Journal of Personalized Medicine最新文献

{"title":"The InterVision Framework: An Enhanced Fine-Tuning Deep Learning Strategy for Auto-Segmentation in Head and Neck.","authors":"Byongsu Choi, Chris J Beltran, Sang Kyun Yoo, Na Hye Kwon, Jin Sung Kim, Justin Chunjoo Park","doi":"10.3390/jpm14090979","DOIUrl":"https://doi.org/10.3390/jpm14090979","url":null,"abstract":"<p><p>Adaptive radiotherapy (ART) workflows are increasingly adopted to achieve dose escalation and tissue sparing under dynamic anatomical conditions. However, recontouring and time constraints hinder the implementation of real-time ART workflows. Various auto-segmentation methods, including deformable image registration, atlas-based segmentation, and deep learning-based segmentation (DLS), have been developed to address these challenges. Despite the potential of DLS methods, clinical implementation remains difficult due to the need for large, high-quality datasets to ensure model generalizability. This study introduces an InterVision framework for segmentation. The InterVision framework can interpolate or create intermediate visuals between existing images to generate specific patient characteristics. The InterVision model is trained in two steps: (1) generating a general model using the dataset, and (2) tuning the general model using the dataset generated from the InterVision framework. The InterVision framework generates intermediate images between existing patient image slides using deformable vectors, effectively capturing unique patient characteristics. By creating a more comprehensive dataset that reflects these individual characteristics, the InterVision model demonstrates the ability to produce more accurate contours compared to general models. Models are evaluated using the volumetric dice similarity coefficient (VDSC) and the Hausdorff distance 95% (HD95%) for 18 structures in 20 test patients. As a result, the Dice score was 0.81 ± 0.05 for the general model, 0.82 ± 0.04 for the general fine-tuning model, and 0.85 ± 0.03 for the InterVision model. The Hausdorff distance was 3.06 ± 1.13 for the general model, 2.81 ± 0.77 for the general fine-tuning model, and 2.52 ± 0.50 for the InterVision model. The InterVision model showed the best performance compared to the general model. The InterVision framework presents a versatile approach adaptable to various tasks where prior information is accessible, such as in ART settings. This capability is particularly valuable for accurately predicting complex organs and targets that pose challenges for traditional deep learning algorithms.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11432789/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348849","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":"Characterization and Automatic Discrimination between Predominant Hypoperfusion and Hyperperfusion Stages of NPDR.","authors":"Luís Mendes, Luísa Ribeiro, Inês Marques, Conceição Lobo, José Cunha-Vaz","doi":"10.3390/jpm14090977","DOIUrl":"https://doi.org/10.3390/jpm14090977","url":null,"abstract":"<p><strong>Background/objectives: </strong>Diabetic retinopathy (DR) is a common diabetes complication that can lead to blindness through vision-threatening complications like clinically significant macular edema and proliferative retinopathy. Identifying eyes at risk of progression using non-invasive methods could help develop targeted therapies to halt diabetic retinal disease progression.</p><p><strong>Methods: </strong>A set of 82 imaging and systemic features was used to characterize the progression of nonproliferative diabetic retinopathy (NPDR). These features include baseline measurements (static features) and those capturing the temporal dynamic behavior of these static features within one year (dynamic features). Interpretable models were trained to distinguish between eyes with Early Treatment Diabetic Retinopathy Study (ETDRS) level 35 and eyes with ETDRS levels 43-47. The data used in this research were collected from 109 diabetic type 2 patients (67.26 ± 2.70 years; diabetes duration 19.6 ± 7.26 years) and acquired over 2 years.</p><p><strong>Results: </strong>The characterization of the data indicates that NPDR progresses from an initial stage of hypoperfusion to a hyperperfusion response. The performance of the classification model using static features achieved an area under the curve (AUC) of the receiver operating characteristics equal to 0.84 ± 0.07, while the model using both static and dynamic features achieved an AUC of 0.91 ± 0.05.</p><p><strong>Conclusion: </strong>NPDR progresses through an initial hypoperfusion stage followed by a hyperperfusion response. Characterizing and automatically identifying this disease progression stage is valuable and necessary. The results indicate that achieving this goal is feasible, paving the way for the improved evaluation of progression risk and the development of better-targeted therapies to prevent vision-threatening complications.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348741","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":"Effects of Haptic Feedback Interventions in Post-Stroke Gait and Balance Disorders: A Systematic Review and Meta-Analysis.","authors":"Maria Gomez-Risquet, Rocío Cáceres-Matos, Eleonora Magni, Carlos Luque-Moreno","doi":"10.3390/jpm14090974","DOIUrl":"https://doi.org/10.3390/jpm14090974","url":null,"abstract":"<p><p><b>Background</b>: Haptic feedback is an established method to provide sensory information (tactile or kinesthetic) about the performance of an activity that an individual can not consciously detect. After a stroke, hemiparesis usually leads to gait and balance disorders, where haptic feedback can be a promising approach to promote recovery. The aim of the present study is to understand its potential effects on gait and balance impairments, both after interventions and in terms of immediate effects. <b>Methods</b>: This research was carried out using the following scientific databases: Embase, Scopus, Web of Science, and Medline/PubMed from inception to May 2024. The Checklist for Measuring quality, PEDro scale, and the Cochrane collaboration tool were used to assess the methodological quality and risk of bias of the studies. <b>Results</b>: Thirteen articles were chosen for qualitative analysis, with four providing data for the meta-analysis. The findings did not yield definitive evidence on the effectiveness of haptic feedback for treating balance and gait disorders following a stroke. <b>Conclusions</b>: Further research is necessary in order to determine the effectiveness of haptic feedback mechanisms, with larger sample sizes and more robust methodologies. Longer interventions and pre-post design in gait training with haptic feedback are necessary.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348733","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":"Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.","authors":"Juan Javier López Rivera, Paula Rueda-Gaitán, Laura Camila Rios Pinto, Diego Alejandro Rodríguez Gutiérrez, Natalia Gomez-Lopera, Julian Lamilla, Fabio Andrés Rojas Aguirre, Laura Bernal Vaca, Mario Arturo Isaza-Ruget","doi":"10.3390/jpm14090975","DOIUrl":"https://doi.org/10.3390/jpm14090975","url":null,"abstract":"<p><strong>Background: </strong>Comprehensive genomic profiling (CGP) identifies genetic alterations and patterns that are crucial for therapy selection and precise treatment development. In Colombia, limited access to CGP tests underscores the necessity of documenting the prevalence of treatable genetic alterations. This study aimed to describe the somatic genetic profile of specific cancer types in Colombian patients and assess its impact on treatment selection.</p><p><strong>Methods: </strong>A retrospective cohort study was conducted at Clínica Colsanitas S.A. from March 2023 to June 2024. Sequencing was performed on the NextSeq2000 platform with the TruSight Oncology 500 (TSO500) assay, which simultaneously evaluates 523 genes for DNA analysis and 55 for RNA; additionally, analyses were performed with the SOPHiA DDM software. The tumor mutational burden (TMB), microsatellite instability (MSI), and programmed cell death ligand 1 (PDL1) were assessed.</p><p><strong>Results: </strong>Among 111 patients, 103 were evaluated, with gastrointestinal (27.93%), respiratory (13.51%), and central nervous system cancers (10.81%) being the most prevalent. TP53 (37%), KMT2C (28%), and KRAS (21%) were frequent mutations. Actionable findings were detected in 76.7% of cases, notably in digestive (20 patients) and lung cancers (8 patients). MSI was stable at 82.52% and high at 2.91%, whilst TMB was predominantly low (91.26%).</p><p><strong>Conclusions: </strong>The test has facilitated access to targeted therapies, improving clinical outcomes in Colombian patients. This profiling test is expected to increase opportunities for personalized medicine in Colombia.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348720","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":"Outcomes of Free Vascularized Fibular Grafts in Treating Massive Forearm Skeletal Defects.","authors":"Panagiotis Konstantinou, Lazaros Kostretzis, Athina Zacharoula Ditsiou, Ioannis Samaras, Pericles Papadopoulos, Konstantinos Ditsios","doi":"10.3390/jpm14090973","DOIUrl":"https://doi.org/10.3390/jpm14090973","url":null,"abstract":"<p><strong>Introduction: </strong>Reconstructing long bone defects in the upper limbs, particularly the radius and ulna, poses significant challenges. These defects, resulting from trauma, tumors, infections, or congenital anomalies, require precise surgical intervention for functional restoration. Traditional non-vascularized autogenous bone grafts have limitations, such as resorption and limited biological activity. To address these challenges, free vascularized fibular grafts (FVFGs) have been developed, offering enhanced recovery by supplying nutrients and structural support, particularly in large defects or compromised vascularity.</p><p><strong>Materials and methods: </strong>This retrospective study reviewed patients with significant forearm skeletal defects treated with FVFGs at our institution from January 2008 to January 2019. Included were patients with radius or ulna defects exceeding 8 cm due to trauma, tumor excision, or non-union fractures. Data on demographics, clinical details, surgical techniques, and outcomes-including graft union time, complications, range of motion, and the disabilities of the arm, shoulder and hand (DASH) scores-were analyzed.</p><p><strong>Results: </strong>Eight patients, with a mean age of 27.6 years and an average defect length of 9.8 cm, were included. All patients achieved graft union within an average of 4 months, with no tumor recurrence or significant complications. Functional outcomes showed mean forearm pronation of 56.9 degrees, supination of 52.5 degrees, and a mean DASH score of 17.7.</p><p><strong>Conclusions: </strong>FVFG is a safe and effective technique for managing complex forearm bone defects, providing high union rates and good functional outcomes. It should be considered a primary option for large forearm skeletal defects.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348796","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":"Minimally Invasive Therapies for Knee Osteoarthritis.","authors":"Uchenna Osuala, Megan H Goh, Arian Mansur, John B Smirniotopoulos, Arielle Scott, Christine Vassell, Bardia Yousefi, Neil K Jain, Alan A Sag, Allison Lax, Kevin W Park, Alexander Kheradi, Marc Sapoval, Jafar Golzarian, Peiman Habibollahi, Osman Ahmed, Shamar Young, Nariman Nezami","doi":"10.3390/jpm14090970","DOIUrl":"https://doi.org/10.3390/jpm14090970","url":null,"abstract":"<p><p>Knee osteoarthritis (KOA) is a musculoskeletal disorder characterized by articular cartilage degeneration and chronic inflammation, affecting one in five people over 40 years old. The purpose of this study was to provide an overview of traditional and novel minimally invasive treatment options and role of artificial intelligence (AI) to streamline the diagnostic process of KOA. This literature review provides insights into the mechanisms of action, efficacy, complications, technical approaches, and recommendations to intra-articular injections (corticosteroids, hyaluronic acid, and plate rich plasma), genicular artery embolization (GAE), and genicular nerve ablation (GNA). Overall, there is mixed evidence to support the efficacy of the intra-articular injections that were covered in this study with varying degrees of supported recommendations through formal medical societies. While GAE and GNA are more novel therapeutic options, preliminary evidence supports their efficacy as a potential minimally invasive therapy for patients with moderate to severe KOA. Furthermore, there is evidentiary support for the use of AI to assist clinicians in the diagnosis and potential selection of treatment options for patients with KOA. In conclusion, there are many exciting advancements within the diagnostic and treatment space of KOA.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11432885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348679","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 Relationship between Surrogate Markers of Insulin Resistance and Occurrence of Colorectal Adenoma in Individuals under 50 Years Old: A Single-Center Retrospective Cross-Sectional Study.","authors":"Chi Hyeon Choi, Sang Yi Moon, Jong Yoon Lee","doi":"10.3390/jpm14090971","DOIUrl":"https://doi.org/10.3390/jpm14090971","url":null,"abstract":"<p><p>(1) Background: Young-onset colorectal adenomas (YOAs) are precursors to early-onset colorectal cancer, a growing concern among individuals under 50 years old. This study investigated the association between surrogate markers of insulin resistance (IR) and YOAs occurrence. (2) Methods: A retrospective cross-sectional analysis was conducted on 4467 individuals aged 20 to 49 years who underwent their first screening colonoscopy at Dong-A University Hospital from 2018 to 2022. IR was assessed using the triglyceride-glucose (TyG) index, triglyceride-to-high-density lipoprotein cholesterol ratio (TG/HDL-C), and metabolic score for insulin resistance (METS-IR). (3) Results: Individuals with YOAs exhibited significantly higher median TyG index (8.51 ± 0.71 vs. 8.32 ± 0.61, <i>p</i> < 0.001), TG/HDL-C ratio (2.78 ± 3.05 vs. 2.12 ± 1.85, <i>p</i> < 0.001), and METS-IR (35.72 ± 8.37 vs. 33.44 ± 9.11, <i>p</i> < 0.001) values than controls. The adjusted odds ratios for YOAs were 1.064 (95% CI: 1.22-2.23, <i>p</i> = 0.021) for the TyG index, 1.067 (95% CI: 1.031-1.105, <i>p</i> < 0.001) for the TG/HDL-C ratio, and 1.011 (95% CI: 1.002-1.021, <i>p</i> = 0.023) for METS-IR values, indicating a strong association between higher IR marker values and the presence of YOAs. (4) Conclusions: Elevated IR marker values are strongly associated with the occurrence of YOAs in individuals under 50 years old.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11432768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348852","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 Precision of Colour Doppler Ultrasonography Combined with Dynamic Infrared Thermography in Perforator Mapping for Deep Inferior Epigastric Perforator Flap Breast Reconstruction.","authors":"Alex Victor Orădan, Alexandru Valentin Georgescu, Andrei Nicolae Jolobai, Gina Iulia Pașca, Alma Andreea Corpodean, Teodora Paula Juncan, Alexandru Ilie-Ene, Maximilian Vlad Muntean","doi":"10.3390/jpm14090969","DOIUrl":"https://doi.org/10.3390/jpm14090969","url":null,"abstract":"<p><p><b>Background</b>: Perforator mapping is a mandatory tool for the preoperative planning of a microsurgical free flap, especially in breast reconstruction. Numerous methods for mapping have been described. In this study, we investigate the combined use of Dynamic Infrared Thermography (DIRT) and Colour Doppler Ultrasonography (CDUS) only to see whether it can eliminate the need for Computed Tomography Angiography (CTA). <b>Methods</b>: A prospective study was conducted on 33 patients with deep inferior epigastric perforator (DIEP) flaps for breast reconstruction. DIRT, followed by CDUS and CTA, was performed preoperatively and perforators were confirmed intraoperatively. <b>Results</b>: From 135 hot spots found on DIRT, 123 perforators were confirmed by CDUS (91.11%). A total of 86.66% of the perforator vessels detected on CTA have their correspondent on DIRT, while 95.12% have their correspondent on CDUS. No statistically significant difference (<i>p</i> > 0.05) was found comparing DIRT vs. CTA and CDU vs. CTA. The average DIRT time was 121.54 s and CDUS 232.09 s. The mean sensitivity for DIRT was 95.72% and 93.16% for CDUS. <b>Conclusion</b>: DIRT combined with CDUS can precisely and efficiently identify suitable perforators without the need for CTA in DIEP breast reconstruction.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433019/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348851","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":"Erythropoietin Reduces Inflammation, Oxidative Stress, and Apoptosis in a Rat Model of Bleomycin-Induced Idiopathic Pulmonary Fibrosis.","authors":"Drosos Tsavlis, Kalliopi Domvri, Konstantinos Porpodis, Stamatia Papoutsopoulou, Doxakis Anestakis, Anna Tzoumaka, Soultana Meditskou, Konstantina Symeonidoy, Evangelia Spandou","doi":"10.3390/jpm14090972","DOIUrl":"https://doi.org/10.3390/jpm14090972","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic pulmonary fibrosis (IPF) is a lethal interstitial disease with unknown etiology and no effective cure, posing a great health burden to society. Erythropoietin (EPO) has been demonstrated to have protective roles in various tissues such as brain, spinal cord, heart, kidney and lung tissues. In this study, we investigate the specific anti-inflammatory, antioxidant and antiapoptotic effects of erythropoietin on lung tissue in a bleomycin-induced rat model of idiopathic pulmonary fibrosis.</p><p><strong>Methods: </strong>Recombinant human EPO or saline was injected, and the animals were monitored for 14 days after bleomycin instillation. Their hematocrit and serum EPO levels were determined. Histological and immunohistochemical analyses were performed.</p><p><strong>Results: </strong>The extent of tissue injury, determined through morphometric analysis, was significantly decreased in size in animals treated with erythropoietin. An immunohistochemical analysis of the expression of cyclooxygenase-2 (COX-2), inducible synthase of nitric oxide (i-NOS), metalloproteinase-9 (MMP-9), erythropoietin receptor (EPO-R), and cytochrome-C (cyt-C) found these enzymes to be decreased in a statistically significant manner in animals treated with erythropoietin when compared to a non-treated group.</p><p><strong>Conclusions: </strong>The reduced expression of COX-2, i-NOS, MMP-9, EPO-R, and i-NOS in the lung tissues of animals treated with EPO indicates the anti-inflammatory, antioxidant and antiapoptotic action of erythropoietin, suggesting its potential therapeutic role in pulmonary fibrosis.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433300/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348756","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":"Clinical Characteristics of Distinct Subgroups of Patients with Primary Sjögren's Syndrome Classified by Serological Profiles: A Comparison Study.","authors":"Erdal Bodakçi","doi":"10.3390/jpm14090967","DOIUrl":"https://doi.org/10.3390/jpm14090967","url":null,"abstract":"<p><p>Sjögren's syndrome (SS) is an autoimmune disease characterized by heterogeneous clinical presentation and the presence of various autoantibodies. This study aimed to determine the differences in clinical findings according to antibody positivity in patients with primary Sjögren syndrome (pSS) in the Turkish population. A retrospective study was conducted and 402 patients (378 women and 24 men) with pSS were analyzed. The patients were categorized into three subgroups based on serological tests. These were (1) quadruple seropositivity (positive for anti-Sjögren's syndrome-related antigen A antibodies (anti-SSA; anti-Ro) and anti-Sjögren's syndrome-related antigen B antibodies (anti-SSB; anti-La), rheumatoid factor (RF), and antinuclear antibody (ANA); (2) double seropositivity (positive for ANA and anti-SSA/Ro antibodies); and (3) quadruple seronegativity (negative for ANA, RF, anti-SSA/Ro and anti-SSB/La antibodies). The number of quadruple-seropositive patients was 72 (18.6%), double-seropositive 174 (43.2%), and quadruple-seronegative was 85 (21.1%). The age at diagnosis of quadruple-seropositive pSS was 42.4 ± 10.8, which was significantly younger than that of patients with double-seropositive and quadruple-seronegative pSS (<i>p</i> = 0.021, <i>p</i> = 0.112). In terms of organ involvement, salivary gland enlargement, arthralgia, arthritis, Raynaud's phenomenon, lymphadenopathy, cutaneous vasculitis, interstitial lung disease, neurological involvement, autoimmune thyroiditis, renal interstitial disease, anemia, leukopenia, hypergammaglobulinemia, and hypocomplementemia were more common in quadruple-seropositive patients with pSS than in quadruple-seronegative patients (<i>p</i> < 0.0001). The results of this study confirmed the strong impact of immunological markers on the pSS phenotype at the time of diagnosis. Immunological patterns play a central role in the phenotypic expression of the disease, even during the initial diagnostic phase, and can guide physicians in designing personalized treatment plans for patients with pSS.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433317/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348746","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}