Journal of Personalized Medicine最新文献

{"title":"The Carotid Siphon as a Pulsatility Modulator for Brain Protection: Role of Arterial Calcification Formation.","authors":"Pim A de Jong, Daniel Bos, Huiberdina L Koek, Pieter T Deckers, Netanja I Harlianto, Ynte M Ruigrok, Wilko Spiering, Jaco Zwanenburg, Willem P Th M Mali","doi":"10.3390/jpm15080356","DOIUrl":"10.3390/jpm15080356","url":null,"abstract":"<p><p>A healthy vasculature with well-regulated perfusion and pulsatility is essential for the brain. One vascular structure that has received little attention is the carotid siphon. The proximal portion of the siphon is stiff due to the narrow location in the skull base, whilst the distal portion is highly flexible. This flexible part in combination with the specific curves lead to lower pulsatility at the cost of energy deposition in the arterial wall. This deposited energy contributes to damage and calcification. Severe siphon calcification stiffens the distal part of the siphon, leading to less damping of the pulsatility. Increased blood flow pulsatility is a possible cause of stroke and cognitive disorders. In this review, based on comprehensive multimodality imaging, we first describe the anatomy and physiology of the carotid siphon. Subsequently, we review the in vivo imaging data, which indeed suggest that the siphon attenuates pulsatility. Finally, the data as available in the literature are shown to provide convincing evidence that severe siphon calcifications and the calcification pattern are linked to incident stroke and dementia. Interventional studies are required to test whether this association is causal and how an assessment of pulsatility and the siphon calcification pattern can improve personalized medicine, working to prevent and treat brain disease.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958371","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":"Anteroposterior Diameter Is Associated with Conversion from Right Minithoracotomy to Median Sternotomy in Minimally Invasive Cardiac Surgery.","authors":"Quynh Nguyen, Durr Al-Hakim, Richard C Cook","doi":"10.3390/jpm15080353","DOIUrl":"10.3390/jpm15080353","url":null,"abstract":"<p><p><b>Background</b>: Minimally invasive cardiac surgery (MICS) via right minithoracotomy is a safe, reproducible approach with excellent outcomes and reduced costs compared to median sternotomy. Despite careful patient selection, conversion to sternotomy occurs in 1-3% of cases and is associated with significantly higher morbidity and mortality. Small body habitus, particularly a short anteroposterior (AP) diameter, may increase the risk of conversion, but this has not been previously studied. This study aims to identify preoperative factors associated with conversion to improve patient selection for MICS. As cardiovascular surgery becomes increasingly personalized, identifying anatomical factors that predict technical complexity is essential. <b>Methods</b>: This retrospective study included 254 adult patients who underwent elective MICS between 2015 and 2024 at a tertiary hospital. Patient characteristics, computed tomography (CT) scans, intraoperative parameters, and postoperative outcomes were reviewed. AP diameter was defined as the distance from the posterior sternum to the anterior vertebral body at the mitral valve level on CT. Statistical analyses included Mann-Whitney and Fisher's exact/chi-square tests. <b>Results</b>: Conversion to sternotomy occurred in 1.6% of patients (n = 4). All converted patients were female. The converted group had a significantly shorter median AP diameter (100 mm vs. 124 mm, <i>p</i> = 0.020). Conversion was associated with higher rates of stroke and infection (25.0% vs. 0.8%, <i>p</i> = 0.047 for both), but no significant differences in hospital stay, bleeding, or renal failure. <b>Conclusions:</b> An AP diameter of less than 100 mm was associated with a higher risk of conversion to sternotomy in MICS. Incorporating simple, reproducible preoperative imaging metrics into surgical planning may advance precision-guided cardiac surgery and optimize patient outcomes.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958017","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":"Behavioural Cardiology: A Review on an Expanding Field of Cardiology-Holistic Approach.","authors":"Christos Fragoulis, Maria-Kalliopi Spanorriga, Irini Bega, Andreas Prentakis, Evangelia Kontogianni, Panagiotis-Anastasios Tsioufis, Myrto Palkopoulou, John Ntalakouras, Panagiotis Iliakis, Ioannis Leontsinis, Kyriakos Dimitriadis, Dimitris Polyzos, Christina Chrysochoou, Antonios Politis, Konstantinos Tsioufis","doi":"10.3390/jpm15080355","DOIUrl":"10.3390/jpm15080355","url":null,"abstract":"<p><p>Cardiovascular disease (CVD) remains Europe's leading cause of mortality, responsible for >45% of deaths. Beyond established risk factors (hypertension, diabetes, dyslipidaemia, smoking, obesity), psychosocial elements-depression, anxiety, financial stress, personality traits, and trauma-significantly influence CVD development and progression. Behavioural Cardiology addresses this connection by systematically incorporating psychosocial factors into prevention and rehabilitation protocols. This review examines the HEARTBEAT model, developed by Greece's first Behavioural Cardiology Unit, which aligns with current European guidelines. The model serves dual purposes: primary prevention (targeting at-risk individuals) and secondary prevention (treating established CVD patients). It is a personalised medicine approach that integrates psychosocial profiling with traditional risk assessment, utilising tailored evaluation tools, caregiver input, and multidisciplinary collaboration to address personality traits, emotional states, socioeconomic circumstances, and cultural contexts. The model emphasises three critical implementation aspects: (1) digital health integration, (2) cost-effectiveness analysis, and (3) healthcare system adaptability. Compared to international approaches, it highlights research gaps in psychosocial interventions and advocates for culturally sensitive adaptations, particularly in resource-limited settings. Special consideration is given to older populations requiring tailored care strategies. Ultimately, Behavioural Cardiology represents a transformative systems-based approach bridging psychology, lifestyle medicine, and cardiovascular treatment. This integration may prove pivotal for optimising chronic disease management through personalised interventions that address both biological and psychosocial determinants of cardiovascular health.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958038","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 Single Nucleotide Polymorphisms in the Cyclooxygenase-2 (COX-2) Gene with Periodontal Disease-A Systematic Review with Meta-Analysis and Implications for Personalized Dentistry.","authors":"Vasiliki Savva, Ioannis Fragkioudakis, Dimitra Sakellari","doi":"10.3390/jpm15080351","DOIUrl":"10.3390/jpm15080351","url":null,"abstract":"<p><p><b>Background:</b> Genetic polymorphisms in the cyclooxygenase-2 (COX-2) gene may contribute to individual susceptibility to periodontal disease. A meta-analysis assessed the association between three COX-2 single-nucleotide polymorphisms (SNPs) namely, -765 G/C (rs20417), -1195 G/A (rs689466), and 8473 T/C (rs5275), and the risk of CP. <b>Methods:</b> Following the PRISMA 2020 guidelines, we conducted a comprehensive search of five electronic databases and additional sources. The eligible studies were observational (case-control or cohort) with genotypic data comparing individuals with periodontal disease and periodontally healthy controls. Methodological quality was assessed using the Newcastle-Ottawa Scale (NOS), and the certainty of evidence was evaluated via the GRADE framework. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated under dominant genetic models. <b>Results:</b> Seven studies (n = 1467 participants) met the inclusion criteria. No eligible studies evaluated the 8473 T/C SNP. The meta-analysis of the -765 G/C variant revealed a significant association with periodontal disease (OR = 1.61; 95% CI: 1.12-2.32, <i>p</i> = 0.03; I² = 0%). For the -1195 G/A variant, the pooled OR was 1.86 (95% CI: 1.00-3.43, <i>p</i> = 0.05; I² = 35%), suggesting a borderline significant association. The certainty of evidence was graded as moderate for -765 G/C and low for -1195 G/A. <b>Conclusions:</b> The COX-2 -765 G/C polymorphism is significantly associated with increased CP risk, while the -1195 G/A variant shows a potential, though less certain, link. Larger, high-quality studies using standardized classifications are needed to confirm these associations.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958006","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":"Personalized Language Training and Bi-Hemispheric tDCS Improve Language Connectivity in Chronic Aphasia: A fMRI Case Study.","authors":"Sandra Carvalho, Augusto J Mendes, José Miguel Soares, Adriana Sampaio, Jorge Leite","doi":"10.3390/jpm15080352","DOIUrl":"10.3390/jpm15080352","url":null,"abstract":"<p><p><b>Background</b>: Transcranial direct current stimulation (tDCS) has emerged as a promising neuromodulatory tool for language rehabilitation in chronic aphasia. However, the effects of bi-hemispheric, multisite stimulation remain largely unexplored, especially in people with chronic and treatment-resistant language impairments. The goal of this study is to look at the effects on behavior and brain activity of an individualized language training program that combines bi-hemispheric multisite anodal tDCS with personalized language training for Albert, a patient with long-standing, treatment-resistant non-fluent aphasia. <b>Methods</b>: Albert, a right-handed retired physician, had transcortical motor aphasia (TCMA) subsequent to a left-hemispheric ischemic stroke occurring more than six years before the operation. Even after years of traditional treatment, his expressive and receptive language deficits remained severe and persistent despite multiple rounds of traditional therapy. He had 15 sessions of bi-hemispheric multisite anodal tDCS aimed at bilateral dorsal language streams, administered simultaneously with language training customized to address his particular phonological and syntactic deficiencies. Psycholinguistic evaluations were performed at baseline, immediately following the intervention, and at 1, 2, 3, and 6 months post-intervention. Resting-state fMRI was conducted at baseline and following the intervention to evaluate alterations in functional connectivity (FC). <b>Results</b>: We noted statistically significant enhancements in auditory sentence comprehension and oral reading, particularly at the 1- and 3-month follow-ups. Neuroimaging showed decreased functional connectivity (FC) in the left inferior frontal and precentral regions (dorsal stream) and in maladaptive right superior temporal regions, alongside increased FC in left superior temporal areas (ventral stream). This pattern suggests that language networks may be reorganizing in a more efficient way. There was no significant improvement in phonological processing, which may indicate reduced connectivity in the left inferior frontal areas. <b>Conclusions</b>: This case underscores the potential of combining individualized, network-targeted language training with bi-hemispheric multisite tDCS to enhance recovery in chronic, treatment-resistant aphasia. The convergence of behavioral gains and neuroplasticity highlights the importance of precision neuromodulation approaches. However, findings are preliminary and warrant further validation through controlled studies to establish broader efficacy and sustainability of outcomes.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958211","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":"Blood Biomarkers as Optimization Tools for Computed Tomography in Mild Traumatic Brain Injury Management in Emergency Departments: A Systematic Review.","authors":"Ángela Caballero Ballesteros, María Isabel Alonso Gallardo, Juan Mora-Delgado","doi":"10.3390/jpm15080350","DOIUrl":"10.3390/jpm15080350","url":null,"abstract":"<p><p><b>Background/Objectives:</b> 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. <b>Methods</b>: 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. <b>Results</b>: 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. <b>Conclusions</b>: 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.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958010","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":"Effect of Photobiomodulation on Post-Endodontic Pain Following Single-Visit Treatment: A Randomized Double-Blind Clinical Trial.","authors":"Glaucia Gonçales Abud Machado, Giovanna Fontgalland Ferreira, Erika da Silva Mello, Ellen Sayuri Ando-Suguimoto, Vinicius Leão Roncolato, Marcia Regina Cabral Oliveira, Janainy Altrão Tognini, Adriana Fernandes Paisano, Cleber Pinto Camacho, Sandra Kalil Bussadori, Lara Jansiski Motta, Cinthya Cosme Gutierrez Duran, Raquel Agnelli Mesquita-Ferrari, Kristianne Porta Santos Fernandes, Anna Carolina Ratto Tempestini Horliana","doi":"10.3390/jpm15080347","DOIUrl":"10.3390/jpm15080347","url":null,"abstract":"<p><p>The evidence for photobiomodulation in reducing postoperative pain after endodontic instrumentation is classified as low or very low certainty, indicating a need for further research. Longitudinal pain assessments over 24 h are crucial, and studies should explore these pain periods. <b>Background/Objectives</b>: This double-blind, randomized controlled clinical trial evaluated the effect of PBM on pain following single-visit endodontic treatment of maxillary molars at 4, 8, 12, and 24 h. Primary outcomes included pain at 24 h; secondary outcomes included pain at 4, 8, and 12 h, pain during palpation/percussion, OHIP-14 analysis, and frequencies of pain. <b>Methods</b>: Approved by the Research Ethics Committee (5.598.290) and registered in Clinical Trials (NCT06253767), the study recruited adults (21-70 years) requiring endodontic treatment in maxillary molars. Fifty-eight molars were randomly assigned to two groups: the PBM Group (<i>n</i> = 29), receiving conventional endodontic treatment with PBM (100 mW, 333 mW/cm², 9 J distributed at 3 points near root apices), and the control group (<i>n</i> = 29), receiving conventional treatment with PBM simulation. Pain was assessed using the Visual Analog Scale. <b>Results</b>: Statistical analyses used chi-square and Mann-Whitney tests, with explained variance (η²). Ten participants were excluded, leaving 48 patients for analysis. No significant differences were observed in postoperative pain at 24, 4, 8, or 12 h, or in palpation/percussion or OHIP-14 scores. Pain frequencies ranged from 12.5% to 25%. <b>Conclusions</b>: PBM does not influence post-treatment pain in maxillary molars under these conditions. These results emphasize the importance of relying on well-designed clinical trials to guide treatment decisions, and future research should focus on personalized dosimetry adapted to the anatomical characteristics of the treated dental region to enhance the accuracy and efficacy of therapeutic protocols.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958179","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":"Validity and Reliability of the Singer Reflux Symptom Score (sRSS).","authors":"Jérôme R Lechien","doi":"10.3390/jpm15080348","DOIUrl":"10.3390/jpm15080348","url":null,"abstract":"<p><p><b>Objectives</b>: To investigate the reliability and validity of the Singer Reflux Symptom Score (sRSS), a new patient-reported outcome questionnaire documenting the severity of reflux symptoms in singing voice is proposed. <b>Methods</b>: Amateur and professional singers consulting the European Reflux Clinic for laryngopharyngeal reflux disease (LPRD) symptoms and findings were prospectively recruited from January 2022 to February 2023. The diagnosis was based on a Reflux Symptom Score (RSS) > 13 and Reflux Sign Assessment (RSA) > 14. A control group of asymptomatic singer subjects was recruited from the University of Mons. The sRSS was rated within a 7-day period to assess test-retest reliability. Internal consistency was measured using Cronbach's α in patients and controls. A correlation analysis was performed between sRSS and Singing Voice Handicap Index (sVHI) to evaluate convergent validity. Responsiveness to change was evaluated through pre- to post-treatment sRSS changes. The sRSS threshold for suggesting a significant impact of LPRD on singing voice was determined by receiver operating characteristic (ROC) analysis. <b>Results</b>: Thirty-three singers with suspected LPRD (51.5% female; mean age: 51.8 ± 17.2 years) were consecutively recruited. Difficulty reaching high notes and vocal fatigue were the most prevalent LPRD-related singing complaints. The sRSS demonstrated high internal consistency (Cronbach-α = 0.832), test-retest reliability, and external validity (correlation with sVHI: r = 0.654; <i>p</i> = 0.015). Singers with suspected LPRD reported a significant higher sRSS compared to 68 controls. sRSS item and total scores significantly reduced from pre-treatment to 3 months post-treatment except for the abnormal voice breathiness item. ROC analysis revealed superior diagnostic accuracy for sRSS (AUC = 0.971) compared to sRSS-quality of life (AUC = 0.926), with an optimal cutoff at sRSS > 38.5 (sensitivity: 90.3%; specificity: 85.0%). <b>Conclusions</b>: The sRSS is a reliable and valid singer-reported outcome questionnaire for documenting singing symptoms associated with LPRD leading to personalized management of Singers. Future large-cohort studies are needed to evaluate its specificity for LPRD compared to other vocal fold disorders in singers.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958231","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":"Improved Precision of COPD Exacerbation Detection in Night-Time Cough Monitoring.","authors":"Albertus C den Brinker, Susannah Thackray-Nocera, Michael G Crooks, Alyn H Morice","doi":"10.3390/jpm15080349","DOIUrl":"10.3390/jpm15080349","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Targeting individuals with certain characteristics provides improved precision in many healthcare applications. An alert mechanism for COPD exacerbations has recently been validated. It has been argued that its efficacy improves considerably with stratification. This paper provides an in-depth analysis of the cough data of the stratified cohort to identify options for and the feasibility of improved precision in the alert mechanism for the intended patient group. <b>Methods:</b> The alert system was extended using a system complementary to the existing one to accommodate observed rapid changes in cough trends. The designed system was tested in a post hoc analysis of the data. The trend data were inspected to consider their meaningfulness for patients and caregivers. <b>Results:</b> While stratification was effective in reducing misses, the augmented alert system improved the sensitivity and number of early alerts for the acute exacerbation of COPD (AE-COPD). The combination of stratification and the augmented mechanism led to sensitivity of 86%, with a false alert rate in the order of 1.5 per year in the target group. The alert system is rule-based, operating on interpretable signals that may provide patients or their caregivers with better insights into the respiratory condition. <b>Conclusions:</b> The augmented alert system operating based on cough trends has the promise of increased precision in detecting AE-COPD in the target group. Since the design and testing of the augmented system were based on the same data, the system needs to be validated. Signals within the alert system are potentially useful for improved self-management in the target group.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387909/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957692","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":"Implementation of Polygenic Risk Stratification and Genomic Counseling in Colombia: An Embedded Mixed-Methods Study.","authors":"Cesar Augusto Buitrago, Melisa Naranjo Vanegas, Harvy Mauricio Velasco, Danny Styvens Cardona, Juan Pablo Valencia-Arango, Sofia Lorena Franco, Lina María Torres, Johana Cañaveral, Diana Patricia Silgado, Andrea López Cáceres","doi":"10.3390/jpm15080335","DOIUrl":"10.3390/jpm15080335","url":null,"abstract":"<p><p><b>Background</b>: Breast cancer remains a major public health challenge in Latin America, where access to personalized risk assessment tools is still limited. This study aimed to evaluate the implementation of a polygenic risk score (PRS)-based stratification model combined with remote genomic counseling in Colombian women with sporadic breast cancer and healthy women. <b>Methods</b>: In 2023, an embedded mixed-methods observational study was conducted in Medellín involving 1997 women aged 40-75 years who underwent clinical PRS testing. The intervention integrated PRS-based risk categorization with individualized risk factor assessment and lifestyle recommendations delivered through a remote counseling platform. <b>Results</b>: PRS analysis classified 9.7% of women as high risk and 46% as low risk. Healthier lifestyle patterns were significantly associated with lower PRS categories (<i>p</i> = 0.034). Physical activity showed a protective effect (OR = 0.60, 95% CI: 0.5-0.8), while prior smoking, elevated BMI, and sedentary behavior were associated with higher risk. The counseling model achieved high delivery (93%) and satisfaction (85%) rates. Qualitative insights revealed improved understanding of genomic risk and greater engagement in preventive behaviors. Only one new case of breast cancer was detected among intermediate-risk participants, with a diagnostic lead time of 12 months. <b>Conclusions</b>: These findings support the feasibility, acceptability, and potential impact of integrating PRS and genomic counseling in cancer prevention strategies in middle-income settings.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387499/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957743","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}