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Hb H Disease Caused by Uniparental Disomy: First Report of the αT-Saudiα Mutation in the Chinese Population. 单亲裂殖导致的 Hb H 病:首次在中国人群中发现αT-Saudiα突变。
IF 3.2 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-09-01 DOI: 10.4084/mjhid.2024.069
Ge Wang,Hongting Xie,Jun Zhang,Peng Huang,Min Liang,Dina Zhu,Qianqian Zhang,Yuqiu Zhou,Xuan Shang
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引用次数: 0
Anorectal Pathologies in the Course of Acute Leukaemias; Predictive Parameters. 急性白血病病程中的肛门直肠病变;预测参数。
IF 3.2 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-09-01 DOI: 10.4084/mjhid.2024.071
Fatma Yilmaz,Bugra Saglam,Ufuk Gorduk,Ugur Kalan,Hacer Berna Afacan Ozturk,Ahmet Kursad Gunes,Murat Albayrak
IntroductionPatients with leukaemia are exposed to infections as long as they are neutropenic. During this period, anorectal pathologies are among the common foci of infection with high mortality. In this study, we aim to investigate the factors that may have a predictive effect on early diagnosis and rapid intervention in perianal complications occurring in neutropenic patients diagnosed with leukaemia.Materials and MethodsA total of 90 patients with acute leukaemia, including 45 patients with anorectal pathology and 45 patients without anorectal pathology, were analysed. Demographics, blood group, BMI, haemogram and biochemical parameters at the time of diagnosis, and types of perianal pathology were recorded.ResultsIn the group of patients with anorectal pathology, WBC, lymphocytes, monocytes, and LDH were significantly (p<0.05) higher, and platelets, MPV, and PCT were significantly (p<0.05) lower. The multivariate model showed significant-independent (p<0.05) efficacy of WBC and MPV values in differentiating patients with and without anorectal pathology. A significant efficacy was observed at the WBC cut-off of 17000 [area under the curve 0.656 (0.542-0.770)] and the MPV cut-off of 10 [area under the curve 0.667 (0.554-0.780)] in differentiating patients with and without anorectal pathology.DiscussionAnorectal pathologies are common foci of infection in patients with acute leukaemia. Having predictive parameters that may help for early intervention will help the clinician. This is the first study in the literature to compare a control group with a group with anorectal pathologies in leukaemia patients providing a cut-off for WBC.
导言白血病患者只要处于中性粒细胞减少状态,就会受到感染。在此期间,肛门直肠病变是常见的感染病灶之一,死亡率很高。在本研究中,我们旨在探讨对确诊为白血病的中性粒细胞增多症患者肛周并发症的早期诊断和快速干预具有预测作用的因素。结果 在有肛门直肠病变的患者组中,白细胞、淋巴细胞、单核细胞和 LDH 显著增高(P<0.05),血小板、MPV 和 PCT 显著降低(P<0.05)。多变量模型显示,白细胞和 MPV 值在区分有肛门直肠病变和无肛门直肠病变患者方面具有明显的依赖性(p<0.05)。WBC临界值为17000[曲线下面积为0.656(0.542-0.770)]和MPV临界值为10[曲线下面积为0.667(0.554-0.780)]时,在区分有肛门直肠病变和无肛门直肠病变的患者方面有明显疗效。拥有有助于早期干预的预测参数将对临床医生有所帮助。这是文献中首次对白血病患者的对照组与肛门直肠病变组进行比较,并提供了白细胞的临界值。
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引用次数: 0
Therapeutic Gene Editing for Hemoglobinopathies. 治疗血红蛋白病的基因编辑。
IF 2 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-09-01 eCollection Date: 2024-01-01 DOI: 10.4084/MJHID.2024.068
Ugo Testa, Giuseppe Leone, Maria Domenica Cappellini

In the last ten years, a consistent number of clinical studies have evaluated different gene approaches for the treatment of patients with sickle cell disease (SCD) and transfusion-dependent β-thalassemia (TDT). Initial studies of gene therapy for hemoglobinopathies involved the use of lentiviral vectors to add functional copies of the gene encoding β-globin in defective CD34 cells; more recently, gene editing techniques have been used involving either CRISPR-Cas9, transcription activation-like effector protein nuclease, zinc finger nuclease, and base editing to either induce fetal hemoglobin production at therapeutic levels or to genetically repair the underlying molecular defect causing the disease. Here, we review recent gene editing studies that have started the development of a new era in the treatment of hemoglobinopathies and, in general, monoallelic hereditary diseases.

近十年来,大量临床研究对治疗镰状细胞病(SCD)和输血依赖型β-地中海贫血(TDT)患者的不同基因方法进行了评估。最初的血红蛋白病基因治疗研究是使用慢病毒载体在有缺陷的 CD34 细胞中添加编码 β-球蛋白基因的功能拷贝;最近,基因编辑技术被用于 CRISPR-Cas9、转录激活样效应蛋白核酸酶、锌指核酸酶和碱基编辑,以诱导胎儿血红蛋白的产生达到治疗水平,或从基因上修复导致疾病的潜在分子缺陷。在此,我们回顾了最近的基因编辑研究,这些研究开启了治疗血红蛋白病以及一般单偶联遗传性疾病的新时代。
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引用次数: 0
CD146 Molecule Expression in B Cells Acute Lymphoblastic Leukemia (B-ALLs): A Flow-Cytometric Marker for an Accurate Diagnostic Workup. CD146分子在B细胞急性淋巴细胞白血病(B-ALLs)中的表达:用于准确诊断工作的流式细胞标记。
IF 3.2 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-09-01 DOI: 10.4084/mjhid.2024.064
Alessandro Laganà,Matteo Totaro,Maria Laura Bisegna,Loredana Elia,Stefania Intoppa,Marco Beldinanzi,Mabel Matarazzo,Mariangela di Trani,Alessandro Costa,Raffaele Maglione,Biancamaria Mandelli,Sabina Chiaretti,Maurizio Martelli,Maria Stefania De Propris
BackgroundB-lineage acute lymphoblastic leukemias (B-ALL) harboring the t(9;22)(q34;q11)/BCR::ABL1 rearrangement represent a category with previously dismal prognosis whose management and outcome dramatically changed thanks to the use of tyrosine kinase inhibitors (TKIs) usage and more recently full chemo-free approaches. The prompt identification of these cases represents an important clinical need.ObjectivesWe sought to identify an optimized cytofluorimetric diagnostic panel to predict the presence of Philadelphia chromosome (Ph) in B-ALL cases by the introduction of CD146 in our multiparametric flow cytometry (MFC) panels.MethodsWe prospectively evaluated a total of 245 cases of newly diagnosed B-ALLs with a CD146 positivity threshold >10% referred to the Division of Hematology of 'Sapienza' University of Rome. We compared the results of CD146 expression percentage and its mean fluorescence intensity (MFI) between Ph+ ALLs, Ph-like ALLs, and molecularly negative ALLs.ResultsSeventy-nine of the 245 B-ALL cases (32%) did not present mutations at molecular testing, with 144/245 (59%) resulting in Ph+ ALL and 19/245 (8%) Ph-like ALLs. Comparing the 3 groups, we found that Ph+ B-ALLs were characterized by higher expression percentage of myeloid markers such as CD13, CD33, and CD66c and low expression of CD38; Ph+ B-ALL showed a higher CD146 expression percentage and MFI when compared with both molecular negative B-ALL and Ph-like ALLs; neither the mean percentage of CD146 expression neither CD146 MFI were statically different between molecular negative B-ALL and Ph-like ALLs.ConclusionsOur data demonstrate the association between CD146 expression and Ph+ ALLs. CD146, along with myeloid markers, may help to identify a distinctive immunophenotypic pattern, useful for rapid identification in the diagnostic routine of this subtype of B-ALLs that benefits from a specific therapeutic approach.
背景携带t(9;22)(q34;q11)/BCR::ABL1重排的B系急性淋巴细胞白血病(B-ALL)以前预后很差,由于酪氨酸激酶抑制剂(TKIs)的使用以及最近的完全无化疗方法,其管理和预后发生了巨大变化。我们试图通过在我们的多参数流式细胞术(MFC)面板中引入 CD146 来确定一种优化的细胞荧光诊断面板,以预测 B-ALL 病例中是否存在费城染色体(Ph)。方法 我们对转诊至罗马萨皮恩扎大学血液学部的 245 例 CD146 阳性阈值大于 10% 的新诊断 B-ALL 病例进行了前瞻性评估。结果245例B-ALL病例中有79例(32%)在分子检测中未出现突变,其中144/245例(59%)为Ph+ ALL,19/245例(8%)为Ph-like ALL。比较这3组ALL,我们发现Ph+ B-ALL的特点是CD13、CD33和CD66c等髓系标志物的表达率较高,而CD38的表达率较低;与分子检测阴性的B-ALL和Ph样ALL相比,Ph+ B-ALL的CD146表达率和MFI均较高;分子检测阴性的B-ALL和Ph样ALL的CD146平均表达率和CD146 MFI均无统计学差异。我们的数据表明 CD146 表达与 Ph+ ALLs 之间存在关联。CD146 与髓细胞标志物一起,可能有助于确定一种独特的免疫表型模式,从而有助于在常规诊断中快速识别这一亚型 B-ALLs,并从特定的治疗方法中获益。
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引用次数: 0
MPN/MDS Overlap Syndrome Anticipated by a Severe Bleeding Diathesis: Hypothesis of a Preexisting Platelet Disorder. 由严重出血综合征引发的 MPN/MDS 重叠综合征:关于先天性血小板紊乱的假说。
IF 3.2 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-09-01 DOI: 10.4084/mjhid.2024.067
Paola Ranalli,Stefano Baldoni,Daniela Bruno,Mauro Di Ianni
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引用次数: 0
Feasibility and Outcome of First-Line Autotransplant-Based Treatment in Newly Diagnosed Multiple Myeloma Patients Aged > 65 Years: Monocentric Retrospective Real-World Analysis. 对年龄大于 65 岁的新诊断多发性骨髓瘤患者进行一线自体移植治疗的可行性和结果:单中心回顾性真实世界分析。
IF 3.2 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-09-01 DOI: 10.4084/mjhid.2024.066
Paola Stefanoni,Laura Paris,Nicola Pittalis,Chiara Pavoni,Giancluca Cavallaro,Alessandro Rambaldi,Monica Galli
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引用次数: 0
Effects of Daratumumab on Hematopoietic Stem Cells in Patients with Multiple Myeloma Who Are Planned to Receive Autologous Transplantation: What's the Relevance? 达拉单抗对计划接受自体移植的多发性骨髓瘤患者造血干细胞的影响:有什么意义?
IF 3.2 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-09-01 DOI: 10.4084/mjhid.2024.073
Nicola Sgherza,Pellegrino Musto
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引用次数: 0
Antibiotic Lock Therapy for Port Catheter-Related Infections of Children with Acute Leukemia. 急性白血病患儿导管端口感染的抗生素锁定疗法
IF 3.2 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-09-01 DOI: 10.4084/mjhid.2024.072
Fatma Burçin Kurtipek,Ayça Koca Yozgat,Saliha Kanık Yüksek,Dilek Kaçar,Turan Bayhan,Dilek Gürlek Gökçebay,Aslınur Özkaya Parlakay,Neşe Yaralı
IntroductionPort catheters facilitate the administration of chemotherapy, antibiotics, blood products, fluid, and parenteral nutrition to pediatric patients with hematological malignancies. However, as its use has become widespread, local and systemic, catheter-related infections have emerged as important causes of morbidity and mortality. In our study, we aimed to evaluate the success of antibiotic lock therapy in port catheter-related infections of pediatric patients followed up with acute leukemia.MethodsPort catheter cultures taken from a total of 182 pediatric patients with acute lymphoblastic/myeloblastic leukemia who were followed up at Ankara City Hospital Pediatric Hematology Clinic between August 2019 and August 2023 were evaluated retrospectively.ResultsBacterial growth was identified in 739 port catheter culture specimens of 182 patients. Closure or removal of the port was required in 91, and removal of the port catheters in 49 patients due to port catheter-related infections. Antibiotic lock therapy was started in 56 patients with bacterial growth in the port catheter. With antibiotic lock therapy, port catheter-related infections of 42 patients were eradicated, and their catheters began to be used again. As a result, the port catheter-related infections of 42 of 56 (75%) patients whose ports were closed and also received systemic antibiotic therapy were eradicated, and no infection recurrence was observed.ConclusionAdding antibiotic lock therapy to systemic antibiotics in pediatric patients may be beneficial in terms of catheter salvage.
导言导管为血液恶性肿瘤儿科患者施用化疗、抗生素、血液制品、液体和肠外营养提供了便利。然而,随着导管的广泛使用,导管相关的局部和全身感染已成为发病和死亡的重要原因。在我们的研究中,我们旨在评估抗生素锁定疗法在急性白血病儿科随访患者的端口导管相关感染中的成功率。方法回顾性评估了安卡拉市医院儿科血液学门诊在 2019 年 8 月至 2023 年 8 月期间随访的 182 名急性淋巴细胞/骨髓细胞白血病儿科患者的端口导管培养结果。结果在 182 名患者的 739 份端口导管培养标本中发现了细菌生长。由于端口导管相关感染,91 名患者需要关闭或移除端口,49 名患者需要移除端口导管。有 56 名患者的端口导管内有细菌生长,因此开始了抗生素锁定疗法。通过抗生素锁定疗法,42 名患者的端口导管相关感染得以根除,导管也可以重新使用。因此,在 56 名关闭端口并同时接受全身抗生素治疗的患者中,有 42 名(75%)患者的端口导管相关感染被根除,且未观察到感染复发。
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引用次数: 0
Blinatumomab in the Therapy of Acute B-Lymphoid Leukemia. 治疗急性 B 淋巴细胞白血病的 Blinatumomab。
IF 3.2 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-09-01 DOI: 10.4084/mjhid.2024.070
Ugo Testa,Elvira Pelosi,Germana Castelli,Patrizia Chiusolo
Blinatumomab, a CD19-CD3 bispecific T cell engager (BiTE), has two recombinant single-chain variable fragments that temporarily link CD3+ T cells and CD19+ B cells, leading to the T cell-mediated lysis of neoplastic B cells. Improved minimal residual disease (MRD)-negative response rates and long-term overall survival have been observed in B-ALL patients who received this drug. These therapeutic successes have led to FDA approval for refractory/relapsed and MRD-positive B-ALL patients. Furthermore, recent studies in newly diagnosed B-ALL patients have led in Philadelphia chromosome-positive patients to the development of chemotherapy-free regimens based on tyrosine kinase inhibitors plus Blinatumomab and in Philadelphia chromosome-negative patients to improvement in outcomes using chemotherapy regimens that have incorporated Blinatumomab in the consolidation phase of treatment.
Blinatumomab是一种CD19-CD3双特异性T细胞诱导剂(BiTE),它有两个重组单链可变片段,能暂时连接CD3+ T细胞和CD19+ B细胞,导致T细胞介导的肿瘤性B细胞裂解。接受这种药物治疗的 B-ALL 患者的最小残留病(MRD)阴性反应率和长期总生存率均有所提高。这些成功的治疗案例促使 FDA 批准该药用于治疗难治性/复发性和 MRD 阳性的 B-ALL 患者。此外,最近对新诊断的B-ALL患者进行的研究还促使费城染色体阳性患者开发出了基于酪氨酸激酶抑制剂加Blinatumomab的无化疗方案,并促使费城染色体阴性患者在巩固治疗阶段使用含有Blinatumomab的化疗方案,从而改善了治疗效果。
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引用次数: 0
Update on Cytomegalovirus Infection Management in Allogeneic Hematopoietic Stem Cell Transplant Recipients. A Consensus Document of the Spanish Group for Hematopoietic Transplantation and Cell Therapy (GETH-TC). 异基因造血干细胞移植受者巨细胞病毒感染管理的最新进展。西班牙造血干细胞移植和细胞治疗组织(GETH-TC)共识文件。
IF 3.2 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-09-01 DOI: 10.4084/mjhid.2024.065
José Luis Piñana,Estela Giménez,Lourdes Vázquez,María Ángeles Marcos,Manuel Guerreiro,Rafael Duarte,Ariadna Pérez,Carlos de Miguel,Ildefonso Espigado,Marta González-Vicent,María Suarez-Lledó,Irene García-Cadenas,Rodrigo Martino,Angel Cedillo,Monserrat Rovira,Rafael de la Cámara,David Navarro,Carlos Solano
BackgroundCytomegalovirus (CMV) infection is a common complication following allogeneic hematopoietic stem cell transplantation (allo-HSCT) and in patients receiving novel hematological therapies. Its impact on morbidity and mortality necessitates effective management strategies. Despite recent advances in diagnostics and treatment, unresolved questions persist regarding monitoring and treatment, prompting the need for updated recommendations.MethodsA consensus was reached among a panel of experts selected for their expertise in CMV research and clinical practice. Key clinical areas and questions were identified based on previous surveys and literature reviews. Recommendations were formulated through consensus and graded using established guidelines.ResultsRecommendations were provided for virological monitoring, including the timing and frequency of CMV DNAemia surveillance, especially during letermovir (LMV) prophylaxis. We evaluated the role of CMV DNA load quantification in diagnosing CMV disease, particularly pneumonia and gastrointestinal involvement, along with the utility of specific CMV immune monitoring in identifying at-risk patients. Strategies for tailoring LMV prophylaxis, managing breakthrough DNAemia, and implementing secondary prophylaxis in refractory cases were outlined. Additionally, criteria for initiating early antiviral treatment based on viral load dynamics were discussed.ConclusionThe consensus provides updated recommendations for managing CMV infection in hematological patients, focusing on unresolved issues in monitoring, prophylaxis, treatment, and resistance. These recommendations aim to guide clinical practice and improve outcomes in this high-risk population. Further research is warranted to validate these recommendations and address ongoing challenges in CMV management with emerging antiviral combinations, particularly in pediatric populations.
背景巨细胞病毒(CMV)感染是异基因造血干细胞移植(allo-HSCT)后和接受新型血液疗法患者的常见并发症。它对发病率和死亡率的影响需要有效的管理策略。尽管最近在诊断和治疗方面取得了进展,但在监测和治疗方面仍存在未解决的问题,因此需要更新建议。根据以往的调查和文献综述确定了关键的临床领域和问题。结果为病毒学监测提供了建议,包括 CMV DNA 血症监测的时间和频率,尤其是在利特莫韦 (LMV) 预防期间。我们评估了 CMV DNA 负载定量在诊断 CMV 疾病(尤其是肺炎和胃肠道受累)方面的作用,以及特异性 CMV 免疫监测在识别高危患者方面的效用。此外,还概述了定制 LMV 预防、处理突破性 DNA 血症和对难治性病例实施二次预防的策略。此外,还讨论了根据病毒载量动态启动早期抗病毒治疗的标准。结论该共识提供了管理血液病患者 CMV 感染的最新建议,重点关注监测、预防、治疗和耐药性方面尚未解决的问题。这些建议旨在指导临床实践,改善这一高风险人群的治疗效果。为验证这些建议并应对目前使用新的抗病毒组合治疗 CMV 所面临的挑战,尤其是在儿科人群中,还需要开展进一步的研究。
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引用次数: 0
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Mediterranean Journal of Hematology and Infectious Diseases
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