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12 pages, 611 KiB  
Article
Cross-Population Analysis of Sjögren’s Syndrome Polygenic Risk Scores and Disease Prevalence: A Pilot Study
by Elisabetta Ferrara, Alessandro D’Albenzio, Biagio Rapone, Giuseppe Balice and Giovanna Murmura
Genes 2025, 16(8), 901; https://doi.org/10.3390/genes16080901 - 28 Jul 2025
Viewed by 235
Abstract
Background: Polygenic risk scores (PRS) have emerged as promising tools for disease risk stratification. However, their validity across different populations remains unclear, particularly for autoimmune diseases, where environmental factors may play crucial roles. Methods: We calculated the population-level PRS for Sjögren’s syndrome using [...] Read more.
Background: Polygenic risk scores (PRS) have emerged as promising tools for disease risk stratification. However, their validity across different populations remains unclear, particularly for autoimmune diseases, where environmental factors may play crucial roles. Methods: We calculated the population-level PRS for Sjögren’s syndrome using seven validated genetic variants (PGS001308) and allele frequency data from the 1000 Genomes Project Phase 3 for five European populations (CEU, TSI, FIN, GBR, and IBS). PRS values were correlated with published prevalence estimates from a systematic literature review. Statistical analyses included Pearson’s correlation and sensitivity analyses. Results: PRS values varied across European populations, ranging from 0.317 in the Spanish population to 0.370 in the Northern European population. A non-significant negative trend was observed between population PRS and Sjögren’s syndrome prevalence (r = −0.407, R2 = 0.166). Italy showed the lowest genetic risk score (TSI: 0.349) but the highest disease prevalence (58.2 per 100,000), while Northern European populations demonstrated a higher PRS but lower prevalence. Conclusions: No significant correlation was found between genetic risk scores and disease prevalence in this limited sample of five European populations. Larger studies are needed to clarify the relationship between polygenic risk and disease prevalence. Full article
(This article belongs to the Section Population and Evolutionary Genetics and Genomics)
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21 pages, 2483 KiB  
Article
Relations of Insulin Resistance, Body Weight, Vitamin D Deficiency, SHBG and Androgen Levels in PCOS Patients
by Zsófi Balogh, Szilvia Csehely, Mónika Orosz, Harjit Pal Bhattoa, Zoárd Tibor Krasznai, Tamás Deli and Attila Jakab
Biomedicines 2025, 13(8), 1803; https://doi.org/10.3390/biomedicines13081803 - 23 Jul 2025
Viewed by 371
Abstract
Background: The most common female endocrinopathy is polycystic ovary syndrome (PCOS), affecting 10–20% of women of reproductive age. It is associated with a wide range of hormonal and biochemical abnormalities and long-term metabolic and cardiovascular risks. It is characterized by infertility due to [...] Read more.
Background: The most common female endocrinopathy is polycystic ovary syndrome (PCOS), affecting 10–20% of women of reproductive age. It is associated with a wide range of hormonal and biochemical abnormalities and long-term metabolic and cardiovascular risks. It is characterized by infertility due to chronic anovulation, hyperandrogenism, polycystic ovarian morphology, and is often associated with insulin resistance (IR) and obesity. Hyperinsulinemia further increases androgen production and reduces sex hormone-binding globulin (SHBG) levels, thereby aggravating symptoms. In addition, vitamin D deficiency is often present in PCOS patients, and increasing evidence suggests that it may also be associated with insulin resistance and hyperandrogenism. Objective: This study aimed to evaluate the relationships between insulin resistance, vitamin D deficiency, body mass index (BMI), and androgen levels in women with PCOS. Method: A cross-sectional study was conducted in which data from 195 women diagnosed with PCOS and not yet receiving therapy at a gynecologic endocrinology unit of a university-based tertiary clinical center, between 2019 and 2024, were analyzed. The parameters recorded were age, body mass index (BMI), 25(OH) vitamin D levels, androgen hormone levels (testosterone, androstenedione), glucose-insulin responses during a 3-point oral glucose tolerance test (OGTT). Statistical analyses, including linear regression, Pearson, and Spearman correlation tests were used to assess associations between variables. Results: The mean age of the patients was 24.8 years (18–42), and the mean BMI was 30.6 kg/m2 (17–51). Vitamin D deficiency was observed in 84.1% of patients, hyperandrogenism in 45.8%, and insulin resistance in 44.5%. A significant inverse correlation was found between BMI and vitamin D levels (r = −0.31, p =< 0.01) indicating that higher BMI is associated with lower vitamin D status. Similarly, BMI also showed a significant negative correlation with SHBG levels (r = –0.45, p < 0.01), suggesting that increasing body weight is linked to reduced SHBG concentrations. In addition, BMI was significantly positively correlated with 2 h insulin levels (r = 0.43, p =< 0.01) and with testosterone levels (r = 0.21, p = 0.01). These findings suggest that increased adiposity intensifies insulin resistance and is linked to both vitamin D deficiency and elevated androgen levels. Moreover, the combination of hyperinsulinemia and low vitamin D further disrupts hormonal balance by promoting ovarian androgen production and decreasing SHBG levels, thereby increasing the bioavailability of testosterone. A significant inverse correlation was found between vitamin D levels and 2 h insulin levels (r = −0.28, p =< 0.01), indicating that lower vitamin D status is associated with increased insulin resistance. Furthermore, 2 h insulin levels showed a significant positive correlation with testosterone levels (r = 0.32, p =< 0.01), suggesting that greater insulin resistance is linked to higher androgen production. Additionally, vitamin D levels were inversely correlated with testosterone (r = −0.18, p = 0.02), demonstrating that a lower vitamin D status may further contribute to the hyperandrogenic environment. Vitamin D levels also showed a significant positive correlation with SHBG concentrations (r = 0.29, p < 0.01), indicating that a higher vitamin D status may be associated with increased SHBG levels. In contrast, 2 h insulin levels were inversely correlated with SHBG (r = −0.43, p < 0.01), reflecting the suppressive effect of hyperinsulinemia on SHBG production. Conclusions: Insulin resistance, BMI, and vitamin D deficiency are closely related to each other and to the severity of PCOS, which is confirmed by the correlations with androgen levels. The revealed relationships draw attention to the special importance of vitamin D supplementation and the correction of carbohydrate metabolism in alleviating the symptoms of the disease and reducing long-term health risks. Full article
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13 pages, 2317 KiB  
Article
Non-Invasive Blood Cortisol Estimation from Sweat Analysis by Kinetic Modeling of Cortisol Transport Dynamics
by Xiaoyu Yin, Sophie Adelaars, Elisabetta Peri, Eduard Pelssers, Jaap den Toonder, Arthur Bouwman, Daan van de Kerkhof and Massimo Mischi
Sensors 2025, 25(15), 4551; https://doi.org/10.3390/s25154551 - 23 Jul 2025
Viewed by 278
Abstract
We present a novel method to estimate blood cortisol concentration from sweat cortisol measurements, incorporating a kinetic model to simulate cortisol transport dynamics. Cortisol dysregulation is observed in conditions like Cushing’s syndrome, characterized by excessive cortisol production, and stress-related disorders, which can lead [...] Read more.
We present a novel method to estimate blood cortisol concentration from sweat cortisol measurements, incorporating a kinetic model to simulate cortisol transport dynamics. Cortisol dysregulation is observed in conditions like Cushing’s syndrome, characterized by excessive cortisol production, and stress-related disorders, which can lead to metabolic disturbances, anxiety, and impaired overall health. Sweat-sensing technology offers a non-invasive and continuous alternative to blood sampling. However, the limited research exploring the sweat–blood cortisol relationship in patients shows a moderate correlation (R<0.6), hindering its clinical application for long-term monitoring. In this paper, we propose a novel kinetic model describing cortisol transport from blood to sweat. The model was validated using data from 44 patients before and after cardiac surgery. A high Pearson correlation coefficient of 0.95 (95% CI: 0.92–0.97) was observed between our model’s estimated and experimental blood cortisol concentrations. Moreover, the method enables personalized estimation of physiological parameters, accurately reflecting patients’ status under varying clinical conditions. The method paves the way for the clinical application of long-term, non-invasive monitoring of cortisol using sweat-sensing technology. Enabling the personalized estimation of physiological parameters could potentially support clinical decision-making, helping doctors diagnose and monitor patients with health conditions involving cortisol dysregulation. Full article
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12 pages, 468 KiB  
Article
The Prevalence of Imposter Syndrome and Its Association with Psychological Distress: A Cross-Sectional Study
by Abdullah Al Lawati, Azzan Al-Wahshi, Tamadhir Al-Mahrouqi, Younis Al-Mufargi, Salman Al Shukaily, Hamood Al Aufi, Ismail Al-Shehhi, Alazhar Al Azri and Hamed Al-Sinawi
Behav. Sci. 2025, 15(7), 986; https://doi.org/10.3390/bs15070986 - 21 Jul 2025
Viewed by 579
Abstract
This research aims to establish the prevalence of imposter syndrome among Sultan Qaboos University (SQU) undergraduate students while assessing its association with depression symptoms and anxiety symptoms. A cross-sectional design recruited 504 undergraduate students selected through stratified random sampling. Data collection employed the [...] Read more.
This research aims to establish the prevalence of imposter syndrome among Sultan Qaboos University (SQU) undergraduate students while assessing its association with depression symptoms and anxiety symptoms. A cross-sectional design recruited 504 undergraduate students selected through stratified random sampling. Data collection employed the Clance Imposter Phenomenon Scale (CIPS), the Patient Health Questionnaire-9 (PHQ-9), and the Generalized Anxiety Disorder-7 (GAD-7). Data analysis included Pearson’s correlation, chi-square tests, and logistic regression analyses. In total, 56% of participants had imposter syndrome. The CIPS scores showed a moderate relationship with depression (r = 0.486, p < 0.001) and anxiety (r = 0.472, p < 0.001). Students who experienced imposter syndrome showed a higher probability of developing depressive symptoms (χ2 = 45.63, p < 0.001, OR = 3.49) and anxiety symptoms (χ2 = 32.96, p < 0.001, OR = 2.86). The logistic regression analysis showed that depression (B = 0.096, p < 0.001) and anxiety (B = 0.075, p = 0.003) acted as significant predictors for imposter syndrome. This study reveals a strong link between imposterism, depression, and anxiety among students. This highlights the need for university counseling programs to address imposter feelings and the role of clinical psychology in managing this phenomenon in academic and clinical settings. Full article
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18 pages, 644 KiB  
Article
Atrial Fibrillation Risk Scores as Potential Predictors of Significant Coronary Artery Disease in Chronic Coronary Syndrome: A Novel Diagnostic Approach
by Alexandru-Florinel Oancea, Paula Cristina Morariu, Maria Godun, Stefan Dorin Dobreanu, Miron Mihnea, Diana Gabriela Iosep, Ana Maria Buburuz, Ovidiu Mitu, Alexandru Burlacu, Diana-Elena Floria, Raluca Mitea, Andrei Vâță, Daniela Maria Tanase, Antoniu Octavian Petris, Irina-Iuliana Costache-Enache and Mariana Floria
Life 2025, 15(7), 1134; https://doi.org/10.3390/life15071134 - 18 Jul 2025
Viewed by 359
Abstract
Chronic coronary syndrome (CCS) and atrial fibrillation (AF) are prevalent cardiovascular conditions that share numerous risk factors and pathophysiological mechanisms. While clinical scores commonly used in AF—such as CHA2DS2VA (which includes congestive heart failure, hypertension, age ≥ 75, diabetes, [...] Read more.
Chronic coronary syndrome (CCS) and atrial fibrillation (AF) are prevalent cardiovascular conditions that share numerous risk factors and pathophysiological mechanisms. While clinical scores commonly used in AF—such as CHA2DS2VA (which includes congestive heart failure, hypertension, age ≥ 75, diabetes, stroke/TIA, vascular disease, and age 65–74), HAS-BLED (which incorporates hypertension, abnormal renal/liver function, stroke, bleeding history, labile INR, elderly age, and drug/alcohol use), and C2HEST (incorporating coronary artery disease, COPD, hypertension, elderly age ≥ 75, systolic heart failure, and thyroid disease)—are traditionally applied to rhythm or bleeding risk prediction, their value in estimating the angiographic severity of coronary artery disease (CAD) remains underexplored. We conducted a prospective, single-center study including 131 patients with suspected stable CAD referred for coronary angiography, stratified according to coronary angiographic findings into two groups: significant coronary stenosis (S-CCS) and non-significant coronary stenosis (N-CCS). At admission, AF-related scores (CHA2DS2, CHA2DS2VA, CHA2DS2VA-HSF, CHA2DS2VA-RAF, CHA2DS2VA-LAF, HAS-BLED, C2HEST, and HATCH) were calculated. CAD severity was subsequently assessed using the SYNTAX and Gensini scores. Statistical comparisons and Pearson correlation analyses were performed to evaluate the association between clinical risk scores and angiographic findings. Patients in the S-CCS group had significantly higher scores in CHA2DS2VA (4.09 ± 1.656 vs. 3.20 ± 1.338, p = 0.002), HAS-BLED (1.98 ± 0.760 vs. 1.36 ± 0.835, p < 0.001), CHA2DS2VA-HSF (6.00 ± 1.854 vs. 5.26 ± 1.712, p = 0.021), and C2HEST (3.49 ± 1.501 vs. 2.55 ± 1.279, p < 0.001). Multivariate logistic regression identified HAS-BLED and C2HEST as independent predictors of significant coronary lesions. A threshold value of HAS-BLED ≥ 1.5 and C2HEST ≥ 3.5 demonstrated moderate discriminative ability (AUC = 0.694 and 0.682, respectively), with acceptable sensitivity and specificity. These scores also demonstrated moderate to strong correlations with both Gensini and SYNTAX scores. AF-related clinical scores, especially HAS-BLED and C2HEST, may serve as practical and accessible tools for early CAD risk stratification in patients with suspected CCS. Their application in clinical practice may serve as supplementary triage tools to help prioritize patients for further diagnostic evaluation, but they are not intended to replace standard imaging or testing. Full article
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13 pages, 851 KiB  
Article
Performance Evaluation of a Fully Automated Molecular Diagnostic System for Multiplex Detection of SARS-CoV-2, Influenza A/B Viruses, and Respiratory Syncytial Virus
by James G. Komu, Dulamjav Jamsransuren, Sachiko Matsuda, Haruko Ogawa and Yohei Takeda
Diagnostics 2025, 15(14), 1791; https://doi.org/10.3390/diagnostics15141791 - 16 Jul 2025
Viewed by 355
Abstract
Background/Objectives: Concurrent outbreaks of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), influenza A and B viruses (IAV/IBV), and respiratory syncytial virus (RSV) necessitate rapid and precise differential laboratory diagnostic methods. This study aimed to evaluate the multiplex molecular diagnostic performance of the [...] Read more.
Background/Objectives: Concurrent outbreaks of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), influenza A and B viruses (IAV/IBV), and respiratory syncytial virus (RSV) necessitate rapid and precise differential laboratory diagnostic methods. This study aimed to evaluate the multiplex molecular diagnostic performance of the geneLEAD VIII system (Precision System Science Co., Ltd., Matsudo, Japan), a fully automated sample-to-result precision instrument, in conjunction with the VIASURE SARS-CoV-2, Flu & RSV Real Time PCR Detection Kit (CerTest Biotec, S.L., Zaragoza, Spain). Methods: The specific detection capabilities of SARS-CoV-2, IAV/IBV, and RSV genes were evaluated using virus-spiked saliva and nasal swab samples. Using saliva samples, the viral titer detection limits of geneLEAD/VIASURE and manual referent singleplex RT-qPCR assays were compared. The performance of geneLEAD/VIASURE in analyzing single- and multiple-infection models was scrutinized. The concordance between the geneLEAD/VIASURE and the manual assays was assessed. Results: The geneLEAD/VIASURE successfully detected all the virus genes in the saliva and nasal swab samples despite some differences in the Ct values. The viral titer detection limits in the saliva samples for SARS-CoV-2, IAV, IBV, and RSV using geneLEAD/VIASURE were 100, ≤10−2, 100, and 102 TCID50/mL, respectively, compared to ≤10−1, ≤100, ≤100, and ≤104 TCID50/mL, respectively, in the manual assays. geneLEAD/VIASURE yielded similar Ct values in the single- and multiple-infection models, with some exceptions noted in the triple-infection models when low titers of RSV were spiked with high titers of the other viruses. The concordance between geneLEAD/VIASURE and the manual assays was high, with Pearson’s R2 values of 0.90, 0.85, 0.92, and 0.95 for SARS-CoV-2, IAV, IBV, and RSV, respectively. Conclusions: geneLEAD/VIASURE is a reliable diagnostic tool for detecting SARS-CoV-2, IAV/IBV, and RSV in single- and multiple-infection scenarios. Full article
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10 pages, 472 KiB  
Article
[18F]FDG PET-CT Imaging of the Low Back in Persistent Spinal Pain Syndrome Type 2: A Pilot Study Towards Improved Diagnosis
by Lara S. Burmeister, Richard L. Witkam, Kris C. P. Vissers, Martin Gotthardt and Dylan J. H. A. Henssen
Brain Sci. 2025, 15(7), 724; https://doi.org/10.3390/brainsci15070724 - 7 Jul 2025
Viewed by 421
Abstract
Background/Objectives: Diagnosis of Persistent Spinal Pain Syndrome Type 2 (PSPS-T2) currently lacks objective biomarkers. Therefore, this retrospective study aimed to investigate differences in glucose metabolism in the axial musculoskeletal system in PSPS-T2 patients by means of [18F]FDG PET-CT imaging. Methods [...] Read more.
Background/Objectives: Diagnosis of Persistent Spinal Pain Syndrome Type 2 (PSPS-T2) currently lacks objective biomarkers. Therefore, this retrospective study aimed to investigate differences in glucose metabolism in the axial musculoskeletal system in PSPS-T2 patients by means of [18F]FDG PET-CT imaging. Methods: Nine PSPS-T2 patients (five females, four males; mean age of 53 ± 4.82 years) and nine age- and gender-matched healthy controls (five females, four males; mean age of 53 ± 3.91 years) were included. For each participant, 24 regions of interest (ROIs) were manually drawn, including areas of the vertebral endplates, the intervertebral discs, and the psoas muscles. For each ROI, the mean standardized uptake values (SUVs) were assessed. Group differences were evaluated using repeated measures ANOVA with Bonferroni-adjusted post-hoc pairwise comparisons. Additionally, Pearson correlation analyses examined associations between SUVmean values and the Numerical Rating Scale (NRS) pain scores. Results: Results demonstrated significantly higher SUVmean values in healthy controls compared to PSPS-T2 patients, particularly at the superior endplates of L4 and S1, the intervertebral discs at L4-L5 and L5-S1, and the posterior endplates of L4 and L5. Although PSPS-T2 patients exhibited higher SUVmean values than controls in the psoas muscle, these differences were not statistically significant. Additionally, no significant correlations were found between SUVmean values and NRS pain scores, suggesting that metabolic activity alone does not directly reflect pain severity. Conclusions: Despite the limited sample size of this pilot study, the metabolic fingerprint of the axial musculoskeletal system was shown to be distinctly different in PSPS-T2 patients compared to healthy controls. This could lead to an improved understanding of PSPS-T2 pathophysiology and might open new doors for better diagnosis and treatment strategies. Full article
(This article belongs to the Section Neurotechnology and Neuroimaging)
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14 pages, 2140 KiB  
Article
Comprehensive Clinical, Serological, and Molecular Biomarker Profiling of Primary Sjögren’s Syndrome: A Single-Center Cohort Study in Northeastern Romania
by Alexandru Lodba, Codrina Ancuta, Diana Tatarciuc, Magda Ecaterina Antohe, Ana Maria Fatu, Luciana-Oana Lodba and Cristina Iordache
Int. J. Mol. Sci. 2025, 26(13), 6327; https://doi.org/10.3390/ijms26136327 - 30 Jun 2025
Viewed by 315
Abstract
Primary Sjögren’s syndrome (pSS) exhibits considerable clinical and immunological heterogeneity, complicating personalized management. We aimed to delineate the demographic, functional, serological, histopathological, and therapeutic features of a Romanian pSS cohort and to identify biomarker–treatment correlations that could inform patient-oriented strategies. Thirty-two patients meeting [...] Read more.
Primary Sjögren’s syndrome (pSS) exhibits considerable clinical and immunological heterogeneity, complicating personalized management. We aimed to delineate the demographic, functional, serological, histopathological, and therapeutic features of a Romanian pSS cohort and to identify biomarker–treatment correlations that could inform patient-oriented strategies. Thirty-two patients meeting the 2016 ACR/EULAR classification criteria for pSS were retrospectively analyzed. Data collected included demographics, autoantibody profiles (Anti-Ro/SSA, Anti-La/SSB, ANA, RF, Anti-CCP), immunoglobulin levels, complement consumption (C3/C4), minor salivary gland biopsy (focus score), salivary flow tests, and systemic inflammation markers (CRP). Pearson correlation matrices were constructed to explore the associations between serological markers and prescribed therapies. The cohort was predominantly female (87.5%) with a mean age of 52.8 ± 9.9 years. Seropositivity rates were 50% for Anti-Ro/SSA, 77% for Anti-La/SSB, and 40% for ANA. Clinically significant glandular dysfunction was evident in 65% of patients (unstimulated flow ≤ 0.1 mL/min), and all biopsies demonstrated focus scores > 1. Methotrexate use correlated strongly with Anti-Ro/SSA and Anti-La/SSB positivity (p ≤ 0.05), indicating its targeted application in seropositive sub-phenotypes. Conclusion: These findings underscore the immunologic and clinical diversity of pSS and support a biomarker-driven, multidisciplinary framework for personalized treatment. Larger prospective and multicenter studies are warranted to validate these correlations and to refine precision medicine approaches in pSS. Full article
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12 pages, 796 KiB  
Article
Enhancing Predictive Tools for Skeletal Growth and Craniofacial Morphology in Syndromic Craniosynostosis: A Focus on Cranial Base Variables
by Lantian Zheng, Norli Anida Abdullah, Norlisah Mohd Ramli, Nur Anisah Mohamed, Mohamad Norikmal Fazli Hisam and Firdaus Hariri
Diagnostics 2025, 15(13), 1640; https://doi.org/10.3390/diagnostics15131640 - 27 Jun 2025
Viewed by 365
Abstract
Background/Objectives: Patients with syndromic craniosynostosis (SC) pose a significant challenge for post-operational outcomes due to the variability in craniofacial deformities and gain-of-function characteristics. This study aims to develop validated predictive tools using stable cranial base variables to predict changes in the midfacial [...] Read more.
Background/Objectives: Patients with syndromic craniosynostosis (SC) pose a significant challenge for post-operational outcomes due to the variability in craniofacial deformities and gain-of-function characteristics. This study aims to develop validated predictive tools using stable cranial base variables to predict changes in the midfacial region and explore the craniofacial morphology among patients with SC. Methods: This study involved 17 SC patients under 12 years old, 17 age-matched controls for morphological analysis, and 21 normal children for developing craniofacial predictive models. A stable cranial base and changeable midfacial variables were analyzed using the Mann–Whitney U test. Pearson correlation identified linear relationships between the midface and cranial base variables. Multicollinearity was checked before fitting the data with multiple linear regression for growth prediction. Model adequacy was confirmed and the 3-fold cross-validation ensured results reliability. Results: Patients with SC exhibited a shortened cranial base, particularly in the middle cranial fossa (S-SO), and a sharper N-S-SO and N-SO-BA angle, indicating a downward rotation and kyphosis. The midface length (ANS-PNS) and zygomatic length (ZMs-ZTi) were significantly reduced, while the midface width (ZFL-ZFR) was increased. Regression models for the midface length, width, and zygomatic length were given as follows: ANS-PNS = 23.976 + 0.139 S-N + 0.545 SO-BA − 0.120 N-S-BA + 0.078 S-SO-BA + 0.051 age (R2 = 0.978, RMSE = 1.058); ZFL-ZFR = −15.618 + 0.666 S-N + 0.241 N-S-BA + 0.155 S-SO-BA + 0.121 age (R2 = 0.903, RMSE = 3.158); and ZMs-ZTi = −14.403 + 0.765 SO-BA + 0.266 N-S-BA + 0.111 age (R2 = 0.878, RMSE = 3.720), respectively. Conclusions: The proposed models have potential applications for midfacial growth estimation in children with SC. Full article
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13 pages, 1774 KiB  
Article
The Triglyceride–Glucose Index, a Marker of Insulin Resistance, Is Associated with the Myocardial Performance Index in Asymptomatic Subjects
by Necip Nas, Muzaffer Aslan, Semih Saglik and Hafize Uzun
Medicina 2025, 61(6), 987; https://doi.org/10.3390/medicina61060987 - 27 May 2025
Viewed by 553
Abstract
Background and Objectives: The myocardial performance index (MPI) is a diagnostic tool that assesses both the systolic and diastolic function of ventricles. The MPI provides a comprehensive view of the overall efficiency of the heart’s pumping ability, making it a valuable tool [...] Read more.
Background and Objectives: The myocardial performance index (MPI) is a diagnostic tool that assesses both the systolic and diastolic function of ventricles. The MPI provides a comprehensive view of the overall efficiency of the heart’s pumping ability, making it a valuable tool for detecting early signs of heart dysfunction, even in the absence of overt symptoms. In this regard, we aimed to explore the relationship between the triglyceride–glucose (TyG) index and subclinical heart failure (HF), as well as its correlation with the MPI, in asymptomatic patients visiting a routine cardiology outpatient clinic. The study specifically excluded individuals with known diabetes, hypertension, and HF, focusing instead on those who had undergone 12 h fasting blood glucose (FBG) and triglyceride (TG) tests. Materials and Methods: The study included 125 patients with FBG, TG, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C) data after the exclusion criteria were applied. Results: When asymptomatic patients were categorized as MPI normal or MPI (+) subjects, significant differences were found between the groups in terms of body mass index (BMI), metabolic syndrome (MetS) components, and serum TG values. Pearson correlation analysis revealed a significant and positive correlation between the MPI and TyG index (r = 0.358, p < 0.001). Regression analysis was used to determine the effective parameters in subclinical left ventricular dysfunction (SCLVD). In univariate regression analysis, obesity, the presence of MetS, serum TG, and the TyG index were identified as risk factors. In multivariate regression analysis, the TyG index was found to be the independent risk factor. Conclusions: The positive association found between the MPI and TyG index suggests a link with metabolic disorders and myocardial performance. Obesity, the presence of MetS, serum TG, and the TyG index were identified as risk factors for SCLVD in asymptomatic patients. Notably, the TyG index was identified as an independent risk factor for SCLVD, highlighting its potential role in the early identification and risk stratification of individuals at risk for cardiac dysfunction. These findings suggest that monitoring the TyG index could provide valuable insights into subclinical heart dysfunction, particularly in patients with metabolic abnormalities. Full article
(This article belongs to the Section Cardiology)
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12 pages, 232 KiB  
Article
Diagnosis and Monitoring of Metabolic Dysfunction Associated with Fatty Liver Disease in Primary Care Patients with Risk Factors—EsteatoGal Study
by Nerea Sánchez-Varela, Sergio Cinza-Sanjurjo, Tatiana Danif-Ferreira, Liseth I. Medina Araujo, Diego G. Mosteiro Miguéns, Daniel Rey-Aldana, Manuel Portela-Romero and on behalf of the EsteatoGal Researchers
J. Clin. Med. 2025, 14(9), 3089; https://doi.org/10.3390/jcm14093089 - 29 Apr 2025
Viewed by 765
Abstract
Objective: The objective of this study was to calculate the epidemiological impact of metabolic dysfunction associated with fatty liver disease (MAFLD) and hepatic fibrosis in primary care (PC). Secondarily, we assessed the correlation between serological markers (FIB-4, ELF test), abdominal ultrasound, and [...] Read more.
Objective: The objective of this study was to calculate the epidemiological impact of metabolic dysfunction associated with fatty liver disease (MAFLD) and hepatic fibrosis in primary care (PC). Secondarily, we assessed the correlation between serological markers (FIB-4, ELF test), abdominal ultrasound, and transient elastography in the early detection of MAFLD. Methods: An observational prospective study was designed to determine the prevalence of MAFLD and to assess the correlation between complementary tests. Patients were recruited from five health centres. Eligible participants were adults aged between 18 and 70 years with at least one metabolic risk factor, including being overweight (BMI 25–29.9 kg/m2) or obese (BMI > 30 kg/m2), or diagnosed with type 2 diabetes mellitus (T2DM), dyslipidemia, or metabolic syndrome. The prevalence of MAFLD was calculated. Correlations between diagnostic tests were evaluated using Pearson’s correlation coefficient. Results: A total of 98 patients was included. Using CAP (controlled attenuation parameter) measurements, the prevalence of MAFLD was found to be 67.7%, and the prevalence of hepatic fibrosis was 6.5%. The correlation between conventional ultrasound and CAP from FibroScan® for the diagnosis of MAFLD was low and not statistically significant (0.160 [95% CI: −0.100; 0.400], p = 0.226). In contrast, the diagnosis of hepatic fibrosis using FibroScan® in PC showed a high correlation with diagnoses performed in gastroenterology department (0.942 [95% CI: 0.844; 0.979], p < 0.001). The correlation with biochemical markers was low and not statistically significant for both FIB-4 (0.125 [95% CI: −0.129; 0.363], p = 0.334) and the ELF test (0.159 [95% CI: −0.111; 0.407], p = 0.246). Conclusions: Two out of three patients with metabolic risk factors were diagnosed with MAFLD, while hepatic fibrosis diagnoses were uncommon. These results reinforce the validity of using FibroScan® in PC. Full article
(This article belongs to the Special Issue Metabolic Syndrome and Its Burden on Global Health)
13 pages, 580 KiB  
Article
Molecular Detection and Clinical Impact of Helicobacter pylori Virulence Genes in Gastric Diseases: A Study in Arequipa, Peru
by Yuma Ita-Balta, Alice Zegarra-Adanaque, Johany Sanchez-Guillen, Miguel Farfán-Delgado, Carlos Ortiz-Castro, Alexis Germán Murillo Carrasco, Alejandro Miranda Pinto and Cecilia Manrique-Sam
Biomedicines 2025, 13(4), 914; https://doi.org/10.3390/biomedicines13040914 - 9 Apr 2025
Cited by 1 | Viewed by 1263
Abstract
Background: Helicobacter pylori is a globally prevalent pathogen and a major contributor to gastric diseases, including chronic gastritis, peptic ulcer disease, and gastric cancer. This study investigates the prevalence, distribution, and clinical relevance of its key virulence genes, vacA and cagA, [...] Read more.
Background: Helicobacter pylori is a globally prevalent pathogen and a major contributor to gastric diseases, including chronic gastritis, peptic ulcer disease, and gastric cancer. This study investigates the prevalence, distribution, and clinical relevance of its key virulence genes, vacA and cagA, in a Peruvian patient cohort. Materials and Methods: Fifty-one gastric biopsies were collected from patients with a presumptive diagnosis of H. pylori-induced gastritis at Hospital Carlos Alberto Seguín Escobedo in Arequipa, Peru, in March 2024. Two biopsies per patient—one from the antrum and one from the gastric body—were obtained during endoscopy. DNA extraction was performed using the Quick-DNA Fungal/Bacterial Kit (Zymo Research, USA). Molecular identification of H. pylori was conducted via PCR targeting the glmM gene, while the vacA and cagA virulence genes were detected using specific primers. Statistical analyses, including Pearson’s chi-square and Mann–Whitney tests, were applied to assess associations between virulence gene presence and clinical or histopathological variables. Results: Among the gastric biopsies, the vacA gene was detected in 37.3% of samples, while cagA was present in 17.6%. Statistical analysis revealed significant associations between vacA and specific clinical and endoscopic features, including erythematous gastropathy, nodular gastritis, and emetic syndrome, suggesting its localized role in disease pathogenesis. Additionally, the presence of cagA was significantly linked to moderate inflammatory intensity in gastric body biopsies, indicating its association with more severe histopathological outcomes. Chronic gastritis was the most common histopathological finding, with moderate intensity correlating strongly with the presence of virulence genes. Conclusions: These findings highlight substantial regional variability in the distribution and pathogenicity of H. pylori genotypes. This study underscores the importance of incorporating molecular diagnostics into routine clinical practice to improve diagnostic accuracy and inform region-specific therapeutic strategies. This is particularly crucial in endemic regions like Peru, where unique environmental and genetic factors may influence infection dynamics and disease outcomes. Full article
(This article belongs to the Special Issue Cellular and Molecular Mechanisms in Gastrointestinal Tract Disease)
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12 pages, 236 KiB  
Article
Health-Related Quality of Life of Individuals with Physical Disabilities in Childhood
by Chris Church, Sana Patil, Stephanie Butler, Freeman Miller, Jose J. Salazar-Torres, Nancy Lennon, M. Wade Shrader, Maureen Donohoe, Faithe Kalisperis, W. G. Stuart Mackenzie and Louise Reid Nichols
Children 2025, 12(3), 365; https://doi.org/10.3390/children12030365 - 15 Mar 2025
Cited by 1 | Viewed by 915
Abstract
Background: The use of patient-reported outcomes is essential to understand and manage health-related quality of life (HRQOL) in youth with lifelong disabilities. This study evaluated HRQOL in youth with physical disorders and examined its relationship with mobility. Methods: We conducted an IRB-approved [...] Read more.
Background: The use of patient-reported outcomes is essential to understand and manage health-related quality of life (HRQOL) in youth with lifelong disabilities. This study evaluated HRQOL in youth with physical disorders and examined its relationship with mobility. Methods: We conducted an IRB-approved retrospective study in which we administered the parent-reported Pediatric Outcomes Data Collection Instrument (PODCI) and Gross Motor Function Measure section D (GMFM-D) to ambulatory youth aged 2–18 years with cerebral palsy (CP; Gross Motor Function Classification System II; n = 258), arthrogryposis (n = 138), achondroplasia (n = 102), and Morquio syndrome (n = 52) during clinical visits to a gait lab. The PODCI has two validated versions, child and adolescent, that assess perceptions about mobility, happiness, and pain. Differences in HRQOL between diagnostic groups, between age groups, and compared with non-disabled youth were examined using non-parametric tests. The relationship between GMFM-D and PODCI scores was analyzed with Pearson’s correlations. Results: Both age cohorts within all diagnosis groups demonstrated higher pain and lower mobility compared with non-disabled youth (p < 0.015). Happiness was lower for both age groups with CP and arthrogryposis, and for the child group with Morquio syndrome compared with non-disabled youth (p < 0.002). In diagnostic groups in both age spans, Global Function was higher (p < 0.0001) for those with achondroplasia compared with other groups. Despite functional differences, there were no significant differences between diagnostic groups in pain scores (p > 0.10). Happiness was lower in the group with CP compared with that with achondroplasia (p = 0.01). GMFM-D was related to PODCI mobility scores for all diagnoses (r = 0.31 to 0.79, p < 0.03) but was not correlated with happiness (r = −0.16 to 0.092; p > 0.14); GMFM-D and PODCI pain scores were associated only for the child group with achondroplasia (r = 0.355; p < 0.001). Conclusions: Significant limitations in HRQOL are present in youth with physical disabilities. Pain levels were higher than those of non-disabled youth, but pain was not related to lower motor function. Happiness was not related to gross motor function, suggesting the need to examine other factors when mental health concerns are present in youth with disabilities. Full article
16 pages, 458 KiB  
Article
Translation and Validation of the Chinese Version of the Rapid Geriatric Assessment (C-RGA): A Screening Tool for Geriatric Syndromes in Nursing Home Residents
by Jia Liu, Azera Hasra Ismail, Roszita Ibrahim, Yuezhi Zhu and Nor Haty Hassan
Nutrients 2025, 17(5), 873; https://doi.org/10.3390/nu17050873 - 28 Feb 2025
Viewed by 1077
Abstract
Background: Frailty, sarcopenia, nutritional risk, and cognitive impairment are prevalent geriatric syndromes that adversely affect health outcomes in older adults, underscoring the need for an effective screen tool to enable early detection and timely intervention. Methods: This study employed a cross-sectional [...] Read more.
Background: Frailty, sarcopenia, nutritional risk, and cognitive impairment are prevalent geriatric syndromes that adversely affect health outcomes in older adults, underscoring the need for an effective screen tool to enable early detection and timely intervention. Methods: This study employed a cross-sectional validation design and translated, culturally adapted, and validated the Chinese version of the Rapid Geriatric Assessment (C-RGA) among 416 nursing home residents. The C-RGA consists of four subscales: the simple frail questionnaire screening tool (FRAIL), SARC-F for sarcopenia (SARC-F), the Simplified Nutritional Assessment Questionnaire (SNAQ), and the Rapid Cognitive Screen (RCS). Results: The C-RGA demonstrated high content validity (S-CVI/Ave = 0.982) and strong internal consistency (Cronbach’s α = 0.839). Factor analysis confirmed its four-domain structure, accounting for 61.497% of the variance. Model fit indices demonstrated good construct validity (χ2/df = 1.122, RMSEA = 0.024, GFI, AGFI, and CFI > 0.90), supporting the robustness of the assessment tool. Pearson correlation analysis revealed a strong association between FRAIL and SARC-F with SNAQ (r = −0.671, 95% CI: [−0.742, −0.600], p < 0.01) and a moderate correlation with RCS (r = −0.426, 95% CI: [−0.513, −0.339], p < 0.01), underscoring the interplay among nutritional deficits, muscle weakness, and cognitive impairment. Conclusions: The C-RGA demonstrates strong psychometric properties, supporting its potential use as a screening tool for the early detection of frailty, sarcopenia, nutritional risk, and cognitive impairment among nursing home residents, enabling timely and targeted interventions. Future research should further assess its applicability across diverse healthcare settings to enhance its generalizability and clinical utility. Full article
(This article belongs to the Special Issue Nutritional Risk in Older Adults in Different Healthcare Settings)
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18 pages, 6011 KiB  
Article
Insights into the Correlation and Immune Crosstalk Between COVID-19 and Sjögren’s Syndrome Keratoconjunctivitis Sicca via Weighted Gene Coexpression Network Analysis and Machine Learning
by Yaqi Cheng, Liang Zhao, Huan Yu, Jiayi Lin, Meng Li, Huini Zhang, Haocheng Zhu, Huanhuan Cheng, Qunai Huang, Yingjie Liu, Tao Wang and Shiqi Ling
Biomedicines 2025, 13(3), 579; https://doi.org/10.3390/biomedicines13030579 - 25 Feb 2025
Cited by 1 | Viewed by 860
Abstract
Background: Although autoimmune complications of COVID-19 have aroused concerns, there is no consensus on its ocular complications. Sjögren’s syndrome is an autoimmune disease accompanied by the ocular abnormality keratoconjunctivitis sicca (SS-KCS), which may be influenced by COVID-19. Thereby, we explored the possible interaction [...] Read more.
Background: Although autoimmune complications of COVID-19 have aroused concerns, there is no consensus on its ocular complications. Sjögren’s syndrome is an autoimmune disease accompanied by the ocular abnormality keratoconjunctivitis sicca (SS-KCS), which may be influenced by COVID-19. Thereby, we explored the possible interaction between COVID-19 and SS-KCS, and we aimed to elucidate the potential correlated mechanism. Methods: Differentially expressed genes (DEGs) in COVID-19 and SS-KCS transcriptome data obtained from the gene expression omnibus database were identified, and COVID-19-related genes were screened using weighted gene coexpression network analysis. Common genes were verified using four machine-learning diagnostic predictors. The clinical relationship between the two common hub genes of COVID-19 was analyzed. Finally, the immune cell types infiltrating the microenvironment in the COVID-19 dataset were analyzed using CIBERSORT, and the interrelation between key genes and differentially infiltrating immune cells was verified via Pearson correlation. Results: Ten potential primary hub mRNAs were screened by intersecting the COVID-19 DEGs, SS-KCS DEGs, and WGCNA genes. After a multifaceted evaluation using four mainstream machine-learning diagnostic predictors, the most accurate and sensitive random forest model identified CR1 and TAP2 as the common hub genes of COVID-19 and SS-KCS. Together with the clinical information on COVID-19, the expression of CR1 and TAP2 was significantly correlated with the status and severity of COVID-19. CR1 and TAP2 were significantly positively correlated with M0 and M2 macrophages, neutrophils, and CD4+ memory resting T cells and negatively correlated with activated NK cells, monocytes, and CD8+ T cells. Conclusions: We validated the hub genes associated with both COVID-19 and SS-KCS, and we investigated the immune mechanisms underlying their interaction, which may help in the early prediction, identification, diagnosis, and management of SARS-CoV-2 infection-related SS-KCS syndrome or many other immune-related complications in the long COVID period. Full article
(This article belongs to the Section Immunology and Immunotherapy)
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