Current Research in Translational Medicine最新文献_第7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 : 2025-07-01 Epub 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":"2025-07-01","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

Therapeutic promise of CRISPR-Cas9 gene editing in sickle cell disease and β-thalassemia: A current review CRISPR-Cas9基因编辑在镰状细胞病和β-地中海贫血中的治疗前景：最新综述

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-07-01 Epub Date: 2025-04-12 DOI: 10.1016/j.retram.2025.103513

Hassan H. Almasoudi

{"title":"Therapeutic promise of CRISPR-Cas9 gene editing in sickle cell disease and β-thalassemia: A current review","authors":"Hassan H. Almasoudi","doi":"10.1016/j.retram.2025.103513","DOIUrl":"10.1016/j.retram.2025.103513","url":null,"abstract":"<div><div>Sickle cell disease (SCD and β-thalassemia (BT) affects millions of people worldwide. In addition, around 500,000 infants are born with SCD and 60,000 people are diagnosed with BT every year. Mutations in the <em>hemoglobin subunit beta (HBB)</em> gene are responsible for causing both BT and SCD. Indeed, the diversity of potential mutations in the <em>HBB</em> gene elucidates the diversity in clinical severity observed in individuals with BT and related morbidities. On the other hand, SCD takes place because of the alteration in a single amino acid at position 6 in the beta-globin chain, where a base substitution occurs from glutamic acid to valine, which eventually results in abnormal sickle hemoglobin. Conventional therapies for BT and SCD including pharmaceutical drugs and blood transfusion might temporarily improve the clinical severity of these diseases, however these therapies cannot cure the diseases. CRISPR-Cas9 (CC9) is revolutionizing genome engineering, offering promising therapeutic avenues for genetic diseases. Therefore, CC9-mediated gene therapy provides great hope in the treatment of both BT and SCD. CC9-mediated gene therapy has already demonstrated its effectiveness in correcting both SCD and BT-causing mutations. Moreover, CC9-mediated gene editing was found to be effective in reactivating the expression of <em>hemoglobin F (HbF)</em> and regulating <em>LRF</em> and <em>BCL11A</em>. A number of clinical trials with CC9 gene-edited therapies are being carried out to elucidate their potential in treating BT and SCD. Genetics and pathophysiological mechanisms of SCD and BT, the mechanism of CC9-mediated gene editing, and common delivery methods of the CC9 system have been discussed in this review. Moreover, an in-depth discussion on applications and the current status of CC9-mediated gene editing in SCD and BT along with current challenges and future perspectives have been provided.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 3","pages":"Article 103513"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143842882","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

Anthracycline and arsenic trioxide-based regimens for the treatment of acute promyelocytic leukemia: thiamine levels monitoring importance 蒽环类药物和三氧化二砷治疗急性早幼粒细胞白血病：硫胺素水平监测的重要性

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-07-01 Epub Date: 2025-05-19 DOI: 10.1016/j.retram.2025.103520

Reda Garidi, Hassina Aftisse, Djedjiga Si Tayeb, Chahrazad Benchchouk, Nadia Sari Hassoun, Assia Alem, Tamim Alsuliman

引用次数: 0

A novel complex mutation in the exon 9 of CALR gene: p.E381fs*52 (gagg_CCTCTTTGCCTC) CALR基因外显子9复杂突变p.E381fs*52 （gagg_CCTCTTTGCCTC）

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-07-01 Epub Date: 2025-04-15 DOI: 10.1016/j.retram.2025.103514

Alessandro Laganà, Claudia Ielo, Sonia Buffolino, Attilio Di Lascio, Luisa Bizzoni, Emilia Scalzulli, Ida Carmosino, Maria Laura Bisegna, Daniela Diverio, Massimo Breccia

引用次数: 0

Immune cell dysfunction: A critical player in development of diabetes complications 免疫细胞功能障碍：糖尿病并发症发生的关键因素

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-07-01 Epub Date: 2025-03-29 DOI: 10.1016/j.retram.2025.103510

Mohamed J. Saadh , Omer Qutaiba B. Allela , Radhwan Abdul Kareem , Ashishkumar Kyada , H. Malathi , Deepak Nathiya , Deepak Bhanot , Hayder Naji Sameer , Atheer Khdyair Hamad , Zainab H. Athab , Mohaned Adil

{"title":"Immune cell dysfunction: A critical player in development of diabetes complications","authors":"Mohamed J. Saadh , Omer Qutaiba B. Allela , Radhwan Abdul Kareem , Ashishkumar Kyada , H. Malathi , Deepak Nathiya , Deepak Bhanot , Hayder Naji Sameer , Atheer Khdyair Hamad , Zainab H. Athab , Mohaned Adil","doi":"10.1016/j.retram.2025.103510","DOIUrl":"10.1016/j.retram.2025.103510","url":null,"abstract":"<div><div>Diabetes mellitus, a global health challenge, influences millions worldwide by leading to severe complications and premature death. A key factor in its pathogenesis is immune cell dysfunction, which aggravates both type 1 and type 2 diabetes. The important role that immune cell dysregulation plays in the emergence of diabetes complications is investigated in this research. It highlights the manner in which diabetes compromises the immune system's adaptive as well as innate responses. Key defects in innate immunity include impaired pathogen recognition, and dysfunctional behavior of macrophages, neutrophils, and natural killer (NK) cells. Additionally, the complement system is dysregulated, and cytokine production is altered, affecting overall immune signaling. The study investigates the dysfunction of several T and B cell subsets, such as CD4+ T cells, CD8+ T cells, regulatory T cells, and B cells, in relation to adaptive immunity. These dysfunctions collectively contribute to chronic inflammation, reduced pathogen clearance, and increased susceptibility to infections, ultimately exacerbating diabetes complications. Developing targeted therapies to reduce diabetes complications and enhance patient outcomes requires an understanding of these mechanisms.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 3","pages":"Article 103510"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143918500","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

Multidimensional evaluation of CMV-specific T Cells: enhancing therapy through transcriptional insights cmv特异性T细胞的多维评估：通过转录的见解增强治疗

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-07-01 Epub Date: 2025-04-29 DOI: 10.1016/j.retram.2025.103517

Changchang Sun , Mingli Xu , Min Yan , Meiying Shen , Xiaojian Han , Hongbin Zhang , Chao Hu , Yingming Wang , Wang Wang , Aishun Jin , Yingying Wang

{"title":"Multidimensional evaluation of CMV-specific T Cells: enhancing therapy through transcriptional insights","authors":"Changchang Sun , Mingli Xu , Min Yan , Meiying Shen , Xiaojian Han , Hongbin Zhang , Chao Hu , Yingming Wang , Wang Wang , Aishun Jin , Yingying Wang","doi":"10.1016/j.retram.2025.103517","DOIUrl":"10.1016/j.retram.2025.103517","url":null,"abstract":"<div><div>Adoptive immunotherapy with CMV-specific T cells (CMV-VSTs) has shown favorable efficacy and minimal adverse effects in clinical settings, serving as prophylaxis, preemptive and/or curative treatment for the restoration of CMV-specific immunity in patients after allogeneic hematopoietic stem cell transplantation. The establishment of a CMV-VST bank enables the prompt use of CMV-VSTs as off-the-shelf therapeutics. CMV-VSTs can be generated through cell culture or immunomagnetic selection based on IFN-γ secretion or multimer technology. In this study, we investigated the feasibility of generating CMV-VSTs via cell expansion after IFN-γ based immunomagnetic isolation, with the goal of establishing a good-quality, cost-effective local production approach. We also assessed the value of incorporating transcriptomic analysis into the current T cell evaluation framework. Our results demonstrate that good-quality CMV-VSTs can be produced using either autologous feeder cells or feeder cells from the rapid expansion protocol (REP), in combination with cytokines such as IL-2 or IL-7/IL-15. Phenotypic and functional analyses confirmed the consistent quality of the final T cell products and showed no significant differences across the various combinations of feeder cells and cytokines. However, transcriptomic analysis highlighted the advantages of using IL-7/IL-15 and autologous feeder cells. Collectively, our findings offer new insights into future strategies for the manufacturing of antigen-specific T cells and underscore the importance of comprehensive, multidimensional assessment in T cell-based immunotherapies.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 3","pages":"Article 103517"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143902345","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

Acute-onset chronic inflammatory demyelinating polyneuropathy in a 23-year-old male exacerbated by an asymptomatic COVID-19 infection 一名23岁男性因无症状COVID-19感染而加重的急性发作慢性炎症性脱髓鞘多神经病变

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-07-01 Epub Date: 2025-03-31 DOI: 10.1016/j.retram.2025.103511

Sawsan Ismail , Aiman Abo Al shamat , Ali Ghalion , Hanafi Alyman Hannouf , Tamim Alsuliman , Kanaan Al-Tameemi

引用次数: 0

The vaso-occlusive pain crisis in sickle cell patients: A focus on pathogenesis 镰状细胞病患者的血管闭塞性疼痛危机：发病机制的焦点

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-07-01 Epub Date: 2025-03-29 DOI: 10.1016/j.retram.2025.103512

Fatemeh Javaherforoosh Zadeh , Azadeh Fateh , Hamed Saffari , Mohammadtaghi Khodadadi , Mohammadamin Eslami Samarian , Nasim Nikoubakht , Fatemeh Dadgar , Vahid Goodarzi

{"title":"The vaso-occlusive pain crisis in sickle cell patients: A focus on pathogenesis","authors":"Fatemeh Javaherforoosh Zadeh , Azadeh Fateh , Hamed Saffari , Mohammadtaghi Khodadadi , Mohammadamin Eslami Samarian , Nasim Nikoubakht , Fatemeh Dadgar , Vahid Goodarzi","doi":"10.1016/j.retram.2025.103512","DOIUrl":"10.1016/j.retram.2025.103512","url":null,"abstract":"<div><div>Vaso-occlusive pain crisis (VOC) is recognized as a prominent complication of sickle cell disease, accompanied by debilitating pain and serious consequences for patients, making it the primary cause of visits to hospital emergency departments. In the etiology of VOC, the intricate interaction of endothelial cells, hypoxia, inflammation, and the coagulation system is pivotal. Hemoglobin S polymerization under hypoxic conditions leads to the formation of rigid and adhesive red blood cells that interact with vascular endothelial cells and other blood cells, causing occlusion and subsequent inflammation. Hemolysis of red blood cells results in anemia and heightened inflammation, whereas oxidative stress and involvement of the coagulation system further complicate matters. In this review, we strive to examine the pathophysiology of VOC from these mentioned aspects by consolidating findings from various studies, as a comprehensive understanding of the causes of VOC is essential for the development of targeted therapeutic interventions and the prevention and management of pain, ultimately improving the quality of life for patients.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 3","pages":"Article 103512"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143815694","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

Pneumonia definition in allogeneic hematopoietic cell transplant recipients: Update and challenges in 2024. Recommendations from the EBMT Infectious Diseases Working Party and Practice Harmonization and Guidelines committee 同种异体造血细胞移植受者的肺炎定义：2024年的更新和挑战。EBMT传染病工作组和实践协调与指南委员会的建议

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-07-01 Epub Date: 2025-03-20 DOI: 10.1016/j.retram.2025.103509

Dionysios Neofytos , Paul E. Verweij , Dina Averbuch , Malgorzata Mikulska , Jan Styczynski , José Luis Piñana , Simone Cesaro , Isabel Sanchez-Ortega , Raffaella Greco , Francesco Onida , Ibrahim Yakoub-Agha , Per Ljungman , Camara Rafael de la , Anne Bergeron

{"title":"Pneumonia definition in allogeneic hematopoietic cell transplant recipients: Update and challenges in 2024. Recommendations from the EBMT Infectious Diseases Working Party and Practice Harmonization and Guidelines committee","authors":"Dionysios Neofytos , Paul E. Verweij , Dina Averbuch , Malgorzata Mikulska , Jan Styczynski , José Luis Piñana , Simone Cesaro , Isabel Sanchez-Ortega , Raffaella Greco , Francesco Onida , Ibrahim Yakoub-Agha , Per Ljungman , Camara Rafael de la , Anne Bergeron","doi":"10.1016/j.retram.2025.103509","DOIUrl":"10.1016/j.retram.2025.103509","url":null,"abstract":"<div><div>To optimize and homogenize data on infectious diseases complications, the Infectious Diseases Working Party of the European Society for Blood and Marrow Transplantation (IDWP EBMT) participated in the 2023 EBMT international workshop focusing on the standardization of the definition of specific infections, including respiratory infections [1]. This is pertinent considering that a new software for data collection, including data on post-transplant infectious disease complications, was launched in 2023 and which will remain the main tool for future epidemiological studies. In this report, we briefly discuss our proposals for pneumonia definition, predominately focusing on bacterial and fungal pneumonias. We specifically address definitions of pneumonia diagnosis, infection onset date, resolution, recurrence, and breakthrough infection, and the challenges we encountered as a group to accurately define pneumonia in hematopoietic cell transplant (HCT) recipients (Table 1). Infections with community acquired respiratory viruses and adenovirus are discussed in a separate report [1]. Definitions on CMV pneumonia have been previously described and recently updated and hence not discussed in this paper [2,3].</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 3","pages":"Article 103509"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143714918","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

Allogeneic hematopoietic stem cell transplantation in 18 patients with atypical inherited bone marrow failure syndromes: Efficacy and long-term outcomes 异基因造血干细胞移植治疗18例非典型遗传性骨髓衰竭综合征的疗效和长期预后

IF 3.2 4区医学

Current Research in Translational Medicine Pub Date : 2025-07-01 Epub Date: 2025-05-21 DOI: 10.1016/j.retram.2025.103519

Yimin Wang, Jing Wang, Qianqian Xiao, Xiaolin Yu, Xiaochen Song, Wenjun Li, Lei Deng, Yixi Hou, Fang Zhou

引用次数: 0