Tag: pubmed

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

Indian J Ophthalmol. 2026 Feb 1;74(2):279-285. doi: 10.4103/IJO.IJO_1395_25. Epub 2026 Jan 24.

ABSTRACT

PURPOSE: Age-related macular degeneration (AMD) is a leading cause of irreversible vision loss in the elderly. This study investigated the association of single-nucleotide polymorphisms (SNPs) in ARMS2, HTRA1, and CFH with AMD and its clinical phenotypes and systemic cytokine profiles in a North Indian population.

METHOD: A total of 113 AMD patients and 99 controls were genotyped using TaqMan assays. All patients underwent detailed ophthalmic evaluations, including optical coherence tomography (OCT), fundus photography, and angiography-based imaging. Serum cytokine levels were quantified using bead-based multiplex immunoassay and analyzed via flow cytometry. Statistical analyses were performed using SPSS v23.0, employing t-tests, ANOVA, and Mann-Whitney U tests.

RESULTS: Significant associations were observed between AMD and control for risk alleles in ARMS2 (36.3% vs 10.1%, P = 0.001), HTRA1 (37.2% vs 33.3%, P = 0.003), and CFH (27.4% vs 13.1%, P = 0.001). Genotype-phenotype correlations revealed that heterozygous and homozygous risk genotypes were significantly associated with hallmark AMD features such as pigment epithelial detachment (PED), choroidal neovascular membrane (CNVM), large drusen, and retinal pigment epithelium (RPE) atrophy. Cytokine profiling showed significantly reduced levels of erythropoietin (EPO) in AMD patients and granulocyte colony-stimulating factor (G-CSF) in controls (P = 0.044 and P = 0.023).

CONCLUSION: This study establishes novel genotype-phenotype correlations for ARMS2, HTRA1, and CFH SNPs in a North Indian cohort, linking heterozygous/homozygous risk alleles to distinct AMD clinical features. Reduced EPO and G-CSF levels suggest impaired neuroprotective/anti-inflammatory mechanisms, revealing dual pathways in AMD pathogenesis. By integrating these findings with global data, future efforts can deepen our understanding of AMD’s complex etiology and improve patient outcomes worldwide.

PMID:41581044 | DOI:10.4103/IJO.IJO_1395_25

Indian J Ophthalmol. 2026 Feb 1;74(2):274-278. doi: 10.4103/IJO.IJO_784_25. Epub 2026 Jan 24.

ABSTRACT

PURPOSE: To investigate the pathogenesis of type-2 macular telangiectasia (MacTel) by comparing the levels of glial fibrillary acidic protein (GFAP), aquaporin-4 (AQP4), and K+ inwardly rectifying channel 4.1 (Kir4.1) in the aqueous humor of diagnosed patients and individuals who had no ophthalmological disease.

METHODS: This prospective study included nine patients with cataract and MacTel type 2 (group 1) and patients without any ophthalmological pathology other than senile cataract (group 2). We comparatively analyzed the groups’ GFAP, AQP4, and Kir4.1 levels in the anterior chamber fluid, which was sampled intraoperatively during the cataract surgery.

RESULTS: The GFAP levels were found to be 601.18 ± 66.19 pg/mL in the patient group and 1059 ± 537 pg/mL in the control group, and the difference was statistically significant. (P = 0.019) The mean AQP4 levels were lower (1.5 ± 1.02 ng/mL) in the patient group than in the control group (2.81 ± 1.19 pg/mL) (P = 0.012). There was no significant difference in terms of the mean Kir4.1 levels between the groups (P = 0.453). There was a significant negative correlation between the postoperative best corrected visual acuity (logMAR) and GFAP and AQP4 (for GFAP; r = -0.473 P = 0.02, for AQP4 r = -0.463 P = 0.023).

DISCUSSION: GFAP and AQP4 levels may be related to glial cell dysfunction and disturbances in retinal fluid balance in the pathophysiology of MacTel type 2.

PMID:41581043 | DOI:10.4103/IJO.IJO_784_25

Indian J Ophthalmol. 2026 Feb 1;74(2):267-273. doi: 10.4103/IJO.IJO_2326_25. Epub 2026 Jan 24.

ABSTRACT

PURPOSE: To compare the biochemical and histopathological effects of ramucirumab and bevacizumab in a streptozotocin (STZ)-induced experimental diabetic retinopathy (DR) rat model.

METHODS: A total of 40 adult male Sprague-Dawley rats were divided into four groups: Control, STZ, STZ + bevacizumab (2.5 mg/kg, intraperitoneal, single dose), and STZ + ramucirumab (8 mg/kg, intraperitoneal, single dose). Oxidative stress and inflammatory markers, including superoxide dismutase (SOD), interleukin-1 beta (IL-1β), and transforming growth factor beta-1 (TGF-β1), as well as vascular endothelial growth factor-A (VEGF-A) levels, were measured using enzyme-linked immunosorbent assay. Histopathological evaluations were performed using hematoxylin-eosin, periodic acid-Schiff, and terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL) staining. Statistical analyses were conducted using ANOVA and nonparametric tests (P < 0.05).

RESULTS: STZ administration significantly increased VEGF-A and IL-1β levels while decreasing SOD levels. Both bevacizumab and ramucirumab significantly reduced VEGF-A and IL-1β levels and restored SOD values toward control levels. Histopathological analyses revealed that neovascularization, endothelial proliferation, basement membrane thickening, and vascular hyalinization observed in the STZ group were markedly reduced in the treatment groups. No significant difference in efficacy was detected between the bevacizumab and ramucirumab groups.

CONCLUSION: Ramucirumab provided biochemical and histopathological improvements comparable to bevacizumab in the experimental DR model. These findings suggest that ramucirumab may represent an alternative or complementary option to existing anti-VEGF therapies in ophthalmology. Furthermore, the results highlight the simultaneous role of angiogenesis, inflammation, and oxidative stress in the pathogenesis of DR. Larger, longer-term studies with different dosing protocols are warranted.

PMID:41581042 | DOI:10.4103/IJO.IJO_2326_25

Genet Med. 2026 Jan 21:102069. doi: 10.1016/j.gim.2026.102069. Online ahead of print.

ABSTRACT

BACKGROUND: Thoracic aortic aneurysms (TAA) are typically asymptomatic until rupture or dissection, with research indicating up to 20% may have a genetic basis. This study evaluates the prevalence of hereditary aortopathies and the utility of genetic testing in adults with TAA applying current ACC/AHA guidelines.

METHODS: We assessed 1,323 consecutive adult patients presenting for TAA evaluation between July 2022 and April 2025 at a large aortic center, enrolling 426 patients who underwent guideline-driven genetic testing. Median(IQR) age was 57 (50-64) years, 22.8% were female, and 11.3% had BAV. Mean aortic diameter was 4.6±0.48cm; 67.1% had TAA and 2.1% had dissections. Statistical analyses assessed the prevalence of genetic aortopathies and risk factors.

RESULTS: Of the 426 patients, 2.6% had diagnostic tests identifying pathogenic variants, 68.3% tested negative, and 29.1% had variants of unknown significance(VUS). Diagnostic tests were significantly associated with younger age(p=0.05) and root aneurysms(p<0.001). No VUS associations were demonstrated. Gender and BAV were not associated with diagnostic tests or VUS. TAA diagnosis <60 years and familial history had the highest utility of the ACC/AHA recommendations, but were not significant.

CONCLUSIONS: Our findings suggest a lower prevalence of genotype-positive TAA than previously reported in all TAA patients; highlighting the need for more refined genetic testing criteria focusing on high-risk individuals. Further research is essential to better define genetic testing’s role in TAA management.

PMID:41581011 | DOI:10.1016/j.gim.2026.102069

J Pediatr Endocrinol Metab. 2026 Jan 26. doi: 10.1515/jpem-2025-0733. Online ahead of print.

ABSTRACT

OBJECTIVES: This study aimed to evaluate changes in fear of hypoglycemia (FOH) and quality of life (QoL) following at least six months of continuous glucose monitoring (CGM) use in the same cohort with type 1 diabetes mellitus (T1DM).

METHODS: This was a prospective, observational study including first-time CGM users. Auxologic, laboratory, and CGM data was collected. All participants were asked to complete the validated Turkish versions of the Pediatric Quality of Life Inventory (PedsQL) 3.0 Diabetes Module for both children and parents; the quality of life for youth scale for adolescents; children’s hypoglycemia index (CHI).

RESULTS: When pre- and post-CGM scores were compared, the mean total CHI score significantly decreased (p=0.018). Among the subscales, significant reductions were also observed in the “specific situations” (p=0.044) and “behavior scales” (p=0.025) subscales, whereas the “general fears” did not show a significant change (p=0.396). In PedsQL forms, there were no statistically significant differences between pre- and post-CGM total or subscale scores. CGM metrics were also compared between participants who showed improvement in FOH and/or QoL and those who did not. Participants with improvement in FOH had significantly higher sensor active use percentages compared to those without improvement (98.95 vs. 93.0 %, p=0.039).

CONCLUSIONS: This study’s ability to assess pre- and post-CGM outcomes in the same patients highlights its clinical significance. Our findings suggest that using CGM in children and adolescents with T1DM is associated with a reduction in FOH.

PMID:41580998 | DOI:10.1515/jpem-2025-0733

Int J Epidemiol. 2026 Jan 2;55(1):dyaf227. doi: 10.1093/ije/dyaf227.

ABSTRACT

BACKGROUND: Italy, among the leading asbestos producers and users until the national ban in 1992, continues to register a high burden of asbestos-related diseases, mainly due to their long latency and delays in remediation. This study investigates the spatio-temporal evolution of pleural mesothelioma (PM) mortality over the past 40 years.

MATERIALS AND METHODS: Malignant pleural tumours and PM deaths (1980-2020) were extracted from the national death registry, adjusted for misclassification of pleural tumours, and analysed by region and birth cohort (1905-1984). The analyses by calendar period and cohort, stratified by sex assigned at birth, were followed by a space-cohort Bayesian Hierarchical Model with structured random effects for time (cohorts up to 1960-1969) and space (administrative regions).

RESULTS: In Italy, from 1980 to 2020, 35 134 people died from PM (24 380 males and 10 754 females). A mortality decrease was observed in males after 2010-14 and in females after 2000-4. Mortality steadily declined in both males and females across cohorts after 1935-44. The space-time analysis enabled the clear identification of the Italian regions most affected by PM.

CONCLUSION: Italy’s trend mirrors those of other Western countries that have banned asbestos, with the highest risks for birth cohorts in working age before the ban. The results reveal distinct spatio-temporal patterns, with the northern regions exhibiting the highest rates. The Italian experience with asbestos-related diseases detection could help other countries to assess the impact of asbestos, raise awareness, and promote a global ban on asbestos.

PMID:41580970 | DOI:10.1093/ije/dyaf227