Results from the prospective phase 2 multicentre UK PBSC haplo trial using PTCy pre- or post-stem cells [0.03%]
前瞻性二期多中心英国外周血造血干细胞单倍型移植临床试验结果：预处理或移植后使用PTCy方案
Hugues deLavallade,William Wilson,Rachel Protheroe et al.
Hugues deLavallade et al.
This prospective phase 2 multicentre non-randomised parallel arm study of haploidentical peripheral blood stem cell (PBSC) transplantation with post-transplant cyclophosphamide (PTCy) recruited 77 patients: 50 received reduced-intensity con...
Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction [0.03%]
ITGA2B和TUBB1变异的共分离揭示了血小板功能障碍中的不同遗传贡献
Perla Bandini,Nina Borràs,Laura Martin-Fernandez et al.
Perla Bandini et al.
Single-cell transcriptional consequences of leukaemogenic SETBP1 mutations [0.03%]
SETBP1突变的白血病单细胞转录后果
Mi K Trinh,Nathaniel D Anderson,Matthew D Young et al.
Mi K Trinh et al.
Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants [0.03%]
利用配对的体细胞和胚系分析来改善DDX41变异分类的方法
Andrew George,Elisabeth Rolf,Monika Domeradzka et al.
Andrew George et al.
Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of De...
Circulating levels of insulin-like growth factor I (IGF-I) and risk of multiple myeloma: An observational and Mendelian randomisation study [0.03%]
循环胰岛素样生长因子I(IGF-I)水平与多发性骨髓瘤风险的观察研究和孟德尔随机化研究
Yolanda Benavente,Sara Hermosa,Nikos Papadimitriou et al.
Yolanda Benavente et al.
Evidence for an association between insulin-like growth factors (IGF) and multiple myeloma (MM) is inconsistent. We examined total IGF-I concentrations and risk of MM by combining baseline serological data among UK Biobank participants (n =...
Early prediction of adult lymphoma-associated haemophagocytic lymphohistiocytosis using an interpretable machine learning model [0.03%]
基于可解释机器学习模型的成人淋巴瘤相关噬血细胞综合征早期预测
Mengfan Luan,Ruinan Jia,DongMei Wang et al.
Mengfan Luan et al.
Lymphoma-associated haemophagocytic lymphohistiocytosis (LA-HLH) is associated with a high mortality rate, making early diagnosis and appropriate treatment critical for improving patient outcomes. In this study, we enrolled 126 patients dia...
Choosing between Nivo-AVD and BrECADD: Hodgkin lymphoma's new era [0.03%]
选择Nivo-AVD与BrECADD：霍奇金淋巴瘤的新时代
Edward R Scheffer Cliff,Sean McKeague,Michael J Dickinson
Edward R Scheffer Cliff
Oliver Tomkins,Jahanzaib Khwaja,Shiwen Koay et al.
Oliver Tomkins et al.
Polyradiculoneuropathy, organomegaly, endocrinopathy, M-protein and skin changes (POEMS) syndrome is a rare plasma cell dyscrasia. Questions remain regarding the use of induction therapy, given the known efficacy of melphalan autologous ste...
Significant clinical impact of immunosuppressive therapy termination after allogeneic haematopoietic stem cell transplantation [0.03%]
同种异体造血干细胞移植后免疫抑制剂停药的临床意义
Shigeo Fuji,Akihiro Ohmoto,Yuho Najima et al.
Shigeo Fuji et al.
The clinical impact of immunosuppression termination (IST) after allogeneic haematopoietic stem cell transplantation (allo-HSCT) remains to be fully elucidated. This study was aimed at assessing the impact of IST within 2 years after transp...
Neonatal genetic screening of Glucose-6-phosphate dehydrogenase deficiency through next-generation sequencing [0.03%]
新生儿葡萄糖-6-磷酸脱氢酶缺乏症基因筛查的下一代测序分析
Sabrina Bombaci,Paola Quarello,Giovanni Del Borrello et al.
Sabrina Bombaci et al.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzymopathy worldwide. Current neonatal screening, based on enzymatic assays, often fails to identify heterozygous females due to X-chromosome inactivation. Th...