Birth Defects Research最新文献_第2页

Enhancing the Classification of Congenital Heart Defects for Outcome Association Studies in Birth Defects Registries 加强先天性心脏缺陷分类，促进出生缺陷登记结果关联研究。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-08-22 DOI: 10.1002/bdr2.2393

Sara B. Stephens, Renata H. Benjamin, Keila N. Lopez, Brett R. Anderson, Angela E. Lin, Charles J. Shumate, Wendy N. Nembhard, Shaine A. Morris, A. J. Agopian

Introduction

Traditional strategies for grouping congenital heart defects (CHDs) using birth defect registry data do not adequately address differences in expected clinical consequences between different combinations of CHDs. We report a lesion-specific classification system for birth defect registry–based outcome studies.

Methods

For Core Cardiac Lesion Outcome Classifications (C-CLOC) groups, common CHDs expected to have reasonable clinical homogeneity were defined. Criteria based on combinations of Centers for Disease and Control-modified British Pediatric Association (BPA) codes were defined for each C-CLOC group. To demonstrate proof of concept and retention of reasonable case counts within C-CLOC groups, Texas Birth Defect Registry data (1999–2017 deliveries) were used to compare case counts and neonatal mortality between traditional vs. C-CLOC classification approaches.

Results

C-CLOC defined 59 CHD groups among 62,262 infants with CHDs. Classifying cases into the single, mutually exclusive C-CLOC group reflecting the highest complexity CHD present reduced case counts among lower complexity lesions (e.g., 86.5% of cases with a common atrium BPA code were reclassified to a higher complexity group for a co-occurring CHD). As expected, C-CLOC groups had retained larger sample sizes (i.e., representing presumably better-powered analytic groups) compared to cases with only one CHD code and no occurring CHDs.

Discussion

This new CHD classification system for investigators using birth defect registry data, C-CLOC, is expected to balance clinical outcome homogeneity in analytic groups while maintaining sufficiently large case counts within categories, thus improving power for CHD-specific outcome association comparisons. Future outcome studies utilizing C-CLOC-based classifications are planned.

导言：利用出生缺陷登记数据对先天性心脏缺陷（CHD）进行分组的传统策略并不能充分解决不同CHD组合之间预期临床后果的差异。我们报告了一种基于出生缺陷登记结果研究的病变特异性分类系统：对于核心心脏病变结果分类（C-CLOC）组，定义了预期具有合理临床同质性的常见 CHD。为每个 C-CLOC 组定义了基于疾病与控制中心（Centers for Disease and Control）修改后的英国儿科协会（British Pediatric Association，BPA）代码组合的标准。为了证明概念和在 C-CLOC 组内保留合理的病例数，我们使用德克萨斯州出生缺陷登记数据（1999-2017 年分娩情况）比较了传统分类方法与 C-CLOC 分类方法的病例数和新生儿死亡率：结果：C-CLOC 在 62,262 名患有先天性心脏病的婴儿中定义了 59 个先天性心脏病组。将病例归入单一的、相互排斥的 C-CLOC 组别，反映了复杂程度最高的 CHD，这减少了复杂程度较低的病变的病例数（例如，86.5% 的具有普通心房 BPA 代码的病例被重新归入复杂程度较高的组别，因为并发了 CHD）。不出所料，与仅有一个CHD代码且未发生CHD的病例相比，C-CLOC组保留了更大的样本量（即代表了可能更好的分析组）：讨论：对于使用出生缺陷登记数据的研究人员来说，C-CLOC 这一新的 CHD 分类系统有望平衡分析组中临床结果的同质性，同时在分类中保持足够大的病例数，从而提高 CHD 特异性结果关联比较的功率。我们计划在未来利用基于C-CLOC的分类进行结果研究。

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引用次数: 0

Folate and Vitamin B12 Status in Women of Reproductive Age in Rural Haryana, India: Estimating Population-Based Prevalence for Neural Tube Defects 印度哈里亚纳邦农村育龄妇女的叶酸和维生素 B12 状况：估算基于人口的神经管畸形患病率。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-08-20 DOI: 10.1002/bdr2.2390

Reena Das, Mona Duggal, Jorge Rosenthal, Ankita Kankaria, Hari K. Senee, Shameem Jabbar, Manmeet Kaur, Vishal Kumar, Swati Bhardwaj, Neha Singh, Gursharan S. Dhanjal, Akash Kumar, Charles E. Rose, Rita Bhatia, Rachita Gupta, Suresh Dalpath, Krista S. Crider, Mindy Zhang, Christine M. Pfeiffer, Rakesh Gupta, Rajesh Mehta, Neena Raina, Lorraine F. Yeung

Background

Folate and vitamin B12 deficiencies in pregnant women are associated with increased risk for adverse maternal and infant health outcomes, including neural tube defects (NTDs).

Methods

A population-based cross-sectional survey was conducted in two rural areas in Ambala District, Haryana, India in 2017 to assess baseline folate and vitamin B12 status among women of reproductive age (WRA) and predict the prevalence of NTDs. We calculated the prevalence of folate and vitamin B12 deficiency and insufficiency by demographic characteristics among 775 non-pregnant, non-lactating WRA (18–49 years). Using red blood cell (RBC) folate distributions and an established Bayesian model, we predicted NTD prevalence. All analyses were conducted using SAS-callable SUDAAN Version 11.0.4 to account for complex survey design.

Results

Among WRA, 10.1% (95% CI: 7.9, 12.7) and 9.3% (95% CI: 7.4, 11.6) had serum (<7 nmol/L) and RBC folate (<305 nmol/L) deficiency, respectively. The prevalence of RBC folate insufficiency (<748 nmol/L) was 78.3% (95% CI: 75.0, 81.3) and the predicted NTD prevalence was 21.0 (95% uncertainly interval: 16.9, 25.9) per 10,000 live births. Prevalences of vitamin B12 deficiency (<200 pg/mL) and marginal deficiency (≥200 pg/mL and ≤300 pg/mL) were 57.7% (95% CI: 53.9, 61.4) and 23.5% (95% CI: 20.4, 26.9), respectively.

Conclusions

The magnitude of folate insufficiency and vitamin B12 deficiency in this Northern Indian population is a substantial public health concern. The findings from the survey help establish the baseline against which results from future post-fortification surveys can be compared.

背景：孕妇叶酸和维生素 B12 缺乏与孕产妇和婴儿不良健康结果（包括神经管缺陷（NTD））的风险增加有关：2017年，我们在印度哈里亚纳邦安巴拉县的两个农村地区开展了一项基于人群的横断面调查，以评估育龄妇女（WRA）的叶酸和维生素B12基线状况，并预测NTD的患病率。我们根据人口统计学特征计算了 775 名非怀孕、非哺乳期 WRA（18-49 岁）中叶酸和维生素 B12 缺乏和不足的患病率。利用红细胞（RBC）叶酸分布和已建立的贝叶斯模型，我们对 NTD 患病率进行了预测。所有分析均使用可调用的 SAS SUDAAN 11.0.4 版进行，以考虑复杂的调查设计：在 WRA 中，10.1%（95% CI：7.9, 12.7）和 9.3%（95% CI：7.4, 11.6）的人血清中含有叶酸：印度北部人口叶酸不足和维生素 B12 缺乏的严重程度是一个重大的公共卫生问题。此次调查的结果有助于建立基线，以便对未来营养强化后的调查结果进行比较。

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引用次数: 0

Lead brownfields and birth defects in North Carolina 2003–2015: A cross-sectional case–control study 2003-2015 年北卡罗来纳州含铅棕色地块与出生缺陷：横断面病例对照研究。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-08-13 DOI: 10.1002/bdr2.2367

Erik D. Slawsky, Anne M. Weaver, Thomas J. Luben, Kristen M. Rappazzo

Background

Brownfields consist of abandoned and disused sites, spanning many former purposes. Brownfields represent a heterogenous yet ubiquitous exposure for many Americans, which may contain hazardous wastes and represent urban blight. Neonates and pregnant individuals are often sensitive to subtle environmental exposures. We evaluate if residential exposure to lead (Pb) brownfields is associated with birth defects.

Methods

Using North Carolina birth records from 2003 to 2015, we sampled 169,499 births within 10 km of a Pb brownfield with 3255 cardiovascular, central nervous, or external defects identified. Exposure was classified by binary specification of residing within 3 km of a Pb brownfield. We utilized multivariable logistic regression models adjusted for demographic covariates available from birth records and 2010 Census to estimate odds ratios (OR) and 95% confidence intervals (CI). Effect measure modification was assessed by inclusion of interaction terms and stratification for the potential modifiers of race/ethnicity and diabetes status.

Results

We observed positive associations between cardiovascular birth defects and residential proximity to Pb brownfields, OR (95%CI): 1.15 (1.04, 1.26), with suggestive positive associations for central nervous 1.16 (0.91, 1.47) and external defects 1.19 (0.88, 1.59). We did observe evidence of effect measure modification via likelihood ratio tests (LRT) for race/ethnicity for central nervous and external defect groups (LRT p values 0.08 and 0.02). We did observe modification by diabetes status for the cardiovascular group (LRT p value 0.08).

Conclusions

Our results from this analysis indicate that residential proximity to Pb brownfields is associated with cardiovascular birth defects with suggestive associations for central nervous and external defects. In-depth analyses of individual defects and other contaminants or brownfield site functions may reveal additional novel associations.

背景：棕地由废弃和闲置场地组成，其用途多种多样。对于许多美国人来说，棕地是一种不同类型但无处不在的暴露，其中可能含有危险废物，代表着城市的凋敝。新生儿和孕妇通常对微妙的环境暴露非常敏感。我们评估了居民接触铅（Pb）棕色地块是否与出生缺陷有关：利用北卡罗来纳州 2003 年至 2015 年的出生记录，我们对铅棕地 10 公里范围内的 169499 例新生儿进行了采样，发现其中有 3255 例心血管、中枢神经或外部缺陷。通过居住在含铅棕地 3 公里范围内的二元规范对接触情况进行分类。我们利用多变量逻辑回归模型，并根据出生记录和 2010 年人口普查提供的人口协变量进行调整，以估算赔率比 (OR) 和 95% 置信区间 (CI)。通过纳入交互项以及对种族/人种和糖尿病状况等潜在调节因素进行分层，对效应测量的修正进行了评估：我们观察到心血管出生缺陷与邻近棕色铅污染区居住地之间存在正相关，OR (95%CI)：1.15 (1.04, 1.26)，与中枢神经 1.16 (0.91, 1.47) 和外部缺陷 1.19 (0.88, 1.59) 存在提示性正相关。通过似然比检验（LRT），我们确实观察到种族/人种对中枢神经和外部缺陷组的效应测量有修饰作用（LRT p 值分别为 0.08 和 0.02）。我们确实观察到糖尿病状态对心血管组的影响（LRT p 值为 0.08）：我们的分析结果表明，居住地靠近含铅棕地与心血管出生缺陷有关，与中枢神经和外部缺陷也有提示性关联。对个别缺陷和其他污染物或棕地功能的深入分析可能会发现更多新的关联。

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引用次数: 0

Population-based prevalence of congenital defects in a routine sentinel site-based surveillance system in the Western Cape, South Africa 南非西开普省基于常规哨点监测系统的先天性缺陷流行率。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-08-08 DOI: 10.1002/bdr2.2388

Emma Kalk, Alexa Heekes, Diane Lavies, Lizel Jacobs, Careni Spencer, Alison Boutall, Ayesha Osman, Chantal Stewart, Mary-Ann Davies, Anika van Niekerk, Karen Fieggen, Andrew Boulle, Ushma Mehta

Background

Lack of data on the burden and scope of congenital disorders (CDs) in South Africa undermines resource allocation and limits the ability to detect signals from potentially teratogenic pregnancy exposures.

Methods

We used routine electronic data in the Western Cape Pregnancy Exposure Registry (PER) to determine the overall and individual prevalence of CD identified on neonatal surface examination at birth in the Western Cape, South Africa, 2016–2022. CD was confirmed by record review. The contribution of late (≤24 months) and antenatal diagnoses was assessed. We compared demographic and obstetric characteristics between women with/without pregnancies affected by CD.

Results

Women with a viable pregnancy (>22 weeks gestation; birth weight ≥ 500 g) (n = 32,494) were included. Of 1106 potential CD identified, 56.1% were confirmed on folder review. When internal and minor CD were excluded the prevalence of major CD identified on surface examination at birth was 7.2/1000 births. When missed/late diagnoses on examination (16.8%) and ultrasound (6.8%) were included, the prevalence was 9.2/1000 births: 8.9/1000 livebirths and 21.5/1000 stillbirths. The PER did not detect 21.5% of major CD visible at birth. Older maternal age and diabetes mellitus were associated with an increased prevalence of CD. Women living with/without HIV (or the timing of antiretroviral therapy, before/after conception), hypertension or obesity did not significantly affect prevalence of CD.

Conclusions

A surveillance system based on routine data successfully determined the prevalence of major CD identified on surface examination at birth at rates slightly higher than in equivalent studies. Overall rates, modeled at ~2%, are likely underestimated. Strengthening routine neonatal examination and clinical record-keeping could improve CD ascertainment.

背景：南非缺乏有关先天性疾病（CD）的负担和范围的数据，这有损于资源分配，并限制了检测潜在致畸妊娠暴露信号的能力：我们利用西开普省妊娠暴露登记处（PER）的常规电子数据，确定了 2016-2022 年南非西开普省出生时新生儿体表检查发现的先天性疾病的总体和个体患病率。CD通过记录审查得到确认。我们评估了晚期（≤24 个月）诊断和产前诊断的贡献。我们比较了受 CD 影响/未受 CD 影响的孕妇的人口和产科特征：结果：纳入了存活妊娠（妊娠期大于 22 周；出生体重≥ 500 克）的妇女（n = 32,494 人）。在确定的 1106 例潜在 CD 中，56.1% 经文件夹审查得到确认。排除内脏和轻微 CD 后，出生时体表检查发现的主要 CD 患病率为 7.2/1000。如果将检查（16.8%）和超声波检查（6.8%）的漏诊/迟诊计算在内，则发病率为 9.2/1000：8.9/1000 活产和 21.5/1000 死产。PER没有检测到21.5%的出生时可见的主要CD。高龄产妇和糖尿病与 CD 患病率增加有关。感染/未感染艾滋病毒的妇女（或接受抗逆转录病毒治疗的时间，受孕前/后）、高血压或肥胖对 CD 的患病率没有显著影响：基于常规数据的监测系统成功确定了出生时体表检查发现的主要 CD 患病率，其患病率略高于同等研究。根据模型计算的约 2% 的总体患病率很可能被低估了。加强新生儿常规检查和临床记录保存可提高 CD 的确定率。

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引用次数: 0

Orofacial clefts in Costa Rica, 1996–2021: Analysis of surveillance data 1996-2021 年哥斯达黎加的口腔颌面裂：监测数据分析。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-08-02 DOI: 10.1002/bdr2.2387

María de la Paz Barboza-Argüello, Adriana Benavides-Lara

Background

Orofacial clefts (OFCs) are among the most common birth defects (BD). In 2008, a series of improvements began in the Costa Rican Birth Defect Register Center (CREC). We aim to explore trends between 1996 and 2021.

Methods

A trend analysis of OFCs from 1996 to 2021 and a descriptive analysis of OFCs from 2010 to 2021 were performed based on data from the CREC, the national BD surveillance system. Prevalence at birth was calculated according to the type: cleft palate (CP), cleft lip with or without CP (CL ± P), and presentation (isolated, multiple non-syndromic, or syndromes). We used joinpoint regression to identify if a significant change in trend occurred; the average annual percent change (AAPC) was determined. Marginal means and prevalence ratios by subperiod (1996–2009 as referent and 2010–2021) were estimated using Poisson regression and compared using Wald's chi-square tests (α ≤.05).

Results

We found a significant AAPC for OFCs prevalence of +1.4: +0.6 for isolated, +2.9 for multiple non-syndromic, and +7.7 for syndromes (p < .05). When comparing the OFC's prevalence of the subperiod 2010–2021 (11.86 per 10,000) with 1996–2009 (9.36 per 10,000) the prevalence ratio was 1.3 (p < .01): 1.1 (p < .05) for isolated, 1.6 (p < .01) for multiple non-syndromic, and 3.3 (p < .01) for syndromes. The prevalence of OFCs from 2010 to 2021 was 9.1 for CL ± P and 2.8 for CP. Seventy-one percent of the OFCs were isolated, 22% multiple non-syndromic, and 7% syndromes.

Conclusion

The trend in OFCs' prevalence is toward increasing, mainly due to improvements in the surveillance system.

背景：口面裂（OFCs）是最常见的出生缺陷（BD）之一。2008 年，哥斯达黎加出生缺陷登记中心（CREC）开始进行一系列改进。我们旨在探讨 1996 年至 2021 年间的趋势：方法：根据国家 BD 监测系统 CREC 的数据，对 1996 年至 2021 年的 OFCs 进行了趋势分析，并对 2010 年至 2021 年的 OFCs 进行了描述性分析。出生时的患病率按以下类型计算：腭裂（CP）、唇裂伴或不伴CP（CL±P），以及表现形式（孤立、多发性非综合征或综合征）。我们使用连接点回归法来确定趋势是否发生了显著变化；确定了年均百分比变化 (AAPC)。我们使用泊松回归法估算了各子期（1996-2009 年为参照期，2010-2021 年为参照期）的边际均值和流行率，并使用沃尔德卡方检验（α ≤.05）进行了比较：结果：我们发现 AAPC 对 OFCs 患病率的显着影响为：+1.4：孤立型+0.6，多发性非综合征+2.9，综合征+7.7（p 结论：OFCs 的发病率呈明显的 AAPC+1.4：孤立型+0.6，多发性非综合征+2.9，综合征+7.7：OFC 发病率呈上升趋势，这主要归功于监测系统的改进。

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引用次数: 0

Measuring misclassification and sample bias in passive surveillance systems: Improving prevalence estimates of critical congenital heart defects in state-based passive surveillance systems 测量被动监测系统中的分类错误和样本偏差：改进以州为基础的被动监测系统中先天性心脏病患病率的估算。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-08-01 DOI: 10.1002/bdr2.2386

Chris Barnett, James Christiansen, Monica Mills, Jordyn Lord, Jared Parrish

Objectives

We assessed reporting misclassification for 12 critical congenital heart defects (CCHDs) identified through administrative diagnosis codes within a passive surveillance system. We measured the effect of misclassification on prevalence estimation. Lastly, we investigated a sample-based review strategy to estimate surveillance misclassification resulting from administrative diagnosis codes for case detection.

Methods

We received 419 reports of CCHDs between 2007 and 2018; 414 were clinically reviewed. We calculated confirmation probabilities to assess misclassification and adjust prevalence estimates. Random samples of reported cases were taken at proportions between 20% and 90% for each condition to assess sample bias. Sampling was repeated 1000 times to measure sample-estimate variability.

Results

Misclassification ranged from a low of 19% (n = 4/21) to a high of 84% (n = 21/25). Unconfirmed prevalence rates ranged between one and six cases per 10,000 live births, with some conditions significantly higher than national estimates. However, confirmed rates were either lower or comparable to national estimates.

Conclusion

Passive birth defect surveillance programs that rely on administrative diagnosis codes for case identification of CCHDs are subject to misclassification that bias prevalence estimates. We showed that a sample-based review could improve the prevalence estimates of 12 cardiovascular conditions relative to their unconfirmed prevalence rates.

目的：我们评估了被动监测系统中通过行政诊断代码确定的 12 种严重先天性心脏缺陷 (CCHD) 的报告分类错误。我们测量了错误分类对患病率估算的影响。最后，我们研究了一种基于样本的审查策略，以估计行政诊断代码在病例检测中导致的监测分类错误：2007 年至 2018 年间，我们收到了 419 份儿童疾病报告；其中 414 份进行了临床审查。我们计算了确认概率，以评估误分类并调整患病率估计值。对报告病例进行随机抽样，每种情况的抽样比例介于 20% 和 90% 之间，以评估样本偏差。重复抽样 1000 次，以测量样本估计值的变异性：分类错误率最低为 19%（n = 4/21），最高为 84%（n = 21/25）。未经证实的患病率介于每 10,000 例活产中 1 例到 6 例之间，其中一些病例明显高于全国估计值。然而，确诊率要么较低，要么与全国估计值相当：结论：被动式出生缺陷监测项目依赖于行政诊断代码来识别儿童慢性疾病病例，可能会造成分类错误，从而使患病率估计值出现偏差。我们的研究表明，与未经证实的患病率相比，基于样本的审查可以提高 12 种心血管疾病的患病率估计值。

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引用次数: 0

DNA methylation of the Lamin A/C gene is associated with congenital heart disease Lamin A/C 基因的 DNA 甲基化与先天性心脏病有关。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-07-28 DOI: 10.1002/bdr2.2381

Nandini Mukherjee, Elijah H. Bolin, Amna Qasim, Mohammed S. Orloff, Philip J. Lupo, Wendy N. Nembhard

Background

Prior studies report associations of maternal serum Lamin A, encoded by the LMNA gene, with fetal congenital heart disease (CHD). It is unknown whether DNA methylation (DNAm) of cytosine-phosphate-guanine (CpG) sites in LMNA impacts the CHD susceptibility.

Methods

We investigated the associations of LMNA DNAm with CHD using publicly available data of CHD cases (n = 197) and controls (n = 134) from the Gene Expression Omnibus repository. Peripheral blood DNAm was measured using Illumina 850 K BeadChip for cases and 450 K BeadChip for controls. We tested 31 LMNA CpGs to identify differences in DNAm between cases and controls using linear regression correcting for multiple testing with false discovery rate (FDR). In a case-only analysis, we tested the variations in LMNA DNAm between CHD subtypes. To identify the consistency of DNAm across tissue types we compared peripheral blood (n = 197) and heart tissue DNAm (n = 20) in CHD cases.

Results

After adjusting for age, sex, and cell types there were significant differences in 17 of the 31 LMNA CpGs between CHD cases and controls (FDR p ≤ .05). We identified lower DNAm of cg09820673 at 3′ UTR for hypoplastic left heart syndrome compared to other CHD subtypes. Three CpGs exhibited uniform DNAm in blood and heart tissues in cases. Eleven CpGs showed changes in the same direction in blood and heart tissues in cases compared to controls.

Conclusion

We identify statistically significant differences in LMNA DNAm between CHD cases and controls. Future studies should investigate the role of maternal LMNA DNAm in CHD development.

背景：先前的研究报告称，由 LMNA 基因编码的母体血清 Lamin A 与胎儿先天性心脏病（CHD）有关。目前还不清楚 LMNA 中胞嘧啶-磷酸鸟嘌呤（CpG）位点的 DNA 甲基化（DNAm）是否会影响先天性心脏病的易感性：我们利用基因表达总库（Gene Expression Omnibus）中公开的 CHD 病例（197 例）和对照组（134 例）数据，研究了 LMNA DNAm 与 CHD 的关系。使用 Illumina 850 K BeadChip 测量病例的外周血 DNAm，使用 450 K BeadChip 测量对照组的外周血 DNAm。我们检测了 31 个 LMNA CpGs，利用线性回归校正多重检测的错误发现率 (FDR)，确定病例和对照组之间 DNAm 的差异。在一项只针对病例的分析中，我们检测了不同 CHD 亚型之间 LMNA DNAm 的差异。为了确定不同组织类型DNAm的一致性，我们比较了CHD病例的外周血（n = 197）和心脏组织DNAm（n = 20）：结果：在对年龄、性别和细胞类型进行调整后，CHD 病例和对照组在 31 个 LMNA CpGs 中的 17 个存在显著差异（FDR p ≤ .05）。与其他 CHD 亚型相比，我们发现左心发育不全综合征 3' UTR 的 cg09820673 DNAm 较低。有三个 CpGs 在病例的血液和心脏组织中显示出一致的 DNAm。与对照组相比，病例的血液和心脏组织中有 11 个 CpGs 显示出相同方向的变化：结论：我们发现 CHD 病例和对照组的 LMNA DNAm 存在明显的统计学差异。今后的研究应探讨母体 LMNA DNAm 在 CHD 发病中的作用。

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引用次数: 0

Moderate altitude as a risk factor for isolated congenital malformations. Results from a case–control multicenter–multiregional study 适度的海拔高度是导致孤立性先天畸形的风险因素。一项多中心多地区病例对照研究的结果。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-07-26 DOI: 10.1002/bdr2.2335

Blanca Rebeca Ibarra-Ibarra, Leonora Luna-Muñoz, Osvaldo M. Mutchinick, Jazmín Arteaga-Vázquez

Background

Living in high-altitude regions has been associated with a higher prevalence of some birth defects. Moderate altitudes (1500–2500 m) have been associated with some congenital heart diseases and low birth weight. However, no studies have been conducted for other isolated congenital malformations.

Objectives

To estimate the prevalence at birth of isolated congenital malformations in low and moderate altitudes and to determine if moderate altitudes are a risk factor, such as high altitudes, for isolated congenital malformations adjusted for other factors.

Methods

The study consisted of a case–control multicenter-multiregional study of 13 isolated congenital malformations. Cases included live births with isolated congenital malformations and controls at low (10–1433 m) and moderate altitudes (1511–2426 m) from a Mexican registry from January 1978 to December 2019. Prevalence per 10,000 (95% CI) per altitude group was estimated. We performed unadjusted and adjusted logistic regression models (adjusted for maternal age, parity, malformed relatives, socioeconomic level, and maternal diabetes) for each isolated congenital malformation.

Results

Hydrocephaly and microtia had a higher at-birth prevalence, and spina bifida, preauricular tag, and gastroschisis showed a lower at-birth prevalence in moderate altitudes. Moderate altitudes were a risk factor for hydrocephaly (aOR 1.39), microtia (aOR 1.60), cleft-lip-palate (aOR 1.27), and polydactyly (aOR 1.32) and a protective effect for spina bifida (aOR 0.87) compared with low altitudes.

Conclusions

Our findings provide evidence that moderate altitudes as higher altitudes are an associated risk or protective factor to some isolated congenital malformations, suggesting a possible gradient effect.

背景：生活在高海拔地区与某些出生缺陷的高发病率有关。中等海拔地区（1500-2500 米）与一些先天性心脏病和出生体重不足有关。然而，目前还没有针对其他孤立性先天畸形的研究：目的：估算低海拔和中海拔地区出生时孤立性先天畸形的发病率，并确定中海拔地区是否与高海拔地区一样，在调整其他因素后成为孤立性先天畸形的风险因素：研究包括对 13 例孤立性先天畸形的多中心、多地区病例对照研究。病例包括1978年1月至2019年12月期间墨西哥登记的低海拔（10-1433米）和中海拔（1511-2426米）地区患有孤立性先天畸形的活产婴儿和对照组。我们估算了每个海拔组每 10,000 人中的患病率（95% CI）。我们针对每种孤立的先天性畸形建立了未调整和调整后的逻辑回归模型（调整了产妇年龄、胎次、畸形亲属、社会经济水平和产妇糖尿病）：在中等海拔地区，水头畸形和小耳畸形的出生率较高，脊柱裂、耳前畸形和胃畸形的出生率较低。与低海拔地区相比，中等海拔地区是颅内积水（aOR 1.39）、小耳症（aOR 1.60）、唇腭裂（aOR 1.27）和多指畸形（aOR 1.32）的风险因素，而对脊柱裂（aOR 0.87）具有保护作用：我们的研究结果提供了证据，证明中等海拔和较高海拔地区是某些孤立先天畸形的相关风险或保护因素，这表明可能存在梯度效应。

{"title":"Moderate altitude as a risk factor for isolated congenital malformations. Results from a case–control multicenter–multiregional study","authors":"Blanca Rebeca Ibarra-Ibarra, Leonora Luna-Muñoz, Osvaldo M. Mutchinick, Jazmín Arteaga-Vázquez","doi":"10.1002/bdr2.2335","DOIUrl":"10.1002/bdr2.2335","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Living in high-altitude regions has been associated with a higher prevalence of some birth defects. Moderate altitudes (1500–2500 m) have been associated with some congenital heart diseases and low birth weight. However, no studies have been conducted for other isolated congenital malformations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To estimate the prevalence at birth of isolated congenital malformations in low and moderate altitudes and to determine if moderate altitudes are a risk factor, such as high altitudes, for isolated congenital malformations adjusted for other factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study consisted of a case–control multicenter-multiregional study of 13 isolated congenital malformations. Cases included live births with isolated congenital malformations and controls at low (10–1433 m) and moderate altitudes (1511–2426 m) from a Mexican registry from January 1978 to December 2019. Prevalence per 10,000 (95% CI) per altitude group was estimated. We performed unadjusted and adjusted logistic regression models (adjusted for maternal age, parity, malformed relatives, socioeconomic level, and maternal diabetes) for each isolated congenital malformation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Hydrocephaly and microtia had a higher at-birth prevalence, and spina bifida, preauricular tag, and gastroschisis showed a lower at-birth prevalence in moderate altitudes. Moderate altitudes were a risk factor for hydrocephaly (aOR 1.39), microtia (aOR 1.60), cleft-lip-palate (aOR 1.27), and polydactyly (aOR 1.32) and a protective effect for spina bifida (aOR 0.87) compared with low altitudes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings provide evidence that moderate altitudes as higher altitudes are an associated risk or protective factor to some isolated congenital malformations, suggesting a possible gradient effect.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757139","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

A case of Williams syndrome with Wolff–Parkinson–White syndrome 一例威廉姆斯综合征并发沃尔夫-帕金森-怀特综合征的病例。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-07-18 DOI: 10.1002/bdr2.2385

Cem Karadeniz, Kaan Yıldız, Sedef Öksüz, Rüveyda Nur Keçici, Özgür Çoğulu

Introduction

Williams syndrome (WS) cases have been reported to have with 25–100 times greater increased risk of sudden cardiac death (SCD). SCD has been reported in cases without any evidence of structural cardiovascular anomalies. Wolff–Parkinson–White (WPW) syndrome is characterized by short PR interval and delta wave. Ventricular preexcitations can develop paroxysmal reentrant tachycardia through Kent bundle or less frequent atrial fibrillation and in some cases with accessory pathway effective refractory period (APERP) under 250 ms considered as risky and may lead to SCD. WS associated with WPW has not been reported before.

Case Report

An 11-year-old male who had been followed up with WS was referred to pediatric cardiology outpatient clinic with the complaint of palpitation. Electrocardiographic examination showed short PR interval and delta wave in the ECG consistent with WPW. He underwent electrophysiological study (EPS). Basic measurements were performed, and APERP was found at 280 ms cycle atrial pacing. RF energy was delivered using a 4 mm tip nonirrigated radiofrequency (RF) ablation catheter where the best ventriculoatrial (VA) signals were received and the AP was abolished within few seconds.

Discussion and Conclusions

Although, WPW cases are usually asymptomatic or related to SVT, the risk of SCD should not be ignored. Thus, all patients with WPW deserve an EPS for assessing the AP conduction properties. Due to the increased risk of SCD in patients with WS compared to general population, in the presence of concomitant WPW, these patients should be evaluated with EPS even if they do not have symptoms.

导言：据报道，威廉姆斯综合征（WS）病例发生心脏性猝死（SCD）的风险增加了 25-100 倍。在没有任何心血管结构异常证据的病例中，也有 SCD 的报道。沃尔夫-帕金森-怀特（WPW）综合征的特点是 PR 间期短和三角波。室性期前收缩可通过肯特束发展为阵发性再发性心动过速，或较少发生心房颤动，在某些病例中，辅助通路有效折返期（APERP）低于 250 毫秒被认为是危险的，可能导致 SCD。与 WPW 相关的 WS 以前从未报道过：一名曾接受过 WS 随访的 11 岁男性因心悸主诉被转诊至儿童心脏病学门诊。心电图检查显示 PR 间期短，心电图出现三角波，与 WPW 一致。他接受了电生理检查（EPS）。进行了基本测量，发现在 280 毫秒周期心房起搏时存在 APERP。使用 4 毫米尖端非灌注射频（RF）消融导管释放射频能量，在该导管上接收到最佳心室-心房（VA）信号，AP 在数秒内消失：尽管WPW病例通常无症状或与SVT有关，但SCD的风险不容忽视。因此，所有 WPW 患者都应接受 EPS 检查以评估 AP 传导特性。由于与普通人群相比，WS 患者发生 SCD 的风险更高，因此，即使这些患者没有症状，也应进行 EPS 评估。

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引用次数: 0

Natural history study of Pseudoachondroplasia: A focus on oral health 假性软骨发育不良的自然史研究：关注口腔健康。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-07-17 DOI: 10.1002/bdr2.2378

Omkar Patel, S. Shahrukh Hashmi, Brett Chiquet, Jacqueline T. Hecht

Background

Pseudoachondroplasia (PSACH) is a rare dwarfing condition characterized by short limbs and fingers, and multiple skeletal abnormalities/complications. There are few natural history studies delineating the medical problems in PSACH leaving a gap in many areas, especially oral health. Our study aimed to obtain information pertaining to oral health and other health-related problems (pregnancy and childbirth, skeletal health, joint pain) in patients with PSACH.

Methods

To ascertain this information, an online Qualtrics survey was distributed to members of Little People of America, a support group, and through a PSACH online chatroom.

Results

Ninety-nine of 115 surveys were completed and included in the descriptive and multivariable analyses. PSACH individuals regularly sought dental care, but flossing was challenging because of short fingers. Untreated carries (5%), bleeding gums (16%) malocclusion (37%), obstructive sleep apnea (9%), and TMJ disorder (3%) occurred less frequently compared to the general population. Delivery was by Caesarean section in 100% of female respondents who delivered a baby. Bowlegs (74%), scoliosis (43%) and osteoarthritis (36%) were the most common skeletal complications. Joint pain was reported by 85% of respondents.

Conclusions

This study provides novel insights into oral health, pregnancy and childbirth while confirming previously identified skeletal complications in PSACH. Our findings suggest that oral healthcare in PSACH presents unique challenges.

背景：假性软骨发育不良（PSACH）是一种罕见的侏儒症，以四肢和手指短小、多种骨骼异常/并发症为特征。有关假性软骨发育不全（PSACH）患者医疗问题的自然史研究很少，这在许多领域，尤其是口腔健康方面留下了空白。我们的研究旨在获取 PSACH 患者口腔健康和其他健康相关问题（怀孕和分娩、骨骼健康、关节疼痛）的相关信息：为了确定这些信息，我们向 "美国小伙伴"（一个互助小组）的成员分发了一份在线Qualtrics调查问卷，并通过PSACH在线聊天室进行了调查：结果：115 份调查中有 99 份完成，并纳入了描述性分析和多变量分析。PSACH患者经常寻求牙科治疗，但由于手指短，使用牙线很困难。与普通人群相比，龋齿（5%）、牙龈出血（16%）、咬合不正（37%）、阻塞性睡眠呼吸暂停（9%）和颞下颌关节紊乱（3%）的发生率较低。在分娩的女性受访者中，100% 的人都是通过剖腹产分娩的。弓形腿（74%）、脊柱侧弯（43%）和骨关节炎（36%）是最常见的骨骼并发症。85%的受访者报告了关节疼痛：这项研究为口腔健康、怀孕和分娩提供了新的视角，同时证实了之前在 PSACH 中发现的骨骼并发症。我们的研究结果表明，PSACH 患者的口腔保健面临着独特的挑战。

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引用次数: 0