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Myelodysplastic syndrom

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https://www.readbyqxmd.com/read/28537910/techniques-for-detecting-chromosomal-aberrations-in-myelodysplastic-syndromes
#1
REVIEW
Qibin Song, Min Peng, Yuxin Chu, Shiang Huang
Myelodysplastic syndromes (MDS) are a group of heterogeneous hematologic diseases. Chromosomal aberrations are important for the initiation, development, and progression of MDS. Detection of chromosomal abnormalities in MDS is important for categorization, risk stratification, therapeutic selection, and prognosis evaluation of the disease. Recent progress of multiple techniques has brought powerful molecular cytogenetic information to reveal copy number variation, uniparental disomy, and complex chromosomal aberrations in MDS...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28535627/-significance-of-anti-epo-receptor-antibody-in-immune-related-pancytopenia
#2
T Wang, S F Hao, R Fu, H Q Wang, Z H Shao
Objective: To confirm the presence of erythropoietin receptor (EPOR) antibody in patients with immune-related pancytopenia (IRP) and to evaluate the significance of EPOR in IRP. Methods: A total of 59 newly-diagnosed IRP patients, 62 patients with IRP in remission, 14 patients with aplastic anemia (AA), 15 patients with myelodysplastic syndromes (MDS) and 33 healthy controls were enrolled in this study from January 2013 to June 2015 in Tianjin Medical University General Hospital. The anti-EPOR antibody was detected by enzyme-linked immunosorbent assay(ELISA)...
May 16, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28530236/psilac-mass-spectrometry-reveals-zfp91-as-imid-dependent-substrate-of-the-crl4-crbn-ubiquitin-ligase
#3
Jian An, Charles M Ponthier, Ragna Sack, Jan Seebacher, Michael B Stadler, Katherine A Donovan, Eric S Fischer
Thalidomide and its derivatives lenalidomide and pomalidomide (IMiDs) are effective treatments of haematologic malignancies. It was shown that IMiDs impart gain-of-function properties to the CUL4-RBX1-DDB1-CRBN (CRL4(CRBN)) ubiquitin ligase that enable binding, ubiquitination and degradation of key therapeutic targets such as IKZF1, IKZF3 and CSNK1A1. While these substrates have been implicated as efficacy targets in multiple myeloma (MM) and 5q deletion associated myelodysplastic syndrome (del(5q)-MDS), other targets likely exist...
May 22, 2017: Nature Communications
https://www.readbyqxmd.com/read/28527473/presence-of-new-mutations-in-the-tp53-gene-in-patients-with-low-risk-myelodysplastic-syndrome-two-case-reports
#4
Fernando Barroso Duarte, Romélia Pinheiro Gonçalves Lemes, Talyta Ellen de Jesus Dos Santos, Maritza Cavalcante Barbosa, João Paulo Leitão de Vasconcelos, Francisco Dário Rocha-Filho, Ilana Zalcberg, Diego Coutinho, Monalisa Feliciano Figueiredo, Luciana Barros Carlos, Paulo Roberto Leitão de Vasconcelos
BACKGROUND: Myelodysplastic syndromes are heterogeneous disorders. Patients with myelodysplastic syndrome disease often have ineffective hematopoiesis, cytopenias, blood cell dysplasia in one or more cell types, and are at high risk for developing acute myeloid leukemia. In myelodysplastic syndrome, mutations of TP53 gene are usually associated with complex karyotype and confer a worse prognosis. In the present study, two mutations in this gene are presented and discussed with the clinical evolution of the patients...
May 21, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28526957/cytomorphology-review-of-100-newly-diagnosed-lower-risk-mds-patients-in-the-european-leukemianet-mds-eumds-registry-reveals-a-high-inter-observer-concordance
#5
Louise de Swart, Alex Smith, Marius MacKenzie, Argiris Symeonidis, Judith Neukirchen, Dana Mikulenková, Teresa Vallespí, Gina Zini, Malgorzata Paszkowska-Kowalewska, Anton Kruger, Leonie Saft, Pierre Fenaux, David Bowen, Eva Hellström-Lindberg, Jaroslav Čermák, Reinhard Stauder, Aurelia Tatic, Mette Skov Holm, Luca Malcovati, Krzysztof Mądry, Jackie Droste, Nicole Blijlevens, Theo de Witte, Ulrich Germing
The European LeukemiaNet MDS (EUMDS) registry is collecting data of myelodysplastic syndrome (MDS) patients belonging to the IPSS low or intermediate-1 category, newly diagnosed by local cytologists. The diagnosis of MDS can be challenging, and some data report inter-observer variability with regard to the assessment of the MDS subtype. In order to ensure that correct diagnoses were made by the participating centres, blood and bone marrow slides of 10% of the first 1000 patients were reviewed by an 11-person panel of cytomorphologists...
May 20, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28525589/bone-marrow-involvement-in-systemic-lupus-erythematosus
#6
Emilie Chalayer, Nathalie Costedoat-Chalumeau, Odile Beyne-Rauzy, Jacques Ninet, Stephane Durupt, Jacques Tebib, Bouchra Asli, Olivier Lambotte, Martine Ffrench, Christian Vasselon, Pascal Cathébras
BACKGROUND: Besides peripheral cytopenias, bone marrow abnormalities, such as fibrosis, pure red cell aplasia, and aplastic anemia have been reported in patients with systemic lupus erythematosus (SLE), suggesting that bone marrow may be a target organ in SLE. Our objective was to describe this bone marrow involvement. METHODS: This registry is a nationwide retrospective study. Centers provided data concerning medical history, SLE manifestations, type of hematologic disorder, treatments and outcome...
May 19, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28522578/mutated-asxl1-and-number-of-somatic-mutations-as-possible-indicators-of-progression-to-chronic-myelomonocytic-leukemia-of-myelodysplastic-syndromes-with-single-or-multilineage-dysplasia
#7
Ana Valencia-Martinez, Alessandro Sanna, Erico Masala, Elisa Contini, Alice Brogi, Antonella Gozzini, Valeria Santini
No abstract text is available yet for this article.
May 18, 2017: Haematologica
https://www.readbyqxmd.com/read/28522465/cd34-megakaryocytes-and-megakaryocytic-fragments-in-myelodysplastic-syndrome
#8
Yan Chen, Hong Chang
No abstract text is available yet for this article.
May 18, 2017: Blood
https://www.readbyqxmd.com/read/28521175/prognostic-significance-of-tet2-mutations-in-myelodysplastic-syndromes-a-meta-analysis
#9
Zhen Guo, Shao-Kai Zhang, Zhe Zou, Rui-Hua Fan, Xiao-Dong Lyu
Tet methylcytosine dioxygenase 2 (TET2) mutations occur frequently in myelodysplastic syndromes (MDS), but its prognostic impact has not been fully assessed and was controversial. Therefore, we performed a meta-analysis to evaluate the prognostic significance of TET2 mutations in MDS. PubMed, EMBASE databases and Cochrane Library were searched for studies reporting TET2 mutations and overall survival in MDS. Hazard ratios (HR) with 95% confidence interval (CI) were determined using random-effect modeling. A total of 1494 patients from nine studies were subjected to meta-analysis...
March 25, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28514758/bcl2l10-positive-cells-in-bone-marrow-are-an-independent-prognostic-factor-of-azacitidine-outcome-in-myelodysplastic-syndrome-and-acute-myeloid-leukemia
#10
Valérie Vidal, Guillaume Robert, Laure Goursaud, Laetitia Durand, Clemence Ginet, Jean Michel Karsenti, Frederic Luciano, Lauris Gastaud, Georges Garnier, Thorsten Braun, Pierre Hirsch, Emmanuel Raffoux, Anne Marie Nloga, Rose Ann Padua, Hervé Dombret, Pierre Rohrlich, Lionel Ades, Christine Chomienne, Patrick Auberger, Pierre Fenaux, Thomas Cluzeau
Azacitidine (AZA), the reference treatment for most higher-risk myelodysplastic (MDS) patients can also improve overall survival (OS) in elderly acute myeloid leukemia (AML) patients ineligible for intensive chemotherapy, but reliable biological markers predicting response and OS in patients treated with AZA are lacking. In a preliminary study, we found that an increase of the percentage of BCL2L10, an anti-apoptotic member of the bcl-2 family, was correlated with AZA resistance. In this study, we assessed prospectively by flow cytometry the prognostic value of BCL2L10 positive bone marrow mononuclear cells in 70 patients (42 MDS and 28 AML), prior to AZA treatment...
April 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28509586/long-term-persistent-donor-recipient-mixed-chimerism-without-disease-recurrence-after-myeloablative-single-unit-cord-blood-transplantation-in-adult-acute-myeloid-leukemia-following-myelodysplastic-syndrome
#11
Susumu Tanoue, Takaaki Konuma, Satoshi Takahashi, Eri Watanabe, Natsuko Sato, Nobukazu Watanabe, Masamichi Isobe, Seiko Kato, Jun Ooi, Arinobu Tojo
No abstract text is available yet for this article.
May 16, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28506782/the-misleading-effect-of-serum-galactomannan-testing-in-high-risk-hematology-patients-receiving-prophylaxis-with-micafungin
#12
A Vena, E Bouza, A Álvarez-Uría, J Gayoso, P Martin-Rabadan, F Cajuste, J Guinea, J Gómez Castellá, R Alonso, P Munoz
OBJECTIVES: To investigate the performance of the routine serum galactomannan (sGM) assay in the diagnosis of invasive aspergillosis (IA) in high-risk hematology patients receiving prophylaxis with micafungin. METHODS: Retrospective study including all hematological patients who received prophylaxis with micafungin during high-risk IA episodes (neutropenic patients after chemotherapy for acute myeloid leukaemia/myelodysplastic syndrome; allogeneic HSCT during early neutropenic phase or graft-versus-host disease requiring high prednisone doses)...
May 12, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28502939/myelodysplastic-syndrome-developing-presacral-extramedullary-hematopoiesis-with-atypical-mri-findings
#13
Haruki Sawada, Takakazu Higuchi, Ryosuke Koyamada, Sadamu Okada
A 64-year-old woman was diagnosed to have refractory cytopenia with multilineage dysplasia (RCMD) including an increased number of sideroblasts in the bone marrow (BM). Computed tomography (CT) revealed a presacral mass which showed iso- or high-intensity signals according to T1-weighted and hypo-intensity signals on T2-weighted magnetic resonance imaging (MRI). CT-guided biopsy revealed the presence of hematopoietic tissue with features that correlated with the BM findings. While the formation of extramedullary hematopoiesis in the presacral area is rare, it is important to differentiate it from other parasacral tumors even though such differentiation is often difficult...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28499585/multipotent-adult-progenitor-cells-improve-the-hematopoietic-function-in-myelodysplasia
#14
Valerie D Roobrouck, Esther Wolfs, Michel Delforge, Dorien Broekaert, Soumen Chakraborty, Kathleen Sels, Thomas Vanwelden, Bryan Holvoet, Larissa Lhoest, Satish Khurana, Shubham Pandey, Chloé Hoornaert, Peter Ponsaerts, Tom Struys, Nancy Boeckx, Peter Vandenberghe, Christophe M Deroose, Catherine M Verfaillie
BACKGROUND AIMS: Myelodysplastic syndromes (MDS) are a group of clonal stem cell disorders affecting the normal hematopoietic differentiation process and leading to abnormal maturation and differentiation of all blood cell lineages. Treatment options are limited, and there is an unmet medical need for effective therapies for patients with severe cytopenias. METHODS: We demonstrate that multipotent adult progenitor cells (MAPC) improve the function of hematopoietic progenitors derived from human MDS bone marrow (BM) by significantly increasing the frequency of primitive progenitors as well as the number of myeloid colonies...
June 2017: Cytotherapy
https://www.readbyqxmd.com/read/28497239/validation-of-the-revised-international-prognostic-scoring-system-in-patients-with-myelodysplastic-syndrome-in-japan-results-from-a-prospective-multicenter-registry
#15
Hiroshi Kawabata, Kaoru Tohyama, Akira Matsuda, Kayano Araseki, Tomoko Hata, Takahiro Suzuki, Hidekazu Kayano, Kei Shimbo, Yuji Zaike, Kensuke Usuki, Shigeru Chiba, Takayuki Ishikawa, Nobuyoshi Arima, Masaharu Nogawa, Akiko Ohta, Yasushi Miyazaki, Kinuko Mitani, Keiya Ozawa, Shunya Arai, Mineo Kurokawa, Akifumi Takaori-Kondo
The Japanese National Research Group on Idiopathic Bone Marrow Failure Syndromes has been conducting prospective registration, central review, and follow-up study for patients with aplastic anemia and myelodysplastic syndrome (MDS) since 2006. Using this database, we retrospectively analyzed the prognosis of patients with MDS. As of May 2016, 351 cases were registered in this database, 186 of which were eligible for the present study. Kaplan-Meier analysis showed that overall survival (OS) curves of the five risk categories stipulated by the revised international prognostic scoring system (IPSS-R) were reasonably separated...
May 11, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28495918/bone-marrow-morphology-is-a-strong-discriminator-between-chronic-eosinophilic-leukemia-not-otherwise-specified-from-reactive-idiopathic-hypereosinophilic-syndrome
#16
Sa A Wang, Robert P Hasserjian, Wayne Tam, Albert G Tsai, Julia T Geyer, Tracy I George, Kathryn Foucar, Heesun J Rogers, Eric D Hsi, Bryan A Rea, Adam Bagg, Carlos Bueso-Ramos C, Daniel A Arber, Srdan Verstovsek, Attilio Orazi
Chronic eosinophilic leukemia, not otherwise specified can be difficult to distinguish from idiopathic hypereosinophilic syndrome according to the current World Health Organization guideline. To examine if BM morphological features might aid in the differential diagnosis of these two entities, we studied a total of 139 patients with a diagnosis of chronic eosinophilic leukemia, not otherwise specified (n=17) or idiopathic hypereosinophilic syndrome (n=122). As a group, abnormal BM morphological features, resembling myelodysplastic syndromes, myeloproliferative neoplasm or myelodysplastic/myeloproliferative neoplasm were identified in 40/139 (27%) patients, 16(94%) chronic eosinophilic leukemia and 24 (20%) hypereosinophilic syndrome...
May 11, 2017: Haematologica
https://www.readbyqxmd.com/read/28494646/a-randomized-study-comparing-stem-cell-transplantation-vs-conventional-therapy-for-low-and-intermediate-risk-myelodysplastic-syndrome-patients
#17
Zhengping Yu, Jiahua Ding, Aining Sun, Zheng Ge, Baoan Chen, Depei Wu
The treatment of myelodysplastic syndromes (MDS) involves improving patient survival and quality of life and decreasing the likelihood of progression to AML. Although the treatment outcomes of MDS remain unsatisfactory, few comparative studies have been performed comparing the outcomes of low-risk and intermediate-risk patients treated with supportive care and chemotherapeutics to those of patients treated with allo-HSCT. Therefore, we designed a clinical control study to compare the outcomes of supportive care and chemotherapeutics versus allo-HSCT treatment in MDS patients...
May 11, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/28491138/clinicohematological-and-cytogenetic-profile-of-myelodysplastic-syndromes-in-pakistan-compare-and-contrast
#18
Nida Anwar, Aisha Arshad, Muhammad Nadeem, Sana Khurram, Naveena Fatima, Sumaira Sharif, Saira Shan, Tahir Shamsi
BACKGROUND: Myelodysplastic syndromes (MDS) are clonal stem cell disorders exhibiting cytopenias, ineffective hematopoiesis and morphological dysplasia. Bone marrow cytogenetics, inspite of being incorporated as mandatory tool in diagnosis are done less frequently due to limited availability of this technique in Pakistan. The aim of the study was to study baseline clinicohematological and cytogenetic characteristics of patients presenting with de novo MDS. RESULTS: A retrospective cross sectional study was done at National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan from 2010 to 2016...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28488979/an-unlikely-rapid-transformation-of-myelodysplastic-syndrome-to-acute-leukemia-a-case-report
#19
Andrew Pourmoussa, Karen Kwan
INTRODUCTION: Myelodysplastic syndrome is characterized by stem-cell-derived clonal myelopoiesis with an alteration in proliferation and differentiation. This condition carries a potential for transformation to acute leukemia, primarily in cases that are accompanied by high-risk features at diagnosis. CASE PRESENTATION: A 68-year-old man with recently diagnosed myelodysplastic syndrome and Sweet syndrome (acute febrile neutrophilic dermatosis) presented to our Emergency Department with shortness of breath...
2017: Permanente Journal
https://www.readbyqxmd.com/read/28487541/germline-samd9-mutation-in-siblings-with-monosomy-7-and-myelodysplastic-syndrome
#20
J R Schwartz, S Wang, J Ma, T Lamprecht, M Walsh, G Song, S C Raimondi, G Wu, M F Walsh, R B McGee, C Kesserwan, K E Nichols, B E Cauff, R C Ribeiro, M Wlodarski, J M Klco
No abstract text is available yet for this article.
May 10, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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