Category: Statistics

Clin Exp Ophthalmol. 2026 Mar 1. doi: 10.1111/ceo.70067. Online ahead of print.

ABSTRACT

BACKGROUND: Vitreoretinal lymphoma is a rare cancer, widely recognised to present diagnostic challenges. We aimed to report information that would support the clinician in considering this diagnosis.

METHODS: We interrogated the International Vitreoretinal B-Cell Lymphoma Registry for clinical data from patients newly diagnosed with vitreoretinal lymphoma from January 1, 2020. Demographics, tumour features, optical coherence tomography (OCT) signs, and visual acuities were analysed with descriptive and comparative statistics.

RESULTS: The study cohort included 57 men and 81 women, averaging 65.8 years of age. Men presented at a younger mean age than women, including 40.4% who presented before 60 years (versus 21.0% of women). Diagnosis was by cell-based and molecular tests on ocular samples in 80.4% and from indirect clinical evidence in 19.6%; if known, lymphoma type was diffuse large B-cell in 99.0%. The tumour was bilateral in 65.0% of patients, and involved vitreous in 90.6% and retina in 60.1%. Extraocular tissues were involved concurrently in 26.8%, within the central nervous system in 23.2% and outside in 5.1%. 96.4% of patients had ocular imaging by OCT: abnormalities were present in 80.5%, including subretinal and sub-retinal pigment epithelial nodules. Snellen visual acuity of 227 eyes ranged widely, with a median of 6/12. Visual acuities were ≥ 6/12 in 54.6% of eyes, < 6/19 in 33.0%, and ≤ 6/60 in 22.9%.

CONCLUSIONS: We have comprehensively described features that characterise the presentation of vitreoretinal lymphoma. Future research using the International Vitreoretinal B-Cell Lymphoma Registry will focus on visual acuity and survival outcomes.

PMID:41764659 | DOI:10.1111/ceo.70067

J Assoc Genet Technol. 2026;52(1):11-16.

ABSTRACT

Acute promyelocytic leukemia (APL) is cytogenetically characterized by the t(15;17)(q22;q21) translocation generating the PML::RARA fusion gene. Accurate laboratory diagnosis is essential for disease confirmation and prognostic prediction. In our cytogenetics laboratory, conventional GTG-banded karyotyping and fluorescence in situ hybridization (FISH) are routinely performed for all APL-suspected cases received from the chemotherapy unit of The Gujarat Cancer and Research Institute, Ahmedabad, after bone marrow/IPT requisitions. To document the cytogenetic abnormalities detected in APL-suspected cases using karyotyping and FISH, and to analyze their association with overall patient survival outcomes. This retrospective study included 32 APL-suspected cases referred to our laboratory. Each case underwent conventional cytogenetic analysis and FISH for the PML::RARA fusion. Clinical outcomes (Normal/Recovered, Discharged/Stable, Expired) were obtained from hospital records solely for correlation. Statistical analysis using SPSS included cross-tabulation and chi-square testing to assess the association between FISH status and patient outcomes. FISH detected PML::RARA fusion in 78.1% of cases (25/32), while 21.9% (7/32) exhibited negative or variant fusion patterns. All successful karyotyping studies demonstrated t(15;17), with occasional additional abnormalities. FISH-positive patients showed significantly better recovery rates (60%) compared to none among FISH-negative/variant cases. The association between FISH status and outcome was statistically significant (χ² = 11.165, p = 0.004). Cytogenetic evaluation using karyotyping and FISH provides essential diagnostic and prognostic insight in APL-suspected cases. FISH positivity strongly correlates with favorable outcomes, underscoring its value in routine diagnostic workflows.

PMID:41764640

Curr Pharm Des. 2026 Feb 26. doi: 10.2174/0113816128406867251204172244. Online ahead of print.

ABSTRACT

Breast cancer (BC) continues to be a significant challenge in oncology, primarily due to the emergence of drug resistance, which severely limits treatment efficacy and adversely affects patient outcomes. This review aims to elucidate the mechanisms underlying drug resistance in BC, focusing on the roles of the estrogen receptor (ER) and human epidermal growth factor receptor 2 (HER2) signaling pathways. It identifies advanced therapeutic strategies that effectively target and overcome resistance by analyzing these pathways. This review integrates a comprehensive selection of clinical data and cell lines with known resistance profiles, encompassing both clinical and laboratory settings. It employs cutting-edge techniques such as highthroughput sequencing, proteomics, and advanced imaging. Key measurements include receptor expression levels, pathway activation states, and drug response data, analyzed using bioinformatics tools for genetic and proteomic insights and statistical models to determine the clinical significance of the findings. The review identifies specific mutations and alterations in the ER and HER2 pathways that contribute to drug resistance. Notably, it highlights novel biomarkers and resistance mechanisms, including the upregulation of alternative signaling cascades and mutations in downstream effectors. It also emphasizes promising targeted therapeutic strategies, such as combination therapies and next-generation inhibitors, which have demonstrated encouraging results in preclinical models. In conclusion, this review provides critical insights into the intricate mechanisms of drug resistance in BC, underscoring the pivotal roles of the ER and HER2 signaling pathways. It identifies unique resistance mechanisms and potential therapeutic targets, paving the way for the development of advanced strategies to improve treatment outcomes.

PMID:41764625 | DOI:10.2174/0113816128406867251204172244

Eur J Med Res. 2026 Feb 28. doi: 10.1186/s40001-026-04069-6. Online ahead of print.

ABSTRACT

BACKGROUND: To explore the relationship between serum intercellular adhesion molecule-1 (ICAM-1), matrix metalloproteinase-9 (MMP-9), galectin-3 (Gal-3) and ischemic stroke, cerebral infarct volume, and neurological symptoms, and to evaluate their combined predictive value for poor prognosis.

METHODS: This observational case-control study enrolled 126 patients with cerebral infarction who were divided into small volume group, medium volume group, and large volume group based on infarct volume. Patients were also categorized into mild, moderate, and severe groups according to neurological deficit severity. In addition, 46 healthy subjects were recruited as the control group. Serum levels of ICAM-1, MMP-9, and Gal-3 were measured using enzyme-linked immunosorbent assay. Statistical analysis was performed using one-way ANOVA with post-hoc comparison testing, and ROC curve analysis was conducted to determine sensitivity and specificity.

RESULTS: Compared with the control group, serum ICAM-1, MMP-9, and Gal-3 levels increased significantly with increasing cerebral infarction volume in patients with cerebral infarction. Compared with the control group, serum ICAM-1, MMP-9, and Gal-3 levels increased significantly with increased neurological deficit in patients with cerebral infarction. Serum ICAM-1, MMP-9, and Gal-3 were significantly positively correlated with the volume of cerebral infarction and degree of neurological deficit for ischemic stroke. The AUC values for serum ICAM-1, MMP-9, and Gal-3 independently and in combination when predicting poor prognosis of patients with ischemic stroke were 0.805, 0.809, 0.815, and 0.917, respectively, with sensitivities of 80.23%, 81.50%, 78.26%, and 90.33%, respectively, and specificities of 75.26%, 70.10%, 76.20%, and 78.47%, respectively. The relevant cutoff values for these biomarkers were displayed to enable clinical application. The clinical value of these three indicators in combined detection showed a higher predictive performance than individual marker detection when predicting the poor prognosis of ischemic stroke.

CONCLUSIONS: Serum ICAM-1, MMP-9, and Gal-3, which are all closely associated with cerebral infarction volumes and neurological deficit, appear to be very promising markers in patients with ischemic stroke. By documenting and exploring the dynamic changes of these three biomarkers in patients with stroke, we could not only enhance our understanding of the pathophysiological mechanism of ischemic stroke but also provide another scientific basis for early diagnosis, disease monitoring, and prognostic evaluations.

PMID:41764590 | DOI:10.1186/s40001-026-04069-6

Eur J Med Res. 2026 Feb 28. doi: 10.1186/s40001-026-03976-y. Online ahead of print.

ABSTRACT

OBJECTIVE: This meta-analysis was conducted to systematically evaluate the efficacy and safety of combination therapy with alpha-adrenergic blockers (α-ABs) and 5α-reductase inhibitors (5α-RIs) for benign prostatic hyperplasia (BPH), providing evidence-based support for clinical decision-making.

METHODS: A comprehensive computerized search was performed in PubMed, MEDLINE, Web of Science, Cochrane Library, and EMBASE to identify relevant controlled trials published from database inception to September 2025. Two researchers independently screened the literature, extracted data, and assessed study quality using the Risk of Bias 2.0 (ROB 2.0) tool. Outcome data were extracted, and statistical analysis was performed. The weighted mean difference (WMD) or standardized mean difference (SMD) was calculated for continuous variables, while relative risk (RR) with 95% confidence intervals (CI) was computed for dichotomous variables. Heterogeneity was assessed using the I² statistic, and publication bias was evaluated using funnel plots and Egger’s test.

RESULTS: A total of 9 randomized controlled trials involving 13052 BPH patients were included. Meta-analysis demonstrated that, compared with α-AB monotherapy, combination therapy showed significant advantages in reducing the International Prostate Symptom Score (I-PSS) (MD = -0.20, 95% CI -0.26, -0.14), decreasing prostate volume (PV) (MD = -13.69, 95% CI -18.06, -9.32), increasing the maximum urinary flow rate (Qmax) (MD = 0.21, 95% CI 0.13, 0.29), and lowering prostate-specific antigen (PSA) levels (MD = -1.38, 95% CI -1.81, -0.95). In terms of safety, combination therapy significantly reduced the postoperative surgical rate compared with monotherapy (logRR = -1.11,95% CI -1.42, -0.80), and the risk of acute urinary retention (AUR) was lower in the combination therapy group (logRR = -1.08, 95% CI -1.48, -0.68). There was no significant difference in the risk of cardiovascular system-related adverse events between the two groups (logRR = -0.12,95% CI -0.26 to 0.03, P = 0.12). Publication bias assessment showed significant bias only for PV (Egger’s test Z = -2.89, P = 0.004) and PSA (Egger’s test Z = -3.33, P = 0.001). Moderate to high heterogeneity was observed for some outcomes, with sub-group analysis suggesting that follow-up duration may be a major source of heterogeneity for PV. Sensitivity analysis confirmed the stability of the pooled effect estimates.

CONCLUSION: Combination therapy with α-ABs and 5α-RIs demonstrates superior efficacy compared with monotherapy in improving urinary symptoms, reducing prostate volume, increasing urinary flow rate, lowering PSA levels, and decreasing the risks of AUR and postoperative surgery, with a favorable safety profile. For BPH patients with severe symptoms and larger prostate volumes, combination therapy is recommended to achieve optimal therapeutic outcomes.

PMID:41764570 | DOI:10.1186/s40001-026-03976-y

J Health Popul Nutr. 2026 Mar 1. doi: 10.1186/s41043-026-01277-y. Online ahead of print.

ABSTRACT

BACKGROUND: Genetic disorders like sickle cell disease (SCD), Thalassemia, and Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency significantly impact social, health, financial, and healthcare systems, affecting 2%-5% of live births, 30% of pediatric hospitalisations, and 50% of juvenile deaths. Premarital carrier screening (PMCS) is a critical preventive measure, yet it remains unexplored in Ghana’s Ahafo Region. This study examined young adults’ knowledge and factors influencing willingness or unwillingness to undergo PMCS for genetic blood disorders.

METHODS: A cross-sectional study was conducted among 460 young adults (18-35 years) in health facilities in the Ahafo Region, Ghana, from January to March 2024. Data was collected using a validated and translated questionnaire to capture socio-demographic characteristics, knowledge of genetic disorders, and factors influencing willingness to undergo PMCS. Data analysis was performed using Stata v14, with statistical significance set at p < 0.05. Chi-square tests were used to assess associations between socio-demographic factors and willingness to undergo PMCS. Logistic regression analysis was conducted to identify predictors of willingness, presenting results as odds ratios (OR) with corresponding p-values.

RESULTS: Among the 460 respondents, most (n = 294; 63.9%) knew their SCD status, but fewer were aware of their G6PD (n = 418; 90.9%) and Thalassemia (n = 441; 95.9%) statuses. A significant number had not tested for SCD (n = 303; 65.9%), G6PD (n = 421; 91.5%), or Thalassemia (n = 446; 97.0%). Among the 460 respondents, 88.5% expressed willingness to undergo PMCS. A chi-square test revealed that sex (χ² = 11.481, p = 0.0032)., education level (χ² = 8.428, p = 0.0379), and parental consanguinity (χ² = 14.336, p = 0.0136) were significantly associated with willingness to undergo PMCS. Logistic regression analysis revealed higher willingness among females [OR = 4.3, p = 0.002], cohabiting individuals [OR = 0.3, p = 0.021], married individuals [OR = 0.1, p = 0.001], self-employed [OR = 0.2, p = 0.047], unemployed [OR = 0.2, p = 0.037], and those informed through school subjects [OR = 0.2, p = 0.036].

CONCLUSION: Despite low awareness of genetic disorders, willingness to undergo PMCS is high among young adults in the Ahafo Region, highlighting the need for integrated, culturally tailored public health strategies, particularly through school-based education to improve uptake and reduce the burden of hereditary conditions.

PMID:41764568 | DOI:10.1186/s41043-026-01277-y

Eur J Med Res. 2026 Feb 28. doi: 10.1186/s40001-026-04144-y. Online ahead of print.

ABSTRACT

BACKGROUND: Type 2 diabetes mellitus (T2DM) is associated with increased fracture risk, but changes in bone mineral density (BMD) are site-specific and not always concordant with this risk. Osteocalcin (OCN) reflects bone turnover, yet its relationship with BMD in T2DM is heterogeneous. We examined whether diabetes duration modifies the association between OCN and BMD, with emphasis on the lumbar spine in community-dwelling older adults.

METHODS: We performed a community-based cross-sectional analysis (2017-2018) of 170 adults with T2DM and 170 non-diabetic controls. Diabetes status and duration were ascertained from community health service center medical records and corroborated by participant/family report. Non-diabetic controls were used for descriptive between-group comparisons and control-only models without diabetes-duration terms; duration-interaction analyses were restricted to the T2DM group. For the duration-interaction analyses, 144 participants with T2DM had available duration data (mean age 65.0 ± 7.6 years; 31.9% male). For descriptive presentation, diabetes duration was grouped as ≤ 5, 6-10, and > 10 years. Lumbar spine osteoporosis was defined as lumbar spine (L1-L4) T-score ≤ – 2.5, using World Health Organization (WHO) criteria.

RESULTS: In participants with T2DM (n = 170), the mean lumbar spine T-score was lower than in non-diabetic controls (mean difference – 0.41; P = 0.015), whereas hip T-score was similar (P = 0.180). Within T2DM participants with available duration (n = 144), multivariable linear models showed a significant interaction between z-standardized ln(OCN) and diabetes duration on lumbar spine T-score (β_interaction = 0.049, 95% confidence interval (CI) 0.012-0.086; P = 0.009), indicating attenuation of the inverse OCN-BMD association with longer duration. Simple slopes were – 0.70 at 2 years, – 0.35 at 9 years, and 0.18 at 20 years. On the probability scale, adjusted marginal probabilities of lumbar osteoporosis across osteocalcin quartiles and duration strata are reported descriptively; the OCN × duration interaction term was not statistically significant in logistic models.

CONCLUSIONS: Older community-dwelling adults with T2DM showed lower lumbar spine T-scores compared with non-diabetic controls, while hip T-scores were similar. Within T2DM, we observed an OCN × duration interaction for lumbar spine T-score, with a stronger inverse association at shorter duration and attenuation at longer duration. These cross-sectional findings warrant confirmation in longitudinal studies with fracture outcomes.

PMID:41764562 | DOI:10.1186/s40001-026-04144-y

Harm Reduct J. 2026 Feb 28. doi: 10.1186/s12954-025-01370-1. Online ahead of print.

ABSTRACT

BACKGROUND AND AIMS: History of multiple substance use disorders (SUDs) or polysubstance use is highly prevalent, associated with worse treatment outcomes and higher mortality rates compared to single substance use. Although a few longitudinal studies have measured recovery progress over time, no metric explicitly quantifying recovery from polysubstance use is available. Here, we introduce the concept of proportion of remission (PrR) that provides a more granular and nuanced measure of recovery in individuals with polysubstance use and investigate its association with various Quality of Life (QoL) domains. We also report on individual SUD’s contribution to QoL.

DESIGN: Cross-sectional study design.

SETTING: Remote study.

PARTICIPANTS: 2,406 participants with polysubstance use (polySUD; i.e., a history of two or more substance use disorders).

MEASUREMENTS: Participants completed DSM-5 questionnaires regarding their lifetime and past 12-month substance use, Quality of Life measures, and demographics. Remission status was determined for each SUD based on meeting the DSM-5 criteria (excluding craving) in the past 12 months. Proportion of remission was quantified as the number of SUDs in 12-month remission divided by the total number of lifetime SUDs.

RESULTS: PrR was significantly positively associated with environmental (B = 12.13, 95% CI: [9.68, 14.59], f = 0.2), physical (B = 10.75, 95% CI: [8.23, 13.26], f = 0.17), psychological (B = 7.73, 95% CI: [5.93, 9.52], f = 0.17), and social (B = 6.69, 95% CI: [3.45, 9.93], f = 0.08) QoL, after adjusting for covariates. Across SUDs, individuals not in remission exhibited significantly lower QoL compared to those in remission, with stimulants having the largest effect sizes (f = 0.39-0.42).

CONCLUSIONS: We propose a novel construct of polySUD recovery: proportion of remission. Our results indicate the potential of PrR to capture gradual improvements in quality of life and reflect recovery progress.

PMID:41764560 | DOI:10.1186/s12954-025-01370-1

BMC Vet Res. 2026 Feb 28. doi: 10.1186/s12917-026-05383-1. Online ahead of print.

NO ABSTRACT

PMID:41764493 | DOI:10.1186/s12917-026-05383-1

Clin Epigenetics. 2026 Feb 28. doi: 10.1186/s13148-025-02042-4. Online ahead of print.

ABSTRACT

BACKGROUND: Breastfeeding is associated with short- and long-term beneficial effects on child health, including greater cognitive development, and enhanced immune programming. However, the underlying biological mechanisms are only partially understood, with epigenetics emerging as a potential contributor. In this study, we aimed to investigate whether breastfeeding practices are associated with differential DNA methylation (DNAm) in childhood blood.

RESULTS: We conducted meta-analyses of epigenome-wide association studies (meta-EWASs) in 3421 children from eleven international population-based birth cohorts from the Pregnancy And Childhood Epigenetics (PACE) Consortium. Breastfeeding was assessed as “ever” being breastfed vs. “never”, and duration of any and exclusive breastfeeding. DNAm was measured in childhood blood (ages 5-12 years) using the Illumina 450 K or EPIC arrays, with cord blood at birth used as negative outcome control. At False Discovery Rate (FDR) < 5%, positive associations at six cytosine-phosphate-guanine (CpG) sites were identified in childhood blood: four with duration of exclusive breastfeeding, and three with duration of exclusive breastfeeding of more than three months compared to never. The annotated genes (ALAD, FNBP4, and CHFR) are related to developmental and immune processes. None of these CpG sites were FDR-significant in cord blood prior to breastfeeding.

CONCLUSIONS: Breastfeeding was associated with differential DNAm in childhood blood at a limited number of CpG sites. Future studies in diverse populations are needed to examine the robustness of these associations, the sources of heterogeneity, and the generalizability of the findings.

PMID:41764488 | DOI:10.1186/s13148-025-02042-4