Birth Defects Research最新文献

{"title":"Society for Birth Defects Research and Prevention Symposium: Health Disparities Within Communities of Color","authors":"Madeline K. M. Vera-Colón,&nbsp;Gredia Huerta-Montañez,&nbsp;Vijaya Kancherla,&nbsp;Martina Anto-Ocrah,&nbsp;Michelle Myer,&nbsp;Marilyn Helen Silva","doi":"10.1002/bdr2.2412","DOIUrl":"10.1002/bdr2.2412","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>High-risk pregnancies and birth defects are often greater within communities of color where resources for a healthy pregnancy are generally lacking. Infant and maternal mortality, preterm birth, and instances of increased developmental and physical defects are related to environmental exposures (e.g., pesticides, lead in water, wildfire smoke), dietary additives, and lack of access to adequate healthcare. More frequently people of color and other under-served groups, are affected by historical inequality and unconscious bias. Compounding these disparities, research into these issues and efforts to address them are poorly supported.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The speakers in this symposium presented evidence for health disparities within communities of color to foster research aimed at identifying toxic levels of potentially hazardous dietary chemicals, or exposures in the pediatric population can focus on addressing the current inadequacy of translating scientific findings into enforceable policies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The disparities discussed within this symposium highlighted key areas in desperate need of policy reform. In the United States, regulatory exposure levels have been established for lead exposures but frequently exceed these limits without mitigation. Neural tube defects can be prevented by a simple dietary solution such as fortification of staple foods with folic acid. Recent literature on gender as a social determinant of health has determined women suffer more negative health consequences due to social attitudes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Ultimately, this symposium provided an understanding of the experience of disadvantaged and marginalized persons during pregnancy, illustrated the disparities that exist in reproductive health, and described the need to address and prevent them.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614519","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":"Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999–2014","authors":"Danielle L. Mitchell,&nbsp;Tiffany M. Chambers,&nbsp;A. J. Agopian,&nbsp;Renata H. Benjamin,&nbsp;Charles J. Shumate,&nbsp;Anne Slavotinek,&nbsp;Robert B. Hufnagel,&nbsp;Brian P. Brooks,&nbsp;Laura E. Mitchell,&nbsp;Philip J. Lupo","doi":"10.1002/bdr2.2413","DOIUrl":"10.1002/bdr2.2413","url":null,"abstract":"<div>\u0000 <section>\u0000 <h3> Background</h3>\u0000 <p>Coloboma is a rare congenital malformation in which part of the tissue that makes up the eye is missing and may cause visual impairment or blindness. Little is known about the epidemiology of this condition. Therefore, we obtained data from the Texas Birth Defects Registry on children identified with coloboma for the period 1999–2014.</p>\u0000 </section>\u0000 <section>\u0000 <h3> Methods</h3>\u0000 <p>Using information on all live births from the same period, prevalence ratios (PRs) for selected demographic and clinical factors were used to estimate associations using Poisson regression among cases with coloboma. Coloboma cases were divided into subgroups to explore patterns of co-occurring defects and syndromes. All variables significant in unadjusted models (<i>p</i> &lt; 0.05) were included in multivariable models to evaluate adjusted PRs (aPRs).</p>\u0000 </section> \u0000 <section>\u0000 <h3> Results</h3>\u0000 <p>We identified 1587 cases with coloboma, of whom 934 (58.8%) were nonsyndromic, and 474 (29.9%) were isolated. When considering all identified cases, factors associated with significant differences in prevalence included plurality (multiple vs. singleton aPR = 1.4, 95% CI: 1.1–1.8); maternal education (college or greater vs. less than high school aPR = 0.7, 95% CI: 0.6–0.9); maternal race/ethnicity (Hispanic vs. non-Hispanic White aPR = 0.9, 95% CI: 0.8–1.0); and maternal diabetes (yes vs. no aPR = 1.3, 95% CI: 1.0–1.6). There was a notable increase in the birth prevalence of coloboma during the study period (<i>p</i>-for-trend &lt; 0.001). Effect estimates were similar across the different subgroups.</p>\u0000 </section>\u0000 <section>\u0000 <h3> Conclusion</h3>\u0000 <p>In our large population, we identified several factors associated with the prevalence of coloboma. These findings may help define subgroups of women more likely to have children affected by coloboma, which could inform improved screening efforts.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614498","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 Impact of Maternal Passive Tobacco Smoke on Neonatal Myocardiopathy in Mice","authors":"Naseer Kawish,&nbsp;Muddasir Hassan Abbasi,&nbsp;Muhammad Babar Khawar,&nbsp;Tasleem Akhtar,&nbsp;Amin Arif,&nbsp;Ayesha Majid,&nbsp;Nadeem Sheikh","doi":"10.1002/bdr2.2411","DOIUrl":"10.1002/bdr2.2411","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Tobacco smoke has a global impact, particularly on pregnant women and their newborns. An emerging body of research suggests that passive tobacco smoking is a significant contributor to congenital cardiovascular disorders (CVDs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim of the Study</h3>\u0000 \u0000 <p>This study aimed to mimic the effects of passive tobacco smoke (PTS) on neonates exposed throughout the gestational period.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Female mice (DPC = 0) were exposed to PTS; 24 cigarettes/day with an interval of 10 min between each cigarette in a specialized smoke chamber from conception to birth. Histopathological analysis was employed to evaluate PTS-induced cardiac damage in neonates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The results revealed significant alterations in cell structure, namely, widened interstitial spaces, hemorrhage, pyknotic nuclei, inflammatory cell infiltration, collagen deposition, and fibrosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Maternal exposure to PTS during pregnancy may lead to neonatal myocardiopathy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567049","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":"Pharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide-B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish","authors":"Yukiko Hoshino,&nbsp;Shujie Liu,&nbsp;Toshiko Furutera,&nbsp;Takahiko Yamada,&nbsp;Daisuke Koyabu,&nbsp;Yuko Nukada,&nbsp;Masaaki Miyazawa,&nbsp;Tetsuya Yoda,&nbsp;Koichiro Ichimura,&nbsp;Sachiko Iseki,&nbsp;Junichi Tasaki,&nbsp;Masaki Takechi","doi":"10.1002/bdr2.2404","DOIUrl":"10.1002/bdr2.2404","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Mutations in genes encoding spliceosome components result in craniofacial structural defects in humans, referred to as spliceosomopathies. The SF3b complex is a crucial unit of the spliceosome, but model organisms generated through genetic modification of the complex do not perfectly mimic the phenotype of spliceosomopathies. Since the phenotypes are suggested to be determined by the extent of spliceosome dysfunction, an alternative experimental system that can seamlessly control SF3b function is needed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>To establish another experimental system for model organisms elucidating relationship between spliceosome function and human diseases, we administered Pladienolide-B (PB), a SF3b complex inhibitor, to mouse and zebrafish embryos and assessed resulting phenotypes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>PB-treated mouse embryos exhibited neural tube defect and exencephaly, accompanied by apoptosis and reduced cell proliferation in the neural tube, but normal structure in the midface and jaw. PB administration to heterozygous knockout mice of <i>Sf3b4</i>, a gene coding for a SF3b component, influenced the formation of cranial neural crest cells (CNCCs). Despite challenges in continuous PB administration and a high death rate in mice, PB was stably administered to zebrafish embryos, resulting in prolonged survival. Brain, cranial nerve, retina, midface, and jaw development were affected, mimicking spliceosomopathy phenotypes. Additionally, alterations in cell proliferation, cell death, and migration of CNCCs were detected.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We demonstrated that zebrafish treated with PB exhibited phenotypes similar to those observed in human spliceosomopathies. This experimental system may serve as a valuable research tool for understanding spliceosome function and human diseases.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2404","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142566970","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":"Stone Babies: A Pictorial Essay With Insights From 25 Museal Lithopaedions","authors":"Lucas L. Boer,&nbsp;Andreas Wasserscheid,&nbsp;Eduard Winter,&nbsp;Laurens de Rooy,&nbsp;Annelieke N. Schepens-Franke,&nbsp;Giovanni Magno,&nbsp;Alice Cusan,&nbsp;Helga Rehder,&nbsp;Jana Behunova,&nbsp;Anke Scharrer,&nbsp;Nick Lobé,&nbsp;Philipp Peloschek,&nbsp;Roelof-Jan Oostra,&nbsp;Susanne G. Kircher","doi":"10.1002/bdr2.2410","DOIUrl":"10.1002/bdr2.2410","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Lithopaedion, or “stone baby,” represents an exceptionally rare clinical phenomenon with fewer than 350 documented cases existing in the medical literature. This condition arises when an advanced extrauterine pregnancy ceases its developmental trajectory and undergoes a lithification process, potentially resulting in a calcified mass with fetal-like morphology. Typically, lithopaedions remain asymptomatic for decades, but may occasionally elicit acute symptoms necessitating medical intervention. However, predominantly, these entities are incidental findings discovered during radiological examinations or autopsies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In this article, we present a comprehensive overview of 25 lithopaedion cases, including unreported cases from several European medical museums. When feasible, additional radiological imaging was conducted to enhance diagnostic clarity. Furthermore, this article situates lithopaedions within a broader historical perspective and a detailed etiopathogenetic framework, elucidating the physiological and pathological mechanisms contributing to their formation. The phenomenon of lithopaedion is a testimony to the complex and often enigmatic nature of the human body.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>By compiling and scrutinizing a substantial number of cases, this review offers valuable insights into the clinical implications of lithopaedions. Furthermore, it highlights the necessity for ongoing research and meticulous documentation of rare medical conditions like this, in order to contribute to a deeper understanding of extraordinary phenomena.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2410","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557126","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":"A Single Cell Transcriptomic Fingerprint of Stressed Premature, Imbalanced Differentiation of Embryonic Stem Cells","authors":"Ximena L Ruden,&nbsp;Aditi Singh,&nbsp;Teya Marben,&nbsp;Wen Tang,&nbsp;Awoniyi O Awonuga,&nbsp;Douglas M. Ruden,&nbsp;Elizabeth E Puscheck,&nbsp;Hao Feng,&nbsp;Steven J. Korzeniewski,&nbsp;Daniel A Rappolee","doi":"10.1002/bdr2.2409","DOIUrl":"10.1002/bdr2.2409","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Miscarriages cause a greater loss-of-life than cardiovascular diseases, but knowledge about environmentally induced miscarriages is limited. Cultured naïve pluripotent embryonic stem cells (ESC) differentiate into extra-embryonic endoderm/extraembryonic endoderm (XEN) or formative pluripotent ESC, during the period emulating maximal miscarriage of peri-implantation development. In previous reports using small marker sets, hyperosmotic sorbitol, or retinoic acid (RA) decreased naïve pluripotency and increased XEN by FACS quantitation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Bulk and single cell (sc)RNAseq analyses of two cultured ESC lines was done, corroborated by qPCR. Transcriptomic responses were analyzed of cultured ESC stressed by Sorbitol, with Leukemia inhibitory factor (LIF + ; stemness growth factor), RA without LIF to control for XEN induction, and compared with normal differentiation (LIF − , ND).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Sorbitol and RA increase subpopulations of 2-cell embryo-like (2CEL) and XEN sub-lineages; primitive, parietal, and visceral endoderm (VE) cells and suppress formative pluripotency, imbalancing alternate lineage choices of initial naïve pluripotent cultured ESC compared with ND. Although bulk RNAseq and gene ontology (GO) group analyses suggest that stress induces anterior VE-head organizer and placental markers, scRNAseq reveals relatively few cells. But VE and placental markers/cells were in adjacent stressed cell clusters in the UMAP, like recent, normal UMAP of conceptuses. UMAPs show that dose-dependent stress overrides stemness to force premature lineage imbalance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Hyperosmotic stress, and other toxicological stresses, like drugs with active ingredient RA, may cause premature, lineage imbalance, resulting in miscarriages or birth defects.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557125","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":"Correction to Association Between Self-Reported Infections and Seropositivity Among Pregnant Women With Gastroschisis: A Case Control Study, With Emphasis on Chlamydia trachomatis","authors":"","doi":"10.1002/bdr2.2407","DOIUrl":"10.1002/bdr2.2407","url":null,"abstract":"<p>\u0000 <span>Feldkamp, M.</span>, <span>Baum-Jones, E.</span>, <span>Enioutina, E.</span>, <span>Krikov, S.</span> and <span>Kamath, K.</span> (<span>2024</span>), <span>Association Between Self-Reported Infections and Seropositivity Among Pregnant Women With Gastroschisis: A Case Control Study, With Emphasis on <i>Chlamydia trachomatis</i></span>. <i>Birth Defects Research</i>, <span>116</span>: e2400. https://doi.org/10.1002/bdr2.2400.\u0000 </p><p>In the originally-published article, the following text should have been omitted from the Results section in the abstract: “changing partners between pregnancies (p=&lt;0.01).” The entire Results section should read: “Results: Cases were more likely to report a younger age at sexual debut (<i>p</i> = &lt;0.01), more sexual partners (<i>p</i> = 0.02), being un-married (<i>p</i> &lt; 0.01), smoking cigarettes (&lt;0.01), and a recent sexually trans-mitted infection (STI) (<i>p</i> = 0.02). No differences were observed for self-report of illicit drug use or periconceptional urinary tract infections. Cases had a higher seropositivity for cytomegalovirus (<i>p</i> = 0.01). No differences were observed for herpes simplex I, II, or Epstein–Barr. Though based on small numbers, <i>C. trachomatis</i> seropositivity was highest in cases (17%) compared to controls (8.8%) with the highest proportion observed in case women &lt;20 years of age (cases 33%; controls 0%). Any STI (self-report or seropositivity) was also highest among cases &lt;20 years of age (cases 47%; controls 0%). Among <i>C. trachomatis</i> seropositive women, self-report and prenatal medical record sensitivity was 27.8% and 3%, respectively.”</p><p>We apologize for this error.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2407","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543604","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":"Higher Incidence of Common Polymorphisms in the Genes of Folate and Methionine Cycles in Children With Orofacial Clefs and Congenital Heart Defects Compared to their Unaffected Siblings","authors":"Nataša Karas Kuželički,&nbsp;Alenka Šmid,&nbsp;Maša Vidmar Golja,&nbsp;Tina Kek,&nbsp;Andreja Eberlinc,&nbsp;Borut Geršak,&nbsp;Uroš Mazič,&nbsp;Irena Mlinarič-Raščan,&nbsp;Ksenija Geršak","doi":"10.1002/bdr2.2408","DOIUrl":"10.1002/bdr2.2408","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Uninterrupted folate metabolism plays a vital role in embryonic development, ensuring a supply of one-carbon-activated folate cofactors for essential processes. Folate deficiency has been implicated in the development of orofacial clefts (OFC) and congenital heart disease (CHD). Although both malformations have been extensively studied in lieu of folate deficiency, the results of corresponding studies are ambiguous due to the interplay of maternal and fetal genomes controlling folate metabolism in the developing fetus.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used the innovative study design to compare affected and unaffected siblings from the same mother, thus minimizing the effect of the maternal genome. Thus, it might be possible to identify genetic markers of congenital malformations that pertain exclusively to the child. This study compared demographic and environmental factors between OFC or CHD-affected and unaffected pregnancies as well as the presence of polymorphisms in genes of folate metabolism between OFC or CHD-affected and unaffected siblings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Only the maternal fever in the first trimester was a risk factor for OFC, whereas the maternal advanced age, medication administration, and common polymorphism in the <i>FPGS</i> gene increased the risk of CHD formation. Both OFC and CHD formation were associated with a higher number of variant loci in genes of folate–methionine cycles.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Both OFC and CHD formation were associated with a higher number of mutated loci in genes of folate–methionine cycles, indicating polygenic and possibly multifactorial inheritance.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2408","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543605","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":"Pregnancy and Long-Term Postnatal Outcomes of Congenital Sacrococcygeal Teratoma: A Single Institution's 18-Year Experience","authors":"Ava D. Mandelbaum,&nbsp;Raphael C. Sun,&nbsp;Amanda J. H. Kim,&nbsp;Roya Sohaey,&nbsp;Melanie Hakar,&nbsp;Saharnaz Tavoosi,&nbsp;Lucy Ward,&nbsp;Monica Rincon,&nbsp;Allison J. Allen,&nbsp;Stephanie Dukhovny,&nbsp;Andrew H. Chon","doi":"10.1002/bdr2.2405","DOIUrl":"https://doi.org/10.1002/bdr2.2405","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The objective of this study is to evaluate outcomes of fetal sacrococcygeal teratoma (SCT) from an academic tertiary center.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Study Design</h3>\u0000 \u0000 <p>This is a retrospective study evaluating pregnancy and postnatal outcomes of fetal SCT management at a single institution between 2006 and 2023. Results are reported as median (range).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fourteen patients with fetal SCT were studied. Hydrops fetalis occurred in 2 (14.3%) cases. Pregnancy course included expectant management in 12 (85.7%) and palliative preterm induction in 1 patient (7.1%). Indications for delivering timing included fetal deterioration in 7 patients (50%), preeclampsia in 3 (21.4%), elective induction of delivery in 3 (21.4%), and preterm labor in 1 (7.1%). Delivery GA was 36.4 weeks (26.4–40.1 weeks), with 11 (78.5%) cesareans and 3 (21.4%) vaginal deliveries. There were 13 (92.9%) live births and 11 (78.6%) long-term survivors. Postnatal resection pathology demonstrated 7 (53.8%) mature, 3 (23.1%) immature, and 3 (23.1%) malignant SCTs. Of the 11 long-term survivors, 3 (27.3%) had teratoma recurrences, including 2 (18.2%) with metastatic disease requiring chemotherapy. Notable long-term complications involved gastrointestinal (<i>n</i> = 7, 63.6%), genitourinary (<i>n</i> = 4, 36.4%), and musculoskeletal (<i>n</i> = 2, 18.2%) systems.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>SCT confers significant morbidity to both the pregnant patient and neonate. Multidisciplinary prenatal and postnatal care is needed to comprehensively manage this complex condition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142451772","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":"Genetic Variants in METTL16 Affect the Risk of Non-Syndromic Orofacial Clefts","authors":"Xinze Xu,&nbsp;Xiaofeng Li,&nbsp;Minxuan Han,&nbsp;Changyue Xing,&nbsp;Guirong Zhu,&nbsp;Xing Cui,&nbsp;Lin Wang,&nbsp;Shu Lou,&nbsp;Yongchu Pan","doi":"10.1002/bdr2.2403","DOIUrl":"https://doi.org/10.1002/bdr2.2403","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>N6-methyladenosine (m⁶A) is the most prevalent modification of RNA in eukaryotes which is associated with many cellular processes and diseases. Here, our objective is to explore whether genetic variants in m⁶A modification genes are associated with the risk of non-syndrome orofacial clefts (NSOCs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The transmission disequilibrium test (TDT) was performed to calculate the association between single nucleotide polymorphisms (SNPs) in m⁶A modification genes and NSOCs risk in 944 case-parent trios. The function of SNP was predicted by HaploReg, RegulomeDB and histone enrichment data. The expression quantitative trait locus (eQTL) analysis was examined using Genotype-Tissue Expression (GTEx) and eQTLGen. The role of gene in the development of NSOCs was assessed with correlation and enrichment analysis based on gene expression data in mice craniofacial tissue and zebrafish embryo.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified that rs8078195 (A &gt; C) in <i>METTL16</i> was suggestively associated with the increased risk of NSOCs (OR = 1.32, <i>p</i> = 1.80E − 03). The region surrounding rs8078195 was subjected to deoxyribonuclease hypersensitivity and enriched with multiple histone modifications. In addition, it had a significant eQTL effect with <i>METTL16</i> in skin tissue and human peripheral blood, which played an important role in NSOCs development. Bioinformatic analysis indicated that <i>METTL16</i> contributed to the development of NSOCs probably by regulating cell cycle process.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Rs8078195 in <i>METTL16</i> was associated with the occurrence of NSOCs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142439054","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}