Search Results (365)

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

Background/Objectives: Cardiovascular diseases (CVDs) are frequently associated with psychiatric and cognitive comorbidities. These conditions have been shown to significantly impact quality of life and clinical outcomes. This study aims to evaluate the prevalence of anxiety, depression, and cognitive deficits in patients with CVD and to compare the results with existing evidence in the literature. Methods: A total of 74 patients were assessed using the following standardized screening tools: Montreal Cognitive Assessment (MoCA), Mini-Mental State Examination (MMSE), Beck Depression Inventory-II (BDI-II), and Beck Anxiety Inventory (BAI). A systematic review was then conducted to compare the findings with those reported in the literature. Results: Most previous studies using the MoCA reported an over 70% absence of cognitive impairment, whereas this study shows a balanced distribution between the absence of (32.4%) and mild (35%) or moderate (32%) impairment. Studies with the MMSE indicated high rates of absence of cognitive deficits (74–79%), but here, the rate of absence was lower (58%), with an increase in mild impairment (42%). Regarding depression, compared with studies showing only absence or moderate/severe forms, this study reveals a more balanced profile, with 57% without depression and with varying severity levels (22% mild, 19% moderate, and 3% severe). Finally, for anxiety, unlike previous asymmetric distributions, greater variability was observed, with 58% without anxiety and significant percentages of mild (26%), moderate (12%), and severe (4%) anxiety. Conclusions: The results highlight a significant and varied prevalence of anxiety, depression, and cognitive deficits, emphasizing the importance of a multidimensional assessment to improve clinical management and therapeutic outcomes. Full article

Background/Objectives: Genetic polymorphisms in the BRCA2 gene have been implicated in breast cancer susceptibility. While numerous studies have investigated this polymorphism, its precise role in breast cancer development remains unclear. Furthermore, to the best of our knowledge, no related studies have been conducted in Azerbaijan. The aim of this study was to determine the distribution of the BRCA2 Met1915Thr polymorphism (rs4987117) in the Azerbaijani population and to evaluate its potential association with breast cancer risk. Methods: A total of 144 breast cancer patients and 152 healthy controls were recruited from the Oncology Clinic of Azerbaijan Medical University between 2021 and 2024. The Met1915Thr polymorphism was genotyped using PCR-RFLP and visualized on a 2% agarose gel. Results: A statistically significant association with increased breast cancer susceptibility was observed for the heterozygous Met/Thr genotype (OR = 1.83, 95%CI = 1.08–3.11, p = 0.02), the Thr allele (OR = 1.57, 95%CI = 1.12–2.20, p = 0.008), and under the dominant inheritance model (OR = 1.83, 95%CI = 1.15–2.90, p = 0.01). Notably, this association was more evident among individuals aged over 58 years, in whom the Met/Thr genotype conferred a significantly elevated risk (OR = 2.35, 95%CI = 1.17–4.73, p = 0.02). Conclusions: The BRCA2 Met1915Thr polymorphism is associated with an increased risk of breast cancer in the Azerbaijani population. These findings suggest a potential role of this polymorphism in breast cancer susceptibility and highlight the need for further studies in larger cohorts to validate these associations. Full article

Cardiac arrhythmias remain a major source of morbidity and mortality, often stemming from molecular and structural abnormalities that are insufficiently addressed by current pharmacologic and interventional therapies. Gene therapy has emerged as a transformative approach, offering precise and durable interventions that directly target the arrhythmogenic substrate. Across the spectrum of inherited and acquired arrhythmias—including long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, atrial fibrillation, and post-infarction ventricular tachycardia—gene-based strategies such as allele-specific silencing, gene replacement, CRISPR-mediated editing, and suppression-and-replacement constructs are showing growing translational potential. Advances in delivery platforms, including cardiotropic viral vectors, lipid nanoparticle-encapsulated mRNA, and non-viral reprogramming tools, have further enhanced the specificity and safety of these approaches. Additionally, innovative applications such as biological pacemaker development and mutation-agnostic therapies underscore the versatility of genetic modulation. Nonetheless, significant challenges remain, including vector tropism, immune responses, payload limitations, and the translational gap between preclinical models and human electrophysiology. Integration of patient-derived cardiomyocytes, computational simulations, and large-animal studies is expected to accelerate clinical translation. This review provides a comprehensive synthesis of the mechanistic rationale, therapeutic strategies, delivery platforms, and translational frontiers of gene therapy for cardiac arrhythmias. Full article

Post-craniotomy pain is common yet often sub-optimally managed because systemic opioids can obscure postoperative neurologic examinations. The superficial cervical plexus block (SCPB) has, therefore, emerged as a targeted regional anesthesia option for occipital craniotomies. The SCPB targets the C2–C4 nerves to anesthetize the occipital scalp region, covering the lesser occipital nerve territory that lies within typical posterior scalp incisions. Clinical evidence shows the block is effective in reducing acute postoperative pain after occipital craniotomy and diminishes opioid requirements. Studies have demonstrated successful and long-lasting analgesia, reductions in 24-h opioid consumption, and a lower incidence of severe pain. Moreover, the technique exhibits a low complication rate and is safer than a deep cervical plexus block because the injection remains superficial and avoids critical vascular and neural structures. When delivered under ultrasound guidance, major adverse events are exceedingly rare. By reducing opioid use, the SCPB can help reduce postoperative complications, allowing earlier neurological assessments and fewer opioid-related side effects. Incorporation of the SCPB into multimodal analgesia regimens can, therefore, accelerate postoperative recovery by providing regionally focused, opioid-sparing pain control without clinically significant sedation. Overall, current data support the SCPB as a dependable, well-tolerated, and clinically practical approach for managing post-craniotomy pain in patients undergoing occipital approaches. In this narrative review, we will discuss the mechanism of action and anatomy, the clinical application, safety and tolerability, patient outcomes, and emerging future directions of the superficial cervical plexus block and how it mitigates post-occipital craniotomy pain. Full article

Background: Environmental exposures, such as per- and polyfluoroalkyl substances (PFAS), in conjunction with social and behavioral factors, can significantly impact liver health. This research investigates the combined effects of PFAS (perfluorooctanoic acid (PFOA) and perfluorooctane sulfonate (PFOS), alcohol consumption, smoking, income, and education on liver function among the U.S. population, utilizing data from the 2017–2018 National Health and Nutrition Examination Survey (NHANES). Methods: PFAS concentrations in blood samples were analyzed using online solid-phase extraction combined with liquid chromatography–tandem mass spectrometry (LC-MS/MS), a highly sensitive and specific method for detecting levels of PFAS. Liver function was evaluated using biomarkers such as alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase (ALP), gamma-glutamyltransferase (GGT), total bilirubin, and the fatty liver index (FLI). Descriptive statistics and multivariable linear regression analyses were employed to assess the associations between exposures and liver outcomes. Bayesian Kernel Machine Regression (BKMR) was utilized to explore the nonlinear and interactive effects of these exposures. To determine the relative influence of each factor on liver health, Posterior Inclusion Probabilities (PIPs) were calculated. Results: Linear regression analyses indicated that income and education were inversely associated with several liver injury biomarkers, while alcohol use and smoking demonstrated stronger and more consistent associations. Bayesian Kernel Machine Regression (BKMR) further highlighted alcohol and smoking as the most influential predictors, particularly for GGT and total bilirubin, with posterior inclusion probabilities (PIPs) close to 1.0. In contrast, PFAS showed weaker associations. Regression coefficients were small and largely non-significant, and PIPs were comparatively lower across most liver outcomes. Notably, education had a higher PIP for ALT and GGT than PFAS, suggesting a more protective role in liver health. People with higher education levels tend to live healthier lifestyles, have better access to healthcare, and are generally more aware of health risks. These factors can all help reduce the risk of liver problems. Overall mixture effects demonstrated nonlinear trends, including U-shaped relationships for ALT and GGT, and inverse associations for AST, FLI, and ALP. Conclusion: These findings underscore the importance of considering both environmental and social–behavioral determinants in liver health. While PFAS exposures remain a long-term concern, modifiable lifestyle and structural factors, particularly alcohol, smoking, income, and education, exert more immediate and pronounced effects on hepatic biomarkers in the general population. Full article

Background/Objectives: The composition of the thrombus is not taken into account in the etiology determination of patients with acute ischemic stroke (AIS); however, it varies depending on the origin of the thrombus, as atherothrombotic thrombi contain more red blood cells and cardioembolic thrombi contain more fibrin and platelets. Radiomics has the potential to provide quantitative imaging data that may vary depending on the composition of thrombi. The aim of this study is to predict cardioembolic and atherothrombotic thrombi using radiomic features (RFs) from non-contrast computed tomography (NCCT) brain scans. Methods: A total of 845 RFs were extracted from each of the 41 patients included in the study. A predictive model was used to classify patients as either cardioembolic or atherothrombotic, and the results were compared with the TOAST criteria-based classification. Results: Ten RFs (one shape feature and nine texture features) were found to demonstrate a statistically significant correlation with cardioembolic or atherothrombotic origins. The predictive radiomics model achieved an area under the curve (AUC) of 0.842 and an accuracy of 0.902 (p < 0.001) in classifying stroke etiology. Conclusions: Radiomics based on NCCT can help to determine the etiology of AIS. Full article

Background: Atypical carcinoid of the thymus is an exceptionally rare neuroendocrine tumor originating from neuroendocrine cells within the thymus. These tumors often present with no symptoms or with nonspecific clinical signs, making early diagnosis particularly challenging. Despite their rarity, atypical carcinoids are clinically significant due to their aggressive nature and relatively poor prognosis. Early detection and appropriate management are therefore crucial to improving patient outcomes. Results: In this report, we present the case of a 64-year-old patient in whom an atypical carcinoid of the thymus was incidentally discovered following a thoracic computed tomography scan performed for unrelated reasons. Imaging revealed a suspicious anterior mediastinal mass, which was subsequently surgically resected. Histopathological examination, supported by immunohistochemical analysis, confirmed the diagnosis of an atypical carcinoid of the thymus. The tumor demonstrated coexpression of epithelial and neuroendocrine markers, consistent with this rare entity. Conclusions: This case adds to the limited body of literature on atypical carcinoid of the thymus and highlights the importance of considering this diagnosis when evaluating anterior mediastinal masses. It also underscores the value of thorough radiological and pathological assessment in identifying early-stage disease, which may significantly influence prognosis and therapeutic strategies. Full article

Background/Objectives: This paper presents a medical image analysis application designed to facilitate advanced edge detection and fuzzy processing techniques within an intuitive, modular graphical user interface. Methods: Key functionalities include classical edge detection, Ant Colony Optimization (ACO)-based edge extraction, and fuzzy edge generation, which offer improved boundary representation in images where uncertainty and soft transitions are prevalent. Results: One of the main novelties in contrast to the initial innovative Medical Image Analyzer, iMIA, is the fact that the system includes fuzzy C-means clustering to support tissue classification and unsupervised segmentation based on pixel intensity distribution. The application also features an interactive zooming and panning module with the option to overlay edge detection results. As another novelty, fuzzy performance metrics were added, including fuzzy false negatives, fuzzy false positives, fuzzy true positives, and the fuzzy index, offering a more comprehensive and uncertainty-aware evaluation of edge detection accuracy. Conclusions: The application executable file is provided at no cost for the purposes of evaluation and testing. Full article

Background/Objectives: Due to the aging population, orthopedics has become the surgical field with the fastest and greatest growth, and health systems must therefore ensure the sustainable development of this field. The objective of this study is to identify the key areas and the most relevant activities for sustainability assurance in orthopedic surgery, as well as appropriate evaluation tools. Methods: Consisted in designing the key areas for sustainable surgery and evaluating them with the support of new indicators. These areas are based on the most current and relevant practices reported by hospitals around the world. This process was followed by practical validation in an orthopedic hospital. Results: Four key areas were revealed: rationalization and reduction of consumption, correct separation and recycling of waste, reuse of textiles and equipment, and anesthetics and alternative interventions. The indicators for the evaluation of these areas were developed with the support of results reported in international studies. Each indicator has five levels of fulfilment. Their importance is evaluated on a scale from 1 to 5. Conclusions: The practical implementation at an orthopedic emergency hospital highlighted the suitability of the indicators within the purpose of the research. Sustaining the values of these changes by surgeons and patients facilitates long-term results and the orientation towards assuring the sustainability of orthopedic surgery. Full article

Background: Traumatic fractures of the cervical spine pose significant challenges in management, particularly in young patients, where preserving mobility is crucial. Patient Characteristics: A 30-year-old woman presented with a C3 lateral mass and pedicle fracture following a motor vehicle collision. Initial conservative management with a rigid cervical collar for three months failed to reduce the diastasis, and the debilitating neck pain worsened. Preoperative imaging confirmed fracture instability without spinal cord compression. Intervention and Outcome: Preoperative screw trajectory planning was conducted with the My Spine MC system (Medacta), and fine-tuning was achieved on a 3D-printed model of the vertebra. A posterior midline approach was employed to expose the C3 vertebra, and a Herbert screw was inserted under fluoroscopic guidance. Imaging at three months demonstrated significant fracture reduction and early bone fusion. The patient achieved substantial improvement in functional mobility without complications. Conclusion: Herbert screw fixation holds potential as a less-invasive alternative to conventional posterior stabilization for selected cervical fractures. This technical note provides the reader with the required information to support surgical planning and execution. Full article

Background: Severe maternal hypertension is linked to adverse perinatal outcomes. Both nifedipine and hydralazine are commonly used antihypertensive agents in this setting. Methods: A comprehensive literature search was conducted in PubMed, Cochrane Library, and EMBASE from inception to April 2024 to identify randomized controlled trials comparing oral or sublingual nifedipine with intravenous hydralazine for the management of severe hypertension, with or without preeclampsia/eclampsia. A random-effects meta-analysis was performed using RevMan. Results: Seven randomized controlled trials were included. The pooled analysis demonstrated no significant difference between the two agents regarding time to achieve optimal blood pressure control (MD = −1.08 min, 95% CI = −6.66 to 4.49), caesarean delivery (OR = 0.62, 95% CI = 0.38 to 1.03), neonatal birth weight (MD = 57.65 g, 95% CI = −209.09 to −324.40), NICU admissions (OR = 0.90, 95% CI = 0.41 to 1.98), and 5-min APGAR scores (MD = 0.1, 95% CI = −0.20 to 0.39). However, patients receiving nifedipine had significantly lower odds of experiencing medication-related adverse events (OR = 0.62, 95% CI = 0.40 to 0.97). Conclusions: Nifedipine and intravenous hydralazine showed comparable efficacy in achieving optimal blood pressure control and similar maternal and neonatal outcomes. However, nifedipine was associated with significantly fewer maternal adverse effects, indicating superior tolerability. Full article

Hip fractures are among the most serious health events in older adults, frequently leading to disability, loss of independence, and elevated mortality. In 2019, an estimated 9.6 million new cases occurred globally among adults aged ≥ 55 years, with an incidence rate of 681 per 100,000. Despite improved surgical care, one-year mortality remains high (15–30%), and fewer than half of survivors regain their pre-fracture functional status. Traditionally regarded as mechanical injuries, hip fractures are now increasingly recognized as systemic events reflecting and accelerating biological vulnerability and frailty progression. We synthesize evidence across biological, clinical, and social domains to explore the systemic implications of hip fracture, from the acute catabolic response and immune dysfunction to long-term functional decline. The concept of intrinsic capacity, introduced by the World Health Organization, offers a resilience-based framework to assess the multidimensional impact of hip fracture on physical, cognitive, and psychological function. We highlight the importance of orthogeriatric co-management, early surgical intervention, and integrated rehabilitation strategies tailored to the individual’s functional reserves and personal goals. Innovations such as digital health tools, biological aging biomarkers, and personalized surgical approaches represent promising avenues to enhance recovery and autonomy. Ultimately, we advocate for a shift toward interdisciplinary, capacity-oriented models of care that align with the goals of healthy aging and enable recovery that transcends survival, focusing instead on restoring function and quality of life. Full article

Diabetic vascular diseases have emerged as a significant concern in medical research due to their considerable impact on human health. The challenge lies in the insufficient understanding of the intricate pathophysiological mechanisms associated with different forms of diabetic vascular diseases, which hampers our ability to identify effective treatment targets. Addressing this knowledge gap is essential for developing successful interventions. Unraveling the molecular pathways through which diabetes leads to microvascular and macrovascular complications in vital organs such as the heart, brain, kidneys, retina, and extremities is crucial. Notably, oxidative stress resulting from hyperglycemia is the key factor in initiating these complications. This review aims to elucidate the specific molecular mechanisms by which oxidative stress drives microvascular and macrovascular diseases and to highlight promising therapeutic advancements that offer hope for effective treatment solutions. Full article

Background: Emergency laparoscopic cholecystectomy (ELC) has emerged as a viable alternative to delayed elective surgery for acute gallstone disease, although its widespread adoption is hindered by cultural barriers. This study compares outcomes between elective and emergency laparoscopic cholecystectomy and evaluates the impact of implementing an ELC pathway on elective waiting times, patient outcomes, and overall service delivery. Methods: A prospective cohort study was conducted between December 2021 and December 2023, including all patients undergoing emergency or elective laparoscopic cholecystectomy. One-to-one propensity score matching, correlation statistics, and multivariate logistic regression were used to analyse outcomes. Results: Of 585 patients, 314 (53.4%) underwent emergency and 271 (46.3%) elective cholecystectomies. After matching, 474 patients were analysed (237 per group). The ELC pathway achieved an 81.4% first-presentation procedure rate, with 69.2% managed as day cases and 84.4% discharged the following day. Emergency cases had longer operative times (+9 min), higher rates of subtotal cholecystectomy (8.9% vs. 3.0%, p < 0.001), and more frequent postoperative ERCP (16.9% vs. 4.6%, p < 0.001). Other outcomes were comparable. Introduction of the ELC pathway significantly reduced elective waiting times from a median of nine to three months (R = −0.219, R² = 0.059, p < 0.001) and preoperative admissions (IQR 0–1, R = −0.223, R² = 0.050, p = 0.002). Conclusions: An ELC pathway is a safe and effective alternative to elective gallstone surgery, offering substantial benefits to patients and healthcare systems, while serving as a strategic, cost-conscious approach to reducing surgical waiting times and preoperative admissions. Its success hinges upon surgical expertise in acute decision making, skill in performing subtotal cholecystectomy, and access to institutional resources such as advanced imaging and ERCP services. Full article