Birth Defects Research最新文献

{"title":"Climate Change and Pregnancy Outcomes: A Systematic Approach to Reviewing the Data","authors":"Caroline B. Braun,&nbsp;Sonja A. Rasmussen,&nbsp;Denise J. Jamieson","doi":"10.1002/bdr2.2493","DOIUrl":"https://doi.org/10.1002/bdr2.2493","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Increasing evidence is accumulating regarding the effects of climate change on human health. In 2021, the World Health Organization (WHO) identified six exposure pathways through which climate change might affect health: extreme weather events; heat stress; air quality; food safety and security; water quality and quantity; and vector distribution and ecology. We sought to evaluate the climate change-related effects through these pathways on the health of pregnant persons and neonates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Individual PubMed searches were tailored for each WHO climate change exposure pathway based on the quality and quantity of evidence. Searches for heat stress, air quality, food safety and security, and vector distribution and ecology included systematic reviews only, while those for the remaining exposure pathways included broader quantitative study parameters.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Evidence links heat stress, air quality, and vector distribution and ecology to several adverse maternal and neonatal outcomes. While evidence regarding extreme weather events, food safety and security, and water quality and quantity also shows harmful effects on pregnant persons and neonates, the data are less conclusive.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Climate change-related effects detrimentally affect the health of pregnant persons and neonates, but additional research is required to improve understanding of how climate change exerts its effects on these populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144292631","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}

{"title":"Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders","authors":"Özgür Çoğulu,&nbsp;Durdugül Ayyıldız Emecen,&nbsp;Tahir Atik,&nbsp;Esra Işık,&nbsp;Asude Durmaz,&nbsp;Ayça Aykut,&nbsp;Ferda Özkınay","doi":"10.1002/bdr2.2491","DOIUrl":"https://doi.org/10.1002/bdr2.2491","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The PAN2 gene encodes a subunit of a deadenylation complex.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>In this study, we aimed to evaluate the homozygous missense variant detected in the PAN2 gene through whole-exome sequencing analysis in a case with multiple congenital anomalies and neuromotor developmental delay. A 4.5-year-old boy was referred to the pediatric genetics clinic due to multiple congenital anomalies and developmental delay. Due to the inability to determine a preliminary diagnosis with clinical and laboratory findings, whole-exome sequencing was performed on the index case. A novel homozygous missense variant, c.3026T&gt;A (p.Val1009Asp), in the PAN2 (NM_014871.5) gene was detected. The variant was classified as “likely pathogenic” according to the ACMG 2015 criteria.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Recently, biallelic loss-of-function mutations in the PAN2 gene have been identified in several patients with congenital anomalies and neurodevelopmental disorders. In this case, a missense variant in the PAN2 gene is reported as disease-causing for the first time in the literature.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144244706","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}

{"title":"Comparison of Perceived Adverse Events After COVID-19 Vaccination Between Pregnant and NonPregnant Women Using Two Cohort Studies in the Netherlands","authors":"Petra J. Woestenberg,&nbsp;Annika W. Terpstra,&nbsp;Florence van Hunsel,&nbsp;Thomas Lieber,&nbsp;Veronique Y. F. Maas","doi":"10.1002/bdr2.2490","DOIUrl":"https://doi.org/10.1002/bdr2.2490","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Maternal vaccines are upcoming. A clear picture of the adverse events (AEs) after maternal vaccination and whether this is comparable to a nonpregnant population is important. The objective of our study was to compare perceived AEs after COVID-19 vaccination between pregnant and nonpregnant women and to study if it is feasible to compare AEs within two independent Dutch cohort studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from the Dutch Pregnancy Drug Register (DPDR) and the cohort event monitoring (CEM) study on COVID-19 vaccines were used. At least one self-reported (solicited) AE, more than one AE, and specific self-reported AEs after the first doses of an mRNA COVID-19 vaccine were compared between pregnant and nonpregnant women using multivariable logistic regression analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The pattern of AEs was similar between pregnant (<i>n</i> = 2204) and nonpregnant (<i>n</i> = 2684) women, with the four most frequently reported AEs being: injection site reaction, myalgia, fatigue, and headache. Pregnant women reported less often at least one AE compared to nonpregnant women (65.9% vs. 72.3%; adjusted odds ratio [aOR] = 0.78; 95% confidence interval [CI] = 0.67–0.90), more than one AE, or specific AEs: nausea, chills, pyrexia, and arthralgia. Myalgia was more often reported among pregnant women compared to nonpregnant women.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Pregnant women perceived comparable or less often AEs after the first mRNA COVID-19 vaccination compared to nonpregnant women. The results aid pregnant women in making an informed decision about vaccination. A comparison between the pregnancy registry and the CEM study was feasible and this method can be used to compare AEs for other/future maternal vaccines.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2490","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144220006","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}

{"title":"Maternal Prenatal Cannabis Use and Major Structural Birth Defects","authors":"Lyndsay A. Avalos,&nbsp;Sara R. Adams,&nbsp;Stacey E. Alexeeff,&nbsp;Nina R. Oberman,&nbsp;Monique B. Does,&nbsp;Kristin R. Steuerle,&nbsp;Deborah R. Ansley,&nbsp;Carley L. Castellanos,&nbsp;Alisa A. Padon,&nbsp;Lynn D. Silver,&nbsp;Kelly C. Young-Wolff","doi":"10.1002/bdr2.2492","DOIUrl":"https://doi.org/10.1002/bdr2.2492","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We evaluated associations between prenatal cannabis use and major structural birth defects of the child.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This population-based retrospective cohort study comprised singleton births (January 2011–July 2020) universally screened for substance use at entrance to prenatal care. Prenatal cannabis use was defined as self-reported use or a positive toxicology test during pregnancy. Electronic health record and birth certificate data were used to identify 38 specific major structural birth defects within 8 organ systems (i.e., central nervous, eye, ear, cardiac, orofacial/respiratory, gastrointestinal, genitourinary/renal, and musculoskeletal). Modified Poisson regression models were conducted adjusting for propensity scores.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 363,952 infants, 22,494(6.2%) were exposed to maternal prenatal cannabis use, and 6094 infants (2.17%) had a major structural birth defect. Maternal prenatal cannabis use was associated with gastroschisis in the unadjusted (RR = 2.00, 95% CI: 1.25–3.19) and other non-cannabis prenatal substance use (aRR = 1.68; 95% CI: 1.04–2.71) adjusted models, but not in the models adjusted for maternal age or the propensity score. Maternal prenatal cannabis use was associated with omphalocele in the unadjusted model (RR = 3.04; 95% CI: 1.42–6.48), maternal age-adjusted model (aRR = 3.54; 95% CI: 1.68–7.48), other prenatal substance use-adjusted model (aRR = 3.31; 95% CI: 1.50–7.31), and propensity score adjusted model (aRR: 2.92, 95% CI: 1.26–6.77). Cases of gastroschisis and omphalocele were rare: <i>n</i> = 172 (0.05%) and <i>n</i> = 48 (0.01%), respectively. No associations emerged between maternal prenatal cannabis use and any other birth defects. Findings were replicated when cannabis was defined by toxicology testing only.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Maternal prenatal cannabis use was associated with an increased risk for gastroschisis and omphalocele. Clinicians should provide counseling in a supportive manner to pregnant individuals about the potential harms associated with prenatal cannabis use.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144232335","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}

{"title":"Maternal Age-Related Gender Bias in Trisomy 21 and Trisomy 18","authors":"Yun Pan,&nbsp;Changshui Chen,&nbsp;Haibo Li","doi":"10.1002/bdr2.2489","DOIUrl":"https://doi.org/10.1002/bdr2.2489","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Background&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The aim of this study was to investigate the underlying factors contributing to gender-based disparities in the prevalence of trisomy 21 (Downs's syndrome) and trisomy 18 (Edwards's syndrome).&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Overall, 551 cases of trisomy 21 (T21) and 154 cases of trisomy 18 (T18) diagnosed through amniotic fluid karyotyping and chromosomal microarray analysis (CMA) between 2005 and 2023 at the Affiliated Women and Children's Hospital of Ningbo University. The study population consisted of fetuses at 19–23 gestational weeks across various maternal age groups. A control group comprising 662,453 newborns from the same institution between 2011 and 2018 was established for sex ratio comparison. Parental origin of diploids in T21 and T18 cases was determined using quantitative fluorescence-polymerase chain reaction (QF-PCR) analysis. Statistical significance of gender bias was evaluated using chi-squared tests, with a threshold of &lt;i&gt;p&lt;/i&gt; &lt; 0.05 considered statistically significant.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The study revealed distinct sex ratio patterns across different maternal age groups. The control group exhibited a sex ratio of 1.06 (male:female), while the overall sex ratio for T21 cases was significantly elevated at 1.32. Notably, the highest sex ratio (1.84) was observed in T21 cases among women aged 20–25 years, with a progressive decline in sex ratio corresponding to increasing maternal age. The sex ratio of newborns born to women aged ≥ 35 years approximated that of the control. In contrast, T18 cases demonstrated an overall female predominance, with a sex ratio of 0.67, reaching its lowest value (0.56) in the 25–30 years maternal age group. Regarding the parent origin of diploids, maternal meiosis errors accounted for &gt; 90% of cases in both T21 and T18. However, a higher prevalence of paternal origin was observed in younger women (≤ 35 years). Male fetuses of paternal diploid origin of T21 were 2.5 times more than female fetuses.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusion&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;In our sample of over 500,000 births, between 2005 and 2023 in Ningbo, China, fetuses with T21 were more likely to be males while fetuses with T18 were more likely to be females. However, this gender bias exhibited a significant age-dependent pattern, being predominantly observed in women under 35 years of age. Specifically, in T21 cases of paternal origin among women ≤ 35 years, the frequency of nondisjunction involving Y-chromosome-bearing sperm was 2.5-fold higher than","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2489","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144190779","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}

{"title":"Disparities in Birth Defect Related Hospitalization Costs and Length of Stay in the US, 2019","authors":"Ruiqi Cen,&nbsp;Anthony Goudie,&nbsp;Wendy N. Nembhard","doi":"10.1002/bdr2.2486","DOIUrl":"https://doi.org/10.1002/bdr2.2486","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hospitalization costs for individuals with birth defects exceeded $22 billion in the US in 2019. Understanding hospitalization disparities is critical for resource allocation, and studies on this topic are limited.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this cross-sectional study, we identified costs and length of stay from the 2019 National Inpatient Sample data, Healthcare Cost and Utilization Project. Disparities were assessed using age, race/ethnicity, regions, expected primary payer, median household income, rurality, and whether the hospitals were public or private.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 912,570 inpatients under 65 years old with birth defect diagnoses, those who were Black (8.3 days), resided in the South (7.6 days), and had Medicaid (8.3 days) as expected primary payer experienced longer average lengths of stay. Inpatients who were White ($10,287 million dollars), lived in the South ($7347 million dollars), and had Medicaid as the expected primary payer ($9760 million dollars) had higher total medical costs. Hispanic inpatients and those of other racial/ethnic groups ($26,145, $26,836), inpatients in the West ($29,244), as well as among those with “other” as the expected primary payer ($36,665) had higher average medical costs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We observed disparities in birth-defect-related inpatients, with variations in medical costs and average length of stay. Health resources may be more effectively allocated to these groups.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144171773","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}

{"title":"COVID-19 Vaccination During Pregnancy and Birth Defects: Results From the CDC COVID-19 Vaccine Pregnancy Registry, United States 2021–2022","authors":"Andrea J. Sharma,&nbsp;Jennita Reefhuis,&nbsp;Lauren Head Zauche,&nbsp;Sabrina A. Madni,&nbsp;Janet D. Cragan,&nbsp;Cynthia A. Moore,&nbsp;John F. Nahabedian,&nbsp;Christine K. Olson,&nbsp;CDC COVID-19 Vaccine Pregnancy Registry team","doi":"10.1002/bdr2.2474","DOIUrl":"https://doi.org/10.1002/bdr2.2474","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>We calculated prevalences of birth defects among infants of participants in the Centers for Disease Control and Prevention's (CDC) COVID-19 Vaccine Pregnancy Registry (C19VPR).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>C19VPR enrolled women receiving COVID-19 vaccines ≤ 30 days before the last menstrual period or during pregnancy from December 2020 through June 2021. We included 19,931 participants with singleton pregnancies ending ≥ 20 weeks' gestation who did not report COVID-19 illness during pregnancy. Clinicians identified birth defects from participant-reported infant health information up to 4 months after birth. We compared C19VPR birth defect prevalences to published pre-pandemic estimates. For seven defects originating during embryogenesis (cleft lip with/without cleft palate, atrial septal defect, coarctation of the aorta, ventricular septal defect, esophageal atresia or stenosis, hypospadias, kidney agenesis/hypoplasia/dysplasia), we estimated prevalence ratios comparing those vaccinated &lt; 14 weeks' to those vaccinated ≥ 14 weeks' gestation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Participants reported receiving Pfizer-BioNTech vaccines (59.0%), Moderna (38.2%), and Janssen (2.8%) vaccines. Most (65.2%) participants received their first COVID-19 vaccine after the first trimester. The prevalence of major birth defects was 3.8%. Among defects with comparator estimates available (<i>n</i> = 50), 35 were below or within expected ranges. C19VPR prevalences were higher than the comparator confidence interval for 15 defects; however, C19VPR confidence intervals included comparator estimates. Prevalences did not differ by the timing of vaccination for seven defects examined.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Birth defects prevalence estimates among infants born to women receiving COVID-19 vaccines during or just prior to pregnancy were generally similar to pre-pandemic estimates. While there was no strong evidence of associations between vaccination and specific defects, statistical power was low.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2474","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144100805","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}

{"title":"Protective Impacts of Quercetin and Echinochrome on Female Fertility and Pregnancy Outcomes in Polycystic Ovary Syndrome in Rats","authors":"Rokia Gamal Mohamed,&nbsp;Ayman Saber Mohamed,&nbsp;Ahmed Imam Dakrory,&nbsp;Mennatallah H. Abdelaziz","doi":"10.1002/bdr2.2487","DOIUrl":"https://doi.org/10.1002/bdr2.2487","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Polycystic ovary syndrome (PCOS) is a universal reproductive, endocrine, and metabolic disorder. It affects 9.2% of women worldwide. Echinochrome (Ech) is the most common dark red pigment of sea urchin shells and possesses high antioxidant and hypoglycemic properties. Quercetin (Quer) is a flavonol widely distributed in plants with high antioxidant properties. Therefore, Ech and Quer as a combined protective therapy were investigated against letrozole and high-fat diet-induced PCOS model in rats.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Sixty female rats were divided randomly into five groups: Control: received 2% DMSO with a normal diet, PCOS: received letrozole with HFD, Ech: received letrozole and Ech with HFD, Quer: received letrozole and Quer with HFD, Ech + Quer: received letrozole, Ech, and Quer together daily orally for 4 weeks. Half of the rats in each group were sacrificed, and the remaining rats were examined for their ability to mate and fertility.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ech and Quer treatment restored normal levels of lipid and hormonal profiles, oxidative status, kidney and liver functions with a marked amelioration in ovarian, uterine histopathology, and a good evidence in pregnancy analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Ech and Quer were found to have a potent protective effect against PCOS, minimal side effects, and improved progeny outcomes in rats.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144100671","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}

{"title":"NEK2 Contributes to the Protection Against Cryptorchidism Outcomes","authors":"Xiaomeng Zhou,&nbsp;Songyi Ye,&nbsp;Xuehan Wang,&nbsp;Zhirong Liang,&nbsp;Neng Qian,&nbsp;Linghua Ji,&nbsp;Hua Xian,&nbsp;Ziheng Wang,&nbsp;Wenliang Ge","doi":"10.1002/bdr2.2485","DOIUrl":"https://doi.org/10.1002/bdr2.2485","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Cryptorchidism, characterized by the failure of testicular descent, is a common congenital disorder adversely affecting male reproductive health. Intriguingly, the NIMA-related kinase 2 (<i>NEK2</i>) gene has been implicated in various cellular processes, but its role in cryptorchidism remains underexplored.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>To elucidate NEK2's role, the researchers utilized NEK2 knockout mice, analyzing testes histology with hematoxylin–eosin (HE) staining and assessing sperm morphology by Diff-Quick staining. Immunohistofluorescence evaluated Leydig cell count, while Western blotting and immunohistochemistry analyzed 3β-hydroxysteroid dehydrogenase 1 (HSD3B1), critical for testosterone synthesis. Mouse testosterone levels were quantified by ELISA, and RT-qPCR examined testicular Wnt–β-catenin and HIPPO pathway expression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>NEK2-deficient mice exhibited significantly increased cryptorchidism incidence, decreased Leydig cell number, reduced testis/body weights, and elevated sperm malformations. Histological analysis revealed pronounced testicular damage. Western blotting and immunohistochemistry showed unchanged nuclear receptor subfamily 5 (NR5A1) and insulin-like protein 3 (INSL3), but decreased HSD3B1 in <i>NEK2</i>^−/− mice, leading to lower testosterone levels. Mechanistically, NEK2 knockout suppressed wingless/integrated (Wnt)–β-catenin and activated HIPPO, causing mammalian sterile 20-like protein kinase 2 (MST2)–large tumor suppressor homolog 2 (LATS2)-mediated downregulation of yes-associated protein (YAP).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These findings highlight NEK2's essential role in regulating testicular descent and spermatogenesis, implicating it as a potential target for cryptorchidism.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085025","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}

{"title":"The Health of Pregnant Women and Their Unborn Children– Neglected in Vaccine Development","authors":"Peter Selley,&nbsp;David Healy","doi":"10.1002/bdr2.2483","DOIUrl":"https://doi.org/10.1002/bdr2.2483","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Randomized Controlled Trials of vaccines given in pregnancy aimed at benefitting the unborn child began in 2015. Their use for licensing purposes now appears established. These trials generate data on possible benefits and harms to infants but also on maternal health impacts. The International Council on Regulations for Pharmaceutical Use in Humans has realized that current safety regulations are not adequate for clinical trials in the second half of pregnancy. They are now drawing up improved guidelines for the conduct of these trials.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>To focus attention on maternal and fetal health that his new willingness to run trials in pregnancy brings into the frame.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>We reviewed all recent maternal vaccine trials and their outcomes, along with potential concerns.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Analysis of data from recent trials of vaccines given in pregnancy suggests that they may be associated with adverse events during the pregnancy that affect both the mother and the fetus.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>The aim of vaccine trials in pregnancy currently centres on measuring the efficacy of prevention of infectious disease, and perinatal outcome. Study of the impact of maternal vaccines on pregnancy physiology has been neglected. New, rapidly developing areas, such as epigenomics, need to be considered. It is a good time for the wider field to have an input on what might be included in the guidelines, and whether other measures are needed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Insufficient attention has been given to monitoring the health of pregnant women and of their fetus during vaccine trials. The need for new guidelines offers an opportunity to require more stringent safety monitoring during pregnancy which will benefit women and their unborn children.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085024","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}