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European Journal of Haematology

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https://www.readbyqxmd.com/read/29319890/two-novel-unstable-hemoglobin-variants-due-to-in-frame-deletions-of-key-amino-acids-in-the-%C3%AE-globin-chain
#1
Karen Gabriela Scheps, Marcia Anahí Hasenahuer, Gustavo Parisi, Héctor M Targovnik, Eliana García, Ernesto Samuel Veber, Renée Crisp, Graciela Elena, Viviana Varela, María Silvina Fornasari
Hemoglobinopathies are the most common autosomal recessive disorders and are mostly inherited in a recessive manner. However, certain mutations can affect the globin chain stability, leading to dominant forms of thalassemia. The aim of this work was the molecular and structural characterization of two heterozygous in-frame deletions, leading to β-globin variants in pediatric patients in Argentina. The HBB gene of the probands and their parents was sequenced, and other markers of globin chain imbalance were analyzed...
January 10, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29315822/chimerism-and-gene-therapy-lessons-learned-from-non-conditioned-murine-bone-marrow-transplantation-models
#2
Katerina Jazbec, Mojca Jež, Boštjan Smrekar, Simona Miceska, Jasmina-Živa Rožman, Urban Švajger, Janja Završnik, Tadej Malovrh, Primož Rožman
OBJECTIVE: Hematopoietic stem and progenitor cells (HSPCs) can be used as a vector for gene therapies. In order to predict the number of HSPCs cells necessary to achieve the target level of chimerism in an autologous setting, syngeneic male bone marrow (BM) cells were transplanted into 35 non-conditioned female BALB/c mice. METHOD: The resulting chimerism was determined at 6-53 weeks by using qPCR, cell subpopulation sorting, and colony-forming units (CFU) analysis...
January 9, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29288559/omitting-cytogenetic-assessment-from-routine-treatment-response-monitoring-in-cml-is-safe
#3
Inge G P Geelen, Noortje Thielen, Jeroen J W M Janssen, Mels Hoogendoorn, Tanja J A Roosma, Peter J M Valk, Otto Visser, Jan J Cornelissen, Peter E Westerweel
OBJECTIVES: The monitoring of response in chronic myeloid leukemia (CML) is of great importance to identify patients failing their treatment in order to adjust TKI choice and thereby prevent progression to advanced stage disease. Cytogenetic monitoring has a lower sensitivity, is expensive, and requires invasive bone marrow sampling. Nevertheless, chronic myeloid leukemia guidelines continue to recommend performing routine cytogenetic response assessments, even when adequate molecular diagnostics are available...
December 29, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29285836/disease-and-treatment-characteristics-of-polycythaemia-vera-patients-in-belgium-results-from-a-scientific-survey
#4
Timothy Devos, Yves Beguin, Lucien Noens, Koen Van Eygen, Pierre Zachée, Philippe Mineur, Laurent Knoops, Chantal Doyen, Koen Theunissen, Fleur Samantha Benghiat, Michael Reusens, Wim Pluymers
OBJECTIVE: The current survey aimed to gather pre-defined disease parameters and treatment strategies to characterize the polycythaemia vera (PV) patient population in Belgium METHODS: Cross-sectional data from PV patients, seen at least once between May 2014 and May 2015 at 10 sites in Belgium, were collected in aggregated form and analysed descriptively and quantitatively RESULTS: Data from 343 PV patients were collected. Of these, 174 (50.7%) were male and 256 (74.6%) were ≥60 years of age...
December 29, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29285806/systematic-review-of-infectious-events-with-the-btk-inhibitor-ibrutinib-in-the-treatment-of-haematologic-malignancies
#5
REVIEW
Benjamin F Tillman, James M Pauff, Gowri Satyanarayana, Mahsa Talbott, Jeremy L Warner
OBJECTIVE: Ibrutinib is an irreversible inhibitor of Bruton tyrosine kinase (BTK) in B-lymphocytes as well as other kinases including interleukin-2-inducible T-cell kinase (ITK) in CD4+ Th2 regulatory T-cells. Increased infections have been observed in patients taking ibrutinib. The overall incidence has not been systematically evaluated. METHODS: The published literature and conference abstracts of prospective clinical trials using ibrutinib in haematologic malignancies were identified and reviewed using PubMed, Google Scholar, and HemOnc...
December 28, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29282766/erythroferrone-and-iron-status-parameters-levels-in-pediatric-patients-with-iron-deficiency-anemia
#6
Fady M El Gendy, Mahmoud A El-Hawy, Amira Mf Shehata, Hanaa E Osheba
OBJECTIVES: To investigate the link between serum erythroferrone levels and iron status parameters in pediatric patients with iron deficiency anemia. METHODS: The study consisted of 66 children (36 with iron deficiency anemia and 30 healthy age- and gender-matched controls) who were investigated for serum levels of iron, total iron binding capacity (TIBC) using automated chemistry analyzer, serum ferritin using electrochemiluminescence immunoassay and ERFE by specific enzyme-linked immunosorbent assay (ELISA) kit...
December 28, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29281132/monoclonal-gammopathies-electronic-subspecialty-consultation
#7
Nicholas Burwick, Jacob Stein, David A Garcia, Virginia C Broudy, Robert E Richard
IMPORTANCE: Electronic consultation (e-consult) is an important component of care for patients in the Veterans Health Administration who require sub-specialty consultation but not urgent face to face evaluation. Monoclonal gammopathy of undetermined significance (MGUS) is a common reason for e-consult. While often benign, MGUS requires careful evaluation and persistent surveillance over time. OBJECTIVE: To identify areas to improve MGUS care delivery by e-consult...
December 27, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29266395/arsenic-trioxide-at-conventional-dosage-does-not-aggravate-hemorrhage-in-the-first-line-treatment-of-adult-acute-promyelocytic-leukemia
#8
Wen Cui, Jin Wang, Rui-Min Nie, Ling-Ling Zhao, Meng-Qing Gao, Hong-Ming Zhu, Li Chen, Jiong Hu, Jun-Min Li, Zhi-Xiang Shen, Zhen-Yi Wang, Sai-Juan Chen, Zhu Chen, Kan-Kan Wang, Xiao-Dong Xi, Jian-Qing Mi
OBJECTIVES: The Arsenic trioxide (ATO) plus all-trans retinoic acid (ATRA) therapy has demonstrated a tremendous success in the first-line treatment of acute promyelocytic leukemia (APL). Actually, early death (ED) is currently thought as a major challenge in APL. ATO has been reported to inhibit platelet function in vitro, whether it increases the ED rate by exacerbating the hemorhagic symptoms remains to be investigated. METHODS: Effects of ATO on platelet aggragation and adhesion was evaluated in vitro and in thirty-two complete remission (CR) and four newly-diagnosed APL patients...
December 20, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29243346/hodgkin-s-variant-of-richter-s-transformation-during-ibrutinib-therapy-in-a-series-of-cll-patients-the-polish-adult-leukemia-group-report-palg
#9
LETTER
Krzysztof Jamroziak, Agnieszka Szymczyk, Marek Hus, Małgorzata Wojciechowska, Wanda Knopinska-Posłuszny, Jadwiga Hołojda, Kazimierz Hałaburda, Krzysztof Warzocha, Elżbieta Iskierka-Jażdżewska
We read with great interest the case report by Glavey et al. (1) describing a chronic lymphocytic leukemia (CLL) patient who developed the Hodgkin's variant of the Richter's transformation (Hodgkin-RT) when undergoing therapy with ibrutinib; a novel Bruton's tyrosine kinase (BTK) inhibitor. Although cases of RT are not that uncommon in CLL patients during ibrutinib therapy, reports on this rare variant are very few (1-3). This article is protected by copyright. All rights reserved.
December 15, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29243329/thrombopoietin-receptor-agonists-tpo-ras-in-patients-with-persistent-or-chronic-immune-thrombocytopenia-itp
#10
Jacopo Agnelli Giacchello, Federica Valeri, Mario Boccadoro, Alessandra Borchiellini
OBJECTIVES: to assess long-term treatment patterns and outcomes in patients with persistent or chronic immune thrombocytopenia (ITP), also considering the impact of the treatment with thrombopoietin receptor agonists (TPO-RAs) prior to splenectomy. METHODS: Medical records of all patients with persistent or chronic ITP seen at our institution between January 1985 and December 2016 were reviewed. Data on demographic and clinical characteristics were analyzed using descriptive statistics...
December 15, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29240268/assessment-of-procoagulant-potential-in-patients-with-reactive-thrombocytosis-and-its-association-with-platelet-count
#11
Amihai Rottenstreich, Ela Shai, Geffen Kleinstern, Galia Spectre, David Varon, Yosef Kalish
OBJECTIVE: We aimed to determine hemostatic changes and characterize the procoagulant potential among reactive thrombocytosis (RT) patients. METHODS: Sixty RT patients (median platelet count 718X109 /L) and 20 healthy persons were tested for complete blood count, C-reactive protein, von Willebrand factor (VWF), factor VIII and fibrinogen, and thrombin generation. Platelet studies, including light transmission aggregometry and Cone and Plate(let) Analyzer, were also conducted...
December 14, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29240266/posaconazole-oral-dose-and-plasma-levels-in-pediatric-hematology-oncology-patients
#12
Edoardo Bruno Vicenzi, Elisabetta Calore, Nunzia Decembrino, Massimo Berger, Katia Perruccio, Francesca Carraro, Sara Rossin, Maria Caterina Putti, Mariadelfina Molinaro, Gloria Tridello, Simone Cesaro
BACKGROUND: Posaconazole is a triazole with limited pharmacokinetic information in children. This study assessed the correlation between posaconazole-oral-solution daily dosage/kg/body weight and trough plasma level. METHODS: 97 hematology-oncology pediatric patients with > 1 posaconazole plasma level (PPC) assessment in the first 6 weeks after the start of posaconazole treatment were included. RESULTS: Posaconazole was used as prophylaxis in 84 of 97 (87%) patients and as therapy in 13 of 97 (13%)...
December 14, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29240263/cytochemical-flow-analysis-of-intracellular-g6pd-and-aggregate-analysis-of-mosaic-g6pd-expression
#13
Michael Kalnoky, Germana Bancone, Maria Kahn, Cindy S Chu, Nongnud Chowwiwat, Pornpimon Wilaisrisak, Sampa Pal, Nicole LaRue, Brandon Leader, Francois Nosten, Gonzalo J Domingo
BACKGROUND: Medicines that exert oxidative pressure on red blood cells (RBC) can cause severe hemolysis in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Due to X-chromosome inactivation, females heterozygous for G6PD with one allele encoding a G6PD deficient protein and the other a normal protein produce two RBC populations each expressing exclusively one allele. The G6PD mosaic is not captured with routine G6PD tests. METHODS: An open-source software tool for G6PD cytofluorometric data interpretation is described...
December 14, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29240262/flow-cytometric-analysis-of-cerebrospinal-fluid-in-adult-patients-with-acute-lymphoblastic-leukemia-during-follow-up
#14
Xiaoyuan Gong, Dong Lin, Huijun Wang, Ying Wang, Bingcheng Liu, Hui Wei, Chunlin Zhou, Kaiqi Liu, Shuning Wei, Benfa Gong, Guangji Zhang, Yuntao Liu, Xingli Zhao, Yan Li, Runxia Gu, Shaowei Qiu, Yingchang Mi, Jianxiang Wang
To explore the value of flow cytometric (FCM) analysis of cerebrospinal fluid (CSF) in the diagnosis of central nervous system involvement in adult patients with acute lymphoblastic leukemia (ALL) during follow-up METHODS: 2871 CSF samples from 357 adult patients with newly diagnosed ALL between the year of 2009 and 2015 were analysed retrospectively. These patients were divided into 3 groups according to CSF results, FCM+/conventional cytology (CC)+ group, FCM+/CC- group, and FCM-/CC- group, respectively. The overall survival (OS) of the three groups was analysed RESULTS: Fifteen (4...
December 14, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29240258/dna-and-rna-binding-by-the-wilms-tumour-gene-1-wt1-protein-kts-and-kts-isoforms-from-initial-observations-to-recent-global-genomic-analyses
#15
REVIEW
Tove Ullmark, Giorgia Montano, Urban Gullberg
The Wilms' tumour gene 1 protein (WT1) is a zinc finger transcription factor found indispensable for foetal development. WT1 has also been implicated in the development of tumours in several organ systems, including acute myeloid leukaemia (AML). Four main WT1 isoforms come from two alternative splice events. One alternative splice results in the inclusion or exclusion of three amino acids, KTS, between zinc fingers three and four in the WT1 protein. The KTS insert has been extensively investigated due to the functional implications for DNA and RNA binding...
December 14, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29240253/outcome-following-second-allogeneic-hematopoietic-cell-transplantation-a-single-center-experience
#16
Hassan A Aljasem, Hans A Messner, Jeffrey H Lipton, Dennis Dong Hwan Kim, Auro Viswabandya, Santhosh Thyagu, Uday Deotare, Fotios V Michelis
OBJECTIVE: Second allogeneic hematopoietic cell transplantation (HCT) may be indicated following relapse or graft failure following first HCT. Our retrospective single-center study sought to investigate parameters that influence post-second allogeneic HCT survival METHOD: We investigated 92 patients that underwent second allogeneic HCT between 1980 and 2016 for relapse or graft failure following first HCT. Median age at second HCT was 41 years (range 16-68), performed for relapse in 59 patients (64%) and for graft failure in 33 patients (36%) RESULTS: On univariate analysis, 3-year OS of the entire cohort was 35% (95%CI=25-45)...
December 14, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29239009/falls-in-older-adults-with-multiple-myeloma
#17
Tanya M Wildes, Mark A Fiala
To examine the prevalence of falls, factors associated with falls and the relationship between falls and survival in older adults with multiple myeloma METHODS: In an analysis of the Surveillance, Epidemiology and End Results (SEER)-Medicare Health Outcomes Survey (MHOS) linked database, we examined 405 older adults with MM and 513 matched non-cancer controls. The primary outcome was self-reported within the past 12 months. Age, race, gender, symptoms and comorbidities were self-reported in the MHOS. Survival was calculated from SEER data RESULTS: Of the patients with MM, 171 were within 1 year of diagnosis (cohort 1) and 234 were ≥1 year post-diagnosis (cohort 2)...
December 14, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29226472/cost-utility-analysis-of-idelalisib-in-combination-with-rituximab-in-relapsed-or-refractory-chronic-lymphocytic-leukaemia
#18
Luis Felipe Casado, José Ángel Hernández, Isidro Jarque, María Echave, Miguel Angel Casado, Antonio Castro
OBJECTIVE: To evaluate the incremental cost-utility ratio (ICUR) of idelalisib in combination with rituximab (IR) versus rituximab monotherapy (R) in the treatment of patients with relapsed or refractory (R/R) chronic lymphocytic leukaemia (CLL), from the Spanish National Health System (NHS) perspective. METHODS: A partitioned survival Markov model for a lifetime horizon (30 years) was developed to estimate costs (€, 2016) and quality-adjusted life years (QALY) with IR and R...
December 11, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29226428/predictive-value-of-18-f-fdg-pet-ct-scanning-in-combination-with-clinical-parameters-in-patients-with-newly-diagnosed-multiple-myeloma
#19
Honglei Tu, Yong He, Tianhe Huang, Songguk Choe, Xiaoli Lan, Xiaoyi Duan, Haseeb Sattar, Chongjiao Li, Fuling Zhou
OBJECTIVE: To evaluate the association of 18 F-2'-deoxy 2'-fluorodeoxyglucose (18 F-FDG) PET/CT with clinical parameters in predicting patients with newly diagnosed multiple myeloma (MM). METHODS: 120 MM patients undergoing 18 F-FDG PET/CT scanning were analyzed in a retrospective cohort study. RESULTS: Based on multivariate analysis, β2M, LDH, number of focal lesions (FLs) and SUVmax were significantly correlated with OS. These 4 variables were used to construct a new staging system (NSS) based on the number of risk factors...
December 11, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29226427/case-report-treatment-of-light-chain-amyloidosis-with-daratumumab-monotherapy-in-two-patients
#20
Charlotte Gran, Gösta Gahrton, Evren Alici, Hareth Nahi
Immunoglobulin light-chain amyloidosis (AL) affects multiple organs, most prominently the kidney and the heart. Renal and cardiac impairment are both associated with poor prognosis.(1) Typical treatment regimens for AL include proteasome inhibitors, alkylating agents, and steroids as well as autologous stem cell transplantation (ASCT) for younger, fit patients. Complete response after treatment is associated with a better outcome and can be measured by free light chain (FLC) reduction.(2, 3) Monoclonal antibodies such as daratumumab (Dara, human IgG1 anti-CD38) have shown promising efficacy for the treatment of relapsed and refractory multiple myeloma...
December 11, 2017: European Journal of Haematology
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