Structural equation modeling (SEM) is a flexible statistical technique with multiple applications, including behavioral genetics and social sciences. Building on the original design of the umx package, which improved accessibility to OpenMx by specifying a concise syntax, umx v4.5 extends functionality for longitudinal and causal twin designs while improving interoperability with graphical modeling tools such as Onyx. New capabilities include: classic and modern cross-lagged panel models; Mendelian Randomization Direction-of-Causation (MR-DoC) twin models incorporating polygenic scores as instruments; support for definition variables directly in umxRAM(); a workflow for importing paths from Ωnyx; a dedicated function for incorporating censored variables’ data into models, particularly valuable in biomarker research; improved covariate placeholder handling for definition variables; sex-limitation modeling across five twin groups, accommodating quantitative and qualitative sex differences; and covariate residualization in wide- or long-format data. These new functionalities accelerate reproducible, reliable, publication-ready twin and family modeling, and integrated journal-quality reporting, thereby lowering barriers to genetic epidemiological analyses

The Janus kinase (JAK)-Signal Transducer and Activator of Transcription (STAT) pathway is essential for cellular signal transduction, regulating immune responses, hematopoiesis, and cell proliferation. Dysregulation of JAK-STAT signaling due to genetic variations, particularly missense mutations, has been implicated in autoimmune disorders, cancers, and hematological malignancies. This study investigates missense mutations in JAK and STAT genes, focusing on disease-associated single nucleotide polymorphisms (SNPs) and ClinVar benign variants identified in the All of Us and COSMIC databases. We analyzed the distribution of these mutations across functional domains, their structural localization, and biochemical properties. We identified mutation hotspots within specific domains, highlighting their correlation with disease phenotypes. Structural mapping revealed that disease-associated SNPs predominantly localize in linker regions and at the boundaries of secondary structures, suggesting a significant impact on folding, stability, and function of JAK and STAT proteins. Additionally, we examined the genomic context of mutations and identified vulnerable sequences; for example, ‘GATC’. Furthermore, our analysis found no predominant association between potential CRISPR-Cas9 target sites and ClinVar benign/disease-associated SNPs. The analysis of amino acid sequence patterns surrounding mutations uncovered an enrichment of hydrophobic residues leucine (Leu), isoleucine (Ile), methionine (Met), and phenylalanine (Phe) in close proximity to disease-associated mutations. Our findings emphasize the importance of structural and biochemical context in determining pathogenicity. In this study, we provide a bioinformatic strategy for refining variant classification and understanding the roles of JAK-STAT pathway mutations in disease.

The objective of this study was to investigate the gene-breastfeeding interaction on BMI based on the Chinese National Twin Register (CNTR). The study included 4,573 pairs of same-sex twins aged 2–18 from CNTR. Data were collected using a self-reported questionnaire, and a structural equation model was used to analyze the gene-environment interaction of breastfeeding with BMI in six age groups. Our findings indicate that as age increases, the heritability of BMI shows an increasing trend, being the lowest (h2: 0.08; 95% CI [0.00, 0.19]) in the 6- to 8-year age group and the highest (h2: 0.57, 95% CI [0.44, 0.72]) in the 12- to 14-year age group. Additionally, breastfeeding significantly modified the additive genetic component of BMI in the 6- to 8-year age group and 12- to 14-year age group. In the 6- to 8-year age group, breastfeeding decreased the impact of genes on BMI, with a genetic effect modification coefficient (βa) of −0.19 (−0.25, −0.13). In the 12- to 14-year age group, breastfeeding increased the impact of genes on BMI, with a genetic effect modification coefficient (βa) of 0.08 (0.02, 0.15). In conclusion, as age increases, the genetic influence on children’s BMI becomes more pronounced. Breastfeeding may modulate genetic effects at the ages of 6–8 and 12–14. Given the metabolic diversity of obesity, our findings offer insight into how breastfeeding interacts with genetic background, helping to unravel the complex gene–environment interplay influencing obesity.

India’s rising twin birth rate, driven by assisted reproductive technologies and delayed childbearing, generates approximately 30,000−40,000 twin pairs annually, yet this invaluable research resource remains systematically underutilized. While established twin registries in the United Kingdom, Australia, and Nordic countries have transformed understanding of disease heritability and gene-environment interactions, India, despite its 1.4 billion population and exceptional genetic diversity, lacks a coordinated infrastructure to capitalize on this scientific opportunity. Twin studies provide nature’s ideal control experiment, enabling researchers to disentangle genetic predisposition from environmental influences through comparison of monozygotic and dizygotic pairs, with discordant twins offering particularly powerful insights into modifiable risk factors. India’s extraordinary genetic heterogeneity, encompassing over 4600 distinct population groups, coupled with rapid environmental transitions including urbanization, dietary shifts, and pollution exposure, creates unparalleled natural experiments for investigating conditions demonstrating marked interpopulation variation such as type 2 diabetes, cardiovascular disease, and neuropsychiatric disorders. Establishing a National Twin Registry through a federated model linking existing birth registries with opt-in research participation, leveraging digital health infrastructure like Ayushman Bharat Digital Mission, would require modest investment while generating insights applicable across the disease spectrum. Initiating pilot registries in states with robust health systems such as Kerala, Tamil Nadu or Karnataka would enable iterative refinement before national expansion. International collaborations with established registries could accelerate development while preserving data sovereignty through robust governance frameworks. A National Twin Registry represents a strategic imperative for transitioning India from a research subject pool to a research leader in precision medicine, enabling Indian investigators to drive discovery addressing India-specific health priorities.

The purpose of this cross-sectional study was to investigate knowledge about multiple-birth families among midwives and public health nurses working in maternity and child health clinics in Finland. The data were collected with a Finnish language questionnaire in spring 2022. Because relevant questionnaires did not exist, we created a new questionnaire based on existing knowledge and practices. The questionnaire assessed three themes of multiple-birth knowledge relevant for the target population. The response rate was 50% and the number of respondents was 72. A total of 92 items were assessed and these showed high levels of consistency within themes. The respondents had substantial variation in their levels of multiple-birth family knowledge concerning different themes (Kruskal-Wallis test, p < .001). Post-hoc pairwise comparisons revealed many significant differences between themes, the two themes of knowledge of speech development of twins and breast feeding having the lowest level of knowledge, while interaction and support expected by the parents having the highest level of knowledge. The respondents had good knowledge of only five themes of multiple-birth family knowledge. Of all the themes, only knowledge about breast feeding was not significantly related to other themes, except for a weak correlation (r = .264, p < .05) with knowledge about caring for twins and understanding the situation. The age, educational level and work experience of respondents did not significantly affect their scores (all p > .1). Although the respondents had knowledge about early interaction, bonding and supporting the growth and development of child, its application is insufficient or lacking because of the special needs of multiple birth families. Further research is required on the effectiveness of training interventions and on nursing in different nursing contexts.

The aim of this study was to evaluate fetal survival and neonatal outcomes following fetoscopic laser ablation (FLA) for twin-to-twin transfusion syndrome (TTTS). This retrospective study included 106 TTTS pregnancies treated with FLA at Harapan Kita Women and Children Hospital, from January 2016 to January 2025. Maternal and neonatal data were collected from medical records. Fetal survival, gestational age, and neurodevelopmental outcomes were assessed. Quintero staging was used to classify TTTS severity. Statistical analysis used the Mann‒Whitney-U test for continuous variables and the chi square test for categorical variables. Among the 106 pregnancies, 93 (87.73%) had at least one surviving fetus, and 82 (77.35%) had both fetuses that survived the procedure. The highest proportion of double fetal survival was observed in Quintero stage 2 (35/82, 42.68%), whereas double fetal death was most frequently observed in stage 3 (7/13, 53.84%) and stage 4 (4/13, 30.76%) (p = .003). Neonates surviving to 28 days were born at a significantly higher gestational age than nonsurvivors (32.25 ± 2.95 vs. 27.62 ± 2.68 weeks, p < .001; OR 1.70, 95% CI [1.40, 2.10]). The neonatal survival rate at 28 days was 44.87%. Brain injury was observed in 52.17% of the screened infants and long-term neurodevelopmental follow-up was documented in 8 infants, with 2 showing delayed milestones. Quintero stage at the time of the procedure, prematurity, and growth restriction were significantly associated with neonatal survival outcomes. Early detection, timely intervention, and long-term follow-up are essential to optimize outcomes and address potential developmental delays.

Monozyotic (MZ) twins reared together are typically raised in the same religion, as are all children in a family. However, a young pair of MZ male twins, raised together, but with different religions, was identified and raises interesting issues that warrant consideration. This case, as well as those of reared-apart MZ twins who adopt different religions due to their family background or other circumstances, are summarized. A review of recent and current twin research follows. The studies included here concern language development in a pair of dizygotic (DZ) female twins, the second case of MZ twins with presumed Hallermann-Streiff syndrome, and the use of digital twins to advance asthma research. The final entry in the research section describes parents’ responses to their twin children’s misdiagnosed zygosity. Human interest stories involving twins — some entertaining, but all informative — include a pen that saved nontwin Holocaust children by assigning them as twins, identical twin Jeopardy winners, twin hostages freed from Gaza, loss of a twin son, fraternal twin mountaineers, twin sailors in the Sydney to Hobart Yacht Race, and the twin Patron Saints of Cobblers.