Tag: statistics

Hear Res. 2026 May 8;477:109654. doi: 10.1016/j.heares.2026.109654. Online ahead of print.

ABSTRACT

BACKGROUND: While Auditory Brainstem Response (ABR) provides a non-invasive window into auditory brainstem function, prior studies of ASD have primarily focused on localized waveform features (e.g., waves I, III, and V), potentially overlooking subtle but informative patterns in the full-band signal. This study introduces a deep learning framework to comprehensively characterize time-frequency signatures of auditory brainstem activity in ASD, with the goal of identifying neurophysiologically meaningful ABR features associated with ASD.

METHODS: We analyzed a clinical dataset of 1209 ABR recordings (ASD: 961; Typically Developing Controls: 248). A dual-branch Time-Frequency Fusion and Transformer-Based Network (TF-TBN) was developed. The temporal branch utilizes a Transformer-enhanced 1D-CNN to analyze raw ABR waveforms, while the frequency branch employs a Vision Transformer to analyze spectrograms generated via Continuous Wavelet Transform. A fusion module integrates these features for final classification. Model interpretability was analyzed to identify critical ABR features.

RESULTS: The TF-TBN model achieved a classification accuracy of 96.62%, significantly outperforming conventional deep learning baselines. Interpretability analysis revealed that the model’s decision was heavily influenced by prolonged absolute latencies of waves III and V, and interpeak latencies of I-III and I-V, which were confirmed as statistically significant in the ASD cohort. This suggests that the model successfully learned biologically plausible biomarkers of auditory pathway dysfunction.

CONCLUSIONS: This study provides the first comprehensive characterization of full-band ABR abnormalities in ASD using a deep learning framework. The TF-TBN model identifies prolonged wave III- and wave V-related timing features as prominent contributors to ASD-TD discrimination, with wave III-related delay emerging as an important component of the observed ABR abnormality. By linking AI-driven feature discovery to interpretable neurophysiological biomarkers, our work advances the analytical framework for ABR and contributes to understanding the neural basis of auditory processing deficits in ASD.

PMID:42114179 | DOI:10.1016/j.heares.2026.109654

J Pediatr Urol. 2026 Apr 27;22(4):105979. doi: 10.1016/j.jpurol.2026.105979. Online ahead of print.

ABSTRACT

INTRODUCTION: Hypospadias is a common congenital malformation with a complex etiology involving genetic susceptibility and environmental factors. MicroRNAs (miRNAs), as epigenetic modulators, are hypothesized to bridge these factors by regulating genes essential for urogenital development. The aim of this study was to investigate the expression profiles of specific miRNAs associated with AR, ESR1, and FGFR2 genes in both tissue and systemic circulation (blood) of children with hypospadias compared to healthy controls, to evaluate their potential as epigenetic footprints.

METHODS: The study included 20 boys undergoing surgical repair for isolated hypospadias and 20 age-matched healthy boys undergoing routine circumcision. Preoperative venous blood and intraoperative foreskin tissue samples were collected from all participants. The expression levels of miR-203a-3p, miR-210, miR-218-5p, miR-22-3p, miR-302c-3p, miR-355-5p, and miR-488-5p were analyzed using quantitative Real-Time PCR (qRT-PCR).

RESULTS: In tissue samples, no statistically significant differences were observed in miRNA expression between the hypospadias and control groups. However, significant dysregulation was detected in blood samples. miR-203a-3p was significantly upregulated, while miR-210, miR-218-5p, miR-22-3p, miR-302c-3p, miR-355-5p, and miR-488-5p were significantly downregulated in the hypospadias group compared to controls. Furthermore, a significant source-dependent difference (tissue vs. blood) was observed exclusively within the patient group, whereas tissue and blood levels were similar in healthy controls.

DISCUSSION: The discrepancy between tissue and blood results suggests that while local tissue expression may normalize postnatally, the systemic circulation retains a distinct profile of these epigenetic modulators. These findings demonstrate that circulating miRNAs are significantly dysregulated in hypospadias patients, suggesting a potential association with systemic responses to developmental disruptions, rather than establishing a direct etiology.

CLINICAL/TRANSLATIONAL APPLICABILITY: This study demonstrates that specific circulating miRNA profiles are altered in hypospadias, suggesting a potential association with systemic epigenetic modulations rather than localized defects. These preliminary data provide a foundation for future comprehensive studies to explore their roles in developmental anomalies.

PMID:42114169 | DOI:10.1016/j.jpurol.2026.105979

Prosthet Orthot Int. 2026 May 6. doi: 10.1097/PXR.0000000000000518. Online ahead of print.

ABSTRACT

BACKGROUND: A better understanding of the abilities and difficulties of children with unilateral congenital below-elbow deficiency, and the functional abilities they would like to improve by using a bionic prosthesis would inform the development and prescription of bionic prostheses.

OBJECTIVES: This study aimed to describe the functional abilities and desires for bionic prosthetic assistance of children with unilateral congenital below-elbow deficiency.

STUDY DESIGN: Preliminary, retrospective, cross-sectional, observational single-centre study.

METHODS: Eight children with unilateral congenital below-elbow deficiency were included (7 girls and 1 boy), with a median (Q1-Q3) age of 10.6 (10.1-11.4) years. We used the Disabilities of the Arm Shoulder and Hand Questionnaire to assess difficulties with activities of daily living and the Canadian Occupational Performance Measure to determine the child’s needs and desires in terms of a bionic prosthesis. Descriptive statistics were conducted.

RESULTS: The children were able to perform most activities of daily living but had difficulty with bimanual tasks. Most limitations related to schoolwork. The children described 35 significant activities that they desired a bionic prosthesis to facilitate: 15 related to leisure/sports, 5 to productivity and 15 to self-care activities.

CONCLUSIONS: Children with unilateral congenital below-elbow deficiency can perform many activities of daily living and sports and leisure activities without a prosthesis; however, they desire to improve their performance of these activities. Activities that are of particular importance to them include personal care and sports and leisure activities.

PMID:42114153 | DOI:10.1097/PXR.0000000000000518

JMIR Cancer. 2026 May 11;12:e89954. doi: 10.2196/89954.

ABSTRACT

BACKGROUND: About 4 in 10 people in Sweden get cancer during their lifetime, and approximately half of them will be diagnosed during their working life. As cancer survival rates improve, a growing number of individuals face challenges in returning to work following treatment. This increases the demand for effective return-to-work (RTW) strategies. Despite existing rehabilitation frameworks, cancer survivors often encounter barriers to sustainable work reintegration.

OBJECTIVE: This study aimed to investigate stakeholders’ perceptions of facilitators and barriers to RTW among cancer survivors, including factors promoting work-related well-being during the RTW process.

METHODS: During the development phase of a work-oriented rehabilitation intervention, semistructured interviews were conducted, with 25 stakeholders involved in the RTW process: health care professionals (n=12), social insurance officers (n=7), employers (n=5), and an employment service agency officer (n=1). Data were analyzed using qualitative content analysis.

RESULTS: Five overarching themes were identified that influenced RTW: collaboration and clear division of responsibilities, balancing individual adaptations, reducing structural barriers through support, views and expectations of the individual regarding RTW, and the emotional significance of work. Key facilitators included flexible work arrangements, individualized adaptations, a strong desire to work, and the emotional value of work. Barriers comprised lack of collaboration among stakeholders, particularly the absence of a clear division of responsibilities, as well as structural barriers, such as sick leave bureaucracy and financial obstacles. The role of rehabilitation coordinators was highlighted as pivotal in bridging gaps between stakeholders and ensuring continuity in care.

CONCLUSIONS: RTW for cancer survivors is a complex, multifactorial process requiring coordinated efforts across health care, insurance, and employment sectors. Enhancing collaboration, clarifying stakeholder responsibilities, and implementing flexible, individualized support structures are essential to facilitating cancer survivors’ RTW. Additionally, including a designated coordinator in the process is proposed. More support during the early phase of RTW is necessary to reduce the risk of long-term labor market exclusion. To help cancer survivors’ RTW, clear role definitions and shared responsibilities among stakeholders are essential. Flexibility in the RTW process helps individuals reintegrate at their own pace, reduces isolation, and promotes social connection. These are key considerations for future policies and support measures.

PMID:42114136 | DOI:10.2196/89954

Rheumatology (Oxford). 2026 May 11:keag152. doi: 10.1093/rheumatology/keag152. Online ahead of print.

ABSTRACT

OBJECTIVES: To determine the prevalence and predictive correlates of arthritis and joint damage in systemic lupus erythematosus (SLE) patients in the Asia-Pacific Lupus Collaboration (APLC) cohort, and to determine their impact on health-related quality of life (HRQoL).

METHODS: SLE patient data (2013-2020) were collected from the prospective multinational APLC cohort. We defined arthritis according to SLE Disease Assessment Index (SLEDAI-2K) definition, persistent arthritis as arthritis in ≥ 2 consecutive visits, and joint damage according to the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI) definition (deforming or erosive arthritis). HRQoL was measured by Short Form Survey (SF36). Descriptive statistics, univariable and multivariable Cox hazard models, and Kaplan-Meier analyses were performed.

RESULTS: During median 2.5(1.0-5.1) years of follow-up, 803/4106(19.6%) patients had arthritis at least once, and 18/3383(0.53%) accrued joint damage. Patients with arthritis were more likely to be female, Caucasian, current smokers at enrolment, and less like to have tertiary education; they also had higher overall disease activity, and lower physical and mental HRQoL. Kaplan-Meier analysis demonstrated that joint damage was more likely in patients with arthritis. Persistent arthritis and longer follow-up were risk factors for joint damage accrual; being from high-income countries was protective. Patients with joint damage also had worse physical HRQoL.

CONCLUSION: Arthritis in the APLC cohort was infrequent compared with other cohorts and was associated with smoking, higher overall disease activity, and damage accrual across multiple domains. Presence of arthritis significantly impacted physical and mental HRQoL. Joint damage was strongly predicted by persistent arthritis.

PMID:42114134 | DOI:10.1093/rheumatology/keag152

Eur Stroke J. 2026 May 6;11(5):aakag045. doi: 10.1093/esj/aakag045.

ABSTRACT

INTRODUCTION: Policy shifts towards home-based care are reshaping the management of stroke survivors, many of whom require long-term support. Home care, which encompasses social care for personal and household tasks and informal care provided by family and friends, plays a crucial role in post-stroke recovery and community reintegration. This study examined home care use up to 15 years post-stroke and its associated factors, and assessed unmet needs for assistance with activities of daily living (ADLs).

PATIENTS AND METHODS: Data from 7885 stroke survivors in the South London Stroke Register (1995-2022) were analysed at 3 months, 1, 5 and 15 years post-stroke. Descriptive analyses examined home care patterns and unmet needs. A Heckman selection model assessed factors associated with home care use while accounting for missing data.

RESULTS: On average, 75% of stroke survivors used home care across 15 years post-stroke, with 83% of care at 3 months and 87% at 15 years being provided through informal care. Home care use was more likely among those with functional dependency (29%; 95% CI, 22%-35%) and those living with family (24%; 95% CI, 21%-27%). Social care use was higher in people with greater dependency (48%; 95% CI, 42%-56%), those living alone (25%; 95% CI, 21%-29%), those with lower deprivation (10%; 95% CI, 1%-20%) or those with a Black ethnic background (6%; 95% CI, 2%-9%). Informal care use was higher among those living with family (12%; 95% CI, 9%-14%), those with moderate dependency (2%; 95% CI, 0.1%-5%) or females (6%; 95% CI, 3%-9%). Unmet needs in ADLs increased over time (12% at 3 months to 17% at 15 years) and were higher among those with moderate compared with severe functional dependency.

DISCUSSION AND CONCLUSIONS: Within home care, informal care remains the predominant long-term support for stroke survivors, persisting up to 15 years after stroke. Addressing health-related, socio-economic, ethnic and gender disparities in home care and unmet needs is essential for equitable community-based stroke care, and caution is needed when promoting home-based care models regarding the distributional impact of home care. Accurate measurement of home care is key to improving post-stroke care models and quality of life.

PMID:42114133 | DOI:10.1093/esj/aakag045

Eur Stroke J. 2026 May 6;11(5):aakag042. doi: 10.1093/esj/aakag042.

ABSTRACT

INTRODUCTION: Glomerular hyperfiltration has previously been associated with cardiovascular events and mortality but has scarcely been investigated in patients with stroke.

PATIENTS AND METHODS: We used pooled data from an individual patient data meta-analysis of prospective, cohort studies of stroke or TIA populations. For this analysis, we included participants from study sites that collected estimated glomerular filtration rate (eGFR) at stroke presentation. Using Cox proportional hazards regression, we investigated the risk of death, any stroke and vascular death according to glomerular hyperfiltration, defined as having an eGFR greater than the age- and sex-adjusted 95th percentile. We also investigated these outcomes according to eGFR as a continuous variable, modelled using fractional polynomials.

RESULTS: A total of 11,175 patients (mean age 70.7 years, 42% female) were included in the analysis, 554 (4.9%) with hyperfiltration. Compared to the normofiltration group (absence of hyperfiltration and eGFR ≥ 60 mL/min/1.73 m2), the hyperfiltration group had a higher rate of all-cause death, 147 per 1000 person-years (95% CI, 119-180) vs 61 (95% CI, 57-66). Compared to normofiltration, hyperfiltration was independently associated with the risk of death from any cause (adjusted hazard ratio [HR] 1.76; 95% CI, 1.46-2.11; P < .001) and the risk of vascular death (adjusted HR 1.68; 95% CI, 1.29-2.17; P < .001). There were non-linear associations of eGFR with risk of death and vascular death, with increasing risk at both low and high eGFR (Pnon-linearity < .001 for both).

DISCUSSION AND CONCLUSION: Glomerular hyperfiltration was associated with a 76% increased risk of death and a 68% increased risk of vascular death in multivariable models adjusted for age, sex and comorbidities. Glomerular hyperfiltration may be associated with adverse health outcomes, specifically in patients with ischaemic stroke. Further research is needed to confirm these findings.

PMID:42114132 | DOI:10.1093/esj/aakag042

Eur Stroke J. 2026 May 6;11(5):aakag039. doi: 10.1093/esj/aakag039.

ABSTRACT

INTRODUCTION: Sex-related disparities in acute ischaemic stroke (AIS) care have been widely reported. However, evidence from Italy remains limited. We aimed to evaluate sex differences in access to revascularisation treatments (RTs) and key time performance indicators in a large Italian cohort.

PATIENTS AND METHODS: We conducted a single-centre, retrospective, observational study including all adults admitted to the emergency department of a comprehensive stroke centre in Rome between January 2015 and December 2022 for suspected stroke. Clinical and demographic characteristics, comorbidities, presenting symptoms, RTs and stroke care time metrics were collected. Multivariable logistic and linear regression models, as well as restricted cubic spline analyses, were used to assess sex-related differences in RTs and time indicators, adjusting for relevant confounders.

RESULTS: Within the 9167 patients, 44.4% had AIS, and 48.2% were women. Among patients with AIS, women were older (P < .001), had higher NIHSS scores at onset (P < .001), a greater comorbidity burden (P < .001) and higher in-hospital mortality (P = .010). No significant sex differences were observed in intravenous thrombolysis and endovascular treatment administration rates. However, median door-to-needle time was 4 min longer in women than in men (P = .030). After adjustment, female sex was not significantly associated with RT administration or in-hospital mortality, but remained an independent predictor of longer DNT [adjusted β -8.242; 95% CI (-15.453 to -1.031); P = .025].

DISCUSSION AND CONCLUSIONS: Although access to RTs was comparable between sexes, women experienced longer DNT, indicating persistent in-hospital barriers to timely stroke care. These findings highlight the need for targeted interventions to achieve full equity in AIS management.

PMID:42114131 | DOI:10.1093/esj/aakag039

J Anim Sci. 2026 May 11:skag133. doi: 10.1093/jas/skag133. Online ahead of print.

ABSTRACT

Estimating individual dry matter intake (DMI) on pasture remains costly, labor-intensive, and episodic. We developed a deployable sequence model to predict daily, per-animal DMI using walk-on scale weights, metered water intake, animal metadata, and publicly available weather. A 3-layer long short-term memory (LSTM) network (hidden size = 256, dropout = 0.20) ingested 7-day windows of engineered covariates, including rolling statistics, first- and second-order differences, short lags, thermal ranges, and Temperature-Humidity Index (THI), scaled with a RobustScaler; categorical variables were encoded with learned embeddings. The prediction head was a compact multilayer perceptron, and outputs were inverse Box-Cox transformed to kilograms per day. Training used animal-identity-grouped splits, Huber loss, Adam optimization with gradient clipping, learning-rate scheduling, early stopping, and Optuna hyperparameter tuning. A single feature-scaler bundle was evaluated against National Academies of Sciences, Engineering, and Medicine (NASEM) equations and three strictly held-out external validations: regional drylot (Morgantown, WV), non-regional drylot (Hyplains, KS), and grazing (2023 Wardensville, WV). Using identical evaluation masks, the LSTM improved accuracy relative to NASEM (pooled RMSE 1.329 vs. 1.858 kg/d; R2 0.655 vs. 0.326), with the largest gains in grazing (LSTM RMSE 1.180, R2 0.507; NASEM RMSE 3.883, R2 -4.337). Iterative fine-tuning with a frozen encoder showed stable behavior under bias-only head updates across production systems. These results demonstrate that accurate, generalizable DMI prediction can be achieved from pragmatic inputs, enabling scalable evaluation of intake phenotypes and feed-efficiency traits directly in grazing systems.

PMID:42114127 | DOI:10.1093/jas/skag133

Genetics. 2026 May 11:iyag119. doi: 10.1093/genetics/iyag119. Online ahead of print.

ABSTRACT

In genetic association studies, permutation tests serve as a cornerstone to estimate p-values. This is because researchers may design new test statistics without a known closed-form distribution, or the assumption of a well-established test may not hold. However, permutation tests require a vast number of permutations which is proportional to the magnitude of the actual p-values. When it comes to genome-wide association studies where multiple-test corrections are routinely conducted, the actual p-values are extremely small, requiring a daunting number of permutations that may be beyond the available computational resources. Existing models that reduce the required number of permutations all assume a specific format of the test statistic to exploit its specific statistical properties. We propose Kernel-smoothed permutation which is a model-free method universally applicable to any statistic. Our tool forms the null distribution of test statistics using a kurtosis-driven transformation, followed by a kernel-based density estimation (KDE). We compared our Kernel-smoothed permutation to Naïve permutation using statistics from known closed-form null distributions. Based on three frequently used test statistics in association studies, i.e., t-test, sequence kernel association test (SKAT), and chi-squared test, we demonstrated that our model reduced the required number of permutations by a magnitude with similar or higher accuracy. Based on a real-world genome-wide association study (GWAS) analysis, we used Crohn’s disease cohort to further confirm that our model substantially outperforms the Naïve permutation.

PMID:42114112 | DOI:10.1093/genetics/iyag119