Tag: statistics

G3 (Bethesda). 2025 Dec 16:jkaf304. doi: 10.1093/g3journal/jkaf304. Online ahead of print.

ABSTRACT

Gene-environment interactions (G×E) have been shown to explain a non-negligible proportion of variance for a plethora of complex traits in different species, including livestock, plants, and humans. While several studies have shown that including G×E can improve prediction accuracy in agricultural species, no increase in accuracy has been observed in human studies. In this work, we sought to investigate the scenarios in which accounting for G×E is expected to improve prediction accuracy. Model organisms are useful for studying G×E, since environments can be defined precisely, and genotypes can be replicated across environments, which are ideal conditions to minimize confounding in G×E analyses. Thus, we used data from an experiment in Drosophila melanogaster, where researchers measured lifespan in different environments for unrelated inbred lines (i.e., genotypes). We used three different cross-validation (CV) scenarios that mimic different relationships between reference and test populations, and fitted a few statistical models with and without including G×E. The results showed that G×E explained 8% of lifespan variance. Despite that, models accounting for G×E improved prediction accuracy only in CV scenarios where the same genotypes are observed in both the reference and test populations. While these scenarios are common in agriculture, where individuals of the same family or variety appear in both populations, they are not commonly encountered in human studies, where individuals are unrelated. Thus, our work shows in which prediction scenarios we can expect improvements by accounting for G×E, and may provide a potential reason (among others) for results of human studies.

PMID:41402999 | DOI:10.1093/g3journal/jkaf304

Ital J Pediatr. 2025 Dec 16;51(1):320. doi: 10.1186/s13052-025-02156-8.

NO ABSTRACT

PMID:41402982 | DOI:10.1186/s13052-025-02156-8

BMC Oral Health. 2025 Dec 16. doi: 10.1186/s12903-025-07315-1. Online ahead of print.

ABSTRACT

BACKGROUND: Sickle cell disease is a major public health issue that is associated with caries and oral health problems. This study aimed to assess the association between dental caries experience and sickle cell anaemia.

METHODS: This was a case-control study that recruited children aged 4 to 16 years old with sickle cell anaemia (SCA) and those with normal haemoglobin genotype attending the Paediatric outpatient clinic of the Obafemi Awolowo University Teaching Hospitals’ Complex. Data collected included confounders (age, sex, socio-economic status, frequency of toothbrushing, use of fluoridated toothpaste, frequency of consumption of refined carbohydrate in-between-meals daily, history of dental service utilization, and oral hygiene status), dependent (dental caries experience), and independent (SCD status) variables. Multiple logistic regression was conducted to determine the association between sickle cell disease and dental caries experience after adjusting for the confounding factors.

RESULTS: There were 264 participants with a mean age of 9.41 ± 3.35 years. Thirty-nine children (14.8%) had dental caries: twenty-eight (13.5%) in the primary dentition and eleven (5.0%) in the permanent dentition. Although the differences were not statistically significant, the caries experience of children with sickle-cell anaemia was twice those without with normal haemoglobin genotype, both in the primary (17.9% vs. 8.9%, p = 0.058) and permanent (6.6% vs. 3.5%, p = 0.361) dentition. The presence of SCA and dental service utilization were significantly associated with dental caries (p = 0.04 and 0.001, respectively).

CONCLUSION: Sickle cell anaemia and dental service utilization were significantly associated with caries in the children. Children with SCA should be screened early for caries and preventive measures instituted.

PMID:41402964 | DOI:10.1186/s12903-025-07315-1

BMC Oral Health. 2025 Dec 16. doi: 10.1186/s12903-025-07511-z. Online ahead of print.

ABSTRACT

OBJECTIVES: This study aimed to evaluate the clinical, radiographic, and histopathological characteristics of simple bone cysts and to investigate the relationships among these parameters.

METHODS: A total of 46 cases diagnosed with SBC were included in this retrospective study, analyzing clinical, radiological, histopathological, and treatment data, as well as recurrence. Radiographic evaluations were performed using panoramic imaging and/or cone-beam computed tomography. Associations among clinical, radiological, and histopathological variables were analyzed using chi-square and Fisher’s exact tests.

RESULTS: The results showed a slight female predilection and a predominant occurrence in the second decade of life. All lesions were located in the mandible, most commonly in the posterior region. Radiographically, lesions were typically unilocular radiolucencies, often with scalloped borders (63.1%) and pseudosepta (56.5%). Histopathologically, fragmented normal bone and fibrous septa were the most frequent findings. Curettage was the most common treatment, and no recurrences were observed. Correlation analyses demonstrated significant associations between multilocular appearance and vascular connective tissue (66.7% vs. 5.9%, p = 0.008), and between lesion size and age, with larger lesions predominantly seen in patients under 20 years, while all patients over 20 years had small lesions (p = 0.002). Although other associations did not reach statistical significance, inflammatory changes were more frequent in symptomatic cases (28.6% vs. 9.4%), and both hemosiderin deposition (25% vs. 10.9%) and vascular connective tissue (21.4% vs. 6.3%) tended to be more common in trauma-associated cases.

CONCLUSIONS: SBCs most often present as well-defined, unilocular radiolucencies in the posterior mandible; however, internal variations such as pseudosepta and radiopaque areas may complicate their appearance and highlight the need for careful differential diagnosis from more aggressive lesions. Correlation analyses indicated that multilocular radiographic appearance was linked to vascular connective tissue and lesion size was age-dependent, suggesting that clinical, radiological, and histopathological features are interrelated and should be evaluated together.

PMID:41402962 | DOI:10.1186/s12903-025-07511-z

Diabetol Metab Syndr. 2025 Dec 16. doi: 10.1186/s13098-025-02058-z. Online ahead of print.

ABSTRACT

OBJECTIVE: To investigate the separate, joint, as well as interactive associations of serum 25-hydroxyvitamin D [25(OH)D] concentrations and oxidative balance score (OBS) with mortality among individuals with metabolic syndrome (MetS).

METHODS: The analysis included 12,078 participants with MetS from the National Health and Nutrition Examination Survey (NHANES) 2001-2018. Mortality was ascertained by linkage to National Death Index records through 31 December 2019.

RESULTS: During 99,690 person-years of follow-up, 2357 deaths were documented, including 654 cardiovascular disease (CVD) deaths and 518 cancer deaths. A pronounced “L-shaped” nonlinear relationship was observed between 25(OH)D and mortality; the hazard ratio (HR) [95% confidence interval (CI)] for 25(OH)D ≥ 75.0 vs. < 50.0 nmol/L (reference) were 0.71 (0.61, 0.82), 0.65 (0.48, 0.86), and 0.77 (0.57, 1.05) for all-cause, CVD, and cancer mortality, respectively. A reverse linear relationship was demonstrated between OBS and mortality; the HRs (95% CI) for high OBS vs. low OBS (reference) were 0.76 (0.68, 0.86), 0.70 (0.58, 0.85), and 0.75 (0.60, 0.94) for all-cause, CVD, and cancer mortality, respectively. In the joint analyses, the combination of 25(OH)D ≥ 75.0 nmol/L and high OBS was associated with the lowest risk of all-cause (HR 0.57, 0.46-0.70) and CVD mortality (HR 0.48, 0.34-0.69). In contrast, participants with 25(OH)D levels of 50.0-74.9 nmol/L and high OBS presented the lowest risk of cancer mortality (HR 0.52, 0.34-0.81). A significant synergistic additive interaction between OBS and sufficient 25(OH)D levels on CVD mortality was observed [relative excess risk due to interaction (RERI) = 0.29, 95% CI: 0.02-0.57], with 47% of the total protective effect attributable to their interaction.

CONCLUSIONS: Adequate 25(OH)D and higher OBS are significantly associated with lower risk of mortality and exhibit enhanced protective effects on CVD mortality risk.

PMID:41402956 | DOI:10.1186/s13098-025-02058-z

Pilot Feasibility Stud. 2025 Dec 16. doi: 10.1186/s40814-025-01751-0. Online ahead of print.

ABSTRACT

BACKGROUND: Muscle-strengthening activity (MSA) is beneficial for school-aged children, but most school-based MSA interventions have been delivered by external specialists or research staff, limiting scalability. We aimed to assess the feasibility of a teacher-delivered MSA intervention for children in advance of a future efficacy trial.

METHODS: We conducted a single-group feasibility trial with two Stage 2 (i.e. grade 3-4) classes from one primary school in New South Wales, Australia. The 6-week Muscle Movers intervention included (i) enhanced PE lessons focused on foundational MSA skills (1 × 45 min/week), (ii) classroom energiser breaks (2 × 5 min/week), and (iii) active homework tasks (1 × 10 min/week). We assessed acceptability, implementation, adaptation, and practicality using survey and interview methods. We also assessed pre-post change in children’s perceived strength, upper-body muscular endurance, and lower-body muscular power. Data were analysed in SPSS (V.25) using descriptive statistics and paired-samples t-tests, with Cohen’s d as a measure of effect size.

RESULTS: Two female teachers (31 and 59 years) and 30 students (mean [SD] = 9.8 [0.6] years; 40% female) were enrolled. Acceptability was high for teachers (mean [SD] = 5.0 [0.0] out of 5) and students (mean [SD] = 4.1 [1.0] out of 5). Teachers implemented all PE lessons and more than double the intended energiser breaks (mean [SD] = 5.5 [2.1] per week). Conversely, homework task assignment (mean [SD] = 5.0 [1.4]) and completion (mean [SD] = 2.5 [0.7]) were lower than intended. Teachers reported high confidence to deliver the program and viewed it as practical and adaptable. We found a moderate increase in children’s push-up performance (mean [95%CI] = 2.2 repetitions [0.7 to 3.8]; d = 0.61), but no meaningful changes in perceived strength (mean [95%CI] = 0.1 units [- 0.1 to 0.4]; d = 0.22) or standing long jump (mean [95%CI] = – 1.4 cm [- 7.4 to 4.7]; d = – 0.09).

CONCLUSIONS: Muscle Movers was feasible for classroom teachers to implement in a primary school setting. The observed improvement in students’ upper-body muscular endurance should be confirmed using an appropriately powered randomised controlled trial.

TRIAL REGISTRATION: Retrospectively registered with the Australian and New Zealand Clinical Trials Registry (ACTRN12625000703404).

PMID:41402953 | DOI:10.1186/s40814-025-01751-0

Adv Rheumatol. 2025 Dec 17. doi: 10.1186/s42358-025-00510-2. Online ahead of print.

ABSTRACT

BACKGROUND: Oxidative stress and inflammation contribute to telomere length (TL) attrition, a hallmark of cellular senescence. Systemic lupus erythematosus (SLE) is associated with premature cellular aging; however, the clinical relevance of TL shortening remains unclear. This study aimed to compare the relative TL of SLE patients and healthy controls and explore its association with clinical features and disease burden.

METHODS: We conducted a cross-sectional study including adult SLE patients and age- and sex-matched healthy controls (18-60 years). Demographic and clinical data were collected, and TL was measured using quantitative polymerase chain reaction (qPCR). Among SLE patients, disease activity, cumulative damage, fatigue, depression, anxiety, stress, and physical activity were also assessed. Statistical analyses included descriptive statistics, Student’s t-test or Mann-Whitney test for group comparisons, Spearman’s correlation, and multiple linear regression models selected based on the lowest Akaike information criterion (AIC).

RESULTS: Sixty SLE patients (37 years ± 11.5) and 55 controls (38 years ± 10.5) were enrolled. SLE patients exhibited significantly shorter TL [median (IQR): 0.80 (0.29-2.94)] compared to controls [1.07 (0.38-2.32); p = 0.005]. In multivariate analysis, moderate anxiety was associated with shorter TL compared to none/low anxiety [β= -0.353 (95%CI: -0.645; -0.061); p = 0.019]. An alternative model indicated that moderate stress was also associated with reduced TL [β= -0.411 (95%CI: -0.771; -0.050); p = 0.026]. No significant associations were found between TL and disease activity or cumulative damage.

CONCLUSIONS: SLE patients presented significantly shorter telomeres than healthy controls, with anxiety and stress symptoms contributing to TL attrition. Longitudinal studies are warranted to elucidate the clinical implications of TL shortening in SLE.

PMID:41402941 | DOI:10.1186/s42358-025-00510-2

Eur J Med Res. 2025 Dec 16. doi: 10.1186/s40001-025-03594-0. Online ahead of print.

ABSTRACT

AIM: The prevalence of metabolic-associated fatty liver disease (MAFLD) is rapidly increasing, posing a pressing challenge to global health. The purpose of this study is to establish a predictive model based on the immunoinflammatory marker, the albumin-gamma-glutamyl transferase ratio (AGTR), to facilitate the early recognition and risk assessment of MAFLD.

METHODS: This study used data from 2331 participants in the NHANES database from 2017 to 2018. LASSO and logistic regression analyses were employed to identify risk factors and to establish a nomogram prediction model for MAFLD. External validation was conducted using data from the NHANES 2021-2023. Sensitivity analysis was employed to investigate the independent predictive value of AGTR for MAFLD.

RESULTS: The results indicated that among 67 variables, BMI, waist-to-hip ratio, waist circumference, AGTR and the triglyceride-glucose index (TyG) were all independent influencing factors for MAFLD. These risk factors were used to create a nomogram prediction risk model, which had AUCs for the training set, internal validation and external validation sets of 0.847 (95% CI 0.830-0.866), 0.834 (95% CI 0.806-0.863) and 0.851 (95% CI 0.834-0.868), respectively. The Hosmer-Lemeshow test p values were all greater than 0.05. Calibration and DCA indicate that the predictive model possesses good consistency and clinical validity. The sensitivity analysis revealed that AGTR remained an independent predictor following adjustment for demographic and lifestyle confounders.

CONCLUSIONS: As an independent immune-inflammatory predictor of MAFLD, early monitoring of AGTR may be crucial for predicting the emergence of MAFLD. Meanwhile, the nomogram model established in this study can identify high-risk patients for MAFLD.

PMID:41402919 | DOI:10.1186/s40001-025-03594-0

Biol Sex Differ. 2025 Dec 16. doi: 10.1186/s13293-025-00804-6. Online ahead of print.

ABSTRACT

OBJECTIVES: A scoping review was conducted to investigate knowledge gaps in the informatics research literature regarding sex differences in cognitive decline and impairment, identifying existing studies and areas requiring further exploration.

METHODS AND MATERIALS: Our scoping review follows the Preferred Reporting Items for Systematic reviews and Meta-Analysis Extension for Scoping Reviews (PRISMA – ScR) guidelines. We searched Ovid and other databases (APA PsychInfo, EMB Reviews, and Embase) for studies on sex differences in cognitive decline and impairment, focusing on peer-reviewed informatics journals and conference proceedings from 2000 to 2025. The selected manuscripts were analyzed based on metadata statistics, study attributes, and thematic content.

RESULTS: A total of 17 full articles met the inclusion criteria. Most studies were conducted in North America (n = 7) and the European Union (n = 5). More than half of the studies were published after 2020 (n = 10). Our analyses highlight key aspects of selected studies, including bibliometric metadata, study attributes (e.g., study types, methods, and data sources), and thematic findings. Statistical modeling (n = 8) and machine learning (n = 4) are the most widely used study methods. Majority (n = 11) of the publications are single-site studies, while the other multi-site collaborations (n = 6) have emerged among hospitals, academic institutions, and research institutions.

DISCUSSION: Sex-specific disparities in cognitive decline and impairment remain a critical issue in healthcare. Most informatics research has primarily concentrated on identifying generic sex differences in cognitive decline and impairment progression, rather than exploring the complex underlying mechanisms such as observational studies with causal analysis. While these studies are valuable, they lack a holistic approach to understanding sex-specific disparities.

CONCLUSION: There is a significant gap in using informatics to understand how biological, social, and behavioral factors contribute to sex-specific disparities in cognitive decline and impairment. This limitation underscores the need for more comprehensive informatics research that goes beyond mere identification to find the root cause of these disparities in healthcare.

PMID:41402904 | DOI:10.1186/s13293-025-00804-6

BMC Res Notes. 2025 Dec 16. doi: 10.1186/s13104-025-07600-w. Online ahead of print.

ABSTRACT

OBJECTIVE: Human leptospirosis is an endemic disease in northern Iran. residents of northern provinces are at increased risk of exposure to Leptospira due to the region’s unique geographical characteristics, occupational patterns, cultural practices, lifestyle, and recreational activities, all of which contribute to the higher burden of the disease in this area. Therefore, this study aimed to examine the epidemiological patterns of leptospirosis in Babol County over six years (2019-2024).

RESULTS: During the study period, 344 cases of human leptospirosis were reported. Of these, 86.0% occurred in males, and 70.3% of the cases were among rural residents. Among occupational groups, agricultural workers exhibited the highest frequency, with 42.4% of cases occurring among rice farmers and 22.1% among other farmers. The crude and age-standardized incidence rates of leptospirosis in 2019 were 10.1 and 8.1 per 100,000 population, respectively. These rates showed an increasing trend over the study period, reaching 17.3 and 14.4 per 100,000 population in 2024. The upward trend was statistically significant (P < 0.001). During the study period, the highest incidence was observed in May, with a rate of 2.9 per 100,000 population.

PMID:41402902 | DOI:10.1186/s13104-025-07600-w