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PubMed2026

Association of Enterocytozoon bieneusi Infection with chronic/persistent diarrhea and ITS genotypic diversity: a hospital-based case-control study in Suburban Shanghai, China.

Enterocytozoon bieneusi is a globally distributed zoonotic enteric pathogen that remains largely overlooked in routine diarrheal disease surveillance. Although previous studies in Shanghai, China, have reported elevated prevalence in diarrheal populations, case-control data from suburban areas at the peri‑urban interface and the strength of the association between E. bieneusi infection and chronic diarrhea in non-immunocompromised individuals remain poorly characterized. We performed a hospital-based case-control study in suburban Shanghai, enrolling 286 diarrheal outpatients without documented immunodeficiency and 138 asymptomatic controls frequency-matched for age and sex. Fecal specimens were collected and subjected to genomic DNA extraction. E. bieneusi was detected via nested PCR amplification of the ribosomal internal transcribed spacer (ITS) region. Factors associated with infection were identified using multivariate logistic regression. Genotypic diversity and zoonotic potential were assessed by Sanger sequencing and phylogenetic analysis. The overall prevalence of E. bieneusi was 12.2% (35/286) in diarrheal patients, significantly higher than the 2.2% (3/138) observed in asymptomatic controls (P < 0.001). E. bieneusi positivity was independently associated with chronic/persistent diarrhea (adjusted odds ratio = 2.63, 95% confidence interval: 1.25-5.54, P = 0.011). Fourteen distinct ITS genotypes were identified, comprising five known genotypes (D, EbpD, SHW7, Henan-III, and CHG5) and nine novel genotypes (designated SHH2 to SHH10). Thirteen genotypes clustered within Group 1, and one genotype (CHG5) fell within Group 2, two phylogenetic groups that contain genotypes with documented zoonotic potential in global surveillance. E. bieneusi was detected at a relatively high prevalence among diarrheal patients in suburban Shanghai, and its detection was associated with chronic/persistent diarrhea. The predominance of zoonotic genotypes and the identification of nine novel Group 1 genotypes indicate phylogenetic similarity to known zoonotic lineages and warrant further investigation of local zoonotic transmission; no animal or environmental samples were analyzed in this study. These findings suggest that E. bieneusi testing may be considered as part of the differential diagnosis for patients with unexplained chronic/persistent diarrhea and highlight the need for One Health surveillance in the surveyed area.

Diarrhea↗

PubMed2026

Effects of Adding Incentive Spirometry to Hospital-Based Cardiovascular Rehabilitation on Pulmonary Complications, Hospital Length of Stay, and Clinical-Functional Recovery After Cardiac Surgery: A Randomized Controlled Trial.

BACKGROUND AND PURPOSE: This study investigated the effects of combining incentive spirometry with cardiac rehabilitation compared with cardiac rehabilitation alone on postoperative pulmonary complications, clinical-functional recovery, and hospital length of stay in patients undergoing cardiac surgery. METHODS: Randomized controlled trial was conducted from May 2019 to October 2023 in two hospitals, including 46 inpatients undergoing cardiac surgery. Participants were assigned to incentive spirometry plus cardiac rehabilitation or cardiac rehabilitation alone. Both interventions were performed twice daily; spirometry used a volume-oriented device, and rehabilitation followed a seven-step protocol (2-4 METs). Outcomes included postoperative pulmonary complications, functional capacity (6-min walk test), handgrip strength, respiratory muscle function, and length of hospital stay. RESULTS: The incentive spirometry associated with cardiac rehabilitation group had a longer extracorporeal circulation time (98 ± 26 min) than the cardiac rehabilitation group (76 ± 1; p = 0.008). Both groups showed a postoperative decline in respiratory muscle strength, and walking distance (MD: -64.37 m; 95% CI: [-24.1; -104.6]; d = 0.71), with no difference in postoperative pulmonary complications and handgrip strength. The incentive spirometry associated with cardiac rehabilitation group did not significantly differ on postoperative hospital stay compared with the cardiac rehabilitation group (MD: -1 day; 95% CI: [-4.71; 2.71]; d = -0.19). CONCLUSIONS: In this study, no additional benefit was observed with the addition of incentive spirometry to cardiac rehabilitation compared with cardiac rehabilitation alone. No significant differences were detected between groups in postoperative pulmonary complications, hospital length of stay, or clinical-functional recovery among individuals undergoing cardiac surgery. TRIAL REGISTRATION: Brazilian Registry of Clinical Trials (REBEC) under the number RBR-8tsjf97.

Aged↗

PubMed2026

Mapping Sub-National Respiratory Virus Circulation in Cambodia Using Metatranscriptomic Sequencing: A Multi-Center Hospital-Based Surveillance Study.

BACKGROUND: Genomic surveillance can guide early detection of and response to emerging epidemics. Metatranscriptomic sequencing was used to investigate sub-national respiratory virus circulation in Cambodia from 2020 to 2023. METHODS: Nasopharyngeal swabs were collected from individuals aged 2 months to 65 years with influenza-like illness in four Cambodian hospitals. Metatranscriptomic data were generated by short-read RNA sequencing. Bernoulli space-time scan statistics were used to identify temporal virus clusters. Bayesian inference of phylogenetic trees was used to compute divergence times for temporally clustered, highly represented viruses (influenza A/H3N2 and B, Betacoronavirus 1, respiratory syncytial virus [RSV] A and B), and publicly available global influenza virus genomes. RESULTS: Of 1093 individuals, 499 (45.7%) had detectable respiratory viruses belonging to 68 distinct species. Moderate (N > 20) discrete time-clusters were noted of RSV-A (37 cases), Betacoronavirus 1 (21 cases), RSV-B (22 cases), and A/H3N2 (30 cases). The posterior median of time to most recent common ancestor ranged from 0.71 years (95% HPD 0.38-1.10) for Betacoronavirus 1 and 1.31 years (95% HPD 0.60-3.20) for A/H3N2, to 2.75 years (1.82-4.26) for RSV-A and 4.79 years (2.39-7.74) for RSV-B. A/H3N2 and influenza B virus genomes mapped to clades 3C.2a1b.2a.2a and Victoria 1A.3a.2, respectively, and inter-mixed with concurrent global strains. CONCLUSIONS: Multiple respiratory viruses circulated at a sub-national level in Cambodia from 2020 to 2023 despite pandemic disruptions. Influenza virus population diversity decreased during the height of lockdown but recovered in mid-2022. Re-emerging influenza strains were distinct from historically circulating strains and clustered with contemporaneous global variants, suggesting multiple external introductions.

Humans↗

PubMed2026

Integrated analysis of VEGFA rs833061 (- 460T > C) promoter polymorphism and serum YKL-40 levels in bladder cancer: evidence of a genotype-phenotype association.

BACKGROUND: Angiogenesis plays a central role in bladder cancer progression. VEGFA regulates angiogenesis, whereas YKL-40 is a pro-angiogenic biomarker. The relationship between VEGFA polymorphism and circulating YKL-40 remains unclear. METHODS AND RESULTS: A hospital-based case-control study involving 120 bladder cancer patients and 120 age- and sex-matched healthy controls was conducted. VEGFA rs833061 genotyping was performed using ARMS-PCR and confirmed by Sanger sequencing. Serum YKL-40 concentrations were measured by ELISA. Multivariable binary logistic regression analysis adjusted for age, sex, and smoking status demonstrated that the CT and TT genotypes remained independently associated with an increased risk of bladder cancer. Serum YKL-40 concentrations were significantly elevated in patients and increased progressively with tumor stage. TT genotype carriers exhibited the highest serum YKL-40 levels. CONCLUSIONS: After adjustment for age, sex, and smoking status, the VEGFA rs833061 polymorphism remained independently associated with bladder cancer susceptibility and circulating YKL-40 concentrations. These findings provide preliminary evidence of a genotype-phenotype relationship; however, validation in larger multicentre cohorts is required.

Humans↗

PubMed2026

Whole genome sequencing of unusual Hepatitis C virus subtypes and drug resistance analysis during direct-acting antiviral therapy in India.

INTRODUCTION AND OBJECTIVES: Pangenotypic direct-acting antivirals (DAA) are effective against highly prevalent Hepatitis C virus (HCV) subtypes, but have been clinically validated almost exclusively in high-income countries. Unusual HCV subtypes may carry natural polymorphisms, potentially impacting DAA susceptibility. We conducted full-genome characterization and resistance analysis of unusual HCV subtypes in patients receiving DAA treatment. PATIENTS AND METHODS: In this prospective hospital-based study, eligible patients were screened for anti-HCV antibodies and active infection was confirmed by diagnostic 5'NCR-based HCV RNA detection. Genotyping was performed by core region sequencing, and viral load quantified by real-time PCR. For whole genome sequencing, multiplex primers were designed using alignments of global reference sequences. Sequencing was carried out using the Oxford Nanopore Technology platform. Phylogenetic analysis used multiple sequence alignment and the HCV-GLUE resource for resistance-associated substitution (RAS) analysis. RESULTS: Predominant genotype was genotype 3 in 64.3% (n = 45); genotype 6 in 21.4% (n = 15); and genotype 1 in 14.2% (n = 10). Unusual HCV subtype 6xa was detected in two patients and showed no NS5A resistance mutations. One genotype 3b patient relapsed at 24 weeks post-DAA treatment completion and carried NS5A resistance-associated substitutions 30 K and 31 M both at baseline and at relapse, conferring high-level resistance to NS5A inhibitors. CONCLUSION: This is the first report from India of whole genome sequencing of HCV subtype 6xa. The identification of NS5A resistance mutations in the 3b relapse case underscores challenges for global HCV elimination strategies.

Humans↗

PubMed2026

Polygenic Risk Based Detection and Treatment of Subclinical Coronary Atherosclerosis in the PROACT Clinical Trials.

BACKGROUND: Coronary artery disease (CAD) polygenic risk scores (PRS) may identify individuals at elevated genetic risk "flying under the radar" in contemporary practice. The aims of the PROACT (Polygenic Risk Based Detection and Treatment of Subclinical Coronary Atherosclerosis) trials are to prospectively identify these individuals, quantify subclinical coronary plaque, and slow its progression with pharmacologic interventions. OBJECTIVES: The aim of this study is to report interim feasibility and implementation findings from PROACT, a genotype-first, biobank-enabled trial, characterizing eligibility yield, callback engagement, and subclinical coronary atherosclerosis on coronary computed tomographic angiography among individuals with high CAD PRS. METHODS: Within a hospital-based biobank, adults 40 to 75 years of age with high CAD PRS, without cardiovascular disease, and not on lipid-lowering therapy were invited. The authors characterize 2,495 eligible individuals with high CAD PRS, report on the feasibility and early operational outcomes of a genotype-first callback strategy for a clinical trial in the first 1,314 invited, and describe plaque prevalence by age and sex in the first 204 participants using coronary computed tomographic angiography. RESULTS: Among 64,092 genotyped participants, 2,495 (3.9%) were eligible and had high CAD PRS despite low clinical risk (median 10-year pooled cohort equations risk for atherosclerotic cardiovascular disease 3%; Q1-Q3: 1%-8%). Recruitment showed high engagement: among 1,314 invited individuals, 283 (21.5%) opted in, and 204 (15.5%) completed baseline imaging. Compared with participants who did not opt in, those who opted in had higher specialty care engagement and lived closer to the study site. Analysis of the first 204 participants enrolled by January 31, 2025 (mean age 56.3 ± 8.5 years, 69% women), showed that despite the low clinical risk and favorable cardiovascular health (mean Life's Essential 8 score 73.3 ± 11.5 vs the U.S. average of ∼65), one-half the participants (102 of 204) had subclinical plaque. Subclinical plaque prevalence was 76.2% in men and 38.3% in women and was high across age groups. CONCLUSIONS: These exploratory findings highlight the feasibility of implementing genotype-first recruitment for prevention trials and reveal a large proportion of "silent" high-genetic risk individuals with subclinical plaque for whom pharmacotherapy could be beneficial but who remain undetected by standard clinical assessments. (Polygenic Risk Based Detection of Subclinical Coronary Atherosclerosis and Change in Cardiovascular Health [PROACT 1], NCT05819814; Polygenic Risk Based Detection of Subclinical Coronary Atherosclerosis and Intervention With Statin and Colchicine [PROACT 2], NCT05850091).

Adult↗

PubMed2026

Resurgence and molecular epidemiology of dengue virus serotype 4 amid the COVID-19 pandemic in Thailand.

INTRODUCTION: Dengue virus serotype 4 (DENV4) co-circulates with other serotypes in Thailand, a hyperendemic setting characterized by cyclical shifts in serotype predominance. During the COVID-19 pandemic, related public health interventions may have influenced dengue detection, transmission and epidemiological dynamics. MATERIALS AND METHODS: A total of 413 dengue NS1/PCR-positive samples collected from 2018 to 2024 at a tertiary hospital in Bangkok were serotyped using a real-time PCR DENV1-4 subtyping assay. Forty-seven DENV4-positive samples (Ct < 32) underwent whole-genome sequencing using the ATOPlex DENV1-4 panel on the DNBSEQ-G99RS platform. Sequencing reads were processed using CLC Genomics Workbench, followed by phylogenetic, mutation, codon-based selection-pressure, and epitope-mapping analyses. RESULTS: DENV4 was identified in 18.2% (75/413) of samples, with 48% of cases requiring hospitalization. Detection increased markedly from 11.8% (22/186) during 2018-2021-23.3% (53/227) during 2022-2024 (proportion ratio, 1.97; p = 0.0025). Among the 47 whole-genome-sequenced samples, most strains clustered within genotype I lineage 4I_A.3 and showed lineage-associated non-synonymous substitutions. NS1-A90T, NS2A-L113F, and NS3-F523Y appeared exclusively during 2022-2024 (p < 0.001), whereas NS2A-L113F, NS5-G223S, and NS5-Q631R showed concordant positive-selection signals by FEL and MEME. CONCLUSIONS: This hospital-based study highlights an increase in DENV4 detection in Bangkok during 2022-2024 compared with 2018-2021, accompanied by predominance of lineage 4I_A.3 distinct from Malaysian and Indonesian strains reported during a similar period. These findings support integrated clinical and genomic surveillance to monitor DENV serotype and genotype dynamics and inform public health and vaccine strategies.

COVID-19 pandemic↗

PubMed2026

Maternal prior pregnancy outcome subtype and offspring cryptorchidism: A retrospective case-control study.

OBJECTIVE: To determine whether maternal prior pregnancy outcome subtype and frequency are associated with cryptorchidism in male offspring, and whether first-trimester exogenous progesterone exposure mediates any observed association. MATERIALS AND METHODS: We conducted a hospital-based retrospective case-control study of 1220 mother-son pairs (610 cryptorchidism cases; 610 controls). Maternal prior pregnancy outcome subtype was defined using a prespecified proximal-event approach based on the most recent qualifying pregnancy event before the index pregnancy: no prior pregnancy loss or termination, miscarriage, or pregnancy termination. Subtype-specific frequency was categorized as 0, 1, or ≥2. Adjusted odds ratios (aORs) were estimated using multivariable logistic regression; robustness was examined using 1:1 propensity score matching with conditional logistic regression. Exploratory mediation analysis estimated indirect effects through first-trimester exogenous progesterone exposure. RESULTS: In fully adjusted models, miscarriage was associated with higher odds of cryptorchidism compared with no prior pregnancy loss or termination (aOR 1.97; 95% CI 1.26-3.09), whereas pregnancy termination was not (aOR 1.14; 95% CI 0.86-1.52). In joint subtype-frequency analyses, odds increased with the number of miscarriages (one: aOR 1.74; 95% CI 1.07-2.83; two or more: aOR 3.77; 95% CI 1.22-11.66) and were higher for two or more pregnancy terminations (aOR 1.77; 95% CI 1.10-2.84). Matched analyses were directionally consistent. Mediation analyses suggested a modest indirect effect through first-trimester progesterone exposure for the miscarriage association. CONCLUSIONS: Maternal prior miscarriage was associated with cryptorchidism in male offspring, whereas pregnancy termination showed higher odds only among women with two or more prior procedures. First-trimester exogenous progesterone exposure may account for a modest proportion of the miscarriage-cryptorchidism association.

Humans↗

PubMed2026

Association of ERBB4 and SHBG gene polymorphisms with polycystic ovarian syndrome in South Indian women: a case-control genetic analysis.

INTRODUCTION: Polycystic ovary syndrome (PCOS) is a multifactorial endocrinological disorder with a substantial genetic component. However, the role of genes involved in follicular development and androgen regulation remains incompletely understood, particularly in South Indian populations. This study aimed to evaluate how variations in the ERBB4 and SHBG genes affect PCOS risk. METHODOLOGY: A hospital-based case-control study was conducted among 400 South Indian women, comprising 200 women with PCOS and 200 age-matched healthy controls. Genomic DNA was extracted to study SNPs at ERBB4 (rs2178575 and rs1351592) and SHBG (rs1799941 and rs727428) using ARMS-PCR genotyping. The study compared genotype and allele frequencies between cases and controls while assessing their associations with allelic, homozygous, heterozygous, dominant, recessive, and over-dominant genetic models. Genotyping accuracy was confirmed by re-genotyping and Sanger sequencing of a subset of samples. RESULTS: The ERBB4 rs2178575 polymorphism demonstrated a significant association with PCOS, as the AA genotype and A allele combination increased risk across all three genetic models, including homozygous, recessive, and allelic models. The ERBB4 rs1351592 variant was associated with 3-fold higher risk of PCOS in heterozygous and GC carriers. The SHBG rs1799941 polymorphism showed a significant link to PCOS through its effects on heterozygous and allelic states, whereas rs727428 displayed no significant connection due to its monomorphic distribution. CONCLUSION: These findings suggest that polymorphisms in ERBB4 and SHBG may contribute to PCOS susceptibility in South Indian women in a locus- and model-specific manner, revealing the intricate genetic structure that defines this medical condition.

Humans↗

PubMed2025

Clinical and Genetic Predictors of Sickle Cell Nephropathy: A Global Systematic Review.

Sickle cell disease (SCD) affects nearly 300,000 newborns annually worldwide, with 80% born in Africa. Sickle cell nephropathy (SCN) affects 5-18% of patients with SCD and contributes significantly to morbidity and mortality. Identifying SCN-associated factors would promote effective clinical management. We conducted a global systematic review in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis guidelines (Prospective Register of Systematic Reviews, registration number: CRD42020185763) to explore clinical and genetic correlates of SCN. We sought after cohort, case-control, and cross-sectional studies published up to December 31, 2024 that reported on clinical and/or genetic predictors of SCN in different populations globally. A total of 70 hospital-based study articles were finally included, with a leading percentage (45.7%) of the included studies performed in the United States, whereas 24.3% were from Sub-Saharan Africa. Most had a cross-sectional design (68.6%) involving children and adults. Genetic studies (17/70) identified associations with α-thalassemia, APOL1, and HMOX1 genes. The only genome-wide association study identified six suggestive variants in CRYL1, VWF, ADAMTS7, LRP1B, linc02288, and FPGT-TNNI3K/TNNI3K among adult patients. In conclusion, this systematic review (1) unpacks and highlights the role of clinical, genetic, and biochemical factors in the pathogenesis and progression of SCN and (2) reveals the consistent association of SCN with the 3.7 Kb deletion in HBA and variants in APOL1 and HMOX1 genes. This systematic review underscores the paucity of data from Africa, emphasizing the need for large-scale prospective studies on African SCN cohorts. Our findings also provide a foundation for the early identification of individuals at risk for SCN and the avenues for clinical and public health management strategies. To the best of our knowledge, this is the first systematic review summarizing risk factors for kidney dysfunction in SCD populations worldwide, which includes, specifically, a meta-analysis for APOL1 association with albuminuria.

Humans↗

PubMed2026

Utility of Dynamic MRI in Surgical Outcome of Patients With Degenerative Cervical Myelopathy: A Single-Center, Randomized Controlled Trial.

BACKGROUND AND OBJECTIVES: The utility of dynamic MRI (dMRI) in surgical planning and outcomes for degenerative cervical myelopathy (DCM) has not been validated in any prospective randomized trials. METHODS: In this hospital-based randomized controlled trial conducted between February 2023 and December 2024, patients with DCM were randomized into 2 groups: the Static MRI Group, where surgery was guided by conventional static MRI alone, and the dMRI Group, in which dMRI was performed, with the potential to alter the surgical approach. The primary outcome was recovery rate (RR) at 3 months. Secondary outcomes included postoperative changes in modified Japanese Orthopaedic Association scores and Nurick grades, surgical plan alterations, comparison of surgical approaches, and complication rates. RESULTS: Seventy-four patients were analyzed at a 3-month follow-up. The dMRI group had a significantly higher mean RR (55.42% ± 29.05%) than the Static group (46.76% ± 29.51%) ( P = .044). A RR of ≥50% was observed in 91.9% of patients in the dMRI group, compared with 59.4% in the static MRI group ( P = .002). Modified Japanese Orthopaedic Association scores improved more in the dMRI group (15.47 ± 2.62 vs 13.77 ± 2.66, P = .007). While Nurick grades improved in both groups, the intergroup difference was not statistically significant ( P = .151). dMRI altered the surgical plan in 59.5% of cases. Anterior approaches yielded better RR but had more complications. By contrast, posterior approaches had fewer but more severe complications including mortality. CONCLUSION: dMRI enhances the detection of clinically significant cord compression and may aid in surgical decision-making, potentially contributing to superior functional outcomes in DCM. Further studies are required to determine its impact on long-term functional outcomes.

Humans↗

PubMed2026

Knowledge on the Haemophilia Care Among Healthcare Providers in Tanzania: A Multicenter Cross-Sectional Study.

BACKGROUND: Haemophilia is a rare inherited bleeding disorder associated with recurrent bleeding, disability, and mortality when diagnosis and management are delayed. In low- and middle-income countries, limited diagnostic capacity, access to treatment and gaps in Healthcare Providers' (HCPs') knowledge are major contributors to morbidity and mortality. In Tanzania, the recent improvement in haemophilia services highlights the need for systematic evaluation of HCPs' knowledge and clinical practices. OBJECTIVE: The study assessed the knowledge of haemophilia care among healthcare providers in Tanzania. METHODS: A multicenter hospital-based cross-sectional study was conducted among HCPs in tertiary and regional hospitals in Tanzania. A structured self-administered questionnaire assessed knowledge on haemophilia, including the pathophysiology, clinical features, diagnosis, treatment, and complications. Data were analyzed using IBM SPSS statistics version 27. RESULTS: Among 799 HCPs assessed (50.9%) aged 20-29 and (59.2%) males. Nurses were the majority (31.8%), and 75.2% had ≤5 years' experience. Overall haemophilia knowledge was high (median 83.3%, IQR: 75.9-88.9), strongest performance in general knowledge and weakest in treatment (68.2%, IQR: 54.5-77.3). Most respondents identified haemophilia as inherited (95.6%), non-infectious (93.7%), and recognized prolonged bleeding after injury or circumcision as key-symptoms (>90%). Knowledge varied by cadre, department, and experience (p<0.05); physicians and specialists scored higher than nurses, while health attendants scored lower. CONCLUSION: Healthcare providers demonstrated fairly adequate general knowledge of haemophilia. However, gaps remain in understanding genetic inheritance, acquired haemophilia, and modern treatment strategies, with knowledge variation by cadre, department, and experience, highlighting the need for targeted education across all HCPs groups.

Tanzania↗

PubMed2026

MMP-2 rs243865 Polymorphism as a Risk Modifier of Hepatocellular Carcinoma in Taiwanese Males, Smokers and Alcohol Consumers.

BACKGROUND/AIM: Hepatocellular carcinoma (HCC) is one of the leading causes of cancer-related mortality worldwide. Matrix metalloproteinase-2 (MMP-2) plays an important role in extracellular matrix remodeling and HCC progression. This study investigated the associations of two functional MMP-2 promoter polymorphisms, rs243865 and rs2285053, with HCC susceptibility in a Taiwanese population and explored their potential interactions with environmental risk factors. MATERIALS AND METHODS: A hospital-based case-control study was conducted at China Medical University Hospital (Taichung, Taiwan), involving 298 HCC patients and 889 age- and sex-matched cancer-free controls recruited in Taiwan. MMP-2 rs243865 and rs2285053 genotypes were determined utilizing polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. Stratified analyses were used to explore their potential interactions between MMP-2 genotypes and environmental factors including sex, smoking and alcohol drinking status. RESULTS: No significant association was observed between HCC susceptibility and either rs243865 (CT+TT versus CC: odds ratio (OR)=1.20, 95% confidence interval (CI)=0.87-1.66, p=0.2944] or rs2285053 (CT+TT versus CC: OR=1.12, 95% CI=0.86-1.46, p=0.4219). Similarly, allelic analyses revealed no significant effects. Interestingly, stratified analyses demonstrated significant gene-environment interactions for rs243865. Male carriers of the TT genotype exhibited an increased HCC risk (OR=3.24, 95% CI=1.12-9.37, p=0.0488). Among smokers, the TT genotype was associated with a markedly elevated risk (OR=6.46, 95% CI=1.65-25.29, p=0.0055), while alcohol drinkers carrying the TT genotype showed the highest susceptibility (OR=9.69, 95% CI=1.99-47.13, p=0.0022). No significant association was found for rs2285053 genotype in any genetic variant and subgroup. CONCLUSION: Although MMP-2 rs243865 and rs2285053 do not independently determine HCC susceptibility, rs243865 T allele may serve as a genetic biomarker for identifying Taiwanese males, smokers, and alcohol drinkers at elevated risk of HCC. These findings highlight the importance of gene-environment interactions in hepatocarcinogenesis and support the incorporation of genetic information into personalized HCC risk assessment and prediction strategies.

Humans↗

PubMed2026

Revealing the Association of LIG1 Genetic Variants With Pterygium Susceptibility and Demographic Characteristics in a Taiwanese Population.

BACKGROUND/AIM: Pterygium is a common ocular surface disorder associated with long-term ultraviolet exposure and/or oxidative DNA damage. Accumulated evidence suggests that defects in DNA repair pathways may contribute to pterygium risk. DNA ligase I (LIG1), a key enzyme involved in DNA replication and base excision repair, has been involved in the etiology of several human diseases, including cancers. However, its role in pterygium has never been examined before. This study aimed at exploring the association between the LIG1 genotypes and pterygium risk in a Taiwanese population. PATIENTS AND METHODS: The hospital-based case-control study was conducted including 165 patients with pterygium and 320 age- and sex-matched non-pterygium controls. LIG1 rs20579 genotypes were accessed utilizing polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology. Stratified analysis and the calculation of odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were used for evaluating the associations between genotypes and pterygium risk. RESULTS: Individuals carrying the homozygous variant AA genotype exhibited a significantly elevated risk of pterygium compared with those carrying the GG genotype (OR=2.74, 95% CI=1.17-6.43, p=0.0305). Under the recessive model, the AA genotype conferred a 2.65-fold elevated risk (95% CI=1.14-6.18, p=0.0350). The variant A allele was also associated with increased susceptibility (OR=1.46, 95% CI=1.03-2.07, p=0.0413). Stratified analyses revealed significant associations specifically among individuals aged ≥60 years (OR=5.64, 95% CI=1.67-19.04, p=0.0039) and males (OR=5.23, 95% CI=1.74-15.73, p=0.0034), but not those of younger ages or females. CONCLUSION: The LIG1 rs20579 genotype is significantly associated with pterygium susceptibility in Taiwanese individuals, particularly among elderly and male subjects. These findings support the involvement of impaired DNA repair machinery in pterygium pathogenesis and suggest that LIG1 rs20579 may serve as a novel genetic biomarker for risk assessment and early detection of pterygium.

Humans↗

PubMed2026

Development and external validation of an explainable machine learning model for predicting chronic kidney disease progression in the Korean population.

BACKGROUND: Current risk stratification models, such as the Kidney Failure Risk Equation (KFRE), exhibit variable performance across ethnic groups and fail to capture dynamic clinical trajectories. This study aimed to develop and validate a Korean-specific machine learning (ML) model for predicting chronic kidney disease (CKD) progression using an ensemble approach. METHODS: We used electronic health records from Seoul National University Hospital for model development (n = 28,209) and the Korean Genome and Epidemiology Study (KoGES) CKD cohort for external validation (n = 3,960). The primary outcome was a composite of ≥40% decline in estimated glomerular filtration rate (eGFR) or progression to end-stage renal disease within 2 years. A soft-voting ensemble of four ML algorithms (XGBoost, LightGBM, CatBoost, and Random Forest) was developed. RESULTS: The ensemble model demonstrated robust discrimination in internal validation (area under the receiver operating characteristic curve [AUROC], 0.939; 95% confidence interval [CI], 0.934-0.944), significantly exceeding the KFRE (AUROC, 0.879-0.884). External validation in the KoGES cohort showed comparable discrimination (AUROC, 0.859; 95% CI, 0.798-0.914) versus KFRE (four-variable AUROC, 0.882; 95% CI, 0.818-0.935). Shapley Additive exPlanations (SHAP) analysis identified baseline eGFR, serum creatinine, eGFR slope, albumin, and hemoglobin as key prognostic features, supporting a complementary framework using KFRE for community screening and the ML model for hospital-based risk stratification. CONCLUSION: The ensemble ML model accurately predicts short-term CKD progression in Korean patients. By incorporating longitudinal features and ensemble learning, it provides a precise alternative to Western-derived equations, particularly in tertiary care settings.

Chronic kidney failure↗

PubMed2025

Resistance & virulence traits in dermatophytes isolated from Mangaluru, India.

Background & objectives Dermatophytes are accountable for the majority of fungal skin infections globally, affecting 20-25 per cent of the world population. Though not fatal, these infections have significant psychosocial impacts and reduce the quality of life. Prevalence of the infection varies geographically, influenced by factors like social practices, migration and climate. Understanding the pathogenicity of dermatophytosis including virulence factors and drug resistance, is necessary to identify factors that predispose recalcitrance. Methods A prospective hospital-based study was carried out in the dermatology departments of two tertiary care hospitals in Mangaluru, India from November 2018 to March 2021. We included 93 individuals of recalcitrant tinea infections, and excluded those with diabetes or those under immunosuppressive therapy. Skin scrapings from lesions were cultured, and DNA extracted for ITS sequencing. All samples were processed for antifungal susceptibility testing, and mutation analysis in squalene epoxidase gene for representative isolates and virulence factor assays. Results Of 93 clinically diagnosed individuals with dermatophytosis, dermatophytes were recovered in 70.96 per cent samples, with Trichophyton mentagrophytes complex being the most common agent. Antifungal susceptibility testing showed high MICs for fluconazole, terbinafine and itraconazole in several isolates, indicating in-vitro resistance. Mutation analysis for six isolates revealed missense mutations in the squalene epoxidase gene. Virulence activity analysis showed high enzyme production levels among isolates, contributing to their pathogenicity. Interpretation & conclusions These findings underscore the complexity of dermatophytosis and emphasize the need for persistent tracking of antifungal resistance patterns and virulence factors. Such insights are vital for developing effective treatment strategies and improving patient outcomes due to rising antifungal resistance.

Humans↗

PubMed2026

Evaluation of population-specific polygenic risk scores for blood lipids: insights from Taiwanese cohorts and multiancestry meta-analysis.

BACKGROUND: Blood lipids are heritable risk factors for cardiovascular disease (CVD), a leading cause of mortality worldwide. However, the genetic architecture of lipid traits and the performance of polygenic risk scores (PRSs) remain underexplored in East Asian (EAS) populations, including Taiwanese Han individuals. METHODS: We conducted genome-wide association studies and PRS analyses for five lipid traits: total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, and the ratio of low-density lipoprotein cholesterol to total cholesterol. Lipid profile data were obtained from the China Medical University Hospital cohort. PRSs were evaluated on the basis of their correlations with measured lipid levels. To evaluate trans-ancestry PRS transferability, localized models were systematically compared against models derived from discovery-stage GWAS meta-analyses incorporating five ancestry groups from the Global Lipids Genetics Consortium. The performance of the PRS models in predicting lipid-related diseases was evaluated through receiver operating characteristic curve analyses. RESULTS: The population-specific PRS models explained 11%-40% of the variance in lipid levels within the target cohort. Models leveraging global multiancestry GWAS meta-analysis weights revealed limited predictive performance (r 2 = 0.04-0.19), whereas analyses incorporating EAS-specific data yielded higher correlations (r 2 = 0.13-0.30), although these correlations did not exceed those derived from the hospital-based cohort alone. When combined with age and sex, the PRS models demonstrated strong predictive performance for coronary artery disease, atherosclerosis, and ischemic stroke, with area under the curve values of 0.910, 0.926, and 0.854, respectively. CONCLUSION: Population-specific PRS models derived from a Taiwanese population outperformed meta-analysis-derived frameworks in predicting lipid levels and demonstrated substantial potential for predicting CVD risk, indicating the importance of ancestry-matched genetic studies in precision medicine.

LDL-C/TC ratio↗

PubMed2026

Clinical, epidemiological, and genomic evidence on mpox in mainland China, 2022-2025: a scoping review.

BACKGROUND: Since 2022, mpox has expanded globally with sustained human-to-human transmission and increasing evidence of MPXV genomic diversification. In mainland China, mpox evidence has accumulated rapidly, but clinical, epidemiological, and genomic findings remain fragmented. METHODS: We conducted a scoping review of PubMed, CNKI, and WanFang databases up to March 2, 2026, and integrated literature-derived evidence with public MPXV sequences from GenBank, GenBase, and GISAID. Literature-derived data were used to map clinical-epidemiological characteristics, study-level genomic evidence, sequencing coverage, and reported lineage distribution. Curated public MPXV sequences were used for phylogenetic reconstruction, amino acid mutation profiling, and APOBEC-like substitution analysis. RESULTS: Fifty-eight studies were included: 32 addressed clinical or epidemiological evidence only, 25 addressed genomic evidence only, and one contributed to both domains. Fourteen hospital-based studies summarized 951 cases, showing that reported cases were concentrated among young adult men, with frequent MSM exposure (798/897, 89.0%; 95% CI 86.7-90.9%) and HIV co-infection (469/951, 49.3%; 95% CI 46.1-52.5%). Public sequence curation identified 231 unique mainland China MPXV sequences, of which 230 were used for phylogenetic and mutation analyses. Literature-based genomic evidence comprised 26 genomic studies, 37 study-level genomic records, and 31 reported-case units, including 414 sequenced cases among 530 reported cases (78.1%; 95% CI 74.4-81.4%). Clade IIb predominated among sequenced cases (412/414, 99.5%; 95% CI 98.3-99.9%), with C.1.1 and C.1 most frequently represented. Within the available dataset, public genomes represented multiple lineages and were unevenly distributed across regions and time. Mutation analysis revealed dispersed amino acid variation and a predominance of G>A and C>T transitions (73.0%). After collapsing recurrent substitutions to unique genomic sites, the proportion of G>A/C>T transitions decreased to 35.8% and further to 17.8% under a strict APOBEC3 motif definition, indicating that the observed mutation spectrum includes both shared lineage-associated substitutions and sequence-context-based APOBEC-like patterns. CONCLUSION: Available evidence indicates multi-lineage MPXV circulation and in mainland China, but interpretation remains constrained by uneven sequencing and lack of individual-level clinical-genomic linkage. Integrated genomic surveillance and standardized data linkage are needed to better characterize MPXV transmission and evolution.

APOBEC‑like substitutions↗