Journal of Personalized Medicine最新文献

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Treatments of Interest in Male Breast Cancer: An Umbrella Review.
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-02-11 DOI: 10.3390/jpm15020066
Stefano Spinaci, Luca Arecco, Agnese Anedda, Lucia Martino, Emma Firpo, Matteo Ghilli, Matteo Lambertini, Giulia Ferrarazzo
{"title":"Treatments of Interest in Male Breast Cancer: An Umbrella Review.","authors":"Stefano Spinaci, Luca Arecco, Agnese Anedda, Lucia Martino, Emma Firpo, Matteo Ghilli, Matteo Lambertini, Giulia Ferrarazzo","doi":"10.3390/jpm15020066","DOIUrl":"https://doi.org/10.3390/jpm15020066","url":null,"abstract":"<p><p><b>Background:</b> Male breast cancer (MaBC) is a rare disease and due to its rarity and the lack of specific protocols for its management, treatment algorithms are extrapolated from female breast cancer (FBC). To optimize MaBC treatment, we conceived an umbrella review with the aim of supplying an evidence-based summary of systematic reviews published about this topic in the last twenty years. <b>Methods:</b> This umbrella review was performed according to a predefined protocol (PROSPERO number CRD42024574299). We performed a literature search of the PubMed and Cochrane Libraries databases and we considered systematic reviews on MaBC treatment published from 2004 to 2024. We evaluated relevant treatments in the management of MaBC, including surgery, radiotherapy, and systemic treatments. We conducted the quality assessment according to A MeaSurement Tool to Assess systematic Reviews version 2 (AMSTAR-2), and the description of the main findings of eligible articles. <b>Results:</b> Seven systematic reviews were selected and the main findings were compiled. Breast-conserving surgery is a reasonable treatment approach and, in selected cases, equivalent in terms of safety and survival outcomes compared to mastectomy. Sentinel lymph node biopsy represents a successful surgical practice with similar accuracy compared to female cases. Adjuvant radiotherapy improves overall survival in MaBC patients following partial mastectomy and after radical mastectomy, in case of involved nodes. Finally, Tamoxifen is associated with an improvement of survival outcomes; aromatase inhibitor and gonadotrophin-releasing hormone should be used only in case of contraindications to tamoxifen. <b>Conclusions:</b> Further research and improved guidelines for MaBC treatment should consider these evidence-based data.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492494","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}
引用次数: 0
Occlusion and Biomechanical Risk Factors in Implant-Supported Full-Arch Fixed Dental Prostheses-Narrative Review. 种植体支持的全弓固定牙修复体的咬合和生物力学风险因素--叙述性综述。
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-02-07 DOI: 10.3390/jpm15020065
Andrea Berzaghi, Tiziano Testori, Riccardo Scaini, Sergio Bortolini
{"title":"Occlusion and Biomechanical Risk Factors in Implant-Supported Full-Arch Fixed Dental Prostheses-Narrative Review.","authors":"Andrea Berzaghi, Tiziano Testori, Riccardo Scaini, Sergio Bortolini","doi":"10.3390/jpm15020065","DOIUrl":"https://doi.org/10.3390/jpm15020065","url":null,"abstract":"<p><p>The biophysiological differences between teeth and dental implants and the issue of occlusal overload, although controversial, form the basis for the management of occlusion in implant-supported full-arch fixed dental prostheses (ISFAFDPs). Although there is currently a lack of scientific evidence on occlusal management, it is clear that the favorable prognosis of ISFAFDPs is linked to a correct understanding of the biomechanical principles involved. In the design of ISFAFDPs, the lack of proprioceptive feedback requires special attention to biomechanical factors: minimizing overloading complications and providing biomechanical stability are among the main goals of the occlusion. In ISFAFDPs, the occlusion must be decided on the basis of several factors that influence the loads on prosthesis and implants: each case must be evaluated individually and requires a personalized occlusion. The main aim of this narrative review is to provide an overview of the occlusal principles and materials that can be used in ISFAFDPs based on the data currently available in the literature. Practical clinical recommendations for the occlusion management of ISFAFDPs and a biomechanical risk score index to personalize implant-prosthetic treatment are proposed.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492397","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}
引用次数: 0
Artificial Intelligence-Driven Analysis of Telehealth Effectiveness in Youth Mental Health Services: Insights from SAMHSA Data.
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-02-07 DOI: 10.3390/jpm15020063
Masab Mansoor, Kashif Ansari
{"title":"Artificial Intelligence-Driven Analysis of Telehealth Effectiveness in Youth Mental Health Services: Insights from SAMHSA Data.","authors":"Masab Mansoor, Kashif Ansari","doi":"10.3390/jpm15020063","DOIUrl":"https://doi.org/10.3390/jpm15020063","url":null,"abstract":"<p><p><b>Background</b>: The rapid adoption of telehealth services for youth mental health care necessitates a comprehensive evaluation of its effectiveness. This study aimed to analyze the impact of telehealth on youth mental health outcomes using artificial intelligence techniques applied to large-scale public health data. <b>Methods</b>: We conducted an AI-driven analysis of data from the National Survey on Drug Use and Health (NSDUH) and other SAMHSA datasets. Machine learning techniques, including random forest models, K-means clustering, and time series analysis, were employed to evaluate telehealth adoption patterns, predictors of effectiveness, and comparative outcomes with traditional in-person care. Natural language processing was used to analyze sentiment in user feedback. <b>Results</b>: Telehealth adoption among youth increased significantly, with usage rising from 2.3 sessions per year in 2019 to 8.7 in 2022. Telehealth showed comparable effectiveness to in-person care for depressive disorders and superior effectiveness for anxiety disorders. Session frequency, age, and prior diagnosis were identified as key predictors of telehealth effectiveness. Four distinct user clusters were identified, with socioeconomic status and home environment strongly associated with positive outcomes. States with favorable reimbursement policies saw a 15% greater increase in youth telehealth utilization and 7% greater improvement in mental health outcomes. <b>Conclusions</b>: Telehealth demonstrates significant potential in improving access to and effectiveness of mental health services for youth. However, addressing technological barriers and socioeconomic disparities is crucial to maximize its benefits.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492475","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}
引用次数: 0
Efficacy and Safety of Omalizumab and Dupilumab in Pediatric Patients with Skin Diseases: An Observational Study.
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-02-07 DOI: 10.3390/jpm15020064
Francesca Galletta, Ludovica Rizzuti, Stefano Passanisi, Emanuela Rosa, Lucia Caminiti, Sara Manti
{"title":"Efficacy and Safety of Omalizumab and Dupilumab in Pediatric Patients with Skin Diseases: An Observational Study.","authors":"Francesca Galletta, Ludovica Rizzuti, Stefano Passanisi, Emanuela Rosa, Lucia Caminiti, Sara Manti","doi":"10.3390/jpm15020064","DOIUrl":"https://doi.org/10.3390/jpm15020064","url":null,"abstract":"<p><p><b>Background:</b> Chronic spontaneous urticaria (CSU) and moderate-to-severe atopic dermatitis (AD) are significant challenges in pediatric populations, negatively impacting quality of life (QoL). Biologic therapies, including omalizumab and dupilumab, showed considerable promise for patients unresponsive to conventional treatments. This study evaluated the real-life efficacy and safety of these biologics in pediatric CSU and AD patients. <b>Methods:</b> A retrospective, monocentric study was conducted enrolling pediatric patients (aged 6-18 years) followed at the \"G. Martino\" Hospital, University of Messina. This study included patients with CSU unresponsive to antihistamines and those with moderate-to-severe AD refractory to topical therapies. Disease severity and treatment efficacy were evaluated using the Urticaria Activity Score 7 (UAS7) for CSU, the Eczema Area and Severity Index (EASI) for AD, and QoL metrics, including the Dermatology Life Quality Index (DLQI) and numerical rating scales, for pruritus (p-NRS) and sleep (s-NRS), at baseline, 16 weeks, and 52 weeks. Safety was assessed through the monitoring of reported adverse events (AEs). <b>Results:</b> Omalizumab significantly reduced UAS7 scores by 71.9% at 16 weeks and 75.3% at 52 weeks (<i>p</i> < 0.001), with concurrent improvements in c-DLQI. Dupilumab reduced the EASI score by 75.3%, p-NRS by 40%, and s-NRS by 52.9% over 52 weeks, with c-DLQI improving by 72.6%. No severe AEs were observed; mild reactions included injection-site erythema and respiratory symptoms. <b>Conclusions:</b> Omalizumab and dupilumab demonstrated significant efficacy in reducing disease severity and improving QoL in pediatric patients with CSU and AD. Moreover, their safety profile underscores their potential as essential treatments for these conditions.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492501","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}
引用次数: 0
BDNF/BDNF-AS Gene Polymorphisms Modulate Treatment Response and Remission in Bipolar Disorder: A Randomized Clinical Trial.
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-02-07 DOI: 10.3390/jpm15020062
Anton Shkundin, Heather E Wheeler, James Sinacore, Angelos Halaris
{"title":"BDNF/BDNF-AS Gene Polymorphisms Modulate Treatment Response and Remission in Bipolar Disorder: A Randomized Clinical Trial.","authors":"Anton Shkundin, Heather E Wheeler, James Sinacore, Angelos Halaris","doi":"10.3390/jpm15020062","DOIUrl":"https://doi.org/10.3390/jpm15020062","url":null,"abstract":"<p><p><b>Background:</b> Bipolar disorder (BD) is a chronic condition associated with treatment resistance, cognitive decline, structural brain changes, and an approximately 13-year reduction in life expectancy compared to the general population. Depression in BD substantially impairs quality of life, while neuroinflammation and excitotoxicity are thought to contribute to the recurrence of mood episodes and disease progression. Brain-derived neurotrophic factor (BDNF) plays a key role in neuronal growth and function, with its dysregulation being linked to various psychiatric disorders. This study is an extension of a previously published clinical trial and was conducted to assess the effects of three BDNF and BDNF-AS gene polymorphisms (rs1519480, rs6265, and rs10835210) on treatment outcomes and serum BDNF levels in patients with treatment-resistant bipolar disorder depression (TRBDD) over an eight-week period. <b>Methods:</b> This study included 41 participants from a previously conducted randomized clinical trial, all of whom had available BDNF serum samples and genotype data. The participants, aged 21 to 65, were diagnosed with bipolar disorder, and treatment-resistant depression was assessed using the Maudsley Staging Method. Participants were randomly assigned to receive either escitalopram plus a placebo (ESC+PBO) or escitalopram plus celecoxib (ESC+CBX) over an 8-week period. Statistical analyses included a mixed ANOVA and chi-square tests to compare the minor allele carrier status of three SNPs with treatment response and remission rates. <b>Results:</b> Non-carriers of the rs6265 A allele (<i>p</i> = 0.005) and carriers of the rs10835210 A allele (<i>p</i> = 0.007) showed a significantly higher response to treatment with adjunctive celecoxib compared to escitalopram alone. Additionally, remission rates after adjunctive celecoxib were significantly higher in both carriers and non-carriers across all three SNPs compared to escitalopram alone. However, remission rates were notably higher in non-carriers of the rs1519480 G allele and rs10835210 A allele, as well as in carriers of the rs6265 A allele. <b>Conclusions:</b> This study suggests that genetic variations in BDNF and BDNF-AS genes significantly influence treatment response to and remission with escitalopram and celecoxib in bipolar disorder.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492490","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}
引用次数: 0
Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant.
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-02-06 DOI: 10.3390/jpm15020061
Christian Messina, Salvatore Gulizia, Federica Scalia, Eugenia Borgione, Francesco Cappello, Filippo Brighina, Vincenzo Di Stefano
{"title":"Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant.","authors":"Christian Messina, Salvatore Gulizia, Federica Scalia, Eugenia Borgione, Francesco Cappello, Filippo Brighina, Vincenzo Di Stefano","doi":"10.3390/jpm15020061","DOIUrl":"https://doi.org/10.3390/jpm15020061","url":null,"abstract":"<p><p><b>Introduction.</b> Hereditary transthyretin amyloidosis (hATTR) is a rare disorder with a largely variable worldwide prevalence, and it is caused by autosomal dominant mutations in the transthyretin (<i>TTR</i>) gene, leading to cardiological, neurological, or mixed phenotypes. Apart from the Glu89Gln, Phe64Leu, and Thr49Ala variants, recently, other mutations of <i>TTR</i> gene have been reported in Sicily (His90Asn, Val122Ile, Ser77Phe, Val20Ala). With this paper, we describe a novel mutation in the <i>TTR</i> gene, the Glu61Ala variant, which had been previously reported in only one case with a cardiac phenotype, and the clinical findings surrounding it. <b>Materials and Methods.</b> One individual affected by chronic idiopathic polyneuropathy and a major red flag for hATTR underwent genetic testing to look for mutations in the <i>TTR</i> gene. Then, his relatives were subjected to the same test. We assessed the anamnestic profile and conducted general and neurological examination, blood tests, nerve conduction studies (NCS), electrocardiogram, and Sudoscan for each patient. Written informed consent was acquired for every patient. <b>Results.</b> Among 7 patients screened, 5 patients carried the Glu61Ala variant (71%). The mean age was 64.6 ± 10.2 years, whereas the mean age at onset was 59.4 ± 7.9 years. In our study, three patients (60%) showed a mixed phenotype, whereas two of them (40%) showed a neurological phenotype. <b>Discussion.</b> The Glu61Ala variant was reported only in one case with a cardiological phenotype, but our patients showed both neurological and cardiological involvement. Further studies are needed to improve knowledge of this genetic variant.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492519","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}
引用次数: 0
The Design and Feasibility of Optimal Treatment for Coronary Drug-Eluting Stent In-Stent Restenosis (OPEN-ISR)-A Prospective, Randomised, Multicentre Clinical Trial.
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-02-02 DOI: 10.3390/jpm15020060
Péter Márton Kulyassa, Balázs Tamás Németh, István Hizoh, Laura Krisztina Jankó, Zoltán Ruzsa, Zoltán Jambrik, Brúnó Bánk Balázs, Dávid Becker, Béla Merkely, István Ferenc Édes
{"title":"The Design and Feasibility of Optimal Treatment for Coronary Drug-Eluting Stent In-Stent Restenosis (OPEN-ISR)-A Prospective, Randomised, Multicentre Clinical Trial.","authors":"Péter Márton Kulyassa, Balázs Tamás Németh, István Hizoh, Laura Krisztina Jankó, Zoltán Ruzsa, Zoltán Jambrik, Brúnó Bánk Balázs, Dávid Becker, Béla Merkely, István Ferenc Édes","doi":"10.3390/jpm15020060","DOIUrl":"https://doi.org/10.3390/jpm15020060","url":null,"abstract":"<p><p><b>Introduction:</b> Percutaneous coronary intervention (PCI) with drug-eluting stents (DES) is a cornerstone of the management of ischemic heart disease. However, in-stent restenosis (ISR) remains a significant clinical challenge, occurring in approximately 5-10% of patients undergoing PCI. This study is designed to compare the efficacy and safety of the primary therapeutic approaches for DES-ISR, specifically drug-coated balloons (DCBs)-paclitaxel-coated balloons (PCBs) and sirolimus-coated balloons (SCBs)-with a new-generation everolimus-eluting stent (EES), contributing to the evolving field of personalized medicine. <b>Methods and Analysis:</b> This prospective, multicentre, randomised, non-inferiority trial aims to enroll 150 patients with DES-ISR, who will be randomised into one of the following: SCB, PCB, or EES. The primary endpoint comparing DCB and EES is late lumen loss (LLL) at 6 months, as measured by quantitative coronary angiography (QCA). Secondary endpoints comparing the three arms include a device-oriented composite endpoint, intraluminal gain, optical coherence tomography (OCT) measured LLL, and correlations between LLL and quantitative flow ratio (QFR). The primary endpoint will be analysed using a non-inferiority design, with a margin set at 0.25 mm, for which the sample size was calculated. Statistical analysis of the primary endpoint will be conducted on an intention-to-treat basis with a one-tailed Mann-Whitney U test with a significance level of 95. Secondary endpoints will be analysed via superiority testing using ANOVA, the Kruskal-Wallis test, logistic regression, or Fisher's exact test, as appropriate. <b>Ethics and Dissemination:</b> The study protocol has been approved by the Medical Devices Department of the Hungarian National Institute of Pharmacy and Nutrition, ensuring compliance with ethical standards as outlined in the Declaration of Helsinki. All investigators declare no conflicts of interest related to this study. The trial is registered in ClinicalTrials.gov under the ID: NCT04862052.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492479","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}
引用次数: 0
Towards Trustworthy AI in Healthcare: Epistemic Uncertainty Estimation for Clinical Decision Support.
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-01-31 DOI: 10.3390/jpm15020058
Adrian Lindenmeyer, Malte Blattmann, Stefan Franke, Thomas Neumuth, Daniel Schneider
{"title":"Towards Trustworthy AI in Healthcare: Epistemic Uncertainty Estimation for Clinical Decision Support.","authors":"Adrian Lindenmeyer, Malte Blattmann, Stefan Franke, Thomas Neumuth, Daniel Schneider","doi":"10.3390/jpm15020058","DOIUrl":"https://doi.org/10.3390/jpm15020058","url":null,"abstract":"<p><p><b>Introduction:</b> Widespread adoption of AI for medical decision-making is still hindered due to ethical and safety-related concerns. For AI-based decision support systems in healthcare settings, it is paramount to be reliable and trustworthy. Common deep learning approaches, however, have the tendency towards overconfidence when faced with unfamiliar or changing conditions. Inappropriate extrapolation beyond well-supported scenarios may have dire consequences highlighting the importance of the reliable estimation of local knowledge uncertainty and its communication to the end user. <b>Materials and Methods:</b> While neural network ensembles (ENNs) have been heralded as a potential solution to these issues for many years, deep learning methods, specifically modeling the amount of knowledge, promise more principled and reliable behavior. This study compares their reliability in clinical applications. We centered our analysis on experiments with low-dimensional toy datasets and the exemplary case study of mortality prediction for intensive care unit hospitalizations using Electronic Health Records (EHRs) from the MIMIC3 study. For predictions on the EHR time series, Encoder-Only Transformer models were employed. Knowledge uncertainty estimation is achieved with both ensemble and Spectral Normalized Neural Gaussian Process (SNGP) variants of the common Transformer model. We designed two datasets to test their reliability in detecting token level and more subtle discrepancies both for toy datasets and an EHR dataset. <b>Results:</b> While both SNGP and ENN model variants achieve similar prediction performance (AUROC: ≈0.85, AUPRC: ≈0.52 for in-hospital mortality prediction from a selected MIMIC3 benchmark), the former demonstrates improved capabilities to quantify knowledge uncertainty for individual samples/patients. <b>Discussion/Conclusions:</b> Methods including a knowledge model, such as SNGP, offer superior uncertainty estimation compared to traditional stochastic deep learning, leading to more trustworthy and safe clinical decision support.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492492","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}
引用次数: 0
Precision Oncology in Clinical Practice: Two Years of Comprehensive Genomic Profiling in Croatia.
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-01-31 DOI: 10.3390/jpm15020059
Dora Čerina Pavlinović, Jelena Šuto Pavičić, Antonela Njavro, Nikša Librenjak, Ilijan Tomaš, Robert Šeparović, Stjepko Pleština, Žarko Bajić, Natalija Dedić Plavetić, Eduard Vrdoljak
{"title":"Precision Oncology in Clinical Practice: Two Years of Comprehensive Genomic Profiling in Croatia.","authors":"Dora Čerina Pavlinović, Jelena Šuto Pavičić, Antonela Njavro, Nikša Librenjak, Ilijan Tomaš, Robert Šeparović, Stjepko Pleština, Žarko Bajić, Natalija Dedić Plavetić, Eduard Vrdoljak","doi":"10.3390/jpm15020059","DOIUrl":"https://doi.org/10.3390/jpm15020059","url":null,"abstract":"<p><p><b>Background:</b> The widespread adoption of precision medicine in routine cancer care remains a critical challenge, even as advanced technologies expand and personalized therapies demonstrate remarkable success in certain cancer types. While breakthrough innovations in targeted treatments have revolutionized outcomes for specific cancers, translating these scientific advances into standard clinical practice continues to be an evolving and complex endeavor. Croatia has a nationwide project of precision oncology through the comprehensive genomic profiling (CGP) analysis. Since collecting and analyzing real-world data is crucial for clinical research and defining the value of CGP in precision oncology, we aimed to present the data from everyday clinical practice given the opportunities and challenges we faced. <b>Methods</b>: This was a retrospective observational study conducted at the national level in all patients whose tumor samples were subjected to CGP between 1 January 2020 and 31 December 2021. <b>Results</b>: In total, 481 patients with CGP results were included in this study. Gastrointestinal and reproductive malignancies were the most common, accounting for 29.1% and 28.9% of all tested tumors, respectively. Specifically, colorectal tumors made up 19.1% of cases, while uterine tumors represented 11.2%. At least one clinically relevant genomic alteration was found in 76.7% of patients, with the KRAS mutation (27.2%) being the most common. During the two-year study period, 26,709 individuals lost their lives to cancer in Croatia. Combining this with the CGP selection criteria valid at the time, there was an estimated population of approximately 13,350 potentially eligible patients for the CGP analysis, meaning that only 3.6% of potentially eligible patients were tested. <b>Conclusions</b>: The analysis identified clinically actionable genomic alterations in approximately 80% of the evaluated patients, suggesting they could be candidates for targeted therapeutic interventions. The adoption of CGP remains limited, with estimates indicating that under 5% of metastatic cancer patients received testing in the initial two-year implementation period, despite established national insurance coverage guidelines. This low utilization rate suggests a significant gap in access to genomic testing, leaving many eligible cancer patients without the potential benefits of this diagnostic approach.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492457","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}
引用次数: 0
Mineralocorticoid Receptor Antagonists and Cognitive Outcomes in Cardiovascular Disease and Beyond: A Systematic Review.
IF 3 3区 医学
Journal of Personalized Medicine Pub Date : 2025-01-30 DOI: 10.3390/jpm15020057
Paola Pastena, Gabriele Campagnoli, Ali Reza Rahmani, Andreas P Kalogeropoulos
{"title":"Mineralocorticoid Receptor Antagonists and Cognitive Outcomes in Cardiovascular Disease and Beyond: A Systematic Review.","authors":"Paola Pastena, Gabriele Campagnoli, Ali Reza Rahmani, Andreas P Kalogeropoulos","doi":"10.3390/jpm15020057","DOIUrl":"https://doi.org/10.3390/jpm15020057","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Cognitive impairment is a debilitating comorbidity affecting diverse patient populations, yet the cognitive effects of therapies like mineralocorticoid receptor antagonists (MRAs) remain underexplored. Preclinical evidence suggests that MRAs, particularly spironolactone, may reduce cognitive decline by modulating aldosterone-dependent pathways and targeting hippocampal receptors. However, evidence in humans is fragmented, and no systematic review has consolidated these findings. This review evaluates the cognitive effects of MRAs, synthesizes current data, and identifies research gaps. <b>Methods:</b> A literature search using terms related to MRAs and cognitive outcomes was performed in PubMed and Web of Science from 1979 to 2023. A total of 143 articles were identified and 85 were screened after removing duplicates. Ultimately, 44 studies were included and were classified based on study design and population focus (preclinical, healthy controls, patients with psychiatric disorders, and cardiovascular patients). <b>Results:</b> Spironolactone demonstrated mixed effects on cognition. In healthy participants, it improved spatial memory under stress and prevented stress-related suppression of medial temporal activity, but impaired working memory and selective attention. In patients with psychiatric conditions, spironolactone reduced cognitive empathy deficits in major depressive disorder and improved working memory in bipolar I disorder. In cardiovascular patients, spironolactone improved cognitive scores and hippocampal memory but had no effect on non-hippocampal memory. <b>Conclusions:</b> Spironolactone exhibits potential cognitive benefits across diverse populations. However, its effects on cognition are mixed, highlighting the need for further research to understand its mechanisms and therapeutic potential, particularly in patients with heart failure and other related conditions.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492392","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}
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