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Myelodysplasia

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https://www.readbyqxmd.com/read/28522925/urinary-tract-stone-development-in-patients-with-myelodysplasia-subjected-to-augmentation-cystoplasty
#1
Courtney L Shepard, Guaqiao Wang, Betsy D Hopson, Erika B Bunt, Dean G Assimos
Patients with myelodysplasia who have undergone augmentation cystoplasty are at risk for urinary tract stones. We sought to determine the incidence and risk factors for stone development in this population. The charts of 40 patients with myelodysplasia who have undergone augmentation cystoplasty were reviewed. None had a prior history of urinary tract stones. All patients were seen on an annual basis with plain abdominal imaging, renal ultrasonography, and laboratory testing. Statistical analysis included a multivariable bootstrap resampling method and Student's t-test...
2017: Reviews in Urology
https://www.readbyqxmd.com/read/28513614/recurrent-somatic-jak-stat-pathway-variants-within-a-runx1-mutated-pedigree
#2
Kiran Tawana, Jun Wang, Péter A Király, Krisztián Kállay, Gábor Benyó, Marianna Zombori, Judit Csomor, Ahad Al Seraihi, Ana Rio-Machin, András Matolcsy, Claude Chelala, Jamie Cavenagh, Jude Fitzgibbon, Csaba Bödör
Germline variants within the transcription factor RUNX1 are associated with familial platelet disorder and acute leukemia in over 40% of carriers. At present, the somatic events triggering leukemic transformation appear heterogeneous and profiles of leukemia initiation across family members are poorly defined. We report a new RUNX1 family where three sisters harboring a germline nonsense RUNX1 variant, c.601C>T (p.(Arg201*)), developed acute myelomonocytic leukemia (AML) at 5 years of age. Whole-exome sequencing of tumor samples revealed all three siblings independently acquired variants within the JAK-STAT pathway, specifically targeting JAK2 and SH2B3 (a negative regulator of JAK2), while also sharing the 46/1 haplotype linked with sporadic JAK2-positive myeloproliferative neoplasms...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28502936/successful-treatment-of-beh%C3%A3-et-s-disease-associated-with-acute-myeloid-leukemia-with-myelodysplasia-related-changes-using-azacitidine-and-tacrolimus-before-allogeneic-hematopoietic-stem-cell-transplantation
#3
Yukinori Nakamura, Masafumi Matsuguma, Yoshihiro Tokunaga, Kaoru Yamamoto, Mayumi Tanaka, Yoshinori Tanaka, Toshiaki Yujiri, Yukio Tanizawa
The coexistence of acute myeloid leukemia (AML) with Behçet's disease (BD) is rare. The optimum treatment for AML-associated BD has not been established. We herein report a patient with BD who developed AML with myelodysplasia-related changes. Induction chemotherapy caused complete remission of the AML but worsened the BD. Thereafter, AML was treated with azacitidine. The BD was steroid-dependent. Tacrolimus was added, which improved the BD. The patient underwent allogeneic hematopoietic stem cell transplantation (HSCT) and remains in complete remission for both diseases...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28499585/multipotent-adult-progenitor-cells-improve-the-hematopoietic-function-in-myelodysplasia
#4
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/28495916/myelodysplasia-and-liver-disease-extend-the-spectrum-of-rtel1-related-telomeropathies
#5
Shirleny R Cardoso, Alicia C M Ellison, Amanda J Walne, David Cassiman, Manoj Raghavan, Bhuvan Kishore, Philip Ancliff, Carmen Rodríguez-Vigil, Bieke Dobbels, Ana Rio-Machin, Ahad F H Al Seraihi, Nikolas Pontikos, Hemanth Tummala, Tom Vulliamy, Inderjeet Dokal
No abstract text is available yet for this article.
May 11, 2017: Haematologica
https://www.readbyqxmd.com/read/28491035/proteomic-analysis-reveals-autophagy-as-pro-survival-pathway-elicited-by-long-term-exposure-with-5-azacitidine-in-high-risk-myelodysplasia
#6
Alessandra Romano, Cesarina Giallongo, Piera La Cava, Nunziatina L Parrinello, Antonella Chiechi, Calogero Vetro, Daniele Tibullo, Francesco Di Raimondo, Lance A Liotta, Virginia Espina, Giuseppe A Palumbo
Azacytidine (5-AZA) is the standard first-choice treatment for high-risk myelodysplasia (MDS) patients. However, the clinical outcome for those patients who interrupt treatment or whose disease failed to respond is very poor. In order to identify the cellular pathways that are modified by long-term exposure to 5-AZA, we evaluated key proteins associated with the autophagy pathway by reverse-phase microarray (RPPA). Comparing bone marrow mononucleated cells (BMMCs) obtained from 20 newly-diagnosed patients and after four 5-AZA cycles we found an increased autophagy signaling...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28466487/risk-of-histological-transformation-and-therapy-related-myelodysplasia-acute-myeloid-leukaemia-in-patients-receiving-radioimmunotherapy-for-follicular-lymphoma
#7
Narendranath Epperla, Anthony Q Pham, Brian L Burnette, Gregory A Wiseman, Thomas M Habermann, William R Macon, Stephen M Ansell, David J Inwards, Ivana N Micallef, Patrick B Johnston, Svetomir N Markovic, Luis F Porrata, Joseph P Colgan, Kay M Ristow, Grzegorz S Nowakowski, Thomas E Witzig
Histological transformation (HT) of follicular lymphoma (FL) to an aggressive lymphoma after chemotherapy remains a key issue. The incidence of HT after radioimmunotherapy (RIT) is unknown. This single institution study analysed the risk of HT in FL after treatment with yttrium-90 ibritumomab tiuxetan in 115 consecutive patients treated during 1987-2012. RIT was administered for progressive FL in 111 (97%) patients and as first-line therapy in the remaining 4. 28% (n = 32) had HT, occurring at a median of 60 months from diagnosis and 20 months after RIT...
May 3, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28408108/busulfan-drug-monitoring-is-needed-in-patients-undergoing-allogeneic-stem-cell-transplantation
#8
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
#9
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...
May 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28369036/chromatin-remodeling-factor-smarcd2-regulates-transcriptional-networks-controlling-differentiation-of-neutrophil-granulocytes
#10
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...
May 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
#11
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
#12
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
#13
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-messenger-rna-splicing-alterations-drive-myelodysplasia
#14
REVIEW
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.
May 4, 2017: Blood
https://www.readbyqxmd.com/read/28323261/corrigendum-ubiquitination-of-hnrnpa1-by-traf6-links-chronic-innate-immune-signaling-with-myelodysplasia
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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