Diagnostics最新文献

{"title":"Immunohistochemical Evaluation of the Tumor Immune Microenvironment in Pancreatic Ductal Adenocarcinoma.","authors":"Gelu Mihai Breaza, Raluca Maria Closca, Alexandru Cristian Cindrea, Florin Emil Hut, Octavian Cretu, Laurentiu Vasile Sima, Marina Rakitovan, Flavia Zara","doi":"10.3390/diagnostics15050646","DOIUrl":"https://doi.org/10.3390/diagnostics15050646","url":null,"abstract":"<p><p><b>Background</b>: Pancreatic ductal adenocarcinoma is an aggressive neoplasm with a complex carcinogenesis process that must be understood through the interactions between tumor cells and tumor microenvironment cells. <b>Methods</b>: This study was retrospective with a chronological extension period of 16 years and included 56 cases of pancreatic ductal adenocarcinoma. This study identified, quantified, and correlated the cells of the tumor immune microenvironment in pancreatic ductal adenocarcinoma with major prognostic factors as well as overall survival, using an extensive panel of immunohistochemical markers. <b>Results</b>: Three tumor immunotypes were identified: subtype A (hot immunotype), subtype B (intermediate immunotype), and subtype C (cold immunotype). Patients with immunotype C exhibit considerably higher rates of both pancreatic fistulas and acute pancreatitis. Immunotypes B and C significantly increased the risk of this complication by factors of 3.68 (<i>p</i> = 0.002) and 3.94 (<i>p</i> = 0.001), respectively. The estimated probabilities of fistula formation for each immunotype are as follows: 2.5% for immunotype A, 25% for immunotype B, and 28% for immunotype C. There was a statistically significant difference in median survival times according to tumor immunotype (<i>p</i> < 0.001). Specifically, patients with immunotype C tumors had a median survival time of only 120.5 days, compared to 553.5 days for those with immunotype A and 331.5 for immunotype B tumors. <b>Conclusions</b>: The identification of the immunotype of pancreatic ductal adenocarcinoma can be a predictive factor for the occurrence of complications such as pancreatic fistula as well as for overall survival.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 5","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cornea Oculomics: A Clinical Blueprint for Extending Corneal Diagnostics and Artificial Intelligence in Systemic Health Insights.","authors":"Ryung Lee, Rahul Kumar, Alex Weaver, Ji Hyun Kim, Arriyan Raza, Joshua Ong, Ethan Waisberg, Rahul Pandit","doi":"10.3390/diagnostics15050643","DOIUrl":"https://doi.org/10.3390/diagnostics15050643","url":null,"abstract":"<p><p>Oculomics is an emerging field that leverages ophthalmic imaging data to identify biomarkers of systemic disease, facilitating early diagnosis and risk stratification. Despite its growing recognition, gaps remain in the literature regarding the clinical applications of oculomics. Various systemic diseases-including metabolic disorders (e.g., diabetes mellitus), infectious diseases (e.g., COVID-19), neurodegenerative diseases (e.g., dementia), hematologic disorders (e.g., thalassemia), autoimmune conditions (e.g., rheumatoid arthritis), and genetic syndromes (e.g., Fabry disease)-exhibit ocular manifestations detectable through in vivo confocal microscopy and anterior segment optical coherence tomography, among other imaging modalities. Increasing evidence supports the role of corneal imaging in identifying systemic disease biomarkers, a process further enhanced by artificial intelligence-driven analyses. This review synthesizes the current findings on corneal biomarkers of systemic disease, their ophthalmic imaging correlates, and the expanding role of corneal oculomics in translational medicine. Additionally, we explore future directions for integrating oculomics into clinical practice and biomedical research.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 5","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Secure Hybrid Deep Learning for MRI-Based Brain Tumor Detection in Smart Medical IoT Systems.","authors":"Nermeen Gamal Rezk, Samah Alshathri, Amged Sayed, Ezz El-Din Hemdan, Heba El-Behery","doi":"10.3390/diagnostics15050639","DOIUrl":"https://doi.org/10.3390/diagnostics15050639","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Brain tumors are among the most aggressive diseases, significantly contributing to human mortality. Typically, the classification of brain tumors is performed through a biopsy, which is often delayed until brain surgery is necessary. An automated image classification technique is crucial for accelerating diagnosis, reducing the need for invasive procedures and minimizing the risk of manual diagnostic errors being made by radiologists. Additionally, the security of sensitive MRI images remains a major concern, with robust encryption methods required to protect patient data from unauthorized access and breaches in Medical Internet of Things (MIoT) systems. <b>Methods</b>: This study proposes a secure and automated MRI image classification system that integrates chaotic and Arnold encryption techniques with hybrid deep learning models using VGG16 and a deep neural network (DNN). The methodology ensures MRI image confidentiality while enabling the accurate classification of brain tumors and not compromising performance. <b>Results:</b> The proposed system demonstrated a high classification performance under both encryption scenarios. For chaotic encryption, it achieved an accuracy of 93.75%, precision of 94.38%, recall of 93.75%, and an F-score of 93.67%. For Arnold encryption, the model attained an accuracy of 94.1%, precision of 96.9%, recall of 94.1%, and an F-score of 96.6%. These results indicate that encrypted images can still be effectively classified, ensuring both security and diagnostic accuracy. <b>Conclusions:</b> The proposed hybrid deep learning approach provides a secure, accurate, and efficient solution for brain tumor detection in MIoT-based healthcare applications. By encrypting MRI images before classification, the system ensures patient data confidentiality while maintaining high diagnostic performance. This approach can empower radiologists and healthcare professionals worldwide, enabling early and secure brain tumor diagnosis without the need for invasive procedures.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 5","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostication of Follicular Lymphoma: A Review of Prognostic Scores and Factors.","authors":"Ádám Jóna, Evelin Kiss, Árpád Illés","doi":"10.3390/diagnostics15050647","DOIUrl":"https://doi.org/10.3390/diagnostics15050647","url":null,"abstract":"<p><p>Follicular lymphoma (FL) is an indolent, rarely curable B-cell malignancy with a heterogeneous clinical course. While generally treatable, FL is characterized by remissions and relapses, and its clinical presentation varies widely. Rituximab has revolutionized FL treatment, significantly improving overall survival over the past two decades. Risk assessment typically relies on histological grade, tumor burden, and the Follicular Lymphoma International Prognostic Index, which incorporates factors like age, hemoglobin level, and Ann Arbor stage. However, these indices have limitations in fully capturing the clinical variability of FL. Some patients experience indolent disease for extended periods without requiring treatment, while others present with aggressive forms resistant to standard therapies. This review examines various prognostic factors in FL, including the FLIPI, FLIPI2, PRIMA-PI, and m7-FLIPI. The FLIPI, based on five risk factors, stratifies patients into low-, intermediate-, and high-risk groups. The FLIPI2 incorporates beta2-microglobulin and the longest diameter of the largest involved node, offering improved prognostication. The PRIMA-PI, designed for patients receiving rituximab-containing regimens, uses beta2-microglobulin, bone marrow involvement, and the longest diameter of the largest involved node. The m7-FLIPI integrates mutational status with FLIPI2 parameters, further refining risk stratification. The review also discusses clinical parameters like maximum standardized uptake value on PET/CT and lymphocyte/monocyte ratio as prognostic factors. A high SUVmax and low lymphocyte/monocyte ratio identify high-risk patients. While FL remains incurable, advances in immunochemotherapy and targeted therapies have improved outcomes. This review provides a comprehensive overview of prognostic tools in FL, emphasizing the importance of risk stratification for personalized treatment strategies.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 5","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of Epithelial-Mesenchymal Transition in Osteosarcoma Progression: From Biology to Therapy.","authors":"Andrei-Valentin Patrașcu, Elena Țarcă, Ludmila Lozneanu, Carmen Ungureanu, Eugenia Moroșan, Diana-Elena Parteni, Alina Jehac, Jana Bernic, Elena Cojocaru","doi":"10.3390/diagnostics15050644","DOIUrl":"https://doi.org/10.3390/diagnostics15050644","url":null,"abstract":"<p><p>Osteosarcoma (OS) is the most common primary malignant bone tumor, predominantly affecting children, adolescents, and young adults. Epithelial-mesenchymal transition (EMT), a process in which epithelial cells lose their cell-cell adhesion and gain migratory and invasive properties, has been extensively studied in various carcinomas. However, its role in mesenchymal tumors like osteosarcoma remains less explored. EMT is increasingly recognized as a key factor in the progression of osteosarcoma, contributing to tumor invasion, metastasis, and resistance to chemotherapy. This narrative review aims to provide a comprehensive overview of the molecular mechanisms driving EMT in osteosarcoma, highlighting the involvement of signaling pathways such as TGF-β, transcription factors like Snail, Twist, and Zeb, and the role of microRNAs in modulating EMT. Furthermore, we discuss how EMT correlates with poor prognosis and therapy resistance in osteosarcoma patients, emphasizing the potential of targeting EMT for therapeutic intervention. Recent advancements in understanding EMT in osteosarcoma have opened new avenues for treatment, including EMT inhibitors and combination therapies aimed at overcoming drug resistance. By integrating biological insights with clinical implications, this review underscores the importance of EMT as a critical process in osteosarcoma progression and its potential as a therapeutic target.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 5","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparing ChatGPT 4.0's Performance in Interpreting Thyroid Nodule Ultrasound Reports Using ACR-TI-RADS 2017: Analysis Across Different Levels of Ultrasound User Experience.","authors":"Katharina Margherita Wakonig, Simon Barisch, Leonard Kozarzewski, Steffen Dommerich, Markus Herbert Lerchbaumer","doi":"10.3390/diagnostics15050635","DOIUrl":"https://doi.org/10.3390/diagnostics15050635","url":null,"abstract":"<p><p><b>Background/Objectives:</b> This study evaluates ChatGPT 4.0's ability to interpret thyroid ultrasound (US) reports using ACR-TI-RADS 2017 criteria, comparing its performance with different levels of US users. <b>Methods:</b> A team of medical experts, an inexperienced US user, and ChatGPT 4.0 analyzed 100 fictitious thyroid US reports. ChatGPT's performance was assessed for accuracy, consistency, and diagnostic recommendations, including fine-needle aspirations (FNA) and follow-ups. <b>Results:</b> ChatGPT demonstrated substantial agreement with experts in assessing echogenic foci, but inconsistencies in other criteria, such as composition and margins, were evident in both its analyses. Interrater reliability between ChatGPT and experts ranged from moderate to almost perfect, reflecting AI's potential but also its limitations in achieving expert-level interpretations. The inexperienced US user outperformed ChatGPT with a nearly perfect agreement with the experts, highlighting the critical role of traditional medical training in standardized risk stratification tools such as TI-RADS. <b>Conclusions:</b> ChatGPT showed high specificity in recommending FNAs but lower sensitivity and specificity for follow-ups compared to the medical student. These findings emphasize ChatGPT's potential as a supportive diagnostic tool rather than a replacement for human expertise. Enhancing AI algorithms and training could improve ChatGPT's clinical utility, enabling better support for clinicians in managing thyroid nodules and improving patient care. This study highlights both the promise and current limitations of AI in medical diagnostics, advocating for its refinement and integration into clinical workflows. However, it emphasizes that traditional clinical training must not be compromised, as it is essential for identifying and correcting AI-driven errors.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 5","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Performance Comparison of Two In-House PCR Methods for Detecting <i>Neisseria meningitidis</i> in Asymptomatic Carriers and Antimicrobial Resistance Profiling.","authors":"Mekonnen Atimew, Melaku Yidenekachew, Marchegn Yimer, Ashenafi Alemu, Dawit Hailu Alemayehu, Tadelo Wondimagegn, Fitsumbiran Tajebe, Gashaw Adane, Tesfaye Gelanew, Getachew Tesfaye Beyene","doi":"10.3390/diagnostics15050637","DOIUrl":"https://doi.org/10.3390/diagnostics15050637","url":null,"abstract":"<p><p><b>Background/Objective:</b> Bacteriological culture has been a widely used method for the detection of meningococcus, but it has low sensitivity and a long turnaround time. Molecular detection targeting capsule transport A (<i>ctrA)</i> gene has been used, but over 16% of meningococcal carriage isolates lack <i>ctrA</i>, resulting in false-negative reports. The Cu-Zn superoxide dismutase gene (<i>sodC</i>) is specific to <i>N. meningitidis</i>, and is not found in other <i>Neisseria species</i>, making it a useful target for improved detection of non-groupable meningococci without intact <i>ctrA</i>. The primary objective of this study was to evaluate the performance compassion of two in-house PCR methods, <i>sodC</i> gene- and <i>ctrA</i> gene-based PCR assays, for detecting <i>N. meningitidis</i> in asymptomatic carriers. The secondary objective was to assess antimicrobial resistance profiling of <i>N. meningitidis</i> isolates. <b>Methods:</b> The performance of <i>sodC</i> gene-based PCR assay compared to <i>ctrA</i> gene-based PCR for detection of <i>N. meningitidis</i> was evaluated using clinical samples (pharyngeal swabs; <i>n</i> = 137) collected from suspected asymptomatic carriers and culture-confirmed meningococci isolates (<i>n</i> = 49). Additionally, the antimicrobial sensitivity of the 49 isolates against antimicrobial drugs was determined using a disk diffusion test. <b>Result:</b> Of 49 DNA samples from culture-positive <i>N. meningitidis</i> isolates, the <i>sodC</i> gene-based PCR accurately identified all 49, whereas the <i>ctrA</i> gene-based PCR identified only 33 out of 49. Of 137 pharyngeal swabs, the <i>sodC</i> gene-based assay detected <i>N. meningitidis</i> DNA in 105 (76.6%), while the <i>ctrA</i>-based assay detected <i>N. meningitidis</i> DNA in 64 (46.7%). Out of the 49 N. meningitidis isolates, 43 (87.8%) were resistant to amoxicillin, 42 (83.7%) to ampicillin, 32 (65.3%) to trimethoprim-sulfamethoxazole, 22 (44.9%) to ceftazidime, 18 (36.7%) to ceftriaxone, and 7 (15.2%) to meropenem. Additionally, the majority of the isolates, 36 (73.5%), were sensitive to cefepime, 31 (63.3%) to ceftriaxone and meropenem, and 26 (53.1%) to ceftazidime. <b>Conclusions</b>: The findings of this study highlight the necessity of adopting non-capsular <i>sodC</i>-based PCR to replace <i>ctrA</i> in resource-constrained laboratories to improve <i>N. meningitidis</i> detection, and underscore the importance of periodic antimicrobial resistance surveillance to inform and adapt treatment strategies.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 5","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship Between Thyroid Function Tests and Birth Parameters at 41-Week-And-Above Pregnancies: A Prospective Cohort Study.","authors":"Mustafa Can Sivas, Karolin Ohanoglu Cetinel, Ipek Emine Geyikoglu","doi":"10.3390/diagnostics15050641","DOIUrl":"https://doi.org/10.3390/diagnostics15050641","url":null,"abstract":"<p><p><b>Background:</b> In the literature, there is no study investigating the relationship between thyroid hormones in pregnancies at 41 weeks and above and the birth timing, labor duration, frequency of fetal distress, premature rupture of membranes (PROM), and maternal hemogram values. <b>Methods:</b> A total of 68 nulliparous pregnant women who were admitted to Basaksehir Cam and Sakura City Hospital with indications of delivery between August 2023 and January 2024, between the ages of 20 and 38 and with no comorbidities, were included in the study. Pregnant women with ≥41 weeks of gestation were classified as the late-term pregnancy group (<i>n</i> = 37), and those between 37 and 38 weeks were classified as the control group (<i>n</i> = 31). The thyrotropin (TSH), free thyroxine (FT4), and hemoglobin levels and relevant parameters were evaluated. <b>Results:</b> The FT4 values of pregnant women diagnosed with fetal distress in the entire population were observed to be statistically significantly lower (<i>p</i> < 0.05). A statistically significant negative linear relationship was detected between the FT4 values of the entire population and the weights of newborns (<i>p</i> < 0.05). It was determined that, as the FT4 values decreased, the newborn weights increased. There was no statistically significant difference between the two groups in terms of the TSH/FT4 values, birth types, labor duration, or postpartum Hb/Htc decrease (<i>p</i> > 0.05). No statistically significant relationship was found between the TSH/FT4 values of the entire population and the diagnosis of PROM, labor duration, or Hb/Htc decrease amount (<i>p</i> > 0.05). <b>Conclusions:</b> TSH/FT4 levels may be important in the mature and late-mature periods of pregnancy. There may be an association between the FT4 levels and the fetal distress risk, type of birth, and newborn weight.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 5","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Value of Clinical Decision Support in Healthcare: A Focus on Screening and Early Detection.","authors":"Hendrik Schäfer, Nesrine Lajmi, Paolo Valente, Alessandro Pedrioli, Daniel Cigoianu, Bernhard Hoehne, Michaela Schenk, Chaohui Guo, Ruby Singhrao, Deniz Gmuer, Rezwan Ahmed, Maximilian Silchmüller, Okan Ekinci","doi":"10.3390/diagnostics15050648","DOIUrl":"https://doi.org/10.3390/diagnostics15050648","url":null,"abstract":"<p><p>In a rapidly changing technology landscape, \"Clinical Decision Support\" (CDS) has become an important tool to improve patient management. CDS systems offer medical professionals new insights to improve diagnostic accuracy, therapy planning, and personalized treatment. In addition, CDS systems provide cost-effective options to augment conventional screening for secondary prevention. This review aims to (i) describe the purpose and mechanisms of CDS systems, (ii) discuss different entities of algorithms, (iii) highlight quality features, and (iv) discuss challenges and limitations of CDS in clinical practice. Furthermore, we (v) describe contemporary algorithms in oncology, acute care, cardiology, and nephrology. In particular, we consolidate research on algorithms across diseases that imply a significant disease and economic burden, such as lung cancer, colorectal cancer, hepatocellular cancer, coronary artery disease, traumatic brain injury, sepsis, and chronic kidney disease.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 5","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Could PTH/Ca Ratio Serve as a New Marker for Evaluating Bone Metabolism in Hemophilia Patients?","authors":"Tuba Ersal, Fazıl Çağrı Hunutlu, Vildan Gürsoy, Ezel Elgün, Şeyma Yavuz, İpek Dal Akkuş, İlayda Baş, Vildan Özkocaman, Fahir Özkalemkaş","doi":"10.3390/diagnostics15050638","DOIUrl":"https://doi.org/10.3390/diagnostics15050638","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Background/Objectives:&lt;/b&gt; Low bone mineral density (BMD) is common in hemophilia patients. Identifying high-risk patients for low BMD early is essential to prevent complications and reduce morbidity. The parathyroid hormone (PTH)/calcium (Ca) ratio is a cost-effective marker for predicting BMD, highlighting the need for routine screening and early intervention in this population. Hemophilia is a hereditary bleeding disorder caused by deficiencies in clotting factors VIII (hemophilia A) and IX (hemophilia B). Patients with hemophilia are at risk of low bone mineral density (BMD). This study aimed to evaluate the prevalence of low BMD, associated risk factors, and raise awareness regarding its significance in hemophilia patients. &lt;b&gt;Methods:&lt;/b&gt; We retrospectively assessed bone metabolism in 62 hemophilia patients followed at our center. BMD was evaluated using dual-energy X-ray absorptiometry (DEXA). Additionally, serum levels of 25-OH-D3, alkaline phosphatase, PTH, Ca, phosphor, and creatinine were measured. The PTH/Ca, PTH/25-OH-D3, and Ca×25-OH-D3/PTH ratios were calculated. &lt;b&gt;Results:&lt;/b&gt; The median age of the 62 patients with hemophilia included in the study (hemophilia A: 87.1%, hemophilia B: 12.9%) was 37 years (range: 21-66), and all were male. Of these patients, 67.7% (&lt;i&gt;n&lt;/i&gt; = 42) had severe, 21% (&lt;i&gt;n&lt;/i&gt; = 13) had moderate, and 11.3% (&lt;i&gt;n&lt;/i&gt; = 7) had mild hemophilia. A total of 85.5% of patients were on factor prophylaxis, and 75.4% had a target joint. In laboratory analysis, the median 25-OH-D3 level was 13.4 µg/L and 75% patients had 25-OH-D3 deficiency. According to DEXA results, 62.9% had lower than normal BMD. When we divided the patients into normal and low BMD groups according to DEXA results, weight (&lt;i&gt;p&lt;/i&gt; = 0.006), height (&lt;i&gt;p&lt;/i&gt; = 0.024), factor levels (&lt;i&gt;p&lt;/i&gt; = 0.004), PTH (&lt;i&gt;p&lt;/i&gt; = 0.010), AST (&lt;i&gt;p&lt;/i&gt; = 0.029), and PTH/Ca (&lt;i&gt;p&lt;/i&gt; = 0.011) levels were statistically significantly different between the groups. The severity of the disease and the rate of receiving prophylaxis were higher in the group with low BMD (&lt;i&gt;p&lt;/i&gt; = 0.015, &lt;i&gt;p&lt;/i&gt; = 0.006, respectively). In multivariate analysis, PTH/Ca ratio and weight were found to be independent risk factors for BMD. A linear relationship was found between PTH/Ca ratio and BMD. The optimal cut-off value for PTH/Ca was 6.57, with a selectivity of 65% and specificity of 82%. When we divided the patients into groups according to the cut-off value of 6.57, we found that the probability of low BMD increased approximately 7-fold in the group with PTH/Ca &gt; 6.57 (OR 7.045, 95% CI 1.485-33.42, &lt;i&gt;p&lt;/i&gt; = 0.014). There was an inverse association between patient weight and low BMD (&lt;i&gt;p&lt;/i&gt; = 0.043). &lt;b&gt;Conclusions:&lt;/b&gt; Low BMD is a critical public health concern frequently observed in patients with hemophilia. The study highlights a high rate of low BMD and 25-OH-D3 deficiency in hemophilia patients, with the PTH/Ca ratio shown to be useful in predicting BMD. The ","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 5","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}