Current Research in Translational Medicine最新文献_第4页

Using machine learning to predict Hemophilia A severity 利用机器学习预测血友病A的严重程度

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-03-17 DOI: 10.1016/j.retram.2025.103508

Daniel de Almeida Duque , Débora Dummer Meira , Lorena Souza Castro Altoé , Matheus Correia Casotti , Tiago José da Silva Lopes , Iuri Drumond Louro , Flávio Miguel Varejão

{"title":"Using machine learning to predict Hemophilia A severity","authors":"Daniel de Almeida Duque , Débora Dummer Meira , Lorena Souza Castro Altoé , Matheus Correia Casotti , Tiago José da Silva Lopes , Iuri Drumond Louro , Flávio Miguel Varejão","doi":"10.1016/j.retram.2025.103508","DOIUrl":"10.1016/j.retram.2025.103508","url":null,"abstract":"<div><div>Hemophilia A is a rare genetic condition that predominantly affects men and is characterized by a deficiency in Factor VIII clotting (FVIII). This research focuses on the development of a classification model to predict the severity of Hemophilia A, using data from point mutations in the FVIII protein. The study employs a variety of classification models, including RandomForest, XGBoost, and LightGBM, and performs a robust analysis of the data to select the most relevant features. The final model achieved an accuracy of 65.5 %, demonstrating significant performance against a simple gaussian naive bayes model that achieves 51.1 % of accuracy. Although the model cannot yet replace the FVIII measurement test in the blood for diagnostic purposes, the results represent a significant advance in Hemophilia A research. This work provides data analysis that deepens the understanding of the characteristics of the FVIII protein and contributes to the development of models capable of classifying the severity of this condition into its three possible classes: mild, moderate, or severe.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 3","pages":"Article 103508"},"PeriodicalIF":3.2,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

VEXAS associated acute disseminated Encephalo-Myelitis (ADEM)-like syndrome: A case report and review of the literature VEXAS相关急性播散性脑脊髓炎（ADEM）样综合征：1例报告及文献回顾

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-03-09 DOI: 10.1016/j.retram.2025.103505

Gregorio Maria Bergonzi , Corrado Campochiaro , Alessandro Tomelleri , Anna Del Poggio , Raffaello Bonacchi , Laura Ferré , Giulia Furnari , Costanza Piccolo , Gianluca Scorpio , Fabio Ciceri , Lorenzo Dagna , Massimo Filippi , Elisa Diral

引用次数: 0

Variability in expression of homeobox genes (HOXA9) and (HOXA7) in acute myeloid leukemia patients 同源盒基因（HOXA9）和（HOXA7）在急性髓系白血病患者中的表达变异性

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-03-04 DOI: 10.1016/j.retram.2025.103503

Zainab Tallima , Dalia Ibraheem , Manal Wilson , Sally Elfishawi

{"title":"Variability in expression of homeobox genes (HOXA9) and (HOXA7) in acute myeloid leukemia patients","authors":"Zainab Tallima , Dalia Ibraheem , Manal Wilson , Sally Elfishawi","doi":"10.1016/j.retram.2025.103503","DOIUrl":"10.1016/j.retram.2025.103503","url":null,"abstract":"<div><div>The strong association between NPM1 mutation and increased expression levels of HOXA7 and HOXA9 implies that HOXA genes may be utilized as targeted treatment markers in NPM1-mutated patients. We examined HOXA7 and HOXA9 gene expression in acute myeloid leukemia (AML) patients with nucleophosmin1 (NPM1) mutation. This study included 91 cases of AML and 23 samples of matched healthy controls. HOXA7 and HOXA9 gene expression was analyzed using real-time PCR with SYBR Green dye. All cases were subjected to NPM1 mutation detection. Both HOXA7 and HOXA9 gene expressions were significantly correlated with age, with adult patients exhibiting substantially higher gene expression than pediatric patients (<em>p</em> < 0.01). Both HOXA7 and HOXA9 high gene expressions were significantly associated with NPM1 mutation (<em>p</em> = 0.032 and <em>p</em> = 0.001, respectively). Adult patients with AML demonstrated a higher level of HOXA9 expression, which has a negative impact on the disease-free survival of NPM1-mutated patients (<em>p</em> = 0.055). Therefore, targeting the HOXA9 pathway presents a highly plausible treatment option for NPM1-mutated adult AML patients.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 2","pages":"Article 103503"},"PeriodicalIF":3.2,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143579114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 of mesenchymal stem cell transplantation therapy to mitigate psoriasis: A systematic review and meta-analysis 间充质干细胞移植治疗缓解银屑病的疗效：一项系统回顾和荟萃分析

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-03-03 DOI: 10.1016/j.retram.2025.103504

Rahul Dey , Amitava Das

{"title":"Efficacy of mesenchymal stem cell transplantation therapy to mitigate psoriasis: A systematic review and meta-analysis","authors":"Rahul Dey , Amitava Das","doi":"10.1016/j.retram.2025.103504","DOIUrl":"10.1016/j.retram.2025.103504","url":null,"abstract":"<div><div>Psoriasis is a chronic inflammatory skin disease characterized by red lesions and skin patches with silvery scales. Overall, 2 - 3 % of the worldwide population is affected by psoriasis. Recent treatment strategies for psoriasis involve Mesenchymal stromal/stem cell (MSC) transplantation instead of conventional treatment with monoclonal antibodies and small molecule drugs. However, studies systematically determining the efficacy of MSC therapy to treat psoriasis are lacking. Three electronic databases, including Cochrane, PubMed, and Web of Science Library, were searched for related studies from 2013 to 2023 using a widespread list of key terms. Among the collected records, duplicates and non-relevant articles were removed by screening the title, abstract, and full text based on the inclusion and exclusion criteria. Data were extracted from the eligible full-text articles to perform the meta-analysis, determining MSC therapy's efficacy in treating psoriasis. In the screening process, five clinical and sixteen preclinical studies, including 1 study with both preclinical and clinical data, showing the efficacy of MSC transplantation therapy to mitigate psoriasis were eligible for the systematic review. The meta-analysis was based on the data extracted from 10 eligible preclinical studies involving 343 animals. Pooled results demonstrated that the Psoriasis Area and Severity Index (PASI) score and the epidermal thickness of the psoriatic plaques in the animals post-MSC transplantation were significantly reduced. Our meta-analysis showed the efficacy of MSC transplantation therapies in mitigating psoriasis in preclinical animal models. Thus, further clinical research is warranted to translate these findings from bench to bedside.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 2","pages":"Article 103504"},"PeriodicalIF":3.2,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143563471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Denutrition status prevails over a standard AML risk assessment in older adults 在老年人中，营养不良状况比标准AML风险评估更重要

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-02-06 DOI: 10.1016/j.retram.2025.103500

Laura Simon , Alexis Caulier , Céline Berthon , Thomas Boyer , Véronique Harrivel , Magalie Joris , Isabelle Leduc , Nicolas Duployez , Claude Preudhomme , Jean-Pierre Marolleau , Delphine Lebon

{"title":"Denutrition status prevails over a standard AML risk assessment in older adults","authors":"Laura Simon , Alexis Caulier , Céline Berthon , Thomas Boyer , Véronique Harrivel , Magalie Joris , Isabelle Leduc , Nicolas Duployez , Claude Preudhomme , Jean-Pierre Marolleau , Delphine Lebon","doi":"10.1016/j.retram.2025.103500","DOIUrl":"10.1016/j.retram.2025.103500","url":null,"abstract":"<div><div>Older adults with acute myeloid leukemia (AML) have a poor prognosis because frailty and the characteristics of the disease limit the use of intensive chemotherapy (ICT). Treatment with 5-azacitidine (5-AZA) or low-dose cytarabine (Cytarabine) (LDAC) – with or without venetoclax – is currently recommended in this setting. However, we lack real-life data on response rates and treatment outcomes.</div><div>We conducted a retrospective, multicenter registry study of 279 older adults with AML (median [interquartile range (IQR)] age: 76 [70–81]) having undergone first-line treatment with LDAC (<em>n</em> = 87) or 5-AZA (<em>n</em> = 192) between 2009 and 2019 (i.e. mainly before the venetoclax era) in a university medical center in France. The complete remission rate was 27.3 % overall. After a median follow-up period of 6.9 months, the median [IQR] overall survival (OS) time was shorter in the LDAC group (4.8 months [2.13–14.41]) than in the 5-AZA group (8.9 months [3.2–13.5]; <em>p</em> = 0.046). Ultimately, however, the OS rates were similar in the LDAC and 5-AZA groups (hazard ratio [HR]: 95 % confidence interval [CI]: 1.37 [0.92–2.04], <em>p</em> = 0.12).</div><div>None of the conventional markers with prognostic value in younger patients receiving ICT (such as those in the European LeukemiaNet classification) appeared to predict the outcome in our population of older patients. Albumin <30 g/L was the only factor that predicted day-30 mortality and OS (adjusted odds ratio [95 %CI]: 6.25 [2.08 – 20.0]; <em>p</em> < 0.001; adjusted HR [95 %CI]: 0.65 [0.44–0.96]; <em>p</em> = 0.030).</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 2","pages":"Article 103500"},"PeriodicalIF":3.2,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143387412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

AI-assisted computational screening and docking simulation prioritize marine natural products for small-molecule PCSK9 inhibition 人工智能辅助的计算筛选和对接模拟优先考虑小分子PCSK9抑制的海洋天然产物

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-02-04 DOI: 10.1016/j.retram.2025.103498

Neelakandan Annamalai Ramalakshmi , Muthu Kumar Thirunavukkarasu , Fayaz Shaik , Krishna Navami , Rajanikant Golgodu Krishnamurthy

{"title":"AI-assisted computational screening and docking simulation prioritize marine natural products for small-molecule PCSK9 inhibition","authors":"Neelakandan Annamalai Ramalakshmi , Muthu Kumar Thirunavukkarasu , Fayaz Shaik , Krishna Navami , Rajanikant Golgodu Krishnamurthy","doi":"10.1016/j.retram.2025.103498","DOIUrl":"10.1016/j.retram.2025.103498","url":null,"abstract":"<div><div>SARS-CoV-2 infection has been associated with long-term cardiovascular complications including myocarditis and heart failure, as well as central nervous system sequelae such as cognitive dysfunction and neuropathy. Proprotein convertase subtilisin/Kexin type 9 (PCSK9), a hepatic protease involved in cholesterol regulation, has shown associations with a spectrum of diseases potentially relevant to these Covid-19 complications, such as atherosclerosis. To identify novel human PCSK9 inhibitors, a custom virtual screening pipeline was developed employing (1) a convolutional neural network-based deep learning model, (2) molecular docking using Schrödinger with Glide scoring function, and (3) molecular dynamics (MD) simulations with Gibbs Free Energy Landscape analysis. The deep learning model was trained on a dataset of known central nervous system, cardiovascular, and anti-inflammatory acting drugs and used to screen the CMNPD database. Docking simulations were performed on shortlisted candidates, followed by MD simulations and free energy landscape analysis to evaluate binding affinities and identify key interaction residues. This multi-step in-silico approach identified promising PCSK9 inhibitor candidates with favorable binding profiles, suggesting that AI-assisted virtual screening can be a powerful tool for discovering novel therapeutic agents.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 2","pages":"Article 103498"},"PeriodicalIF":3.2,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143387413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Post-transplant cyclophosphamide in matched donor transplantation: are we there yet? 移植后环磷酰胺在匹配供体移植中的应用：我们做到了吗？

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-02-03 DOI: 10.1016/j.retram.2025.103499

Lorenzo Lazzari , Gloria Catalano , Alessandro Bruno , Daniele Sannipoli , Maria Teresa Lupo-Stanghellini , Jacopo Peccatori , Fabio Ciceri , Raffaella Greco

{"title":"Post-transplant cyclophosphamide in matched donor transplantation: are we there yet?","authors":"Lorenzo Lazzari , Gloria Catalano , Alessandro Bruno , Daniele Sannipoli , Maria Teresa Lupo-Stanghellini , Jacopo Peccatori , Fabio Ciceri , Raffaella Greco","doi":"10.1016/j.retram.2025.103499","DOIUrl":"10.1016/j.retram.2025.103499","url":null,"abstract":"<div><div>Graft-versus-host disease (GvHD) is a frequent cause of morbidity and mortality after allogeneic hematopoietic stem cell transplantation (alloHCT) and optimal approaches for its prevention have been recently updated. Post-transplant cyclophosphamide (PTCy) has demonstrated impressive results in the setting of haploidentical donor transplantation, allowing for a more widespread application of alloHCT. For this reason, over the years, several groups have implemented the use of PTCy in the context of transplantation from HLA-matched related and unrelated donors, as a replacement for standard GvHD prophylaxis based on calcineurin inhibitors and methotrexate. With increasing results from retrospective studies and new insights from prospective clinical trials, this comprehensive reevaluation of the literature aims to clarify the precise role of PTCy in this context. This review will summarize and critically discuss the overall results of the use of PTCy in alloHCT from HLA-matched donors, unmet needs, and future perspectives.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 2","pages":"Article 103499"},"PeriodicalIF":3.2,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143350451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Trends in drug repurposing: Advancing cardiovascular disease management in geriatric populations 药物再利用趋势：推进老年人群心血管疾病管理。

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-01-17 DOI: 10.1016/j.retram.2025.103496

Murali Krishna Moka , Melvin George , Deepalaxmi Rathakrishnan , V Jagadeeshwaran , Sriram D K

{"title":"Trends in drug repurposing: Advancing cardiovascular disease management in geriatric populations","authors":"Murali Krishna Moka , Melvin George , Deepalaxmi Rathakrishnan , V Jagadeeshwaran , Sriram D K","doi":"10.1016/j.retram.2025.103496","DOIUrl":"10.1016/j.retram.2025.103496","url":null,"abstract":"<div><div>Drug repurposing is a promising strategy for managing cardiovascular disease (CVD) in geriatric populations, offering efficient and cost-effective solutions. CVDs are prevalent across all age groups, with a significant increase in prevalence among geriatric populations. The middle-age period (40–65 years) is critical due to factors like obesity, sedentary lifestyle, and psychosocial stress. In individuals aged 65 and older, the incidence of CVDs is highest due to age-related physiological changes and prolonged exposure to risk factors. In this review we find that certain drugs, such as non-cardiovascular drugs like anakinra, probenecid, N-acetyl cysteine, quercetin, resveratrol, rapamycin, colchicine, bisphosphonates, hydroxychloroquine, SGLT-2i drugs, GLP-1Ras drugs and sildenafil are recommended for drug repurposing to achieve cardiovascular benefits in geriatric patients. However, agents such as canakinumab, methotrexate, ivermectin, erythromycin, capecitabine, carglumic acid, chloroquine, and furosemide are constrained in their therapeutic use and warrant meticulous consideration, rendering them less favorable for this specific application. This review emphasizes the importance of exploring alternative therapeutic strategies to improve outcomes in geriatric populations and suggests drug repurposing as a promising avenue to enhance treatment efficacy.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 2","pages":"Article 103496"},"PeriodicalIF":3.2,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Identifying potential prognosis markers in relapsed multiple myeloma via integrated bioinformatics analysis and biological experiments 通过综合生物信息学分析和生物学实验确定复发性多发性骨髓瘤的潜在预后标志物。

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-01-12 DOI: 10.1016/j.retram.2025.103495

Yong Xu , Xinya Cao , He Zhou , Han Xu , Bing Chen , Hua Bai

{"title":"Identifying potential prognosis markers in relapsed multiple myeloma via integrated bioinformatics analysis and biological experiments","authors":"Yong Xu , Xinya Cao , He Zhou , Han Xu , Bing Chen , Hua Bai","doi":"10.1016/j.retram.2025.103495","DOIUrl":"10.1016/j.retram.2025.103495","url":null,"abstract":"<div><h3>Background</h3><div>Almost all multiple myeloma (MM) patients will eventually develop disease that has relapsed with or become refractory to current therapeutic regimes. However, the pervious clinical parameters have been proved inaccurate for defining MM relapse, and molecular targets have become the focuses of interests. Prognostic predictions based on molecular targets have been more effective to this day. Our research was performed to demonstrate hub genes involving relapsed MM by bioinformatics and biological experiments.</div></div><div><h3>Methods and results</h3><div>The integrated bioinformatics analysis in baseline and relapsed MM patients were executed. Gene Ontology (GO) enrichment analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were utilized to analyze biologic functions of up-regulated differentially expressed genes (DEGs). Four hub genes (CENPE, ASPM, TOP2A and FANCI) were adopted for construction of relapsed gene score model (RGS), and RGS model was evaluated in two testing sets. The CENPE inhibitor GSK923295 had anti-myeloma effect, including promoting cell death, cell cycle arrest and DNA damage of MM cell lines.</div></div><div><h3>Conclusion</h3><div>Through bioinformatics analysis, we found that the four hub genes (CENPE, ASPM, TOP2A and FANCI) were associated to cell cycle, nuclear division, mitosis and spindle. Our research provided proof-of-concept that RGS model could be utilized to estimate recurrence risk and prognosis for patients, and targeting CENPE contributed to developing novel therapeutic pattern for MM.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 2","pages":"Article 103495"},"PeriodicalIF":3.2,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143016497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Advances in the relationship of immune checkpoint inhibitors and DNA damage repair 免疫检查点抑制剂与DNA损伤修复关系的研究进展。

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-01-11 DOI: 10.1016/j.retram.2025.103494

Xiaolin Liu , Shan Wang , Hongwei Lv , Enli Chen , Li Yan , Jing Yu

引用次数: 0