Category: Statistics

Bone Marrow Transplant. 2025 Dec 23. doi: 10.1038/s41409-025-02765-1. Online ahead of print.

ABSTRACT

Mutations in the DNMT3A gene are not yet classified as a distinct prognostic group in the latest European Leukemia Net (ELN) 2022 genetic risk classification of AML. We analyzed 1888 adult AML patients with ELN 2022 intermediate- or poor-risk cytogenetics who received their first allo-transplant in first complete remission between 2015 and 2022. Among patients with cytogenetically normal AML, the triple-positive mutation group (DNMT3A, NPM1, and FLT3-ITD) was the most frequent (n = 340, 29%), while DNMT3A co-occurrence with either FLT3 or NPM1 mutations alone was less common (4% and 9%, respectively). Patients with DNMT3A mutations were less likely to have a secondary AML (14% versus 24%, p < 0.001). DNMT3A mutations negatively affected post-transplant leukemia-free survival (LFS) in patients with normal karyotype and NPM1 mutation without FLT3-ITD (2-year LFS: 70% versus 90%, hazard ratio [HR]: 3.3, p = 0.006), and increased relapse incidence (RI) in FLT3-ITD and wild-type NPM1 subgroup (2-year RI: 30% versus 18%, HR: 2.32, p = 0.03). Notably, patients with normal karyotype and triple-positive mutation exhibited excellent 2-year LFS and OS (61% and 70%), indicating that allo-transplant overcomes the dismal outcome of this group. The impact of DNMT3A mutations on post-transplant outcomes in AML patients in first remission varies based on karyotype and co-mutations.

PMID:41437149 | DOI:10.1038/s41409-025-02765-1

BMC Sports Sci Med Rehabil. 2025 Dec 23. doi: 10.1186/s13102-025-01476-w. Online ahead of print.

ABSTRACT

BACKGROUND: Volleyball requires repeated explosive actions, agility, and technical precision, demanding contributions from both aerobic and anaerobic energy systems. Time-efficient training methods such as resistance-based high intensity interval training (HIIT) and high intensity functional training (HIFT) have been proposed to enhance multidimensional performance in young athletes. However, direct comparisons of their effects in adolescent female volleyball players are limited.

METHODS: Thirty-two licensed female volleyball players (aged 15-18 years) were randomly assigned to a resistance-based HIIT group (n = 10), a HIFT group (n = 11), or a control group (n = 11). The training interventions lasted 12 weeks with two supervised sessions per week, in addition to regular volleyball practice. The HIIT program consisted of progressive resistance-based high intensity intervals performed at 85-95% HRmax, while the HIFT program comprised multimodal circuit-style functional exercises performed at comparable intensities (~ 85-95% HRmax). Performance assessments were conducted pre- and post-intervention and included the countermovement jump (CMJ), standing long jump (SLJ), medicine ball throw (MBT), pro-agility test, 20 m sprint, repeated sprint fatigue index (RSI), volleyball skill test, Yo-Yo IR1 distance, VO₂max, blood lactate concentration, and maximal heart rate (MaxHR). Data were analyzed using a 3 × 2 mixed-model ANOVA with Tukey post hoc tests, and effect sizes were reported as Cohen’s d and partial eta squared (ηp²).

RESULTS: Significant Group × Time interactions were observed for CMJ (F(2,29) = 9.14, p < 0.001, ηp²=0.39), SLJ (F(2,29) = 12.08, p < 0.001, ηp²=0.45), VO₂max (F(2,29) = 11.53, p < 0.001, ηp²=0.44), MaxHR (F(2,29) = 3.56, p = 0.041, ηp²=0.20), and volleyball skill test (F(2,29) = 7.44, p = 0.002, ηp²=0.34). HIFT produced the greatest improvements in explosive power (CMJ Δ=+5.15 cm; SLJ Δ=+12.82 cm), RSI (Δ=-1.56), and volleyball skill performance (Δ=+13.18 points), with large effect sizes (d = 1.3-3.2). HIIT showed relatively greater improvements in aerobic capacity (VO₂max Δ=+0.90 ml·kg⁻¹·min⁻¹) and endurance (d = 0.7-2.0). No significant between-group differences were observed for lactate.

CONCLUSIONS: Both resistance-based HIIT and HIFT proved effective in improving several physical and volleyball-specific performance components in adolescent female players. HIIT produced slightly greater gains in aerobic capacity, while HIFT showed larger numerical improvements in explosive strength, agility, and technical skill performance; however, these between-intervention differences were not statistically significant. Overall, the findings suggest that each modality offers complementary benefits, and integrating both HIIT and HIFT may provide a balanced conditioning approach for the holistic development of youth volleyball athletes.

TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT07181031. Registered on September 04, 2025.

PMID:41437127 | DOI:10.1186/s13102-025-01476-w

Eur J Med Res. 2025 Dec 23. doi: 10.1186/s40001-025-03712-y. Online ahead of print.

ABSTRACT

BACKGROUND: Severe headache or migraine symptoms are a highly prevalent and disabling neurological disorder with distinct clinical and mechanistic features in peri- and postmenopausal women. As research increasingly explores its complex sensory phenotype, auditory comorbidities such as tinnitus have drawn growing attention. Among them, the temporal constancy of tinnitus may be linked to severe headache or migraine symptom occurrence, yet remains understudied in this population.

METHODS: A total of 2,485 peri- and postmenopausal women from a nationally representative U.S. sample were included in this observational analysis. The target variable was severe headache or migraine symptoms, defined using standardized symptom and medication information. The main explanatory variable was tinnitus constancy, derived from standardized questionnaire items. Weighted multivariable logistic regression models were used to estimate the association between tinnitus constancy and severe headache or migraine symptoms, adjusting for demographic, socioeconomic, and clinical factors. Variable importance was further assessed using five complementary approaches: LASSO regression, logistic regression, random forest classification, the Boruta algorithm, and SHAP-based LightGBM modeling.

RESULTS: A significant and graded association was observed between tinnitus constancy and severe headache or migraine symptoms. Compared to women without tinnitus, those with occasional (OR = 2.29, 95% CI 1.44-3.63), intermittent (OR = 2.62, 95% CI 1.57-4.35), and constant tinnitus (OR = 1.93, 95% CI 1.26-2.95) had higher odds of reporting severe headache or migraine symptoms. Intermittent tinnitus displayed the strongest association. Age was negatively associated with symptom reporting and consistently ranked as the most important predictor across all machine learning algorithms. SHAP dependence plots confirmed elevated symptom probability among younger individuals and those with more variable tinnitus patterns.

CONCLUSIONS: Tinnitus constancy, particularly in its intermittent form, is independently associated with higher odds of severe headache or migraine symptoms in peri- and postmenopausal women. Age was also a dominant protective factor. These findings highlight the importance of considering the temporal patterns of tinnitus symptoms and age-related vulnerability when evaluating severe headache or migraine symptoms in peri- and postmenopausal women.

PMID:41437109 | DOI:10.1186/s40001-025-03712-y

Arthritis Res Ther. 2025 Dec 23. doi: 10.1186/s13075-025-03709-2. Online ahead of print.

ABSTRACT

This study aimed to identify subpopulations of patients with hip osteoarthritis who exhibit distinct adaptations in gait biomechanics, and to evaluate subpopulation-specific effects of total hip replacement on gait biomechanics. Three datasets were analyzed: (1) a cohort of 109 unilateral hip osteoarthritis patients before total hip replacement, (2) a subset of the first dataset of 63 patients re-evaluated after total hip replacement and (3) a control group of 56 healthy individuals. For all participants, three-dimensional joint angle and moment waveforms of the pelvis, ipsilateral hip and knee, as well as sagittal-plane ankle motion and the foot progression angle, were obtained. The analytical framework integrated k-means clustering, support vector machine classifiers, Shapley Additive exPlanations, and statistical waveform analyses. Clustering of the pre-operative dataset revealed three distinct subpopulations characterized by unique patterns in gait kinematics and joint moments. These subpopulations also differed in age, Kellgren-Lawrence score, and walking speed. Prior to total hip replacement, between 51.4% and 85.2% of hip osteoarthritis patients were classified as pathologic; following surgery, this proportion decreased to 27.8% – 51.8%. Hip flexion and rotation angles and moments were identified as the most important features for patient classification. The magnitude of gait improvement after total hip replacement varied across subpopulations, indicating subpopulation-specific responses to surgical intervention. In conclusion, patients with hip osteoarthritis demonstrate distinct subpopulation-specific gait adaptations, both before and after total hip replacement. Preoperative classification of patients into the identified subpopulations using machine learning approaches may facilitate the prediction of postoperative gait recovery and support the development of personalized treatment and rehabilitation strategies.

PMID:41437106 | DOI:10.1186/s13075-025-03709-2

Ital J Pediatr. 2025 Dec 23;51(1):323. doi: 10.1186/s13052-025-02159-5.

ABSTRACT

Point-of-care ultrasound (POCUS) is a bedside diagnostic tool clinicians use to provide immediate insights and guide therapeutic interventions. It has become increasingly significant in pediatric emergency departments (EDs) for diagnosing conditions, managing critical scenarios, and guiding procedures due to its portability, ease of use, and lack of radiation. This study aims to systematically review and analyze the efficacy of POCUS compared to conventional diagnostic methods in pediatric emergency settings. A literature search was conducted across PubMed, SCOPUS, Web of Science, Embase, and Cochrane Library up to February 2025. The inclusion criteria were pediatric patients aged 1 month to 18 years in EDs, with studies comparing POCUS to conventional methods. Primary outcomes included first-attempt procedural success and overall success rates. Secondary outcomes included time to procedure completion, mean number of attempts, hospitalization rates, and discharge rates. Data analysis was conducted in R employing a random-effects model, with dichotomous data analyzed as risk ratio (RR) and 95% confidence interval (CI), and continuous data as unbiased standardized mean difference (SMD). Statistical significance was defined at p < 0.05. Eighteen randomized controlled trials involving 2264 patients met the inclusion criteria. POCUS significantly improved first-attempt success (RR = 1.25; 95% CI: 1.09-1.43). The overall procedural success showed a significant benefit with POCUS (RR = 1.12; 95% CI: 1.03-1.22). However, no significant differences were noted in the time to procedure completion, number of attempts for a successful procedure, and rates of hospitalization and discharge to home. POCUS significantly improves first-attempt and overall procedural success rates in pediatric emergency settings, although it does not significantly reduce procedure times or the number of attempts. These findings underscore the importance of integrating POCUS into pediatric emergency care to enhance diagnostic accuracy and procedural success, though further research is needed to optimize its implementation across different age groups and procedures.

PMID:41437104 | DOI:10.1186/s13052-025-02159-5

Eur J Med Res. 2025 Dec 23. doi: 10.1186/s40001-025-03736-4. Online ahead of print.

ABSTRACT

BACKGROUND: Frailty, characterized by diminished physiological reserve, and high mechanical power are well-established risk factors for mortality in critically ill patients. However, the potential synergistic impact of these two factors on clinical outcomes remains insufficiently explored.

METHODS: Baseline data from critically ill patients were extracted from the MIMIC-IV and eICU-CRD databases. Frailty was evaluated using the Laboratory-based Frailty Index (FI-Lab), and mechanical ventilation intensity was quantified by mechanical power (MP). Generalized linear mixed models (GLMMs) and logistic regression analyses were employed to assess the associations between FI-Lab, MP, their interaction, and hospital mortality.

RESULTS: A total of 17,881 critically ill patients were included-13,740 from MIMIC-IV and 4,141 from eICU. Both MP (MIMIC-IV: OR 1.126; 95% CI 1.093-1.160; eICU: OR 1.165; 95% CI 1.094-1.241) and FI-Lab (MIMIC-IV: OR 1.169; 95% CI 1.158-1.179; eICU: OR 1.240; 95% CI 1.215-1.266) showed significant associations with hospital mortality in both cohorts. The effect estimates for MP were consistent across databases (I² = 0%; Cochran’s Q test, P = 0.34), whereas FI-Lab results demonstrated substantial heterogeneity (I² = 96.3% [89.9%-98.7%]; Cochran’s Q test, P < 0.001). To account for this variability, a GLMM was used to pool estimates across datasets. Each 5 J/min increase in MP was associated with a 7.7% higher risk of hospital mortality (OR 1.077; 95% CI 1.045-1.109), while each 0.05-unit increase in FI-Lab corresponded to an 18% increased risk (OR 1.180; 95% CI 1.171-1.190). Importantly, a statistically significant interaction was observed between MP and FI-Lab (OR 1.011; 95% CI 1.009-1.013), indicating that their combined effect exceeds the sum of individual effects.

CONCLUSIONS: FI-Lab and mechanical power are independently associated with hospital mortality, and their interaction further amplifies the risk. These findings suggest that integrating frailty assessment with mechanical power monitoring may enhance risk stratification in critically ill patients.

PMID:41437081 | DOI:10.1186/s40001-025-03736-4

Trials. 2025 Dec 23;26(1):578. doi: 10.1186/s13063-025-09237-3.

ABSTRACT

BACKGROUND: The first thousand days post-conception are crucial for potential interventions to improve early child growth and development. Adequate nutrition during pregnancy plays a pivotal role in both maternal and child health. Recent studies indicate that the consumption of animal-source foods (ASF) such as eggs during childhood may have a positive effect on child growth and development. However, limited evidence exists for the impact of egg supplementation during pregnancy on maternal and child nutrition. The Deux Oeufs study aims to test the effect of a maternal nutritional intervention of two eggs per day during pregnancy on birth outcomes and infant growth.

METHODS: Deux Oeufs is a randomized controlled trial (RCT) and will aim to enroll and randomize 956 pregnant women from Nyagatare District in Rwanda into one of two study arms: a treatment group (T1) or a control group (T2). Women in the treatment arm will consume a supplement of two eggs per day starting from enrollment during the first trimester of pregnancy until childbirth. The study staff will directly observe the consumption of eggs daily. Women in the control arm will continue their usual diet. All enrolled participants will receive standard prenatal care, as outlined by the Government of Rwanda (GoR), a mobile phone, health insurance (if not already covered), and modest compensation for participation. All participants who are not already receiving Shisha Kibondo (a fortified flour supplement provided by GoR) as part of their standard care will receive the same amount (6 kg/month) from the study, regardless of treatment arm. The primary outcome is child length-for-age z-score (LAZ) at birth. Secondary outcomes include maternal health indicators (during and after pregnancy) and child growth and early development measures both in utero, during the second and third trimesters, after birth, and at 6 weeks and 6 months of age. Women will be enrolled on a rolling basis starting from May 2024.

DISCUSSION: Deux Oeufs is the first RCT to test the effects of directly observed daily maternal egg consumption during pregnancy on child nutrition outcomes. Findings from the study will provide evidence on the potential for prenatal ASF supplementation to improve child growth and development and consequently inform policy decisions.

TRIAL REGISTRATION: ClinicalTrials.gov NCT06405360. Registered on May 03, 2024.

PMID:41437064 | DOI:10.1186/s13063-025-09237-3

BMC Med. 2025 Dec 24. doi: 10.1186/s12916-025-04594-x. Online ahead of print.

ABSTRACT

BACKGROUND: Amyotrophic lateral sclerosis (ALS) shows a male predominance, yet the underlying mechanism remains unclear. Although the loss of Y chromosome (LOY) in peripheral blood – a male-specific genetic alteration – has been implicated in certain neurodegenerative disorders (NDDs), its association with ALS in men remains unexplored and has not been explored.

METHODS: We focused on men in the UK Biobank to investigate whether LOY influences the risk and prognosis of ALS. Initially, the LOY level for each male participant was determined using sequencing data. Subsequently, Cox proportional hazards (Cox PH) model analysis was used to assess LOY-associated risk of ALS; thirdly, piecewise linear regression, Kaplan-Meier, and Cox PH analysis assessed LOY’s associations with ALS age at onset (AAO) and survival. Fourthly, multiple analytical methods were implemented to explore the relationship between LOY and ALS indicators, including plasma GFAP (glial fibrillary acidic protein) and NfL (neurofilament light chain). Finally, sensitivity analysis was carried out.

RESULTS: Our final cohort consisted of 158,953 male participants, with a mean follow-up of 11.7 years. Among them, 297 individuals developed ALS. After adjusted multiple confounding factors, including C9orf72 hexanucleotide repeat expansion (HRE), male participants with LOY exhibited an elevated risk of developing ALS (HR [95% CI]: 1.619 [1.059-2.475], p = 0.026). LOY carrier may be more likely to be associated with a later AAO and shorter survival; however, this association did not reach statistical significance in multivariate models. Additionally, our findings revealed that LOY was significantly associated with elevated plasma NfL levels (p = 0.004). Moreover, the median Log2 R ratios of Y chromosome (mLRRY value) exhibited a modest inverse correlation with plasma GFAP levels (Pearson’s r = – 0.059). Nevertheless, LOY did not exert an influence on the longitudinal trends of NfL and GFAP and was not clearly associated with C9orf72 HRE status.

CONCLUSIONS: Our results indicate that LOY makes a potential contribution to the risk of ALS and the elevation of plasma NfL levels. While LOY’s impact on ALS AAO and survival requires further validation, these findings identify it as a promising sex‑specific therapeutic target and support its potential for stratifying male ALS patients toward personalized treatments.

PMID:41437053 | DOI:10.1186/s12916-025-04594-x

BMC Med Educ. 2025 Dec 23. doi: 10.1186/s12909-025-08476-x. Online ahead of print.

ABSTRACT

BACKGROUND: Studies have shown that physician-patient communication is crucial in healthcare. This study investigated the level of physician-patient communication among general practitioners in a Chongqing district. Targeted training was implemented and the intervention effect of the training was analyzed.

METHODS: One hundred twenty-eight general practitioners were selected from 10 primary hospitals that had established relationships with our hospital using convenience sampling. A targeted training plan for physician-patient communication (PPC) was created based on the ‘set the stage,’ ‘elicit information,’ ‘give information,’ ‘understand the patient’s perspective,’ and ‘end the encounter-based communication’ (SEGUE) framework and was provided to the general practitioners for 3 months from July-September 2021. The targeted training included lectures, case studies, seminars, and interactive training via on-site teaching and online teaching modes. The PPC evaluation scale based on the SEGUE framework was used on-site to observe, score, and evaluate PPC skills for the 128 general practitioners before and after instituting the training plan.

RESULTS: The total SEGUE score was significantly increased by 1.0 point after training compared to that before training (95% CI: 0.90-1.10; P < 0.001). Among the five SEGUE dimensions, the increase in the ‘set the stage’ (95% CI: 0.71-0.87; P < 0.001), ‘elicit information’ (0.14; 95% CI: 0.08-0.21; P < 0.001), and ‘give information’ (95% CI: 0.03-0.12; P < 0.001) were statistically significant (P < 0.05) after training. The senior physician subgroup had the most pronounced increase in total scores (1.05; 95% CI: 0.89-1.21; P < 0.001), followed by intermediate physicians (1.04; 95% CI: 0.87-1.2; P < 0.001), and junior physicians (0.92; 95% CI: 0.73-1.12; P < 0.001). The changes in the total scores among the three subgroups were statistically significant (P < 0.001).

CONCLUSION: After a 3-month training program, a higher SEGUE value was to be observed on the level of clinical communication skill among general practitioners from community healthcare centers. It can be assumed that this is due to an effect of the program.

PMID:41437041 | DOI:10.1186/s12909-025-08476-x

BMC Public Health. 2025 Dec 23. doi: 10.1186/s12889-025-26022-8. Online ahead of print.

ABSTRACT

BACKGROUND: In low-resource environments like Somaliland, where insufficient infrastructure leads to high rates of hunger and waterborne illnesses, access to water, sanitation, and hygiene (WASH) is crucial for health. WASH practices in Ibrahim Kodbuur District, Hargeisa, were evaluated in this study in order to find gaps, guide solutions that support Sustainable Development Goal 6, and their links to health outcomes, including child malnutrition.

METHODS: Ninety-seven households chosen through multi-stage cluster sampling participated in a cross-sectional community-based survey that was carried out between June and August 2025. Data on sociodemographic, WASH access, and health outcomes were collected using WHO-adapted questionnaires and visual assessments. Nutritional status was evaluated via mid-upper arm circumference (MUAC) for rapid screening of acute malnutrition in under-fives and BMI z-scores, as per WHO standards, to capture WASH-related vulnerabilities. Descriptive statistics, principal component analysis (PCA), and multiple linear regression (MLR) analysed associations with waterborne diseases and malnutrition.

RESULTS: Among 38.10% of families reported round-trip water collection times exceeding 15 min (indicating moderate to high access burden), 22.70% stored it exposed, and only 13.40% of households had piped water access, with 61.90% depending on communal taps and 24.70% on unprotected wells. Although 60.80% of people used boiling, sanitation was inadequate, with 77.30% disposing of liquid waste in open pits, 14.40% using septic tanks, and 15.50% using dry latrines. Handwashing facilities were available in 32%. Waterborne illnesses affected 39.20% in the past two weeks, primarily diarrhoea. Among under-fives, 53.60% had moderate wasting (MUAC yellow), 12.50% severe (red), 35.70% wasting, and 17.90% severe malnutrition (BMI z-scores). PCA revealed a dominant socioeconomic-WASH deprivation factor (eigenvalue > 1). For malnutrition, MLR found that education (p = 0.002) and water sources (p = 0.003) were predictors, while income (p < 0.001), handwashing (p < 0.001), and distance to source (p = 0.006) were predictors of illnesses. Hence, WASH practices were substantially linked to health outcomes (malnutrition and waterborne illnesses), regardless of sociodemographic but in a multifactorial setting.

CONCLUSION: Due to socioeconomic obstacles, Ibrahim Kodbuur’s subpar WASH feeds the cycles of illness and malnutrition. Evidence from analogous low-resource settings indicates that targeted interventions-such as Biosand filters (reducing diarrheal risks by 25-58%), subsidized infrastructure, and hygiene education-could substantially mitigate these cycles, fostering equitable health gains in comparable peri-urban Somaliland environments, while more extensive multi-district research is required for wider generalizability.

PMID:41437033 | DOI:10.1186/s12889-025-26022-8