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myelodysplasia syndrome

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https://www.readbyqxmd.com/read/27870069/suspected-myelodysplastic-myeloproliferative-neoplasm-in-a-feline-leukemia-virus-negative-cat
#1
Amy L Weeden, Kyle R Taylor, Scott P Terrell, Alexander E Gallagher, Heather L Wamsley
A 10-year-old castrated Domestic Short-Haired cat was presented to a primary care veterinarian for a wellness examination and laboratory examination for monitoring of diabetes mellitus. The CBC revealed marked thrombocytosis, leukopenia and macrocytic, normochromic anemia. The cat tested negative for FeLV and feline immunodeficiency virus, but was positive for Mycoplasma haemominutum by PCR. Hematologic abnormalities were not responsive to therapy, so a repeat CBC and a bone marrow aspiration for cytology were performed...
November 21, 2016: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/27800296/klinefelter-syndrome-with-poor-risk-extragonadal-germ-cell-tumor
#2
Jeremy A Konheim, Jonathan A Israel, Scott E Delacroix
Germ cell tumors are the most common malignancy in men aged 15-35 years old, with a small percentage presenting in an extragonadal location. These tumors are seldom identified in the gastrointestinal tract. There is increased risk of extragonadal germ cell tumors (EGCT) in men with Klinefelter syndrome (KS). We report a rare case of a 37-year-old male with KS and EGCT discovered in the duodenum and pelvis. After treatment with Bleomycin-Etoposide-Cisplatin (BEP), he developed growing teratoma syndrome (GTS) and myelodysplasia...
January 2017: Urology Case Reports
https://www.readbyqxmd.com/read/27758818/immunophenotypic-analysis-of-erythroid-dysplasia-in-myelodysplastic-syndromes-a-report-from-the-imdsflow-working-group
#3
Theresia M Westers, Eline M P Cremers, Uta Oelschlaegel, Ulrika Johansson, Peter Bettelheim, Sergio Matarraz, Alberto Orfao, Bijan Moshaver, Lisa Eidenschink Brodersen, Michael R Loken, Denise A Wells, Dolores Subira', Matthew Cullen, Jeroen G Te Marvelde, Vincent H J Van der Velden, Frank W M B Preijers, Sung-Chao Chu, Jean Feuillard, Estelle Guérin, Katherina Psarra, Anna Porwit, Leonie Saft, Robin Ireland, Timothy Milne, Marie C Béné, Birgit I Witte, Matteo G Della Porta, Wolfgang Kern, Arjan A van de Loosdrecht
Current recommendations for diagnosing myelodysplastic syndromes endorse flow cytometry as an informative tool. Most flow cytometry protocols focus on the analysis of progenitor cells and the evaluation of the maturing myelomonocytic lineage. However, one of the most frequently observed features of myelodysplastic syndromes is anemia, which may be associated with dyserythropoiesis. Therefore, analysis of changes in flow cytometry features of nucleated erythroid cells may complement current flow cytometry tools...
October 6, 2016: Haematologica
https://www.readbyqxmd.com/read/27588186/myelodysplastic-syndrome-without-ring-sideroblasts-and-with-janus-kinase-2-gene-mutation-an-unusual-case-report
#4
Maria Helena Ornellas, Monique De França Silva, Cristiana Solza, Stella Beatriz Sampaio De Lucena Gonçalves, Liliane Silva De Almeida, Jackline De Paula Ayres-Silva, Taís Leite Seixas, Elenice Ferreira Bastos, Thomas Liehr, Gilda Alves
Myelodysplastic syndrome (MDS) cases comprise a heterogeneous group of hematological disorders that are characterized by impaired hematopoiesis, with cytopenias of different grades and risk of developing acute myeloid leukemia. MDS may rarely be associated with thrombocytosis. In such cases, myelodysplasia and myeloproliferative disorders may overlap, making correct diagnosis difficult. We herein describe a case of MDS with thrombocytosis, Janus kinase 2 gene mutation-positive and Perls' staining-negative, which was initially classified as essential thrombocythemia (ET)...
September 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27552991/myelodysplasia-associated-mutations-in-serine-arginine-rich-splicing-factor-srsf2-lead-to-alternative-splicing-of-cdc25c
#5
Lindsey Skrdlant, Jeremy M Stark, Ren-Jang Lin
BACKGROUND: Serine-arginine rich splicing factor 2 (SRSF2) is a protein known for its role in RNA splicing and genome stability. It has been recently discovered that SRSF2, along with other splicing regulators, is frequently mutated in patients with myelodysplastic syndrome (MDS). The most common MDS mutations in SRSF2 occur at proline 95; the mutant proteins are shown to have different RNA binding preferences, which may contribute to splicing changes detected in mutant cells. However, the influence of these SRSF2 MDS-associated mutations on specific splicing events remains poorly understood...
2016: BMC Molecular Biology
https://www.readbyqxmd.com/read/27489795/bone-marrow-immunity-and-myelodysplasia
#6
REVIEW
Claude Lambert, Yuenv Wu, Carmen Aanei
Myelodysplastic syndrome (MDS) is characterized by an ineffective hematopoiesis with production of aberrant clones and a high cell apoptosis rate in bone marrow (BM). Macrophages are in charge of phagocytosis. Innate Immune cells and specific T cells are in charge of immunosurveillance. Little is known on BM cell recruitment and activity as BM aspirate is frequently contaminated with peripheral blood. But evidences suggest an active role of immune cells in protection against MDS and secondary leukemia. BM CD8(+) CD28(-) CD57(+) T cells are directly cytotoxic and have a distinct cytokine signature in MDS, producing TNF-α, IL-6, CCL3, CCL4, IL-1RA, TNFα, FAS-L, TRAIL, and so on...
2016: Frontiers in Oncology
https://www.readbyqxmd.com/read/27427906/context-matters-distinct-disease-outcomes-as-a-result-of-crebbp-hemizygosity-in-different-mouse-bone-marrow-compartments
#7
Ting Zhou, Stephanie N Perez, Ziming Cheng, Marsha C Kinney, Madeleine E Lemieux, Linda M Scott, Vivienne I Rebel
Perturbations in CREB binding protein (CREBBP) are associated with hematopoietic malignancies, including myelodysplastic syndrome (MDS). Mice hemizygous for Crebbp develop myelodysplasia with proliferative features, reminiscent of human MDS/myeloproliferative neoplasm-unclassifiable (MDS/MPN-U), and a proportion goes on to develop acute myeloid leukemia (AML). We have also shown that the Crebbp+/- non-hematopoietic bone marrow microenvironment induces excessive myeloproliferation of wild-type cells. We now report that transplantation of unfractionated Crebbp+/- bone marrow into wild-type recipients resulted in either early-onset AML or late-onset MDS and MDS/MPN-U...
2016: PloS One
https://www.readbyqxmd.com/read/27416819/up-regulation-of-ribosomal-genes-is-associated-with-a-poor-response-to-azacitidine-in-myelodysplasia-and-related-neoplasms
#8
M Monika Belickova, Michaela Dostalova Merkerova, Hana Votavova, Jan Valka, Jitka Vesela, Barbora Pejsova, Hana Hajkova, Jiri Klema, Jaroslav Cermak, Anna Jonasova
Azacitidine (AZA) is a hypomethylating drug used to treat disorders associated with myelodysplasia and related neoplasms. Approximately 50 % of patients do not respond to AZA and have very poor outcomes. There is thus great interest in identifying predictive biomarkers for AZA responsiveness. We searched for specific genes whose expression level was associated with response status. Using microarrays, we analyzed gene expression patterns in bone marrow CD34(+) cells in serial samples from 32 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia, and acute myeloid leukemia with myelodysplasia-related changes before and during the AZA therapy...
July 14, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27387988/assessment-of-myeloid-and-monocytic-dysplasia-by-flow-cytometry-in-de-novo-aml-helps-define-an-aml-with-myelodysplasia-related-changes-category
#9
Olga K Weinberg, Robert P Hasserjian, Betty Li, Olga Pozdnyakova
AIMS: In recent years, multiparameter flow cytometry has been increasingly recognised as an important tool in diagnosis of myelodysplastic syndrome and acute myeloid leukaemia (AML). Assessment of myeloid and monocytic 'immunophenotypic' dysplasia by flow cytometry in de novo AML has not been evaluated. METHODS: 97 cases of de novo AML cases were identified and reviewed by three hematopathologists. 'Immunophenotypic' dysplasia was assessed on blasts, monocytes and granulocytes by mean fluorescence intensity...
July 7, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27356643/-clinical-analysis-of-sweet-syndrome-with-myelodysplasia-syndrome
#10
Y N Wang, J L Zhuang, W L Zhao, K Fang, Y H Liu, H Z Jin, L Li
OBJECTIVE: To study the clinical, histopathological and therapeutic features of Sweet syndrome with myelodysplastic syndrome (MDS). METHODS: The clinical data of 3 patients with Sweet syndrome and MDS diagnosed at Peking Union Medical College Hospital between October 1988 and November 2015 were reviewed. The laboratory test results, histopathological findings, and therapeutic regimens of these patients were analyzed retrospectively. RESULTS: The three cases were 29, 49 and 49 years old, respectively, including 2 females and 1 male...
June 14, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27318442/double-minute-chromosomes-in-acute-myeloid-leukemia-myelodysplastic-syndromes-and-chronic-myelomonocytic-leukemia-are-associated-with-micronuclei-myc-or-mll-amplification-and-complex-karyotype
#11
Yang O Huh, Guilin Tang, Sameer S Talwalkar, Joseph D Khoury, Maro Ohanian, Carlos E Bueso-Ramos, Lynne V Abruzzo
Double minute chromosomes (dmin) are small, paired chromatin bodies that lack a centromere and represent a form of extrachromosomal gene amplification. Dmin are rare in myeloid neoplasms and are generally associated with a poor prognosis. Most studies of dmin in myeloid neoplasms are case reports or small series. In the current study, we present the clinicopathologic and cytogenetic features of 22 patients with myeloid neoplasms harboring dmin. These neoplasms included acute myeloid leukemia (AML) (n = 18), myelodysplastic syndrome (MDS) (n = 3), and chronic myelomonocytic leukemia (CMML) (n = 1)...
July 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27311589/withaferin-a-suppresses-the-growth-of-myelodysplasia-and-leukemia-cell-lines-by-inhibiting-cell-cycle-progression
#12
Shuichiro Okamoto, Takayuki Tsujioka, Shin-Ichiro Suemori, Jun-Ichiro Kida, Toshinori Kondo, Yumi Tohyama, Kaoru Tohyama
Treatment outcomes for acute myeloid leukemia and myelodysplastic syndromes (MDS) remain unsatisfactory despite progress in various types of chemotherapy and hematopoietic stem cell transplantation. Therefore, there is a need for the development of new treatment options. We investigated the growth-suppressive effects of withaferin A (WA), a natural plant steroidal lactone, on myelodysplasia and leukemia cell lines. WA exhibited growth-suppressive effects on the cell lines, MDS-L, HL-60, THP-1, Jurkat and Ramos, and induction of cell cycle arrest at G2/M phase at relatively low doses...
September 2016: Cancer Science
https://www.readbyqxmd.com/read/27259979/gata2-regulates-dendritic-cell-differentiation
#13
Koichi Onodera, Tohru Fujiwara, Yasushi Onishi, Ari Itoh-Nakadai, Yoko Okitsu, Noriko Fukuhara, Kenichi Ishizawa, Ritsuko Shimizu, Masayuki Yamamoto, Hideo Harigae
Dendritic cells (DCs) are critical immune response regulators; however, the mechanism of DC differentiation is not fully understood. Heterozygous germ line GATA2 mutations induce GATA2-deficiency syndrome, characterized by monocytopenia, a predisposition to myelodysplasia/acute myeloid leukemia, and a profoundly reduced DC population, which is associated with increased susceptibility to viral infections, impaired phagocytosis, and decreased cytokine production. To define the role of GATA2 in DC differentiation and function, we studied Gata2 conditional knockout and haploinsufficient mice...
July 28, 2016: Blood
https://www.readbyqxmd.com/read/27195147/transfusion-thresholds-quality-of-life-and-current-approaches-in-myelodysplastic-syndromes
#14
REVIEW
Ioannis Koutsavlis
Hemoglobin thresholds and triggers for blood transfusions have changed over the years moving from a higher to a lower level. This review article summarizes the current evidence of transfusion thresholds in the hospitalized as well as in the outpatient setting and particularly in myelodysplasia. Fatigue is the main reported symptom in this group of patients and current clinical trials are looking for a more liberal approach of red cell transfusion and the effect on quality of life as opposed to the restrictive strategy used in the critical care setting...
2016: Anemia
https://www.readbyqxmd.com/read/27182967/samd9-mutations-cause-a-novel-multisystem-disorder-mirage-syndrome-and-are-associated-with-loss-of-chromosome-7
#15
Satoshi Narumi, Naoko Amano, Tomohiro Ishii, Noriyuki Katsumata, Koji Muroya, Masanori Adachi, Katsuaki Toyoshima, Yukichi Tanaka, Ryuji Fukuzawa, Kenichi Miyako, Saori Kinjo, Shouichi Ohga, Kenji Ihara, Hirosuke Inoue, Tadamune Kinjo, Toshiro Hara, Miyuki Kohno, Shiro Yamada, Hironaka Urano, Yosuke Kitagawa, Koji Tsugawa, Asumi Higa, Masakazu Miyawaki, Takahiro Okutani, Zenro Kizaki, Hiroyuki Hamada, Minako Kihara, Kentaro Shiga, Tetsuya Yamaguchi, Manabu Kenmochi, Hiroyuki Kitajima, Maki Fukami, Atsushi Shimizu, Jun Kudoh, Shinsuke Shibata, Hideyuki Okano, Noriko Miyake, Naomichi Matsumoto, Tomonobu Hasegawa
Adrenal hypoplasia is a rare, life-threatening congenital disorder. Here we define a new form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) syndrome. By exome sequencing and follow-up studies, we identified 11 patients with adrenal hypoplasia and common extra-adrenal features harboring mutations in SAMD9. Expression of the wild-type SAMD9 protein, a facilitator of endosome fusion, caused mild growth restriction in cultured cells, whereas expression of mutants caused profound growth inhibition...
July 2016: Nature Genetics
https://www.readbyqxmd.com/read/27151974/spliceosomal-gene-mutations-in-myelodysplasia-molecular-links-to-clonal-abnormalities-of-hematopoiesis
#16
REVIEW
Daichi Inoue, Robert K Bradley, Omar Abdel-Wahab
Genomic analyses of the myeloid malignancies and clonal disorders of hematopoiesis that may give rise to these disorders have identified that mutations in genes encoding core spliceosomal proteins and accessory regulatory splicing factors are among the most common targets of somatic mutations. These spliceosomal mutations often occur in a mutually exclusive manner with one another and, in aggregate, account for the most frequent class of mutations in patients with myelodysplastic syndromes (MDSs) in particular...
May 1, 2016: Genes & Development
https://www.readbyqxmd.com/read/27124938/patients-with-a-history-of-chemotherapy-and-isolated-del-20q-with-minimal-myelodysplasia-have-an-indolent-course
#17
Elizabeth L Courville, Charanjeet Singh, Sophia Yohe, Michael A Linden, Kaveh Naemi, Michael Berger, Celalettin Ustun, Robert W McKenna, Michelle Dolan
OBJECTIVES: Isolated deletion (20q) is relatively common in myeloid neoplasms and has been rarely reported in cases of therapy-related myelodysplastic syndrome (MDS). Our aim was to characterize cases of isolated del(20q) in bone marrow biopsy specimens from patients with a history of chemotherapy with morphologic findings insufficient for a diagnosis of MDS. METHODS: In this retrospective study from one institution, we identified 22 patients with isolated del(20q) and no or minimal dysplasia and evaluated clinical and pathologic characteristics...
April 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27118022/antineutrophilic-cytoplasmic-antibody-associated-vasculitis-and-malignant-hemopathies-a-retrospective-study-of-16-cases
#18
Carole Philipponnet, Cyril Garrouste, Guillaume Le Guenno, Claire Cartery, Loïc Guillevin, Jean-Jacques Boffa, Anne-Elisabeth Heng
OBJECTIVES: ANCA-associated vasculitis are severe autoimmune pathologies that are characterized by inflammation and necrosis of the small vessels. The physiopathological mechanisms are complex and have yet to be totally elucidated. Several environmental factors have been described as being associated: medications, infectious agents… and rarely, neoplasms. METHODS: We performed a retrospective multicenter study over a period of 12 years with a view to describing the association of ANCA-associated vasculitis and malignant hemopathies, excluding hemopathies secondary to vasculitis treatment...
April 22, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/27108925/ankrd26-normocytic-thrombocytopenia-a-family-report
#19
Anne Vincenot, Marie-Françoise Hurtaud-Roux, Olivier René, Sylvie Binard, Odile Fenneteau, Nicole Schlegel
We report the identification of a new case of familial non syndromic severe thrombocytopenia. Bleeding was mild and no extra-haematological symptoms were found. Platelet morphology was normal as well as the quantitative expression of platelet membrane glycoproteins. Platelet functions could not be studied due to the intensity of the thrombocytopenia. Molecular analysis identified a mutation located in the promoter of the ankyrin repeat domain 26 (ANKRD26) gene, c.-127A>T, recently reported to be responsible of normocytic thrombocytopenia, but also of a possible increased risk of leukemia/myelodysplasia...
June 1, 2016: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/27099151/single-vs-double-unit-cord-blood-transplantation-for-children-and-young-adults-with-acute-leukemia-or-myelodysplastic-syndrome
#20
Gérard Michel, Claire Galambrun, Anne Sirvent, Cecile Pochon, Benedicte Bruno, Charlotte Jubert, Anderson Loundou, Ibrahim Yakoub-Agha, Noel Milpied, Patrick Lutz, Aude Marie-Cardine, Virginie Gandemer, Didier Blaise, Mauricette Michallet, Fanny Rialland, Cecile Renard, Claire Oudin, Sophie Esmiol, Mylene Seux, Karine Baumstarck, Mohamad Mohty, Vanderson Rocha, Jean-Hugues Dalle
Transplantation of 2 unrelated cord blood (UCB) units instead of 1 has been proposed to increase the cell dose. We report a prospective randomized study, designed to compare single- vs double-UCB transplantation in children and young adults with acute leukemia in remission or myelodysplasia. Eligible patients had at least two 4-6 HLA-identical UCBs with >3 × 10(7) nucleated cells/kg for the first and >1.5 × 10(7) for the second. The primary end point was the 2-year cumulative incidence of transplantation strategy failure, a composite end point including transplant-related mortality (TRM), engraftment failure, and autologous recovery...
June 30, 2016: Blood
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