Search Results (782)

Background/Objectives: Multiple sclerosis (MS) is a chronic neurodegenerative disorder mainly affecting young adults and can greatly impair quality of life (QoL). Among its often overlooked but significant symptoms are bowel dysfunctions (BD), such as constipation and fecal incontinence, which can impact physical, emotional, and social well-being, especially in younger patients. This study aims to investigate the impact of BD on the QoL in young adults diagnosed with relapsing-remitting MS (RRMS) and mild disability. Methods: This retrospective cross-sectional study examined the effect of BD on QoL in 110 young adults with RRMS and mild disability (EDSS ≤ 3.5). Bowel symptoms were assessed using the Wexner Incontinence and Constipation Scales, while QoL was measured with the MSQoL-54 questionnaire. Statistical analyses were performed to examine correlations between BD severity and QoL domains. Results: Our findings showed significant correlations between the severity of intestinal symptoms and different domains of QoL, like physical functioning, emotional well-being, and social functioning. Abdominal pain and liquid fecal incontinence were especially linked to lower mental and physical health scores. Subgroup analyses also indicated gender-specific vulnerabilities, with women showing distinct effects on social and emotional dimensions. Conclusion: BD represents an important burden on bowel dysfunctions for young people with MS, deeply impacting various dimensions of QoL. This underscores an urgent need for an integrated, multidisciplinary care model that tackles physical symptoms but also psychological and social challenges. A holistic clinical strategy is vital to improving the overall well-being of this population. Full article

Background: Insulin resistance (IR) is a key pathogenic mechanism underlying numerous cardiometabolic disorders. While sociodemographic and lifestyle determinants of IR are well-established, their association with health-related quality of life (HRQoL) remains understudied. This study explores the relationship between IR risk, as measured by TyG, METS-IR, and SPISE-IR indices, and HRQoL in a large cohort of Spanish workers. Methods: This cross-sectional study included 100,014 Spanish workers aged 18–69 years evaluated between January 2021 and December 2023. Exclusion criteria included incomplete clinical, laboratory, or questionnaire data. IR was assessed using TyG, METS-IR, and SPISE-IR indices. HRQoL was measured using the SF-12 questionnaire. Sociodemographic factors, physical activity (IPAQ), dietary habits (MEDAS-14), and social class (based on CNAE-11 and Spanish Society of Epidemiology criteria) were also evaluated. Statistical analysis was conducted using SPSS v29.0. Results: Higher IR risk was consistently associated with older age, male sex, lower social class, current smoking, low adherence to the Mediterranean diet, and physical inactivity. Lower HRQoL scores (both physical and mental components) were significantly associated with higher IR indices, particularly with METS-IR and SPISE-IR. These associations persisted after adjusting for sociodemographic and behavioral covariates. Conclusions: This study demonstrates a robust association between insulin resistance risk and diminished health-related quality of life. The integration of validated IR indices and subjective health perception tools such as the SF-12 may enhance early identification of at-risk individuals in occupational health settings. Full article

Background: Facial nerve palsy is a relatively common complication following open rigid internal fixation (ORIF) of a mandibular condylar fracture. The aim of this study was to investigate the risk factors that influence post-operative facial nerve function and the recovery process. Methods: A retrospective study was conducted based on the medical records of 329 patients who underwent ORIF treatment for condyle fractures, with the follow-up period being 24 months long. Results: During the initial post-operative examination, 50.45% of patients exhibited some signs of facial nerve dysfunction, ranging from slight to severe, and 48.63% of patients presented transient palsy, while only 1.82% presented permanent facial nerve palsy. Female patients were found to be more susceptible to post-operative facial nerve palsy. Patients with multiple mandibular fractures and bilateral condyle fractures had a worse prognosis. The preauricular approach and its modifications were identified as posing the greatest risk to the facial nerve. The safest approach was the retromandibular approach. Patients treated for injuries resulting from traffic accidents or falls had a worse prognosis than those treated for assault injuries. Conclusions: Post-operative facial nerve palsy following ORIF of the mandibular condyle is, in most cases, transient and can be effectively treated. However, it is important to choose the safest possible surgical approach. The safer approach, the retromandibular approach, should be considered when possible. Full article

Background: Psychological stress is increasingly recognized as a potential modifier of periodontal disease through both behavioral and biological mechanisms. Cortisol, a key stress hormone, exerts complex immunomodulatory effects and may influence periodontal inflammation and tissue breakdown. This study aimed to compare salivary levels of cortisol, interleukin-1β, and interleukin-6 in patients with varying periodontitis severity and examine their associations with clinical periodontal parameters. Methods: A total of 67 patients diagnosed with periodontitis were classified according to the 2017 World Workshop Classification into Stage I/II vs. Stage III/IV and Grade B vs. Grade C. Unstimulated saliva samples were collected and analyzed for cortisol using electrochemiluminescence immunoassay, and for IL-1β and IL-6 using ELISA. Statistical analyses included Mann-Whitney U test, Spearman’s correlations, and multivariate regression. Results: Median salivary cortisol levels were significantly higher in Stage III/IV (11.90 nmol/L) than in Stage I/II (7.64 nmol/L; p = 0.014) and in Grade C (10.60 nmol/L) vs. Grade B (7.70 nmol/L; p = 0.019). In multivariate analysis, cortisol independently predicted both Stage III/IV (OR = 1.23, p = 0.007) and Grade C (OR = 1.24, p = 0.026) periodontitis. ROC analysis showed that salivary cortisol had moderate diagnostic performance for Stage III/IV periodontitis (AUC = 0.68, cut-off 11.57 nmol/L) and Grade C (AUC = 0.67, cut-off 9.76 nmol/L). Cortisol showed significant positive correlations with clinical markers of disease severity and with IL-1β (r = 0.399, p = 0.001) and IL-6 (r = 0.424, p < 0.001). Conclusions: Salivary cortisol is a promising non-invasive biomarker reflecting both stress-related physiological burden and clinical severity in periodontitis. Cortisol measurement may represent a valuable addition to multifactorial assessments and risk stratification in periodontitis, pending further validation in longitudinal studies. Full article

Background: Nonadherence to antihypertensive therapy affects nearly half of treated patients worldwide, and persistence often falls below 60% within the first year, contributing substantially to uncontrolled blood pressure and cardiovascular morbidity. Adherence and persistence to antihypertensive therapy among primary care patients in Mureș County, Romania, were assessed using validated measures, and modifiable risk factors for targeted interventions were identified. Methods: A cross-sectional study of 399 hypertensive adults (≥18 years) receiving treatment for ≥1 year across primary care clinics in Mureș County, Romania, was performed. Adherence was evaluated using the Romanian-validated Hill–Bone Compliance to High Blood Pressure Therapy Scale (HBCTS) and confirmed by mean arterial pressure (MAP) < 100 mmHg. Receiver operating characteristic (ROC) curve analysis was employed to determine the optimal HBCTS cutoff, and multivariate logistic regression was used to identify independent predictors of adherence. Persistence was assessed via healthcare-engagement metrics over a 360-day observation period. Results: Effective blood pressure control (MAP < 100 mmHg) was achieved by 45.9% of participants. The HBCTS demonstrated good reliability (McDonald’s ω = 0.82). ROC analysis established 51 points as an optimal threshold (sensitivity = 88.0%, specificity = 38.9%). Male gender (OR = 0.47, 95% CI: 0.29–0.75, p = 0.002) and younger age (OR = 1.04 per year, 95% CI: 1.01–1.06, p = 0.001) independently predicted poor adherence. Treatment coverage days showed the strongest correlation with blood pressure control (r = −0.50, p < 0.001). Among participants, 67.7% demonstrated persistence, achieving significantly better blood pressure control than non-persistent patients. Conclusions: The validated HBCTS (≥51 points) provides an efficient screening tool for Romanian primary care settings. Treatment coverage days emerged as the strongest modifiable predictor of blood pressure control (r = −0.50), highlighting medication availability as a key intervention target. Targeted approaches for male and younger patients, combined with systematic medication continuity monitoring, represent evidence-based strategies for reducing cardiovascular morbidity in this population. Full article

Background. Myasthenia gravis is an autoimmune neuromuscular disease characterized by fatigue of striated muscles due to impaired neuromuscular transmission. Mitochondrial dysfunction, according to published data, contributes significantly to metabolic abnormalities, oxidative stress and, as a consequence, the persistence of inflammation. MicroRNAs, which are post-transcriptional regulators of expression, are able to contribute to the aberrant functioning of mitochondria. In this study, with the aim of searching for biomarkers at the level of circulating microRNAs and proteins, the expression of three microRNAs was analyzed and the concentration of mitochondrial proteins was measured in the blood plasma of patients with myasthenia gravis (n = 49) in comparison with healthy volunteers (n = 31). Methods. Expression analysis was performed by RT-PCR, mathematical data processing was carried out using the Livak method, and protein concentration was determined by enzyme immunoassay. Results. Our plasma expression analysis revealed a statistically significant increase in hsa-miR-194-5p expression (Log10 Fold Change = 1.46, p-value < 0.0001) and a statistically significant decrease in hsa-miR-148a-3p expression (Log10 Fold Change = −0.65, p-value = 0.02). A statistically significant decrease in plasma COQ10A concentration was also found (0.911 [0.439; 1.608] versus 1.815 [1.033; 2.916] for myasthenia gravis and controls, respectively, p-value = 0.01). Conclusion. Our data suggest hsa-miR-148a-3p and hsa-miR-194-5p, as well as COQ10A, as potential biomarkers of mitochondrial dysfunction in myasthenia gravis. Full article

Background: Ulcerative colitis (UC) requires life-long disease management. This study aimed to investigate the disease burden and unmet medical needs in UC patients in Greece. Methods: Between October 2023 and January 2024, adult UC patients who were members of the Hellenic Society of Crohn’s Disease and Ulcerative Colitis Patients (HELLESCC) completed a structured self-reported questionnaire. The survey questionnaire included sociodemographic characteristics, smoking habits, history of comorbidities, disease activity, disease characteristics, medications, and patient-reported outcomes (PROs; Short Inflammatory Bowel Disease Questionnaire [SIBDQ], Work Productivity and Activity Impairment [WPAI], Patient Health Questionnaire-9 [PHQ-9], treatment satisfaction, and treatment adherence). Univariate and multivariate logistic regression analyses were used to identify associated factors. Results: Datasets were obtained from 181 UC patients, of whom 48% were on advanced therapies (biological/small-molecule agents) and 54% had active disease. Around 74% reported impaired quality of life (QoL) (SIBDQ < 60), 25% work productivity loss, and 29% daily activity impairment. About 40% reported moderate to severe depressive symptoms (PHQ-9 ≥ 10). Reduced adherence and treatment dissatisfaction were reported by approximately one-third of patients. Female gender and disease activity were associated with moderately to severely impaired QoL, work productivity, and mental health. Interestingly, three out of four patients receiving advanced therapy reported moderately to severely impaired QoL and had increased odds of experiencing moderate to severe depression. Conclusions: The disease burden remains very high in UC, characterized by poor QoL and increased work impairment, depression, and disease activity among Greek patients. Marked treatment dissatisfaction and non-adherence were observed in approximately one-third of patients. Full article

Background/Objectives: Inflammation plays a key role in acute coronary syndromes (ACS). The systemic immune-inflammation index (SII), which integrates immune and inflammatory markers, may serve as a valuable prognostic tool. This study aimed to evaluate the utility of SII as a short-term predictor of mortality and major adverse cardiovascular and cerebral events (MACCE) in ACS patients. Methods: A retrospective analysis was conducted on 964 ACS patients admitted in 2023. SII was calculated from admission hematological parameters. Primary and secondary outcomes were 30-day mortality and MACCE, respectively. Results: SII levels differed significantly across ACS subtypes (p < 0.001), highest in ST-segment elevation myocardial infarction (STEMI) and lowest in unstable angina. SII was markedly higher in deceased patients (2003.79 ± 1601.17) vs. survivors (722.04 ± 837.25; p < 0.001) and remained an independent predictor of mortality (OR = 1.038, p < 0.001). Similarly, SII was elevated in MACCE cases (1717 ± 1611.32) vs. non-MACCE (664.68 ± 713.11; p < 0.001) and remained predictive in multivariate analysis (OR = 1.080, p < 0.001). Predictive accuracy for MACCE was moderate (AUC = 0.762), improved when combined with GRACE 2, especially in specificity (p = 0.07). In STEMI, SII had excellent accuracy (AUC = 0.874), outperforming neutrophil–lymphocyte ratio and C-reactive protein. SII rose at 24 h and declined at 48 h in STEMI, with a slower decline in MACCE patients. Conclusions: SII proved to be a cost-effective biomarker reflecting inflammation, immunity, and thrombosis. Elevated SII predicted short-term MACCE and mortality in ACS, with improved prognostic power when combined with GRACE 2. Persistent elevation may signal ongoing inflammation and increased MACCE risk. Full article

Background/Objectives: Cognitive impairment in older adults has emerged as a growing public health concern, particularly in relation to COVID-19 infection and its associated neuropsychiatric symptoms. The identification of modifiable risk factors may contribute to the development of targeted preventive strategies. This study aimed to assess predictors of cognitive impairment in older adults with and without recent SARS-CoV-2 infection. Methods: A prospective cohort study was conducted from June 2023 to March 2024 at a tertiary hospital in western Mexico. Adults aged 65 years or older with confirmed SARS-CoV-2 infection within the previous six months, along with uninfected controls, were enrolled. Cognitive function (Mini-Mental State Examination), depression (PHQ-9), anxiety (Geriatric Anxiety Inventory), insomnia (Insomnia Severity Index), functional status (Katz Index and Lawton–Brody Scale), and laboratory markers were evaluated at baseline, three months, and six months. The primary outcome was cognitive impairment at six months. Independent predictors were identified using a multivariable generalized linear mixed-effects model. Results: Among the 111 participants, 20 (18.8%) developed cognitive impairment within six months. Low serum magnesium (adjusted risk ratio [aRR] 2.73; 95% CI 1.04–7.17; p = 0.041) and depression (aRR 5.57; 95% CI 1.88–16.48; p = 0.002) were independently associated with a higher risk. A significant synergistic among COVID-19, depression, and hypomagnesemia was observed (RR 44.30; 95% CI 9.52–206.21; p < 0.001), corresponding to the group with simultaneous presence of all three factors compared to the group with none. Conclusions: Depression and hypomagnesemia appear to be independent predictors of cognitive impairment in older adults with recent COVID-19 infection. These findings suggest potential targets for prevention and support the implementation of routine neuropsychiatric and biochemical assessments in this population. Full article

Background: Catheter ablation of the arrhythmogenic substrate has emerged as a promising therapeutic strategy for symptomatic Brugada syndrome (BrS). However, high-quality comparative evidence against conventional implantable cardioverter-defibrillator (ICD)-based management remains limited. Objectives: This meta-analysis aimed to evaluate the efficacy of catheter ablation in reducing ventricular fibrillation (VF) recurrence in symptomatic BrS compared to standard therapy. Methods: Medline, Cochrane Library, and Scopus were systematically searched through 1 June 2025. Study selection, data extraction, and quality assessment were independently conducted by three reviewers. Random-effects meta-analyses were used to pool risk estimates. Results: Three studies (two randomized controlled trials, one observational cohort; 130 symptomatic BrS patients) were included. Over a median follow-up of 3.9 years, catheter ablation was associated with a significantly lower risk of VF recurrence compared to standard therapy [risk ratio (RR) = 0.19, 95% confidence interval (CI) = (0.06, 0.60); I² = 36%, p for heterogeneity = 0.21], with no deaths reported in any group. A sensitivity analysis restricted to randomized trials confirmed similar findings in favor of ablation. Conclusions: Catheter ablation was associated with reduced VF recurrence compared to ICD therapy alone, supporting its potential role as first-line treatment in symptomatic BrS or as an alternative for patients who decline ICD implantation. Full article

The management of acute lymphoblastic leukemia (ALL), the most common pediatric malignancy, critically relies on thiopurine therapy, such as 6-mercaptopurine (6-MP), during the maintenance phase. However, significant inter-individual response variety and high risk of myelosuppression often disrupt therapy efficacy. Pharmacogenetics offer crucial strategies to personalized therapy. While thiopurine methyltransferase (TPMT) was initially the primary focus, the discovery of nudix hydrolase 15 (NUDT15) appears as a more comprehensive determinant of thiopurine intolerance. This review aims to consolidate and critically evaluate the advancement achieved in unraveling the biological mechanism and clinical significance of NUDT15 pharmacogenetics in thiopurine therapy. Foundational studies showed the vital role of NUDT15 in the detoxification of active thiopurines, with common genetic variants (for instance, p. Arg139Cys) significantly disrupting its activity, leading to the accumulation of toxic metabolites. Observational studies consistently associated NUDT15 variants with severe myelosuppression, notably in Asian populations. Recent randomized controlled trials (RCTs) confirmed that NUDT15 genotype-guided dosing effectively reduces thiopurine-induced toxicity without interfering with the therapeutic outcome. Despite these advancements, challenges remain present, including the incomplete characterization of rare variants, limited data in the diverse Asian populations, and the need for standardized integration with metabolite monitoring. In conclusion, NUDT15 pharmacogenetics is essential for improving patient safety and thiopurine dosage optimization in the treatment of ALL. For thiopurine tailored medicine to be widely and fairly implemented, future research should focus on increasing genetic data across different populations, improving the dose adjustment algorithm, and harmonizing therapeutic guidelines. Full article

Sleep disorders and stroke are intricately linked through a complex, bidirectional relationship. Sleep disturbances such as obstructive sleep apnea (OSA), insomnia, and restless legs syndrome (RLS) not only increase the risk of stroke but also frequently emerge as consequences of cerebrovascular events. OSA, in particular, is associated with a two- to three-fold increased risk of incident stroke, primarily through mechanisms involving intermittent hypoxia, systemic inflammation, endothelial dysfunction, and autonomic dysregulation. Conversely, stroke can disrupt sleep architecture and trigger or exacerbate sleep disorders, including insomnia, hypersomnia, circadian rhythm disturbances, and breathing-related sleep disorders. These post-stroke sleep disturbances are common and significantly impair rehabilitation, cognitive recovery, and quality of life, yet they remain underdiagnosed and undertreated. Early identification and management of sleep disorders in stroke patients are essential to optimize recovery and reduce the risk of recurrence. Therapeutic strategies include lifestyle modifications, pharmacological treatments, medical devices such as continuous positive airway pressure (CPAP), and emerging alternatives for CPAP-intolerant individuals. Despite growing awareness, significant knowledge gaps persist, particularly regarding non-OSA sleep disorders and their impact on stroke outcomes. Improved diagnostic tools, broader screening protocols, and greater integration of sleep assessments into stroke care are urgently needed. This narrative review synthesizes current evidence on the interplay between sleep and stroke, emphasizing the importance of personalized, multidisciplinary approaches to diagnosis and treatment. Advancing research in this field holds promise for reducing the global burden of stroke and improving long-term outcomes through targeted sleep interventions. Full article

Introduction: Lichen sclerosus (LSc) is a chronic, progressive, inflammatory skin disease that primarily affects the anogenital region in both sexes and across all age groups. Aim: To investigate the relationship between quality of life (QoL) and disease severity, as measured by a newly developed Lichen Sclerosus Score (LSc score), with respect to anatomical site before and after 12 weeks of treatment. Methods: A total of 136 patients diagnosed with LSc (88 men, 48 women) were enrolled between March and September 2022. Patients were clinically evaluated using the LSc score and completed the Dermatology Life Quality Index (DLQI). Treatment was individualized based on clinical findings and history. At 12 weeks, both clinical assessment and DLQI were repeated. Results: LSc scores significantly decreased following treatment (p < 0.001), except in the female subgroup. In men, LSc scores were strongly correlated with DLQI scores both before (r = 0.709; p < 0.001) and after (r = 0.492; p < 0.001) treatment. Among women, a significant correlation was found only before treatment (r = 0.457; p < 0.001). Significant associations were identified between LSc score and DLQI items 1, 8, and 9 in men and the overall cohort. No statistically significant differences in LSc scores or DLQI were observed across anatomical sites after correction for multiple comparisons. Conclusions: Disease severity in genital LSc is closely associated with QoL impairment. This is, to our knowledge, the first study to examine the correlation between a clinical severity score and DLQI. While anatomical site did not significantly affect scores, certain sites may have a disproportionate impact, underscoring the complex ways in which LSc affects patients’ lives. Full article

Background/Objectives: Aging is associated with a gradual decline in physical capabilities, often leading to impaired balance and reduced functional status, which are major contributors to falls in older adults. Although many studies have assessed these variables independently, a limited amount of research has explored the direct relationship between balance and functional status in a healthy geriatric population. The aim of this study was to investigate the relationship between balance and functional capacity and to assess the influence of demographic factors such as age, comorbidities, smoking status, and history of falls. Methods: A sample of community-dwelling older adults (19 women, 16 men) (n = 35), aged 60 years and above (M = 78 years; SD = 9.23) from Sparta, Greece, took part in the present study. Participants were assessed using three validated tools: (a) the Five Times Sit-to-Stand test, (b) the Timed Up-and-Go test, and (c) the Berg Balance Scale. Spearman’s rank correlation coefficient was used for statistical analysis (α = 0.05). Results: Age was positively correlated with poorer performance in the Five Times Sit-to-Stand (r = 0.40; p < 0.01) and the Timed Up-and-Go test (r = 0.47; p < 0.01) and negatively correlated with Berg Balance Scale scores (r = −0.51; p < 0.01). Comorbidities and smoking were also associated with the Berg Balance Scale. A strong negative correlation was observed between balance and the other two functional tests (Five Times Sit-to-Stand: r = −0.51; Timed Up-and-Go: r = −0.66; both p < 0.01). Conclusions: The findings highlight the importance of evaluating both balance and functional capacity in older adults as interrelated factors that can significantly influence quality of life and fall risk. Future research with larger and more diverse populations is recommended to confirm the present findings and to use exercise programs to prevent falls in the geriatric population. Full article

Background/Objectives: Infertility, defined as the failure to achieve pregnancy after one year of regular unprotected intercourse, represents a significant global health challenge, with male factors contributing to approximately 50% of cases. In this epidemiological context, both primary male infertility (the inability to conceive a first child) and secondary male infertility (which occurs when a man who has already fathered a child faces difficulty conceiving again) remain poorly understood at the genetic level. This study explored the role of single-nucleotide polymorphisms (SNPs) in mitochondrial genes (MT-ND3, MT-ND4L, and MT-ND4) in primary and secondary male infertility. Methods: This study analyzed the genotype distributions of SNPs in 68 infertile males (49 with primary infertility and 19 with secondary infertility) using Sanger sequencing. Results: Key findings revealed that studied SNPs were significantly associated with infertility type. Specifically, rs2857285 (T>C,G) in the ND4 gene showed a significant correlation (p = 0.023) with the TT genotype, which is prominent in primary infertility. Another SNP, rs28358279 (T>A,C) in the ND4L gene, also demonstrated a significant correlation (p = 0.046) with the TT genotype, being more common in primary infertility. In addition, rs869096886 (A>G) in the ND4 gene had a borderline correlation (p = 0.051), indicating a possible association between this SNP and reproductive duration. Conclusions: This study emphasizes the potential relevance of mitochondrial malfunction in male infertility, specifically the effects of studied SNPs on sperm survival and function over time. These findings suggest that certain mitochondrial SNPs might be potential biomarkers for infertility risk. Larger studies are needed to confirm these associations and examine the functional effects of these SNPs. Combining genetic analysis with environmental and lifestyle factors could enhance our understanding of male infertility and improve diagnostic and therapeutic strategies. Full article