Journal of Personalized Medicine最新文献

{"title":"Machine Learning Approaches for the Prediction of Postoperative Major Complications in Patients Undergoing Surgery for Bowel Obstruction.","authors":"Alessandro D Mazzotta, Elisa Burti, Francesco Andrea Causio, Alex Orlandi, Silvia Martinelli, Mattia Longaroni, Tiziana Pinciroli, Tarek Debs, Gianluca Costa, Michelangelo Miccini, Paolo Aurello, Niccolò Petrucciani","doi":"10.3390/jpm14101043","DOIUrl":"https://doi.org/10.3390/jpm14101043","url":null,"abstract":"<p><strong>Background: </strong>Performing emergency surgery for bowel obstruction continues to place a significant strain on the healthcare system. Conventional assessment methods for outcomes in bowel obstruction cases often concentrate on isolated factors, and the evaluation of results for individuals with bowel obstruction remains poorly studied. This study aimed to examine the risk factors associated with major postoperative complications.</p><p><strong>Methods: </strong>We retrospectively analyzed 99 patients undergoing surgery from 2015 to 2022. We divided the patients into two groups: (1) benign-related obstruction (n = 68) and (2) cancer-related obstruction (n = 31). We used logistic regression, KNN, and XGBOOST. We calculated the receiver operating characteristic curve and accuracy of the model.</p><p><strong>Results: </strong>Colon obstructions were more frequent in the cancer group (<i>p</i> = 0.005). Operative time, intestinal resection, and stoma were significantly more frequent in the cancer group. Major complications were at 41% for the cancer group vs. 20% in the benign group (<i>p</i> = 0.03). Uni- and multivariate analysis showed that the significant risk factors for major complications were cancer-related obstruction and CRP. The best model was KNN, with an accuracy of 0.82.</p><p><strong>Conclusions: </strong>Colonic obstruction is associated with tumor-related blockage. Malignant cancer and an increase in C-reactive protein (CRP) are significant risk factors for patients who have undergone emergency surgery due to major complications. KNN could improve the process of counseling and the perioperative management of patients with intestinal obstruction in emergency settings.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502558","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":"Soft Tissue Facial Morphology in Growing Patients with Different Occlusal Classes.","authors":"Niccolò Cenzato, Marco Farronato, Francesco Carlo Tartaglia, Lucia Giannini, Angelo Michele Inchingolo, Gianna Dipalma, Cinzia Maspero, Francesco Inchingolo","doi":"10.3390/jpm14101042","DOIUrl":"https://doi.org/10.3390/jpm14101042","url":null,"abstract":"<p><strong>Introduction: </strong>The study of facial profiles in the dental field is very important for the diagnosis and the dental and orthodontic treatment plan. The aim of this study is to analyze the three-dimensional morphology of the faces of 269 growing patients with Class I and II occlusions, focusing on children aged between 6 and 9 years old. The analysis was conducted using a non-invasive computerized system, which allowed for the automatic collection of facial landmarks and the subsequent reconstruction of three-dimensional coordinates.</p><p><strong>Materials and methods: </strong>The sample comprised 269 children within the specified age range. Each child's facial features were captured using the non-invasive computerized system, which utilized two infrared CCD cameras, real-time hardware for label recognition, and software for three-dimensional landmark reconstruction. Sixteen cutaneous facial landmarks were automatically collected for each participant. From these landmarks, 10 angular and 15 linear measurements, as well as five direct distance rates, were derived. The mean values for each age class were calculated separately for children with bilateral Angle Class I occlusion and compared with those for children with bilateral Class II occlusion. In all children, the left and right occlusal classes were measured as suggested by Katz.</p><p><strong>Results: </strong>The analysis revealed notable differences, primarily in the three-dimensional angular measurements between children with Class I and II occlusions. Specifically, Class II children exhibited more convex faces in the sagittal plane and a less prominent lower jaw compared to Class I children. However, no significant differences were observed in linear measurements, except for the lower facial height rate, which varied inconsistently across age groups between the two occlusion types.</p><p><strong>Discussion and conclusions: </strong>the findings of this research highlight distinct three-dimensional facial morphological differences between children with Class I and II occlusions. While Class II children tended to have more convex facial profiles and less prominent lower jaws, linear measurements showed minimal variation between the two occlusion types. These results underscore the importance of three-dimensional analysis in understanding facial morphology in growing patients with different occlusal patterns.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502473","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":"Sex Differences in Intracranial Aneurysms: A Matched Cohort Study.","authors":"Vanessa M Swiatek, Amir Amini, Michelle Marinescu, Claudia A Dumitru, Lena Spitz, Klaus-Peter Stein, Sylvia Saalfeld, Ali Rashidi, I Erol Sandalcioglu, Belal Neyazi","doi":"10.3390/jpm14101038","DOIUrl":"https://doi.org/10.3390/jpm14101038","url":null,"abstract":"<p><p><b>Background:</b> Aneurysmal subarachnoid hemorrhage (SAH) predominantly affects women, accounting for 65% of cases. Women have a 1.3 times higher relative risk than men, with the incidence rising particularly in women aged 55-85 years. Women also have a higher prevalence of unruptured intracranial aneurysms (IAs), especially after the age of 50 years, and are at greater risk of aneurysm growth and rupture. This study aimed to isolate the influence of sex on rupture rate, bleeding severity, functional outcomes, and complications by using a matched cohort, while also examining the impact of sex on aneurysm localization and multiplicity. <b>Methods:</b> We utilized a retrospectively collected database of 300 patients with 511 IAs. Inclusion criteria included the availability of clinical data and 3D angiography for semi-automatic reconstruction of IA morphology. Female patients and their IA were matched with male patients according to clinical parameters and 21 morphological characteristics using an interactive visual exploration tool for multidimensional matching. <b>Results:</b> Contrary to previously published results, our study found no significant sex differences in rupture rates or vasospasm rates between male and female patients. The severity of SAH, functional outcomes, and complications such as hydrocephalus were also similar in women and men. However, women exhibited a higher prevalence of multiple aneurysms and distinct localization patterns. <b>Conclusions:</b> This study underscores the complex role of sex in IA development and rupture. Although sex-specific biological factors influence aneurysm characteristics, they do not necessarily translate into differences in clinical outcomes. Further research is needed to explore these factors and their impact on aneurysm development and management.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502472","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":"Impact of Anti-Vascular Endothelial Growth Factor Treatment on Neovascular Age-Related Macular Degeneration with and without Retinal Pigment Epithelial Detachment: A Real-World Study.","authors":"Yu-Wei Kuo, Cheng-Yung Lee, Yi-Ting Hsieh, Chung-May Yang, Tzyy-Chang Ho, Tso-Ting Lai, Chang-Hao Yang","doi":"10.3390/jpm14101041","DOIUrl":"https://doi.org/10.3390/jpm14101041","url":null,"abstract":"<p><strong>Background/objectives: </strong>This study evaluates the impact of anti-vascular endothelial growth factor (anti-VEGF) treatment on neovascular age-related macular degeneration (nAMD) with and without pigment epithelial detachment (PED) over a one-year period.</p><p><strong>Methods: </strong>Conducted at a tertiary referral center in Taiwan, this retrospective analysis included 88 eyes treated with intravitreal aflibercept injections. Patients were categorized into four groups based on the presence or absence of PED at baseline and 12 months post-treatment.</p><p><strong>Results: </strong>Significant reductions in central macular thickness (CMT) and PED height were observed, although no statistical difference was found in best-corrected visual acuity (BCVA). The presence or type of PED did not negatively impact visual outcomes. Among nAMD patients with persistent PED throughout the first year of anti-VEGF treatment, linear regression analysis showed that mixed-type PED revealed poor final BCVA compared to those with serous PED. The analysis also identified older age and poorer initial BCVA as predictors of less favorable visual outcomes.</p><p><strong>Conclusions: </strong>This study highlights the effectiveness of anti-VEGF therapy in real-world settings and offers insights into factors influencing visual outcomes for nAMD patients with PED.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502553","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":"Assessment of the Impact of Bone Quality and Abutment Configuration on the Fatigue Performance of Dental Implant Systems Using Finite Element Analysis (FEA).","authors":"Meryem Erdoğdu, Mehmet Gökberkkaan Demirel, Reza Mohammadi, Neslihan Güntekin","doi":"10.3390/jpm14101040","DOIUrl":"https://doi.org/10.3390/jpm14101040","url":null,"abstract":"<p><strong>Background and objectives: </strong>The aim of this study was to evaluate the influence of abutment angulation, types, and bone quality on fatigue performance in dental implant systems.</p><p><strong>Materials and methods: </strong>Three-dimensional models of maxillary 3-unit fixed implant-supported prostheses were analyzed. Abutments with different angles and types were used. Healthy bone (Hb) and resorbed bone (Rb) were used. Conducted on implants, a force of 150 N was applied obliquely, directed from the palatal to the buccal aspect, at a specific angle of 30 degrees. The stress distribution and fatigue performance were then evaluated considering the types of bone used and the angles of the three different abutments. The simulation aspect of the research was carried out utilizing Abaqus 2020 software.</p><p><strong>Results: </strong>In all models, fatigue strengths in healthy bone were higher than in resorbed bone. Maximum stress levels were seen in models with angled implants. In almost all models with resorbed bone, fatigue performances were slightly lower.</p><p><strong>Conclusions: </strong>Increasing the abutment angle has been shown to increase stress levels and decrease fatigue performance in the adjacent bone and along the implant-abutment interface. In general, implants applied to healthy bone were found to have a higher success rate. It has also been suggested that multiunit abutments have beneficial effects on stress distribution and fatigue performance compared to resin cemented abutments. The type or angle of abutment and the quality of the bone can lead to biomechanical changes that affect the force distribution within the bone structure surrounding the implant. Clinicians can influence the biomechanical environment of the implant site by varying the abutment angle and type to suit the condition of bone health, potentially affecting the long-term success of implant treatment.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Effect of Therapeutic Exercise and Local Cryotherapy on Lower Limb Enthesitis in Non-Radiographic Axial Spondyloarthritis: A Case Report.","authors":"Angelo Alito, Rossella Talotta, Valeria D'Amico, Daniela Amato, Demetrio Milardi, Paolo Capodaglio","doi":"10.3390/jpm14101035","DOIUrl":"https://doi.org/10.3390/jpm14101035","url":null,"abstract":"<p><strong>Background: </strong>Enthesitis is a common feature of spondyloarthritis and can severely impair the patient's quality of life. International guidelines recommend multidisciplinary management of this condition, combining physical and pharmacological interventions. In this case report, we demonstrate clinical and ultrasonographic improvements by prescribing local cryotherapy and therapeutic exercise alone in an adult woman with non-radiographic axial SpA (nRX-AxSpA) complaining of heel enthesitis.</p><p><strong>Methodology: </strong>A personalized program was prescribed that focused on reducing pain, joint stiffness, and muscle tightness, improving strength and endurance. Pain, function, and degree of disability were assessed using the Numerical Rating Scale, the Victorian Institute of Sport Assessment-Achilles, the single-leg heel lift test, and the Foot Function Index. In addition, lower limb muscle strength was measured using a dynamometer and enthesitis was assessed ultrasonographically using the Glasgow Ultrasound Enthesitis Score System.</p><p><strong>Results: </strong>Benefits were evident as early as week 5 and persisted at 3 months on ultrasound assessment. No side effects were reported.</p><p><strong>Discussion: </strong>To the best of our knowledge, this is the first report of prescribing such a strategy in a patient with nRX-AxSpA. Given the good tolerability, this intervention could be considered in patients with contraindications to pharmacologic approaches.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508234/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502488","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":"Dynamic Soluble IL-6R/Soluble gp130 Ratio as a Potential Indicator for the Prostate Malignancy Phenotype-A Multicenter Case-Control Study.","authors":"Cosmin-Victor Ene, Bogdan Geavlete, Cristian Mares, Ilinca Nicolae, Corina Daniela Ene","doi":"10.3390/jpm14101037","DOIUrl":"https://doi.org/10.3390/jpm14101037","url":null,"abstract":"<p><strong>Objective: </strong>Prostate tumors, if prostate cancer or adenoma, represent a major public health challenge. Progress in research on inflammation has revealed a connection between inflammation, immunity, and cancer. In this context, this study aimed to find IL-6 signaling systemic abnormalities in the inflammatory tumor microenvironment.</p><p><strong>Material and methods: </strong>This study was case-controlled, multicentered, and included 86 patients, 43 diagnosed with BPH and 43 diagnosed with PCa, between January 2019 and January 2020. The study group was homogenous and the studied parameters were IL-6 complex (IL-6, soluble receptor IL-6R, soluble glycoprotein gp130), acute phase proteins (C reactive protein-CRP, acid alpha1 glycoprotein-AGPA, ferritin, albumin, transferrin), and oxidative stress-associated variables (malondialdehyde-MDA, carbonylated protein-PCO, 8-hydroxy-deoxy guanosine-8-OHdG, total antioxidant status-bTAS).</p><p><strong>Results: </strong>The inflammatory microenvironment determined IL-6 signaling alterations (over-regulation of sIL-6R and suppression of sgp130 in PCa versus BPH), changes in acute phase reaction markers (increased serum levels of CRP, AGPA, ferritin, and decreased serum levels of albumin, transferrin) that were much more evident in PCa compared to BPH, an imbalance between macromolecular oxidative damage (MDA, PCO, 8-OHdG) and endogenous antioxidants (TAS) that was more accentuated in PCa compared with BPH, and a representative association between the sIL-6R/sgp130 ratio and inflammatory/oxidative stress-related factors only in PCa patients.</p><p><strong>Conclusions: </strong>Our study reconfirms the anterior concept that IL-6 promotes prostatic tumorigenesis. In this study, we first demonstrated that a high sIL-6R/sgp130 ratio facilitates prostate malignancy.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508781/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502539","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":"Increased Cadmium Load, Vitamin D Deficiency, and Elevated FGF23 Levels as Pathophysiological Factors Potentially Linked to the Onset of Acute Lymphoblastic Leukemia: A Review.","authors":"Vuk Djulejic, Ana Ivanovski, Ana Cirovic, Aleksandar Cirovic","doi":"10.3390/jpm14101036","DOIUrl":"https://doi.org/10.3390/jpm14101036","url":null,"abstract":"<p><p>The preventability of acute lymphocytic leukemia during childhood is currently receiving great attention, as it is one of the most common cancers in children. Among the known risk factors so far are those affecting the development of gut microbiota, such as a short duration or absence of breastfeeding, cesarean section, a diet lacking in short-chain fatty acids (SCFAs), the use of antibiotics, absence of infection during infancy, and lack of pets, among other factors. Namely, it has been shown that iron deficiency anemia (IDA) and lack of vitamin D may cause intestinal dysbiosis, while at the same time, both increase the risk of hematological malignancies. The presence of IDA and vitamin D deficiency have been shown to lead to a decreased proportion of Firmicutes in stool, which could, as a consequence, lead to a deficit of butyrate. Moreover, children with IDA have increased blood concentrations of cadmium, which induces systemic inflammation and is linked to the onset of an inflammatory microenvironment in the bone marrow. Finally, IDA and Cd exposure increase fibroblast growth factor 23 (FGF23) blood levels, which in turn suppresses vitamin D synthesis. A lack of vitamin D has been associated with a higher risk of ALL onset. In brief, as presented in this review, there are three independent ways in which IDA increases the risk of acute lymphocytic leukemia (ALL) appearance. These are: intestinal dysbiosis, disruption of vitamin D synthesis, and an increased Cd load, which has been linked to systemic inflammation. All of the aforementioned factors could generate the appearance of a second mutation, such as ETV6/RUNX1 (TEL-AML), leading to mutation homozygosity and the onset of disease. ALL has been observed in both IDA and thalassemia. However, as IDA is the most common type of anemia and the majority of published data pertains to it, we will focus on IDA in this review.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502557","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":"Impact of Tocopherol Supplementation on Clinical Parameters of Periodontal Disease: A Systematic Review and Meta-Analysis.","authors":"Bogdan Andrei Bumbu, Magda Mihaela Luca, Roxana Buzatu","doi":"10.3390/jpm14101039","DOIUrl":"https://doi.org/10.3390/jpm14101039","url":null,"abstract":"<p><p><b>Background and Objectives</b>: The significance of periodontal disease as a public health issue prompts the exploration of effective treatments, including the potential use of tocopherol (Vitamin E) due to its anti-inflammatory and antioxidant properties. <b>Materials and Methods</b>: The PICO statement (Population, Intervention, Comparator, Outcome) was as follows: In patients with periodontal disease, does tocopherol (Vitamin E) supplementation compared to no supplementation or insufficient Vitamin E intake improve clinical outcomes such as gingival inflammation, pocket depth, and clinical attachment levels? This study searched through PubMed, Scopus, and Web of Science up to June 2024 focused on studies involving human subjects with various forms of periodontal disease, analyzing the impact of tocopherol through dietary or supplementary intake. Primary outcomes evaluated included improvements in gingival inflammation, pocket depth, and clinical attachment levels, with data synthesis conducted according to PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Quality assessment and risk of bias were meticulously performed for the included observational studies and randomized controlled trials. <b>Results</b>: The meta-analysis incorporated 8 studies that were used for data extraction, totaling 12,832 patients, revealing a heterogeneous response to tocopherol supplementation, with a pooled odds ratio for efficacy in reducing periodontal disease severity at about 0.97 (95% CI: 0.96-0.98). Noteworthy findings indicated a statistically significant increase in clinical attachment loss and pocket depth with odds ratios ranging from 1.15 to 9.33 when Vitamin E was insufficient. However, the considerable heterogeneity (I² = 88.35%) underscores variations in tocopherol's effectiveness across different populations and study designs. <b>Conclusions</b>: While tocopherol supplementation shows a modest benefit in managing periodontal disease, particularly in reducing clinical attachment levels and pocket depth, the variability in outcomes emphasizes the necessity for more research to establish standardized treatment protocols and dosages.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502554","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":"Implementing the Risk Stratification and Clinical Management of Breast Cancer Families Using Polygenic Risk Score Evaluation: A Pilot Study.","authors":"Barbara Rizzacasa, Vanessa Nicolì, Chantal Tancredi, Chiara Conte, Leila B Salehi, Miriam Lucia Carriero, Giuliana Longo, Vincenzo Cirigliano, Luis Izquierdo Lopez, Bibiana Palao, Ilaria Portarena, Oreste Claudio Buonomo, Giuseppe Novelli, Michela Biancolella","doi":"10.3390/jpm14101034","DOIUrl":"https://doi.org/10.3390/jpm14101034","url":null,"abstract":"<p><strong>Background: </strong>The identification of women at high risk of breast cancer (BC) is crucial for personalized screening strategies. Pathogenic and likely pathogenic variants (PVs/LPVs) in susceptibility risk genes explain part of the individual risk. Moreover, a polygenic background, summarized as a polygenic risk score (PRS), contributes to the risk of BC and may modify the individual risk in carrier and non-carrier members of BC families.</p><p><strong>Methods: </strong>We performed a retrospective pilot study evaluating PRS in women from a subset of high- (<i>BRCA1</i> and <i>BRCA2)</i> and moderate-risk (<i>PALB2</i> and <i>ATM</i>) BC families. We included PVs/LPVs carriers and non-carriers and evaluated a PRS based on 577,113 BC-associated variants. Using BOADICEA, we calculated the adjusted lifetime BC risk.</p><p><strong>Results: </strong>Our data showed that in <i>BRCA1/BRCA2</i> carriers, PVs have a major role in stratifying the lifetime risk, while PRS improves risk estimation in non-carriers of these families. A different scenario may be observed in <i>PALB2</i> and <i>ATM</i> families where PRS combined with PV/LPV carrier status gives a more informative lifetime risk.</p><p><strong>Conclusions: </strong>This study showed that in BC families, the PRS might help to quantify the weight of the genetic familial background, improving the individual risk stratification and contributing to personalized clinical management for carrier and non-carrier women.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"14 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508219/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502555","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}