Category: Statistics

BMC Pediatr. 2026 Jan 26. doi: 10.1186/s12887-025-06504-9. Online ahead of print.

ABSTRACT

BACKGROUND: Current guidelines recommend lipid screening in children with Type 1 Diabetes Mellitus (T1DM) after the age of 10. This study aimed to evaluate the prevalence and predictors of dyslipidemia in pediatric T1DM and determine whether screening before age 10 is warranted.

METHODS: In this cross-sectional study, 187 pediatric patients with T1DM attending the diabetes clinic of Emam Reza Clinic, Shiraz University of Medical Sciences, Iran, were evaluated. Demographic, anthropometric, and clinical data including age, sex, disease duration, lipid profile (following standard protocol), and HbA1c were collected. Dyslipidemia was defined as LDL > 100 mg/dL, HDL < 40 mg/dL, and TG > 100 mg/dL (< 10 years) or > 130 mg/dL (≥ 10 years) Statistical analyses included chi-square, independent t-test/Mann-Whitney U, and binary logistic regression.

RESULTS: The mean age was 11.05 ± 3.52 years; 40.1% (75) were ≤ 10 years old. Dyslipidemia occurred in 46.0% (95% CI: 38.9%-53.2%), with similar prevalence in ≤ 10 years (42.7%, 95% CI: 31.5%-53.9%) and > 10 years (48.2%, 95% CI: 39.0%-57.5%) (p = 0.46). Hypertriglyceridemia was observed in 22.7% of younger vs. 22.3% of older patients (p = 0.95), while LDL dyslipidemia tended to be higher in > 10 years (28.6% vs. 16.0%, p = 0.05). In multivariable analysis, each one-unit increase in HbA1c was associated with higher odds of dyslipidemia (OR: 1.29, 95% CI: 1.04-1.59), as was BMI (OR: 1.10, 95% CI: 1.01-1.21).

CONCLUSIONS: Dyslipidemia is prevalent even in T1DM patients ≤ 10 years. These findings suggest that lipid screening should be considered before age 10 to ensure earlier detection and intervention.

TRIAL REGISTRATION: Not applicable.

PMID:41582152 | DOI:10.1186/s12887-025-06504-9

Arthritis Res Ther. 2026 Jan 26. doi: 10.1186/s13075-026-03746-5. Online ahead of print.

ABSTRACT

BACKGROUND: Rheumatoid arthritis (RA) and gout are traditionally considered distinct diseases with differing pathogenic mechanisms, making their coexistence controversial. Emerging evidence suggests this overlap may be underestimated. This study aimed to evaluate their epidemiological association, genetic causality, and intersecting molecular features.

METHODS: Epidemiological analyses used National Health and Nutrition Examination Survey (NHANES; 2007 ~ 2018, n = 19,705) data. Propensity score matching and weighted multivariate logistic regression assessed gout prevalence, temporal trends, and risk factors in RA. Restricted cubic spline (RCS) analysis examined nonlinear serum urate (SUA)-gout associations within RA. Mendelian randomization (MR) analyses based on genome-wide association study (GWAS) data evaluated causal effects of overall RA, Seronegative RA (SNRA), and Seropositive RA (SPRA) on gout and SUA, with multiple testing controlled by Bonferroni correction. Transcriptomic analyses from the Gene Expression Omnibus (GEO) used differential expression and weighted gene co-expression network analysis (WGCNA). Results were integrated with disease-related genes from the Comparative Toxicogenomics Database (CTD), Online Mendelian Inheritance in Man (OMIM), and GeneCards databases for enrichment and pathway analyses.

RESULTS: NHANES data indicated higher gout prevalence among RA patients compared to matched controls (10.3% vs. 4.8%, P < 0.001), with an increasing trend over time (P = 0.006). Weighted logistic regression supported RA as an independent risk factor for gout (OR: 2.67; 95% CI: 1.95 to 3.67; P < 0.001). RCS analysis revealed a nonlinear SUA-gout association in RA (P < 0.05). MR supported a causal effect of RA on gout, strongest for SNRA (OR = 1.132; 95% CI: 1.044 to 1.227; P = 0.003) after Bonferroni correction, whereas no effect was found for SPRA on gout or for RA, SNRA, and SPRA on SUA. Bioinformatics analysis identified 207 shared RA-gout genes enriched in interferon signaling, immune activation, and antiviral defense pathways, highlighting five hub genes (RSAD2, DDX60, IFIT1, IFIT3, XAF1) central to a convergent interferon-driven mechanism.

CONCLUSIONS: RA and gout may overlap more than previously recognized, with stronger genetic evidence in SNRA. No causal effect on SUA suggests the link may not primarily involve urate pathways. Transcriptomic overlap in interferon signaling indicates potential molecular intersections, warranting further investigation.

PMID:41582139 | DOI:10.1186/s13075-026-03746-5

Popul Health Metr. 2026 Jan 25. doi: 10.1186/s12963-026-00453-w. Online ahead of print.

ABSTRACT

BACKGROUND: Achieving equitable global health frameworks requires the intentional integration of diverse voices-both professional and lived-from across the high-resourced Global North (GN) and low-resourced South (GS). It is, however, rare that Core Set development using the International Classification of Functioning, Disability and Health (ICF) has equal data representation from both regions. Using the data from the development of Core Sets on deafblindness, we explored a unique opportunity, given the geographic distribution of data sources. We compared ICF category frequencies from the GN and GS across body structure, body function, activities and participation, and environmental factors.

METHODS: We divided the data from an expert survey (n = 105) and from interviews with deafblind individuals (n = 72) by country of origin into GN and GS using the Brandt Line, representing all six regions of the WHO (28 countries). Using the ICF coding system to identify perceived categories of functioning, aggregated frequencies of unique ICF categories were compared across ICF components and chapters using chi-square statistics.

RESULTS: Survey data showed no significant geographic differences across activities and participation or environmental factors; however, qualitative interviews revealed significant deviations. For activities and participation, GN emphasized d9205 (socializing) and d940 (human rights), while GS highlighted d760 (family relationships). For environmental factors, GN focused on e5800 (health services) and e298 (environmental adaptations), whereas GS emphasized e5550 (associations), e310 (family), and e325 (community supports). Within the GN, survey and interview data also differed. Surveys emphasized e310, e315 and e320 (supports), while interviews highlighted e410, e425, e450, and e455 (attitudes). For activities and participation, d660 (assisting others) was more frequent in interviews. The GS showed significant within-region differences for e4 (attitudes), d9 (community, social and civic life) and d2 (general tasks and demands).

CONCLUSIONS: Findings highlight the regional variations in activities and participation among individuals with deafblindness as they reflect differences in environmental factors. Rooted in cultural and resource differences, geographic region itself constitutes a key environmental factor. Expert perspectives may underrepresent differences in lived environmental realities of individuals with deafblindness. Future Core Set development will benefit from including more diverse sources.

PMID:41582121 | DOI:10.1186/s12963-026-00453-w

BMC Cancer. 2026 Jan 26. doi: 10.1186/s12885-026-15608-z. Online ahead of print.

NO ABSTRACT

PMID:41582119 | DOI:10.1186/s12885-026-15608-z

J Neurol. 2026 Jan 25;273(2):95. doi: 10.1007/s00415-026-13622-6.

ABSTRACT

BACKGROUND: The central vein sign (CVS) is a promising imaging marker of multiple sclerosis (MS). We performed a systematic review and meta-analysis to evaluate the diagnostic accuracy of CVS-based rules in the differential diagnosis of MS and to identify the best cutoffs for these rules.

METHODS: PubMed, Embase, and Scopus were systematically searched for available evidence. Data extracted were entered into Bayesian models recommended by the Cochrane network. Summary sensitivity and specificity of CVS-based diagnostic rules across different positivity thresholds were calculated. A meta-regression for the role of gadolinium-based MRI protocols was also performed.

RESULTS: 3434 patients from 28 studies were included. Three CVS-based diagnostic rules were found: the first one considers the percentage of CVS + lesions (relative threshold method), the second one the presence of CVS in a given number of lesions selected in T2 sequences (select-n method), and the third one the presence of a given number of CVS + lesions in gradient-echo sequences (select-n* method). For relative threshold method, the best cutoff was 37.5% (sensitivity 97.3%, 95%CI 90.9-99.6%; specificity 90.4%, 95%CI 83.2-95.9%; Youden index 0.877); for select-n* method, 4 was the best threshold (sensitivity 87.1%, 95%CI 66.9-96.6%; specificity 88.2%, 95%CI 65.1-98.1%; Youden index 0.753). Use of gadolinium-based MRI protocols was irrelevant (for relative threshold method RDOR = 6.62, 95%CI 0.68-71.27; for select-n* method RDOR = 2.52, 95%CI 0.35-15.36).

CONCLUSIONS: Relative threshold and select-n* methods are good predictors of MS diagnosis. This synthesis should support the use of CVS in clinical practice and prompt further research.

PMID:41582108 | DOI:10.1007/s00415-026-13622-6

Neuroradiology. 2026 Jan 26. doi: 10.1007/s00234-026-03904-1. Online ahead of print.

ABSTRACT

BACKGROUND: Current diagnostic approaches of leptomeningeal disease (LMD) rely heavily on cerebrospinal fluid (CSF) cytology, which shows significant limitations and the requirement for invasive procedures. We aim to develop an MRI-based grading scores for LMD diagnosis and prognosis that address current diagnostic limitations and provide standardized, reproducible assessment criteria.

METHODS: We conducted a retrospective analysis of 32 adult cancer patients evaluated for suspected LMD. Two experienced neuroradiologists independently assessed MRI studies using our novel grading system, which incorporates leptomeningeal enhancement/intensity patterns (grades 1-6), Evans index for hydrocephalus assessment, brain metastases characteristics, and spinal involvement. Confirmation of LMD cases was employed using dual confirmation approach combining CSF cytology and follow-up MRI.

RESULTS: Our MRI grading system demonstrated promising inter-observer performance. Inter-rater reliability between two attending level neuroradiologists was excellent (ICC = 0.953, P-value < 0.001) using a cutoff score of 2 or higher, the system demonstrated comparable performance. Risk stratification analysis revealed clear prognostic value, with mortality rates of 8.6% for low-risk patients (Grade 1-2), 50% for medium-risk patients (Grade 3-4), and 80.0% for high-risk patients (Grade 5 +). The Kaplan-Meier survival curves demonstrate a statistically significant difference in overall survival between patients with varying grades (p-value of 0.00011). Notably, survival probability drops steeply in the Grade 5 + group early on, suggesting that higher LMD burden is associated with rapid clinical deterioration. In contrast, low risk patients appear to have a more indolent course.

CONCLUSIONS: Our preliminary findings detail a promising approach in evaluating LMD patients which offers valuable prognostic information for clinical decision making. Furthermore, the high inter-rater reliability across various tumor types further encourages the potential utility of this approach, although further research on a broader population is needed before clinical implementation.

PMID:41582099 | DOI:10.1007/s00234-026-03904-1

Theor Appl Genet. 2026 Jan 25;139(1):48. doi: 10.1007/s00122-026-05150-8.

ABSTRACT

This study identified efficient marker combinations consisting of two significant SNPs associated with salt tolerance in cowpea, providing genomic insights and candidate frameworks for future validation and breeding applications. Salt stress is a major abiotic factor that severely reduces crop productivity, particularly in arid and semi-arid regions. Its effects are further exacerbated by climate change and the continuous buildup of salts in the soil. Although cowpea (Vigna unguiculata L.) is regarded as a promising crop in drought- and heat-prone areas, it remains especially susceptible to salt stress during its early developmental stages. To investigate the genetic foundation of salt tolerance, a genome-wide association study (GWAS) was carried out using 401 genetically diverse cowpea germplasms. This analysis integrated phenotypic assessments under 200 mM NaCl treatment at the early vegetative stage with 34,704 high-quality single-nucleotide polymorphisms (SNPs). Four morpho-physiological traits were chosen to assess responses to salt stress, including leaf scorch score (LSS), leaf chlorophyll content (LCC), and the contents of leaf sodium ions (LSI) and leaf chloride ions (LCI). GWAS identified several significant marker-trait associations, among which six SNPs with the highest statistical significance across the four traits were selected. Candidate genes associated with these SNPs were involved in ion transport, regulation of reactive oxygen species (ROS), and secondary metabolite biosynthesis, which are fundamental mechanisms in salt tolerance. Moreover, the combination of two SNPs, 2_52855 and 2_38343, proved to be the most effective marker for distinguishing salt-tolerant germplasms. Germplasms containing the GC genotype at this combination, meaning the G allele at the SNP 2_52855 and the C allele at the SNP 2_38343, consistently demonstrated enhanced salt tolerance. These findings enhance our understanding of the genetic architecture of salt stress response in cowpea and provide a foundation for identifying molecular markers that can be validated and applied in future breeding efforts.

PMID:41581103 | DOI:10.1007/s00122-026-05150-8

Jpn J Clin Oncol. 2026 Jan 25:hyaf220. doi: 10.1093/jjco/hyaf220. Online ahead of print.

ABSTRACT

BACKGROUND: This study assessed the safety and effectiveness of selpercatinib, a selective rearranged during transfection (RET) kinase inhibitor, in patients with RET fusion-positive non-small cell lung cancer (NSCLC) in real-world clinical practice in Japan.

METHODS: This single-arm, multicenter, prospective observational study included patients with RET fusion-positive NSCLC who received at least one dose of selpercatinib between February 2022 and October 2023. Data were extracted from medical records and entered into an electronic data capture (eDC) system. Safety (adverse events [AEs] and AEs of special interest [AESIs]) and effectiveness (tumor response, overall survival [OS]) were assessed over 12 months.

RESULTS: Among 243 patients (median age: 67 years; 56% females), AEs occurred in 86.0% of patients, with Grade ≥ 3 AEs in 48.1% and serious AEs (SAEs) in 24.7%. The most common AEs (≥10%) included hypertension (23.5%), abnormal hepatic function (21.0%), rash (11.1%), aspartate aminotransferase increase (10.3%), and diarrhea (10.3%). AEs led to treatment modifications, including dose interruption (54.7%), dose reduction (14.8%), and discontinuation (6.2%). AESIs included liver injury (44.0%), hypertension-related events (23.9%), and hypersensitivity (MedDRA preferred term; 9.9%). The overall response rate was 58.8%, comprising complete response in 4.5% and partial response in 54.3% of patients. Median OS was not reached; the 12-month survival rate was 80.9% (95% CI, 74.9-85.6).

CONCLUSIONS: Real-world data showed selpercatinib to be effective in patients with RET fusion-positive NSCLC in Japan, with a favorable safety profile and no new safety concerns.

PMID:41581084 | DOI:10.1093/jjco/hyaf220

Rev Med Virol. 2026 Jan;36(1):e70105. doi: 10.1002/rmv.70105.

ABSTRACT

Parainfluenza virus (PIV) is a common cause of respiratory illness in children and immunocompromised adults, but little is known about its epidemiology or disease burden in the general adult population. This review evaluates published global epidemiological and disease burden for PIV in adults, including high-risk patients (immunocompromised or with chronic illnesses), and identifies existing data gaps. A PRISMA systematic review of publications from 2014 to 2023 in PubMed reporting PIV prevalence and disease burden (including hospitalisations, mortality) in adults (≥ 18 years) and high-risk patients was performed. Sixty-five studies were included; which skewed towards Asia, Europe, and North America, highlighting a data gap in global PIV prevalence. Overall prevalence of PIV (all strains) ranged from 0 to 15.2% [median 2%] in the general adult population (not considered high-risk but tested for infection). PIV3 was the most prevalent strain (0.6-15.2% [2.9]), followed by PIV4 (0.4-6.5% [1.9]), PIV1 (0.5-2.8% [1.1]), and PIV2 (0-2.9% [1.1]). PIV prevalence was generally higher in high-risk adults (up to 41% in certain risk groups) and those aged ≥ 65. Mortality rates ranged from 2 to 40% in those high-risk, while need for respiratory assistance ranged from 0.9% to 64.2% and hospitalisation from 3.7% to 45.3%. None of the studies reported cost-related healthcare resource utilisation. Variability of study designs, data stratification, and patient populations in the selected studies challenged evaluating the true prevalence of PIV and its burden. PIV infection carries an underappreciated burden, with substantial morbidity and mortality risks, especially in high-risk patients. Significant knowledge gaps exist regarding global prevalence and economic burden in the general adult population.

PMID:41581073 | DOI:10.1002/rmv.70105

G3 (Bethesda). 2026 Jan 25:jkag007. doi: 10.1093/g3journal/jkag007. Online ahead of print.

ABSTRACT

Single nucleotide polymorphism (SNP) arrays have become increasingly popular due to their affordability, commercial availability, statistical power, and reproducibility. These arrays are being developed commercially for a wide range of species in various density formats. In this study, we evaluated the ability of commercially available medium-density (72,732 SNPs) and high-density SNP (702,183 SNPs) arrays for white-tailed deer (Odocoileus virginianus) to accurately identify known genetically related individuals within a wild population. We also assessed the impact of SNP filtering thresholds on relatedness analyses and compared the performance of four common relatedness softwares: KING, COLONY, Sequoia, and COANCESTRY, on these known related pairs. Our analysis revealed that the medium-density array exhibited greater tolerance to filtering and lower sensitivity to bioinformatic pipelines, making it a favorable balance between cost, computational time, and statistical power for analyses such as population structure. Additionally, we found that reducing missing data, specifically by using a subset of 600 loci with no missing data, combined with the relatedness estimator Sequoia (which allows the inclusion of life history data), yielded the most computationally efficient and accurate results. These findings offer valuable insights into the optimal SNP array size, appropriate filtering thresholds, and the most effective genetic relatedness methods for wildlife population studies.

PMID:41581072 | DOI:10.1093/g3journal/jkag007