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Search Results (8,538)

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16 pages, 1816 KiB  
Article
Association Between Uric Acid to HDL-C Ratio and Liver Transaminase Abnormalities: Insights from a Large-Scale General Population Study
by Abdulaziz M. Almuqrin, Mousa H. Muqri, Ahmed M. Basudan and Yazeed Alshuweishi
Medicina 2025, 61(8), 1417; https://doi.org/10.3390/medicina61081417 - 5 Aug 2025
Abstract
Background and Objectives: The uric acid to HDL-cholesterol ratio (UHR) has recently emerged as a promising biomarker reflecting systemic inflammation and metabolic disturbances. Elevated liver transaminases are clinical indicators of hepatic injury and underlying metabolic dysfunction. Many Middle Eastern countries face constrained [...] Read more.
Background and Objectives: The uric acid to HDL-cholesterol ratio (UHR) has recently emerged as a promising biomarker reflecting systemic inflammation and metabolic disturbances. Elevated liver transaminases are clinical indicators of hepatic injury and underlying metabolic dysfunction. Many Middle Eastern countries face constrained clinical and laboratory resources, where access to comprehensive diagnostic tools may be limited. In such settings, identifying simple and easily accessible markers could offer significant practical value in detecting and monitoring health disorders. This study investigates the potential association between UHR and elevated liver transaminases levels in the Saudi general population. Materials and Methods: This retrospective cross-sectional study included 9618 subjects, and the association between the UHR and elevated liver transaminases, alanine transaminase (ALT), and aspartate transaminase (AST), was comprehensively analysed. In addition, the study assessed risk indicators including the prevalence ratio (PR) and odds ratio (OR) as well as the diagnostic accuracy of UHR and C-reactive protein (CRP) in detecting liver transaminases abnormalities, with analyses stratified by age and gender. Results: UHR was significantly elevated in subjects with increased ALT and AST activities, and this pattern was consistent across all age and gender categories. High UHR was significantly associated with elevated ALT (OR = 2.32, 95% CI: 2.12–2.53, p < 0.001) and AST (OR = 1.38, 95% CI: 1.25–1.52, p < 0.001), with stronger associations observed in males and for ALT activity. In addition, elevated UHR was more prevalent among individuals with increased liver transaminase activities. Receiver operating characteristic (ROC) analysis showed that UHR outperformed CRP in identifying elevated liver transaminases, with better discriminative ability for ALT than AST activity. Conclusions: These findings highlight a significant association between UHR and liver transaminase abnormalities in the general population, underscoring the potential utility of UHR as a simple and accessible indicator for liver function assessment in clinical settings. Full article
(This article belongs to the Section Epidemiology & Public Health)
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16 pages, 390 KiB  
Review
The Role of Quantitative EEG in the Diagnosis of Alzheimer’s Disease
by Vasileios Papaliagkas
Diagnostics 2025, 15(15), 1965; https://doi.org/10.3390/diagnostics15151965 - 5 Aug 2025
Abstract
Alzheimer’s disease is the most prevalent neurodegenerative disorder leading to progressive cognitive decline and functional impairment. Although advanced neuroimaging and cerebrospinal fluid biomarkers have improved early detection, their high costs, invasiveness, and limited accessibility restrict universal screening. Quantitative electroencephalography (qEEG) offers a non-invasive [...] Read more.
Alzheimer’s disease is the most prevalent neurodegenerative disorder leading to progressive cognitive decline and functional impairment. Although advanced neuroimaging and cerebrospinal fluid biomarkers have improved early detection, their high costs, invasiveness, and limited accessibility restrict universal screening. Quantitative electroencephalography (qEEG) offers a non-invasive and cost-effective alternative for assessing neurophysiological changes associated with AD. This review critically evaluates current evidence on EEG biomarkers, including spectral, connectivity, and complexity measures, discussing their pathophysiological basis, diagnostic accuracy, and clinical utility in AD. Limitations and future perspectives, especially in developing standardized protocols and integrating machine learning techniques, are also addressed. Full article
(This article belongs to the Special Issue EEG Analysis in Diagnostics)
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25 pages, 1035 KiB  
Review
Liquid Biopsy and Epigenetic Signatures in AML, ALL, and CNS Tumors: Diagnostic and Monitoring Perspectives
by Anne Aries, Bernard Drénou and Rachid Lahlil
Int. J. Mol. Sci. 2025, 26(15), 7547; https://doi.org/10.3390/ijms26157547 (registering DOI) - 5 Aug 2025
Abstract
To deliver the most effective cancer treatment, clinicians require rapid and accurate diagnoses that delineate tumor type, stage, and prognosis. Consequently, minimizing the need for repetitive and invasive procedures like biopsies and myelograms, along with their associated risks, is a critical challenge. Non-invasive [...] Read more.
To deliver the most effective cancer treatment, clinicians require rapid and accurate diagnoses that delineate tumor type, stage, and prognosis. Consequently, minimizing the need for repetitive and invasive procedures like biopsies and myelograms, along with their associated risks, is a critical challenge. Non-invasive monitoring offers a promising avenue for tumor detection, screening, and prognostication. While the identification of oncogenes and biomarkers from circulating tumor cells or tissue biopsies is currently standard practice for cancer diagnosis and classification, accumulating evidence underscores the significant role of epigenetics in regulating stem cell fate, including proliferation, self-renewal, and malignant transformation. This highlights the importance of analyzing the methylome, exosomes, and circulating RNA for detecting cellular transformation. The development of diagnostic assays that integrate liquid biopsies with epigenetic analysis holds immense potential for revolutionizing tumor management by enabling rapid, non-invasive diagnosis, real-time monitoring, and personalized treatment decisions. This review covers current studies exploring the use of epigenetic regulation, specifically the methylome and circulating RNA, as diagnostic tools derived from liquid biopsies. This approach shows promise in facilitating the differentiation between primary central nervous system lymphoma and other central nervous system tumors and may enable the detection and monitoring of acute myeloid/lymphoid leukemia. We also discuss the current limitations hindering the rapid clinical translation of these technologies. Full article
(This article belongs to the Special Issue Molecular Research in Hematologic Malignancies)
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14 pages, 278 KiB  
Review
Novel Biomarkers for Rejection in Kidney Transplantation: A Comprehensive Review
by Michael Strader and Sam Kant
J. Clin. Med. 2025, 14(15), 5489; https://doi.org/10.3390/jcm14155489 - 4 Aug 2025
Abstract
Kidney transplantation is the treatment of choice for patients with end-stage kidney disease. Despite significant advances in graft survival, rejection continues to pose a major clinical challenge. Conventional monitoring tools, such as serum creatinine, donor-specific antibodies, and proteinuria, lack sensitivity and specificity for [...] Read more.
Kidney transplantation is the treatment of choice for patients with end-stage kidney disease. Despite significant advances in graft survival, rejection continues to pose a major clinical challenge. Conventional monitoring tools, such as serum creatinine, donor-specific antibodies, and proteinuria, lack sensitivity and specificity for early detection of graft injury. Moreover, while biopsy remains the current gold standard for diagnosing rejection, it is prone to confounders, invasive, and associated with procedural risks. However, non-invasive novel biomarkers have emerged as promising alternatives for earlier rejection detection and improved immunosuppression management. This review focuses on the leading candidate biomarkers currently under clinical investigation, with an emphasis on their diagnostic performance, prognostic value, and potential to support personalised immunosuppressive strategies in kidney transplantation. Full article
(This article belongs to the Special Issue Clinical Advancements in Kidney Transplantation)
24 pages, 4384 KiB  
Article
Untargeted Metabolomic Identifies Potential Seasonal Biomarkers of Semen Quality in Duroc Boars
by Notsile H. Dlamini, Serge L. Kameni and Jean M. Feugang
Biology 2025, 14(8), 995; https://doi.org/10.3390/biology14080995 (registering DOI) - 4 Aug 2025
Abstract
High semen quality is vital for reproductive success in the swine industry; however, seasonal fluctuations often compromise this quality. The molecular mechanism underlying these seasonal effects on semen quality remains largely unclear. This study employed untargeted metabolomic profiling of boar seminal plasma (SP) [...] Read more.
High semen quality is vital for reproductive success in the swine industry; however, seasonal fluctuations often compromise this quality. The molecular mechanism underlying these seasonal effects on semen quality remains largely unclear. This study employed untargeted metabolomic profiling of boar seminal plasma (SP) to identify metabolites and metabolic pathways associated with semen quality during the summer and winter months. Semen samples were collected from mature Duroc boars at a commercial boar stud and classified as Passed or Failed based on motility and morphology. SP from five samples per group was analyzed using ultra-high-performance liquid chromatography–mass spectrometry (UHPLC-MS). In total, 373 metabolites were detected in positive ion mode and 478 in negative ion mode. Several differentially expressed metabolites (DEMs) were identified, including ergothioneine, indole-3-methyl acetate, and avocadyne in the summer, as well as LysoPC, dopamine, and betaine in the winter. These metabolites are associated with key sperm functions, including energy metabolism, antioxidant defense, and capacitation. KEGG pathway analysis indicated enrichment in starch and sucrose metabolism, pyrimidine metabolism, and amino acid metabolism across the seasons. Overall, the results reveal that SP metabolomic profiles vary with the season, thereby influencing semen quality. The identified metabolites may serve as potential biomarkers for assessing semen quality and enhancing reproductive efficiency in swine production. Full article
(This article belongs to the Special Issue Reproductive Physiology and Pathology in Livestock)
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13 pages, 745 KiB  
Review
Salivary Biomarkers for Early Detection of Autism Spectrum Disorder: A Scoping Review
by Margherita Tumedei, Niccolò Cenzato, Sourav Panda, Funda Goker and Massimo Del Fabbro
Oral 2025, 5(3), 56; https://doi.org/10.3390/oral5030056 - 4 Aug 2025
Abstract
Background: Autism spectrum disorder (ASD) represents a neurobiological disorder with a high prevalence in the children’s population. The aim of the present review was to assess the current evidence on the use of salivary biomarkers for the early diagnosis of ASD. Materials and [...] Read more.
Background: Autism spectrum disorder (ASD) represents a neurobiological disorder with a high prevalence in the children’s population. The aim of the present review was to assess the current evidence on the use of salivary biomarkers for the early diagnosis of ASD. Materials and methods: A search was conducted on the electronic databases PUBMED/Medline, Google Scholar and Scopus for the retrieval of articles concerning the study topic. Results: A total of 22 studies have been included in the present review considering 21 articles identified from databases and 1 article included using a manual search. A wide range of biomarkers have been proposed for early detection of ASD diseases including nonspecific inflammation markers like interleukin-1β (IL-1β), interleukin-6 (IL-6), interleukin-8 (IL-8), tumor necrosis factor α (TNFα), oxidative stress markers like superoxide dismutase and glutathione peroxidase, hormones such as cortisol and oxytocin, various microRNAs including miR-21, miR-132 and miR-137, and exosomes. The techniques used for biomarke detection may vary according to molecule type and concentration. Conclusions: salivary biomarkers could represent a potential useful tool for the primary detection of several systemic diseases including ASD, taking advantage of non-invasiveness and cost-effective capability compared to other biofluid-based diagnostic techniques. Full article
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18 pages, 876 KiB  
Review
Dormancy in Colorectal Carcinoma: Detection and Therapeutic Potential
by Sofía Fernández-Hernández, Miguel Ángel Hidalgo-León, Carlos Lacalle-González, Rocío Olivera-Salazar, Michael Ochieng’ Otieno, Jesús García-Foncillas and Javier Martinez-Useros
Biomolecules 2025, 15(8), 1119; https://doi.org/10.3390/biom15081119 - 4 Aug 2025
Abstract
Colorectal cancer (CRC) is not only the third most common cancer worldwide, with 1.1 million new cases per year; it is also the second leading cause of cancer death. However, mortality has decreased since 2012 due to early detection programs and better therapeutic [...] Read more.
Colorectal cancer (CRC) is not only the third most common cancer worldwide, with 1.1 million new cases per year; it is also the second leading cause of cancer death. However, mortality has decreased since 2012 due to early detection programs and better therapeutic approaches. While many patients are diagnosed at an early stage, there is up to 50% relapse after optimal initial treatment. Therefore, it is crucial to explore the mechanism underlying the development of recurrences and metastasis. It is known that tumors release dormant cells that escape chemotherapy and nest in a target organ without proliferating. Under certain circumstances that are not yet entirely clear, they can be activated and metastasize. Therefore, the objective of this work is to explore the detailed mechanisms of dormancy, including early detection of recurrence and therapeutic approaches for the treatment of CRC. The specific objectives are to determine biomarkers that may be useful in identifying dormant cells to detect minimal residual disease (MRD) after surgery and predicting disease progression, as well as evaluating biomarkers that are susceptible to therapeutic intervention. Full article
(This article belongs to the Special Issue Novel Molecules for Cancer Treatment (3rd Edition))
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27 pages, 747 KiB  
Review
An Insight into the Disease Prognostic Potentials of Nanosensors
by Nandu K. Mohanan, Nandana S. Mohanan, Surya Mol Sukumaran, Thaikatt Madhusudhanan Dhanya, Sneha S. Pillai, Pradeep Kumar Rajan and Saumya S. Pillai
Inorganics 2025, 13(8), 259; https://doi.org/10.3390/inorganics13080259 - 4 Aug 2025
Abstract
Growing interest in the future applications of nanotechnology in medicine has led to groundbreaking developments in nanosensors. Nanosensors are excellent platforms that provide reliable solutions for continuous monitoring and real-time detection of clinical targets. Nanosensors have attracted great attention due to their remarkable [...] Read more.
Growing interest in the future applications of nanotechnology in medicine has led to groundbreaking developments in nanosensors. Nanosensors are excellent platforms that provide reliable solutions for continuous monitoring and real-time detection of clinical targets. Nanosensors have attracted great attention due to their remarkable sensitivity, portability, selectivity, and automated data acquisition. The exceptional nanoscale properties of nanomaterials used in the nanosensors boost their sensing potential even at minimal concentrations of analytes present in a clinical sample. Along with applications in diverse sectors, the beneficial aspects of nanosensors have been exploited in healthcare systems to utilize their applications in diagnosing, treating, and preventing diseases. Hence, in this review, we have presented an overview of the disease-prognostic applications of nanosensors in chronic diseases through a detailed literature analysis. We focused on the advances in various nanosensors in the field of major diseases such as cancer, cardiovascular diseases, diabetes mellitus, and neurodegenerative diseases along with other prevalent diseases. This review demonstrates various categories of nanosensors with different nanoparticle compositions and detection methods suitable for specific diagnostic applications in clinical settings. The chemical properties of different nanoparticles provide unique characteristics to each nanosensors for their specific applications. This will aid the detection of potential biomarkers or pathological conditions that correlate with the early detection of various diseases. The potential challenges and possible recommendations of the applications of nanosensors for disease diagnosis are also discussed. The consolidated information present in the review will help to better understand the disease-prognostic potentials of nanosensors, which can be utilized to explore new avenues in improved therapeutic interventions and treatment modalities. Full article
(This article belongs to the Section Bioinorganic Chemistry)
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21 pages, 632 KiB  
Review
DNA Methylation in Bladder Cancer: Diagnostic and Therapeutic Perspectives—A Narrative Review
by Dragoş Puia, Marius Ivănuță and Cătălin Pricop
Int. J. Mol. Sci. 2025, 26(15), 7507; https://doi.org/10.3390/ijms26157507 (registering DOI) - 3 Aug 2025
Viewed by 60
Abstract
Bladder cancer pathogenesis is closely linked to epigenetic alterations, particularly DNA methylation and demethylation processes. Environmental carcinogens and persistent inflammatory stimuli—such as recurrent urinary tract infections—can induce aberrant DNA methylation, altering gene expression profiles and contributing to malignant transformation. This review synthesizes current [...] Read more.
Bladder cancer pathogenesis is closely linked to epigenetic alterations, particularly DNA methylation and demethylation processes. Environmental carcinogens and persistent inflammatory stimuli—such as recurrent urinary tract infections—can induce aberrant DNA methylation, altering gene expression profiles and contributing to malignant transformation. This review synthesizes current evidence on the role of DNA methyltransferases (DNMT1, DNMT3a, DNMT3b) and the hypermethylation of key tumour suppressor genes, including A2BP1, NPTX2, SOX11, PENK, NKX6-2, DBC1, MYO3A, and CA10, in bladder cancer. It also evaluates the therapeutic application of DNA-demethylating agents such as 5-azacytidine and highlights the impact of chronic inflammation on epigenetic regulation. Promoter hypermethylation of tumour suppressor genes leads to transcriptional silencing and unchecked cell proliferation. Urine-based DNA methylation assays provide a sensitive and specific method for non-invasive early detection, with single-target approaches offering high diagnostic precision. Animal models are increasingly employed to validate these findings, allowing the study of methylation dynamics and gene–environment interactions in vivo. DNA methylation represents a key epigenetic mechanism in bladder cancer, with significant diagnostic, prognostic, and therapeutic implications. Integration of human and experimental data supports the use of methylation-based biomarkers for early detection and targeted treatment, paving the way for personalized approaches in bladder cancer management. Full article
(This article belongs to the Section Molecular Oncology)
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16 pages, 332 KiB  
Systematic Review
Blood Biomarkers as Optimization Tools for Computed Tomography in Mild Traumatic Brain Injury Management in Emergency Departments: A Systematic Review
by Ángela Caballero Ballesteros, María Isabel Alonso Gallardo and Juan Mora-Delgado
J. Pers. Med. 2025, 15(8), 350; https://doi.org/10.3390/jpm15080350 - 3 Aug 2025
Viewed by 45
Abstract
Background/Objectives: Traumatic brain injury (TBI), especially mild TBI (mTBI), is frequently caused by traffic accidents, falls, or sports injuries. Although computed tomography (CT) is the gold standard for diagnosis, overuse can lead to unnecessary radiation exposure, increased healthcare costs, and emergency department saturation. [...] Read more.
Background/Objectives: Traumatic brain injury (TBI), especially mild TBI (mTBI), is frequently caused by traffic accidents, falls, or sports injuries. Although computed tomography (CT) is the gold standard for diagnosis, overuse can lead to unnecessary radiation exposure, increased healthcare costs, and emergency department saturation. Blood-based biomarkers have emerged as potential tools to optimize CT scan use. This systematic review aims to evaluate recent evidence on the role of specific blood biomarkers in guiding CT decisions in patients with mTBI. Methods: A systematic search was conducted in the PubMed, Cochrane, and CINAHL databases for studies published between 2020 and 2024. Inclusion criteria focused on adult patients with mTBI evaluated using both CT imaging and at least one of the following biomarkers: glial fibrillary acidic protein (GFAP), ubiquitin carboxy-terminal hydrolase L1 (UCH-L1), and S100 calcium-binding protein B (S100B). After screening, six studies were included in the final review. Results: All included studies reported high sensitivity and negative predictive value for the selected biomarkers in detecting clinically relevant intracranial lesions. GFAP and UCH-L1, particularly in combination, consistently identified low-risk patients who could potentially forgo CT scans. While S100B also showed high sensitivity, discrepancies in cutoff values across studies highlighted the need for harmonization. Conclusions: Blood biomarkers such as GFAP, UCH-L1, and S100B demonstrate strong potential to reduce unnecessary CT imaging in mTBI by identifying patients at low risk of significant brain injury. Future research should focus on standardizing biomarker thresholds and validating protocols to support their integration into clinical practice guidelines. Full article
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21 pages, 1147 KiB  
Review
Recent Advances in Developing Cell-Free Protein Synthesis Biosensors for Medical Diagnostics and Environmental Monitoring
by Tyler P. Green, Joseph P. Talley and Bradley C. Bundy
Biosensors 2025, 15(8), 499; https://doi.org/10.3390/bios15080499 - 3 Aug 2025
Viewed by 64
Abstract
Cell-free biosensors harness the selectivity of cellular machinery without living cells’ constraints, offering advantages in environmental monitoring, medical diagnostics, and biotechnological applications. This review examines recent advances in cell-free biosensor development, highlighting their ability to detect diverse analytes including heavy metals, organic pollutants, [...] Read more.
Cell-free biosensors harness the selectivity of cellular machinery without living cells’ constraints, offering advantages in environmental monitoring, medical diagnostics, and biotechnological applications. This review examines recent advances in cell-free biosensor development, highlighting their ability to detect diverse analytes including heavy metals, organic pollutants, pathogens, and clinical biomarkers with high sensitivity and specificity. We analyze technological innovations in cell-free protein synthesis optimization, preservation strategies, and field deployment methods that have enhanced sensitivity, and practical applicability. The integration of synthetic biology approaches has enabled complex signal processing, multiplexed detection, and novel sensor designs including riboswitches, split reporter systems, and metabolic sensing modules. Emerging materials such as supported lipid bilayers, hydrogels, and artificial cells are expanding biosensor capabilities through microcompartmentalization and electronic integration. Despite significant progress, challenges remain in standardization, sample interference mitigation, and cost reduction. Future opportunities include smartphone integration, enhanced preservation methods, and hybrid sensing platforms. Cell-free biosensors hold particular promise for point-of-care diagnostics in resource-limited settings, environmental monitoring applications, and food safety testing, representing essential tools for addressing global challenges in healthcare, environmental protection, and biosecurity. Full article
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10 pages, 586 KiB  
Article
The Role of Systemic Immune-Inflammation Index (SII) in Diagnosing Pediatric Acute Appendicitis
by Binali Firinci, Cetin Aydin, Dilek Yunluel, Ahmad Ibrahim, Murat Yigiter and Ali Ahiskalioglu
Diagnostics 2025, 15(15), 1942; https://doi.org/10.3390/diagnostics15151942 - 2 Aug 2025
Viewed by 119
Abstract
Background and Objectives: Accurately diagnosing acute appendicitis (AA) in children remains clinically challenging due to overlapping symptoms with other pediatric conditions and limitations in conventional diagnostic tools. The systemic immune-inflammation index (SII) has emerged as a promising biomarker in adult populations; however, [...] Read more.
Background and Objectives: Accurately diagnosing acute appendicitis (AA) in children remains clinically challenging due to overlapping symptoms with other pediatric conditions and limitations in conventional diagnostic tools. The systemic immune-inflammation index (SII) has emerged as a promising biomarker in adult populations; however, its utility in pediatrics is still unclear. This study aimed to evaluate the diagnostic accuracy of SII in distinguishing pediatric acute appendicitis from elective non-inflammatory surgical procedures and to assess its predictive value in identifying complicated cases. Materials and Methods: This retrospective, single-center study included 397 pediatric patients (5–15 years), comprising 297 histopathologically confirmed appendicitis cases and 100 controls. Demographic and laboratory data were recorded at admission. Inflammatory indices including SII, neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR) were calculated. ROC curve analysis was performed to evaluate diagnostic performance. Results: SII values were significantly higher in the appendicitis group (median: 2218.4 vs. 356.3; p < 0.001). SII demonstrated excellent diagnostic accuracy for AA (AUROC = 0.95, 95% CI: 0.92–0.97), with 91% sensitivity and 88% specificity at a cut-off > 624. In predicting complicated appendicitis, SII showed moderate discriminative ability (AUROC = 0.66, 95% CI: 0.60–0.73), with 83% sensitivity but limited specificity (43%). Conclusions: SII is a reliable and easily obtainable biomarker for diagnosing pediatric acute appendicitis and may aid in early detection of complicated cases. Its integration into clinical workflows may enhance diagnostic precision, particularly in resource-limited settings. Age-specific validation studies are warranted to confirm its broader applicability. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Pediatric Emergencies—2nd Edition)
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18 pages, 5815 KiB  
Article
Novel Lipid Biomarkers of Chronic Kidney Disease of Unknown Etiology Based on Urinary Small Extracellular Vesicles: A Pilot Study of Sugar Cane Workers
by Jie Zhou, Kevin J. Kroll, Jaime Butler-Dawson, Lyndsay Krisher, Abdel A. Alli, Chris Vulpe and Nancy D. Denslow
Metabolites 2025, 15(8), 523; https://doi.org/10.3390/metabo15080523 - 2 Aug 2025
Viewed by 166
Abstract
Background/Objectives: Chronic kidney disease of unknown etiology (CKDu) disproportionately affects young male agricultural workers who are otherwise healthy. There is a scarcity of biomarkers for early detection of this type of kidney disease. We hypothesized that small extracellular vesicles (sEVs) released into urine [...] Read more.
Background/Objectives: Chronic kidney disease of unknown etiology (CKDu) disproportionately affects young male agricultural workers who are otherwise healthy. There is a scarcity of biomarkers for early detection of this type of kidney disease. We hypothesized that small extracellular vesicles (sEVs) released into urine may provide novel biomarkers. Methods: We obtained two urine samples at the start and the end of a workday in the fields from a limited set of workers with and without kidney impairment. Isolated sEVs were characterized for size, surface marker expression, and purity and, subsequently, their lipid composition was determined by mass spectrometry. Results: The number of particles per ml of urine normalized to osmolality and the size variance were larger in workers with possible CKDu than in control workers. Surface markers CD9, CD63, and CD81 are characteristic of sEVs and a second set of surface markers suggested the kidney as the origin. Differential expression of CD25 and CD45 suggested early inflammation in CKDu workers. Of the twenty-one lipids differentially expressed, several were bioactive, suggesting that they may have essential functions. Remarkably, fourteen of the lipids showed intermediate expression values in sEVs from healthy individuals with acute creatinine increases after a day of work. Conclusions: We identified twenty-one possible lipid biomarkers in sEVs isolated from urine that may be able to distinguish agricultural workers with early onset of CKDu. Differentially expressed surface proteins in these sEVs suggested early-stage inflammation. This pilot study was limited in the number of workers evaluated, but the approach should be further evaluated in a larger population. Full article
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25 pages, 906 KiB  
Review
Evolution and Prognostic Variables of Cystic Fibrosis in Children and Young Adults: A Narrative Review
by Mădălina Andreea Donos, Elena Țarcă, Elena Cojocaru, Viorel Țarcă, Lăcrămioara Ionela Butnariu, Valentin Bernic, Paula Popovici, Solange Tamara Roșu, Mihaela Camelia Tîrnovanu, Nicolae Sebastian Ionescu and Laura Mihaela Trandafir
Diagnostics 2025, 15(15), 1940; https://doi.org/10.3390/diagnostics15151940 - 2 Aug 2025
Viewed by 200
Abstract
Introduction: Cystic fibrosis (CF) is a genetic condition affecting several organs and systems, including the pancreas, colon, respiratory system, and reproductive system. The detection of a growing number of CFTR variants and genotypes has contributed to an increase in the CF population which, [...] Read more.
Introduction: Cystic fibrosis (CF) is a genetic condition affecting several organs and systems, including the pancreas, colon, respiratory system, and reproductive system. The detection of a growing number of CFTR variants and genotypes has contributed to an increase in the CF population which, in turn, has had an impact on the overall statistics regarding the prognosis and outcome of the condition. Given the increase in life expectancy, it is critical to better predict outcomes and prognosticate in CF. Thus, each person’s choice to aggressively treat specific disease components can be more appropriate and tailored, further increasing survival. The objective of our narrative review is to summarize the most recent information concerning the value and significance of clinical parameters in predicting outcomes, such as gender, diabetes, liver and pancreatic status, lung function, radiography, bacteriology, and blood and sputum biomarkers of inflammation and disease, and how variations in these parameters affect prognosis from the prenatal stage to maturity. Materials and methods: A methodological search of the available data was performed with regard to prognostic factors in the evolution of CF in children and young adults. We evaluated articles from the PubMed academic search engine using the following search terms: prognostic factors AND children AND cystic fibrosis OR mucoviscidosis. Results: We found that it is crucial to customize CF patients’ care based on their unique clinical and biological parameters, genetics, and related comorbidities. Conclusions: The predictive significance of more dynamic clinical condition markers provides more realistic future objectives to center treatment and targets for each patient. Over the past ten years, improvements in care, diagnostics, and treatment have impacted the prognosis for CF. Although genotyping offers a way to categorize CF to direct research and treatment, it is crucial to understand that a variety of other factors, such as epigenetics, genetic modifiers, environmental factors, and socioeconomic status, can affect CF outcomes. The long-term management of this complicated multisystem condition has been made easier for patients, their families, and physicians by earlier and more accurate identification techniques, evidence-based research, and centralized expert multidisciplinary care. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Inherited/Genetic Diseases)
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12 pages, 463 KiB  
Article
Association Between BRAF V600E Allele Frequency and Aggressive Behavior in Papillary Thyroid Microcarcinoma
by Luiza Tatar, Saruchi Bandargal, Marc P. Pusztaszeri, Véronique-Isabelle Forest, Michael P. Hier, Jasmine Kouz, Raisa Chowdhury and Richard J. Payne
Cancers 2025, 17(15), 2553; https://doi.org/10.3390/cancers17152553 - 1 Aug 2025
Viewed by 178
Abstract
Background/Objectives: Papillary thyroid microcarcinoma (MPTC), a subset of papillary thyroid carcinoma (PTC), is increasingly detected with advanced imaging. While most MPTCs are indolent, some exhibit aggressive behavior, complicating clinical management. The BRAF V600E mutation, common in PTC, is linked to aggressive features, [...] Read more.
Background/Objectives: Papillary thyroid microcarcinoma (MPTC), a subset of papillary thyroid carcinoma (PTC), is increasingly detected with advanced imaging. While most MPTCs are indolent, some exhibit aggressive behavior, complicating clinical management. The BRAF V600E mutation, common in PTC, is linked to aggressive features, and its allele frequency (AF) may serve as a biomarker for tumor aggressiveness. This study explored the association between BRAF V600E AF and aggressive histopathological features in MPTC. Methods: Data from 1 January 2016 to 23 December 2023 were retrieved from two McGill University teaching hospitals. Inclusion criteria comprised patients aged ≥ 18 years with thyroid nodules ≤ 1 cm, documented BRAF V600E mutation and AF results, and available surgical pathology reports. Tumor aggressiveness was defined as the presence of lymph node metastasis, aggressive histological subtype (tall cell, hobnail, columnar, solid/trabecular or diffuse sclerosing), extra thyroidal extension, or extensive lymphovascular extension. Associations were explored using t-tests. Results: Among 1564 records, 34 met the inclusion criteria and were included in analyses. The mean BRAF V600E AF was significantly higher in aggressive tumors (23.58) compared to non-aggressive tumors (13.73) (95% CI: −18.53 to −1.16, p = 0.03). Although not statistically significant, trends were observed for higher BRAF V600E AF in tumors with lymph node metastasis (mean AF: 25.4) compared to those without (mean AF: 16.67, p = 0.08). No significant difference was noted in BRAF V600E AF by histological subtype (mean AF for aggressive: 19.57; non-aggressive: 19.15, p = 0.94). Conclusions: Elevated BRAF V600E AF is associated with aggressive behavior in MPTC, highlighting its potential as a biomarker to inform treatment strategies. Larger studies are warranted to validate these findings and enhance clinical management of MPTC patients. Full article
(This article belongs to the Special Issue Thyroid Cancer: Diagnosis, Prognosis and Treatment (2nd Edition))
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