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https://www.readbyqxmd.com/read/29331736/dysfunctional-telomeres-and-hematological-disorders
#1
REVIEW
Elena Fiorini, Andrea Santoni, Simona Colla
Telomere biology disorders, which are characterized by telomerase activity haploinsufficiency and accelerated telomere shortening, most commonly manifest as degenerative diseases. Tissues with high rates of cell turnover, such as those in the hematopoietic system, are particularly vulnerable to defects in telomere maintenance genes that eventually culminate in bone marrow (BM) failure syndromes, in which the BM cannot produce sufficient new blood cells. Here, we review how telomere defects induce degenerative phenotypes across multiple organs, with particular focus on how they impact the hematopoietic stem and progenitor compartment and affect hematopoietic stem cell (HSC) self-renewal and differentiation...
January 4, 2018: Differentiation; Research in Biological Diversity
https://www.readbyqxmd.com/read/29330964/spectrum-of-bone-marrow-pathology-and-hematological-abnormalities-in-methylmalonic-acidemia
#2
Nasir A Bakshi, Talal Al-Anzi, Said Y Mohamed, Zuhair Rahbeeni, Moeen AlSayed, Mohammed Al-Owain, Raashda A Sulaiman
Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Their bone marrow examination revealed a wide spectrum of pathology varying from bone marrow hypoplasia, hemophagocytosis to myelodysplasia with ring sideroblasts...
January 13, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29329346/evaluation-of-bloodstream-infections-clostridium-difficile-infections-and-gut-microbiota-in-pediatric-oncology-patients
#3
Bryan T Nycz, Samuel R Dominguez, Deborah Friedman, Joanne M Hilden, Diana Ir, Charles E Robertson, Daniel N Frank
Bloodstream infections (BSI) and Clostridium difficile infections (CDI) in pediatric oncology/hematology/bone marrow transplant (BMT) populations are associated with significant morbidity and mortality. The objective of this study was to explore possible associations between altered microbiome composition and the occurrence of BSI and CDI in a cohort of pediatric oncology patients. Stool samples were collected from all patients admitted to the pediatric oncology floor from Oct.-Dec. 2012. Bacterial profiles from patient stools were determined by bacterial 16S rRNA gene profiling...
2018: PloS One
https://www.readbyqxmd.com/read/29327708/myeloproliferative-neoplasms-with-concurrent-bcr-abl1-translocation-and-jak2-v617f-mutation-a-multi-institutional-study-from-the-bone-marrow-pathology-group
#4
Craig R Soderquist, Mark D Ewalt, David R Czuchlewski, Julia T Geyer, Heesun J Rogers, Eric D Hsi, Sa A Wang, Carlos E Bueso-Ramos, Attilio Orazi, Daniel A Arber, Elizabeth O Hexner, Daria V Babushok, Adam Bagg
Myeloproliferative neoplasms arise from hematopoietic stem cells with somatically altered tyrosine kinase signaling. Classification of myeloproliferative neoplasms is based on hematologic, histopathologic and molecular characteristics including the presence of the BCR-ABL1 and JAK2 V617F. Although thought to be mutually exclusive, a number of cases with co-occurring BCR-ABL1 and JAK2 V617F have been identified. To characterize the clinicopathologic features of myeloproliferative neoplasms with concomitant BCR-ABL1 and JAK2 V617F, and define the frequency of co-occurrence, we conducted a retrospective multi-institutional study...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29323084/fibroblast-growth-factor-receptor-1-associated-myeloproliferative-neoplasm-and-t-lymphoblastic-lymphoma
#5
Gayathri Gopan, T M Anoop, N P Prakash, Rakul Nambiar, R Krishnachandran
Myeloid and lymphoid hematological malignancies with eosinophilia and abnormalities of fibroblast growth factor receptor-1 (FGFR1) result from the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. The WHO classification (2008) of hematolymphoid neoplasms recognizes a category of myeloid and lymphoid neoplasms with eosinophilia and abnormalities of FGFR1. Here, we present the case of a 30-year-old-woman who was diagnosed with T-lymphoblastic lymphoma from lymph node biopsy and myeloproliferative neoplasm with eosinophilia from bone marrow studies...
October 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29322846/pi3k-akt-mtor-pathway-in-multiple-myeloma-from-basic-biology-to-clinical-promise
#6
Vijay Ramakrishnan, Shaji Kumar
Multiple myeloma (MM), a cancer of terminally differentiated plasma cells, is the second most common hematological malignancy. The disease is characterized by the accumulation of abnormal plasma cells in the bone marrow that remains in close association with other cells in the marrow microenvironment. In addition to the genomic alterations that commonly occur in MM, the interaction with cells in the marrow microenvironment promotes signaling events within the myeloma cells that enhances survival of MM cells...
January 11, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29321824/high-frequency-of-cd34-cd38-low-immature-leukemia-cells-is-correlated-with-unfavorable-prognosis-in-acute-myeloid-leukemia
#7
Adriana Plesa, Charles Dumontet, Eve Mattei, Ines Tagoug, Sandrine Hayette, Pierre Sujobert, Isabelle Tigaud, Marie Pierre Pages, Youcef Chelghoum, Fiorenza Baracco, Helene Labussierre, Sophie Ducastelle, Etienne Paubelle, Franck Emmanuel Nicolini, Mohamed Elhamri, Lydia Campos, Claudiu Plesa, Stéphane Morisset, Gilles Salles, Yves Bertrand, Mauricette Michallet, Xavier Thomas
AIM: To evaluate the importance of the CD34+CD38- cell population when compared to the CD34+CD38+/low and CD34+CD38+/high leukemic cell sub-populations and to determine its correlations with leukemia characteristics and known prognostic factors, as well as with response to therapy and survival. METHODS: Two hundred bone marrow samples were obtained at diagnosis from 200 consecutive patients with newly diagnosed acute myeloid leukemia (AML) were studied between September 2008 and December 2010 at our Institution (Hematology Department, Lyon, France)...
December 26, 2017: World Journal of Stem Cells
https://www.readbyqxmd.com/read/29318955/case-report-of-igm-multiple-myeloma-diagnosing-a-rare-hematologic-entity
#8
Fernando Javier Bonilla-Valentín, Javier Cerra, William Cáceres-Perkins, Melissa Alsina
IgM multiple myeloma is an exceedingly rare hematologic entity comprising only less than 0.5% of multiple myeloma cases. Given the rarity of this disorder, it makes it a challenge to differentiate from other more prevalent hematologic disorders like Waldenstrom macroglobulinemia. These 2 diseases have the common finding of an IgM monoclonal gammopathy and distinguishing between these 2 diagnoses is of great importance given that therapy and prognosis differ significantly. This report illustrates the case of a 64-year-old man who presented with IgM lambda monoclonal gammopathy in whom signs, symptoms, laboratories, and imaging were initially thought to be consistent with Waldenstrom macroglobulinemia...
January 2018: Cancer Control: Journal of the Moffitt Cancer Center
https://www.readbyqxmd.com/read/29314691/mastocytosis-pathogenesis-clinical-manifestation-and-treatment
#9
Nicola Wagner, Petra Staubach
The term mastocytosis designates a group of rare disorders characterized by typical skin lesions, frequently associated episodes of anaphylaxis, and clinical symptoms related to the release of various mediators. Dermatologists/allergists are frequently the first to establish the diagnosis. The condition is based on clonal mast cell proliferation, usually in the skin or bone marrow and only rarely in the gastrointestinal tract or other tissues. In general, mastocytosis has a good prognosis in terms of life expectancy...
January 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/29309948/molecular-characterization-and-epidemiology-of-extended-spectrum-beta-lactamase-producing-klebsiella-pneumoniae-isolates-from-immunocompromised-patients-in-tunisia
#10
Farah Ben Tanfous, Wafa Achour, Anis Raddaoui, Assia Ben Hassen
OBJECTIVES: This study investigated the prevalence of extended-spectrum β-lactamase producing K. pneumoniae (ESBL-KP) strains in the National Bone Marrow Transplant Center of Tunis between 2002 and 2011, their associated antibiotics resistance patterns and their molecular features. METHODS: Antimicrobial susceptibility was determined by the disk diffusion method according to CA-SFM guidelines. All the strains were screened for beta-lactamase genes, plasmidic AmpC genes and integrons...
January 5, 2018: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/29308383/treatment-related-hematologic-changes-in-a-population-of-iranian-patients-with-chronic-hepatitis-c-infection-from-2009-to-2014
#11
Zahra Ahmadinejad, Zahra Abdiliaei, Rizan Mohamadi, Omid Rezahosseini
Background: We aimed to assess the frequency of hematologic changes, response to treatment, rate of discontinuation and dose reduction in Hepatitis C positive patients, treated with Interferon and ribavirin from Apr 2009 to Mar 2014. Methods: In this cross-sectional study, out of registered patients, 554 were assessed and 150 patients with positive HCV PCR, regular patient visits to clinic and complete records were included. HCV viral load, complete blood count and liver enzyme levels were measured before initiation of treatment and monthly...
October 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/29307717/peri-transplant-rbc-transfusion-is-associated-with-increased-risk-of-gvhd-after-allogeneic-stem-cell-transplantation
#12
Sakura Hosoba, Edmund K Waller, Neeta Shenvi, Michael Graiser, Kirk A Easley, Zaid Al-Kadhimi, Akira Andoh, Ana G Antun, Sheliagh Barclay, Cassandra D Josephson, Jean L Koff, H Jean Khoury, Amelia A Langston, James C Zimring, John D Roback, Cynthia R Giver
More than 90% of allogeneic hematopoietic stem cell transplant (allo-HSCT) patients receive red blood cell (RBC) or platelet transfusions in the peritransplant period. We tested the hypothesis that transfusions are associated with development of severe acute graft-versus-host disease (grade III/IV aGvHD) or mortality in allo-HSCT in a retrospective study of 322 consecutive patients receiving allogeneic bone marrow or G-CSF-mobilized blood stem cell grafts for hematological malignancies. Counting RBC and platelet units between day -7 pre-transplant and +27 post-transplant, but excluding transfusions administered after a diagnosis of aGvHD, yielded medians of 5 RBC and 2 platelet units transfused...
January 4, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29305999/high-fat-diet-induced-obesityexacerbateshematopoiesis-deficiency-and-cytopenia-caused-by-5-fluorouracil-via-ppar-%C3%AE
#13
Yanhong Li, Shuai Zhu, Yuanyuan Zhang, Ting Liu, Linchong Su, Qiuping Zhang, Yubin Luo
The present study aims to investigate the influence of high fat diet (HFD) on hematopoietic system recovery under stress condition caused by 5-Fluouracil (5-Fu) and evaluate the alleviating benefit of PPAR-γ inhibition on aggravation of 5-Fu-induced toxicity under HFD condition. Survival rate of HFD or normal diet (ND) mice was monitored after 5-Fu injection. HSC and the progenitor cells in bone marrow were detected at various time points after 5-Fu administration by flow cytometry. Genes expression involved in stem cell and platelet proliferation were tested by RT-PCR...
January 3, 2018: Experimental Hematology
https://www.readbyqxmd.com/read/29305552/venetoclax-for-patients-with-chronic-lymphocytic-leukemia-who-progressed-during-or-after-idelalisib-therapy
#14
Steven Coutre, Michael Choi, Richard R Furman, Herbert Eradat, Leonard Heffner, Jeffrey A Jones, Brenda Chyla, Lang Zhou, Suresh Agarwal, Tina Waskiewicz, Maria Verdugo, Rod A Humerickhouse, Jalaja Potluri, William G Wierda, Matthew S Davids
B-cell receptor pathway inhibitors (BCRi) have transformed treatment for chronic lymphocytic leukemia (CLL); however, efficacy of therapies for patients whose disease is refractory to/relapses after (R/R) BCRi is unknown. Venetoclax is a selective, orally bioavailable BCL-2 inhibitor with activity in patients with CLL, including those who are heavily pretreated or have 17p deletion. This phase 2 study prospectively evaluated venetoclax in patients with R/R CLL after ibrutinib or idelalisib; here we report on patients who received idelalisib as the last BCRi prior to enrollment...
January 5, 2018: Blood
https://www.readbyqxmd.com/read/29303771/short-and-medium-term-biological-variation-estimates-of-red-blood-cell-and-reticulocyte-parameters-in-healthy-subjects
#15
Sabrina Buoro, Anna Carobene, Michela Seghezzi, Barbara Manenti, Paola Dominoni, Aurelio Pacioni, Ferruccio Ceriotti, Cosimo Ottomano, Giuseppe Lippi
BACKGROUND: The integrated evaluation of traditional and innovative red blood cell (RBC) and reticulocyte parameters is a rapid, inexpensive and non-invasive diagnostic tools for differential diagnosis and follow-up of anemia and other pathological conditions needing bone marrow erythropoiesis assessment. Therefore, estimating the biological variation (BV) of these parameters is essential for evaluating the analytical performance of hematological analyzers, and for enabling accurate data interpretation and appropriate clinical management...
January 5, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29302561/low-backache-in-adults-as-an-initial-presentation-of-acute-lymphoblastic-leukemia
#16
Gunjan Garg, Naveen Chawla, Atul Gogia, Atul Kakar
Low backache as an initial manifestation of acute lymphoblastic leukemia (ALL) in adults has been rarely reported. In this hematological disorder, although bone marrow is replaced by malignant cells, not many cases of low backache as an initial presentation of ALL are reported. We present a series of clinical cases with low backache, which on evaluation found to have ALL.
April 2017: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/29301129/amegakaryocytic-thrombocytopenia-and-subsequent-aplastic-anemia-associated-with-apparent-epstein-barr-virus-infection
#17
Ilana Levy, Ruth Laor, Nizar Jiries, Jacob Bejar, Aaron Polliack, Tamar Tadmor
Acquired amegakaryocytic thrombocytopenia (AAT), a rare entity characterized by severe thrombocytopenia and the absence of megakaryocytes in the bone marrow, may mimic or precede the diagnosis of aplastic anemia (AA). Here, we describe a patient who presented with apparent Epstein-Barr virus (EBV)-associated immune thrombocytopenia resistant to several lines of therapies, which was in fact a form of AAT with some features of AA. He eventually responded to therapy with eltrombopag, cyclosporine A (CSA), and antithymocyte globulin (ATG) and recovered completely...
January 5, 2018: Acta Haematologica
https://www.readbyqxmd.com/read/29298288/hierarchically-related-lineage-restricted-fates-of-multipotent-haematopoietic-stem-cells
#18
Joana Carrelha, Yiran Meng, Laura M Kettyle, Tiago C Luis, Ruggiero Norfo, Verónica Alcolea, Francesca Grasso, Adriana Gambardella, Amit Grover, Kari Högstrand, Allegra M Lord, Alejandra Sanjuan-Pla, Petter S Woll, Claus Nerlov, Jacobsen Sten Eirik W
Rare multipotent hematopoietic stem cells (HSCs) in adult bone marrow (BM) with extensive self-renewal potential possess the ability to efficiently replenish all myeloid and lymphoid blood cells1, securing long-term multilineage reconstitution following physiological and clinical challenges, including chemotherapy and hematopoietic transplantations2-4. HSC transplantation remains the only curative treatment for many hematological malignancies, but inefficient blood-lineage replenishment remains a major cause of morbidity and mortality5-6...
January 3, 2018: Nature
https://www.readbyqxmd.com/read/29296947/detectable-clonal-mosaicism-in-blood-as-a-biomarker-of-cancer-risk-in-fanconi-anemia
#19
Judith Reina-Castillón, Roser Pujol, Marcos López-Sánchez, Benjamín Rodríguez-Santiago, Miriam Aza-Carmona, Juan Ramón González, José Antonio Casado, Juan Antonio Bueren, Julián Sevilla, Isabel Badel, Albert Català, Cristina Beléndez, María Ángeles Dasí, Cristina Díaz de Heredia, Jean Soulier, Detlev Schindler, Luis Alberto Pérez-Jurado, Jordi Surrallés
Detectable clonal mosaicism for large chromosomal events has been associated with aging and an increased risk of hematological and some solid cancers. We hypothesized that genetic cancer predisposition disorders, such as Fanconi anemia (FA), could manifest a high rate of chromosomal mosaic events (CMEs) in peripheral blood, which could be used as early biomarkers of cancer risk. We studied the prevalence of CMEs by single-nucleotide polymorphism (SNP) array in 130 FA patients' blood DNA and their impact on cancer risk...
January 24, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296919/hypoxia-promotes-il-32-expression-in-myeloma-cells-and-high-expression-is-associated-with-poor-survival-and-bone-loss
#20
Muhammad Zahoor, Marita Westhrin, Kristin Roseth Aass, Siv Helen Moen, Kristine Misund, Katarzyna Maria Psonka-Antonczyk, Mariaserena Giliberto, Glenn Buene, Anders Sundan, Anders Waage, Anne-Marit Sponaas, Therese Standal
Multiple myeloma (MM) is a hematologic cancer characterized by expansion of malignant plasma cells in the bone marrow. Most patients develop an osteolytic bone disease, largely caused by increased osteoclastogenesis. The myeloma bone marrow is hypoxic, and hypoxia may contribute to MM disease progression, including bone loss. Here we identified interleukin-32 (IL-32) as a novel inflammatory cytokine expressed by a subset of primary MM cells and MM cell lines. We found that high IL-32 gene expression in plasma cells correlated with inferior survival in MM and that IL-32 gene expression was higher in patients with bone disease compared with those without...
December 26, 2017: Blood Advances
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