Nevin Manimala

Acta Diabetol. 2025 Jun 20. doi: 10.1007/s00592-025-02544-w. Online ahead of print.

ABSTRACT

AIMS: This study evaluates the contribution of common variants in Maturity-Onset Diabetes of the Young (MODY) genes on type 1 diabetes (T1D), using a polygenic score (PGS) approach.

METHODS: 485 children and youth diagnosed with T1D from at least 1 year and 271 healthy controls (HC) were recruited. Personal information (i.e. age, sex, height, weight) were collected for each participant, and clinical information (i.e. age at diagnosis, disease duration, presence of autoantibodies and ketoacidosis at onset (DKA)) were also obtained for T1D subjects. Participants were genotyped using Illumina Infinium Global Screening Array. PGS based on Single Nucleotide Polymorphisms (SNPs) in 16 MODY genes were developed. The association of this PGS with T1D susceptibility and clinical disease characteristics was assessed by regression analysis.

RESULTS: A PGS including 335 SNPs in MODY genes discriminates T1D from HC (AUC = 60.1%, AIC = 787.6). This PGS was significantly higher in T1D compared to HC (p-value = 0.0004, pseudo-R2 = 2.85%). Moreover, regression analysis between PGS and T1D clinical characteristics showed higher PGS values in T1D subjects with zinc transporter 8 autoantibodies (ZnT8A) compared with T1D subjects without ZnT8A (p-value = 0.04). A similar trend was also observed for antibodies directed against glutamic acid decarboxylase (GADA), although the association did not reach statistical significance (p-value = 0.06).

CONCLUSIONS: Our study suggests that a polygenic approach based on MODY genes may discriminate T1D from HC and may contribute to patient stratification, helping to better understand T1D heterogeneity.

PMID:40540212 | DOI:10.1007/s00592-025-02544-w

Int Ophthalmol. 2025 Jun 20;45(1):252. doi: 10.1007/s10792-025-03631-1.

ABSTRACT

PURPOSE: This study aimed to evaluate the short-term effects of topical latanoprostene bunod on corneal and anterior segment parameters in patients with primary open-angle glaucoma (POAG).

METHODS: A prospective, cross-sectional study was conducted on 30 eyes of 30 patients with POAG. All participants received topical latanoprostene bunod monotherapy. Corneal and anterior segment parameters, including keratometry, corneal thickness, endothelial cell characteristics, and corneal densitometry, were measured before and approximately after one month of treatment using the Pentacam HR and non-contact specular microscopy. Statistical analysis was performed to compare pre- and post-treatment measurements.

RESULTS: No significant changes were observed in corneal keratometry, endothelial cell density, hexagonality, or anterior chamber parameters including anterior chamber angle, depth, and volume following treatment (p > 0.05 for all). Although reductions in central corneal thickness and thinnest corneal thickness were noted, these changes were not statistically significant (p > 0.05 for both). A significant decrease in densitometric parameters was observed in most corneal zones after treatment, including anterior, central, posterior, and total thickness measurements (p < 0.05 for all). In contrast, no significant change was found in the peripheral 10-12 mm zones (p > 0.05 for all).

CONCLUSION: Short-term use of latanoprostene bunod reduced corneal densitometry values, suggesting improved corneal transparency without significantly affecting corneal thickness, endothelial cell characteristics, or anterior segment parameters. Further long-term studies with larger sample sizes are needed to evaluate its prolonged effects on corneal health.

PMID:40540210 | DOI:10.1007/s10792-025-03631-1

Brain Imaging Behav. 2025 Jun 20. doi: 10.1007/s11682-025-01029-2. Online ahead of print.

ABSTRACT

The aim of this study is to investigate the disparities in volumes of hippocampal subfields and alterations in whole-brain functional connectivity among individuals diagnosed with diabetic retinopathy (DR). This study comprised a total of 32 diabetic patients with retinopathy (DR group, n = 32) and 38 healthy adults (HC group, n = 38), who underwent psychological cognitive testing along with structural and functional magnetic resonance imaging. The FreeSurfer software was utilized for the extraction and computation of hippocampal subfield volumes, as well as the overall volumes of the left and right hippocampus. The volumetric comparisons were conducted by employing independent sample t-tests in SPSS 26.0. The functional connectivity comparisons were subjected to statistical analysis using the Matlab software. Age, education level and grnder were used as control variables, and partial correlation analysis was performed to investigate the relationship between differences in volume and functional connectivity values with psychological cognitive test results and clinical indicators. The volume of the left hippocampal tail and fissure, as well as the right hippocampal C3, C4 and fissure regions in the DR patient group, exhibited significant differences compared to the HC group (P < 0.05, FDR < 0.05). Regions of interest were identified based on the segmented volume differences, and compared to the HC group, enhanced connectivity was observed between the left hippocampal tail and the left caudate nucleus (MNI: x,y, z=-6, 12, 9) and the right caudate nucleus (MNI: x,y, z = 9, 12, 12) in DR patients. Additionally, reduced connectivity was observed between the left hippocampal fissure and the right precentral gyrus (MNI: x, y, z = 57, 0, 45) and the right supplementary motor area (MNI: x, y, z = 9, 3, 60). Partial correlation analysis, with age, education level, and gender as covariates, showed no significant associations between the imaging changes and clinical indicators or cognitive scores. The alterations in hippocampal volume and function observed in patients with DR may potentially underlie their cognitive impairment and sensorimotor deficits, thus suggesting a plausible neuropathological mechanism.

PMID:40540191 | DOI:10.1007/s11682-025-01029-2

Int Ophthalmol. 2025 Jun 20;45(1):255. doi: 10.1007/s10792-025-03632-0.

ABSTRACT

PURPOSE: To investigate the main reasons related to non-surgical discharge (NSDS) among patients recruited for cataract surgery in the Northwest Indian screening camps (SCs) and evaluate the potential actions that could be undertaken to improve the SC programs in India.

METHODS: Retrospective cross-sectional analysis of patients’ medical records selected for elective cataract surgery at Sankara Eye Hospital, a tertiary eye care center in Jaipur, Rajasthan, between January 1 and December 31, 2023. After SCs’ thorough examination, recruited patients suitable for cataract surgery were further evaluated in the hospital to assess anesthetic and ophthalmic suitability. Reasons for NSDS, classified as patient-related, administrative-related, and anesthesia-related, were recorded. Univariate and multivariablelogistic regression were conducted to evaluate the effects of statistically significant variables on the reasons for NSDS.

RESULTS: 13,219 patients were recruited from screening to undergo cataract surgery. Of 13,219, 1036 (7.8%) were discharged without surgical interventions. Patient-related reasons accounted for 57.14% of total causes, with 301 (29.06%) patients refusing to consent to surgery. 78 patients (7.5%) were discharged due to the lack of the required intraocular lens, whereas 288 patients (27.8%) reported a blood pressure > 140/90 mmHg, whereas 22 (2.1%) were discharged due to uncontrolled diabetes. Patients aged 65 years or older had 1.61-fold greater odds of being discharged due to anesthesia-related causes (95% Confidence Interval [CI]: 1.23-2.10, p < 0.001) compared to patients aged less than 65 years.

CONCLUSIONS: Albeit rare, NSDS-related factors should be considered to better counsel patients in SCs and prevent avoidable blindness in India.

PMID:40540165 | DOI:10.1007/s10792-025-03632-0

AMB Express. 2025 Jun 20;15(1):97. doi: 10.1186/s13568-025-01903-8.

ABSTRACT

Emerging evidence links gut microbiota (GM) to venous thromboembolism (VTE), deep vein thrombosis (DVT), and pulmonary embolism (PE), but causal insights are limited. Using two-sample Mendelian randomization (MR), we assessed causal effects of 211 GM taxa and 489 plasma metabolites on VTE/DVT/PE. Genetic instruments (single nucleotide polymorphism) for GM and metabolites were leveraged to infer causality, complemented by mediation and pathway analyses. Sixteen GM taxa (e.g., protective Firmicutes, Clostridia; risk-enhancing Bacteroidetes, Desulfovibrionaceae) and 40 metabolites showed causal associations with VTE/DVT/PE. Reverse MR identified 11 GM changes secondary to thrombosis. No pleiotropy or heterogeneity was detected. Ten metabolite-mediated pathways (e.g., arginine biosynthesis) bridged GM to thrombosis, suggesting GM-metabolite interactions as potential biomarkers for thrombotic risk stratification and prognosis.

PMID:40540143 | DOI:10.1186/s13568-025-01903-8

Int Ophthalmol. 2025 Jun 20;45(1):249. doi: 10.1007/s10792-025-03633-z.

ABSTRACT

PURPOSE: This study aims to investigate the effects of vitreopapillary adhesion (VPA) on the optic disc (OD) microvascular structure using optical coherence tomography angiography (OCTA).

METHODS: Thirty five patients with complete PVD at the posterior pole and residual optic disc adhesion (stage 3) (using the posterior vitreous detachment (PVD) staging by Uchino et al.) were included in the study. As a control group, 34 healthy individuals were included. RNFL thickness, rim area, disc area, cup/disc ratio, perfusion and flux index measurements were analysed with an optical coherence tomography angiography (OCTA).

RESULTS: While there was no statistically significant difference between the retinal nerve fiber layer thicknesses of both groups except the upper quadrant, the upper quadrant of RNFL thickness was found to be statistically significantly thinner in the vitreo-papillary adhesion (VPA) group. Mean value of disc area was 1.94 ± 0.38 in the adhesion group and 2.17 ± 0.42 in the control group (p = 0.060). Cup/disc ratios of VPA and control groups were 0.16 ± 0.15, 0.44 ± 0.14, respectively (p = 0.000).Cup volumes were also statistically significantly smaller in the adhesion group in parallel with the c/d ratio (0.02 ± 0.04, 0.16 ± 0.19 p = 0.000). Optic disc perfusions were 43.77% ± 2.22% in the adhesion group and 45.31 ± 1.20% in the control group (p = 0.003).

CONCLUSION: The significantly lower C/D ratio and cup volume in patients with vitreopapillary adhesion indicates that adhesion may occur more frequently in especially crowded discs. Although OCTA may be misleading in VPA patients, close monitoring of increased synretic vitreous gel traction on the OD with OCTA may be beneficial especially in patients with completed macular PVD. Monitoring VPA with OCTA may provide valuable insights into early vascular alterations that may contribute to non-arteritic anterior ischemic optic neuropathy (NAION) or papillary vitreous detachment neuropathy.

PMID:40540137 | DOI:10.1007/s10792-025-03633-z

Neurol Sci. 2025 Jun 20. doi: 10.1007/s10072-025-08303-7. Online ahead of print.

ABSTRACT

BACKGROUND: The development of idiopathic adult-onset dystonia (IAOD) in different body parts is associated with specific demographic and clinical characteristics, as well as with specific risk factors.

OBJECTIVE: To investigate whether specific occupations are associated with specific forms of IAOD at onset, namely blepharospasm (BSP), cervical dystonia (CD), and task-specific upper limb dystonia (TS-ULD).

METHODS: Data from 905 IAOD patients enrolled in the Italian Dystonia Registry were analysed. Each patient was assigned to the corresponding occupational category by specialists in occupational medicine according to the classification of the Italian National Institute of Statistics. Logistic regression models (adjusted for sex, year of birth, Italian geographical areas, and age at dystonia onset) were computed to assess the association between occupation and specific dystonia at onset, using patients who developed focal dystonia in other body parts as controls.

RESULTS: Compared to other occupations, trades workers exhibited an increased risk for BSP at onset (OR = 2.6, 95% CI 1.6-4.2), cleaners for CD (OR = 3.4, 95% CI 1.2-9.9), and musicians for TS-ULD (OR = 36.3, 95% CI 11.3-117.1). The longer the duration of employment before the onset of dystonia, the greater the risk of dystonia.

CONCLUSIONS: We provided novel information indicating that exposure to specific occupations may trigger specific forms of IAOD, namely BSP, CD, and TS-ULD. The associations highlighted by this study may reflect a common pathophysiological mechanism relying on the frequent performance of repetitive movements in a specific body part.

PMID:40540127 | DOI:10.1007/s10072-025-08303-7

Int J Clin Pharm. 2025 Jun 20. doi: 10.1007/s11096-025-01954-8. Online ahead of print.

ABSTRACT

INTRODUCTION: It is important for health professional societies to involve members in defining their roles and future activities including research priorities.

AIM: This study aimed to identify members’ views on the areas of research that European Society of Clinical Pharmacy (ESCP) should prioritise in delivering research support, research projects and education.

METHOD: An online questionnaire was initially developed by the ESCP Research Committee and reviewed by the research team. It included structured and open-ended items related to respondents’ demographics, research experience, views on future research priorities, topics that ESCP should prioritise, and barriers to research involvement. After testing face and content validity, the questionnaire was sent to all ESCP members (N = 417). Descriptive statistics and summative content analysis were used.

RESULTS: Eighty-two responses were received (response rate: 19.7%). Research on real-world processes that facilitate the implementation of clinical pharmacy services into every-day practice was the priority for most respondents (n = 77, 93.9%). Respondents believed that ESCP should focus on research support for implementation science (n = 52, 63.4%) and methods to analyse clinical judgement and decision-making (n = 48, 58.5%). The perceived barriers to developing high-quality research in clinical pharmacy were reported as a lack of knowledge, skills and training, limited funding opportunities and insufficient time.

CONCLUSION: Research topics identified will help to inform ESCP and its committees on the priorities for research activities of the society in the near future, as well as other collaborating professional organisations of the current priority research objectives of ESCP in the international context.

PMID:40540123 | DOI:10.1007/s11096-025-01954-8

J Sleep Res. 2025 Jun 19:e70113. doi: 10.1111/jsr.70113. Online ahead of print.

ABSTRACT

Manual scoring of polysomnography (PSG) is a time-intensive task, prone to inter-scorer variability that can impact diagnostic reliability. This study investigates the integration of decision support systems (DSS) into PSG scoring workflows, focusing on their effects on accuracy, scoring time and potential biases toward recommendations from artificial intelligence (AI) compared to human-generated recommendations. Using a novel online scoring platform, we conducted a repeated-measures study with sleep technologists, who scored traditional and self-applied PSGs. Participants were occasionally presented with recommendations labelled as either human- or AI-generated. As the goal of this study was to isolate the effect of perceived recommendation sources on scorer behaviour, all recommendations were human-generated. We found that traditional PSGs tended to be scored slightly more accurately than self-applied PSGs, but this difference was not statistically significant. Correct recommendations significantly improved scoring accuracy for both PSG types, while incorrect recommendations reduced accuracy. No significant bias was observed toward or against AI-generated recommendations compared to human-generated recommendations. These findings highlight the potential of DSSs to enhance PSG scoring reliability. However, ensuring the accuracy of the suggestions is critical to maximising its benefits. Future research should explore the long-term impacts of DSS on scoring workflows and strategies for integrating AI in clinical practice.

PMID:40537888 | DOI:10.1111/jsr.70113

Eur J Med Res. 2025 Jun 19;30(1):492. doi: 10.1186/s40001-025-02695-0.

ABSTRACT

BACKGROUND: Rheumatoid arthritis (RA), carpal tunnel syndrome (CTS), trigger finger (TF), Dupuytren’s disease (DD) and de Quervain tenosynovitis (DQT) are musculoskeletal disorders that affect hand abilities. Previous studies have suggested inconsistent results on their association. This study aims to determine the cause-and-effect relationship between RA and other four hand disorders.

METHODS: We collected summary-level statistics for RA, CTS, TF, DD, and DQT from genome-wide association studies (GWAS). A univariable Mendelian randomization (UVMR) analysis was conducted to investigate the cause-and-effect relationship between RA and other hand conditions. Furthermore, a multivariable Mendelian randomization (MVMR) analysis was conducted to evaluate the influence of confounding variables such as glycemia, obesity, and lifestyle factors on this causal association. The robustness of our findings is assessed by a series of sensitivity analyses at the end.

RESULTS: The inverse variance-weighted method in UVMR revealed that genetically predicted RA was positively associated with risks of CTS (OR = 04, 95% CI 1.01-1.07, P = 4.97E-03), TF (OR = 1.13, 95% CI 1.06-1.20, P = 8.97E-05), and DQT (OR = 1.11, 95% CI 1.02-1.21, P = 0.019), but not linked with DD (OR = 1.01, 95% CI = 0.96-1.07, P = 0.61). After adjusting for glycemia, obesity, and lifestyle factors in the MVMR analyses, the causal effects of RA on increased risks of CTS and TF remained significant. Leave-one-out analyses demonstrated that no individual single nucleotide polymorphism (SNP) significantly impacted RA’s overall causal effect estimates on CTS and TF.

CONCLUSIONS: Our results indicate that RA is an independent genetic factor contributing to CTS and TF, but not to DQT or DD. This finding supports recommendations aimed at preventing the occurrence of CTS and TF in patients with RA. However, further high-quality studies are needed to validate this association and to determine its general applicability.

PMID:40537869 | DOI:10.1186/s40001-025-02695-0