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Abstracts from the 19th International Congress on Twin Studies, 26-28 September 2024. 第19届国际双胞胎研究大会摘要,2024年9月26-28日。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-04-14 DOI: 10.1017/thg.2025.12
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引用次数: 0
Diagnostic Integrity of DSM Categorized Eating Disorders: Exploration of Alternative Methods of Classification and the Implications for Genetic Research - CORRIGENDUM. DSM分类饮食失调的诊断完整性:探索分类的替代方法和对遗传研究的影响-勘误表。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-04-14 DOI: 10.1017/thg.2025.20
Jessica Livney, Melissa Pehlivan, Nicholas G Martin, Sarah Maguire
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引用次数: 0
Abstracts from the 19th International Congress on Twin Studies, 11-14 November 2021 - CORRIGENDUM. 第19届国际双胞胎研究大会摘要,2021年11月11日至14日-勘误表。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-03-28 DOI: 10.1017/thg.2025.13
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引用次数: 0
The Excess Mortality Among Twins in the Dominican Republic and Haiti Through the Components of Age Under Five: A Comparative Study of Trends and Associated Factors. 多明尼加共和国和海地五岁以下双胞胎的超额死亡率:趋势和相关因素的比较研究。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-03-24 DOI: 10.1017/thg.2025.11
Adama Ouedraogo, David Jean Simon, Ann Kiragu, Nicole Estefany Aponte Cueto, Vénunyé Claude Kondo Tokpovi

Despite the decline in mortality rates among children in developing countries, disparities persist between countries, particularly between twins and singletons. This study employed data from nine Demographic and Health Surveys in the Dominican Republic and Haiti to estimate and compare mortality rates for twins and singletons in categories of the under-5 age group (neonatal, postneonatal, and child mortality) and examine the factors associated with excess mortality among twins. From 1996 to 2013, the under-5 mortality rate (U5MR) for singletons in the Dominican Republic declined from 56‰ (95% CI [47, 64) to 30‰ (22-39) and from 108‰ (53-164) to 53‰ (16-89) among twins. In Haiti, between 1994 and 2016, the U5MR declined from 121‰ (109-133) to 77‰ (68-80) for singletons and from 432‰ (327-538) to 204‰ (149-260) among twins. The adjusted risk of neonatal death for twins is 1.4 (1.0-1.9) times higher than for singletons in the Dominican Republic, compared to a risk of 4.3 (3.5-5.3) times higher in Haiti. In the post-neonatal period, the mortality risk for twins in the Dominican Republic was 1.8 (1.0-3.1) times higher than that for singletons, 2.9 (2.3-3.8) in Haiti. The risk of death for twins was not significantly different from that for singletons in both the Dominican Republic and Haiti at ages 1-4 years. Low birth weight, lack of breastfeeding, absence of, or inadequate, antenatal care, noncesarean section birth, and high birth order were associated with excess mortality among twins in both countries.

尽管发展中国家的儿童死亡率有所下降,但国家之间的差距仍然存在,特别是双胞胎和单胎之间的差距。本研究采用了多米尼加共和国和海地9项人口与健康调查的数据,以估计和比较5岁以下年龄组(新生儿、新生儿后期和儿童死亡率)双胞胎和单胎婴儿的死亡率,并检查与双胞胎死亡率过高相关的因素。1996年至2013年,多米尼加共和国单胎5岁以下儿童死亡率(U5MR)从56‰(95% CI[47, 64])下降到30‰(22-39),双胞胎从108‰(53-164)下降到53‰(16-89)。在海地,1994年至2016年期间,单胎的U5MR从121‰(109-133)下降到77‰(68-80),双胞胎的U5MR从432‰(327-538)下降到204‰(149-260)。在多米尼加共和国,双胞胎新生儿死亡的调整后风险是单胎新生儿死亡的1.4倍(1.0-1.9),而海地的风险是4.3倍(3.5-5.3)。在新生儿后期,多米尼加共和国双胞胎的死亡风险是单胎的1.8倍(1.0-3.1),海地是2.9倍(2.3-3.8)。在多米尼加共和国和海地,双胞胎在1-4岁时的死亡风险与单胎没有显著差异。在这两个国家,低出生体重、缺乏母乳喂养、缺乏或不充分的产前保健、非剖宫产和高出生顺序与双胞胎的高死亡率有关。
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引用次数: 0
The Experiences of Patients With Vanishing Twin Syndrome: A Mixed-Methods Exploration of Patient Satisfaction and Miscarriage Information. 双胎消失综合征患者的经历:患者满意度和流产信息的混合方法探索。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-03-21 DOI: 10.1017/thg.2025.10
Nichole M Cubbage, Nicholas Embleton, Carly Levy

Vanishing twin syndrome is a miscarriage of multiples where one or more fetuses 'vanishes' (i.e., partial or full resorption or via calcification) during pregnancy, often before detection via ultrasound. It affects 30-50% of multifetal pregnancies, with most cases resulting in full resorption within the first trimester. Despite its recognition since 1945 and rising occurrence in both natural and assisted pregnancies, standardized clinical guidelines remain inadequate, leading to inconsistent diagnosis, counseling, and communication from healthcare providers. This study examines the experiences of mothers and gestational carriers diagnosed with VTS, focusing on patient-provider communication, risks, and symptom disclosure. A global online survey collected qualitative and quantitative data from 153 participants across 17 countries. Results show that most patients with formal diagnoses experienced negative interactions with healthcare providers, with an average sentiment score of -0.7 (on a scale from -2 to 2). Over 53.4% rated their communication experience as -1, and the average satisfaction score for the amount of information received was 3.5/10. Additionally, 43% of respondents were not informed about chorionicity, a key factor affecting fetal outcomes. Significant discrepancies in care were observed across different countries. The findings highlight major gaps in patient-provider communication and inconsistent clinical practices regarding VTS. Addressing these issues through improved education, clearer protocols, and standardized guidelines could enhance patient experiences and decision-making. Future research should focus on provider training and evidence-based strategies to improve the management of VTS and other types of miscarriage and death of multiples during pregnancy and postpartum.

消失双胞胎综合征是指妊娠期间一个或多个胎儿“消失”(即部分或全部吸收或通过钙化)的多胎流产,通常在超声检测之前发生。它影响30-50%的多胎妊娠,大多数病例在妊娠头三个月导致完全吸收。尽管自1945年以来人们就认识到这一点,并且自然妊娠和辅助妊娠的发生率都在上升,但标准化的临床指南仍然不足,导致医疗保健提供者的诊断、咨询和沟通不一致。本研究考察了被诊断为VTS的母亲和妊娠携带者的经历,重点关注患者与提供者的沟通、风险和症状披露。一项全球在线调查收集了来自17个国家153名参与者的定性和定量数据。结果显示,大多数正式诊断的患者与医疗服务提供者的互动都是负面的,平均情绪得分为-0.7(从-2到2)。超过53.4%的患者将他们的沟通体验评为-1,所收到的信息量的平均满意度得分为3.5/10。此外,43%的受访者没有被告知绒毛膜性,这是影响胎儿结局的关键因素。不同国家在护理方面存在显著差异。研究结果突出了关于VTS的患者与提供者沟通的主要差距和不一致的临床实践。通过改进教育、更清晰的协议和标准化的指导方针来解决这些问题,可以改善患者的体验和决策。未来的研究应侧重于提供者培训和循证战略,以改善VTS和其他类型的流产和多胎妊娠和产后死亡的管理。
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引用次数: 0
Diagnostic Integrity of DSM Categorized Eating Disorders: Exploration of Alternative Methods of Classification and the Implications for Genetic Research. DSM分类饮食失调的诊断完整性:探索分类的替代方法和对遗传研究的影响。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-03-12 DOI: 10.1017/thg.2025.3
Jessica Livney, Melissa Pehlivan, Nicholas G Martin, Sarah Maguire

Research is only beginning to shape our understanding of eating disorders as metabolic-psychiatric illnesses. How eating disorders (EDs) are classified is essential to future research for understanding the etiology of these severe illnesses and both developing and tailoring effective treatments. The gold standard for classification for research and diagnostic purposes has primarily been and continues to be the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). With the reconceptualization of EDs comes new challenges of considering how EDs are classified to reflect clinical reality, prognosis and lived experience. In this article, we explore the DSM-5 method of categorical classification and how it may not accurately represent the fluidity in which EDs present themselves. We discuss alternative methods of conceptualizing EDs, and their relevance and implications for genetic research.

研究才刚刚开始塑造我们对饮食失调作为代谢精神疾病的理解。如何对饮食失调(EDs)进行分类对于了解这些严重疾病的病因以及开发和定制有效治疗方法的未来研究至关重要。用于研究和诊断目的的分类的黄金标准主要是并将继续是精神疾病诊断和统计手册(DSM-5)。随着急诊科概念的重新定义,急诊科的分类也面临着新的挑战,即如何反映临床现实、预后和生活经验。在这篇文章中,我们探讨了DSM-5的分类方法,以及它如何不能准确地代表ed呈现自己的流动性。我们讨论了概念化ed的替代方法,以及它们对遗传研究的相关性和意义。
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引用次数: 0
Causal Effect Between Natural Hair Color and Endometriosis in a European Population: A Two-Sample Mendelian Randomization. 欧洲人群中自然发色与子宫内膜异位症的因果关系:两样本孟德尔随机化。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-02-25 DOI: 10.1017/thg.2025.1
Yuping Zhang, Ying Feng

Previous observational studies have suggested an association between natural hair color and the risk of endometriosis; however, the causal relationship remains unclear. Here, we conducted a two-sample Mendelian randomization (MR) study to evaluate the potential causal link between natural hair color and endometriosis using 428 single nucleotide polymorphisms (SNPs) as genetic instruments derived from a genomewide meta-analysis comprising over 4511 cases and 227,260 controls of European ancestry. Our findings indicate that dark brown hair is associated with a decreased risk of developing endometriosis (dark brown IVW OR: 0.844, 95% CI [0.725, 0.984], p < .05). Conversely, dark hair color and lighter hair colors (red, blonde, and light brown) did not demonstrate a significant association with endometriosis risk (dark IVW OR: 0.568, 95% CI [0.280, 1.15], p = .117; red IVW OR: 1.058, 95% CI [0.719, 1.558], p = .77; blonde IVW OR: 1.158, 95% CI [0.886, 1.514], p = .28; light brown IVW OR: 1.306, 95% CI [0.978, 1.743], p = .07). These results provide compelling MR evidence supporting a causal association between natural hair color and endometriosis risk. Our findings underscore the need for larger scale studies and randomized controlled trials to delineate the biological mechanisms driving the association between hair color and endometriosis.

先前的观察性研究表明,自然发色与子宫内膜异位症的风险之间存在关联;然而,因果关系尚不清楚。在这里,我们进行了一项双样本孟德尔随机化(MR)研究,以评估天然发色和子宫内膜异位症之间的潜在因果关系,使用428个单核苷酸多态性(snp)作为遗传工具,这些基因来自于一项全基因组荟萃分析,其中包括超过4511例病例和227,260例欧洲血统的对照。我们的研究结果表明,深棕色头发与发生子宫内膜异位症的风险降低有关(深棕色IVW OR: 0.844, 95% CI [0.725, 0.984], p < 0.05)。相反,深色发色和浅色发色(红色、金色和浅棕色)与子宫内膜异位症风险没有显著关联(深色IVW OR: 0.568, 95% CI [0.280, 1.15], p = 0.117;红色IVW OR: 1.058, 95% CI [0.719, 1.558], p = 0.77;金发IVW OR: 1.158, 95% CI [0.886, 1.514], p = 0.28;浅棕色IVW OR: 1.306, 95% CI [0.978, 1.743], p = 0.07)。这些结果提供了令人信服的MR证据,支持天然发色和子宫内膜异位症风险之间的因果关系。我们的发现强调需要更大规模的研究和随机对照试验来描述头发颜色和子宫内膜异位症之间联系的生物学机制。
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引用次数: 0
Gene-Environment Interplay in the Relationship Between Gaming Addiction and Close Friends' Gaming. 游戏成瘾与好友游戏关系的基因-环境相互作用
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-02-24 DOI: 10.1017/thg.2025.5
Yoon-Mi Hur

Both peer influences and genetics have been linked to gaming addiction (GA) in adolescents and young adults. This study examined the gene-environment interplay (gene-environment correlation [rGE] and gene-environment interaction [G x E]) between close friends' gaming (CFG) and GA among South Korean twins. A total of 1462 twins aged 15-29 years (mean = 22.63 ± 2.8 years) completed an online survey that included a 20-item GA measure and a single item assessing CFG. Bivariate Cholesky model-fitting analysis was conducted to examine evidence for rGE in the relationship between GA and CFG. Bivariate G x E model-fitting analysis was performed to determine evidence for G x E effects. A significant genetic correlation (rg = .37; 95% CI [0.24, 0.49]) between GA and CFG supported the role of gene-environment correlation, suggesting that individuals with a genetic predisposition for GA may selectively associate with peers who frequently engage in gaming. The model testing G x E effects indicated that environment-environment interaction was present in the relationship between CFG and GA, such that CFG increased nonshared environmental effects on GA. This pattern provided evidence for peer socialization effects, wherein peers influence the development of GA independently of genetic risk.

同龄人的影响和基因都与青少年和年轻人的游戏成瘾(GA)有关。本研究考察了韩国双胞胎中好友游戏(CFG)和GA之间的基因-环境相互作用(基因-环境相关[rGE]和基因-环境相互作用[gx E])。共有1462名15-29岁的双胞胎(平均22.63±2.8岁)完成了一项在线调查,包括20项GA测量和一项CFG评估。采用双变量Cholesky模型拟合分析来检验rGE在GA和CFG之间关系中的证据。进行双变量gx E模型拟合分析以确定gx E效应的证据。遗传相关性显著(rg = .37;GA和CFG之间的95% CI[0.24, 0.49]支持基因-环境相关性的作用,这表明具有GA遗传易感性的个体可能会选择性地与经常参与游戏的同伴交往。模型检验gx E效应表明,CFG与GA之间存在环境-环境交互作用,CFG增加了GA的非共享环境效应。这种模式为同伴社会化效应提供了证据,其中同伴影响GA的发展独立于遗传风险。
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引用次数: 0
What's in Twins' Names? Mixed Credit Reports/Twin Research Review: Treating Twins with Central Nervous System Infection; Twin Insights into COVID-19; Septal Aneurism in Monozygotic Twins; Twin Births via Assisted Reproduction vs. Natural Conception; Tribute to Dr. Helen E. Fisher/ Human Interest: Twins Rally for Twin Hostages; Tribute to the National Mothers of Twins Clubs Founder; Quadruplet Birth; Identical Twin Politician; Identical Twin Actresses. 双胞胎的名字里有什么?混合信用报告/双胞胎研究综述:治疗双胞胎中枢神经系统感染;对COVID-19的双重见解;同卵双生婴儿鼻中隔动脉瘤的研究辅助生殖与自然受孕双胞胎的比较研究向海伦·e·费舍尔博士致敬/人类利益:双胞胎为双胞胎人质集会;向全国双胞胎母亲俱乐部创始人致敬;成套的诞生;同卵双胞胎政治家;同卵双胞胎女演员。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-02-20 DOI: 10.1017/thg.2025.8
Nancy L Segal

Giving twins similar names places them at increased risk for mixed credit reports as they enter young adulthood and beyond. Attorneys specializing in this area of the law are often required to manage lawsuits againt the agencies responsible for such errors. This overview is followed by summaries of twin research and reports of treating twins with central nervous system infection, twins with COVID-19, and twins with septal aneurism, as well as a review of the comparative outcomes of twins born via assisted reproduction versus natural conception and a tribute to the late Dr Helen E. Fisher. Human interest items include a twins' rally for Israeli twins held hostage in Gaza, a tribute to the founding member of the National Mothers of Twins Clubs (now Multiples of America), a quadruplet birth, an identical twin politician, and identical twin actresses.

给双胞胎取相似的名字会增加他们进入青年期及以后信用报告混杂的风险。专门从事这一法律领域的律师经常被要求处理针对对此类错误负责的机构的诉讼。本综述之后是双胞胎研究的总结和治疗中枢神经系统感染双胞胎、COVID-19双胞胎和间隔动脉瘤双胞胎的报告,以及通过辅助生殖与自然受孕出生的双胞胎的比较结果的回顾,并向已故的海伦·e·费舍尔博士致敬。人类感兴趣的项目包括为在加沙被绑架的以色列双胞胎举行的双胞胎集会、向全国双胞胎母亲俱乐部(现为美国多胞胎协会)的创始成员致敬、四胞胎出生、同卵双胞胎政治家和同卵双胞胎女演员。
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引用次数: 0
Gestational Diabetes Mellitus and the Longitudinal Fetal Growth Trajectories in Twin Pregnancies. 妊娠糖尿病与双胎妊娠的纵向胎儿生长轨迹
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-02-14 DOI: 10.1017/thg.2025.6
Xinyu Shu, Mi Yao, Chenglong Li, Na Chen, Yan Zhang, Xin Kang, Juan Juan, Huixia Yang

Although it is well established that gestational diabetes mellitus (GDM) is associated with fetal overgrowth in singleton pregnancies, little is known about its role in twins. We aimed to explore the relationship between GDM and the longitudinal fetal growth in twin pregnancies. This was a retrospective matched cohort study of GDM and non-GDM twin pregnancies delivered ≥36 weeks without other complications. All the women performed ≥3 ultrasounds after 22 weeks. Linear mixed models (LMMs) were used to explore the relationships between longitudinal fetal growth trajectories and GDM. Group-based trajectory modeling (GBTM) and generalized estimating equation (GEE) were applied to identify the latent growth patterns and investigate their relationships with GDM. In total, 215 GDM and 645 non-GDM twins were included, the majority of the patients did not require medication therapy (n = 202, GDMA1). LMM revealed that, compared with non-GDM, GDM was associated with an average increase in fetal weight of 4.36 g (95% CI [1.25, 7.48]) per week. GBTM and GEE further revealed that GDM increased the odds of fetal weight trajectory to nearly 40% of the total fetal weight trajectory, classified into the high-speed group (aOR = 1.39, 95% CI [1.03, 1.88]), associating with a 49.44 g (95% CI [11.41, 87.48]) increase in birth weight. Subgroup analysis revealed that all these differences were only significant among the GDMA1 pregnancies (p < .05). GDM (GDMA1) is significantly associated with an increase in fetal weight during gestation in twin pregnancies. However, this acceleration is mild, and its significance requires further exploration.

尽管妊娠期糖尿病(GDM)与单胎妊娠胎儿过度生长有关的观点已得到广泛认可,但对其在双胎妊娠中的作用却知之甚少。我们旨在探讨妊娠期糖尿病与双胎妊娠胎儿纵向生长之间的关系。这是一项回顾性配对队列研究,研究对象为分娩≥36周且无其他并发症的GDM和非GDM双胎妊娠。所有孕妇均在 22 周后进行了≥3 次超声检查。线性混合模型(LMMs)用于探索纵向胎儿生长轨迹与 GDM 之间的关系。应用基于组的轨迹模型(GBTM)和广义估计方程(GEE)来识别潜在的生长模式并研究它们与GDM的关系。研究共纳入了 215 例 GDM 和 645 例非 GDM 双胞胎,其中大多数患者不需要药物治疗(n = 202,GDMA1)。LMM显示,与非GDM相比,GDM与胎儿体重每周平均增加4.36克(95% CI [1.25,7.48])有关。GBTM 和 GEE 进一步显示,GDM 增加了胎儿体重轨迹的几率,占胎儿总体重轨迹的近 40%,归入高速组(aOR = 1.39,95% CI [1.03,1.88]),与出生体重增加 49.44 克(95% CI [11.41,87.48])相关。分组分析表明,所有这些差异仅在 GDMA1 妊娠中具有显著性(P < .05)。在双胎妊娠中,GDM(GDMA1)与妊娠期胎儿体重增加显著相关。然而,这种加速是轻微的,其意义有待进一步探讨。
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引用次数: 0
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Twin Research and Human Genetics
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