Diagnostics最新文献

{"title":"New Generation of Clinical Epigenetics Analysis and Diagnosis for Precision Medicine.","authors":"Pengtao Song, Biaoru Li","doi":"10.3390/diagnostics15121539","DOIUrl":"10.3390/diagnostics15121539","url":null,"abstract":"<p><p>Following the application of epigenetic and epigenomics research into tumor diseases, cardiovascular disease, diabetes, hereditary diseases, and rare diseases, in vitro diagnostics (IVD) epigenetic and epigenomics are increasingly employed for those patients. Here, we review a clinical sampling of epigenetics and epigenomics from patients. We then present procedures, including the detection procedure of clinical epigenetic approaches from clinical samples, clinical epigenomic methods applied to those samples, the small cell number of epigenetics, and epigenomics. Finally, we present the current IVD of epigenetics and epigenomics used for clinical analysis and diagnosis, along with the development of approaches. To improve clinical study and diagnosis, we also introduce clinical research and clinical applications to develop a more comprehensive strategy to maximize the sensitivity and specificity of the epigenetics and epigenomics analysis and diagnosis.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 12","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Constipation and Geriatric Depressive Symptoms: Cross-Sectional Analysis Using Baseline Data from the JUSTICE-TOKYO Prospective Cohort Study.","authors":"Hiroyuki Kiko, Daisuke Asaoka, Osamu Nomura, Yusuke Nomoto, Koji Sugano, Kei Matsuno, Yasuhiro Homma, Yuji Nishizaki, Naotake Yanagisawa, Tsutomu Takeda, Daiki Abe, Shotaro Oki, Nobuyuki Suzuki, Yoichi Akazawa, Kumiko Ueda, Hiroya Ueyama, Mariko Hojo, Akihito Nagahara, Hiroyuki Isayama, Katsumi Miyauchi","doi":"10.3390/diagnostics15121537","DOIUrl":"10.3390/diagnostics15121537","url":null,"abstract":"<p><p><b>Objective:</b> To clarify the relationship between constipation and depressive symptoms among the elderly. <b>Methods:</b> This single-center, cross-sectional study was performed using baseline data obtained at the time of enrollment in the prospective cohort of the JUSTICE-TOKYO study. Participants underwent assessments including patient profiling, drug use history, the Mini-Mental State Examination (MMSE), the Geriatric Depression Scale 15 (GDS-15), gastrointestinal-related quality of life (QOL), and the constipation scoring system (CSS). Geriatric depressive symptoms were evaluated based on GDS-15. We investigated correlations between GDS-15 scores and various abdominal symptoms and assessed risk factors for geriatric depressive symptoms using multiple regression analysis. <b>Results:</b> A total of 984 elderly participants (57% female, mean age 78.1 ± 6.1 year) were included. The GDS-15 scores were significantly correlated with body mass index (BMI) (r = -0.056) and MMSE (r = -0.092), reflex-related QOL (r = 0.253), pain-related QOL (r = 0.229), fullness-related QOL (r = 0.269), constipation-related QOL (r = 0.329), diarrhea-related QOL (r = 0.264), and CSS (r = 0.285) scores. Multiple regression analysis indicated that BMI (β = -0.069, <i>p</i> = 0.020) and MMSE (β = -0.074, <i>p</i> = 0.013), constipation-related QOL (β = 0.136, <i>p</i> = 0.002), reflex-related QOL (β = 0.126, <i>p</i> < 0.001), diarrhea-related QOL (β = 0.095, <i>p</i> = 0.006), and CSS (β = 0.098, <i>p</i> = 0.016) scores were significantly correlated with GDS-15 scores. <b>Conclusions:</b> Depressive symptoms among older individuals are associated with various abdominal symptoms, particularly constipation. However, the causality between depressive symptoms and constipation cannot be inferred due to the study's cross-sectional design.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 12","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192452/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of ADMIRE, SAFIRE, and Filtered Back Projection in Standard and Low-Dose Non-Enhanced Head CT.","authors":"Georg Gohla, Anja Örgel, Uwe Klose, Andreas Brendlin, Malte Niklas Bongers, Benjamin Bender, Deborah Staber, Ulrike Ernemann, Till-Karsten Hauser, Christer Ruff","doi":"10.3390/diagnostics15121541","DOIUrl":"10.3390/diagnostics15121541","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Iterative reconstruction (IR) techniques were developed to address the shortcomings of filtered back projection (FBP), yet research comparing different types of IR is still missing. This work investigates how reducing radiation dose influences both image quality and noise profiles when using two iterative reconstruction techniques-Sinogram-Affirmed Iterative Reconstruction (SAFIRE) and Advanced Modeled Iterative Reconstruction (ADMIRE)-in comparison to filtered back projection (FBP) in non-enhanced head CT (NECT). <b>Methods</b>: In this retrospective single-center study, 21 consecutive patients underwent standard NECT on a 128-slice CT scanner. Raw data simulated dose reductions to 90% and 70% of the original dose via ReconCT software. For each dose level, images were reconstructed with FBP, SAFIRE 3, and ADMIRE 3. Image noise power spectra quantified objective image noise. Two blinded neuroradiologists scored overall image quality, image noise, image contrast, detail, and artifacts on a 10-point Likert scale in a consensus reading. Quantitative Hounsfield unit (HU) measurements were obtained in white and gray matter regions. Statistical analyses included the Wilcoxon signed-rank test, mixed-effects modeling, ANOVA, and post hoc pairwise comparisons with Bonferroni correction. <b>Results</b>: Both iterative reconstructions significantly reduced image noise compared to FBP across all dose levels (<i>p</i> < 0.001). ADMIRE exhibited superior image noise suppression at low (<0.51 1/mm) and high (>1.31 1/mm) spatial frequencies, whereas SAFIRE performed better in the mid-frequency range (0.51-1.31 1/mm). Subjective scores for overall quality, image noise, image contrast, and detail were higher for ADMIRE and SAFIRE versus FBP at the original dose and simulated doses of 90% and 70% (all <i>p</i> < 0.001). ADMIRE outperformed SAFIRE in artifact reduction (<i>p</i> < 0.001), while SAFIRE achieved slightly higher image contrast scores (<i>p</i> < 0.001). Objective HU values remained stable across reconstruction methods, although SAFIRE yielded marginally higher gray and white matter (WM) attenuations (<i>p</i> < 0.01). <b>Conclusions</b>: Both IR techniques-ADMIRE and SAFIRE-achieved substantial noise reduction and improved image quality relative to FBP in non-enhanced head CT at standard and reduced dose levels on the specific CT system and reconstruction strength tested. ADMIRE showed enhanced suppression of low- and high-frequency image noise and fewer artifacts, while SAFIRE preserved image contrast and reduced mid-frequency noise. These findings support the potential of iterative reconstruction to optimize radiation dose in NECT protocols in line with the ALARA principle, although broader validation in multi-vendor, multi-center settings is warranted.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 12","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>Klebsiella pneumoniae</i> Invasive Liver Abscess Syndrome (Klas/Ilas)-Experience of a Single Center and Up-to-Date Review of the Literature.","authors":"Octavian Enciu, Elena-Adelina Toma, Valentin Calu, Dumitru Cătălin Pîrîianu, Andrei Ludovic Poroșnicu, Adrian Miron, Mircea Ioan Popa","doi":"10.3390/diagnostics15121533","DOIUrl":"10.3390/diagnostics15121533","url":null,"abstract":"<p><p><b>Background</b>: <i>Klebsiella pneumoniae</i> liver abscess (KLAS) is a potentially life-threatening condition with variable outcomes. Identifying risk factors for mortality is crucial for improving patient management. We aimed to analyze factors associated with in-hospital mortality in a cohort of patients with KLAS and review current diagnostic and treatment challenges. <b>Methods</b>: We retrospectively analyzed clinical, laboratory, microbiological, and treatment data from 20 patients admitted with KLAS. Patients were divided into survivor (<i>n</i> = 15) and non-survivor (<i>n</i> = 5) groups. Univariate analyses were performed using appropriate statistical tests to compare groups and identify mortality-related factors. <b>Results</b>: The overall in-hospital mortality rate was 25.0% (5/20). Factors significantly associated with mortality included undergoing laparotomy drainage (60.0% vs. 6.7%, <i>p</i> = 0.018) and developing in-hospital complications (80.0% vs. 6.7%, <i>p</i> = 0.002). Laparoscopic drainage was significantly associated with survival (93.3% vs. 40.0%, <i>p</i> = 0.026). Trends toward increased mortality were observed with diabetes mellitus and higher glucose levels at admission. Despite <i>p</i>-values < 0.05 from prior Fisher's exact test, and the fact that ESBL positivity (OR = 22, 95% CI 0.86-571.32) and septic shock at admission (OR = 16.08, 95% CI 0.75-343.64) showed a very high point estimate for risk of mortality, the association was not statistically significant in our study. <b>Conclusions</b>: Mortality in this KLAS cohort was considerable. The necessity for open drainage and the development of in-hospital complications emerged as significant predictors of death, while other independent risk factor such as diabetes mellitus, high blood glucose levels at admission, septic shock at admission, and ESBL-positive strains indicated a trend towards unfavorable outcomes. These findings underscore the importance of aggressive sepsis management and addressing antimicrobial resistance. Conflicting results regarding the statistical significance of independent risk factors due to a limited sample size highlight the need for larger studies to confirm these findings.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 12","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12191779/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders.","authors":"Mauricio Arcos-Burgos, Mauricio Arcos-Holzinger, Claudio Mastronardi, Mario A Isaza-Ruget, Jorge I Vélez, Donald P Lewis, Hardip Patel, Brett A Lidbury","doi":"10.3390/diagnostics15121542","DOIUrl":"10.3390/diagnostics15121542","url":null,"abstract":"<p><p><b>Background/Objectives:</b> The aetiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a chronic and severe debilitating disease with a complex phenotype, remains elusive. Associations with infectious diseases and autoimmune and neuropsychiatric disorders have been observed, without the identification of mechanisms. Previous studies suggest that genetic predisposition plays a role, but results are difficult to replicate, with Genome-Wide Association Studies of ME/CFS being challenging due to the relative rareness and heterogeneity of the disorder. <b>Methods:</b> We studied a well-defined Australian patient cohort diagnosed via the International Consensus Criteria, recruited by a specialist ME/CFS clinic. The whole-exome sequences of 77 patients were contrasted against genome variation in the 1000 Genome Project's genome-matched population. <b>Results:</b> Significant associations with ME/CFS were harboured in genes that belong to the Neuroblastoma Breakpoint Family encoding Olduvai (DUF1220) domains, namely <i>NBPF1</i> (rs3897177, <i>p</i>-value = 3.15 × 10^-8)<i>, NBPF10</i> (rs1553120233, <i>p</i>-value = 9.262 × 10^-13), and <i>NBPF16</i> (rs200632836, <i>p</i>-value = 1.04 × 10^-6). Other significantly associated variants were detected in the <i>ATR</i>, <i>RSPH10B</i>, <i>ADGRE5-CD97</i>, and <i>NTRK2</i> genes, among others. Replication of these results was attempted via a GWAS on raw data from a US cohort, which confirmed shared significant associations with variation identified in the <i>PTPRD</i>, <i>CSMD3</i>, <i>RAPGEF5</i>, <i>DCC</i>, <i>ALDH18A1</i>, <i>GALNT16</i>, <i>UNC79</i>, and <i>NCOA3</i> genes. <b>Conclusions:</b> These genes are involved in cortical neurogenesis, brain evolution, and neuroblastoma, and have been implicated by several studies in schizophrenia and autism. The sharing of these associations by the two cohorts supports their validity and grants the necessity of future studies to evaluate the implications for ME/CFS aetiology.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 12","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12191824/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Effect of Systemic Inflammation on Newborns: The Prognostic Value of the Aggregate Systemic Inflammation Index (AISI) and Systemic Inflammatory Response Index (SIRI).","authors":"Samet Kırat","doi":"10.3390/diagnostics15121544","DOIUrl":"10.3390/diagnostics15121544","url":null,"abstract":"<p><p><b>Objective:</b> This study aimed to investigate the prognostic value of two novel systemic inflammatory indices-the Aggregate Systemic Inflammation Index (AISI) and the Systemic Inflammatory Response Index (SIRI)-in predicting preterm delivery and associated neonatal outcomes. <b>Methods:</b> A retrospective, descriptive, cross-sectional study was conducted using the electronic health records of 1056 pregnant women admitted to a tertiary university hospital between 2020 and 2025. Pregnancies were classified into preterm (<i>n</i> = 528) and term (<i>n</i> = 528) groups. Demographic, obstetric, neonatal, and laboratory data were analyzed. <b>Results:</b> The AISI and SIRI values in the first trimester and at admission were significantly higher in the preterm delivery group than in the term delivery group (<i>p</i> < 0.001). Elevated AISI and SIRI levels correlated with lower 1st- and 5th-minute APGAR scores (<i>p</i> < 0.001) and higher neonatal intensive care unit (NICU) admission rates (35.8% vs. 4.5%; <i>p</i> < 0.001). The AISI cut-offs were 399.2 for preterm delivery (59.7% sensitivity, 59.8% specificity), 558.8 for NICU admission (79.3% sensitivity, 79.2% specificity), 694.0 for RDS (87.8% sensitivity, 87.8% specificity), 602.1 for sepsis (79.6% sensitivity, 79.2% specificity), and 753.8 for congenital pneumonia (81.6% sensitivity, 81.9% specificity). The SIRI cut-offs were 1.7 for preterm delivery (59.1% sensitivity, 58.9% specificity), 2.4 for NICU admission (81.7% sensitivity, 81.6% specificity), 3.1 for RDS (89.0% sensitivity, 89.5% specificity), 3.0 for sepsis (85.8% sensitivity, 85.7% specificity), and 3.4 for congenital pneumonia (85.7% sensitivity, 83.8% specificity). <b>Conclusions:</b> The AISI and SIRI showed significant predictive utility for neonatal morbidity in preterm delivery. The use of these markers in clinical practice may improve neonatal outcomes by enhancing the early diagnosis and management of high-risk pregnancies.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 12","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192480/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Challenging Management of Short Bowel Syndrome.","authors":"Ismini Kountouri, Afroditi Faseki, Alexandra Panagiotou, Christina Sevva, Ioannis Katsarelas, Dimitrios Chatzinas, Konstantinos Papadopoulos, Vasilis Stergios, Stylianos Mantalovas, Vasileios Alexandros Karakousis, Panagiotis Nachopoulos, Athanasios Polychronidis, Mohammad Husamieh, Christos Gkogkos, Marios Dagher, Panagiota Roulia, Amyntas Giotas, Miltiadis Chandolias, Periklis Dimasis, Dimitra Manolakaki, Isaak Kesisoglou, Nikolaos Gkiatas","doi":"10.3390/diagnostics15121532","DOIUrl":"10.3390/diagnostics15121532","url":null,"abstract":"<p><p>A 62-year-old female presented to the Emergency Department of the General Hospital of Katerini, Greece, complaining of abdominal pain, fever, and general discomfort. Laboratory tests indicated an elevated white blood cell count and an elevated C-reactive protein level. A computed tomography (CT) scan revealed dilated small bowel loops and free intraperitoneal fluid. During laparotomy, extensive ischemia and necrosis of both the small and large bowel were discovered, and a resection of the small bowel and the right colon was performed, leaving the patient with only 90 cm of small intestine and a jejunocolic anastomosis. Postoperative management was particularly challenging, requiring a multidisciplinary approach, an intensive care unit stay, reoperations due to anastomotic leaks, continuous parenteral nutrition and electrolyte management, and aggressive antibiotic treatment for persistent bacterial infections. This case report highlights the importance of appropriate management of this life-threatening complication following extensive bowel resection.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 12","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12191585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Shinohara et al. Relationship Between Diaphragm Function and Sarcopenia Assessed by Ultrasound: A Cross-Sectional Study. <i>Diagnostics</i> 2025, <i>15</i>, 90.","authors":"Takahiro Shinohara, Toru Yamada, Shuji Ouchi, Suguru Mabuchi, Ryoichi Hanazawa, Kazuharu Nakagawa, Kanako Yoshimi, Tatsuya Mayama, Ayane Horike, Kenji Toyoshima, Yoshiaki Tamura, Atsushi Araki, Haruka Tohara, Akihiro Hirakawa, Takuma Kimura, Takeshi Ishida, Masayoshi Hashimoto","doi":"10.3390/diagnostics15121522","DOIUrl":"10.3390/diagnostics15121522","url":null,"abstract":"<p><p>Upon reviewing our original publication [...].</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 12","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12191985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of ChatGPT in Dermatology Diagnostics.","authors":"Ziad Khamaysi, Mahdi Awwad, Badea Jiryis, Naji Bathish, Jonathan Shapiro","doi":"10.3390/diagnostics15121529","DOIUrl":"10.3390/diagnostics15121529","url":null,"abstract":"<p><p>Artificial intelligence (AI), especially large language models (LLMs) like ChatGPT, has disrupted different medical disciplines, including dermatology. This review explores the application of ChatGPT in dermatological diagnosis, emphasizing its role in natural language processing (NLP) for clinical data interpretation, differential diagnosis assistance, and patient communication enhancement. ChatGPT can enhance a diagnostic workflow when paired with image analysis tools, such as convolutional neural networks (CNNs), by merging text and image data. While it boasts great capabilities, it still faces some issues, such as its inability to perform any direct image analyses and the risk of inaccurate suggestions. Ethical considerations, including patient data privacy and the responsibilities of the clinician, are discussed. Future perspectives include an integrated multimodal model and AI-assisted framework for diagnosis, which shall improve dermatology practice.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 12","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12191462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal Relationship Between Cerebrospinal Fluid Metabolites and Intervertebral Disc Disease: A Bidirectional Mendelian Randomization Study.","authors":"Jiheng Xiao, Tianyi Xia, Xianglong Zhou, Xin Xing, Yanbin Zhu, Yingze Zhang, Liming Xiong","doi":"10.3390/diagnostics15121526","DOIUrl":"10.3390/diagnostics15121526","url":null,"abstract":"<p><p><b>Background:</b> Intervertebral disc degeneration (IVDD) is caused by an imbalance between the catabolic and anabolic processes within intervertebral disc tissue. Several studies have suggested a potential association between cerebrospinal fluid metabolites (CFMs) and the development of IVDD. However, the existing evidence on the relationship between CFM and IVDD is limited and inconsistent. <b>Methods:</b> The data on 338 cerebrospinal fluid metabolites and intervertebral disc degeneration analyzed in this study were sourced from their respective genome-wide association studies (GWAS). MR analysis employed single nucleotide polymorphisms (SNPs) closely associated with disease as instrumental variables (IVs). The inverse variance weighted (IVW) method was employed as the primary statistical approach, complemented by MR-Egger, the Weighted median, Simple mode, and the Weighted mode for result validation. Comprehensive sensitivity analyses were performed to confirm the robustness of the results and assess for heterogeneity and horizontal pleiotropy. <b>Results:</b> Using the IVW method, this study revealed positive causal effects between 11 cerebrospinal fluid metabolites (CFMs) and intervertebral disc degeneration (IVDD), indicating that elevated levels of these 11 CFMs increase the risk of IVDD. Conversely, negative causal effects were identified for 6 CFMs, suggesting that higher levels of these CFMs have a protective effect against IVDD. Reverse MR analysis indicated 1 positive and 18 negative causal relationships between IVDD and CFMs. <b>Conclusions:</b> Our bidirectional Mendelian analysis provides compelling evidence of a causal relationship between CFMs and IVDD. These findings enhance our understanding of IVDD pathogenesis and highlight the potential for preventive therapies targeting CFMs. Further research is needed to clarify the mechanisms of these CFMs on IVDD.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 12","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12191516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}