Birth Defects Research最新文献_第5页

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 Q1 Medicine

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

In vitro fertilization and pregnancy outcomes of women with X chromosome abnormality: A case series X 染色体异常妇女的体外受精和妊娠结局：病例系列。

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-05-23 DOI: 10.1002/bdr2.2349

Ruohan Wang, Linyu Zhang, Jia Liao, Fang Ma, Qianhong Ma

Background

To describe and conclude the in vitro fertilization (IVF) results of patients with X chromosome abnormality.

Methods

A retrospective case series was conducted. According to the number of normal X, patients were allocated into two groups: Group A (patients with only a normal X, while other X has any types of abnormalities) and Group B (patients have two or more normal X chromosomes). Clinical data, including basic information, fertility information, and IVF outcomes, were collected.

Results

Fourteen patients with X chromosome abnormality were included, among which 13 patients underwent a total of 29 cycles. Patients in Group B had five successful pregnancies and three live births, while no patient in Group A had a clinical pregnancy. Furthermore, the blastocyst formation rate and incidence of pregnancy were significantly lower in Group A (Z = −3.135, p = .002; Z = −2.946, p = .003, respectively). When controlled covariates, the karyotype of one normal X was also a risk factor for both blastocyst formation rate and success pregnancy (β = .820, 95% confidence interval [CI] = 0.458–1.116, β = .333, 95% CI = 0.017–0.494, respectively).

Conclusions

Our results revealed that women with only one normal X might suffer from worse IVF outcomes, mainly blastocyst formation rate, compared with those who had two or more normal X, including mosaic Turner syndrome and 47,XXX.

背景：描述并总结X染色体异常患者的体外受精（IVF）结果：描述并总结 X 染色体异常患者的体外受精（IVF）结果：方法：进行了一项回顾性病例系列研究。根据正常 X 的数量，将患者分为两组：A组（只有一条X染色体正常，其他X染色体有任何类型异常的患者）和B组（有两条或两条以上X染色体正常的患者）。收集临床数据，包括基本信息、生育信息和试管婴儿结果：结果：共纳入了 14 名 X 染色体异常患者，其中 13 名患者共接受了 29 个周期的治疗。B 组患者成功妊娠 5 例，活产 3 例，而 A 组患者没有临床妊娠。此外，A 组的囊胚形成率和妊娠发生率明显较低（Z = -3.135，p = .002；Z = -2.946，p = .003）。当控制协变量时，一个正常 X 的核型也是囊胚形成率和成功妊娠率的风险因素（β = .820，95% 置信区间 [CI] = 0.458-1.116；β = .333，95% CI = 0.017-0.494）：我们的研究结果表明，与有两个或两个以上正常 X（包括特纳综合征镶嵌型和 47,XXX 型）的妇女相比，只有一个正常 X 的妇女的试管婴儿结果（主要是囊胚形成率）可能更差。

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引用次数: 0

Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second-trimester using chromosomal microarray analysis 利用染色体微阵列分析对第二孕期鼻骨缺失/发育不良的胎儿进行产前诊断。

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-05-20 DOI: 10.1002/bdr2.2351

Xinying Chen, Yuying Jiang, Shuhong Zeng, Jianlong Zhuang, Na Lin

Background

Pathogenic copy number variants (pCNVs) are associated with fetal ultrasound anomalies, which can be efficiently identified through chromosomal microarray analysis (CMA). The primary objective of the present study was to enhance understanding of the genotype–phenotype correlation in fetuses exhibiting absent or hypoplastic nasal bones using CMA.

Methods

Enrolled in the present study were 94 cases of fetuses with absent/hypoplastic nasal bone, which were divided into an isolated absent/hypoplastic nasal bone group (n = 49) and a non-isolated group (n = 45). All pregnant women enrolled in the study underwent karyotype analysis and CMA to assess chromosomal abnormalities in the fetuses.

Results

Karyotype analysis and CMA detection were successfully performed in all cases. The results of karyotype and CMA indicate the presence of 11 cases of chromosome aneuploidy, with trisomy 21 being the most prevalent among them. A small supernumerary marker chromosome (sSMC) detected by karyotype analysis was further interpreted as a pCNV by CMA. Additionally, CMA detection elicited three cases of pCNVs, despite normal findings in their karyotype analysis results. Among them, one case of Roche translocation was identified to be a UPD in chromosome 15 with a low proportion of trisomy 15. Further, a significant difference in the detection rate of pCNVs was observed between non-isolated and isolated absent/hypoplastic nasal bone (24.44% vs. 8.16%, p < .05).

Conclusion

The present study enhances the utility of CMA in diagnosing the etiology of absent or hypoplastic nasal bone in fetuses. Further, isolated cases of absent or hypoplastic nasal bone strongly suggest the presence of chromosomal abnormalities, necessitating genetic evaluation through CMA.

背景：致病性拷贝数变异（pCNVs）与胎儿超声异常有关，可通过染色体微阵列分析（CMA）有效识别。本研究的主要目的是利用 CMA 进一步了解鼻骨缺失或鼻骨发育不良胎儿的基因型与表型之间的相关性：本研究共纳入 94 例鼻骨缺失/鼻骨发育不良的胎儿，分为孤立性鼻骨缺失/鼻骨发育不良组（49 例）和非孤立性鼻骨缺失/鼻骨发育不良组（45 例）。所有参与研究的孕妇都接受了核型分析和 CMA，以评估胎儿的染色体异常：结果：所有病例均成功进行了核型分析和 CMA 检测。结果：所有病例均成功进行了核型分析和 CMA 检测。核型分析和 CMA 检测结果显示，11 例胎儿存在染色体非整倍体，其中以 21 三体综合征最为常见。核型分析检测到的一条小的超常标记染色体（sSMC）被 CMA 进一步解释为 pCNV。此外，尽管核型分析结果正常，但 CMA 检测仍发现了三例 pCNV。其中一例罗氏易位被鉴定为 15 号染色体上的 UPD，15 三体比例较低。此外，非分离型和分离型缺失/增生性鼻骨的 pCNVs 检出率有明显差异（24.44% vs. 8.16%，p 结论：本研究提高了 pCNVs 检测的实用性：本研究提高了 CMA 在诊断胎儿鼻骨缺失或鼻骨发育不良病因方面的实用性。此外，孤立的鼻骨缺失或鼻骨发育不良病例强烈提示存在染色体异常，因此有必要通过 CMA 进行遗传学评估。

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引用次数: 0

Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome 患有小耳症的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 Q1 Medicine

Birth Defects Research

Pub Date : 2024-05-18 DOI: 10.1002/bdr2.2346

Gunes Cakmak Genc, Busra Yilmaz, Sevim Karakas Celik, Cumhur Aydemir, Recep Eroz, Ahmet Dursun

Aim

Nijmegen breakage syndrome (NBS) is an autosomal recessive DNA repair disorder which is characterized by immunodeficiency and increased risk of lymphoproliferative malignancy.

Case

We observed an increase in the rate of chromosomal rearrangements in the cultured cells following an incidental radiograph for craniosynostosis in a newborn who was followed up due to microcephaly. We identified a homozygous deletion of c.657_661delACAAA/p.Lys219fs (rs587776650) in the NBN gene through whole exome sequencing.

Conclusion

It is crucial to thoroughly examine the clinical features of newborns with microcephaly and consider chromosomal instability syndromes just like Nijmegen breakage syndrome. Not overlooking radiosensitivity, which is a characteristic feature of this syndrome, is a vital condition to the patient's survival time.

目的：奈梅亨断裂综合征（NBS）是一种常染色体隐性遗传 DNA 修复障碍，其特征是免疫缺陷和淋巴增生性恶性肿瘤风险增加：我们观察到，一名因小头畸形而接受随访的新生儿，在一次偶然的颅骨发育不良放射影像检查后，其培养细胞的染色体重排率增加。我们通过全外显子测序确定了 NBN 基因中 c.657_661delACAAA/p.Lys219fs (rs587776650) 的同源缺失：结论：彻底检查小头畸形新生儿的临床特征并考虑染色体不稳定综合征（如奈梅亨断裂综合征）至关重要。不要忽视辐射敏感性这一综合征的特征，这对患者的存活时间至关重要。

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引用次数: 0

(−)-Epicatechin gallate ameliorates cyprodinil-induced cardiac developmental defects through inhibiting aryl hydrocarbon receptor in zebrafish (-)-表儿茶素没食子酸酯通过抑制斑马鱼体内的芳基烃受体改善环丁胺诱导的心脏发育缺陷

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-05-18 DOI: 10.1002/bdr2.2350

Dongqin Huang, Yuchao Su, Mingmei Li, Chengwei Xie, Weibin Hu, Shuxiang Wang, Nanmei Zheng, Jianhui Chen, Yueyun Lin, Weize Cai, Jianjia Xiao, Baojia Chen, Nanping Hu, Fushan Zhou

Background

Cyprodinil is a widely used fungicide with broad-spectrum activity, but it has been associated with cardiac abnormalities. (−)-Epicatechin gallate (ECG), a natural polyphenolic compound, has been shown to possess protective properties in cardiac development.

Methods

In this study, we investigated whether ECG could mitigate cyprodinil-induced heart defects using zebrafish embryos as a model. Zebrafish embryos were exposed to cyprodinil with or without ECG.

Results

Our results demonstrated that ECG significantly improved the survival rate, embryo movement, and hatching delay induced by cyprodinil. Furthermore, ECG effectively ameliorated cyprodinil-induced cardiac developmental toxicity, including pericardial anomaly and impairment of cardiac function. Mechanistically, ECG attenuated the cyprodinil-induced alterations in mRNA expression related to cardiac development, such as amhc, vmhc, tbx5, and gata4, as well as calcium ion channels, such as ncx1h, atp2a2a, and cdh2. Additionally, ECG was found to inhibit the activity of the aryl hydrocarbon receptor (AhR) signaling pathways induced by cyprodinil.

Conclusions

In conclusion, our findings provide evidence for the protective effects of ECG against cyprodinil-induced cardiac developmental toxicity, mediated through the inhibition of AhR activity. These findings contribute to a better understanding of the regulatory mechanisms and safe utilization of pesticide, such as cyprodinil.

背景：嘧菌酯是一种广泛使用的杀真菌剂，具有广谱活性，但它与心脏异常有关。(-)-表儿茶素没食子酸酯（ECG）是一种天然多酚化合物，已被证明对心脏发育具有保护作用：在这项研究中，我们以斑马鱼胚胎为模型，研究了表儿茶素是否能减轻环丙地尼所诱发的心脏缺陷。将斑马鱼胚胎暴露于含或不含心电图的环丙地尼中：结果：我们的研究结果表明，心电图能明显改善环丙地尼诱导的斑马鱼胚胎存活率、胚胎运动和孵化延迟。此外，心电图还能有效改善环丙地尼诱导的心脏发育毒性，包括心包畸形和心脏功能损害。从机理上讲，ECG可减轻环丙地尼诱导的与心脏发育有关的mRNA表达变化，如amhc、vmhc、tbx5和gata4，以及钙离子通道，如ncx1h、atp2a2a和cdh2。此外，还发现心电图抑制了环丙地尼诱导的芳基烃受体（AhR）信号通路的活性：总之，我们的研究结果为心电图通过抑制 AhR 活性对环丙地尼诱导的心脏发育毒性的保护作用提供了证据。这些研究结果有助于更好地理解农药（如环丙地尼）的调控机制和安全使用。

{"title":"(−)-Epicatechin gallate ameliorates cyprodinil-induced cardiac developmental defects through inhibiting aryl hydrocarbon receptor in zebrafish","authors":"Dongqin Huang, Yuchao Su, Mingmei Li, Chengwei Xie, Weibin Hu, Shuxiang Wang, Nanmei Zheng, Jianhui Chen, Yueyun Lin, Weize Cai, Jianjia Xiao, Baojia Chen, Nanping Hu, Fushan Zhou","doi":"10.1002/bdr2.2350","DOIUrl":"10.1002/bdr2.2350","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Cyprodinil is a widely used fungicide with broad-spectrum activity, but it has been associated with cardiac abnormalities. (−)-Epicatechin gallate (ECG), a natural polyphenolic compound, has been shown to possess protective properties in cardiac development.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this study, we investigated whether ECG could mitigate cyprodinil-induced heart defects using zebrafish embryos as a model. Zebrafish embryos were exposed to cyprodinil with or without ECG.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our results demonstrated that ECG significantly improved the survival rate, embryo movement, and hatching delay induced by cyprodinil. Furthermore, ECG effectively ameliorated cyprodinil-induced cardiac developmental toxicity, including pericardial anomaly and impairment of cardiac function. Mechanistically, ECG attenuated the cyprodinil-induced alterations in mRNA expression related to cardiac development, such as <i>amhc</i>, <i>vmhc</i>, <i>tbx5</i>, and <i>gata4</i>, as well as calcium ion channels, such as <i>ncx1h</i>, <i>atp2a2a</i>, and <i>cdh2</i>. Additionally, ECG was found to inhibit the activity of the aryl hydrocarbon receptor (AhR) signaling pathways induced by cyprodinil.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In conclusion, our findings provide evidence for the protective effects of ECG against cyprodinil-induced cardiac developmental toxicity, mediated through the inhibition of AhR activity. These findings contribute to a better understanding of the regulatory mechanisms and safe utilization of pesticide, such as cyprodinil.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140956193","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

Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects MTHFR（C677T、A1298C）和 MTRR A66G 多态性与脂肪酸谱和神经管畸形风险的关系。

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-05-08 DOI: 10.1002/bdr2.2333

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

Objective

This study aims to determine if 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and methionine synthase reductase (MTRR A66G) gene polymorphisms were associated with fatty acid (FA) levels in mothers of fetuses with neural tube defects (NTDs) and whether these associations were modified by environmental factors.

Methods

Plasma FA composition was assessed using capillary gas chromatography. Concentrations of studied FA were compared between 42 mothers of NTDs fetuses and 30 controls as a function of each polymorphism by the Kruskal–Wallis nonparametric test.

Results

In MTHFR gene C677T polymorphism, cases with (CT + TT) genotype had lower monounsaturated FAs (MUFA) and omega-3 polyunsaturated FA (n-3 PUFA) levels, but higher omega-6 polyunsaturated FAs (n-6 PUFA) and omega-6 polyunsaturated FAs: omega-3 polyunsaturated FAs (n-6:n-3) ratio levels. In MTRR gene A66G polymorphism, cases with (AG + GG) genotype had lower MUFA levels, but higher PUFA and n-6 PUFA levels. Controls with (AG + GG) genotype had lower n-6 PUFA levels. In MTHFR gene C677T polymorphism, cases with smoking spouses and (CT + TT) genotype had lower MUFA and n-3 PUFA levels, but higher PUFA, n-6 PUFA, and n-6:n-3 ratio levels. Cases with (CT + TT) genotype and who used sauna during pregnancy had lower n-3 PUFA levels. In MTRR gene A66G polymorphism, cases with (AG + GG) genotype and who used sauna during pregnancy had higher PUFA and n-6 PUFA levels.

Conclusions

Further research is required to clarify the association of FA metabolism and (MTHFR, MTRR) polymorphisms with NTDs.

研究目的本研究旨在确定5,10-亚甲基四氢叶酸还原酶（MTHFR C677T和A1298C）和蛋氨酸合成酶还原酶（MTRR A66G）基因多态性是否与神经管缺陷（NTD）胎儿母亲体内的脂肪酸（FA）水平有关，以及这些关联是否会因环境因素而改变：方法：使用毛细管气相色谱法评估血浆中的脂肪酸组成。通过 Kruskal-Wallis 非参数检验，比较了 42 位 NTD 胎儿母亲和 30 位对照组之间所研究的 FA 浓度与每种多态性的关系：结果：在MTHFR基因C677T多态性中，基因型为（CT + TT）的病例的单不饱和脂肪酸（MUFA）和ω-3多不饱和脂肪酸（n-3 PUFA）水平较低，但ω-6多不饱和脂肪酸（n-6 PUFA）和ω-6多不饱和脂肪酸：ω-3多不饱和脂肪酸（n-6:n-3）比率水平较高。在 MTRR 基因 A66G 多态性中，基因型为（AG + GG）的病例的 MUFA 含量较低，但 PUFA 和 n-6 PUFA 含量较高。基因型为（AG + GG）的对照组 n-6 PUFA 含量较低。在 MTHFR 基因 C677T 多态性方面，配偶吸烟且基因型为（CT + TT）的病例的 MUFA 和 n-3 PUFA 水平较低，但 PUFA、n-6 PUFA 和 n-6:n-3 比率水平较高。基因型为（CT + TT）且在孕期使用桑拿浴的病例的 n-3 PUFA 水平较低。在 MTRR 基因 A66G 多态性中，基因型为（AG + GG）且在孕期使用桑拿浴的病例的 PUFA 和 n-6 PUFA 水平较高：需要进一步研究以明确脂肪酸代谢和（MTHFR、MTRR）多态性与 NTD 的关系。

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引用次数: 0

Reversible effects on female rat fertility with abrocitinib, a Janus kinase 1 inhibitor Janus 激酶 1 抑制剂阿罗西替尼对雌鼠生育能力的可逆影响

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-05-08 DOI: 10.1002/bdr2.2345

Christopher J. Bowman, Sarah N. Campion, Natasha R. Catlin, William S. Nowland, Christine M. Stethem, Zaher A. Radi, Gregg D. Cappon

Background

Abrocitinib is a Janus kinase (JAK) 1 selective inhibitor approved for the treatment of atopic dermatitis. Female reproductive tissues were unaffected in general toxicity studies, but an initial female rat fertility study resulted in adverse effects at all doses evaluated. A second rat fertility study was conducted to evaluate lower doses and potential for recovery.

Methods

This second study had 4 groups of 20 females each administered abrocitinib (0, 3, 10, or 70 mg/kg/day) 2 weeks prior to cohabitation through gestation day (GD) 7. In addition, 2 groups of 20 rats (0 or 70 mg/kg/day) were dosed for 3 weeks followed by a 4-week recovery period before mating. All mated females were evaluated on GD 14.

Results

No effects were observed at ≤10 mg/kg/day. At 70 mg/kg/day (29x human exposure), decreased pregnancy rate, implantation sites, and viable embryos were observed. All these effects reversed 4 weeks after the last dose.

Conclusions

Based on these data and literature on the potential role of JAK signaling in implantation, we hypothesize that these effects may be related to JAK1 inhibition and, generally, that peri-implantation effects such as these, in the absence of cycling or microscopic changes in nonpregnant female reproductive tissues, are anticipated to be reversible.

背景介绍阿罗西替尼是一种 Janus 激酶 (JAK) 1 选择性抑制剂，已被批准用于治疗特应性皮炎。在一般毒性研究中，雌性生殖组织未受影响，但在最初的雌性大鼠生育力研究中，在所有评估剂量下都出现了不良反应。我们进行了第二次大鼠生育力研究，以评估较低剂量和恢复的可能性：在第二次研究中，4 组 20 只雌性大鼠在同居前 2 周至妊娠第 7 天分别服用阿罗西替尼（0、3、10 或 70 毫克/千克/天）。此外，2 组 20 只大鼠（0 或 70 毫克/千克/天）连续用药 3 周，然后在交配前经过 4 周的恢复期。所有交配的雌性大鼠均在广东十一选五期第 14 天接受评估：结果：当剂量≤10 毫克/千克/天时，未观察到任何影响。当剂量为 70 毫克/千克/天（人体接触量的 29 倍）时，妊娠率、着床部位和存活胚胎均有所下降。最后一次用药 4 周后，所有这些影响都会逆转：根据这些数据以及有关 JAK 信号在植入过程中的潜在作用的文献，我们推测这些影响可能与 JAK1 抑制有关，而且一般来说，在非妊娠女性生殖组织没有发生周期性或微观变化的情况下，这些植入周围影响预计是可逆的。

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引用次数: 0

Children with Hirschsprung's disease have high morbidity in the first 5 years of life 患赫氏菌病的儿童在出生后的头 5 年发病率很高

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-05-07 DOI: 10.1002/bdr2.2338

Mads Damkjær, Joachim Tan, Joan K. Morris, Maria Loane, Joanne Given, Clara Cavero-Carbonell, Mika Gissler, Amanda J. Neville, Anna Pierini, Anke Rissmann, David Tucker, Ester Garne

Background

Hirschsprung's disease is a rare congenital anomaly of the colon with absence of the ganglionic nerve cells. The treatment of the anomaly is surgical.

Methods

This population-based data-linkage cohort study was part of the EUROlinkCAT project and investigated mortality and morbidity for the first 5 years of life for European children diagnosed with Hirschsprung's disease. Nine population-based registries in five countries from the European surveillance of congenital anomalies network (EUROCAT) participated. Data on children born 1995–2014 and diagnosed with Hirschsprung's disease were linked to hospital databases. All analyses were adjusted for region and length of follow-up, which differed by registry.

Results

The study included 680 children with Hirschsprung's disease. One-year survival was 97.7% (95% CI: 96.4–98.7). Overall, 85% (82–87) had a code for a specified intestinal surgery within the first year increasing to 92% (90–94) before age 5 years. The median age at the first intestinal surgery up to 5 years was 28 days (11–46) and the median number of intestinal surgical procedures was 3.5 (3.1–3.9). Thirty days mortality after neonatal surgery (within 28 days after birth) was 0.9% (0.2–2.5) for children with a code for intestinal surgery within the first 28 days after birth and there were no deaths for children with a code for stoma surgery in the neonatal period.

Conclusion

Children with Hirschsprung's disease have a high morbidity in the first 5 years of life requiring more surgical procedures in addition to the initial surgery. Mortality after neonatal surgery is low.

背景赫氏病是一种罕见的结肠神经节细胞缺失的先天性畸形。这种异常的治疗方法是手术。方法这项基于人口的数据链接队列研究是 EUROlinkCAT 项目的一部分，它调查了被诊断患有赫氏普隆氏病的欧洲儿童在出生后前 5 年的死亡率和发病率。欧洲先天性畸形监测网络（EUROCAT）的五个国家的九个人口登记处参与了这项研究。1995-2014年出生并确诊患有赫氏包虫病的儿童数据与医院数据库进行了链接。所有分析均根据地区和随访时间进行了调整，不同登记处的地区和随访时间有所不同。结果该研究共纳入了 680 名赫氏菌病患儿。一年生存率为 97.7%（95% CI：96.4-98.7）。总体而言，85%（82-87%）的患儿在第一年内接受过指定的肠道手术，5 岁前这一比例上升到 92%（90-94%）。5 岁前首次肠道手术的中位年龄为 28 天（11-46），肠道手术的中位次数为 3.5 次（3.1-3.9）。新生儿手术后 30 天（出生后 28 天内）的死亡率为 0.9%（0.2-2.5），在出生后 28 天内进行肠道手术的患儿死亡率为 0.9%（0.2-2.5），而在新生儿期进行造口手术的患儿死亡率为 0.9%（0.2-2.5）。结论患有赫氏普隆氏病的儿童在出生后的头 5 年发病率较高，除了初次手术外还需要进行更多的外科手术。新生儿手术后的死亡率较低。

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引用次数: 0

Response to Dr. Wise and Dr. DeSesso's comments on “Maternal–fetal safety evaluation of an aqueous extract of Casearia sylvestris leaves in rats” 对 Wise 博士和 DeSesso 博士就 "对大鼠进行的茜草叶水提取物母胎安全性评估 "发表的评论的回应

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-05-06 DOI: 10.1002/bdr2.2341

Arielle Cristina Arena, Livia Trippe Nagaoka, Barbara de Campos Jorge

引用次数: 0

A global update on the status of prevention of folic acid-preventable spina bifida and anencephaly in year 2022 2022 年叶酸可预防脊柱裂和无脑畸形的全球最新预防状况

IF 2.1 4区医学 Q1 Medicine

Birth Defects Research

Pub Date : 2024-04-30 DOI: 10.1002/bdr2.2343

Kaustubh Wagh, Vijaya Kancherla, Amanda Dorsey, Helena Pachón, Godfrey P. Oakley Jr

Background

Mandatory fortification of staple foods with folic acid is an effective public health strategy to prevent folic acid-preventable spina bifida and anencephaly (FAP SBA). We estimated the global proportion of FAP SBA prevented through mandatory folic acid fortification of cereal grains (i.e., wheat flour, maize flour, and rice).

Methods

We used year 2022 data from the Food Fortification Initiative to identify countries (n = 69) with mandatory fortification of grains that includes folic acid. Sixty-eight countries were eligible for analysis with complete data. Proportion of FAP SBA prevention was modeled assuming >150 mcg/day of folic acid fortification protects against FAP SBA, reducing post-fortification prevalence to a lowest achievable level of 0.5 cases per 1000 births.

Results

Our analysis found that a total of 63,520 cases of FAP SBA were prevented in the year 2022 in 68 countries implementing mandatory folic acid fortification of grains with folic acid. This translated to a 23.7% prevention of all possible FAP SBA prevention globally. An excess of 204,430 cases of FAPSBA still occurred in over 100 countries where mandatory staple food fortification with folic acid is not implemented.

Conclusion

Our study showed that only a quarter of all FAP SBA cases were averted through mandatory folic acid fortification in the year 2022; many countries are not implementing the policy, resulting in a large proportion of FAP SBA cases that can be prevented. Fortification will help countries with achieving 2030 Sustainable Development Goals on neonatal- and under-five mortality, disability, stillbirths, and elective terminations prevention, from FAP SBA.

背景强制在主食中添加叶酸是预防可通过叶酸预防的脊柱裂和无脑畸形（FAP SBA）的有效公共卫生策略。我们估算了通过在谷物（即小麦粉、玉米粉和大米）中强制添加叶酸可预防脊柱裂和无脑畸形的全球比例。方法我们利用食品营养强化计划（Food Fortification Initiative）提供的 2022 年数据，确定了强制在谷物中添加叶酸营养强化剂的国家（n = 69）。有 68 个国家符合分析条件，并提供了完整的数据。假定每天 150 微克的叶酸强化可预防 FAP SBA，将强化后的发病率降至每 1000 例新生儿中 0.5 例的最低水平。结果我们的分析发现，在实施叶酸强化谷物的 68 个国家中，2022 年共预防了 63,520 例肥胖症 SBA。这相当于在全球范围内预防了 23.7% 的急性膀胱炎。在 100 多个未实施强制主食叶酸强化的国家中，仍有 204,430 例过量的 FAPSBA 病例发生。结论我们的研究表明，到 2022 年，通过强制叶酸强化仅能避免四分之一的 FAP SBA 病例；许多国家并未实施该政策，导致很大一部分 FAP SBA 病例是可以预防的。强化叶酸将有助于各国实现 2030 年可持续发展目标，即预防新生儿和五岁以下儿童死亡、残疾、死胎和非自愿终止妊娠。

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