 CA3 的凋亡率明显高于对照组。在肠道中,只有雄性自闭症动物出现了组织病理学变化:结论:产前暴露于 VPA 的雄性和雌性大鼠的脑-肠轴中的炎症和抗氧化因子是一致的。组织病理学后果在暴露于 VPA 的雄性动物中更为显著。
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引用次数: 0
Folate and vitamin B12 status and predicted neural tube defects risk among nonpregnant women of reproductive age from the Malawi National Micronutrient Survey, 2015–2016 2015-2016年马拉维全国微量营养素调查中非怀孕育龄妇女的叶酸和维生素B12状况与预测的神经管缺陷风险。
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-03-25 DOI: 10.1002/bdr2.2329
Yan Ping Qi, Krista S. Crider, Anne M. Williams, Katie Tripp, Carine Mapango, Elizabeth C. Rhodes, Eunice Nyirenda, Felix Phiri, Mindy Zhang, Shameem Jabbar, Christine M. Pfeiffer, Helena Pachón, Sarah Zimmerman, Jennifer L. Williams

Background

Maternal folate and vitamin B12 deficiency can lead to serious adverse pregnancy outcomes. There are no nationally representative estimates on folate and vitamin B12 status among women of reproductive age (WRA) in Malawi.

Objective

We assessed folate and vitamin B12 status among nonpregnant WRA in Malawi and predicted the risk of folate-sensitive neural tube defects (NTDs) were they to become pregnant.

Methods

Using data from the cross-sectional, nationally representative 2015–2016 Malawi Micronutrient Survey, we calculated the proportion of folate and vitamin B12 deficiency and insufficiency by demographic characteristics among 778 nonpregnant WRA (15–49 years). We predicted NTD prevalence using red blood cell (RBC) folate distributions and a published Bayesian model of the association between RBC folate and NTD risk. Analyses accounted for complex survey design.

Results

Among WRA, 8.5% (95% CI: 6.2, 11.6) and 13.3% (10.0, 17.4) had serum (<7 nmol/L) and RBC folate (<305 nmol/L) deficiency, respectively. The proportion of vitamin B12 deficiency (<148 pmol/L) and insufficiency (≤221 pmol/L) was 11.8% (8.6, 16.0) and 40.6% (34.1, 47.4), respectively. RBC folate insufficiency (<748 nmol/L, defined as the concentration associated with the threshold for elevated NTD risk: >8 cases per 10,000 births) was widespread: 81.4% (75.0, 86.4). The predicted NTD risk nationally was 24.7 cases per 10,000 live births. RBC folate insufficiency and higher predicted NTD risk were more common among WRA living in urban areas or with higher education.

Conclusions

These findings highlight the importance of nutritional and NTD surveillance in Malawi and the opportunity for improving folate and vitamin B12 nutrition among Malawian WRA.

背景:孕产妇叶酸和维生素 B12 缺乏可导致严重的不良妊娠结局。关于马拉维育龄妇女(WRA)的叶酸和维生素 B12 状态,目前还没有具有全国代表性的估计数据:我们评估了马拉维未孕育龄妇女的叶酸和维生素 B12 状况,并预测了她们怀孕后患叶酸敏感性神经管缺陷(NTD)的风险:利用具有全国代表性的 2015-2016 年马拉维微量营养素调查的横断面数据,我们按人口特征计算了 778 名未怀孕 WRA(15-49 岁)中叶酸和维生素 B12 缺乏和不足的比例。我们利用红细胞叶酸分布和已发表的红细胞叶酸与 NTD 风险之间关系的贝叶斯模型预测了 NTD 的发病率。分析考虑了复杂的调查设计:在 WRA 中,8.5%(95% CI:6.2, 11.6)和 13.3%(10.0, 17.4)的人血清叶酸缺乏(每 10,000 名新生儿中有 8 例),而在全国范围内,81.4%(75.0, 86.4)的人血清叶酸缺乏(每 10,000 名新生儿中有 8 例)。全国预测的新生儿非畸形风险为每万名活产婴儿 24.7 例。生活在城市地区或受过高等教育的妇女死亡率较高,红细胞叶酸不足和预测的NTD风险也较高:这些发现凸显了马拉维营养和NTD监测的重要性,以及改善马拉维WRA叶酸和维生素B12营养状况的机会。
{"title":"Folate and vitamin B12 status and predicted neural tube defects risk among nonpregnant women of reproductive age from the Malawi National Micronutrient Survey, 2015–2016","authors":"Yan Ping Qi,&nbsp;Krista S. Crider,&nbsp;Anne M. Williams,&nbsp;Katie Tripp,&nbsp;Carine Mapango,&nbsp;Elizabeth C. Rhodes,&nbsp;Eunice Nyirenda,&nbsp;Felix Phiri,&nbsp;Mindy Zhang,&nbsp;Shameem Jabbar,&nbsp;Christine M. Pfeiffer,&nbsp;Helena Pachón,&nbsp;Sarah Zimmerman,&nbsp;Jennifer L. Williams","doi":"10.1002/bdr2.2329","DOIUrl":"10.1002/bdr2.2329","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Maternal folate and vitamin B<sub>12</sub> deficiency can lead to serious adverse pregnancy outcomes. There are no nationally representative estimates on folate and vitamin B<sub>12</sub> status among women of reproductive age (WRA) in Malawi.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We assessed folate and vitamin B<sub>12</sub> status among nonpregnant WRA in Malawi and predicted the risk of folate-sensitive neural tube defects (NTDs) were they to become pregnant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using data from the cross-sectional, nationally representative 2015–2016 Malawi Micronutrient Survey, we calculated the proportion of folate and vitamin B<sub>12</sub> deficiency and insufficiency by demographic characteristics among 778 nonpregnant WRA (15–49 years). We predicted NTD prevalence using red blood cell (RBC) folate distributions and a published Bayesian model of the association between RBC folate and NTD risk. Analyses accounted for complex survey design.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among WRA, 8.5% (95% CI: 6.2, 11.6) and 13.3% (10.0, 17.4) had serum (&lt;7 nmol/L) and RBC folate (&lt;305 nmol/L) deficiency, respectively. The proportion of vitamin B<sub>12</sub> deficiency (&lt;148 pmol/L) and insufficiency (≤221 pmol/L) was 11.8% (8.6, 16.0) and 40.6% (34.1, 47.4), respectively. RBC folate insufficiency (&lt;748 nmol/L, defined as the concentration associated with the threshold for elevated NTD risk: &gt;8 cases per 10,000 births) was widespread: 81.4% (75.0, 86.4). The predicted NTD risk nationally was 24.7 cases per 10,000 live births. RBC folate insufficiency and higher predicted NTD risk were more common among WRA living in urban areas or with higher education.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These findings highlight the importance of nutritional and NTD surveillance in Malawi and the opportunity for improving folate and vitamin B<sub>12</sub> nutrition among Malawian WRA.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140206359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genome-wide analysis of spina bifida risk variants in a case–control study from Bangladesh 孟加拉国病例对照研究中脊柱裂风险变异的全基因组分析。
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-03-25 DOI: 10.1002/bdr2.2331
Gwen Tindula, Biju Issac, Sudipta Kumer Mukherjee, Sheikh Muhammad Ekramullah, D. M. Arman, Joynul Islam, Hafiza Sultana Suchanda, Liang Sun, Shira Rockowitz, David C. Christiani, Benjamin C. Warf, Maitreyi Mazumdar

Background

Human studies of genetic risk factors for neural tube defects, severe birth defects associated with long-term health consequences in surviving children, have predominantly been restricted to a subset of candidate genes in specific biological pathways including folate metabolism.

Methods

In this study, we investigated the association of genetic variants spanning the genome with risk of spina bifida (i.e., myelomeningocele and meningocele) in a subset of families enrolled from December 2016 through December 2022 in a case–control study in Bangladesh, a population often underrepresented in genetic studies. Saliva DNA samples were analyzed using the Illumina Global Screening Array. We performed genetic association analyses to compare allele frequencies between 112 case and 121 control children, 272 mothers, and 128 trios.

Results

In the transmission disequilibrium test analyses with trios only, we identified three novel exonic spina bifida risk loci, including rs140199800 (SULT1C2, p = 1.9 × 10−7), rs45580033 (ASB2, p = 4.2 × 10−10), and rs75426652 (LHPP, p = 7.2 × 10−14), after adjusting for multiple hypothesis testing. Association analyses comparing cases and controls, as well as models that included their mothers, did not identify genome-wide significant variants.

Conclusions

This study identified three novel single nucleotide polymorphisms involved in biological pathways not previously associated with neural tube defects. The study warrants replication in larger groups to validate findings and to inform targeted prevention strategies.

背景:神经管畸形是一种严重的先天缺陷,会对存活儿童的健康造成长期影响,人类对神经管畸形遗传风险因素的研究主要局限于特定生物通路(包括叶酸代谢)中的候选基因:在这项研究中,我们调查了从 2016 年 12 月到 2022 年 12 月在孟加拉国的一项病例对照研究中登记的家庭子集中横跨基因组的遗传变异与脊柱裂(即脊髓膜膨出和脑膜膨出)风险的相关性,孟加拉国的人口在遗传研究中通常代表性不足。唾液 DNA 样本使用 Illumina 全球筛查阵列进行分析。我们进行了遗传关联分析,比较了112名病例儿童和121名对照儿童、272名母亲和128名三人组之间的等位基因频率:结果:经过多重假设检验调整后,我们发现了三个新的外显子脊柱裂风险位点,包括 rs140199800(SULT1C2,p = 1.9 × 10-7)、rs45580033(ASB2,p = 4.2 × 10-10)和 rs75426652(LHPP,p = 7.2 × 10-14)。比较病例和对照的关联分析,以及包括其母亲的模型,均未发现全基因组范围内的显著变异:这项研究发现了三个新的单核苷酸多态性,这些单核苷酸多态性涉及以前与神经管缺陷无关的生物通路。这项研究需要在更大的群体中复制,以验证研究结果,并为有针对性的预防策略提供信息。
{"title":"Genome-wide analysis of spina bifida risk variants in a case–control study from Bangladesh","authors":"Gwen Tindula,&nbsp;Biju Issac,&nbsp;Sudipta Kumer Mukherjee,&nbsp;Sheikh Muhammad Ekramullah,&nbsp;D. M. Arman,&nbsp;Joynul Islam,&nbsp;Hafiza Sultana Suchanda,&nbsp;Liang Sun,&nbsp;Shira Rockowitz,&nbsp;David C. Christiani,&nbsp;Benjamin C. Warf,&nbsp;Maitreyi Mazumdar","doi":"10.1002/bdr2.2331","DOIUrl":"10.1002/bdr2.2331","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Human studies of genetic risk factors for neural tube defects, severe birth defects associated with long-term health consequences in surviving children, have predominantly been restricted to a subset of candidate genes in specific biological pathways including folate metabolism.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this study, we investigated the association of genetic variants spanning the genome with risk of spina bifida (i.e., myelomeningocele and meningocele) in a subset of families enrolled from December 2016 through December 2022 in a case–control study in Bangladesh, a population often underrepresented in genetic studies. Saliva DNA samples were analyzed using the Illumina Global Screening Array. We performed genetic association analyses to compare allele frequencies between 112 case and 121 control children, 272 mothers, and 128 trios.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the transmission disequilibrium test analyses with trios only, we identified three novel exonic spina bifida risk loci, including rs140199800 (<i>SULT1C2</i>, <i>p</i> = 1.9 × 10<sup>−7</sup>), rs45580033 (<i>ASB2</i>, <i>p</i> = 4.2 × 10<sup>−10</sup>), and rs75426652 (<i>LHPP</i>, <i>p</i> = 7.2 × 10<sup>−14</sup>), after adjusting for multiple hypothesis testing. Association analyses comparing cases and controls, as well as models that included their mothers, did not identify genome-wide significant variants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study identified three novel single nucleotide polymorphisms involved in biological pathways not previously associated with neural tube defects. The study warrants replication in larger groups to validate findings and to inform targeted prevention strategies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140206360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Birth Defects Research
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