Category: Nevin Manimala

Genet Epidemiol. 2026 Apr;50(3):e70037. doi: 10.1002/gepi.70037.

ABSTRACT

In the last decade, genome-wide association studies (GWAS) have identified tens of thousands of common variants associated with a wide array of complex traits and diseases. Integration of GWAS with molecular data has informed the development of statistical tools for causal gene discovery. In this paper, we give an overview of commonly used causal inference methods and discuss the strengths and limitations of colocalization, Mendelian randomization (MR) and network-based approaches. Colocalization is often used to assess whether the genetic association signals for two traits arise from the same causal variant, thereby strengthening inferred causal associations. MR was developed to tackle issues of confounding and reverse causality, providing a rigorous approach to causal inference and demonstrating improved false discovery rates. Unlike MR, network-based analyses employ a discovery approach and model complex relationships between multiple variables. All causal inference methods are, to varying degrees, susceptible to spurious associations due to genetic confounding, pleiotropy and linkage disequilibrium. Here, we discuss the latest developments in the field of causal gene inference and limitations of these methods. We give an overview of interplay between different approaches as well as practical applications with reference to published examples in context of heart disease.

PMID:41770856 | DOI:10.1002/gepi.70037

PLoS One. 2026 Mar 2;21(3):e0343871. doi: 10.1371/journal.pone.0343871. eCollection 2026.

ABSTRACT

BACKGROUND: Pesticides are essential in agriculture for protecting crops from pests, diseases, and weeds, but improper use can lead to health issues like neurological disorders and carcinogenic effects. Strengthening regulatory frameworks, promoting integrated pest management strategies, and raising farmer awareness can mitigate pesticide misuse. In Ethiopia, widespread pesticide use in vegetables raises concerns about consumer exposure to pesticide residues. This study determined the pesticide residue in vegetables in Southwest Ethiopia.

METHODS: The study was conducted in randomly selected districts of the Jimma zone. Samples of tomatoes, potatoes, cabbage, and onions were collected from vegetable farmers. The modified QuEChERS (Quick, Easy, Cheap, Effective, Rugged, and Safe) methods were used for sample preparation and extraction. The analysis of pesticide residues was performed using gas chromatography coupled with a mass spectrometer (GC-MS) and an ion trap analyzer with an automatic injection. The pesticide detection levels among types of vegetables and locations were analyzed using one-way Analysis of variance (ANOVA) with statistical significance set at p < 0.05.

RESULTS: Pesticide residues were detected in vegetables from Seka Chokorsa, Goma, and Dedo districts. Detected pesticides include Lindane, Aldrin, Chlorpyrifos, 4,4-DDE, Hexachlorobenzene, and Endosulfan II. The highest concentrations were found in the Dabo Gibe onion sample (Seka Chokorsa), the Waro Kolobo potato sample (Dedo), and the Ganji Dalacho cabbage sample (Goma). Lindane residues were found in onion and potato (Seka Chokorsa), exceeding the Maximum Residue Limit (MRL) of 10-50 µg/kg. Chlorpyrifos residues were detected below MRLs across all districts, while 4,4-DDE residues were also detected in some vegetables, indicating historical use of banned pesticides. ANOVA results showed small variation between groups, and there was no statistically significant difference across the four groups (p-value = 0.305). The study highlights the need for stricter regulation, farmer education, and residue monitoring to ensure food safety.

PMID:41770822 | DOI:10.1371/journal.pone.0343871

PLoS One. 2026 Mar 2;21(3):e0327148. doi: 10.1371/journal.pone.0327148. eCollection 2026.

ABSTRACT

BACKGROUND AND AIM: Health literacy refers to the ability to use relevant information to make informed choices. However, the quality of the available information influences how well individuals can make those choices. Evidence-based recommendations for the development and design of health information have recently been published. In this study, we aimed to map the quality of Norwegian web-based health information across selected public health domains.

METHODS: Using a multiple-cross-sectional design, we assessed information in 16 health domains relevant to infants, children, and youth. Convenience samples were drawn using structured Google searches. Three independent raters conducted the quality appraisal by applying the 19 criteria of the Mapping the quality of health information checklist. Inter-rater reliability was calculated using T-coefficients. Information quality was statistically described. To explain variance in quality, mean quality scores were compared across three independent variables: the type of the health problem, target group, and provider class.

RESULTS: Across the surveys, 1,948 health information materials from 64 subdomains were assessed. Inter-rater reliability was excellent (mean T = .89/.90). On average, the materials complied with 22% (range: 0-73%, standard deviation = .09) of the current minimal standard. Differences between types of problems or target groups were marginal. No differences were found between information provided by health authorities, health services, or commercial entities.

CONCLUSION: Norwegian web-based health information is not of sufficient quality to facilitate informed health choices made by citizens. These findings apply across a wide range of public health domains relating to infants, children, and youth. In the absence of appropriate health information of acceptable quality, estimates of the public’s level of health literacy may need reconsideration. Further research is needed to appraise the quality of information in other health domains and countries.

PMID:41770820 | DOI:10.1371/journal.pone.0327148

Vascular. 2026 Mar 2:17085381261425712. doi: 10.1177/17085381261425712. Online ahead of print.

ABSTRACT

ObjectivesPelvic congestion syndrome (PCS), often underdiagnosed, is a cause of chronic pelvic pain in women and is frequently associated with pelvic varicose veins. Endovascular embolization is an established treatment, traditionally performed via femoral or jugular access. However, these approaches may carry higher risks of complications. This study aimed to evaluate the safety, feasibility, and clinical outcomes of using basilic vein percutaneous access for pelvic vein embolization in patients with PCS.MethodsA retrospective cohort study was conducted on 292 women of reproductive age with symptomatic PCS who underwent pelvic varicose vein embolization using percutaneous access via the distal third of the right basilic vein. The study spanned from 2018 to 2023 and was carried out at two hospitals in Bogotá, Colombia. Inclusion criteria comprised chronic pelvic postcoital pain and Doppler-confirmed pelvic varicosities with reflux diameters >6 mm. Data collected included demographics, CEAP and Symptoms-Varices-Pathophysiology classifications, intraoperative details (access approach, duration, coil usage, complications), and postoperative outcomes (symptom resolution, complications, reintervention, ICU/hospital stay, and mortality). Follow-up evaluations were conducted at 15 days, 3 months, and 6 months post-procedure. Descriptive statistics were used for analysis. A detailed description of the surgical technique used for basilic vein access and embolization was included.ResultsAll 292 procedures were successfully performed using basilic vein access with no access-related complications such as bleeding, thrombosis, or hematoma. The average surgical duration was 41.1 min (SD = 4.1), and a mean of 2.6 coils (SD = 0.7) was used per case. The left gonadal vein was embolized in all patients, with additional embolization of the right gonadal (68.8%) and hypogastric veins (6.8%) when indicated. Only one patient (0.3%) experienced a coil migration resulting in pulmonary embolism, requiring reintervention and a short ICU stay. No mortalities were reported. Symptom resolution was achieved in 278 patients (95.2%), indicating high procedural effectiveness.ConclusionsBasilic vein access is a feasible and safe alternative for pelvic vein embolization in patients with PCS. This approach demonstrated excellent technical success, a low complication rate, and high symptom resolution, with the added benefits of shorter procedure time and reduced coil usage compared to traditional access routes. These findings suggest potential procedural and resource efficiency advantages. However, due to the study’s retrospective nature and lack of comparative controls, prospective studies are necessary to further assess the long-term efficacy and cost-effectiveness of basilic access in comparison to femoral and jugular approaches. Establishing standardized guidelines for vascular access in PCS treatment could enhance outcomes and procedural safety.

PMID:41766632 | DOI:10.1177/17085381261425712

Acta Orthop Belg. 2025 Sep;91(3):387-398. doi: 10.52628/91.3.14701.

ABSTRACT

Pathological femoral fractures resulting from primary or metastatic tumors represent a complex clinical challenge for orthopedic surgeons, often requiring individualized treatment strategies. This retrospective study aimed to evaluate and compare the outcomes of different surgical approaches used in the management of pathological femoral fractures secondary to metastatic disease. A total of 46 patients (52 femoral fractures) who underwent surgical treatment between 2020 and 2023 were included in the study. Data collected encompassed demographic characteristics, tumor histology, surgical techniques employed, and clinical outcomes. Statistical analysis was conducted using appropriate parametric and non-parametric tests, depending on data distribution. Of the patients included, 51% underwent tumor resection followed by endoprosthetic reconstruction, 40% were treated with intramedullary nailing, and 9.4% underwent plate osteosynthesis. The highest postoperative mortality rate was observed among patients with lung cancer metastases. Blood transfusions were necessary in 66% of cases. The overall mean survival time following surgery was 4.5 months, with significant variation according to tumor type and metastatic burden. The findings of this study underscore the importance of a multidisciplinary approach in the surgical management of pathological femoral fractures caused by metastatic tumors. Surgical interventions such as intramedullary nailing, plate fixation, and endoprosthetic reconstruction can effectively restore mechanical stability and contribute to improved patient quality of life. Selection of the optimal surgical technique should be guided by tumor histopathology, anatomical location and extent of bone involvement, number of metastatic lesions, and overall patient prognosis. Timely and appropriate surgical intervention remains critical to minimizing complications and enhancing survival outcomes in this patient population.

PMID:41766554 | DOI:10.52628/91.3.14701

Acta Orthop Belg. 2025 Sep;91(3):365-374. doi: 10.52628/91.3.12985.

ABSTRACT

BACKGROUND AND STUDY AIMS: The exact cause of spontaneously healing idiopathic osteonecrosis in the Legg-Calvé-Perthes disease (LCPD) is still unknown. Although it is postulated that thrombotic processes that occur as a result of genetic, epigenetic and environmental factors are at the forefront, the root cause cannot be fully elucidated. The aim of this study is to investigate underlying endothelial inflammation as a trigger of these pathophysiological mechanisms leading to LCPD.

MATERIALS: The levels of ICAM-1 and E-selectin in the local blood vessels around the femoral neck and peripheral veins of seven surgically treated LCPD patients and similar age controls were compared. These were reviewed together with the clinical and histopathological findings of the LCPD patients.

RESULTS: There were no statistically significant differences between each group’s ICAM-1 and E-selectin levels in the femoral neck region or the peripheral vessels (p>0.05). Histopathological examination revealed arterioles with thickened walls and luminal obliteration. Chronic synovitis with plasma cell and lymphocyte infiltration of different severity was detected in more than half of the patients. Proliferative synovitis with papillary proliferations was seen in two patients. The patients who had these histological findings also had endothelial marker levels above the cohort mean.

CONCLUSIONS: In summary, this study provided a comprehensive examination of LCPD patients. We observed arteriolar involvement and proliferative synovitis in multiple patients in the group.

CLINICAL RELEVANCE: This study provides important information about the pathophysiological basis of LCPD by combining clinical, molecular, and histopathological data. It is a comprehensive study in an uncommon population of surgically treated LCPD patients and similar age controls. To our knowledge, the findings of proliferative synovitis and arteriolar wall thickening have not been previously reported in the LCPD literature.

PMID:41766552 | DOI:10.52628/91.3.12985

Acta Orthop Belg. 2025 Sep;91(3):309-317. doi: 10.52628/91.3.14109.

ABSTRACT

Since its invention, the ball-and-socket prosthesis has played a significant role in treating carpometacarpal osteoarthritis of the thumb. One of the main postoperative complications remains prosthetic dislocation. To reduce this risk, engineers developed new designs – primarily the retentive cup and the dual-mobility cup. The aim of this study was to compare the stability and outcomes of these two designs, focusing specifically on dislocation as the primary variable. All Maia prostheses (n=118) implanted between 2019 and 2023 at a single institution by two surgeons using the same surgical technique were retrospectively reviewed. The type of implant, dislocation and complication rates, functional outcomes, and patient satisfaction were analyzed. Although the overall complication rates did not differ significantly between groups, the retentive cup group had a slightly higher rate of dislocation (n=2; 3%) compared to the dual-mobility group (n=0; 0%) (p = 0.55). Satisfaction rates, functional scores, QuickDASH results, and range of motion were similar between the two groups and comparable to those of the general age-matched population at midterm follow-up. This study found a low postoperative dislocation rate in both groups, with no dislocations in the dual-mobility group. Although the difference was not statistically significant, the dual-mobility design may demonstrate superior stability in larger cohorts. Both implant types showed reliable performance and high survival rates at midterm follow-up.

PMID:41766546 | DOI:10.52628/91.3.14109

Acta Orthop Belg. 2025 Sep;91(3):257-264. doi: 10.52628/91.3.10897.

ABSTRACT

OBJECTIVE: The aim of this study was to evaluate the effectiveness of Intra-articular abdominal adipose-derived mesenchymal stem cell (AD-MSC) therapy in patients diagnosed with knee osteoarthritis and to compare its effectiveness in patients with grade 2 and grade 3 osteoarthritis.

MATERIAL AND METHOD: The study group comprised 48 patients over the age of 18 that were diagnosed with Grade II or Grade III (Kellgren-Lawrence) primary knee osteoarthritis. Two-way comparative knee radiography was performed for all patients before the procedure. Intra-articular abdominal adipose-derived mesenchymal stem cell (AD-MSC) therapy was applied to all patients. The patients were evaluated with the VAS and WOMAC index before the treatment and 3 months and 6 months after the treatment.

RESULTS: A statistically significant decrease was found in the six-month follow-up WOMAC and VAS scores compared to the pre-treatment scores regardless of the grade of their osteoarthritis (p <0.001).

CONCLUSION: In conclusion, it was observed that the intra-articular injection of the AD-MSCs provided satisfactory functional recovery and pain relief for patients with knee osteoarthritis at six-month follow-up. No procedure-related adverse events were observed during the follow-up period.

PMID:41766540 | DOI:10.52628/91.3.10897

Stroke. 2026 Mar 2. doi: 10.1161/STROKEAHA.125.053747. Online ahead of print.

ABSTRACT

BACKGROUND: Moyamoya disease (MMD) has a strong genetic basis, with the rare RNF213 variant (rs112735431) representing a major risk factor, while the broader genetic architecture and disease-relevant vascular cell types remain incompletely understood.

METHODS: We conducted a genome-wide association study in Japanese individuals (n=47 656; 401 MMD cases and 47 255 controls). Population-level features at MMD risk loci were examined by regional allele frequency and haplotype analyses. We performed single-nucleus RNA-seq of superficial temporal arteries from patients with MMD (n=3). Cell type-specific enrichment of genome-wide association study signals was assessed using the Single-Cell Disease Relevance Score. Endothelial signatures were validated by integration with publicly available single-cell data sets from controls (n=5) and immunohistochemistry for candidate markers (n=1).

RESULTS: Beyond rs112735431, we identified a genome-wide significant signal in the HDAC9-TWIST1 region (P=3.3×10^-14; odds ratio, 1.77). Conditional analysis on rs112735431 revealed a protective RNF213 missense variant, p.Asn1331Gly (rs8074015; P=3.7×10^–9; odds ratio, 0.53), whose minor allele was mutually exclusive with rs112735431-A on haplotypes. Population analysis revealed geographic variation and extended haplotype structure of the rs112735431-A allele in Japan. Single-nucleus RNA-seq identified a mesenchymal-like endothelial cell (MEC) population with selective FN1 expression. Genome-wide association study-prioritized disease genes were strongly enriched in MECs. MECs showed mesenchymal pathway activation with a regulatory program distinct from canonical endothelial states. The proportion of MECs was markedly increased in MMD (72% versus 28% in controls), and FN1 expression in endothelial regions was confirmed by immunohistochemistry.

CONCLUSIONS: Our findings identify a protective RNF213 variant that is mutually exclusive with the known rs112735431-A allele. Genetic risk converges on an MEC state markedly expanded in MMD.

PMID:41766532 | DOI:10.1161/STROKEAHA.125.053747

Int J Inj Contr Saf Promot. 2026 Mar 2:1-7. doi: 10.1080/17457300.2026.2635094. Online ahead of print.

ABSTRACT

The growing number of road accidents in India has been a concern over the years. Alcohol and mobile phone use while driving have been found to be important factors in road injuries. Although legislative changes, like ‘The Motor Vehicle (Amendement) Act, 2019’, introduced stricter penalties to control dangerous driving behavior, limited evidence exists regarding their real-world impact in low and middle-income countries (LMICs) like India. This study examines the impact of increased penalties on alcohol and mobile-related accidents in India using “Road Accidents in India” reports. Accident trends were assessed before and after the implementation of stricter penalties using year-on-year statistical testing for proportion differences. Drunk driving and mobile phone-related violations increased until 2019 but showed a significant decline following the introduction of higher penalties, sustained up until 2021. Findings show that while stricter penalties help, lasting impact depends on consistent enforcement, public awareness, and attitudinal changes toward road safety.

PMID:41766491 | DOI:10.1080/17457300.2026.2635094