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Transmission of behavioral and cognitive impairments across generations in rats subjected to prenatal valproic acid exposure 产前接触丙戊酸的大鼠行为和认知障碍的跨代传递
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-02-11 DOI: 10.1002/bdr2.2309
Farahnaz Taheri, Sara Joushi, Khadijeh Esmaeilpour, Mohammad Navid Ebrahimi, Zahra Taherizadeh, Parichehr Taheri, Vahid Sheibani

Background

Autism spectrum disorder (ASD) represents an inheritable neurodevelopmental condition characterized by social communication deficits and repetitive behaviors. Numerous studies have underscored the significant roles played by genetic and environmental factors in the etiology of ASD, and these factors are known to perpetuate behavioral impairments across generations.

Objectives

The primary objective of this study was to assess the behavioral and cognitive attributes in the second filial (F2) generation of male and female rats, with a particular focus on those whose parents had been exposed to valproic acid (VPA) during embryonic development.

Methods

In this study, a cohort of 32 male and 32 female rats from the second filial (F2) generation, referred to as Mother.ASD, Father.ASD, or Both.ASD, was examined. These designations indicate whether the mother, father, or both parents had experienced embryonic exposure to valproic acid (600 mg/kg, i.p.). During adolescence, the F2 pups underwent behavioral and cognitive assessments, including open field testing, marble burying, social interaction evaluations, and Morris water maze tasks.

Results

Our data revealed that while both the Mother.ASD and Father.ASD groups, regardless of sex, exhibited elevated anxiety-like behavior in the open field test. Only the Mother.ASD group displayed repetitive behaviors and deficits in social memory. Additionally, spatial memory impairments were observed in both sexes. These findings highlight the transmission of autistic-like behaviors in the offspring of Mother.ASD rats from both sexes. Nevertheless, future research endeavors should be more targeted in identifying the specific genes responsible for this transmission.

Conclusion

In summary, our findings underscore the transmission of autistic-like behaviors, including anxiety-like behavior, repetitive actions, impairments in social interactions, and deficits in memory, to the offspring of the Mother.ASD group, irrespective of their sex.

背景 自闭症谱系障碍(ASD)是一种可遗传的神经发育疾病,其特点是社交沟通障碍和重复行为。大量研究强调了遗传和环境因素在自闭症谱系障碍病因中的重要作用,而且众所周知,这些因素会使行为障碍代代相传。 目的 本研究的主要目的是评估雌雄大鼠第二代孝子(F2)的行为和认知属性,尤其关注那些父母在胚胎发育期间接触过丙戊酸(VPA)的大鼠。 方法 在这项研究中,我们对第二代孝子(F2)中的 32 只雄性大鼠和 32 只雌性大鼠进行了研究,这些大鼠被称为母亲 ASD、父亲 ASD 或双亲 ASD。这些名称表示母亲、父亲或父母双方在胚胎期是否接触过丙戊酸(600 毫克/千克,静脉注射)。在青春期,F2 幼崽接受了行为和认知评估,包括开阔地测试、埋弹珠、社会互动评估和莫里斯水迷宫任务。 结果 我们的数据显示,母亲ASD组和父亲ASD组,无论性别如何,都在野外测试中表现出焦虑行为。只有母亲ASD组表现出重复行为和社会记忆缺陷。此外,男女儿童都出现了空间记忆障碍。这些发现突显了母亲型自闭症大鼠的后代中自闭症样行为的传播。然而,未来的研究工作应更有针对性地确定造成这种遗传的特定基因。 结论 总之,我们的研究结果表明,自闭症样行为,包括焦虑样行为、重复性动作、社会交往障碍和记忆缺陷,会遗传给 Mother.ASD 组的后代,不论其性别如何。
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引用次数: 0
Antifungal medication use during early pregnancy and the risk of congenital heart defects in the National Birth Defects Prevention Study, 1997–2011 1997-2011年全国出生缺陷预防研究中孕早期抗真菌药物的使用与先天性心脏缺陷的风险
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-02-11 DOI: 10.1002/bdr2.2308
Eleni A. Papadopoulos, Meredith M. Howley, Sarah C. Fisher, Alissa R. Van Zutphen, Martha M. Werler, Paul A. Romitti, Marilyn L. Browne, for the National Birth Defects Prevention Study

Background

Fungal infections are common among pregnant people. Recent studies suggest positive associations between oral antifungals used to treat fungal infections and congenital heart defects (CHDs).

Methods

We estimated associations between first trimester antifungal use and 20 major, specific CHDs using data from the National Birth Defects Prevention Study (NBDPS), a multi-site, case–control study that included pregnancies with estimated delivery dates from October 1997 through December 2011. Infants with CHDs (“cases”) were ascertained from 10 birth defect surveillance programs. Live born infants without major birth defects (“controls”) were randomly selected from birth records or hospital discharge lists. First trimester antifungal use was self-reported via maternal interview. We estimated adjusted odds ratios (AORs) and 95% confidence intervals (CIs) using logistic regression with Firth's penalized likelihood.

Results

First trimester antifungal use was reported by 148/11,653 (1.3%) case and 123/11,427 (1.1%) control participants. We estimated AORs for 12 CHDs; six had AORs >1.5 (tetralogy of Fallot, double outlet right ventricle with transposition of the great arteries [DORV-TGA], atrioventricular septal defect, hypoplastic left heart syndrome, pulmonary atresia, muscular ventricular septal defect), and one (pulmonary valve stenosis) had an AOR <0.7. All CIs included the null, except for DORV-TGA.

Conclusions

First trimester antifungal use was rare. We observed some positive associations for several specific CHDs in our analysis, although the CIs largely included the null. Results do not support a large increase in risk, but smaller increases in risk for certain CHD cannot be ruled out.

背景 真菌感染在孕妇中很常见。最近的研究表明,用于治疗真菌感染的口服抗真菌药与先天性心脏缺陷(CHD)之间存在正相关。 方法 我们利用全国出生缺陷预防研究(NBDPS)的数据估算了怀孕头三个月使用抗真菌药物与 20 种主要的特定先天性心脏病之间的关系,NBDPS 是一项多地点病例对照研究,研究对象包括估计分娩日期为 1997 年 10 月至 2011 年 12 月的孕妇。患有先天性心脏病的婴儿("病例")来自 10 个出生缺陷监测项目。无重大出生缺陷的活产婴儿("对照组")从出生记录或出院名单中随机抽取。孕期前三个月使用抗真菌药物的情况是通过产妇访谈自我报告的。我们使用逻辑回归和 Firth 惩罚似然法估算了调整后的几率比(AOR)和 95% 的置信区间(CI)。 结果 148/11,653 例病例(1.3%)和 123/11,427 例对照组病例(1.1%)报告了孕期前三个月使用抗真菌药物的情况。我们估计了 12 种先天性心脏病的 AOR,其中 6 种的 AOR 为 1.5(法洛氏四联症、双出口右心室伴大动脉转位 [DORV-TGA]、房室间隔缺损、左心发育不全综合征、肺动脉闭锁、肌性室间隔缺损),1 种(肺动脉瓣狭窄)的 AOR 为 0.7。除 DORV-TGA 外,所有 CI 均包括 null。 结论 怀孕头三个月使用抗真菌药物的情况很少见。在我们的分析中,我们观察到与几种特定的先天性心脏病存在一些正相关关系,尽管 CIs 大多包含空值。结果不支持风险的大幅增加,但不能排除某些先心病风险的小幅增加。
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引用次数: 0
Prenatal exposure to pesticide mixture in Argentina: A pilot study in puerperal women from Santa Fe province 阿根廷产前接触农药混合物的情况:对圣菲省产褥期妇女的试点研究
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-02-06 DOI: 10.1002/bdr2.2307
Carlina Leila Colussi, Guillaume Martinez, Jean-Philippe Bellenger, Gisela Laura Poletta, María Fernanda Simoniello

Introduction

The epidemiological investigation of congenital anomalies (CA) represents a challenge due to the multiplicity of associated risk factors, notably environmental ones. The monitoring of genotoxic effects in different populations is a useful tool in human biomonitoring and has great biological importance in estimating the exposure risks to complex mixtures of chemical substances.

Objective

This study aimed to determine the presence of environmental xenobiotics and evaluate their genotoxic effect, in mothers of newborns with and without CA, and the possible association/correlation between those biomarkers and CA.

Materials and methods

A descriptive case and control cross-sectional study was developed on 290 postpartum women from Santa Fe, Argentina.

Results

Significant differences were observed between both groups, for places of residence and gynecological variables. Metabolites of organochlorine (OC), organophosphate (OP), and pyrethroid (PYR) pesticides were detected. The most frequently detected compounds were atrazine (ATZ) (57.14%), carbendazim (CBZ) (46.42%), and methylparaben (46.42%), among others. A positive correlation was found between the number of pesticides in blood and genotoxic variables. On the other hand, mothers of children with genitourinary anomalies were the ones with the highest concentrations of ATZ and OP.

Discussion and conclusion

These results showed a deep background in the health reality of Santa Fe, which could greatly impact the health of future adults, who have been born preterm. On the other hand, the mixture of pesticides detected confirms the environmental living conditions of women and the transplacental exposure to these compounds in each pregnancy. The potential effects on long-term descendent health are unknown and unpredictable.

引言 先天性畸形(CA)的流行病学调查是一项挑战,因为相关的风险因素,尤其是环境因素具有多重性。监测不同人群的基因毒性效应是人类生物监测的有用工具,对于估计接触复杂混合化学物质的风险具有重要的生物学意义。 本研究旨在确定患有和未患有 CA 的新生儿母亲体内是否存在环境异种生物,并评估其基因毒性效应,以及这些生物标志物与 CA 之间可能存在的关联/相关性。 材料和方法 对阿根廷圣菲的 290 名产后妇女进行了一项描述性病例和对照横断面研究。 结果 观察到两组妇女在居住地和妇科变量方面存在显著差异。检测到了有机氯(OC)、有机磷(OP)和拟除虫菊酯(PYR)农药的代谢物。最常检测到的化合物是阿特拉津(ATZ)(57.14%)、多菌灵(CBZ)(46.42%)和甲基对硫磷(46.42%)等。血液中农药的数量与基因毒性变量之间呈正相关。另一方面,泌尿生殖系统异常儿童的母亲体内 ATZ 和 OP 的浓度最高。 讨论与结论 这些结果表明,圣达菲的健康现实有着深厚的背景,这可能会对早产儿未来成人的健康产生极大的影响。另一方面,检测到的杀虫剂混合物证实了妇女的生活环境条件以及每次怀孕时胎盘暴露于这些化合物的情况。对后代长期健康的潜在影响是未知的,也是不可预测的。
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引用次数: 0
Investigation of a transient increase in omphalocele prevalence in a birth cohort of TRICARE beneficiaries 调查 TRICARE 受益人出生队列中脐带绕颈症发病率的短暂上升
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-01-31 DOI: 10.1002/bdr2.2305
Jackielyn Lanning, Sandra Michelle Magallon, Anna T. Bukowinski, Gia R. Gumbs, Ava Marie S. Conlin, Clinton Hall

Background

The Department of Defense Birth and Infant Health Research (BIHR) program leverages medical encounter data to conduct birth defect surveillance among infants born to military families. Omphalocele is a major abdominal wall defect with an annual prevalence of ~2 per 10,000 births in BIHR data, but an unexpected increase was observed during 2017–2019, reaching 6.4 per 10,000 births in 2018. To investigate this transient increase in prevalence, this study aimed to validate the omphalocele case algorithm among infants born 2016–2021.

Methods

Omphalocele cases were identified by ICD-10 code Q79.2 (exomphalos) on one inpatient or two outpatient infant encounter records and validated using parental and infant electronic health records. Characteristics of true and false positive cases were assessed using bivariate analyses and compared over time.

Results

Of 638,905 live births from 2016 to 2021, 230 met the ICD-10 case definition for omphalocele; 138 (60.0%) cases were eligible for validation, of which 68 (49.3%) were true positives. The geometric mean time from birth to first ICD-10 omphalocele diagnosis was 1.1 (standard error [SE] 0.1) days for true positives and 11.9 (SE 3.1) days for false positives. Among the 70 false positives, 36 (51.4%) were cases of confirmed umbilical hernia; rates of umbilical hernia and delayed omphalocele diagnoses (>30 days after birth) were elevated among false positives during 2017–2019.

Conclusions

Higher misuse of ICD-10 code Q79.2 during 2017–2019 likely influenced the associated increase in omphalocele prevalence. Timing of diagnosis should be considered for omphalocele case definitions using medical encounter data.

背景 美国国防部出生和婴儿健康研究(BIHR)计划利用医疗会诊数据对军人家庭出生的婴儿进行出生缺陷监测。脐膨出是一种主要的腹壁缺陷,在 BIHR 数据中的年患病率约为每万名新生儿中 2 例,但在 2017-2019 年期间出现了意外增长,2018 年达到每万名新生儿中 6.4 例。为了调查这种患病率的短暂增长,本研究旨在验证 2016-2021 年出生婴儿中的脐膨出病例算法。 方法 根据一名住院患者或两名门诊患者的婴儿就诊记录中的 ICD-10 代码 Q79.2(颅外畸形)确定脐膨出病例,并使用父母和婴儿的电子健康记录进行验证。使用双变量分析评估了真阳性病例和假阳性病例的特征,并对不同时期的特征进行了比较。 结果 在2016年至2021年的638905例活产中,有230例符合ICD-10对卵脐病例的定义;138例(60.0%)符合验证条件,其中68例(49.3%)为真阳性。真阳性病例从出生到首次确诊 ICD-10 脑积水的几何平均时间为 1.1 天(标准误差 [SE] 0.1),假阳性病例为 11.9 天(标准误差 3.1)。在 70 例假阳性病例中,36 例(51.4%)为确诊脐疝;2017-2019 年期间,假阳性病例中脐疝和延迟脐疝诊断(>出生后 30 天)的比率升高。 结论 2017-2019年期间ICD-10代码Q79.2的误用率较高,可能影响了相关的脐疝患病率的增加。在使用医疗会诊数据进行脐膨出病例定义时应考虑诊断时机。
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引用次数: 0
Birth defects surveillance: Working together to advance science 出生缺陷监测:共同努力推动科学发展
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-01-31 DOI: 10.1002/bdr2.2304
Marilyn L. Browne, Sarah C. Fisher, Wendy N. Nembhard

Since 2000, the National Birth Defects Prevention Network (NBDPN), in collaboration with the US National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention, has provided a special issue of Birth Defects Research focused on advancing the field of birth defects surveillance, epidemiology, and public health practice. The annual NBDPN special issue consists of contributed manuscripts using birth defects surveillance data for epidemiologic research or for improving birth defects surveillance methods. This year, our special issue includes updated national prevalence estimates for selected major birth defects, seven original research papers, and an invited editorial. Several of the accepted manuscripts highlight collaborative efforts between birth defects surveillance systems across the country: through the NBDPN, the National Birth Defects Prevention Study, and the Muscular Dystrophy Surveillance, Tracking, and Research Network. These studies offer examples of the power of pooling data and leveraging resources to conduct high-quality birth defects research.

自 2000 年以来,美国国家出生缺陷预防网络 (NBDPN) 与美国疾病控制和预防中心 (Center for Disease Control and Prevention) 的美国国家出生缺陷和发育障碍中心 (National Center on Birth Defects and Developmental Disabilities) 合作,为《出生缺陷研究》 (Birth Defects Research) 提供了一期特刊,重点关注出生缺陷监测、流行病学和公共卫生实践领域的进展。NBDPN 年度特刊包括利用出生缺陷监测数据进行流行病学研究或改进出生缺陷监测方法的投稿。今年,我们的特刊包括对部分主要出生缺陷的最新全国患病率估计、七篇原创研究论文和一篇特邀社论。其中几篇被录用的稿件重点介绍了全国出生缺陷监测系统之间的合作:通过全国出生缺陷监测网络(NBDPN)、全国出生缺陷预防研究(National Birth Defects Prevention Study)和肌肉萎缩症监测、跟踪和研究网络(Muscular Dystrophy Surveillance, Tracking, and Research Network)。这些研究举例说明了汇集数据和利用资源开展高质量出生缺陷研究的力量。
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引用次数: 0
Implications of abortion legislation on birth defect surveillance 堕胎立法对出生缺陷监测的影响
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-01-31 DOI: 10.1002/bdr2.2302
Amanda L. Elmore, Dominique Heinke, Jean Paul Tanner, Russell S. Kirby, Sarah G. Obican, Jason L. Salemi

Background

Surveillance of birth defects is critical to track prevalence and inform prevention efforts. Previous studies suggest that restricting abortion may lead to an increase in birth defect prevalence. However, it is unclear how abortion legislation will impact birth defect prevalence estimates reported by state-based surveillance programs.

Methods

We described current abortion legislation and surveillance program methodology, by state, as a foundation for understanding the program-level impact on surveillance. We estimated the quantitative effect of abortion legislation on birth defect prevalence for various scenarios using first-order Monte Carlo simulation. Finally, we discuss the implications for interpreting birth defect prevalence estimates following abortion legislation.

Results

Among states that restrict abortion ≤18 weeks and have a surveillance program (N = 19), eight programs (42%) capture elective terminations (<20 weeks) and 17 (89%) include fetal deaths (≥20 weeks) in their estimates. Abortion bans increased the prevalence of any birth defect by 16.6%, 15.8%, and 8.7% for systems with live births only, all outcomes ≥20-weeks, and all outcomes ≥10-weeks, respectively. We found the largest change in prevalence for anencephaly with an estimated 32.5% increase among systems with live births only.

Conclusions

Abortion legislation is likely to further exacerbate the difficulties of multi-state birth defect research and surveillance, while also hindering analysis of intra-state prevalence trends. Birth defect surveillance systems in states with abortion bans may wish to consider monitoring and reporting changes in pregnancy outcomes and infant survival, in addition to birth defect prevalence, to inform public health and health care service needs.

背景 出生缺陷监测对于追踪出生缺陷的流行情况并为预防工作提供信息至关重要。以往的研究表明,限制堕胎可能会导致出生缺陷发生率上升。然而,目前尚不清楚堕胎立法将如何影响各州监测计划报告的出生缺陷患病率估计值。 方法 我们按州描述了当前的堕胎立法和监测计划方法,为了解计划层面对监测的影响奠定了基础。我们使用一阶蒙特卡罗模拟估算了堕胎立法在各种情况下对出生缺陷流行率的定量影响。最后,我们讨论了堕胎立法对出生缺陷发生率估计值的解释意义。 结果 在限制堕胎≤18 周且有监测计划的州(N = 19)中,有 8 个州(42%)将选择性终止妊娠(20 周)和 17 个州(89%)将胎儿死亡(≥20 周)纳入其估计值中。在仅有活产、所有结果≥20 周和所有结果≥10 周的系统中,堕胎禁令使任何出生缺陷的发生率分别增加了 16.6%、15.8% 和 8.7%。我们发现无脑畸形的发病率变化最大,在仅有活产的系统中估计增加了 32.5%。 结论 堕胎立法可能会进一步加剧多州出生缺陷研究和监测的困难,同时也会阻碍对州内患病率趋势的分析。禁止堕胎的各州的出生缺陷监测系统不妨考虑除监测和报告出生缺陷患病率外,还监测和报告妊娠结局和婴儿存活率的变化,以便为公共卫生和医疗保健服务需求提供信息。
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引用次数: 0
Reproductive toxicity of JJH201501 in rats: Perinatal study JJH201501 对大鼠的生殖毒性:围产期研究
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-01-19 DOI: 10.1002/bdr2.2303
Menghan Sun, Peng Yue, Hongqun Qiao

Introduction

In this study, JJH201501 was examined for reproductive toxicity during the perinatal period to support its safety as a novel serotonergic agent (5-HT) antidepressant. Pregnant Sprague–Dawley rats (F0, n = 24/group) were continuously exposed to 0 (control), 6, 18, and 60 mg/kg body weight/day of JJH201501 by intragastric administration from gestation day 15 to lactation day 21.

Methods

During this period, maternal toxicity was evaluated based on clinical signs, body weight, feed intake, delivery condition, litter parameters, and necropsy, with body weight, sex ratios, malformation incidence, physical, and neurodevelopmental assessments conducted on all offspring rats. Ten pups (male:female 1:1) from each dam within each dose group on postnatal day 4 (PND4) were randomly selected. One pair was evaluated for behavior evaluations (F1a) after PND35, one for reproduction performance (F1b) after 10 weeks, and three for organ weight and deformities (F1c) on PND35. After successful mating, F1b male rats were weighed and dissected to assess reproductive organ weight and sperm motility. Pregnant F1b rats were weighed and monitored for food intake twice weekly until laparotomy on GD14, which recorded live/dead fetuses, resorptions, implantations, corpora lutea, and uterine weight. Some statistical differences were found between the JJH-treated and control groups in maternal weight, food consumption, and F1 body weight and water maze performance.

Results

Autopsy results showed that JJH201501 had a low cardiac index effect in F0, with no significant histopathological changes detected. Only one F1 offspring died in the high-dose group throughout the experiment. Due to the lack of dose-dependent effects and the consistent growth pattern of these alterations, the study findings do not suggest any toxicological significance for the observed results.

Conclusion

In conclusion, the no-observed-adverse-effect level of JJH201501 for perinatal rats is about 60 mg/kg b.w./day.

引言 本研究检测了 JJH201501 在围产期的生殖毒性,以支持其作为新型血清素能(5-HT)抗抑郁剂的安全性。从妊娠期第 15 天到哺乳期第 21 天,通过胃内给药的方式,对怀孕的 Sprague-Dawley 大鼠(F0,n = 24/组)连续暴露于 0(对照组)、6、18 和 60 毫克/千克体重/天的 JJH201501。 方法 在此期间,根据临床症状、体重、进食量、分娩状况、产仔参数和尸体解剖评估母体毒性,并对所有后代大鼠进行体重、性别比例、畸形发生率、体格和神经发育评估。在每个剂量组中,随机抽取出生后第 4 天(PND4)每只母鼠的 10 只幼鼠(雌雄比例为 1:1)。一对在出生后第 35 天进行行为评估(F1a),一对在 10 周后进行繁殖性能评估(F1b),三对在出生后第 35 天进行器官重量和畸形评估(F1c)。交配成功后,对 F1b 雄性大鼠进行称重和解剖,以评估生殖器官重量和精子活力。对怀孕的 F1b 大鼠每周称重两次,并监测其进食情况,直到 GD14 进行剖腹探查,记录活胎/死胎、再殖、植入、黄体和子宫重量。JJH处理组和对照组在母体体重、食量、F1体重和水迷宫表现方面存在一些统计学差异。 结果 解剖结果显示,JJH201501 对 F0 的心脏指数影响较低,未发现明显的组织病理学变化。在整个实验过程中,高剂量组仅有一只 F1 后代死亡。由于缺乏剂量依赖性影响以及这些变化的一致生长模式,研究结果并不表明所观察到的结果具有任何毒理学意义。 结论 总之,JJH201501 对围产期大鼠的无观测不良效应水平约为 60 毫克/千克体重/天。
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引用次数: 0
National population-based estimates for major birth defects, 2016–2020 2016-2020 年全国主要出生缺陷人口估计数
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-01-19 DOI: 10.1002/bdr2.2301
Erin B. Stallings, Jennifer L. Isenburg, Rachel E. Rutkowski, Russell S. Kirby, Wendy N. Nembhard, Theresa Sandidge, Stephan Villavicencio, Hoang H. Nguyen, Daria M. McMahon, Eirini Nestoridi, Laura J. Pabst, for the National Birth Defects Prevention Network

Background

We provide updated crude and adjusted prevalence estimates of major birth defects in the United States for the period 2016–2020.

Methods

Data were collected from 13 US population-based surveillance programs that used active or a combination of active and passive case ascertainment methods to collect all birth outcomes. These data were used to calculate pooled prevalence estimates and national prevalence estimates adjusted for maternal race/ethnicity for all conditions, and maternal age for trisomies and gastroschisis. Prevalence was compared to previously published national estimates from 1999 to 2014.

Results

Adjusted national prevalence estimates per 10,000 live births ranged from 0.63 for common truncus to 18.65 for clubfoot. Temporal changes were observed for several birth defects, including increases in the prevalence of atrioventricular septal defect, tetralogy of Fallot, omphalocele, trisomy 18, and trisomy 21 (Down syndrome) and decreases in the prevalence of anencephaly, common truncus, transposition of the great arteries, and cleft lip with and without cleft palate.

Conclusion

This study provides updated national estimates of selected major birth defects in the United States. These data can be used for continued temporal monitoring of birth defects prevalence. Increases and decreases in prevalence since 1999 observed in this study warrant further investigation.

背景 我们提供了 2016-2020 年期间美国主要出生缺陷的最新粗略估计值和调整后估计值。 方法 我们从 13 个美国人口监测项目中收集数据,这些项目采用主动或主动与被动相结合的病例确定方法来收集所有出生结果。这些数据被用来计算汇总的患病率估计值和全国患病率估计值,所有病症的患病率估计值均根据孕产妇的种族/人种进行了调整,三体综合征和胃畸形的患病率估计值则根据孕产妇的年龄进行了调整。患病率与之前公布的 1999 年至 2014 年全国患病率进行了比较。 结果 每万名活产婴儿中,经过调整的全国患病率估计值从普通截足的 0.63 到马蹄内翻足的 18.65 不等。几种出生缺陷的患病率在时间上发生了变化,包括房室间隔缺损、法洛氏四联症、脐膨出、18 三体综合征和 21 三体综合征(唐氏综合征)的患病率上升,无脑儿、总截管、大动脉转位、唇裂伴或不伴腭裂的患病率下降。 结论 本研究提供了美国部分主要出生缺陷的最新全国估计数据。这些数据可用于对出生缺陷患病率进行持续的时间监测。本研究中观察到的自 1999 年以来患病率的增减情况值得进一步研究。
{"title":"National population-based estimates for major birth defects, 2016–2020","authors":"Erin B. Stallings,&nbsp;Jennifer L. Isenburg,&nbsp;Rachel E. Rutkowski,&nbsp;Russell S. Kirby,&nbsp;Wendy N. Nembhard,&nbsp;Theresa Sandidge,&nbsp;Stephan Villavicencio,&nbsp;Hoang H. Nguyen,&nbsp;Daria M. McMahon,&nbsp;Eirini Nestoridi,&nbsp;Laura J. Pabst,&nbsp;for the National Birth Defects Prevention Network","doi":"10.1002/bdr2.2301","DOIUrl":"https://doi.org/10.1002/bdr2.2301","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>We provide updated crude and adjusted prevalence estimates of major birth defects in the United States for the period 2016–2020.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data were collected from 13 US population-based surveillance programs that used active or a combination of active and passive case ascertainment methods to collect all birth outcomes. These data were used to calculate pooled prevalence estimates and national prevalence estimates adjusted for maternal race/ethnicity for all conditions, and maternal age for trisomies and gastroschisis. Prevalence was compared to previously published national estimates from 1999 to 2014.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Adjusted national prevalence estimates per 10,000 live births ranged from 0.63 for common truncus to 18.65 for clubfoot. Temporal changes were observed for several birth defects, including increases in the prevalence of atrioventricular septal defect, tetralogy of Fallot, omphalocele, trisomy 18, and trisomy 21 (Down syndrome) and decreases in the prevalence of anencephaly, common truncus, transposition of the great arteries, and cleft lip with and without cleft palate.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study provides updated national estimates of selected major birth defects in the United States. These data can be used for continued temporal monitoring of birth defects prevalence. Increases and decreases in prevalence since 1999 observed in this study warrant further investigation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139504596","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
Public health priorities for gastroschisis: Summary of a meeting sponsored by the Centers for Disease Control and Prevention and the March of Dimes 胃畸形的公共卫生优先事项:由美国疾病控制和预防中心与 March of Dimes 发起的会议摘要
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-01-19 DOI: 10.1002/bdr2.2299
Naomi K. Tepper, Julia Chowdhury, Cynthia A. Moore, Martha M. Werler, Kathryn Mishkin, Jennita Reefhuis

Background

Gastroschisis has increased worldwide over several decades; however, there are significant gaps in understanding risk factors for development of the defect, particularly those that might be modifiable. Despite advances in survival, little is known about longer-term outcomes for affected individuals.

Methods

On April 27– and 28, 2023, the National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention (CDC) and March of Dimes sponsored a meeting entitled “Public Health Priorities for Gastroschisis”. The meeting goals were to review current knowledge on gastroschisis, discuss research gaps, and identify future priorities for public health surveillance, research, and action related to gastroschisis. Meeting participants encompassed a broad range of expertise and experience, including public health, clinical care of individuals with gastroschisis, affected individuals and families, and representatives from professional organizations and federal agencies.

Results

Several goals were identified for future public health surveillance and research, including focused theory-driven research on risk factors and increased study of longer-term effects of gastroschisis through improved surveillance. Certain public health actions were identified, that which could improve the care of affected individuals, including increased education of providers and enhanced resources for patients and families.

Conclusions

These efforts may lead to an improved understanding of pathogenesis, risk factors, and outcomes and to improved care throughout the lifespan.

背景 在过去的几十年里,胃畸形在全球范围内呈上升趋势;然而,人们对这种缺陷发生的风险因素,尤其是那些可以改变的风险因素的了解还存在很大差距。尽管在存活率方面取得了进展,但对受影响个体的长期预后却知之甚少。 方法 2023 年 4 月 27 日和 28 日,美国疾病控制和预防中心(CDC)的国家出生缺陷和发育障碍中心(National Center on Birth Defects and Developmental Disabilities)与 March of Dimes 联合主办了一次题为 "胃畸形的公共卫生优先事项 "的会议。会议的目的是回顾目前有关胃畸形的知识,讨论研究差距,并确定与胃畸形有关的公共卫生监测、研究和行动的未来优先事项。与会者具有广泛的专业知识和经验,包括公共卫生、胃裂患者的临床护理、受影响的个人和家庭以及专业组织和联邦机构的代表。 会议结果 确定了未来公共卫生监测和研究的几个目标,包括对风险因素进行重点理论研究,以及通过改进监测加强对胃螺裂长期影响的研究。还确定了一些公共卫生行动,这些行动可以改善对受影响个体的护理,包括加强对医疗服务提供者的教育以及为患者和家属提供更多资源。 结论 这些努力可能会加深对发病机制、风险因素和结果的了解,并改善整个生命周期的护理。
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引用次数: 0
Effects of music on cognitive behavioral impairments in both sex of adult rats exposed prenatally to valproic acid 音乐对产前暴露于丙戊酸的成年雌雄大鼠认知行为障碍的影响
IF 2.1 4区 医学 Q1 Medicine Pub Date : 2024-01-19 DOI: 10.1002/bdr2.2300
Farahnaz Taheri, Sara Joushi, Lily Mohammadipoor-Ghasemabad, Iman Rad, Khadijeh Esmaeilpour, Vahid Sheibani

Background

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in reciprocal social interactions, deficits in communication, and restrictive and repetitive behaviors and interests. In previous studies, music has been identified as an intervention therapy for children with ASD.

Objectives

The present study evaluated the effects of music on cognitive behavioral impairments in both sexes of adult rats exposed prenatally to Valproic acid.

Methods

For induction of autism, pregnant female rats were pretreated with either saline or VPA (600 mg/kg.i.p.) at gestational day (GD) 12.5. Male and female offspring were divided into Saline.Non-Music, VPA.Non-Music, Saline.Music, and VPA.Music groups. The adult rats in the music groups were exposed to Mozart's piano sonata K.448 for 30 days (4 h/day), from postnatal day (PND) 60 to 90. Social interaction and Morris water maze (MWM) tasks were tested at PND 90.

Results

Our results revealed that prenatal exposure to VPA decreased sociability and social memory performance in both sexes of adult rats. Moreover, prenatal exposure to VPA created learning and memory impairments in both sexes of adult rats in the MWM task. Music intervention improved sociability in both sexes of VPA-exposed rats and social memory in both sexes of VPA-exposed rats, especially in females. Furthermore, our results revealed that music ameliorated learning impairments in VPA-exposed female rats in the MWM task. In addition, music improved spatial memory impairments in VPA-exposed rats of both sexes, especially in females, which needs more investigation in molecular and histological fields in future studies.

Conclusion

Music intervention improved sociability and social memory in adult VPA-exposed rats, especially in female animals. Furthermore, music improved memory impairments in VPA-exposed rats of both sexes. It seems that music had a better influence on female rats. However, future studies need more investigations in molecular and histological fields.

背景 自闭症谱系障碍(ASD)是一种神经发育障碍,其特征是互惠的社会交往障碍、沟通障碍以及限制性和重复性的行为和兴趣。在以往的研究中,音乐被认为是一种针对 ASD 儿童的干预疗法。 本研究评估了音乐对产前暴露于丙戊酸的成年雌雄大鼠认知行为障碍的影响。 方法 为了诱导自闭症,怀孕雌性大鼠在妊娠日(GD)12.5时接受生理盐水或VPA(600 mg/kg.i.p.)预处理。雄性和雌性后代被分为生理盐水非音乐组、VPA非音乐组、生理盐水音乐组和VPA音乐组。音乐组的成年大鼠在出生后第 60 至 90 天接触莫扎特钢琴奏鸣曲 K.448,为期 30 天(每天 4 小时)。在出生后第 90 天进行了社交互动和莫里斯水迷宫(MWM)任务测试。 结果 我们的研究结果表明,产前暴露于 VPA 会降低成年大鼠的社交能力和社会记忆能力。此外,产前暴露于VPA会导致成年大鼠在MWM任务中出现学习和记忆障碍。音乐干预改善了暴露于VPA的雌雄大鼠的社交能力,也改善了暴露于VPA的雌雄大鼠的社会记忆,尤其是雌性大鼠。此外,我们的研究结果表明,音乐能改善暴露于 VPA 的雌性大鼠在 MWM 任务中的学习障碍。此外,音乐还改善了暴露于 VPA 的雌雄大鼠的空间记忆障碍,尤其是雌性大鼠,这需要在今后的研究中从分子和组织学领域进行更多的调查。 结论 音乐干预改善了暴露于 VPA 的成年大鼠的社交能力和社交记忆,尤其是雌性大鼠。此外,音乐还改善了暴露于 VPA 的雌雄大鼠的记忆障碍。似乎音乐对雌性大鼠的影响更大。不过,未来的研究还需要在分子和组织学领域进行更多的调查。
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引用次数: 0
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Birth Defects Research
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