A novel SF3B1 variant in a patient with MDS with ring sideroblasts [0.03%]
具有环形铁粒幼细胞的骨髓增生异常综合征(MDS)患者的新型SF3B1变异型
Yahya A Al-Ghamdi,Michael J Kluk
Yahya A Al-Ghamdi
Variants in the new E1' cryptic exon of the VHL gene associated with congenital erythrocytosis-Description of three cases [0.03%]
VHL基因的新E1'隐蔽外显子突变与先天性红细胞增多症相关—三例报道
Catarina Dantas Rodrigues,Rita Pombal,Janet Pereira et al.
Catarina Dantas Rodrigues et al.
Congenital erythrocytosis (CE) represents a rare and heterogeneous group of hereditary disorders. The molecular basis of VHL gene mutations related to CE. Recently, Lenglet et al. reported a discovery of a novel cryptic exon in the VHL gene...
Case Reports
EJHaem. 2022 Jul 1;3(3):989-991. DOI:10.1002/jha2.490 2022
Yuan Xiao Zhu,Laura A Bruins,Xianfeng Chen et al.
Yuan Xiao Zhu et al.
Identifying biomarkers associated with disease progression and drug resistance are important for personalized care. We investigated the expression of 121 curated genes, related to immunomodulatory drugs (IMiDs) and proteasome inhibitors (PI...
Dihydroorotate dehydrogenase inhibition acts synergistically with tyrosine kinase inhibitors to induce apoptosis of mantle cell lymphoma cells [0.03%]
二氢乳清酸脱氢酶抑制剂与酪氨酸激酶抑制剂协同诱导套细胞淋巴瘤细胞凋亡
May Eriksen-Gjerstad,Ida Tveit Karlsen,Zinayida Fandalyuk et al.
May Eriksen-Gjerstad et al.
Mantle cell lymphoma (MCL) is a non-Hodgkin lymphoma that remains incurable with the treatment options available today. In the present study, we have identified the dihydroorotate dehydrogenase (DHODH), an essential enzyme for the de novo b...
Evaluation of a new ELISA assay for monoclonal free-light chain detection in patients with cardiac amyloidosis [0.03%]
评价一种新的酶联免疫吸附试验在心脏淀粉样变患者中检测单克隆游离轻链的价值
Hajer Abroud,Asma Beldi-Ferchiou,Vincent Audard et al.
Hajer Abroud et al.
The causal protein of amyloid light-chain (AL) amyloidosis is a monoclonal immunoglobulin free light chain (mFLC), which must be quantified in the serum for patient diagnosis and monitoring. Several manufacturers commercialize immunoassays ...
Non-factor therapies for bleeding disorders: A primer for the general haematologist [0.03%]
出血障碍非因子治疗：普通血液科医师指南
Dawn Swan,Johnny Mahlangu,Jecko Thachil
Dawn Swan
Management of patients with severe bleeding disorders, particularly haemophilia A and B, and to a lesser extent, von Willebrand disease, has come on leaps and bounds over the past decade. Until recently, patients relied upon the administrat...
Lower access to risk stratification tests and drugs, and worse survival of chronic lymphocytic leukaemia patients treated in public as compared to private hospitals in Brazil: A retrospective analysis of the Brazilian registry of chronic lymphocytic leukaemia [0.03%]
相比巴西私立医院 患者在公立医疗体系中接受慢性淋巴细胞白血病风险分层检查和药物的途径较少 生存率更低：来自巴西慢性淋巴细胞白血病登记处的回顾性分析
Verena Pfister,Fernanda de Morais Marques,Flavia Parra et al.
Verena Pfister et al.
Chronic lymphocytic leukaemia (CLL) has a highly variable clinical course. In addition to biological factors, socioeconomic factors and health system characteristics may influence CLL outcome. Data from the Brazilian Registry of CLL were an...
Long-term observation of the frequency of secondary colorectal cancer and other malignancies in tyrosine kinase inhibitor treated chronic myeloid leukemia patients and controls [0.03%]
酪氨酸激酶抑制剂治疗的慢性粒细胞白血病患者和对照组继发结直肠癌及其他恶性肿瘤频率的长期观察研究
Nina Winkelmann,Michaela Schwarz,Bert Hildebrandt et al.
Nina Winkelmann et al.
In this analysis, we examined the risk of secondary malignancies for tyrosine kinase inhibitor (TKI) therapy in chronic myeloid leukemia (CML) patients. We also collected data on specific risk factors for colorectal cancer. Ninety-one patie...
Outcomes of poor peripheral blood stem cell mobilizers with multiple myeloma at the first mobilization: A multicenter retrospective study in Japan [0.03%]
日本多中心回顾性研究中关于初次动员不良的多发性骨髓瘤患者的外周血干细胞移植结局
Yurie Miyamoto-Nagai,Naoya Mimura,Nobuhiro Tsukada et al.
Yurie Miyamoto-Nagai et al.
Autologous stem cell transplantation (ASCT) remains an important therapeutic strategy for multiple myeloma; however, a proportion of patients fail to mobilize a sufficient number of peripheral blood stem cells (PBSCs) to proceed to ASCT. In...
Brain toxoplasmosis after HLA haploidentical transplantation for acute myeloid leukemia [0.03%]
异基因造血干细胞移植后急性髓系白血病患者移植物抗宿主病合并非典型弓形虫脑病1例报告
Takafumi Tsushima,Rikako Tabata,Kentaro Narita et al.
Takafumi Tsushima et al.