Tag: nevin manimala

BMC Pregnancy Childbirth. 2025 Dec 23;25(1):1317. doi: 10.1186/s12884-025-08467-2.

ABSTRACT

OBJECTIVES: To expand the clinical phenotype spectrum and improve the understanding of prenatal ultrasound manifestations and fetal prognosis of 16p13.11 deletion/duplication syndrome in the East Asian population.

METHODS: We conducted a comprehensive ultrasound phenotypic analysis, pedigree analysis and long-term postnatal outcome follow-up on 201 fetuses with 16p13.11 deletion/duplication, as well as on the phenotypic manifestations of 14 patients who underwent chromosomal microarray analysis between April 2013 and July 2024. Descriptive statistical analysis was used.

RESULTS: The detection rates were 0.08% and 0.18%, the frequencies of de novo occurrence were 26.9% and 14.5%, and the rates of abnormal postnatal phenotypes were 25% and 17.5% in our prenatal cohort of deletion and duplication, respectively. Overall, 28.6% of deletions and 15.9% of duplications exhibited abnormal postnatal phenotypes even if they were inherited from a phenotypically normal parent. Developmental delay was the most common clinical abnormality. Immune disorders, torticollis, concealed penis and cryptorchidism were closely related phenotypes that had previously gone unnoticed. Copy number variations extending to intervals I + II or II + III appeared to be associated with a broader range of phenotypes. Isolated choroid plexus cysts may be the most relevant ultrasound soft marker for deletion, whereas isolated thickened nuchal translucency appears to be more closely associated with duplication. Cardiovascular and urinary malformations were the most frequently detected ultrasound structural abnormalities.

CONCLUSION: The large East Asian prenatal cohort is conducive to enhancing genetic counseling for 16p13.11 deletion/duplication syndrome by facilitating a more accurate prediction of fetal prognosis and developmental potential.

PMID:41436988 | DOI:10.1186/s12884-025-08467-2

BMC Ophthalmol. 2025 Dec 23. doi: 10.1186/s12886-025-04586-8. Online ahead of print.

ABSTRACT

BACKGROUND: Differences between actual and programmed capsulotomy diameter were found in femtosecond laser-assisted cataract surgery (FLACS). This study aimed to evaluate the deviation between the programmed (PDC) and actual (ADC) diameters of the capsulotomy in FLACS, identify the influencing factors, and establish a predictive model to improve the accuracy of capsulotomy size.

METHODS: This retrospective study included 47 eyes from 47 adult patients who underwent FLACS. The ADC was measured using Image Pro Plus version 6.0 based on intraoperative video images, and the diameter deviation of the capsulotomy (DDC) was calculated by subtracting the PDC from the ADC. Correlation analysis was used to assess the relationships of demographics and ocular biometrics with ADC and DDC. Multiple linear regression was conducted to develop a model for predicting ADC.

RESULTS: The mean ADC (5.99 ± 0.34 mm) was significantly greater than the PDC (5.67 ± 0.15 mm, P < 0.001) in the overall cohort. The average DDC was 0.33 ± 0.31 mm, with 63.8% of eyes exhibiting a DDC greater than 0.20 mm. Correlation analysis showed that age was significantly negatively correlated with both ADC and DDC, and this correlation remained significant after adjusting for other ocular biometrics. Stepwise multiple linear regression identified age and PDC as independent predictors for ADC, yielding the following formula: ADC = 2.531 – 0.011·Age + 0.741·PDC (F = 14.265, P < 0.001; adjusted R² = 0.366, Durbin-Watson statistic = 2.294).

CONCLUSION: Age was identified as the most significant factor influencing DDC. The proposed regression model for ADC may aid surgeons in preoperative planning for a more accurate and individualized capsulotomy diameter.

PMID:41436985 | DOI:10.1186/s12886-025-04586-8

BMC Public Health. 2025 Dec 23;25(1):4286. doi: 10.1186/s12889-025-25463-5.

ABSTRACT

BACKGROUND: In recent years, the incidence of hypertension in children and adolescents has gradually increased, becoming a public health issue of global concern. Current evidence has established a correlation between body mass index (BMI) and blood pressure in adult populations, whereas the nature of this association remains inconclusive in pediatric population. Therefore, in this study, we explored the association between BMI and blood pressure in children and adolescents.

METHODS: This cross-sectional study included 8,157 children and adolescents aged 6-17 years in Zhangwu County, Liaoning Province. From February to September 2022, we collected the hypertension risk factor questionnaire and completed anthropometric measurements and blood pressure measurements. BMI was calculated as (weight (kg)/height (m)²), and categorized into four groups: underweight, normal weight, overweight and obesity based on percentile thresholds. Blood pressure was classified into normal blood pressure, prehypertension, stage one hypertension, and stage two hypertension in accordance with the definition criteria of the American Academy of Pediatrics. One-way analysis of variance (ANOVA), Kruskal-Wallis test, chi-square test, and ordinal logistic regression analysis were all performed to explore the correlation between BMI and blood pressure. SPSS 27.0 statistical software and SPSS AU were used for statistical analysis.

RESULTS: The overall prevalence of hypertension was 20.4%, with a prevalence of 19.9% in boys and 20.8% in girls. The blood pressure categories increased with the elevation of BMI categories (all P < 0.001). A significant association between BMI categories and blood pressure categories was observed in both the unadjusted model (prehypertension: OR = 5.01, 95%CI: 4.52-5.55; stage one hypertension: OR = 10.09, 95%CI: 9.03-11.26; stage two hypertension: OR = 108.54, 95%CI: 91.05-129.38; all P < 0.001) and the model adjusted for age and smoking (prehypertension: OR = 6.05, 95%CI: 4.91-7.46; stage one hypertension: OR = 12.20, 95%CI: 9.86-15.08; stage two hypertension: OR = 131.39, 95%CI: 102.02-169.20; all P < 0.001).

CONCLUSION: Overweight and obesity may represent a potential risk factor for high blood pressure in the pediatric population. These findings underscore the importance of early weight management to mitigate the long-term risk of cardiovascular diseases.

PMID:41436984 | DOI:10.1186/s12889-025-25463-5

BMC Pregnancy Childbirth. 2025 Dec 23. doi: 10.1186/s12884-025-08577-x. Online ahead of print.

ABSTRACT

BACKGROUND: Caesarean section (CS) is among the most frequently performed surgical procedures worldwide and is critical for reducing maternal and neonatal mortality. However, surgical site infections (SSIs) remain one of the most common postoperative complications, imposing substantial maternal morbidity, delaying recovery, and indirectly affecting neonatal health. Despite various infection prevention measures, the burden of SSIs is particularly high in low- and middle-income countries (LMICs). Emerging evidence suggests that implementing evidence-based care bundles can markedly reduce SSIs, but existing studies are fragmented and inconsistent, underscoring the need for a comprehensive synthesis.

OBJECTIVE: To evaluate the effectiveness of evidence-based care bundles in preventing SSIs following caesarean delivery.

METHODS: This systematic review and meta-analysis followed PRISMA 2020 guidelines (PROSPERO registration: CRD42024603854). A comprehensive search was conducted in PubMed, Cochrane Library, Scopus, Hinari, and Google Scholar using a PICO-based strategy. Eligible studies were critically appraised using the revised Joanna Briggs Institute (JBI) tools. Heterogeneity was assessed using the Galbraith plot, I² statistics, and Cochran’s Q test. Publication bias was examined with funnel plots and Egger’s test. A fixed-effects model was applied to calculate pooled risk ratios (RRs) with 95% confidence intervals (CIs).

RESULTS: A total of 21 studies involving 32,709 women who underwent CS were included. Pooled analysis demonstrated that implementation of evidence-based intervention bundles significantly reduced the incidence of post-CS SSIs from 5% (95% CI: 1-8%) before intervention to nearly 0% (95% CI: 0-1%) after intervention (RR: 0.29, 95% CI: 0.27-0.31). This represents a 71% relative reduction in SSI risk. In absolute terms, bundle implementation translated into thousands of preventable infections and avoided complications across diverse settings.

CONCLUSION: Evidence-based bundles are a highly effective, practical, and adaptable strategy for reducing SSIs following caesarean delivery. Their integration into routine obstetric care can substantially improve maternal recovery, support early neonatal care including breastfeeding, and decrease healthcare costs associated with prolonged hospital stays. Adoption of such bundles should be prioritized globally, with particular urgency in LMICs where the burden of post-CS SSIs is highest.

PMID:41436971 | DOI:10.1186/s12884-025-08577-x

BMC Infect Dis. 2025 Dec 23. doi: 10.1186/s12879-025-12378-0. Online ahead of print.

ABSTRACT

BACKGROUND: Pakistan ranks fifth among countries with the highest tuberculosis (TB) incidence worldwide, yet only approximately 70% of TB patients receive treatment. The World Health Organisation (WHO) recommends active TB case finding and TB preventive treatment (TPT) for household contacts (HHCs) following exclusion of active TB disease. We piloted the integration of WHO-recommended chest X-ray (CXR) screening and TPT for HHCs, with data collection via PREVENT-TB app.

METHODS: A mixed-method pilot study was conducted in 19 healthcare facilities in Hafizabad and Nankana Sahib districts of Punjab, Pakistan, from December 2021 to September 2023. It aimed to assess the acceptability and feasibility of a CXR based TB screening among HHCs, the initiation of TPT, and the feasibility of using a mobile application to document the intervention and its completeness. Descriptive statistics and binary logistic regression were used to analyse quantitative data. Thematic analysis was used to analyse semi-structured interviews with programme staff, healthcare providers and patients. Digital and paper-based data collection approaches were compared.

RESULTS: Among 694 index TB patients, 2817 HHCs were identified, of whom 1421 (50%) underwent CXR and symptom screening. A total of 118 (8%) screened HHCs had TB symptoms and/or CXR abnormalities and 5 (4%) were diagnosed with TB. Of the 1416 HHCs eligible for TPT, 957 (68%) initiated TPT, and among these 903 (94%) completed their treatment. The most common reason for refusal of screening and TPT was perceived lack of need by HHCs. Digital data collection was found to satisfactorily support both implementation and monitoring.

CONCLUSIONS: Integrating CXR screening and TPT into routine primary healthcare with digital monitoring are feasible.

PMID:41436960 | DOI:10.1186/s12879-025-12378-0

J Comput Biol. 2025 Dec 5. doi: 10.1177/15578666251392595. Online ahead of print.

ABSTRACT

Reconciliations are a mathematical tool to compare the phylogenetic trees of genes to the species that contain them, accounting for events such as gene duplication and loss. Traditional reconciliation methods have predominantly relied on parsimony to infer gene-only evolutionary events and usually make the hypothesis that genes evolve independently. Recently, more advanced models have been developed that account for complex gene interactions stemming from phenomena such as segmental duplications, where multiple genes undergo simultaneous duplication. In this article, we study the NP-hard problem of reconciling gene trees to a species tree with segmental duplications, without the aid of synteny information. We address this problem by proposing a novel probabilistic approach, imposing a Boltzmann distribution over the space of reconciliations. This allows for a Gibbs sampling-like Markov chain Monte Carlo algorithm that uses simulated annealing to effectively find or approximate the most parsimonious reconciliation, as demonstrated through rigorous simulations and re-analysis of empirical datasets. Our findings present a promising new framework for addressing NP-hard reconciliation challenges in phylogenetics, enhancing our understanding of gene evolution and its relationship with species evolution.

PMID:41433090 | DOI:10.1177/15578666251392595

Mol Hum Reprod. 2025 Dec 23:gaaf061. doi: 10.1093/molehr/gaaf061. Online ahead of print.

ABSTRACT

Endometriosis (EM) is a debilitating disease involving the growth of endometrial glands and stroma outside the uterus. To further our understanding of epigenomic dysregulation in EM and search for disease biomarkers, we performed a comprehensive evaluation of DNA methylation in eutopic endometrium (EE) and EM lesions. We undertook deconvolution analysis of DNA methylation data previously generated from endometrial aspirate biopsies obtained from 637 EM cases and 347 controls using microarray-based DNA methylation analysis. We further analyzed DNA methylation in EM lesions and paired EE samples via solution phase hybridization and DNA sequencing. For analysis of microarray data, we used a reference-free approach (BCconf) to recover latent factors and found high correlation with EM status, suggesting EE cell proportions vary between EM cases and controls. Deconvolution revealed that epithelial cells (p-value = 9.1 × 10-3) and fibroblasts (p-value = 0.022) were reduced in EM cases. Deconvolution of the sequencing data identified differences between EM lesions and EE of cases and controls, including vascular endothelial cells (false discovery rate [FDR]-adjusted p-value = 6.1 × 10-3; more abundant in EM lesions), natural killer cells (FDR-adjusted p-value = 0.031; less abundant in EM lesions) and ovarian/endometrial epithelium (FDR-adjusted p-value = 3.2 × 10-3). We detected significant differences in cell type proportion between EE samples of cases and controls. Improved reference data for de convolution to inform more intelligent region targeting approaches will provide further insight into the molecular phenotype of EM and may inform novel approaches for minimally invasive detection.

PMID:41433079 | DOI:10.1093/molehr/gaaf061

JMIR Form Res. 2025 Dec 23;9:e68282. doi: 10.2196/68282.

ABSTRACT

BACKGROUND: The clinical and cost-related consequences of internet-based depression screening, in combination with automated feedback, have been rarely investigated. We aimed to conduct a cost-effectiveness analysis of DISCOVER, a 3-armed, observer-masked, randomized controlled trial that focused on 2 versions of automated feedback interventions after internet-based depression screening.

OBJECTIVE: This study aimed to evaluate the cost-effectiveness of automated nontailored and tailored feedback interventions after internet-based depression screening from a societal perspective.

METHODS: Participants were recruited from the general population via traditional and social media. Participants who were undiagnosed but screened positive for depression on an online version of the Patient Health Questionnaire-9 (≥10 points) were randomized to automatically receive no feedback, nontailored feedback, or tailored feedback. The feedback interventions included the depression screening result, a recommendation to seek professional advice, and brief general information about depression. The tailored feedback was additionally framed according to the participants’ symptom profiles, treatment preferences, health insurance plans, and local residency. The time horizon was 6 months. The main outcome was the incremental cost-effectiveness ratio (ICER) from a societal perspective using quality-adjusted life years (QALY) based on the EuroQol-5D-5L. Cost-effectiveness acceptability curves were constructed. Furthermore, several sensitivity analyses and explorative subgroup analyses were conducted.

RESULTS: A total of 1012 participants (no feedback: n=343, 33.9%; nontailored feedback: n=338, 33.4%; and tailored feedback: n=331, 32.7%) were included. Differences in costs and effects were not statistically significant. However, ICER results indicated that both no feedback and tailored feedback exhibited dominance over nontailored feedback. The ICER of tailored feedback compared to no feedback was €109,730 per QALY (a currency exchange rate of €1=US $1.02 was applicable as of December 31, 2022), whereas both costs and QALYs were lower in tailored feedback. The cost-effectiveness probability of tailored feedback compared to no feedback ranged between 41% and 80%. Sensitivity analyses exhibited similar trends.

CONCLUSIONS: Six months postintervention, feedback interventions had no statistically significant effect on costs from a societal perspective or on QALYs. Tailored feedback was associated with moderate cost-effectiveness probabilities compared to no feedback. Explorative subgroup analyses revealed subpopulations for which the interventions might be cost-effective.

PMID:41433057 | DOI:10.2196/68282

JMIR Med Educ. 2025 Dec 23;11:e78857. doi: 10.2196/78857.

ABSTRACT

BACKGROUND: Virtual simulated patients (VSPs) powered by generative artificial intelligence (GAI) offer a promising tool for training clinical interviewing skills; yet, little is known about how different system- and user-level variables shape students’ perceptions of these interactions.

OBJECTIVE: We aim to study psychology students’ perceptions of GAI-driven VSPs and examine how demographic factors, system parameters, and interaction characteristics influence such perceptions.

METHODS: We conducted a total of 1832 recorded interactions involving 156 psychology students with 13 GAI-generated VSPs configured with varying temperature settings (0.1, 0.5, 0.9). For each student, we collected age and sex; for each interview, we recorded interview length (total number of question-answer turns), number of connectivity failures, the specific VSP consulted, and the model temperature. After every interview, students provided a 1-10 global rating and open-ended comments regarding strengths and areas for improvement. At the end of the training sequence, they also reported perceived improvement in diagnostic ability. Statistical analyses assessed the influence of different variables on global ratings: demographics, interaction-level data, and GAI temperature setting. Sentiment analysis was conducted to evaluate the VSPs’ clinical realism.

RESULTS: Statistical analysis showed that female students rated the tool significantly higher (mean rating 9.25/10) than male students (mean rating 8.94/10; Kruskal-Wallis test, H=8.7; P=.003). On the other side, no significant correlation was found between global rating and age (r=0.02, 95% CI -0.03 to 0.06; P=.42), interview length (r=0.04, 95% CI -0.2 to 0.10; P=.18), or frequency of participation (Kruskal-Wallis test, H=4.62; P=.20). A moderate negative correlation emerged between connectivity failures and ratings (r=-0.26, 95% CI -0.41 to -0.10; P=.002). Temperature settings significantly influenced ratings (Kruskal-Wallis test, H=6.93; P=.03; η²=0.02), with higher scores at temperature 0.9 compared with 0.1 (Dunn’s test, P=.04). Concerning learning outcomes, self-perceived improvement in diagnostic ability was reported by 94% (94/100) of students; however, final practical examination scores (mean 6.67, SD 1.42) did not differ significantly from those of the previous cohort without VSP training (mean 6.42, SD 1.56). Sentiment analysis indicated predominantly negative sentiment in GAI responses (median negativity 0.8903, IQR 0.306-0.961), consistent with clinical realism.

CONCLUSIONS: GAI-driven VSPs were well-received by psychology students, with student gender and system-level variables (particularly temperature settings and connection stability) shaping user evaluations. Although participants perceived the training as beneficial for their diagnostic skills, objective examination performance did not significantly differ from the previous cohort. However, lack of randomization limits the generalization of the results obtained, and further experiments are required.

PMID:41433050 | DOI:10.2196/78857

J Int Soc Sports Nutr. 2026 Dec 31;23(1):2605338. doi: 10.1080/15502783.2025.2605338. Epub 2025 Dec 23.

ABSTRACT

BACKGROUND: Protein supplements are a popular category of dietary supplements among fitness enthusiasts and athletes. However, research providing definitive conclusions on the effects of protein on athletic performance and post-exercise recovery remains limited. Key factors, such as protein source, timing, and optimal dosage, require further investigation to clarify their impact.

METHOD: A systematic search across seven databases identified 6,129 studies, which were screened using the Covidence online tool. After independent selection, data extraction, and risk of bias assessment by two reviewers, 75 studies involving 1,206 athletes were included in the meta-analysis. A multilevel meta-analysis synthesized data from the included studies using a Bayesian hierarchical model with the brms package. Publication bias was assessed using a funnel plot generated with the PublicationBias package and by calculating the P value of Egger’s test through the metafor package. Additionally, a moderation analysis with the brms package was conducted to examine the relationship between seven moderators and effect sizes.

RESULTS: The results demonstrated that the effects of protein-carbohydrate supplements showed statistical significance in comparison to the placebo group [μ(SMD): 0.57, 95% CI: 0.2 to 0.93] in enhancing endurance performance. Pure protein supplements demonstrated statistically significant effects compared to the placebo group in both endurance performance [μ(SMD): 0.37, 95% CI: 0.02 to 0.71] and muscle strength [μ(SMD): 0.72, 95% CI: 0.18 to 1.27]. For post-exercise recovery, pure protein supplements also showed statistically significant effects compared to carbohydrate supplements for maintaining glycogen resynthesis [μ(SMD): 0.83, 95% CI: 0.21 to 1.46]. However, the results indicated that all significant effects were observed in randomized controlled trials where the energy intake between the intervention and control groups was not matched.

CONCLUSION: The effects of protein supplementation on athletic performance and post-exercise recovery appear to be limited. Protein supplements showed beneficial effects compared to no supplementation. However, all statistically significant results were derived from studies in which energy intake was not matched between groups. This suggests that the observed benefits may not be attributable to protein per se. An additional intake of 1 g/kg/day of protein from supplements, resulting in a total daily protein intake of approximately 2 g/kg/day, appears to be most effective for enhancing athletic performance.

REGISTRATION: Registered at the International Prospective Register of Systematic Reviews (PROSPERO) (identification code CRD42024608194).

PMID:41433039 | DOI:10.1080/15502783.2025.2605338