Birth Defects Research最新文献

{"title":"Protective Role of Vitamin B6 Against Teratogenic Effects Induced by Lead in Chick Embryo","authors":"Waheed Ahmad,&nbsp;Muhammad Ali Kanwal,&nbsp;Iram Inayat,&nbsp;Syeda Nadia Ahmad,&nbsp;Aima Iram Batool,&nbsp;Nazish Ghazanfar,&nbsp;Rabia Idrees,&nbsp;Sadia Suleman,&nbsp;Asma Younis,&nbsp;Khawaja Raees Ahmad","doi":"10.1002/bdr2.2416","DOIUrl":"10.1002/bdr2.2416","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Heavy metals like lead (Pb) have been used by humans for a very long time, but throughout the industrial revolution, their use expanded, increasing exposure to the metal. Lead, however, has no biological purpose in the human body and is hazardous when it gets into soft tissues and organs. Lead is still used in a variety of industries, including battery manufacturing and car maintenance, despite efforts to limit its usage.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study investigates the teratogenic and morphometric effects of lead on chick embryos and the potential ameliorative effects of vitamin B6.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Two hundred fertilized eggs from the golden black chicken were divided into four groups: control, lead acetate, vitamin B6, and lead + vitamin B6.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>On the 14th day, embryos were analyzed. Significant reductions in body weight and size were observed in the lead-exposed group (33.93 ± 1.27 g) compared to the control (41.12 ± 0.97 g). Pronounced deformities included rudimentary beaks, protruding eyes, tridactyl limbs, hydrocephaly, and neck deformities. Appendicular deformities like phocomelia, amelia, and abnormal phalanges growth were also noted. Vitamin B6 demonstrated therapeutic benefits, significantly improving mean embryo weight in the Lead + Vitamin B6 group (42.37 ± 0.99 g). The lead-exposed group showed a reduction in maxilla length (3.61 ± 1.30 mm) compared to the Lead + Vitamin B6 group (7.57 ± 0.79 mm). This group also showed reduced severity of muscular dystrophy and bone thinning, with signs of recovery in beak and bone sizes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The study highlights vitamin B6's beneficial impact in mitigating lead's toxic effects on chick embryonic development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715365","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":"Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study","authors":"Charlotte Dubucs,&nbsp;Anthony Caillet,&nbsp;Félix Frémont,&nbsp;Laurane Delteil,&nbsp;Van N'Go,&nbsp;Amanda Julie Neville,&nbsp;Elisa Ballardini,&nbsp;Helen Dolk,&nbsp;Maria Loane,&nbsp;Ester Garne,&nbsp;Babak Khoshnood,&nbsp;Nathalie Lelong,&nbsp;Anke Rissmann,&nbsp;Mary O'Mahony,&nbsp;Anna Pierini,&nbsp;Miriam Gatt,&nbsp;Jorieke Bergman,&nbsp;Maciej Robert Krawczynski,&nbsp;Anna Latos Bielenska,&nbsp;Luis Javier Echevarría González de Garibay,&nbsp;Clara Cavero-Carbonell,&nbsp;Marie-Claude Addor,&nbsp;David Tucker,&nbsp;Sue Jordan,&nbsp;Elly Den Hond,&nbsp;Vera Nelen,&nbsp;Ingeborg Barisic,&nbsp;Florence Rouget,&nbsp;Hanitra Randrianaivo,&nbsp;Jonathan Hoareau,&nbsp;Isabelle Perthus,&nbsp;Caroline Hurault-Delarue,&nbsp;Monique Courtade-Saïdi,&nbsp;Christine Damase-Michel","doi":"10.1002/bdr2.2414","DOIUrl":"https://doi.org/10.1002/bdr2.2414","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Congenital ocular anomalies (COA) are among the most common causes of visual impairment in children in high-income countries. The aim of the study is to describe the prevalence of the various COA recorded in European population-based registries of CA (EUROCAT) participating in the EUROmediCAT consortium.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 19 EUROmediCAT registries and one healthcare database (EFEMERIS) were included in this descriptive epidemiological study. Cases of COA included live births, FD from 20 weeks gestational age (GA), and termination of pregnancy for fetal anomaly.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The prevalence of total COA was 3.47/10,000 births (95% CI [3.61–3.82]), ranging from 1.41 to 13.46/10,000 depending on the registry. Among COA cases, congenital lens anomalies were the most frequent anomalies (31%), of which over half were single ocular anomalies (presenting with only one ocular anomaly). An/microphthalmia was the second most frequent COA (24%) of which three-quarters were multiply malformed (associated to extraocular major anomalies). Among single COA cases, 58 were prenatally diagnosed (4%), of which, 58% were diagnosed in the second trimester. Known genetic causes of COA explained 2.5%–25% of COA depending on their class.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This is the first European study describing COA. The detailed prevalence data offered in this study could improve screening and early diagnosis of different classes of COA. As COA are rare, epidemiological surveillance of large populations and accurate clinical descriptions are essential.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2414","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708355","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":"Epidemiology of Macrocephaly in the Texas Birth Defects Registry, 1999–2019","authors":"Rachel P. Allred,&nbsp;J. Aguilar-Martinez,&nbsp;R. Howell,&nbsp;Dayana Betancourt,&nbsp;Lisa Marengo,&nbsp;A. Dixon,&nbsp;H. Jeon,&nbsp;C. Yantz,&nbsp;M. Kilburn,&nbsp;Margaret Drummond-Borg,&nbsp;Joanne Nguyen,&nbsp;Fernando Arena,&nbsp;Charles Shumate","doi":"10.1002/bdr2.2415","DOIUrl":"https://doi.org/10.1002/bdr2.2415","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;Macrocephaly is a clinical observation denoted as an occipitofrontal head circumference exceeding two standard deviations above same age and sex norms. By its definition, macrocephaly occurs in approximately 3% of the population. Descriptive epidemiologic evaluations of macrocephaly are lacking in the literature. The primary objective of this study was to describe the prevalence of macrocephaly captured by the Texas Birth Defects Registry (TBDR) by infant sex, rural/urban residence, and select maternal characteristics.&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;Cases of TBDR between 1999 and 2019 with a six-digit Centers for Disease Control modified-British Pediatric Association (BPA) code of 742.400 (enlarged brain/head, large head, macrocephaly, megalencephaly) were identified. All pregnancy outcomes and diagnostic certainties were included. Prevalence (per 10,000 live births) and 95% confidence intervals (CIs) were calculated using a Poisson table by rural/urban residence, infant sex, maternal age, education, race/ethnicity, history of diabetes, and body mass index (BMI). Prevalence calculations were repeated across multiple sensitivity analyses including (1) definite, isolated cases excluding those with indication of being either “benign” or “familial”, (2) definite, non-isolated cases, (3) definite non-isolated cases excluding chromosomal and syndromic cases, and (4) definite, proportionate (at birth) cases. A secondary objective was to describe the most common co-occurring congenital defects among definite, non-isolated cases.&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;Overall, between 1999 and 2019, 14,637 cases of macrocephaly were identified in the TBDR resulting in a prevalence of 18.12/10,000 live births (95% CI: 17.83–18.42). Most cases were live born (99%), had a definite diagnosis (87%), and were non-isolated (57%). Prevalence was significantly higher among males, among those with an urban residence, and among mothers who were older, Non-Hispanic White, who had greater than high school education, who had a history of diabetes, and who were obese. Prevalence patterns remained consistent across all sensitivity analyses. The most common co-occurring congenital defects among definite, non-isolated cases were minor and primarily included skull and facial bone anomalies (e.g., plagiocephaly [18%]).&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusions&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;To our knowledge, this is the first epidemiologic evaluation of macrocephaly in a birth defects registry. The long-term clinical impact of isolated macrocephaly is not well understood and should be the focus of future investigations.&lt;","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708357","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":"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}