Search Results (23,864)

Background and Clinical Significance: Membranoproliferative glomerulonephritis (MPGN) is a rare and heterogeneous pattern of immune-mediated glomerular injury, often associated with infections, autoimmune disorders, or monoclonal gammopathies. Idiopathic cases remain a diagnostic challenge and frequently require empirical immunosuppressive treatment. There is increasing interest in environmental triggers that may activate the immune system in genetically or immunologically predisposed individuals. We report an unusual case of idiopathic immune complex-mediated MPGN with a relapsing course potentially associated with vaccine-induced immune reactivation. Case Presentation: A 35-year-old male with no significant medical history aside from untreated dyslipidemia and active smoking presented with a hypertensive emergency and acute kidney injury (AKI). Laboratory investigations revealed nephrotic-range proteinuria, microscopic hematuria, and reduced estimated glomerular filtration rate (eGFR). Kidney biopsy demonstrated type I immune complex-mediated MPGN with a diffuse endocapillary proliferative pattern and granular subendothelial deposits (IgG+++, C3+++, C1q++). An extensive work-up ruled out secondary causes, supporting a diagnosis of idiopathic MPGN. Immunosuppressive therapy with corticosteroids and mycophenolate mofetil led to a partial clinical response. However, after receiving multiple vaccinations, the patient experienced clinical deterioration. A second biopsy revealed persistent proliferative changes and new deposits of IgM++, C4d++, and both kappa and lambda light chains. This prompted a reintroduction of immunosuppressive therapy, which resulted in subsequent clinical improvement. Conclusions: This case supports the hypothesis that vaccine-induced immune reactivation may serve as a potential trigger for disease relapse in idiopathic MPGN. Clinicians should remain alert to environmental stimuli that may influence disease activity in immune-mediated glomerulopathies. Further research is needed to elucidate the underlying immunopathogenic mechanisms. Full article

(1) Background: The COVID-19 pandemic presented unprecedented challenges for people with multiple sclerosis (PwMS) in Oman, necessitating targeted healthcare planning and patient support. This study aimed to investigate the impact of COVID-19 on MS management and disease course, incidence, and outcomes of COVID-19, psychosocial and mental health effects of the pandemic, and demographic and clinical predictors of the effects related to COVID-19 among Omani PwMS. (2) Methods: This cross-sectional study was conducted from January to April 2021. Adult (18–60 years) Omani PwMS completed a structured interview along with the Expanded Disability Status Scale (EDSS) and World Health Organization Well-being Index (WHO-5). Clinical data on relapses and disease-modifying therapies and adherence were analyzed. The data was statistically analyzed. (3) Results: Of 104 PwMS (73.1% female), 22.1% contracted COVID-19, with fatigue being the most reported symptom (87%). Female sex (p = 0.042), younger age (18–34 vs. 35–45 years; p = 0.014), diagnosis of COVID-19 (p = 0.037), and low current mental well-being scores (p = 0.021) predicted greater COVID-19-related effects. (4) Conclusion: These findings highlight the need to study the mental resilience of this subgroup of PwMS and provide them with targeted support during crises. Full article

Congenital portosystemic shunts (CPSSs) are often associated with life-threatening systemic complications, which may be detected by identifying hypergalactosemia in newborn screening (NBS). However, diagnosing CPSS at an early stage is not easy. The purpose of this study was to predict CPSS early using screening values and general blood tests. The medical records of 153 patients with hypergalactosemia who underwent NBS in Saitama Prefecture between 1 December 1997 and 31 October 2023 were retrospectively analyzed. We provided the final diagnosis of the analyzed patients. Of the 153 patients, 44 (29%) were in the CPSS group and 83 (54%) were in the transient galactosemia group. Using the initial screening items and the six blood test items, we attempted to extract a CPSS group from the transient galactosemia group. Finally, a model for CPSS prediction was established. From multiple logistic regression analysis, filtered blood galactose-1 phosphate/galactose, serum total bile acid, and ammonia were adopted as explanatory variables for the prediction model. If the cut-off value for predicted disease probability value (P) was >0.357, CPSS was identified with 86.4% sensitivity (95%CI 72.6–94.8%) and 81.9% specificity (95%CI 72.0–89.5%). This predictive model might allow prediction of CPSS and early intervention. Full article

As people with cystic fibrosis (PwCF) live longer, kidney disease is emerging as a significant comorbidity that is increasingly linked to cardiovascular complications and progression to end-stage kidney disease. In our recent review, we proposed the unifying term CF-related kidney disease (CFKD) to encompass the spectrum of kidney dysfunction observed in this population. Early detection of kidney injury is critical for improving long-term outcomes, yet remains challenging due to the limited sensitivity of conventional laboratory tests, particularly in individuals with altered muscle mass and unique CF pathophysiology. Emerging approaches, including novel blood and urinary biomarkers, urinary extracellular vesicles, and genetic risk profiling, offer promising avenues for identifying subclinical kidney damage. When integrated with machine learning algorithms, these tools may enable the development of personalized risk stratification models and targeted therapeutic strategies. This precision medicine approach has the potential to transform kidney disease management in PwCF, shifting care from reactive treatment of late-stage disease to proactive monitoring and early intervention. Full article

Aseptic abscess syndrome is a clinical entity that is being increasingly documented. Unfortunately, apart from the French registry, there are no other studies presenting collective data. In this review, we sought to analyze clinical and laboratory data from case reports published from the rest of the world. A total of 107 articles were found through our literature search in PubMed, Scopus, and Google, which contained 108 patients who met our eligibility criteria, including pediatric cases. The mean age at diagnosis was 39.1 years, and 54.6% of the patients were female. Cases were found affecting almost every organ, but the most common abscess locations were the spleen (51.9%), liver (35.2%), and lung (23.1%); 34.3% of the patients had multiorgan disease at diagnosis. An inflammatory syndrome was evident, with fever (79.6%), pain (66.7%), median white blood cell count of 16,200/μL, median C-reactive protein level of 15.5 mg/dL, and mean erythrocyte sedimentation rate of 79 mm/h. In total, 88.9% had an associated disease, with the most frequent being neutrophilic dermatosis (43.5%) and inflammatory bowel disease (31.5%); associated disease was inactive during abscess diagnosis in approximately one-quarter of patients. Moreover, 93.5% received corticosteroids with or without other agents, while 21.3% underwent excision surgery, which led to relapse if immunosuppressants were not concomitantly administered. No deaths were reported due to the syndrome, but 42.4% of cases that provided relevant data relapsed despite the relatively short follow-up period (median 1 year), either in the same or different organs. Combined immunomodulatory treatment, based on subgroup analysis, appeared protective against relapse in females and patients with splenic abscess or C-reactive protein >12 mg/dL (odds ratio 0.16 [95% CI 0.04–0.59]/p = 0.004, 0.09 [95% CI 0.01–0.62]/p = 0.008 and 0.23 [95% CI 0.06–0.92]/p = 0.03, respectively). Infection should always be the working diagnosis in patients with abscesses. However, if the infectious workup is negative, antimicrobials have failed, and no sepsis is present, then aseptic abscess syndrome should be considered; response to high-dose corticosteroids is a therapeutic criterion in almost all cases. Full article

The sphingolipidoses Fabry disease, Gaucher disease and Acid sphingomyelinase deficiency (ASMD) are the three most common lysosomal storage diseases for which treatment is currently available. Timely diagnosis with estimation of the disease severity and possibilities of follow-up of patients, whether or not under therapy, is crucial for providing good care and for the prevention of possible lethal complications. With this research we provide an efficient and sensitive detection method; its implementation in clinical practice could optimize the diagnosis and follow-up of patients with Gaucher, Fabry and ASMD. This detection method on dried blood spots (DBS) was validated according to the international Clinical and Laboratory Standards Institute (CLSI) guidelines, looking at reproducibility, linearity, carry-over and lower limit of quantification. Analogously, validation and subsequent comparison of the method validation results using another matrix, the Capitainer blood sampling cards (Capitainers), was fulfilled. The results showed that this detection method is fully applicable clinically when using DBS as well as Capitainers. In addition, even additional improvements of some validation parameters were found when using the Capitainers. Twenty-six patient samples and fifteen healthy samples were analyzed for case finding control. All patient cases were detected without ambiguity. We present a high-resolution mass spectrometry method that provides an accurate analysis for targeted screening, aiming for improved/accelerated diagnosis when added in the diagnostic pathway and monitoring of Fabry, Gaucher and ASMD in DBS as well as in Capitainers, with the main advantages of a small volume of blood samples, guaranteeing stability and easy transportation from the collection site to the laboratory. Full article

Objective: With a global prevalence ranging from 50% to 100%, gingivitis is considered the most common oral disease in adults worldwide. It is characterized by clinical signs of inflammation, such as redness, swelling and bleeding, on gentle probing. Although it is considered a milder form of periodontal disease, gingivitis plays an important role in overall oral health. Early detection and treatment are essential to prevent progression to more severe conditions. Typically, diagnosis is performed by dental professionals, as individuals are often unable to accurately assess whether they are affected. Therefore, the aim of the present study was to determine to what degree gingivitis is visually detectable by an easy-to-use camera-based application. Materials and methods: Standardized intraoral photographs were taken using a specialized intraoral camera and processed using a custom-developed filter based on a machine-learning algorithm. The latter was trained to highlight areas suggestive of gingivitis. A total of 110 participants were enrolled through ad hoc sampling, resulting in 320 assessable test sites. A dentist provided two reference standards: the clinical diagnosis based on bleeding on probing of the periodontal sulcus (BOP) and an independent visual assessment of the same images. Agreement between diagnostic methods was measured using Cohen’s kappa statistic. Results: The agreement between the application’s output and the BOP-based clinical diagnosis was low, with a kappa value of 0.055 [p = 0.010]. Similarly, the dentist’s visual assessment of clinical photos showed low agreement with BOP, with a kappa value of 0.087 [p < 0.001]. In contrast, the agreement between the application and the dentist’s photo-based evaluations was higher, with a kappa value of 0.280 [p < 0.001]. Conclusions: In its current form, the camera-based application is not able to reliably detect gingivitis. The low level of agreement between dentists’ visual assessments and the clinical gold standard highlights that gingivitis is difficult to identify merely visually. These results underscore the need to refine visual diagnostic approaches further, which could support future self-assessment or remote screening applications. Full article

Background/Objectives: Invasive coronary angiography (ICA) is the gold standard for the diagnosis of coronary artery disease (CAD), with various non-invasive imaging modalities also available. Machine learning (ML) methods are increasingly applied to overcome the limitations of diagnostic imaging by improving accuracy and observer independent performance. Methods: This meta-analysis (PRISMA method) summarizes the evidence for ML-based analyses of coronary imaging data from ICA, coronary computed tomography angiography (CT), and nuclear stress perfusion imaging (SPECT) to predict clinical outcomes and performance for precise diagnosis. We searched for studies from Jan 2012–March 2023. Study-reported c index values and 95% confidence intervals were used. Subgroup analyses separated models by outcome. Combined effect sizes using a random-effects model, test for heterogeneity, and Egger’s test to assess publication bias were considered. Results: In total, 46 studies were included (total subjects = 192,561; events = 31,353), of which 27 had sufficient data. Imaging modalities used were CT (n = 34), ICA (n = 7) and SPECT (n = 5). The most frequent study outcome was detection of stenosis (n = 11). Classic deep neural networks (n = 12) and convolutional neural networks (n = 7) were the most used ML models. Studies aiming to diagnose CAD performed best (0.85; 95% CI: 82, 89); models aiming to predict clinical outcomes performed slightly lower (0.81; 95% CI: 78, 84). The combined c-index was 0.84 (95% CI: 0.81–0.86). Test of heterogeneity showed a high variation among studies (I² = 97.2%). Egger’s test did not indicate publication bias (p = 0.485). Conclusions: The application of ML methods to diagnose CAD and predict clinical outcomes appears promising, although there is lack of standardization across studies. Full article

Moyamoya disease (MMD) is primarily associated with genetic variants in RNF213. RNF213 p.R4810K (c.14429G>A, p.Arg4810Lys) is a founder variant predominantly found in East Asian populations and is strongly associated with MMD, a rare cerebrovascular condition characterized by progressive stenosis of intracranial arteries and the development of abnormal collateral networks. Recent evidence suggests that RNF213 variants are also enriched in non-moyamoya intracranial arteriopathies, such as large-artery atherosclerotic stroke and intracranial arterial stenosis/occlusion (ICASO), particularly in east Asian individuals with early-onset or cryptogenic stroke. This expanded phenotypic spectrum, termed RNF213-related vasculopathy (RRV), represents a distinct pathogenic entity that may involve unique pathogenic processes separate from traditional atherosclerosis. In this review, we synthesize current genetic, clinical, radiological, and experimental findings that delineate the unique features of RRV. Patients with RRV typically exhibit a lower burden of traditional vascular risk factors, negative vascular remodeling in the absence of atheromatous plaques, and an increased propensity for disease progression. RNF213 variants may compromise vascular resilience by impairing adaptive responses to hemodynamic stress. Furthermore, emerging cellular and animal model data indicate that RNF213 influences angiogenesis, lipid metabolism, and stress responses, offering mechanistic insights into its role in maintaining vascular integrity. Recognizing RRV as a distinct clinical entity has important implications for diagnosis, risk stratification, and the development of genome-informed therapeutic strategies. Full article

Prostate cancer (PCa) is the second most frequently diagnosed malignancy in men worldwide. Although traditionally considered a disease of older men, the incidence of early-onset PCa (diagnosis < 55 years) is steadily rising. Advances in screening and therapy have significantly improved survival, creating a growing cohort of younger survivors for whom post-treatment quality of life—notably reproductive function—is paramount. Curative treatments such as radical prostatectomy, pelvic radiotherapy, androgen-deprivation therapy (ADT), and chemotherapy often cause irreversible infertility via multiple mechanisms, including surgical disruption of the ejaculatory tract, endocrine suppression of spermatogenesis, direct gonadotoxic injury to the testes, and oxidative sperm DNA damage. Despite these risks, fertility preservation is frequently overlooked in pre-treatment counseling, leaving many patients unaware of their options. This narrative review synthesizes current evidence on how PCa therapies impact male fertility, elucidates the molecular and physiological mechanisms of iatrogenic infertility, and evaluates both established and emerging strategies for fertility preservation and restoration. Key interventions covered include sperm cryopreservation, microsurgical testicular sperm extraction (TESE), and assisted reproductive technologies (ART). Psychosocial factors influencing decision-making, novel biomarkers predictive of post-treatment spermatogenic recovery, and long-term offspring outcomes are also examined. The review underscores the urgent need for timely, multidisciplinary fertility consultation as a routine component of PCa care. As PCa increasingly affects men in their reproductive years, proactively integrating preservation into standard oncologic practice should become a standard survivorship priority. Full article

Intravascular biosensors have become a crucial and novel class of devices in healthcare, enabling the constant real-time monitoring of essential physiological parameters directly within the circulatory system. Recent developments in micro- and nanotechnology have relevantly improved the sensitivity, miniaturization, and biocompatibility of these devices, thereby enabling their application in precision medicine. This review summarizes the latest advances in intravascular biosensor technologies, with a special focus on glucose and oxygen level monitoring, blood pressure and heart rate assessment, and early disease diagnostics, as well as modern approaches to drug therapy monitoring and delivery systems. Key challenges such as long-term biostability, signal accuracy, and regulatory approval processes are critical considerations. Innovative strategies, including biodegradable implants, nanomaterial-functionalized surfaces, and integration with artificial intelligence, are regarded as promising avenues to overcome current limitations. This review provides a comprehensive roadmap for upcoming research and the clinical translation of advanced intravascular biosensors with a strong emphasis on their transformative impact on personalized healthcare. Full article

Inflammatory Bowel Diseases (IBDs) are complex, multifactorial disorders with no known cure, necessitating lifelong care and often leading to surgical interventions. This ongoing healthcare requirement, coupled with the increased use of biological drugs and rising disease prevalence, significantly increases the financial burden on the healthcare systems. Thus, a number of novel technological approaches have emerged in order to face some of the pivotal questions still associated with IBD. In navigating the intricate landscape of IBD, biosensors act as indispensable allies, bridging the gap between traditional diagnostic methods and the evolving demands of precision medicine. Continuous progress in biosensor technology holds the key to transformative breakthroughs in IBD management, offering more effective and patient-centric healthcare solutions considering the One Health Approach. Here, we will delve into the landscape of biomarkers utilized in the diagnosis, monitoring, and management of IBD. From well-established serological and fecal markers to emerging genetic and epigenetic markers, we will explore the role of these biomarkers in aiding clinical decision-making and predicting treatment response. Additionally, we will discuss the potential of novel biomarkers currently under investigation to further refine disease stratification and personalized therapeutic approaches in IBD. By elucidating the utility of biosensors across the spectrum of IBD care, we aim to highlight their importance as valuable tools in optimizing patient outcomes and reducing healthcare costs. Full article

Sexually transmitted infections (STIs) are a significant global health concern, affecting millions of people worldwide, particularly sexually active adolescents and young adults. These infections, caused by various pathogens, including bacteria, viruses, parasites, and fungi, can have profound implications for women’s reproductive health and fertility. This review explores the role of vaginal and uterine infections in women’s infertility, focusing on the most common pathogens and their impact on reproductive outcomes. Bacterial infections, such as those caused by intracellular bacteria (Mycoplasma, Ureaplasma, and Chlamydia), Neisseria gonorrhoeae, and bacterial vaginosis, are among the most prevalent causes of infertility in women. Studies have shown that these infections can lead to pelvic inflammatory disease, tubal occlusion, and endometrial damage, all of which can impair fertility. Mycobacterium tuberculosis, in particular, is a significant cause of genital tuberculosis and infertility in high-incidence countries. Viral infections, such as Human papillomavirus (HPV) and Herpes simplex virus (HSV), can also affect women’s fertility. While the exact role of HPV in female infertility remains unclear, studies suggest that it may increase the risk of endometrial implantation issues and miscarriage. HSV may be associated with unexplained infertility. Parasitic infections, such as trichomoniasis and schistosomiasis, can directly impact the female reproductive system, leading to infertility, ectopic pregnancy, and other complications. Fungal infections, such as candidiasis, are common but rarely have serious outcomes related to fertility. The vaginal microbiome plays a crucial role in maintaining reproductive health, and alterations in the microbial balance can increase susceptibility to STIs and infertility. Probiotics have been proposed as a potential therapeutic strategy to restore the vaginal ecosystem and improve fertility outcomes, although further research is needed to establish their efficacy. In conclusion, vaginal and uterine infections contribute significantly to women’s infertility, with various pathogens affecting the reproductive system through different mechanisms. Early diagnosis, appropriate treatment, and preventive measures are essential to mitigate the impact of these infections on women’s reproductive health and fertility. Full article

Backgrounds: The incidence of gastrointestinal cancers (GICs), though decreased in recent years, still accounts for 35% of all cancer-related mortality. The proper identification of risk factors, early diagnosis, and therapy optimization represent the three cornerstones of GIC treatment. In four-stage diseases, chemotherapy embodies target therapy that may prolong patients’ expectancy when suitably applied. Patients and Methods: There were 133 (82 (62%) male and 51 (38%) female) consecutive patients with a median age of 70 (64–74) years who underwent palliative treatment due to four-stage colorectal cancer (CRC) between 2022 and 2024. The demographic, clinical, and laboratory data and applied chemotherapeutic protocols were evaluated regarding the response to applied therapy, resulting in complete or partial tumor regression. The advancement of the tumor was based on computed tomography (CT) performed before and 6 months after the chemotherapy. Results: The multivariable model revealed red cell distribution width (RDW) from peripheral blood analysis (OR: 0.81, 95% CI: 0.65–1.00, p = 0.049) as a possible predictor for systemic treatment response in colorectal cancer. The receiver operating characteristic curve revealed a predictive value of male sex and RDW prior to systemic therapy, with an area under the curve of 0.672, yielding a sensitivity of 70.0% and specificity of 58.1%. Conclusions: The results of our analysis point out the possible modulatory impact of RDW on six-month systemic therapy in colorectal terminal cancer management. Further studies are required to confirm the presented results. Full article

Background/Objectives: Ultrasound imaging is widely employed to assess kidney health and diagnose renal diseases. Accurate segmentation of renal structures in ultrasound images plays a critical role in the diagnosis and treatment of related kidney diseases. However, challenges such as speckle noise and low contrast still hinder precise segmentation. Methods: In this work, we propose an encoder–decoder architecture, named MAT-UNet, which incorporates two distinct attention mechanisms to enhance segmentation accuracy. Specifically, the multi-convolution pixel-wise attention module utilizes the pixel-wise attention to enable the network to focus more effectively on important features at each stage. Furthermore, the triple-branch multi-head self-attention mechanism leverages the different convolution layers to obtain diverse receptive fields, capture global contextual information, compensate for the local receptive field limitations of convolution operations, and boost the segmentation performance. We evaluate the segmentation performance of the proposed MAT-UNet using the Open Kidney US Data Set (OKUD). Results: For renal capsule segmentation, MAT-UNet achieves a Dice Similarity Coefficient (DSC) of 93.83%, a 95% Hausdorff Distance (HD95) of 32.02 mm, an Average Surface Distance (ASD) of 9.80 mm, and an Intersection over Union (IOU) of 88.74%. Additionally, MAT-UNet achieves a DSC of 84.34%, HD95 of 35.79 mm, ASD of 11.17 mm, and IOU of 74.26% for central echo complex segmentation; a DSC of 66.34%, HD95 of 82.54 mm, ASD of 19.52 mm, and IOU of 51.78% for renal medulla segmentation; and a DSC of 58.93%, HD95 of 107.02 mm, ASD of 21.69 mm, and IOU of 43.61% for renal cortex segmentation. Conclusions: The experimental results demonstrate that our proposed MAT-UNet achieves superior performance in multiple renal structure segmentation in ultrasound images. Full article