Epma Journal最新文献

{"title":"Resveratrol: potential application in safeguarding testicular health","authors":"Xu Zhang, Ruhan Yi, Yun Liu, Jiaxuan Ma, Jiawei Xu, Qing Tian, Xinyu Yan, Shaopeng Wang, Guang Yang","doi":"10.1007/s13167-024-00377-1","DOIUrl":"https://doi.org/10.1007/s13167-024-00377-1","url":null,"abstract":"<p>Factors such as increasing mental pressure and poor living habits in modern society have led to an increase in the incidence of male reproductive diseases, including poor semen quality, testicular malignancy, and congenital developmental defects. The decline of male fertility deserves our attention. Resveratrol (3,4′, 5-trihydroxy-trans-Stilbene, 3,4′,5-trihydroxy), a polyphenol widely found in plant foods, is expected to enhance testicular function and promote breakthroughs in the treatment of diseases related to the male reproductive system. A large number of studies have shown that in male animals, resveratrol can enhance testicular function and spermatogenesis by activating SIRT1 expression and resist the damage of the testicular system by adverse factors. This article reviews the basic protective pathways of resveratrol against testicular and sperm damage, which involve oxidative stress, cell apoptosis, inflammatory damage, and mitochondrial function. The healthcare framework of predictive, preventive, and personalized medicine (PPPM/3PM) is by far the most beneficial for healthcare and is suitable for the management of chronic diseases. This review also summarizes the health benefits of resveratrol on male reproduction in the context of PPPM/3PM by comprehensively collecting and reviewing the available evidence, thus leading to a working hypothesis that resveratrol can personalize prevention and protection of male reproductive function. It provides a new perspective and direction for future research on the health effects of resveratrol in improving male reproductive function.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":null,"pages":null},"PeriodicalIF":6.5,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142205788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of ChatGPT-4 to oculomics: a cost-effective osteoporosis risk assessment to enhance management as a proof-of-principles model in 3PM","authors":"Joon Yul Choi, Eoksoo Han, Tae Keun Yoo","doi":"10.1007/s13167-024-00378-0","DOIUrl":"https://doi.org/10.1007/s13167-024-00378-0","url":null,"abstract":"&lt;h3 data-test=\"abstract-sub-heading\"&gt;Background&lt;/h3&gt;&lt;p&gt;Oculomics is an emerging medical field that focuses on the study of the eye to detect and understand systemic diseases. ChatGPT-4 is a highly advanced AI model with multimodal capabilities, allowing it to process text and statistical data. Osteoporosis is a chronic condition presenting asymptomatically but leading to fractures if untreated. Current diagnostic methods like dual X-ray absorptiometry (DXA) are costly and involve radiation exposure. This study aims to develop a cost-effective osteoporosis risk prediction tool using ophthalmological data and ChatGPT-4 based on oculomics, aligning with predictive, preventive, and personalized medicine (3PM) principles.&lt;/p&gt;&lt;h3 data-test=\"abstract-sub-heading\"&gt;Working hypothesis and methods&lt;/h3&gt;&lt;p&gt;We hypothesize that leveraging ophthalmological data (oculomics) combined with AI-driven regression models developed by ChatGPT-4 can significantly improve the predictive accuracy for osteoporosis risk. This integration will facilitate earlier detection, enable more effective preventive strategies, and support personalized treatment plans tailored to individual patients. We utilized DXA and ophthalmological data from the Korea National Health and Nutrition Examination Survey to develop and validate osteopenia and osteoporosis prediction models. Ophthalmological and demographic data were integrated into logistic regression analyses, facilitated by ChatGPT-4, to create prediction formulas. These models were then converted into calculator software through automated coding by ChatGPT-4.&lt;/p&gt;&lt;h3 data-test=\"abstract-sub-heading\"&gt;Results&lt;/h3&gt;&lt;p&gt;ChatGPT-4 automatically developed prediction models based on key predictors of osteoporosis and osteopenia included age, gender, weight, and specific ophthalmological conditions such as cataracts and early age-related macular degeneration, and successfully implemented a risk calculator tool. The oculomics-based models outperformed traditional methods, with area under the curve of the receiver operating characteristic values of 0.785 for osteopenia and 0.866 for osteoporosis in the validation set. The calculator demonstrated high sensitivity and specificity, providing a reliable tool for early osteoporosis screening.&lt;/p&gt;&lt;h3 data-test=\"abstract-sub-heading\"&gt;Conclusions and expert recommendations in the framework of 3PM&lt;/h3&gt;&lt;p&gt;This study illustrates the value of integrating ophthalmological data into multi-level diagnostics for osteoporosis, significantly improving the accuracy of health risk assessment and the identification of at-risk individuals. Aligned with the principles of 3PM, this approach fosters earlier detection and enables the development of individualized patient profiles, facilitating personalized and targeted treatment strategies. This study also highlights the potential of AI, specifically ChatGPT-4, in developing accessible, cost-effective, and radiation-free screening tools for advancing 3PM in clinical pract","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":null,"pages":null},"PeriodicalIF":6.5,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142205805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of the weight-adjusted waist index with hypertension in the context of predictive, preventive, and personalized medicine","authors":"Qi Sun, Yang Yang, Jing Liu, F. Ye, Qin Hui, Yuanmei Chen, Die Liu, Qi Zhang","doi":"10.1007/s13167-024-00375-3","DOIUrl":"https://doi.org/10.1007/s13167-024-00375-3","url":null,"abstract":"","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":null,"pages":null},"PeriodicalIF":6.5,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141920964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The caregiving role influences Suboptimal Health Status and psychological symptoms in unpaid carers","authors":"Monique Garcia, Zheng Guo, Yulu Zheng, Zhiyuan Wu, Ethan Visser, Lois Balmer, Wei Wang","doi":"10.1007/s13167-024-00370-8","DOIUrl":"https://doi.org/10.1007/s13167-024-00370-8","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Suboptimal Health Status (SHS) is the physical state between health and disease. This study aimed to fill in the knowledge gap by investigating the prevalence of SHS and psychological symptoms among unpaid carers and to identify SHS-risk factors from the perspective of predictive, preventive and personalised medicine (PPPM).</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>A cross-sectional study was conducted among 368 participants who were enrolled from Australia, including 203 unpaid carers as cases and 165 individuals from the general population as controls. SHS scores were measured using SHSQ-25 (Suboptimal Health Status Questionnaire-25), whilst psychological symptoms were measured by DASS-21 (Depression, Anxiety and Stress Scale-21). Chi-square was used to measure SHS and psychological symptom prevalence. Spearman correlation analysis was utilised to identify the relationship between SHSQ-25 and DASS-21 scores. Logistic regression analysis was used for multivariate analysis.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>The prevalence of SHS in carers was 43.0% (98/203), significantly higher than the prevalence 12.7% (21/165) in the general population (<i>p</i> &lt; 0.001). In addition, suboptimal health prevalence was higher in female carers (50.3%; 95/189) than females in the general population (12.4%; 18/145). Logistic regression showed that the caregiving role influenced SHS, with carers 6.4 times more likely to suffer from SHS than their non-caring counterparts (aOR = 6.400, 95% CI = 3.751–10.919).</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>Unpaid carers in Australia have a significantly higher prevalence of SHS than that in the general population and experience poorer health. The SHSQ-25 is a powerful tool that can be utilised to screen at-risk individuals to predict their risk of chronic disease development, an essential pillar for shifting the paradigm change from reactive medicine to that of predictive, preventive and personalised medicine (PPPM).</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":null,"pages":null},"PeriodicalIF":6.5,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141867061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Liver function maximum capacity test during normothermic regional perfusion predicts graft function after transplantation","authors":"I. Schurink, Femke de Goeij, Fenna J. van der Heijden, Rutger M. van Rooden, Madeleine C. van Dijk, Wojciech G Polak, Luc J. W. van der Laan, V. Huurman, J. de Jonge","doi":"10.1007/s13167-024-00371-7","DOIUrl":"https://doi.org/10.1007/s13167-024-00371-7","url":null,"abstract":"","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":null,"pages":null},"PeriodicalIF":6.5,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141643776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic association of lipid traits and lipid-related drug targets with normal tension glaucoma: a Mendelian randomization study for predictive preventive and personalized medicine","authors":"Tianyi Kang, Yi Zhou, Cong Fan, Yue Zhang, Yu Yang, Jian Jiang","doi":"10.1007/s13167-024-00373-5","DOIUrl":"https://doi.org/10.1007/s13167-024-00373-5","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Glaucoma is the leading cause of irreversible blindness worldwide. Normal tension glaucoma (NTG) is a distinct subtype characterized by intraocular pressures (IOP) within the normal range (&lt; 21 mm Hg). Due to its insidious onset and optic nerve damage, patients often present with advanced conditions upon diagnosis. NTG poses an additional challenge as it is difficult to identify with normal IOP, complicating its prediction, prevention, and treatment. Observational studies suggest a potential association between NTG and abnormal lipid metabolism, yet conclusive evidence establishing a direct causal relationship is lacking. This study aims to explore the causal link between serum lipids and NTG, while identifying lipid-related therapeutic targets. From the perspective of predictive, preventive, and personalized medicine (PPPM), clarifying the role of dyslipidemia in the development of NTG could provide a new strategy for primary prediction, targeted prevention, and personalized treatment of the disease.</p><h3 data-test=\"abstract-sub-heading\">Working hypothesis and methods</h3><p>In our study, we hypothesized that individuals with dyslipidemia may be more susceptible to NTG due to a dysregulation of microvasculature in optic nerve head. To verify the working hypothesis, univariable Mendelian randomization (UVMR) and multivariable Mendelian randomization (MVMR) were utilized to estimate the causal effects of lipid traits on NTG. Drug target MR was used to explore possible target genes for NTG treatment. Genetic variants associated with lipid traits and variants of genes encoding seven lipid-related drug targets were extracted from the Global Lipids Genetics Consortium genome-wide association study (GWAS). GWAS data for NTG, primary open angle glaucoma (POAG), and suspected glaucoma (GLAUSUSP) were obtained from FinnGen Consortium. For apolipoproteins, we used summary statistics from a GWAS study by Kettunen et al. in 2016. For metabolic syndrome, summary statistics were extracted from UK Biobank participants. In the end, these findings could help identify individuals at risk of NTG by screening for lipid dyslipidemia, potentially leading to new targeted prevention and personalized treatment approaches.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Genetically assessed high-density cholesterol (HDL) was negatively associated with NTG risk (inverse-variance weighted [IVW] model: OR per SD change of HDL level = 0.64; 95% CI, 0.49–0.85; <i>P</i> = 1.84 × 10⁻³), and the causal effect was independent of apolipoproteins and metabolic syndrome (IVW model: OR = 0.29; 95% CI, 0.14–0.60; <i>P</i> = 0.001 adjusted by ApoB and ApoA1; OR = 0.70; 95% CI, 0.52–0.95; <i>P</i> = 0.023 adjusted by BMI, HTN, and T2DM). Triglyceride (TG) was positively associated with NTG risk (IVW model: OR = 1.62; 95% CI, 1.15–2.29; <i>P</i> = 6.31 × 10⁻³), and the causal effect was independent of","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":null,"pages":null},"PeriodicalIF":6.5,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141612265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial intelligence in ovarian cancer drug resistance advanced 3PM approach: subtype classification and prognostic modeling","authors":"Cong Zhang, Jinxiang Yang, Siyu Chen, Lichang Sun, Kangjie Li, Guichuan Lai, Bin Peng, Xiaoni Zhong, Biao Xie","doi":"10.1007/s13167-024-00374-4","DOIUrl":"https://doi.org/10.1007/s13167-024-00374-4","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Ovarian cancer patients’ resistance to first-line treatment posed a significant challenge, with approximately 70% experiencing recurrence and developing strong resistance to first-line chemotherapies like paclitaxel.</p><h3 data-test=\"abstract-sub-heading\">Objectives</h3><p>Within the framework of predictive, preventive, and personalized medicine (3PM), this study aimed to use artificial intelligence to find drug resistance characteristics at the single cell, and further construct the classification strategy and deep learning prognostic models based on these resistance traits, which can better facilitate and perform 3PM.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>This study employed “Beyondcell,” an algorithm capable of predicting cellular drug responses, to calculate the similarity between the expression patterns of 21,937 cells from ovarian cancer samples and the signatures of 5201 drugs to identify drug-resistance cells. Drug resistance features were used to perform 10 multi-omics clustering on the TCGA training set to identify patient subgroups with differential drug responses. Concurrently, a deep learning prognostic model with KAN architecture which had a flexible activation function to better fit the model was constructed for this training set. The constructed patient subtype classifier and prognostic model were evaluated using three external validation sets from GEO: GSE17260, GSE26712, and GSE51088.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>This study identified that endothelial cells are resistant to paclitaxel, doxorubicin, and docetaxel, suggesting their potential as targets for cellular therapy in ovarian cancer patients. Based on drug resistance features, 10 multi-omics clustering identified four patient subtypes with differential responses to four chemotherapy drugs, in which subtype CS2 showed the highest drug sensitivity to all four drugs. The other subtypes also showed enrichment in different biological pathways and immune infiltration, allowing for targeted treatment based on their characteristics. Besides, this study applied the latest KAN architecture in artificial intelligence to replace the MLP structure in the DeepSurv prognostic model, finally demonstrating robust performance on patients’ prognosis prediction.</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>This study, by classifying patients and constructing prognostic models based on resistance characteristics to first-line drugs, has effectively applied multi-omics data into the realm of 3PM.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":null,"pages":null},"PeriodicalIF":6.5,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141612264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Eyecare-cloud: an innovative electronic medical record cloud platform for pediatric research and clinical care","authors":"Xinyu Zhao, Zhenquan Wu, Yaling Liu, Honglang Zhang, Yarou Hu, Duo Yuan, Xiayuan Luo, Mianying Zheng, Zhen Yu, Dahui Ma, Guoming Zhang","doi":"10.1007/s13167-024-00372-6","DOIUrl":"https://doi.org/10.1007/s13167-024-00372-6","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background and objectives</h3><p>Clinical data are essential for developing cloud platforms for intelligent diagnosis and treatment decision of diseases. However, cloud platforms for data sharing and exchange with clinicians are poorly suited. We aim to establish Eyecare-cloud, a platform which provide a novel method for clinical data and medical image sharing, to provide a convenient tool for clinicians.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>In this study, we displayed the main functions of Eyecare-cloud that we established. Based on clinical data from the cloud platform, we analyzed the incidence trend of the most common infantile retinal diseases, such as retinopathy of prematurity (ROP), over the past 20 years, as well as the associated risk factors for ROP occurrence. Statistical analyses were performed using GraphPad Prism (V.8.0) and SPSS software (V.26.0).</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>The Eyecare-cloud offers numerous advantages, including systematic archiving of patient information, one-click export data, simplifying data collection and management, eliminating the need for manual input of clinical information, reducing clinical data migration time, and lowering data management costs significantly. A total of 22,913 premature infants from Eyecare-cloud were included in the data analysis. Based on 20 years of premature infant screening data analysis, we found that the ROP incidence began to slowly decline starting in 2003 but showed a gradual increase trend again in 2016. The incidence of severe ROP remained relatively stable at a low level since 2010. The number of premature infants increased steadily before 2016 but decreased since then. ROP occurrence was significantly associated with male sex, lower gestational age, and lower birth weight (<i>P</i> &lt; 0.001).</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>Eyecare-cloud provides clinicians and researchers with convenient tools for big data analysis, which helps alleviate clinical workloads and integrate research data. This cloud platform supports the principles of predictive, preventive, and personalized medicine (PPPM/3PM), empowering clinicians and researchers to deliver more precise, proactive, and patient-centered eye care.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":null,"pages":null},"PeriodicalIF":6.5,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141587302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Towards a personalized prediction, prevention and therapy of insomnia: gut microbiota profile can discriminate between paradoxical and objective insomnia in post-menopausal women","authors":"M. Barone, Morena Martucci, Giuseppe Sciara, M. Conte, Laura Smeldy Jurado Medina, Lorenzo Iattoni, Filomena Miele, Cristina Fonti, Claudio Franceschi, P. Brigidi, S. Salvioli, Federica Provini, S. Turroni, A. Santoro","doi":"10.1007/s13167-024-00369-1","DOIUrl":"https://doi.org/10.1007/s13167-024-00369-1","url":null,"abstract":"","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":null,"pages":null},"PeriodicalIF":6.5,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141378399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unraveling progression subtypes in people with Huntington’s disease","authors":"Tamara Raschka, Zexin Li, Heiko Gaßner, Zacharias Kohl, Jelena Jukic, Franz Marxreiter, Holger Fröhlich","doi":"10.1007/s13167-024-00368-2","DOIUrl":"https://doi.org/10.1007/s13167-024-00368-2","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Huntington’s disease (HD) is a progressive neurodegenerative disease caused by a CAG trinucleotide expansion in the huntingtin gene. The length of the CAG repeat is inversely correlated with disease onset. HD is characterized by hyperkinetic movement disorder, psychiatric symptoms, and cognitive deficits, which greatly impact patient’s quality of life. Despite this clear genetic course, high variability of HD patients’ symptoms can be observed. Current clinical diagnosis of HD solely relies on the presence of motor signs, disregarding the other important aspects of the disease. By incorporating a broader approach that encompasses motor as well as non-motor aspects of HD, predictive, preventive, and personalized (3P) medicine can enhance diagnostic accuracy and improve patient care.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>Multisymptom disease trajectories of HD patients collected from the Enroll-HD study were first aligned on a common disease timescale to account for heterogeneity in disease symptom onset and diagnosis. Following this, the aligned disease trajectories were clustered using the previously published Variational Deep Embedding with Recurrence (VaDER) algorithm and resulting progression subtypes were clinically characterized. Lastly, an AI/ML model was learned to predict the progression subtype from only first visit data or with data from additional follow-up visits.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Results demonstrate two distinct subtypes, one large cluster (<i>n</i> = 7122) showing a relative stable disease progression and a second, smaller cluster (<i>n</i> = 411) showing a dramatically more progressive disease trajectory. Clinical characterization of the two subtypes correlates with CAG repeat length, as well as several neurobehavioral, psychiatric, and cognitive scores. In fact, cognitive impairment was found to be the major difference between the two subtypes. Additionally, a prognostic model shows the ability to predict HD subtypes from patients’ first visit only.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>In summary, this study aims towards the paradigm shift from reactive to preventive and personalized medicine by showing that non-motor symptoms are of vital importance for predicting and categorizing each patients’ disease progression pattern, as cognitive decline is oftentimes more reflective of HD progression than its motor aspects. Considering these aspects while counseling and therapy definition will personalize each individuals’ treatment. The ability to provide patients with an objective assessment of their disease progression and thus a perspective for their life with HD is the key to improving their quality of life. By conducting additional analysis on biological data from both subtypes, it is possible to gain a deeper understanding of these subtypes and uncover the underlying biological factors of the disease. T","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":null,"pages":null},"PeriodicalIF":6.5,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141165624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}