Birth defects research. Part A, Clinical and molecular teratology最新文献_第10页

Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis 阿根廷血吸虫病:患病率、地理集群和时间趋势分析

Q Medicine

Birth defects research. Part A, Clinical and molecular teratology

Pub Date : 2016-04-08 DOI: 10.1002/bdra.23501

Boris Groisman, Rosa Liascovich, Juan Antonio Gili, Pablo Barbero, María Paz Bidondo, the RENAC Task Force

Background

Sirenomelia is a severe malformation of the lower body characterized by a single medial lower limb and a variable combination of visceral abnormalities. Given that Sirenomelia is a very rare birth defect, epidemiological studies are scarce. The aim of this study is to evaluate prevalence, geographic clusters and time trends of sirenomelia in Argentina, using data from the National Network of Congenital Anomalies of Argentina (RENAC) from November 2009 until December 2014.

Methods

This is a descriptive study using data from the RENAC, a hospital-based surveillance system for newborns affected with major morphological congenital anomalies. We calculated sirenomelia prevalence throughout the period, searched for geographical clusters, and evaluated time trends.

Results

The prevalence of confirmed cases of sirenomelia throughout the period was 2.35 per 100,000 births. Cluster analysis showed no statistically significant geographical aggregates. Time-trends analysis showed that the prevalence was higher in years 2009 to 2010.

Conclusion

The observed prevalence was higher than the observed in previous epidemiological studies in other geographic regions. We observed a likely real increase in the initial period of our study. We used strict diagnostic criteria, excluding cases that only had clinical diagnosis of sirenomelia. Therefore, real prevalence could be even higher. This study did not show any geographic clusters. Because etiology of sirenomelia has not yet been established, studies of epidemiological features of this defect may contribute to define its causes. Birth Defects Research (Part A) 106:604–611, 2016. © 2016 Wiley Periodicals, Inc.

背景:足窦畸形是一种严重的下体畸形，其特征是单个下肢内侧和内脏异常的可变组合。鉴于先天性贫血是一种非常罕见的出生缺陷，流行病学研究很少。本研究的目的是利用阿根廷国家先天性异常网络(RENAC) 2009年11月至2014年12月的数据，评估阿根廷胎儿先天性畸形的患病率、地理集群和时间趋势。方法:这是一项描述性研究，使用RENAC的数据，RENAC是一种基于医院的新生儿形态学先天性异常监测系统。我们计算了整个时期的梅毒患病率，搜索了地理集群，并评估了时间趋势。结果调查期间确诊病例为2.35例/ 10万例。聚类分析未发现统计学上显著的地理聚集。时间趋势分析显示，2009 - 2010年患病率较高。结论该地区的流行病学调查结果高于其他地区。我们观察到，在我们研究的最初阶段，这种情况可能确实有所增加。我们采用了严格的诊断标准，排除了只有临床诊断为鼻塞的病例。因此，实际患病率可能更高。这项研究没有显示任何地理集群。由于该病的病因尚未确定，对该病流行病学特征的研究可能有助于确定该病的病因。出生缺陷研究(A辑)(06):604 - 611,2016。©2016 Wiley期刊公司

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引用次数: 4

Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case–control study 涉及特定先天性肾脏和尿路异常的产妇危险因素:一项病例对照研究

Q Medicine

Birth defects research. Part A, Clinical and molecular teratology

Pub Date : 2016-04-04 DOI: 10.1002/bdra.23500

Sander Groen in 't Woud, Kirsten Y. Renkema, Michiel F. Schreuder, Charlotte H.W. Wijers, Loes F.M. van der Zanden, Nine V.A.M. Knoers, Wout F.J. Feitz, Ernie M.H.F. Bongers, Nel Roeleveld, Iris A.L.M. van Rooij

BACKGROUND

Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous group of birth defects with a variety of genetic and nongenetic factors suspected of involvement in the etiology. However, little is known about risk factors in specific CAKUT phenotypes. Therefore, we studied potential maternal risk factors in individual phenotypes within the CAKUT spectrum.

METHODS

Questionnaire data were collected from parents of 562 children with CAKUT and 2139 healthy controls within the AGORA data- and biobank. Potential maternal risk factors investigated included folic acid use, overweight and obesity, smoking, alcohol consumption, subfertility, and diabetes mellitus. We performed logistic regression analyses to assess associations between these potential risk factors and CAKUT phenotypes.

RESULTS

Increased risks of CAKUT were observed for folic acid use and maternal obesity, while fertility treatment by in vitro fertilization or intrauterine insemination and diabetes diagnosed during pregnancy also seem to be associated with CAKUT. Use of multivitamins reduced the risk (odds ratio [OR], 0.5; 95% confidence interval [CI], 0.2–1.0) as opposed to use of folic acid supplements only (OR, 1.3; 95% CI, 1.0–1.8). Folic acid use was associated with duplex collecting systems (OR, 1.8; 95% CI, 1.0–3.4) and vesicoureteral reflux (OR, 1.8; 95% CI, 1.1–2.9) in particular. A relatively strong association was observed between diabetes during pregnancy and posterior urethral valves (OR, 2.6; 95% CI, 1.1–5.9).

CONCLUSION

Use of folic acid only seems to be counterproductive for prevention of CAKUT, in contrast to multivitamin use. Furthermore, we observed differences in risk factor patterns among CAKUT phenotypes, which stress the importance of separate analyses for each phenotype. Birth Defects Research (Part A) 106:596–603, 2016. © 2016 Wiley Periodicals, Inc.

背景:先天性肾和尿路异常(先天性肾和尿路异常)包括一组异质性的先天缺陷，有多种遗传和非遗传因素被怀疑参与病因学。然而，对特定CAKUT表型的危险因素知之甚少。因此，我们研究了CAKUT谱系中个体表型的潜在母亲危险因素。方法从AGORA数据和生物库中收集562名CAKUT儿童的父母和2139名健康对照者的问卷数据。调查的潜在产妇危险因素包括叶酸使用、超重和肥胖、吸烟、饮酒、生育能力低下和糖尿病。我们进行了逻辑回归分析，以评估这些潜在危险因素与CAKUT表型之间的关联。结果:叶酸的使用和母亲肥胖增加了CAKUT的风险，而体外受精或宫内人工授精的生育治疗和妊娠期间诊断的糖尿病似乎也与CAKUT有关。使用多种维生素可降低风险(优势比[OR]， 0.5;95%可信区间[CI]， 0.2-1.0)与仅使用叶酸补充剂(OR, 1.3;95% ci, 1.0-1.8)。叶酸的使用与双收集系统有关(OR, 1.8;95% CI, 1.0-3.4)和膀胱输尿管反流(OR, 1.8;95% CI, 1.1-2.9)。妊娠期糖尿病与后尿道瓣膜有较强的相关性(OR, 2.6;95% ci, 1.1-5.9)。结论与使用多种维生素相比，使用叶酸似乎只对预防CAKUT起反作用。此外，我们观察到不同的CAKUT表型之间的风险因素模式的差异，这强调了对每种表型进行单独分析的重要性。出生缺陷研究(A辑)106:596-603,2016。©2016 Wiley期刊公司

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引用次数: 58

Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study. 涉及特定先天性肾脏和尿路异常的产妇危险因素:一项病例对照研究。

Q Medicine

Birth defects research. Part A, Clinical and molecular teratology

Pub Date : 2016-04-04 DOI: 10.1002/bdra.23500

Sander Groen in 't Woud, K. Renkema, M. Schreuder, C. Wijers, Loes F. M. van der Zanden, N. Knoers, W. Feitz, E. Bongers, N. Roeleveld, I. V. van Rooij

BACKGROUNDCongenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous group of birth defects with a variety of genetic and nongenetic factors suspected of involvement in the etiology. However, little is known about risk factors in specific CAKUT phenotypes. Therefore, we studied potential maternal risk factors in individual phenotypes within the CAKUT spectrum.METHODSQuestionnaire data were collected from parents of 562 children with CAKUT and 2139 healthy controls within the AGORA data- and biobank. Potential maternal risk factors investigated included folic acid use, overweight and obesity, smoking, alcohol consumption, subfertility, and diabetes mellitus. We performed logistic regression analyses to assess associations between these potential risk factors and CAKUT phenotypes.RESULTSIncreased risks of CAKUT were observed for folic acid use and maternal obesity, while fertility treatment by in vitro fertilization or intrauterine insemination and diabetes diagnosed during pregnancy also seem to be associated with CAKUT. Use of multivitamins reduced the risk (odds ratio [OR], 0.5; 95% confidence interval [CI], 0.2-1.0) as opposed to use of folic acid supplements only (OR, 1.3; 95% CI, 1.0-1.8). Folic acid use was associated with duplex collecting systems (OR, 1.8; 95% CI, 1.0-3.4) and vesicoureteral reflux (OR, 1.8; 95% CI, 1.1-2.9) in particular. A relatively strong association was observed between diabetes during pregnancy and posterior urethral valves (OR, 2.6; 95% CI, 1.1-5.9).CONCLUSIONUse of folic acid only seems to be counterproductive for prevention of CAKUT, in contrast to multivitamin use. Furthermore, we observed differences in risk factor patterns among CAKUT phenotypes, which stress the importance of separate analyses for each phenotype. Birth Defects Research (Part A) 106:596-603, 2016. © 2016 Wiley Periodicals, Inc.

背景:先天性肾和尿路异常(先天性肾和尿路异常)是一组异质性的先天缺陷，有多种遗传和非遗传因素被怀疑与病因有关。然而，对特定CAKUT表型的危险因素知之甚少。因此，我们研究了CAKUT谱系中个体表型的潜在母亲危险因素。方法从AGORA数据和生物库中收集562名CAKUT儿童的父母和2139名健康对照者的问卷数据。调查的潜在产妇危险因素包括叶酸使用、超重和肥胖、吸烟、饮酒、生育能力低下和糖尿病。我们进行了逻辑回归分析，以评估这些潜在危险因素与CAKUT表型之间的关联。结果叶酸的使用和母亲肥胖增加了CAKUT的风险，而体外受精或宫内人工授精的生育治疗和妊娠期间诊断的糖尿病似乎也与CAKUT有关。使用多种维生素可降低风险(优势比[OR]， 0.5;95%可信区间[CI]， 0.2-1.0)与仅使用叶酸补充剂(OR, 1.3;95% ci, 1.0-1.8)。叶酸的使用与双收集系统有关(OR, 1.8;95% CI, 1.0-3.4)和膀胱输尿管反流(OR, 1.8;95% CI, 1.1-2.9)。妊娠期糖尿病与后尿道瓣膜有较强的相关性(OR, 2.6;95% ci, 1.1-5.9)。结论与使用多种维生素相比，使用叶酸似乎只对预防CAKUT起反作用。此外，我们观察到不同的CAKUT表型之间的风险因素模式的差异，这强调了对每种表型进行单独分析的重要性。出生缺陷研究(A辑)106:596-603,2016。©2016 Wiley期刊公司

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引用次数: 57

Red Blood Cell Folate Insufficiency among nonpregnant Women of Childbearing age in Guatemala 2009 to 2010: Prevalence and predicted Neural Tube Defects risk 2009年至2010年危地马拉非怀孕育龄妇女红细胞叶酸不足:患病率和预测神经管缺陷风险

Q Medicine

Birth defects research. Part A, Clinical and molecular teratology

Pub Date : 2016-03-24 DOI: 10.1002/bdra.23499

Jorge Rosenthal, Mary-Elizabeth Reeve, Nicte Ramirez, Krista S. Crider, Joe Sniezek, Claudia Vellozzi, Owen Devine, Eunice Lopez-Pazos

Background

The World Health Organization recently released recommendations stating that red blood cell (RBC) folate concentrations should be above 400 ng/L (906 nmol/L) for optimal prevention of folate-sensitive neural tube defects (NTDs). The objective of this study was to determine the distribution of folate insufficiency (FI) (<906 nmol/L) and potential risk of NTDs based on RBC folate concentrations among nonpregnant women of child-bearing age in Guatemala.

Methods

A national and regional multistage cluster probability survey was completed during 2009 to 2010 among Guatemalan women of child-bearing age 15 to 49 years of age. Demographic and health information and blood samples for RBC folate analyses were collected from 1473 women. Prevalence rate ratios of FI and predicted NTD prevalence were estimated based on RBC folate concentrations comparing subpopulations of interest.

Results

National FI prevalence was 47.2% [95% confidence interval, 43.3–51.1] and showed wide variation by region (18–81%). In all regions, FI prevalence was higher among indigenous (27–89%) than among nonindigenous populations (16–44%). National NTD risk based on RBC folate concentrations was estimated to be 14 per 10,000 live births (95% uncertainty interval, 11.1–18.6) and showed wide regional variation (from 11 NTDS in the Metropolitan region to 26 NTDs per 10,000 live births in the Norte region).

Conclusion

FI remains a common problem in populations with limited access to fortified products, specifically rural, low income, and indigenous populations. However, among subpopulations that are most likely to have fortified food, the prevalence of FI is similar to countries with well-established fortification programs. Birth Defects Research (Part A) 106:587–595, 2016. © 2016 Wiley Periodicals, Inc.

世界卫生组织最近发布的建议指出，红细胞(RBC)叶酸浓度应高于400 ng/L (906 nmol/L)，以最佳预防叶酸敏感性神经管缺陷(NTDs)。本研究的目的是确定叶酸不足(FI)的分布(<906 nmol/L)和潜在的风险，基于红细胞叶酸浓度在非怀孕的育龄妇女在危地马拉。方法对2009 ~ 2010年危地马拉15 ~ 49岁育龄妇女进行全国和地区多阶段聚类概率调查。收集了1473名妇女的人口统计和健康信息以及红细胞叶酸分析的血液样本。FI患病率比和预测NTD患病率是根据RBC叶酸浓度比较感兴趣的亚群来估计的。结果全国FI患病率为47.2%[95%可信区间43.3-51.1]，地区差异较大(18-81%)。在所有地区，土著人群的FI患病率(27-89%)高于非土著人群(16-44%)。基于红细胞叶酸浓度的全国NTD风险估计为每10,000活产14例(95%不确定区间，11.1-18.6)，并显示出广泛的区域差异(从大都市地区的11例NTD到北部地区的26例NTD)。结论:在获得强化食品的机会有限的人群中，尤其是农村、低收入和土著人群中，FI仍然是一个常见问题。然而，在最有可能食用强化食品的亚人群中，FI的患病率与具有完善强化计划的国家相似。出生缺陷研究(分册)(6):587 - 595,2016。©2016 Wiley期刊公司

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引用次数: 17

Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population 中国汉族人群叶酸介导的单碳代谢与神经管缺陷相关基因多态性分析

Q Medicine

Birth defects research. Part A, Clinical and molecular teratology

Pub Date : 2016-03-22 DOI: 10.1002/bdra.23478

Wei Piao, Jin Guo, Yihua Bao, Fang Wang, Ting Zhang, Junsheng Huo, Kunlin Zhang

Background

The polymorphism of genes involved in folate-mediated one-carbon metabolism may be a risk factor for neural tube defects (NTDs). In the present study, we aimed to investigate the single nucleotide polymorphisms (SNPs) of the genes BHMT, CUBN, FTCD, GAMT, GART, SARDH, SHMT1, and MUT, and their effect on NTDs in the Chinese Han population.

Methods

A total of 270 NTDs cases and 192 controls were enrolled in this study. The SNPs were analyzed with the next-generation sequencing method. The folate levels of brain tissues from 113 available NTDs cases and 123 available controls were measured.

Results

Next-generation sequencing identified 818 single nucleotide variants, including 214 SNPs used for further analysis. Statistical analysis showed that two independent SNP loci, rs2797840 and rs2073817 in SARDH, may be associated with the susceptibility of NTDs. Specifically, the minor allele G of rs2797840 was significantly associated with NTDs risk in spina bifida subgroup (p value = 0.0348). For subjects whose folate content was measured, the protective allele G of rs2797840 was significantly associated with increased folate content of brain. rs2797840 is within several ENCODE regulatory regions, indicating this SNPs may influence expression of SARDH.

Conclusion

The SNPs rs2797840 and rs2073817 in SARDH may serve as an indicator for the occurrence of NTDs in the Chinese Han population, and rs2797840 may also be an indicator for folate content of brain. Birth Defects Research (Part A) 106:232–239, 2016. © 2016 Wiley Periodicals, Inc.

叶酸介导的单碳代谢相关基因多态性可能是神经管缺陷(NTDs)的危险因素。本研究旨在研究中国汉族人群中BHMT、CUBN、FTCD、GAMT、GART、SARDH、SHMT1和MUT基因的单核苷酸多态性(snp)及其对NTDs的影响。方法选取热带病270例，对照组192例。采用新一代测序方法分析snp。测量了113例可用NTDs病例和123例可用对照的脑组织叶酸水平。结果新一代测序鉴定出818个单核苷酸变异，其中214个snp用于进一步分析。统计分析表明，SARDH中两个独立的SNP位点rs2797840和rs2073817可能与NTDs的易感性有关。其中，rs2797840小等位基因G与脊柱裂亚组NTDs风险显著相关(p值= 0.0348)。测量叶酸含量的受试者中，rs2797840的保护性等位基因G与脑组织叶酸含量的增加显著相关。rs2797840位于多个ENCODE调控区域，表明该snp可能影响SARDH的表达。结论SARDH snp rs2797840和rs2073817可能是中国汉族人群NTDs发生的一个指标，rs2797840也可能是脑叶酸含量的一个指标。出生缺陷研究(A辑)106:232-239,2016。©2016 Wiley期刊公司

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引用次数: 7

Maternal exposure to radiographic exams and major structural birth defects 产妇暴露于x线检查和主要结构性出生缺陷

Q Medicine

Birth defects research. Part A, Clinical and molecular teratology

Pub Date : 2016-03-22 DOI: 10.1002/bdra.23496

Hyeyeun Lim, Charles W. Beasley, Lawrence W. Whitehead, Robert J. Emery, A.J. Agopian, Peter H. Langlois, Dorothy K. Waller, the National Birth Defects Prevention Study

Background

An increasing number of radiologic exams are performed in the United States, but very few studies have examined the effects of maternal exposure to radiologic exams during the periconceptional period and birth defects.

Objectives

To assess the association between maternal exposure to radiologic exams during the periconceptional period and 19 categories of birth defects using a large population-based study of birth defects.

Methods

We studied 27,809 case mothers and 10,200 control mothers who participated in the National Birth Defects Prevention Study and delivered between 1997 and 2009. Maternal exposure to radiologic exams that delivered ionizing radiation to the urinary tract, lumbar spine, abdomen, or pelvis were identified based on the mother's report of type of radiologic exams, organ or body part scanned and the month during which the exam occurred

Results

Overall, 0.9% of mothers reported exposure to one of these types of radiographic exams during the periconceptional period. We observed significant associations between maternal exposure during the first trimester and isolated Dandy-Walker malformation (odds ratio = 7.7; 95% confidence interval, 1.8–33) and isolated d-transposition of the great arteries (odds ratio = 3.8; 95% confidence interval, 1.4–10.3). However, the result for isolated Dandy-Walker malformation was based on only two exposed cases.

Conclusion

These results should be interpreted cautiously because multiple statistical tests were conducted and measurements of exposure were based on maternal report. However, our results may be useful for generating hypotheses for future studies. Birth Defects Research (Part A) 106:563–572, 2016. © 2016 Wiley Periodicals, Inc.

背景:在美国，越来越多的人进行放射检查，但很少有研究调查了母体在围孕期接受放射检查和出生缺陷的影响。目的通过对出生缺陷的大规模人群研究，评估围孕期产妇接受放射检查与19种出生缺陷之间的关系。方法对1997年至2009年间参加国家出生缺陷预防研究的27,809名病例母亲和10,200名对照母亲进行研究。根据母亲报告的放射检查类型、扫描的器官或身体部位以及检查发生的月份，确定母亲接受过向泌尿道、腰椎、腹部或骨盆释放电离辐射的放射检查。结果总体而言，0.9%的母亲报告在围孕期接受过这些类型的放射检查之一。我们观察到孕早期母体暴露与孤立性Dandy-Walker畸形之间存在显著关联(优势比= 7.7;95%可信区间，1.8-33)和孤立性大动脉d转位(优势比= 3.8;95%置信区间为1.4-10.3)。然而，孤立的Dandy-Walker畸形的结果仅基于两个暴露病例。结论本研究结果经多次统计检验，暴露量测量依据产妇报告，应谨慎解释。然而，我们的结果可能对未来的研究产生假设有用。出生缺陷研究(分册)(6):563 - 572,2016。©2016 Wiley期刊公司

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引用次数: 6

Limitations, depressive symptoms, and quality of life among a population-based sample of young adults with congenital heart defects 先天性心脏缺陷青年人群的局限性、抑郁症状和生活质量

Q Medicine

Birth defects research. Part A, Clinical and molecular teratology

Pub Date : 2016-03-17 DOI: 10.1002/bdra.23498

Sherry L. Farr, Matthew E. Oster, Regina M. Simeone, Suzanne M. Gilboa, Margaret A. Honein

Background

Little population-based data exist on limitations and health-related quality of life (HRQoL) in adults with congenital heart defects (CHD).

Methods

We used 2004 to 2012 Medical Expenditure Panel Survey data to identify a population-based sample of young adults ages 18 to 40 years reporting health symptoms or healthcare encounters in the previous year. Comparing adults reporting CHD to others, we examined the prevalence of cognitive, physical, and activity limitations, depressive symptoms, and physical and mental HRQoL. We used chi square tests to examine differences in demographic characteristics, logistic regression to generate adjusted prevalence ratios (aPR), and linear regression to examine HRQoL. Multivariable associations were adjusted for sex, age, race/ethnicity, and smoking status. All analyses were conducted in SUDAAN using weights to account for clustering within sampling units and nonresponse.

Results

Fifty-nine adults reported CHD (weighted prevalence = 0.1%; representing 700,000 U.S. adults from 2004 to 2012 or, on average, 80,000 per year) and 54,011 did not. No demographic characteristics differed significantly by CHD status except health insurance; 31.5% of adults with CHD, compared with 11.0% without, reported public insurance (p = 0.01). Compared with their counterparts, adults reporting CHD had a higher prevalence of cognitive (aPR = 2.7, 95% confidence interval (CI): 1.0, 7.2), physical (aPR = 4.0, 95% CI: 1.9, 8.2), and activity limitations (aPR = 4.8, 95% CI: 2.6, 9.1), and poorer physical HRQoL (p = 0.004). No differences were observed in depressive symptoms and mental HRQoL by CHD status.

Conclusion

关于成人先天性心脏缺陷(CHD)的局限性和健康相关生活质量(HRQoL)的基于人群的数据很少。方法:我们使用2004年至2012年的医疗支出小组调查数据来确定以人群为基础的样本，这些样本的年龄在18至40岁之间，报告了上一年的健康症状或医疗保健遭遇。将报告冠心病的成年人与其他人进行比较，我们检查了认知、身体和活动限制、抑郁症状以及身心HRQoL的患病率。我们使用卡方检验来检验人口学特征的差异，使用逻辑回归来产生调整患病率(aPR)，使用线性回归来检验HRQoL。多变量关联调整了性别、年龄、种族/民族和吸烟状况。所有分析都是在苏丹进行的，使用权重来解释抽样单位内的聚类和无响应。结果59名成人报告冠心病(加权患病率= 0.1%;从2004年到2012年，代表了70万美国成年人(平均每年8万人)，54011人没有。除健康保险外，不同冠心病状态的人口统计学特征无显著差异;31.5%的冠心病成年人报告有公共保险，而11.0%的冠心病成年人没有公共保险(p = 0.01)。与他们的同行相比，报告冠心病的成年人在认知(aPR = 2.7, 95%可信区间(CI): 1.0, 7.2)、身体(aPR = 4.0, 95% CI: 1.9, 8.2)和活动限制(aPR = 4.8, 95% CI: 2.6, 9.1)方面的患病率更高，身体HRQoL较差(p = 0.004)。冠心病状态对抑郁症状和精神HRQoL无显著影响。结论成人冠心病患者的身体健康和认知能力较非冠心病患者有所下降。出生缺陷研究(分册)，2016。©2016 Wiley期刊公司

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引用次数: 7

Limitations, depressive symptoms, and quality of life among a population-based sample of young adults with congenital heart defects. 先天性心脏缺陷青年人群的局限性、抑郁症状和生活质量

Q Medicine

Birth defects research. Part A, Clinical and molecular teratology

Pub Date : 2016-03-17 DOI: 10.1002/bdra.23498

S. Farr, M. Oster, Regina M. Simeone, S. Gilboa, M. Honein

BACKGROUNDLittle population-based data exist on limitations and health-related quality of life (HRQoL) in adults with congenital heart defects (CHD).METHODSWe used 2004 to 2012 Medical Expenditure Panel Survey data to identify a population-based sample of young adults ages 18 to 40 years reporting health symptoms or healthcare encounters in the previous year. Comparing adults reporting CHD to others, we examined the prevalence of cognitive, physical, and activity limitations, depressive symptoms, and physical and mental HRQoL. We used chi square tests to examine differences in demographic characteristics, logistic regression to generate adjusted prevalence ratios (aPR), and linear regression to examine HRQoL. Multivariable associations were adjusted for sex, age, race/ethnicity, and smoking status. All analyses were conducted in SUDAAN using weights to account for clustering within sampling units and nonresponse.RESULTSFifty-nine adults reported CHD (weighted prevalence = 0.1%; representing 700,000 U.S. adults from 2004 to 2012 or, on average, 80,000 per year) and 54,011 did not. No demographic characteristics differed significantly by CHD status except health insurance; 31.5% of adults with CHD, compared with 11.0% without, reported public insurance (p = 0.01). Compared with their counterparts, adults reporting CHD had a higher prevalence of cognitive (aPR = 2.7, 95% confidence interval (CI): 1.0, 7.2), physical (aPR = 4.0, 95% CI: 1.9, 8.2), and activity limitations (aPR = 4.8, 95% CI: 2.6, 9.1), and poorer physical HRQoL (p = 0.004). No differences were observed in depressive symptoms and mental HRQoL by CHD status.CONCLUSIONPhysical health and cognitive abilities of adults with CHD were compromised compared with adults without CHD. Birth Defects Research (Part A) 106:580-586, 2016. © 2016 Wiley Periodicals, Inc.

背景:关于成人先天性心脏缺陷(CHD)的局限性和健康相关生活质量(HRQoL)的基于人群的数据很少。方法:我们使用2004年至2012年医疗支出小组调查数据来确定以人群为基础的样本，这些样本的年龄在18至40岁之间，报告了上一年的健康症状或医疗保健遭遇。将报告冠心病的成年人与其他人进行比较，我们检查了认知、身体和活动限制、抑郁症状以及身心HRQoL的患病率。我们使用卡方检验来检验人口学特征的差异，使用逻辑回归来产生调整患病率(aPR)，使用线性回归来检验HRQoL。多变量关联调整了性别、年龄、种族/民族和吸烟状况。所有分析都是在苏丹进行的，使用权重来解释抽样单位内的聚类和无响应。结果59名成人报告冠心病(加权患病率= 0.1%;从2004年到2012年，代表了70万美国成年人(平均每年8万人)，54011人没有。除健康保险外，不同冠心病状态的人口统计学特征无显著差异;31.5%的冠心病成年人报告有公共保险，而11.0%的冠心病成年人没有公共保险(p = 0.01)。与他们的同行相比，报告冠心病的成年人在认知(aPR = 2.7, 95%可信区间(CI): 1.0, 7.2)、身体(aPR = 4.0, 95% CI: 1.9, 8.2)和活动限制(aPR = 4.8, 95% CI: 2.6, 9.1)方面的患病率更高，身体HRQoL较差(p = 0.004)。冠心病状态对抑郁症状和精神HRQoL无显著影响。结论与非冠心病患者相比，冠心病患者的身体健康和认知能力受到损害。出生缺陷研究(分册)，2016。©2016 Wiley期刊公司

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引用次数: 7

When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome 右(药)时应左:产前药物暴露和异位综合征

Q Medicine

Birth defects research. Part A, Clinical and molecular teratology

Pub Date : 2016-03-15 DOI: 10.1002/bdra.23497

Nicole R. van Veenendaal, Cynthia D.J. Kusters, Roelof-Jan Oostra, Jorieke E.H. Bergman, Jan-Maarten Cobben

Background

Recent studies reported an association between prenatal propylthiouracil exposure and birth defects, including abnormal arrangement across the left–right body axis, suggesting an association with heterotaxy syndrome.

Methods

This case–control and case-finding study used data from 1981 to 2013 from the EUROCAT birth defect registry in the Northern Netherlands. First, we explored prenatal exposures in heterotaxy syndrome (cases) and Down syndrome (controls). Second, we describe the specific birth defects in offspring of mothers using propylthiouracil (PTU) prenatally.

RESULTS

A total of 66 cases with heterotaxy syndrome (incidence 12.1 per 100,000 pregnancies) and 783 controls with Down syndrome (143.3 per 100,000 pregnancies) were studied. No differences in intoxication use during pregnancy were found between cases and controls, including smoking (28.0% vs. 22.7%; p = 0.40), alcohol (14.0% vs. 26.9%; p = 0.052), and recreational drugs (0 vs. 0.3%; p = 1.00). We found an association between heterotaxy syndrome and prenatal drug exposure to follitropin-alfa (5.6% vs. 1.1%; p = 0.04), and drugs used in nicotine dependence (3.7% vs. 0.2%; p = 0.02). Five mothers used PTU during pregnancy and gave birth to a child with trisomy 18, renal abnormalities, or hypospadias and cardiac defects.

Conclusion

This study identified follitropin-alfa and drugs used in nicotine dependence as possible teratogens of heterotaxy syndrome. Our data suggest the possibility that there is an increased risk of birth defects (including renal, urological, and cardiac abnormalities) in children born among mothers taking PTU prenatally, but not for heterotaxy syndrome. Birth Defects Research (Part A) 106:573–579, 2016. © 2016 Wiley Periodicals, Inc.

最近的研究报道了产前丙硫尿嘧啶暴露与出生缺陷之间的关系，包括在左右体轴上的异常排列，这表明与异位综合征有关。方法本病例对照和病例发现研究使用了1981年至2013年荷兰北部EUROCAT出生缺陷登记处的数据。首先，我们探讨了异位综合征(病例)和唐氏综合征(对照组)的产前暴露。其次，我们描述了母亲在产前使用丙基硫脲嘧啶(PTU)的后代的特定出生缺陷。结果共纳入66例异位综合征(发病率12.1 / 10万例)和783例唐氏综合征(发病率143.3 / 10万例)对照。在怀孕期间，病例和对照组之间的中毒使用没有差异，包括吸烟(28.0%对22.7%;P = 0.40)、酒精(14.0% vs. 26.9%;P = 0.052)和娱乐性药物(0 vs. 0.3%;P = 1.00)。我们发现异位综合征与产前药物暴露于卵磷脂- α之间存在关联(5.6% vs 1.1%;P = 0.04)，以及尼古丁依赖的药物使用(3.7% vs. 0.2%;P = 0.02)。5位母亲在怀孕期间使用PTU，生下了一个患有18三体、肾脏异常或尿道下裂和心脏缺陷的孩子。结论卵泡素- α和尼古丁依赖药物可能是异位综合征的致畸源。我们的数据表明，产前服用PTU的母亲所生的孩子有可能增加出生缺陷(包括肾脏、泌尿系统和心脏异常)的风险，但不存在异位综合征。出生缺陷研究(A辑)(06):573 - 579,2016。©2016 Wiley期刊公司

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引用次数: 5

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses POR基因中父亲亚显微缺失和母亲错义突变的复合杂合性:三个兄弟姐妹胎儿的Antley-bixler综合征表型

Q Medicine

Birth defects research. Part A, Clinical and molecular teratology

Pub Date : 2016-03-11 DOI: 10.1002/bdra.23492

Maria Tzetis, Anastasia Konstantinidou, Christalena Sofocleous, Konstantina Kosma, Anastasios Mitrakos, Christina Tzannatos, Sofia Kitsiou-Tzeli

Background

Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome that can be accompanied by disordered steroidogenesis, and is mainly caused by mutations in the POR gene, inherited in an autosomal recessive manner. Here we report the prenatal and postmortem findings of three sibling fetuses with ABS as a result of compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in the POR gene.

Methods

Prenatal ultrasound and postmortem examination were performed in three sibling fetuses with termination of pregnancy at 22, 23, and 17 weeks of gestation, respectively. Molecular analysis of fetus 2 and 3 included (a) bidirectional sequencing of exon 8 of the POR gene after amplification of the specific locus by polymerase chain reaction, to detect single nucleotide variants (SNVs) and (b) high resolution comparative genomic hybridization (CGH) positive single nucleotide polymorphism array CGH (aCGH) analysis to detect copy number variants (CNVs), copy neutral areas of loss of heterozygosity and uniparental disomy.

Results

The diagnosis of ABS was suggested by the postmortem examination findings. The combination of the POR gene molecular analysis and aCGH revealed a compound heterozygous genotype of a maternal SNV (p.A287P) and a paternal CNV (NC_000007.13:g.(?_75608488)_(75615534_?)del).

Conclusion

To the best of our knowledge, these sibling fetuses add to the few reported cases of ABS, caused by a combination of a SNV and a CNV in the POR gene. The detailed description of the pathologic and radiographic findings of second trimester fetuses affected with ABS adds novel knowledge concerning the early ABS phenotype, in lack of previous relevant reports. Birth Defects Research (Part A) 106:536–541, 2016. © 2016 Wiley Periodicals, Inc.

Antley-Bixler综合征(ABS)是一种非常罕见的颅缝闭锁综合征，可伴有甾体生成紊乱，主要由POR基因突变引起，以常染色体隐性遗传方式遗传。在这里，我们报告了三个兄弟姐妹胎儿的产前和尸检结果，这是由于父亲亚显微缺失和母亲POR基因错义突变的复合杂合性造成的。方法对3例妊娠22周、23周、17周终止妊娠的同胞胎儿进行产前超声和尸检检查。胎儿2和3的分子分析包括(a)通过聚合酶链反应扩增特定位点后，对POR基因8外显子进行双向测序，检测单核苷酸变异(SNVs); (b)高分辨率比较基因组杂交(CGH)阳性单核苷酸多态性阵列CGH (aCGH)分析，检测拷贝数变异(CNVs)。拷贝中性区杂合性缺失和孤本二体。结果尸检结果提示ABS的诊断。将POR基因分子分析与aCGH结合，发现母源SNV (p.A287P)和父源CNV (NC_000007.13:g.(_75608488)_(75615534_?)del)为复合杂合基因型。结论据我们所知，这些同胞胎儿增加了少数报道的ABS病例，由POR基因的SNV和CNV的组合引起。详细描述了中期妊娠胎儿ABS的病理和影像学表现，增加了对早期ABS表型的新认识，这是以往相关报道所缺乏的。出生缺陷研究(A辑)(06):536 - 541,2016。©2016 Wiley期刊公司

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引用次数: 10