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Alteration of Cytokine/Chemokine Transcript Levels in the Placenta of Humanized Mouse Models Treated Prenatally With Dexamethasone 地塞米松对人源化小鼠胎盘细胞因子/趋化因子转录水平的影响
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2025-07-24 DOI: 10.1002/bdr2.2514
Noriko Nakamura, Kelly Davis, Jalina Moore, Xiaoqing Li, Brian Kwee, Kyung Sung

Background

Dexamethasone (DEX) is used during pregnancies at risk of early delivery or congenital adrenal hyperplasia. DEX exposure is also known to cause placental damage. Although placental cytokines/chemokines protect the fetus and regulate placental development, few studies have examined placental cytokine/chemokine transcript levels in DEX-dosed pregnant mice.

Methods

To examine this, quantitative PCR and histological analysis in humanized mice were performed. Mice were injected once daily for five consecutive days with DEX (5 mg/kg) or saline (0.9%) via the tail vein on gestation days (GDs) 10–14, respectively (n = 3–5). All mice were intravenously injected with human immunoglobulin G (2 mg/kg) on GD14.

Results

No statistically significant changes in maternal body weights by GD 12, absolute or relative placental weights in the dosed group were observed compared to concurrent controls. Fetal weights in the DEX-dosed group were lower than in concurrent controls, and statistically significant changes were observed on GD 18. Necrosis/apoptosis of cytotrophoblasts in the placenta's labyrinth zone was observed in the DEX-dosed dams. The placental transcript levels of interferon lambda receptor 1, interleukin 6, and C-X-C motif chemokine ligand 10 (Cxcl10) were higher in the DEX-dosed than the control group on GDs 15 and 16; the difference of Cxcl10 transcript level was statistically significant (p = 0.016) on GD 16.

Conclusions

Cxcl10 is overexpressed during DEX-induced placental damage in the mouse models, suggesting it as a potential biomarker of placental damage. Further studies are needed to confirm Cxcl10 changes during placental damage induced by other placental toxicants.

背景:地塞米松(DEX)用于有早产或先天性肾上腺增生风险的妊娠。DEX暴露也会导致胎盘损伤。虽然胎盘细胞因子/趋化因子保护胎儿并调节胎盘发育,但很少有研究检测dex剂量妊娠小鼠胎盘细胞因子/趋化因子转录水平。方法对人源化小鼠进行定量PCR和组织学分析。妊娠第10 ~ 14天,小鼠尾静脉分别注射DEX (5 mg/kg)和0.9%生理盐水(n = 3 ~ 5),每天1次,连续5天。所有小鼠于GD14日静脉注射人免疫球蛋白G (2 mg/kg)。结果与同期对照组相比,给药组妊娠第12天产妇体重、绝对或相对胎盘重量均无统计学意义变化。dex给药组胎儿体重低于同期对照组,妊娠第18天胎儿体重变化有统计学意义。dex给药后,胎盘迷宫区细胞滋养细胞出现坏死/凋亡。在GDs 15和16时,dex剂量组胎盘中干扰素受体1、白细胞介素6和C-X-C基序趋化因子配体10 (Cxcl10)的转录水平高于对照组;在妊娠第16天,Cxcl10转录本水平差异有统计学意义(p = 0.016)。结论dexx诱导的胎盘损伤小鼠模型中,Cxcl10过表达,提示其可能是胎盘损伤的潜在生物标志物。需要进一步的研究来证实Cxcl10在其他胎盘毒物引起的胎盘损伤过程中的变化。
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引用次数: 0
Beyond Aggregate Risk: Drug- and Organ-Specific Nuances in Counseling on Antidepressant Teratogenicity 超越总体风险:抗抑郁药物致畸性咨询中药物和器官特异性的细微差别
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2025-07-22 DOI: 10.1002/bdr2.2512
Yu-Chun Tsai, Lien-Chung Wei, Hsien-Jane Chiu
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引用次数: 0
Reply to Correspondence on “Comparison of Perceived Adverse Events After COVID-19 Vaccination Between Pregnant and NonPregnant Women Using Two Cohort Studies in The Netherlands” 回复关于“荷兰两项队列研究中孕妇和非孕妇接种COVID-19疫苗后感知不良事件的比较”的函件
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2025-07-18 DOI: 10.1002/bdr2.2511
Petra J. Woestenberg, Florence van Hunsel, Veronique Y. F. Maas
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引用次数: 0
Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models 神经管缺陷患者和家族的靶向重测序从动物模型中确定候选基因的罕见变异
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2025-07-17 DOI: 10.1002/bdr2.2507
Ferruccio Romano, Patrizia De Marco, Marzia Ognibene, Michele Iacomino, Marco Di Duca, Irene Schiavetti, Marcello Scala, Marco Pavanello, Gianluca Piatelli, Valeria Capra

Background/Objectives

Neural tube defects (NTDs) are congenital malformations arising when the neural tube (NT), precursor of the brain and spine, fails to properly close during neurulation. Etiology is multifactorial, with environmental and genetic factors variably contributing on a case-by-case basis. Molecular genetic studies of murine NTD genes have been precious in the identification of predisposing NTD genes in humans, highlighting the peculiar role of the planar cell polarity (PCP) pathway in a fraction of human NTD patients.

Methods

Seventy-eight patients with NTD treated at a pediatric tertiary care center were selected for genetic analysis. A custom next-generation sequencing (NGS) panel of 29 genes encoding for components of the core PCP pathway or for family members and paralogs of proteins (including SHROOM and GRHL) underlying NTDs in well-known animal models was used to re-sequence patients with NTD. A gene-burden analysis was also performed to assess potential enrichment of rare damaging variants in the NTD cohort compared to ethnically matched controls.

Results

Thirty-nine of 78 individuals (50%) presented with at least one putatively damaging rare variant, most of which (87%) were missense substitutions. Rare variants of GRHL1 and WNT5A, and among gene families GRHL and SHROOM, were significantly enriched in the patients' cohort compared to controls.

Conclusion

This study supports the involvement of human orthologues of mouse genes in human NTD phenotypes. Further re-sequencing or, even better, whole-exome sequencing of a large group of cases will give the clues for a better understanding of NTD etiology, ameliorating the clinical management of patients and their families.

背景/目的神经管缺损(NTDs)是神经管(脑和脊柱的前体)在神经发育过程中未能正常闭合而引起的先天性畸形。病因是多因素的,环境和遗传因素在个案基础上有不同的贡献。小鼠NTD基因的分子遗传学研究在鉴定人类NTD易感基因方面具有重要意义,突出了平面细胞极性(PCP)途径在部分人类NTD患者中的特殊作用。方法选取某儿科三级保健中心收治的78例NTD患者进行遗传分析。一个定制的下一代测序(NGS)面板包含29个基因,这些基因编码核心PCP通路的组成部分,或编码NTD基础动物模型中的家族成员和类似蛋白(包括SHROOM和GRHL),用于对NTD患者进行重测序。还进行了基因负担分析,以评估与种族匹配对照相比,NTD队列中罕见破坏性变异的潜在富集程度。结果78例个体中有39例(50%)存在至少一种推定有害的罕见变异,其中大多数(87%)为错义替换。与对照组相比,GRHL1和WNT5A的罕见变异以及GRHL和SHROOM基因家族在患者队列中显著富集。结论本研究支持小鼠基因的人类同源物参与人类NTD表型。进一步对大量病例进行重新测序,甚至更好地进行全外显子组测序,将为更好地了解NTD病因提供线索,改善患者及其家属的临床管理。
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引用次数: 0
Association Between Prenatal Exposure to Traffic-Related Air Pollution and Orofacial Clefts Among Newborns in New York State, Excluding New York City (2000–2019) 2000-2019年纽约州(不包括纽约市)新生儿产前暴露于交通相关空气污染与口面部裂的关系
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2025-07-16 DOI: 10.1002/bdr2.2503
Douglas Done, Michele Herdt, Tabassum Z. Insaf, Beth Feingold, Akiko Hosler

Background

Prenatal exposure to tobacco smoke is strongly associated with the development of orofacial clefts. Traffic-related air pollution (TRAP) has many of the same toxic combustion byproducts as burning tobacco, such as benzene and PM2.5, and may therefore act through similar pathways to cause harm to developing fetuses. Since concentrations of TRAP are highest close to the roadway, they can be assessed using distance-weighted traffic density (DWTD).

Methods

A case–control study of birthing parent–newborn pairs was conducted among children born between January 1, 2000, and December 31, 2019, to people residing in New York State (NYS), excluding New York City. Cases of cleft lip alone, cleft palate alone, and cleft lip with cleft palate were identified from the NYS Birth Defects Registry. Orofacial clefts were also analyzed as an aggregated group. Controls without diagnosed major birth defects were randomly selected from hospital discharge records. DWTD measured in vehicles per day (VPD) was calculated from NYS Department of Transportation traffic data. A multivariate logistic regression model, adjusted for the birthing parent's age, race, ethnicity, and census tract-level disadvantage, was constructed to evaluate the association between orofacial clefts and DWTD.

Results

There was a statistically significant adjusted odds ratio (aOR) comparing the DWTD ≥ 500 VPD group to the DWTD reference group (< 500 VPD) found only among orofacial clefts as an aggregate group (aOR = 1.13 [1.04–1.22]).

Conclusions

The current study, covering 20 years of case collection, generally supports the DWTD's potential risk for orofacial clefts. Larger observational studies are warranted to further investigate associations between DWTD and individual categories of orofacial clefts.

背景产前暴露于烟草烟雾与口面部裂的发展密切相关。与交通有关的空气污染(TRAP)具有许多与燃烧烟草相同的有毒燃烧副产品,如苯和PM2.5,因此可能通过类似的途径对发育中的胎儿造成伤害。由于TRAP浓度在靠近道路的地方最高,因此可以使用距离加权交通密度(DWTD)来评估它们。方法对2000年1月1日至2019年12月31日期间在纽约州(不包括纽约市)出生的儿童进行分娩父母-新生儿对的病例对照研究。唇裂、腭裂和唇裂合并腭裂的病例均从纽约出生缺陷登记处进行鉴定。口面裂隙也作为一个综合组进行分析。没有诊断出重大出生缺陷的对照组从出院记录中随机选择。以每天车辆计算的DWTD (VPD)是根据纽约运输部的交通数据计算的。构建了一个多变量logistic回归模型,调整了出生父母的年龄、种族、民族和人口普查水平上的劣势,以评估口面部裂与DWTD之间的关系。结果DWTD≥500 VPD组与DWTD参照组(< 500 VPD)的校正优势比(aOR)仅在唇腭裂合并组中有统计学意义(aOR = 1.13[1.04-1.22])。结论:目前的研究涵盖了20年的病例收集,总体上支持DWTD对唇腭裂的潜在风险。更大规模的观察性研究是必要的,以进一步调查DWTD与个别类别的口面部唇裂之间的关系。
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引用次数: 0
Teratogenic Effects of Serotonin Receptor 2B Disruption on the Migration and Cardiac Derivatives of the Cardiac Neural Crest 5 -羟色胺受体2B干扰对心脏神经嵴迁移和心脏衍生物的致畸作用
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2025-07-16 DOI: 10.1002/bdr2.2506
Brian K. Wells, Gwyneth K. Garramone, Amira Mahomed, Max Ezin

Background

Cardiac neural crest cells (cNCCs) are critical for heart development, and their disruption can result in congenital heart defects. Serotonin (5-HT) signaling, specifically via 5-HT2B and 5-HT2C receptors, regulates diverse physiological processes, including neural crest migration. This study investigates how modulation of 5-HT2B and 5-HT2C receptor activity impacts cNCC migration and the development of their derivatives, with relevance to serotonergic drug safety during pregnancy.

Methods

Chicken embryos at HH8 were treated with 50 μL of 20 μM 1-Methylpsilocin (1-MP), an inverse agonist of 5-HT2B and agonist of 5-HT2C, and collected at HH14 to assess cNCC migration. Embryos were pre-treated with SB242084, a selective 5-HT2C antagonist, to isolate receptor-specific contributions before 1-MP application. Phenotypic outcomes were assessed at HH32 and HH36 for structural heart defects.

Results

1-MP disrupted cNCC migration at HH14, evidenced by abnormal shortening of the circumpharyngeal neural crest (CirNCC) stream. Pre-treatment with SB242084 did not rescue the phenotype, implicating 5-HT2B as the primary driver, though potential contributions from 5-HT2C cannot be excluded. At HH32, 1-MP-treated embryos displayed gaps in the aorticopulmonary septum. By HH36, interventricular septal defects and delayed development further supported the role of 5-HT2B in cNCC migration and differentiation.

Conclusion

These findings reveal that 5-HT2B receptor activity is critical for cNCC migration and heart development. They underscore the potential teratogenic risks of serotonergic drugs targeting 5-HT2B/5-HT2C receptors during pregnancy, with implications for drug safety and heart morphogenesis.

心脏神经嵴细胞(cNCCs)对心脏发育至关重要,它们的破坏可导致先天性心脏缺陷。5-羟色胺(5-HT)信号,特别是通过5-HT2B和5-HT2C受体,调节多种生理过程,包括神经嵴迁移。本研究探讨了5-HT2B和5-HT2C受体活性的调节如何影响cNCC迁移及其衍生物的发展,并与妊娠期间血清素能药物的安全性相关。方法用50 μL的5-HT2B和5-HT2C拮抗剂1-甲基硅油素(1-MP)处理HH8期的鸡胚,收集HH14期的鸡胚,观察cNCC的迁移情况。胚胎用选择性5-HT2C拮抗剂SB242084预处理,在1-MP应用前分离受体特异性贡献。以HH32和HH36评估结构性心脏缺陷的表型结果。结果1-MP阻断了HH14时cNCC的迁移,表现为环咽神经嵴(CirNCC)流异常缩短。用SB242084预处理并没有挽救表型,这意味着5-HT2B是主要驱动因素,尽管不能排除5-HT2C的潜在贡献。在HH32时,1- mp处理的胚胎在主动脉肺隔中出现间隙。通过HH36,室间隔缺损和延迟发育进一步支持5-HT2B在cNCC迁移和分化中的作用。结论5-HT2B受体活性在cNCC迁移和心脏发育中起重要作用。他们强调了靶向5-HT2B/5-HT2C受体的5-羟色胺能药物在妊娠期间的潜在致畸风险,以及对药物安全性和心脏形态发生的影响。
{"title":"Teratogenic Effects of Serotonin Receptor 2B Disruption on the Migration and Cardiac Derivatives of the Cardiac Neural Crest","authors":"Brian K. Wells,&nbsp;Gwyneth K. Garramone,&nbsp;Amira Mahomed,&nbsp;Max Ezin","doi":"10.1002/bdr2.2506","DOIUrl":"https://doi.org/10.1002/bdr2.2506","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Cardiac neural crest cells (cNCCs) are critical for heart development, and their disruption can result in congenital heart defects. Serotonin (5-HT) signaling, specifically via 5-HT2B and 5-HT2C receptors, regulates diverse physiological processes, including neural crest migration. This study investigates how modulation of 5-HT2B and 5-HT2C receptor activity impacts cNCC migration and the development of their derivatives, with relevance to serotonergic drug safety during pregnancy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Chicken embryos at HH8 were treated with 50 μL of 20 μM 1-Methylpsilocin (1-MP), an inverse agonist of 5-HT2B and agonist of 5-HT2C, and collected at HH14 to assess cNCC migration. Embryos were pre-treated with SB242084, a selective 5-HT2C antagonist, to isolate receptor-specific contributions before 1-MP application. Phenotypic outcomes were assessed at HH32 and HH36 for structural heart defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>1-MP disrupted cNCC migration at HH14, evidenced by abnormal shortening of the circumpharyngeal neural crest (CirNCC) stream. Pre-treatment with SB242084 did not rescue the phenotype, implicating 5-HT2B as the primary driver, though potential contributions from 5-HT2C cannot be excluded. At HH32, 1-MP-treated embryos displayed gaps in the aorticopulmonary septum. By HH36, interventricular septal defects and delayed development further supported the role of 5-HT2B in cNCC migration and differentiation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These findings reveal that 5-HT2B receptor activity is critical for cNCC migration and heart development. They underscore the potential teratogenic risks of serotonergic drugs targeting 5-HT2B/5-HT2C receptors during pregnancy, with implications for drug safety and heart morphogenesis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2506","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144635137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Brain Weight Effect of Ambrisentan in Juvenile Rat Toxicity Studies Associated With Breathing Sounds, Apnea, and Sustained Hypoxemia 在与呼吸音、呼吸暂停和持续低氧血症相关的幼年大鼠毒性研究中,氨布里森坦对脑重量的影响
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2025-07-12 DOI: 10.1002/bdr2.2504
Susan B. Laffan, Kohrs Loren, Kambara Takahito, Turner Sandra

Background

Ambrisentan is a selective endothelin-1 receptor antagonist marketed for pulmonary arterial hypertension (PAH) in adults, adolescents, and children above 8 years old.

Method

A juvenile toxicity study conducted to support clinical studies in patients under 8 years old dosed rats from postnatal days 7 to 62. In subsequent investigative studies, respiratory function was assessed by ventilatory parameters and arterial blood gases, along with other endpoints.

Results

Noisy breathing occurred, and brain weight was lower (4%, p < 0.05) without histologic changes at the highest dose (20 mg/kg/day). Respiratory sounds described as clicking noises seemingly synchronous with the breathing cycle were sustained. Hypoxemia and hypercapnia associated with apneic times occurred, suggesting an intermittent physical airway blockade.

Conclusion

It's postulated that the brain weight decrease was mediated by sustained hypoxemia during a period of rapid brain growth. Improper interaction of rat laryngeal tissues, in close apposition during early postnatal stages, may constitute a sensitive period. Clinical relevance is unknown; palatal/laryngeal maturation timing in healthy children supports up to ~2 years as the period for any potential risk. However, for children with PAH, chronic hypoxemia and/or concomitant conditions associated with developmental delay could hypothetically extend the sensitive age period for potential risk through the third year of life.

Ambrisentan是一种选择性内皮素-1受体拮抗剂,用于治疗成人、青少年和8岁以上儿童的肺动脉高压(PAH)。方法以8岁以下大鼠为研究对象,从出生后第7天至第62天给药,进行幼年毒性研究。在随后的调查研究中,通过通气参数和动脉血气以及其他终点来评估呼吸功能。结果在最高剂量组(20mg /kg/d)出现嘈杂呼吸,脑质量降低(4%,p < 0.05),无组织学改变。呼吸的声音被描述为似乎与呼吸周期同步的咔哒声。低氧血症和高碳酸血症与呼吸暂停时间相关,提示间歇性的物理气道阻塞。结论脑重下降可能与脑快速生长期持续低氧血症有关。大鼠喉部组织不适当的相互作用,在出生后早期紧密结合,可能构成敏感期。临床相关性尚不清楚;健康儿童的腭/喉成熟时间最长可达2年,可作为任何潜在风险的时期。然而,对于患有多环芳烃的儿童,慢性低氧血症和/或与发育迟缓相关的伴随条件可能会延长潜在风险的敏感年龄期,直至生命的第三年。
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引用次数: 0
Correction to “How Does Maternal Lipopolysaccharide Exposure Impact Prenatal Testicular Development in Rats, and Could α-Tocopherol Provide a Protective Effect? A Histological, Immunohistochemical and Biochemical Study” 更正“母体脂多糖暴露如何影响大鼠产前睾丸发育,α-生育酚是否有保护作用?”组织学、免疫组化和生化研究
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2025-07-12 DOI: 10.1002/bdr2.2502

Fareed, S. A., H. E.-S. Mostafa, Y. M. Saleh, Y. I. Magdi, and I. M. M. Ammar. 2025. “How Does Maternal Lipopolysaccharide Exposure Impact Prenatal Testicular Development in Rats, and Could α-Tocopherol Provide a Protective Effect? A Histological, Immunohistochemical and Biochemical Study.” Birth Defects Research 117: e2469. https://doi.org/10.1002/bdr2.2469.

In the originally published article, the following sentence in the Abstract is incorrect:

“Forty pregnant female rats were divided into four groups. Group I (control) included a negative control receiving normal saline and a positive control receiving 30 mg/kg of α-tocopherol intraperitoneally from the 3rd to 18th gestational day.”

The correct sentence is:

“Forty pregnant female rats were divided into three groups. Group I (control) was divided into two subgroups: Group Ia (negative control; receiving normal saline) and Group Ib (positive control; receiving 30 mg/kg of α-tocopherol intraperitoneally from the 3rd to 18th gestational day).”

In the Animals and Experimental Procedures section of the Materials and Methods section the following sentences are incorrect. They are presented below with the correct sentences.

Incorrect: “The pregnant rats were divided into four groups (10 pregnant rats for each) as follows…”

Correct: “The pregnant rats were divided into three groups as follows…”

Incorrect: “Group I (Control groups): Divided into two subgroups as follows (n = 5)…”

Correct: “Group I (Control groups): Divided into two subgroups as follows (n = 10 for each subgroup):”

Group II (LPS group)” was omitted from the following sentence: “Group II (LPS group, n = 10 rats)…”

“Group III (α-T + LPS, protected group)” was omitted from the following sentence: “Group III (α-T + LPS, protected group, n = 10 rats)…”

We apologize for these errors.

法里德,美国,美国,美国。穆斯塔法,Y. M. Saleh, Y. I. Magdi,和I. M. Ammar, 2025。母体脂多糖暴露如何影响大鼠产前睾丸发育,α-生育酚是否有保护作用?组织学,免疫组织化学和生化研究。”出生缺陷研究117:e2469。在原来发表的文章https://doi.org/10.1002/bdr2.2469.In中,摘要中的以下句子是不正确的:“将40只怀孕的雌性大鼠分为四组。ⅰ组(对照组)为阴性对照组,从妊娠第3 ~ 18天开始腹腔注射生理盐水,阳性对照组注射30 mg/kg α-生育酚。正确的句子是:“40只怀孕的雌性老鼠被分成三组。I组(对照组)分为2个亚组:Ia组(阴性对照组);Ib组(阳性对照;妊娠第3 ~ 18天腹腔注射α-生育酚30 mg/kg。在材料和方法部分的动物和实验程序部分,以下句子是错误的。下面给出了正确的句子。错误:“怀孕大鼠分为四组(每组10只怀孕大鼠),如下…”正确:“怀孕大鼠分为三组,如下…”错误:“第一组(对照组):分为两个亚组,如下(n = 5)…”正确:“第一组(对照组):分为两个亚组,如下(n = 10).”以下句子省略了“第二组(LPS组)”“III组(α-T + LPS,保护组,n = 10只大鼠)……”中省略了“III组(α-T + LPS,保护组,n = 10只大鼠)……”
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引用次数: 0
Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype–Phenotype Correlation 微阵列在新生儿多重先天性异常中的应用:基因型-表型相关性
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2025-07-12 DOI: 10.1002/bdr2.2509
Ramazan Keçeci, Hayriye Nermin Keçeci, Müşerref Başdemirci

Background

Microarray is considered the first step in the diagnostic test in patients with multiple congenital anomalies (MCA). This technique can detect small copy number variations (CNVs) in DNA and help to understand the genetic causes in newborns.

Materials & Methods

The present study investigated a group of 63 newborns with MCA during the study period. Microarray analysis was performed on newborns with MCA after excluding those with examination results suggesting a recognizable numerical chromosome anomaly and a history of teratogenicity. The observed CNVs were examined in databases, pathogenicity evaluation was performed, and the variations were compared with the results reported in the patient database.

Results

A total of 11 of 50 patients (22%) included in the study had 13 CNVs. Variations in the literature were observed in nine of the previously described cases, while the other four CNVs were described for the first time. Among the detected CNVs, nine were pathogenic, one was likely pathogenic, and three were of uncertain clinical significance (VOUS). The variation in four patients was de novo, two were paternally inherited, and one was maternally inherited. All 11 patients with CNVs had congenital heart defects, 9 had craniofacial dysmorphism, 8 had extremity anomalies, 4 had hydronephrosis, 3 had cleft lip and/or palate, 2 had proximal hypospadias, and other rare congenital anomalies.

Conclusion

Microarray application in newborns with MCA is of great importance in terms of clinical guidance and genetic counseling. With the increase in relevant studies, the interpretation of previously unidentified CNVs with clinical results will contribute to patient management.

微阵列被认为是诊断多发性先天性异常(MCA)患者的第一步。这项技术可以检测DNA中的小拷贝数变异(CNVs),并有助于了解新生儿的遗传原因。材料,方法在研究期间对63例新生儿MCA进行调查。在排除检查结果显示可识别的数字染色体异常和致畸史的MCA新生儿后,对其进行微阵列分析。在数据库中检查观察到的CNVs,进行致病性评估,并将变异与患者数据库中报告的结果进行比较。结果纳入研究的50例患者中有11例(22%)有13个CNVs。在先前描述的9例病例中观察到文献中的差异,而其他4例CNVs是首次描述。在检测到的CNVs中,9个为致病性,1个可能致病性,3个临床意义不确定(VOUS)。4例患者的变异是从头开始的,2例是父系遗传,1例是母系遗传。11例CNVs患者均有先天性心脏缺陷,9例颅面畸形,8例四肢畸形,4例肾积水,3例唇裂和/或腭裂,2例近端尿道下裂,以及其他罕见的先天性异常。结论微阵列技术应用于新生儿MCA的临床指导和遗传咨询具有重要意义。随着相关研究的增加,对先前未识别的CNVs进行临床结果解释将有助于患者管理。
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引用次数: 0
Correction to Food Fortification Ineffective in Preventing Neural Tube Defects in India due to Regulation Promoting Inadequate Levels of Folic Acid and Vitamin B12 修正食品强化在预防神经管缺陷方面的无效,原因是监管促进叶酸和维生素B12水平不足
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2025-07-11 DOI: 10.1002/bdr2.2510

Kancherla, V., P. Bhalla, S. K. Dutta, R. Mehta, R. M. Vora, and S. Karmarkar. 2025. “Food Fortification Ineffective in Preventing Neural Tube Defects in India due to Regulation Promoting Inadequate Levels of Folic Acid and Vitamin B12.” Birth Defects Research 117, no. 7: e2498. https://doi.org/10.1002/bdr2.2498.

In the originally published article, an incorrect unit of measurement was given in Section 1. The corrected unit is given below. This has been corrected in the online version of the article.

Incorrect

The 2020 RDA proposed for vitamin B12 ranges between 1.2 and 2.5 mg for non-pregnant women, children, and men (FSSAI 2021).

Correct

The 2020 RDA proposed for vitamin B12 ranges between 1.2 and 2.5 mcg for non-pregnant women, children, and men (FSSAI 2021).

We apologize for this error.

Kancherla, V., P. Bhalla, S. K. Dutta, R. Mehta, R. M. Vora和S. Karmarkar, 2025。“在印度,由于监管规定导致叶酸和维生素B12水平不足,食品强化在预防神经管缺陷方面无效。”出生缺陷研究117,no。7: e2498。https://doi.org/10.1002/bdr2.2498.In在最初发表的文章中,第1节给出了一个错误的度量单位。修正后的单位如下所示。这在文章的在线版本中已被更正。对于非孕妇、儿童和男性,2020年推荐的维生素B12日摄食量在1.2 - 2.5毫克之间(FSSAI 2021)。对非孕妇、儿童和男性,2020年推荐的维生素B12日摄食量在1.2至2.5微克之间(FSSAI 2021)。我们为这个错误道歉。
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Birth Defects Research
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