Birth Defects Research最新文献_第9页

Alcohol exposure during pregnancy induces cardiac mitochondrial damage in offspring mice 怀孕期间接触酒精会诱发后代小鼠心脏线粒体损伤。

IF 2.1 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-06-14 DOI: 10.1002/bdr2.2369

Yujuan Su, Yujuan Yu, Junjun Quan, Junjie Zhang, Ying Xu

Background

Prenatal alcohol exposure (PAE) has been linked to congenital heart disease and fetal alcohol syndrome. The heart primarily relies on mitochondria to generate energy, so impaired mitochondrial function due to alcohol exposure can significantly affect cardiac development and function. Our study aimed to investigate the impact of PAE on myocardial and mitochondrial functions in offspring mice.

Methods

We administered 30% alcohol (3 g/kg) to pregnant C57BL/6 mice during the second trimester. We assessed cardiac function by transthoracic echocardiography, observed myocardial structure and fibrosis through staining tests and electron transmission microscopy, and detected cardiomyocyte apoptosis with dUTP nick end labeling assay and real-time quantitative PCR. Additionally, we measured the reactive oxygen species content, ATP level, and mitochondrial DNA copy number in myocardial mitochondria. Mitochondrial damage was evaluated by assessing the level of mitochondrial membrane potential and the opening degree of mitochondrial permeability transition pores.

Results

Our findings revealed that PAE caused cardiac systolic dysfunction, ventricular enlargement, thinned ventricular wall, cardiac fibrosis in the myocardium, scattered loss of cardiomyocytes, and disordered arrangement of myocardial myotomes in the offspring. Furthermore, we observed a significant increase in mitochondrial reactive oxygen species content, a decrease in mitochondrial membrane potential, ATP level, and mitochondrial DNA copy number, and sustained opening of mitochondrial permeability transition pores in the heart tissues of the offspring.

Conclusions

These results indicated that PAE had adverse effects on the cardiac structure and function of the newborn mice and could trigger oxidative stress in their myocardia and contribute to mitochondrial dysfunction.

背景：产前酒精暴露（PAE）与先天性心脏病和胎儿酒精综合征有关。心脏主要依靠线粒体产生能量，因此酒精暴露导致的线粒体功能受损会严重影响心脏的发育和功能。我们的研究旨在探讨 PAE 对后代小鼠心肌和线粒体功能的影响：方法：我们在 C57BL/6 小鼠妊娠的后三个月给其注射 30% 的酒精（3 克/千克）。我们通过经胸超声心动图评估心功能，通过染色试验和电子透射显微镜观察心肌结构和纤维化，并通过 dUTP 缺口标记法和实时定量 PCR 检测心肌细胞凋亡。此外，我们还测量了心肌线粒体中的活性氧含量、ATP水平和线粒体DNA拷贝数。线粒体损伤通过评估线粒体膜电位水平和线粒体通透性转换孔的开放程度进行评估：结果：我们的研究结果表明，PAE会导致后代心脏收缩功能障碍、心室扩大、心室壁变薄、心肌纤维化、心肌细胞散在丢失以及心肌肌节排列紊乱。此外，我们还观察到子代心脏组织中线粒体活性氧含量明显增加，线粒体膜电位、ATP水平和线粒体DNA拷贝数下降，线粒体通透性转换孔持续开放：这些结果表明，PAE 对新生小鼠的心脏结构和功能有不利影响，可能引发小鼠心肌的氧化应激，导致线粒体功能障碍。

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引用次数: 0

Correction to “Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome” 更正 "小头畸形新生儿的辐射敏感性：奈梅亨断裂综合征病例报告"。

IF 2.1 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-06-14 DOI: 10.1002/bdr2.2373

Cakmak Genc, G., Yilmaz, B., Karakas Celik, S., Aydemir, C., Eroz, R., & Dursun, A. (2024). Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome. Birth Defects Research, 116(5), e2346. https://doi.org/10.1002/bdr2.2346

In the originally published article, the title was Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome. The correct title is Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome. This has been updated in the online version of the article.

We apologize for this error.

Cakmak Genc, G., Yilmaz, B., Karakas Celik, S., Aydemir, C., Eroz, R., & Dursun, A. (2024)。小头畸形新生儿的辐射敏感性：奈梅亨断裂综合征病例报告。出生缺陷研究》，116（5），e2346。https://doi.org/10.1002/bdr2.2346In，最初发表的文章标题为《小头畸形新生儿的辐射敏感性：奈梅亨断裂综合征病例报告》：奈梅亨断裂综合征病例报告》。正确的标题是：小头畸形新生儿的辐射敏感性：奈梅亨断裂综合征病例报告。我们对这一错误表示歉意。

引用次数: 0

Oral exposure to polystyrene nanoplastics altered the hypothalamic–pituitary–testicular axis role in hormonal regulation, inducing reproductive toxicity in albino rats 口服聚苯乙烯纳米塑料会改变下丘脑-垂体-睾丸轴在激素调节中的作用，并诱发白化大鼠的生殖毒性。

IF 2.1 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-06-14 DOI: 10.1002/bdr2.2368

Marwa M. Ebrahim, Mai H. El-Dakdoky, Sara Hatem El-Shafiey, Amany S. Amer

Background

Nanoplastics can be considered a novel contaminant for the environment because of their extensive applications in modern society, which represents a possible threat to humans. Nevertheless, the negative effect of polystyrene nanoplastics (PS-NPs) on male reproduction, fertility, and progeny outcomes is not well known. Thus, the aim of the present work was to calculate the median lethal dose (LD50) and investigate the consequences of exposure to PS-NPs (25 nm) on male reproductive toxicity.

Methods

This investigation first determined the LD50 of PS-NPs in male Wistar rats, and then in a formal study, 24 rats were distributed into three groups (n = 8): the control group; the low-dose group (3 mg/kg bw); and the high-dose group (10 mg/kg bw) of PS-NPs administered orally for 60 days. On the 50^th day of administration, the fertility test was conducted.

Results

The LD50 was determined to be 2500 mg/kg. PS-NP administration induced significant alternations, mainly indicating mortality in the high-dose group, a significant elevation in body weight gain, declined sperm quality parameters, altered reproductive hormonal levels, thyroid endocrine disruption, an alternation of the normal histo-architecture and the histo-morphometric analysis of the testes, and impaired male fertility.

Conclusion

Altogether, the current findings provide novel perspectives on PS-NP general toxicity with specific reference to male reproductive toxicity.

背景：由于纳米塑料在现代社会中的广泛应用，纳米塑料可被视为一种新型环境污染物，可能对人类构成威胁。然而，聚苯乙烯纳米塑料（PS-NPs）对雄性繁殖、生育能力和后代的负面影响尚不十分清楚。因此，本研究的目的是计算中位致死剂量（LD50），并调查暴露于聚苯乙烯纳米塑料（25 纳米）对男性生殖毒性的影响：本研究首先测定了 PS-NPs 在雄性 Wistar 大鼠体内的半数致死剂量，然后在正式研究中将 24 只大鼠分为三组（n = 8）：对照组、低剂量组（3 毫克/千克体重）和高剂量组（10 毫克/千克体重），连续口服 PS-NPs 60 天。在给药的第 50 天，进行生育力测试：结果：半数致死剂量为 2500 毫克/千克。结果：PS-NP 的半数致死剂量被确定为 2500 毫克/千克，给药引起了显著的变化，主要表现为高剂量组的死亡率、体重增加显著、精子质量指标下降、生殖激素水平改变、甲状腺内分泌紊乱、睾丸的正常组织结构和组织形态分析发生变化以及男性生育能力受损：总之，目前的研究结果为 PS-NP 的一般毒性，特别是男性生殖毒性提供了新的视角。

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引用次数: 0

Docosahexaenoic acid, eicosapentaenoic acid, arachidonic acid, and neural tube defects in Tunisian population 突尼斯人口中的二十二碳六烯酸、二十碳五烯酸、花生四烯酸和神经管缺陷。

IF 2.1 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-06-14 DOI: 10.1002/bdr2.2372

Kaouther Nasri, Nadia Ben Jamaa, Soumeya Siala Gaigi, Moncef Feki, Raja Marrakchi

Objective

To determine the effect of maternal status in (plasma and red blood cell) folate, vitamin B12, homocysteine, and vitamin D, as well as their interaction with MTHFR (C677T and A1298C) and MTRR A66G polymorphisms, on maternal plasma docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA), and arachidonic acid (ARA) levels and the risk of neural tube defects (NTDs).

Methods

ARA, EPA, and DHA composition was assessed using capillary gas chromatography.

Results

ARA and DHA levels were higher in controls than in case mothers for low plasma folate status. For low red blood cell folate status, DHA levels were higher in controls than in case mothers. For high homocysteine levels, ARA and DHA levels were higher in controls than in case mothers. NTD mothers had lower EPA and DHA levels for low vitamin B12 levels. NTD mothers had lower DHA levels for low vitamin D levels. For low plasma folate status, DHA levels in the MTHFR C677T gene and ARA and EPA levels in MTHFR A1298C gene were different among the three genotypes in case mothers. DHA levels in the MTHFR C677T gene were different among the three genotypes in case mothers for both low and high homocysteine levels. For low vitamin B12 levels, ARA and DHA levels were different among the three genotypes of the MTHFR C677T gene in case mothers. In the MTHFR C677T gene, ARA and DHA levels were different among the three genotypes in case mothers for low vitamin D levels.

Conclusions

More advanced research is required to verify a suitable biochemical parameter status in relation to the genotypes in pregnant women.

目的确定母体（血浆和红细胞）叶酸、维生素 B12、同型半胱氨酸和维生素 D 的状况及其与 MTHFR（C677T 和 A1298C）和 MTRR A66G 多态性的相互作用对母体血浆二十二碳六烯酸 (DHA)、二十碳五烯酸 (EPA) 和花生四烯酸 (ARA) 水平以及神经管畸形 (NTD) 风险的影响：方法：使用毛细管气相色谱法评估 ARA、EPA 和 DHA 的组成：在血浆叶酸水平低的情况下，对照组母亲的 ARA 和 DHA 水平高于病例母亲。在红细胞叶酸含量低的情况下，对照组的 DHA 含量高于病例母亲。在同型半胱氨酸水平较高的情况下，对照组母亲的 ARA 和 DHA 水平高于病例母亲。维生素 B12 水平低时，NTD 母亲的 EPA 和 DHA 水平较低。维生素 D 水平低时，NTD 母亲的 DHA 水平也较低。在血浆叶酸含量低的情况下，病例母亲的 MTHFR C677T 基因中的 DHA 含量以及 MTHFR A1298C 基因中的 ARA 和 EPA 含量在三种基因型之间存在差异。在同型半胱氨酸水平较低和较高的情况下，病例母亲的 MTHFR C677T 基因中的 DHA 含量在三种基因型之间存在差异。在维生素 B12 含量低的情况下，病例母亲中 MTHFR C677T 基因的三种基因型的 ARA 和 DHA 含量也不同。在维生素 D 含量低的情况下，病例母亲的 MTHFR C677T 基因的三种基因型的 ARA 和 DHA 含量也不同：结论：需要进行更深入的研究，以验证与孕妇基因型相关的适当生化参数状态。

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引用次数: 0

Dichorionic diamniotic twin pregnancy after preimplantation genetic testing and single blastocyst transfer 植入前基因检测和单囊胚移植后的二绒毛膜双胎妊娠。

IF 2.1 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-06-13 DOI: 10.1002/bdr2.2366

Qiuxiang Huang, Wei Yan, Lihua Mao, Caixia Wang, Juan Lin, Yun Liu, Zhihong Wang

Background

In addition to the potential for multiple pregnancies, natural conception occurring in preimplantation genetic testing (PGT) increases undesired genetic risk. Some studies showed that a dichorionic diamniotic twin pregnancy after a single blastocyst transfer could be caused by embryo splitting or concurrent spontaneous conception.

Case

We describe a patient undergoing PGT who had a dichorionic diamniotic twin pregnancy after single blastocyst transfer in a natural cycle. In this case, we recommended to determine genetic status of the twins by prenatal diagnosis. The results showed that karyotype, chromosome copy number variation, and parental ACAT1 variation of the twins were all normal and similar. To investigate the origin of pregnancy, we used the genotype data of single-nucleotide polymorphisms typical of genome-wide association studies. Dizygotic twins were inferred by robust estimation of kinship coefficients, which confirmed the occurrence of a spontaneous conception.

Conclusions

This case strengthens the importance of genetic counseling to inform couples with reproductive genetic risk, such as those who undergo PGT, that intercourse should be avoided, especially in natural transfer cycles. Moreover, prenatal diagnosis remains essential and is strongly recommended to avoid genetic risks.

背景：植入前基因检测（PGT）中发生的自然受孕除了可能导致多胎妊娠外，还会增加意外遗传风险。一些研究表明，单囊胚移植后的二绒毛膜双胎妊娠可能是由胚胎分裂或同时自然受孕引起的：我们描述了一名在自然周期中接受 PGT 的患者，在单囊胚移植后出现了二绒毛膜双胎妊娠。在这种情况下，我们建议通过产前诊断确定双胞胎的遗传状况。结果显示，双胞胎的核型、染色体拷贝数变异和父母 ACAT1 变异均正常且相似。为了研究妊娠起源，我们使用了全基因组关联研究中典型的单核苷酸多态性基因型数据。通过对亲缘关系系数的稳健估计，我们推断出了异卵双胞胎，这证实了自然受孕的发生：本病例加强了遗传咨询的重要性，告知有生殖遗传风险的夫妇，如接受 PGT 的夫妇，应避免性交，尤其是在自然受孕周期。此外，为避免遗传风险，产前诊断仍是必不可少的，并强烈建议进行产前诊断。

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引用次数: 0

A systematic review of barriers to accessing cleft care worldwide 对全球范围内获得唇裂护理的障碍进行系统性审查。

IF 2.1 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-06-07 DOI: 10.1002/bdr2.2364

Ana María Cerón-Zapata, Ruben Darío Manrique-Hernández, Luz Mery Mejía-Ortega

Purpose

Patients with cleft lip/palate need an interdisciplinary approach. Delays in the care of these patients and difficulties in accessing health services have been reported in different low-, middle-, and high-income countries. This study aimed to characterize worldwide publications on access to cleft lip and palate health treatment.

Methods

Databases were selected systematically and searched until July 2021. The review process followed standard methods for systematic reviews. The study quality was evaluated using the Strengthening the Reporting of Observational studies in Epidemiology guidelines for observational studies.

Results

A total of 289 publications were identified using our search strategy. After reviewing the titles and reading the abstracts and full text, 16 studies met the inclusion criteria in the review. In one study, financial difficulties obtained the attention of the professionals who attended to cleft lip/palate patients. Ethnic disparities, problems in transportation, and long distances between users and health centers were found. Additionally, there was misinformation about treatment and follow-up among the caregivers of patients with cleft lip/palate.

Conclusion

When reviewing the literature on access to health services for patients with cleft lip/palate, barriers were reported in access to information, physical access to care centers, financial resources to cover expenses for treatment, and opportunities in care.

目的：唇腭裂患者需要跨学科的治疗方法。据报道，在不同的低收入、中等收入和高收入国家，这些患者在接受治疗方面存在延误和难以获得医疗服务的情况。本研究旨在分析全球范围内有关唇腭裂医疗服务的出版物：方法：系统地选择数据库，并搜索至 2021 年 7 月。综述过程遵循系统综述的标准方法。研究质量采用《加强流行病学中观察性研究的报告》观察性研究指南进行评估：采用我们的搜索策略共发现了 289 篇出版物。在审阅标题、阅读摘要和全文后，16 项研究符合综述的纳入标准。在一项研究中，经济困难引起了护理唇腭裂患者的专业人员的注意。研究还发现了种族差异、交通问题以及用户与医疗中心之间距离遥远等问题。此外，唇腭裂患者的护理人员在治疗和随访方面也存在误导：在查阅有关唇腭裂患者获得医疗服务的文献时，发现在获取信息、前往医疗中心的交通、支付治疗费用的经济来源以及护理机会等方面存在障碍。

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引用次数: 0

Folic acid supplementation in women of childbearing age with epilepsy: Missing the forest for the trees? 为患有癫痫的育龄妇女补充叶酸：只见树木，不见森林？

IF 2.1 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-06-05 DOI: 10.1002/bdr2.2332

Alain Braillon

引用次数: 0

Rodent anogenital distance recommendations 啮齿动物肛门距离建议。

IF 2.1 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-06-01 DOI: 10.1002/bdr2.2347

L. David Wise

Background

Measurement of rat anogenital distance (AGD) dates to at least 1912. Increased interest in endocrine disrupting chemicals and the use of AGD as a biomarker for fetal androgen effects have increased the number of studies with this endpoint in recent decades. A literature review revealed different landmarks, methods of measurement, and methods to adjust for body weight differences. AGD is often reported to hundredths of millimeters and as such, deserves precision in all these aspects. This paper presents recommendations for the measurement and analysis of rodent AGD.

Methods

Literature and regulatory guidance documents that mentioned or measured rodent AGD were reviewed. Four adjustment methods were evaluated using available online data from three rat studies each with two generations of offspring.

Results

Tabulation of studies reveals that species/stocks and time of data collection, but more importantly anatomical landmarks and methods of measurement have produced a variety of results which are difficult to compare. Not all studies have adjusted for test article effects on body weight (and thus size). The four adjustment methods were fairly comparable.

Conclusion

Recommendations are as follows. A microscopic method should be used to measure AGD of late rodent fetuses and early postnatal pups. The caudal edge of the genital tubercle and the cranial edge of the anus are clear and identifiable landmarks. The simplest adjustment is to divide individual AGDs by the cube root of animals’ body weight. These recommendations will help ensure data consistency and accuracy, and facilitate meaningful comparisons across laboratories and chemical classes.

背景：对大鼠肛门距离（AGD）的测量至少可以追溯到 1912 年。近几十年来，人们对干扰内分泌的化学物质越来越感兴趣，并将 AGD 用作胎儿雄激素影响的生物标志物，从而增加了对这一终点的研究数量。文献综述显示了不同的地标、测量方法和调整体重差异的方法。AGD 通常以百分之一毫米为单位进行报告，因此在所有这些方面都需要精确。本文提出了测量和分析啮齿动物 AGD 的建议：方法：查阅了提及或测量啮齿动物 AGD 的文献和监管指导文件。利用三项大鼠研究的在线数据对四种调整方法进行了评估，每项研究都包含两代后代：研究列表显示，物种/种群和数据收集时间，但更重要的是解剖标志物和测量方法，产生了难以比较的各种结果。并非所有研究都对试验品对体重（以及体型）的影响进行了调整。四种调整方法具有相当的可比性：建议如下应使用显微镜方法测量啮齿类晚期胎儿和出生后早期幼鼠的 AGD。生殖器结节的尾缘和肛门的颅缘是清晰可辨的地标。最简单的调整方法是将单个 AGD 除以动物体重的立方根。这些建议将有助于确保数据的一致性和准确性，并有助于在不同实验室和化学类别之间进行有意义的比较。

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引用次数: 0

Absent or hypoplastic nasal bone: What to tell the prospective parents? 鼻骨缺失或发育不良：如何告诉未来的父母？

IF 2.1 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-05-27 DOI: 10.1002/bdr2.2348

Shreya Das, Charu Sharma, Taruna Yadav, Kalika Dubey, Shashank Shekhar, Pratibha Singh, Kuldeep Singh, Meenakshi Gothwal, Manisha Jhirwal, Dolat Singh Shekhawat

Background

Absent or hypoplastic nasal bone (AHNB) on first or second-trimester ultrasonography (USG) is an important soft marker of Down syndrome. However, due to its varied incidence in euploid and aneuploid fetuses, there is always a dilemma of whether to go for invasive fetal testing for isolated AHNB. This study aims to assess outcomes specifically within the context of Indian ethnicity women.

Materials and Methods

This was a prospective observational study. All patients who reported with AHNB in the first- or second-trimester USG were included. Genetic counseling was done, and noninvasive and invasive testing was offered. Chromosomal anomalies were meticulously recorded, and pregnancy was monitored.

Results

The incidence of AHNB in our study was 1.16% (47/4051). Out of 47 women with AHNB, the isolated condition was seen in 32 (0.78%) cases, while AHNB with structural anomalies was seen in nine cases (0.22%). Thirty-nine women opted for invasive testing. Six out of 47 had aneuploidy (12.7%), while two euploid cases (4.25%) developed nonimmune hydrops. The prevalence of Down syndrome in fetuses with AHNB was 8.5% (4/47) and 0.42% (17/4004) in fetuses with nasal bone present. This difference was statistically significant (p = .001).

Conclusion

The results indicate that isolated AHNB cases should be followed by a comprehensive anomaly scan rather than immediately recommending invasive testing. However, invasive testing is required when AHNB is associated with other soft markers or abnormalities. As chromosomal microarray is more sensitive than standard karyotype in detecting chromosomal aberrations, it should be chosen over karyotype.

背景：第一或第二孕期超声造影（USG）显示的鼻骨缺失或鼻骨发育不良（AHNB）是唐氏综合征的重要软标志物。然而，由于其在优倍体和非整倍体胎儿中的发生率不同，是否对孤立的鼻骨缺失进行侵入性胎儿检测始终是一个两难选择。本研究旨在评估印度裔妇女的具体结果：这是一项前瞻性观察研究。所有在第一或第二孕期 USG 中报告有 AHNB 的患者均被纳入研究。对患者进行遗传咨询，并提供无创和有创检测。对染色体异常进行了详细记录，并对妊娠进行了监测：在我们的研究中，AHNB 的发生率为 1.16%（47/4051）。在 47 名患有 AHNB 的妇女中，32 例（0.78%）为单独病例，9 例（0.22%）为 AHNB 伴有结构异常。39 名妇女选择了侵入性检查。47 例中有 6 例（12.7%）为非整倍体，2 例（4.25%）为优生体质，患上了非免疫性肾积水。患有 AHNB 的胎儿中唐氏综合征的发生率为 8.5%（4/47），而鼻骨存在的胎儿中唐氏综合征的发生率为 0.42%（17/4004）。这一差异具有统计学意义（P = .001）：结果表明，孤立的 AHNB 病例应进行全面异常扫描，而不是立即建议进行有创检查。然而，当 AHNB 与其他软标记物或异常相关联时，则需要进行侵入性检测。由于染色体微阵列在检测染色体畸变方面比标准核型更敏感，因此应选择染色体微阵列而不是核型。

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引用次数: 0

Potential risk factors for hypospadias and negative correlation with DICER1 (rs3742330) A>G variant in Algerian population: A case-control study 阿尔及利亚人群尿道下裂的潜在风险因素及与 DICER1 (rs3742330) A>G 变异的负相关：病例对照研究。

IF 2.1 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-05-27 DOI: 10.1002/bdr2.2365

Laouar Rania, Chellat Djalila, Djoudi Brahim, Achou Rayene, Horchi Meroua, Touabti Souhem, Atrih Zoubir, Choutri Hichem, Boukri Asma, Satta Dalila, Sifi Karima

Background

Hypospadias continues to be a prevalent congenital anomaly affecting the male external genitalia, characterized by an unclear origin and complex treatment approaches. This study aimed to investigate the risk factors associated with hypospadias and explore its genetic link with the DICER1 rs3742330 variant.

Methods

The study involved two groups: 105 male children with hypospadias and 111 healthy male children as matched controls. Detailed history and physical examinations were conducted for all patients and controls. PCR-restriction fragment length polymorphism was utilized to identify the DICER1 rs3742330 variant, analyzing genotype distribution and allele frequency. Logistic regression analysis estimated the risk factors for hypospadias.

Results

The mean age in the hypospadias group was 4.56 ± 2.50 years. The most prevalent type of hypospadias observed was the anterior type in 60 children (57.14%). Intrauterine growth restriction, advanced maternal age, and gestational hypertension were identified as significant risk factors for hypospadias (p = .011, p = .016, and p = .041, respectively). Regarding the genetic study, no significant difference was found in both genotype and allele frequencies of the DICER1 rs3742330 variant between case and control groups.

Conclusions

The rs3742330 variant in the DICER1 gene showed no association with hypospadias cases in the Algerian population. However, multivariate logistic regression analysis identified preterm birth, low birth weight, intrauterine growth restriction, advanced maternal age, gestational diabetes, and rural residence as the most significant independent predictors for hypospadias.

背景：尿道下裂仍然是影响男性外生殖器的一种常见先天性畸形，其特点是病因不明，治疗方法复杂。本研究旨在调查尿道下裂的相关风险因素，并探讨其与 DICER1 rs3742330 变异的遗传联系：研究包括两组：105 名尿道下裂男童和 111 名健康男童作为匹配对照。对所有患者和对照组进行了详细的病史和体格检查。利用PCR-限制性片段长度多态性鉴定DICER1 rs3742330变异，分析基因型分布和等位基因频率。逻辑回归分析估计了尿道下裂的风险因素：尿道下裂患者的平均年龄为（4.56 ± 2.50）岁。尿道下裂最常见的类型是前尿道下裂，有 60 名患儿（57.14%）。宫内生长受限、高龄产妇和妊娠高血压被认为是尿道下裂的重要风险因素（分别为 p = .011、p = .016 和 p = .041）。在基因研究方面，病例组和对照组的 DICER1 rs3742330 变体的基因型和等位基因频率均无明显差异：结论：在阿尔及利亚人群中，DICER1 基因 rs3742330 变体与尿道下裂病例没有关联。然而，多变量逻辑回归分析发现，早产、低出生体重、宫内生长受限、高龄产妇、妊娠糖尿病和农村居民是尿道下裂最重要的独立预测因素。

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引用次数: 0