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Myelodysplasia

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https://www.readbyqxmd.com/read/28408108/busulfan-drug-monitoring-is-needed-in-patients-undergoing-allogeneic-stem-cell-transplantation
#1
Bushra Salman, Mohammed Al-Zaabi, Mohammed Al-Huneini, David Dennison, Abdulhakeem Al-Rawas, Salam Al-Kindi, Khalil Al-Farsi, Melanie Tauro, Murtadha Al-Khabori
Busulfan (Bu)-based preparative regimens in hematopoietic stem cell transplantation are commonly used. Previous studies have shown that Bu at a fixed dose of 3.2mg/kg/day (FBD) given intravenously decreases variability in drug pharmacokinetics and this decreases the dependency on therapeutic drug monitoring (TDM) of Bu. We compared the Bu dose given using TDM with the FBD of 3.2mg/kg/day. Seventy-three patients with acute leukemia, myelodysplasia, chronic myeloid leukemia, thalassemia major, and sickle cell disease were included...
April 6, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28372848/splicing-factor-mutations-in-myelodysplasias-insights-from-spliceosome-structures
#2
REVIEW
Jermaine L Jenkins, Clara L Kielkopf
Somatic mutations of pre-mRNA splicing factors recur among patients with myelodysplastic syndrome (MDS) and related malignancies. Although these MDS-relevant mutations alter the splicing of a subset of transcripts, the mechanisms by which these single amino acid substitutions change gene expression remain controversial. New structures of spliceosome intermediates and associated protein complexes shed light on the molecular interactions mediated by 'hotspots' of the SF3B1 and U2AF1 pre-mRNA splicing factors...
March 31, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28369036/chromatin-remodeling-factor-smarcd2-regulates-transcriptional-networks-controlling-differentiation-of-neutrophil-granulocytes
#3
Maximilian Witzel, Daniel Petersheim, Yanxin Fan, Ehsan Bahrami, Tomas Racek, Meino Rohlfs, Jacek Puchałka, Christian Mertes, Julien Gagneur, Christoph Ziegenhain, Wolfgang Enard, Asbjørg Stray-Pedersen, Peter D Arkwright, Miguel R Abboud, Vahid Pazhakh, Graham J Lieschke, Peter M Krawitz, Maik Dahlhoff, Marlon R Schneider, Eckhard Wolf, Hans-Peter Horny, Heinrich Schmidt, Alejandro A Schäffer, Christoph Klein
We identify SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2), also known as BAF60b (BRG1/Brahma-associated factor 60b), as a critical regulator of myeloid differentiation in humans, mice, and zebrafish. Studying patients from three unrelated pedigrees characterized by neutropenia, specific granule deficiency, myelodysplasia with excess of blast cells, and various developmental aberrations, we identified three homozygous loss-of-function mutations in SMARCD2...
April 3, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28367431/a-3-year-old-girl-with-recurrent-infections-and-autoimmunity-due-to-a-stat1-gain-of-function-mutation-the-expanding-clinical-presentation-of-primary-immunodeficiencies
#4
Juan Carlos Aldave Becerra, Enrique Cachay Rojas
We report a 3-year-old Peruvian girl, born to non-consanguineous parents. At the age of 8 months, she had a severe pneumonia complicated with empyema that required thoracic drainage and mechanical ventilation. Although no microorganisms were isolated, the patient recovered with broad-spectrum antibiotics. Since that date, she has presented multiple episodes of pneumonia and recurrent episodes of bronchospasm. At 1 year 5 months of age, the patient began with recurrent episodes of oropharyngeal, vaginal, and skin candidiasis, which improved transiently after using oral azole drugs...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28366522/diagnostic-yield-of-lumbosacral-magnetic-resonance-imaging-requested-by-paediatric-urology-consultations
#5
M Fernández-Ibieta, J Rojas Ticona, V Villamil, M J Guirao Piñera, A López García, G Zambudio Carmona
OBJECTIVES: In the historical series, the diagnostic yield of lumbosacral magnetic resonance imaging to rule out occult spinal dysraphism (or occult myelodysplasia), requested by paediatric urology, ranged from 2% to 15%. The aim of this study was to define our cost-effectiveness in children with urinary symptoms and to define endpoints that increase the possibility of finding occult spinal dysraphism. PATIENTS AND METHODS: A screening was conducted on patients with urinary dysfunction for whom an magnetic resonance imaging was requested by the paediatric urology clinic, for persistent symptoms after treatment, voiding dysfunction or other clinical or urodynamic findings...
March 30, 2017: Actas Urologicas Españolas
https://www.readbyqxmd.com/read/28357685/familial-acute-myeloid-leukemia-and-myelodysplasia-in-hungary
#6
Attila Péter Király, Krisztián Kállay, Ambrus Gángó, Ádám Kellner, Miklós Egyed, Anita Szőke, Richárd Kiss, István Vályi-Nagy, Judit Csomor, András Matolcsy, Csaba Bödör
Although genetic predisposition to haematological malignancies has long been known, genetic testing is not yet the part of the routine diagnostics. In the last ten years, next generation sequencing based studies identified novel germline mutations in the background of familial aggregation of certain haematologic disorders including myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML). This is supported by the fact that the myeloid neoplasms with genetic predisposition represent a new category in the revised 2016 World Health Organization classification...
March 29, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28348147/how-do-mrna-splicing-alterations-drive-myelodysplasia
#7
Poorval Joshi, Stephanie Halene, Omar Abdel-Wahab
Mutations in RNA splicing factors are the single most common class of genetic alterations in myelodysplastic syndrome (MDS) patients. Although much has been learned about how these mutations affect splicing at a global- and transcript-specific level, critical questions about the role of these mutations in MDS development and maintenance remain. Here we present the questions to be addressed in order to understand the unique enrichment of these mutations in MDS.
March 27, 2017: Blood
https://www.readbyqxmd.com/read/28323261/corrigendum-ubiquitination-of-hnrnpa1-by-traf6-links-chronic-innate-immune-signaling-with-myelodysplasia
#8
Jing Fang, Lyndsey C Bolanos, Kwangmin Choi, Xiaona Liu, Susanne Christie, Shailaja Akunuru, Rupali Kumar, Dehua Wang, Xiaoting Chen, Kenneth D Greis, Peter Stoilov, Marie-Dominique Filippi, Jaroslaw P Maciejewski, Guillermo Garcia-Manero, Matthew T Weirauch, Nathan Salamonis, Hartmut Geiger, Yi Zheng, Daniel T Starczynowski
No abstract text is available yet for this article.
March 22, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28321349/uncovering-clinical-features-of-de-novo-philadelphia-positive-myelodysplasia
#9
Aristides Armas, Chen Chen, Martha Mims, Gustavo Rivero
Myelodysplastic syndrome (MDS) is cytogenetically heterogeneous and retains variable risk for acute myeloid leukemia transformation. Though not yet fully understood, there is an association between genetic abnormalities and defects in gene expression. The functional role for infrequent cytogenetic alteration remains unclear. An uncommon chromosomic abnormality is the presence of the Philadelphia (Ph) chromosome. Here, we report a patient with Ph+ MDS treated with low dose Dasatinib who achieved hematologic response for 7 months...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28298242/migratory-large-vessel-vasculitis-preceding-acute-myeloid-leukemia-a-case-report
#10
Dinusha Chandratilleke, Anthea Anantharajah, Mauro Vicaretti, Warwick Benson, Lucinda J Berglund
BACKGROUND: Large vessel vasculitis is a rare disorder usually occurring in the context of the autoimmune conditions of giant cell arteritis and Takayasu's arteritis. Case reports have described large vessel vasculitis occurring in individuals with myelodysplastic syndrome, preceding transformation to acute myeloid leukemia. CASE PRESENTATION: A 56-year-old Afghanistan-born woman presented with fever, a tender left carotid artery, and raised inflammatory markers...
March 16, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28284293/persistent-inflammation-immunosuppression-and-catabolism-syndrome
#11
REVIEW
Juan C Mira, Scott C Brakenridge, Lyle L Moldawer, Frederick A Moore
Following advances in critical care, in-hospital multiple organ failure-related mortality is declining. Consequently, incidence of chronic critical illness is increasing. These patients linger in the intensive care unit, have high resource utilization, and poor long-term outcomes. Within this population, the authors propose that a substantial subset of patients have a new phenotype: persistent inflammation, immunosuppression, and catabolism syndrome. There is evidence that myelodysplasia with expansion of myeloid-derived suppressor cells, innate and adaptive immune suppression, and protein catabolism with malnutrition are major contributors...
April 2017: Critical Care Clinics
https://www.readbyqxmd.com/read/28277297/prevention-of-ventriculoperitoneal-shunt-complications-after-intraperitoneal-urological-surgeries
#12
Takashi Ikeda, Sayaka Akiyama, Woo Jin Kim, Susumu Ito, Yuichiro Yamazaki
PURPOSE: To evaluate perioperative management for the prevention of postoperative shunt infection and malfunction after intraperitoneal urological surgery in patients with myelodysplasia and a ventriculoperitoneal shunt. METHODS: From 2005 to 2015, 20 consecutive patients with myelodysplasia and a ventriculoperitoneal shunt who underwent intraperitoneal urological surgeries were managed with the same perioperative regimen. Intraperitoneal surgeries involved opening gastrointestinal tracts, including bladder augmentation by enterocystoplasty, creating continent catheterizable channels and Malone antegrade continent enema...
October 14, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28275389/cd19-cd56-myeloma-arising-in-a-patient-who-failed-two-courses-of-immunosupressive-therapy-for-aplastic-anaemia
#13
Nigel P Murray, M Amparo Ruiz, G Maximiliano Miranda
Patients diagnosed with severe aplastic anaemia and without a compatible bone marrow transplant donor are treated with immunosuppressive therapy. These patients are found with time to develop a clonal disease such as myelodysplasia or paroxysmal nocturnal haemoglobinuria. However, the development of plasma cell dyscrasias is rare. We report the case here of a patient treated with immunosuppressive therapy who went on to develop myeloma 11 months after being diagnosed with severe aplastic anaemia. We include here a review of the literature...
2017: Ecancermedicalscience
https://www.readbyqxmd.com/read/28271814/gata2-null-mutation-associated-with-incomplete-penetrance-in-a-family-with-emberger-syndrome
#14
Aniel Jessica Leticia Brambila-Tapia, José Elías García-Ortiz, Pascal Brouillard, Ha-Long Nguyen, Miikka Vikkula, Blanca Estela Ríos-González, Roberto de Jesús Sandoval-Muñiz, Ana Karen Sandoval-Talamantes, Lucina Bobadilla-Morales, Jorge Román Corona-Rivera, Lisette Arnaud-Lopez
INTRODUCTION: GATA2 mutations are associated with several conditions, including Emberger syndrome which is the association of primary lymphedema with hematological anomalies and an increased risk for myelodysplasia and leukemia. OBJECTIVE: To describe a family with Emberger syndrome with incomplete penetrance. METHODS: A DNA sequencing of GATA2 gene was performed in the parents and offspring (five individuals in total). RESULTS: The family consisted of 5 individuals with a GATA2 null mutation (c...
March 8, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28270348/myelodysplasia-and-acute-myeloid-leukemia-fifteen-years-after-high-dose-cyclophosphamide-in-a-child-with-severe-aplastic-anemia
#15
José Carlos Jaime-Pérez, Liliana Nataly Guerra-Leal, Olga Graciela Cantú-Rodríguez, David Gómez-Almaguer
No abstract text is available yet for this article.
January 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28257592/visualization-of-cell-composition-and-maturation-in-the-bone-marrow-using-10-color-flow-cytometry-and-radar-plots
#16
Katayoon Jafari, Anne Tierens, Amr Rajab, Rumina Musani, André Schuh, Anna Porwit
BACKGROUND: The enormous potential of complex data files generated by 10-color flow cytometry (FC) is hindered by the requirement for exhaustive manual gating and the complexity of multidimensional data visualization. We propose a model using radar plots (RPs), to improve FC data visualization by capturing multidimensionality and integration of FC findings. METHOD: We analysed 12 normal/reactive bone marrow (N/R BM) samples and 12 BM samples from patients with myelodysplasia (MDS) with 10-color FC...
March 3, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28255022/molecular-features-of-early-onset-adult-myelodysplastic-syndrome
#17
Cassandra M Hirsch, Bartlomiej P Przychodzen, Tomas Radivoyevitch, Bhumika Patel, Swapna Thota, Michael J Clemente, Yasunobu Nagata, Thomas LaFramboise, Hetty Carraway, Aziz Nazha, Mikkael A Sekeres, Hideki Makishima, Jaroslaw P Maciejewski
Myelodysplastic syndromes are typically diseases of older adults. Early onset patients may have distinct molecular and clinical features or reflect a demographic continuum. The identification of differences between early onset patients and those diagnosed at a traditional age has the potential to advance understanding of the pathogenesis of myelodysplasia and may lead to formation of distinct morphologic subcategories. We studied a cohort of 634 patients with various subcategories of myelodysplastic syndrome and secondary acute myeloid leukemia, stratifying based on age at presentation and clinical parameters...
March 2, 2017: Haematologica
https://www.readbyqxmd.com/read/28223278/impact-of-genetic-alterations-in-stem-cell-transplantation-for-myelodysplasia-and-secondary-acute-myeloid-leukemia
#18
Tetsuichi Yoshizato, Yasuhito Nannya, Yoshiko Atsuta, Yusuke Shiozawa, Yuka Iijima-Yamashita, Kenichi Yoshida, Yuichi Shiraishi, Hiromichi Suzuki, Yasunobu Nagata, Yusuke Sato, Nobuyuki Kakiuchi, Keitaro Matsuo, Makoto Onizuka, Keisuke Kataoka, Kenichi Chiba, Hiroko Tanaka, Hiroo Ueno, Masahiro M Nakagawa, Bartlomiej Przychodzen, Claudia Haferlach, Wolfgang Kern, Kosuke Aoki, Hidehiro Itonaga, Yoshinobu Kanda, Mikkael A Sekeres, Jaroslaw P Maciejewski, Torsten Haferlach, Yasushi Miyazaki, Keizo Horibe, Masashi Sanada, Satoru Miyano, Hideki Makishima, Seishi Ogawa
Genetic alterations, including mutations and copy number alterations, are central to the pathogenesis of myelodysplastic syndromes and related diseases (myelodysplasia), but their roles in allogeneic stem-cell transplantation have not fully been studied in a large cohort of patients. We enrolled 797 patients who had been diagnosed with myelodysplasia at initial presentation and received transplantation via the Japan Marrow Donor Program. Targeted-capture sequencing was performed to identify mutations in 69 genes, together with copy number alterations, whose effects on transplantation outcomes were investigated...
February 21, 2017: Blood
https://www.readbyqxmd.com/read/28207808/autologous-hematopoietic-stem-cell-transplantation-in-lymphoma-patients-is-associated-with-a-decrease-in-the-double-strand-break-repair-capacity-of-peripheral-blood-lymphocytes
#19
Sandrine Lacoste, Smita Bhatia, Yanjun Chen, Ravi Bhatia, Timothy R O'Connor
Patients who undergo autologous hematopoietic stem cell transplantation (aHCT) for treatment of a relapsed or refractory lymphoma are at risk of developing therapy related- myelodysplasia/acute myeloid leukemia (t-MDS/AML). Part of the risk likely resides in inherent interindividual differences in their DNA repair capacity (DRC), which is thought to influence the effect chemotherapeutic treatments have on the patient's stem cells prior to aHCT. Measuring DRC involves identifying small differences in repair proficiency among individuals...
2017: PloS One
https://www.readbyqxmd.com/read/28195648/hematology-and-biochemistry-of-aging-evidence-of-anemia-of-the-elderly-in-old-dogs
#20
Lauren B Radakovich, Stephen C Pannone, Matthew P Truelove, Christine S Olver, Kelly S Santangelo
BACKGROUND: Effects of aging on hematologic and biochemical variables are well described in people. Anemia of the elderly is attributed to iron deficiency, anemia of chronic disease, chronic kidney disease, myelodysplasia, or idiopathic causes. Limited studies have examined these variables in aging dogs, but they have typically examined single breeds in research settings. OBJECTIVE: The objective of this study was to identify differences in CBC and biochemistry values between adult and aged dogs of many breeds...
March 2017: Veterinary Clinical Pathology
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