British Journal of Haematology最新文献_第9页

Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome. 纵向 UBA1 追踪 VEXAS 综合征的方法和临床实用性。

IF 5.1 2区医学

British Journal of Haematology Pub Date : 2025-01-01 Epub Date: 2024-11-13 DOI: 10.1111/bjh.19897

Carmelo Gurnari, Elisa Galossi, Eleonora Lumia, Alfonso Piciocchi, Mariadomenica Divona, Elisa Casciani, Francesca Romano, Elisa Diral, Alessandro Tomelleri, Federico Caroni, Antonio Vitale, Gregorio Maria Bergonzi, Annalisa Condorelli, Giorgia Battipaglia, Erika Morsia, Elena Crisà, Paola Triggianese, Arianna Savi, Chiara Cardamone, Matteo Dragani, Giulia Rivoli, Federica Pilo, Davide Firinu, Sara Plebani, Francesco D'Agostino, Alessandro D'Ambrosio, Katja Sockel, Cristina Papayannidis, Silvia Salmoiraghi, Fabrizio Pane, Monica Bocchia, Luca Cantarini, Marco Frigeni, Corrado Campochiaro, Lorenzo Dagna, Raffaella Greco, Fabio Ciceri, Orietta Spinelli, Christian Thiede, Maria Teresa Voso

{"title":"Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome.","authors":"Carmelo Gurnari, Elisa Galossi, Eleonora Lumia, Alfonso Piciocchi, Mariadomenica Divona, Elisa Casciani, Francesca Romano, Elisa Diral, Alessandro Tomelleri, Federico Caroni, Antonio Vitale, Gregorio Maria Bergonzi, Annalisa Condorelli, Giorgia Battipaglia, Erika Morsia, Elena Crisà, Paola Triggianese, Arianna Savi, Chiara Cardamone, Matteo Dragani, Giulia Rivoli, Federica Pilo, Davide Firinu, Sara Plebani, Francesco D'Agostino, Alessandro D'Ambrosio, Katja Sockel, Cristina Papayannidis, Silvia Salmoiraghi, Fabrizio Pane, Monica Bocchia, Luca Cantarini, Marco Frigeni, Corrado Campochiaro, Lorenzo Dagna, Raffaella Greco, Fabio Ciceri, Orietta Spinelli, Christian Thiede, Maria Teresa Voso","doi":"10.1111/bjh.19897","DOIUrl":"10.1111/bjh.19897","url":null,"abstract":"Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is a haemato-inflammatory syndrome genetically defined by somatic mutations in the X-linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot. Clinical manifestations are heterogeneous and refractory to most haemato-rheumatological treatments. To date, no guidelines exist for the management of VEXAS, and scarce is the evidence on methodology and clinical significance of longitudinal UBA1 clonal burden evaluation upon therapy. Here, we validated a method to quantify UBA1 clonal burden and explored its applicability in patients with VEXAS. Given the different treatment interactions, droplet digital polymerase chain reaction (ddPCR) may allow for informed therapeutic decisions and implementation of personalized strategies.","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":"331-336"},"PeriodicalIF":5.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613293","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}

引用次数: 0

Sickle cell disease in India: Not just a mild condition. 印度的镰状细胞病：不仅仅是轻微疾病

IF 5.1 2区医学

British Journal of Haematology Pub Date : 2025-01-01 Epub Date: 2024-11-05 DOI: 10.1111/bjh.19877

Manpreet Kochhar, Patrick T McGann

引用次数: 0

Course of immune thrombocytopenia according to the site of platelet destruction identified by indium-111 platelet scintigraphy. 免疫性血小板减少症的病程与铟-111 血小板闪烁扫描确定的血小板破坏部位有关。

IF 5.1 2区医学

British Journal of Haematology Pub Date : 2025-01-01 Epub Date: 2024-10-15 DOI: 10.1111/bjh.19833

Pauline Durand, Valérie Pottier, Frédéric Debordeaux, Charles Mesguich, Pierre Duffau, Estibaliz Lazaro, Jean-François Viallard, Etienne Rivière

{"title":"Course of immune thrombocytopenia according to the site of platelet destruction identified by indium-111 platelet scintigraphy.","authors":"Pauline Durand, Valérie Pottier, Frédéric Debordeaux, Charles Mesguich, Pierre Duffau, Estibaliz Lazaro, Jean-François Viallard, Etienne Rivière","doi":"10.1111/bjh.19833","DOIUrl":"10.1111/bjh.19833","url":null,"abstract":"In primary immune thrombocytopenia (ITP), predictors of disease evolution and treatment response are needed. Data based on the site of platelet destruction are scarce. We performed a retrospective single-centre study of adult patients with primary ITP undergoing at least one Indium-111 platelet scintigraphy (IPS) between 2009 and 2018. Thirty-three patients had isolated hepatic platelet destruction (H-group), and 97 isolated splenic destruction (S-group). Median age at diagnosis (p < 0.001), proportion of associated cardiovascular (p < 0.001), organ-specific autoimmune diseases (p = 0.02), dependence on steroids (p = 0.003) and failure to rituximab (p = 0.01) were higher and relapse more frequent (p = 0.03) in H-group compared to non-splenectomized patients in S-group. Splenectomy was only performed in patients from S-group (as patients with hepatic sequestration are not splenectomized in our centre): 79% were in relapse-free remission at the end of a median 3.4-year post-IPS follow-up, 16% relapsed. In multivariate analyses, only a history of organ-specific autoimmune or inflammatory disease was significantly associated with hepatic sequestration (OR = 4.3, 95% CI = 1.2-15, p = 0.02). Patients with isolated hepatic sequestration were older, had more cardiovascular events and organ-specific autoimmune diseases, greater dependence on steroids, more relapses and a decreased response rate to rituximab suggesting an increased refractoriness to immunomodulatory therapies. Patients with isolated splenic sequestration responded well to splenectomy.","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":"279-289"},"PeriodicalIF":5.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11739762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142453988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

A case of acquired factor XI deficiency and severe bleeding tendency associated with Streptococcus pyogenes cellulitis. 一例与化脓性链球菌蜂窝组织炎相关的获得性 XI 因子缺乏症和严重出血倾向病例。

IF 5.1 2区医学

British Journal of Haematology Pub Date : 2025-01-01 Epub Date: 2024-11-13 DOI: 10.1111/bjh.19908

Nancy El Beayni, Riitta Lassila, Anna-Elina Lehtinen, Mirka Sivula, Timea Szanto

引用次数: 0

Red cell specifications for blood group matching in patients with haemoglobinopathies: An updated systematic review and clinical practice guideline from the International Collaboration for Transfusion Medicine Guidelines. 血红蛋白病患者血型配型的红细胞规格：来自国际输血医学指南合作组织的最新系统综述和临床实践指南。

IF 5.1 2区医学

British Journal of Haematology Pub Date : 2025-01-01 Epub Date: 2024-11-13 DOI: 10.1111/bjh.19837

Julia Wolf, Isabelle Blais-Normandin, Aarti Bathla, Homa Keshavarz, Stella T Chou, Arwa Z Al-Riyami, Cassandra D Josephson, Edwin Massey, Heather A Hume, Jacob Pendergrast, Gregory Denomme, Rada M Grubovic Rastvorceva, Sara Trompeter, Simon J Stanworth

{"title":"Red cell specifications for blood group matching in patients with haemoglobinopathies: An updated systematic review and clinical practice guideline from the International Collaboration for Transfusion Medicine Guidelines.","authors":"Julia Wolf, Isabelle Blais-Normandin, Aarti Bathla, Homa Keshavarz, Stella T Chou, Arwa Z Al-Riyami, Cassandra D Josephson, Edwin Massey, Heather A Hume, Jacob Pendergrast, Gregory Denomme, Rada M Grubovic Rastvorceva, Sara Trompeter, Simon J Stanworth","doi":"10.1111/bjh.19837","DOIUrl":"10.1111/bjh.19837","url":null,"abstract":"Red blood cell (RBC) antigen matching beyond ABO and RhD is commonly recommended for patients with sickle cell disease (SCD) and thalassaemia. We present an updated systematic literature review to inform evidence-based guidelines on RBC matching. The Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) tool was used to develop recommendations. Six new observational studies (4 prospective, 2 retrospective) were identified. The six studies reported on 583 patients in total, including cross-over designs, with sample sizes from 10 to 343. Studies were heterogeneous, utilising varying degrees of RBC matching and different definitions for 'extended' matching. All reported on alloimmunisation. One study reported on molecular matching. The reported prevalence of alloimmunisation using limited matching was 0%-50% and with extended matching was 0%-24%. Eighty-two patients were alloimmunised before study entry. The risk of bias across studies was moderate to critical. The guideline panel recommends that ABO, RhDCcEe, and K-compatible RBCs are selected for individuals with SCD and thalassaemia, even in the absence of alloantibodies, and that RBCs which are antigen-negative to already existing clinically significant antibodies are chosen. There is a need for comparative research to define the benefit, impact, cost-effectiveness, and feasibility of extended RBC matching strategies to prevent alloimmunisation.","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":"94-108"},"PeriodicalIF":5.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11739758/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Long-term remission of TP53-mutated therapy-related acute myeloid leukaemia following allogeneic stem cell transplantation in a heart transplant recipient: A case report and literature review. 心脏移植受者异体干细胞移植后tp53突变治疗相关急性髓性白血病的长期缓解：1例报告和文献综述

IF 5.1 2区医学

British Journal of Haematology Pub Date : 2024-12-30 DOI: 10.1111/bjh.19982

Annie Xiao, Rachel Davidians, Monzr M Al Malki

引用次数: 0

HOPX as a tumour-suppressive protein in T-cell acute lymphoblastic leukaemia. HOPX在t细胞急性淋巴细胞白血病中的肿瘤抑制作用。

IF 5.1 2区医学

British Journal of Haematology Pub Date : 2024-12-30 DOI: 10.1111/bjh.19965

Chien-Chin Lin, Chia-Lang Hsu, Chi-Yuan Yao, Yu-Hung Wang, Chang-Tsu Yuan, Yuan-Yeh Kuo, Jhih-Yi Lee, Pin-Tsen Shih, Chein-Jun Kao, Po-Han Chuang, Yueh-Chwen Hsu, Hsin-An Hou, Wen-Chien Chou, Hwei-Fang Tien

{"title":"HOPX as a tumour-suppressive protein in T-cell acute lymphoblastic leukaemia.","authors":"Chien-Chin Lin, Chia-Lang Hsu, Chi-Yuan Yao, Yu-Hung Wang, Chang-Tsu Yuan, Yuan-Yeh Kuo, Jhih-Yi Lee, Pin-Tsen Shih, Chein-Jun Kao, Po-Han Chuang, Yueh-Chwen Hsu, Hsin-An Hou, Wen-Chien Chou, Hwei-Fang Tien","doi":"10.1111/bjh.19965","DOIUrl":"https://doi.org/10.1111/bjh.19965","url":null,"abstract":"The homeodomain protein homeobox (HOPX), a multifaceted regulator of cellular functions and developmental processes, is predominantly expressed in stem cells across diverse tissues; it has also emerged as a tumour suppressor in various solid cancers. However, its role in haematological malignancies still remains undefined. This study aimed to elucidate its significance in T-cell acute lymphoblastic leukaemia (T-ALL). We firstly uncovered a novel link between reduced HOPX expression, its promoter hypermethylation and increased tumour burden in patients with T-ALL, suggesting its tumour-suppressive role. Next, we induced T-ALL by transducing intracellular NOTCH1 (ICN1) into mice with either conditional knock-in at the Rosa26 locus or knockout of Hopx. We found that T-ALL development was markedly accelerated and impeded in backgrounds with low and high Hopx expression respectively. Further analysis revealed Hopx's roles in modulating the Wnt-β-catenin pathway, a pivotal regulator of the downstream Myc signalling involved in T-ALL transformation and progression.","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142906465","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}

引用次数: 0

Monoclonal gammopathy of undetermined significance and the risk of thrombotic events: Results from iStopMM, a prospective population-based screening study. 未确定意义的单克隆γ病和血栓事件的风险：来自iStopMM的结果，这是一项前瞻性的基于人群的筛查研究。

IF 5.1 2区医学

British Journal of Haematology Pub Date : 2024-12-25 DOI: 10.1111/bjh.19957

Sæmundur Rögnvaldsson, Alessandro Gasparini, Sigrun Thorsteinsdottir, Ingigerdur Sverrisdottir, Elias Eythorsson, Thorir Einarsson Long, Robert Palmason, Brynjar Vidarsson, Pall Torfi Onundarson, Bjarni A Agnarsson, Margret Sigurdardottir, Isleifur Olafsson, Ingunn Thorsteinsdottir, Jon Thorir Oskarsson, Asbjorn Jonsson, Runolfur Palsson, Olafur Skuli Indriðason, Andri Olafsson, Malin Hultcrantz, Brian G M Durie, Stephen Harding, Ola Landgren, Thorvardur Jon Love, Sigurdur Yngvi Kristinsson

{"title":"Monoclonal gammopathy of undetermined significance and the risk of thrombotic events: Results from iStopMM, a prospective population-based screening study.","authors":"Sæmundur Rögnvaldsson, Alessandro Gasparini, Sigrun Thorsteinsdottir, Ingigerdur Sverrisdottir, Elias Eythorsson, Thorir Einarsson Long, Robert Palmason, Brynjar Vidarsson, Pall Torfi Onundarson, Bjarni A Agnarsson, Margret Sigurdardottir, Isleifur Olafsson, Ingunn Thorsteinsdottir, Jon Thorir Oskarsson, Asbjorn Jonsson, Runolfur Palsson, Olafur Skuli Indriðason, Andri Olafsson, Malin Hultcrantz, Brian G M Durie, Stephen Harding, Ola Landgren, Thorvardur Jon Love, Sigurdur Yngvi Kristinsson","doi":"10.1111/bjh.19957","DOIUrl":"https://doi.org/10.1111/bjh.19957","url":null,"abstract":"Monoclonal gammopathy of undetermined significance (MGUS) is the asymptomatic precursor of multiple myeloma and related diseases but has also been associated with thrombosis. Prior studies have not been based on screened cohorts leading to bias. We assessed the risk of thrombosis in a cohort of 75 422 individuals over 40 years old who were screened for MGUS in Iceland. We also evaluated the association of M protein concentration with thrombotic risk. A total of 3668 participants had MGUS. After a median follow-up of ~3.7 years, 124 venous and 252 arterial thrombotic events (10.3 and 21.0 per 1000 person years respectively) were observed in the MGUS group, compared to 1509 and 3471 in the non-MGUS group (6.0 and 13.8 per 1000 person years respectively). After adjusting for multiple confounders, MGUS was associated with an increased risk of venous thrombosis (hazard ratio [HR] = 1.43; 95% confidence interval [CI]: 1.19-1.73) but not arterial thrombosis (HR = 0.96; 95% CI: 0.87-1.13). M protein concentration was not associated with venous (p = 0.72) or arterial (p = 0.95) thrombosis. The findings show, in a screened cohort, that MGUS is associated with venous, but not arterial, thrombosis. Furthermore, they suggest that there is a subset of individuals with MGUS with subclinical monoclonal gammopathy of thrombotic significance.","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142890704","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}

引用次数: 0

CPX-351 +/- gemtuzumab ozogamicin as induction therapy for adult patients with newly diagnosed, favourable-intermediate risk, FLT3-ITD negative, AML: A pilot study. CPX-351 +/- gemtuzumab ozogamicin作为新诊断、有利-中等风险、FLT3-ITD阴性的AML成人患者的诱导治疗：一项试点研究

IF 5.1 2区医学

British Journal of Haematology Pub Date : 2024-12-25 DOI: 10.1111/bjh.19967

Chezi Ganzel, Avraham Frisch, Ofir Wolach, Yakir Moshe, Baher Krayem, Neta Dor, Etti Broide, Emmanuel Benayoun, Jacob M Rowe, Yishai Ofran

引用次数: 0

Identification of a GFI1B variant associated with abnormal platelet function and normal platelet count. 与血小板功能异常和血小板计数正常相关的GFI1B变异的鉴定

IF 5.1 2区医学

British Journal of Haematology Pub Date : 2024-12-23 DOI: 10.1111/bjh.19964

Nikesh Kawankar, Chandrakala Shanmukhaiah, Bipin Kulkarni

引用次数: 0