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https://www.readbyqxmd.com/read/29352719/prognostic-testing-patterns-and-outcomes-of-chronic-lymphocytic-leukemia-patients-stratified-by-fluorescence-in-situ-hybridization-cytogenetics-a-real-world-clinical-experience-in-the-connect-cll-registry
#1
Anthony Mato, Chadi Nabhan, Neil E Kay, Nicole Lamanna, Thomas J Kipps, David L Grinblatt, Christopher R Flowers, Charles M Farber, Matthew S Davids, Pavel Kiselev, Arlene S Swern, Shriya Bhushan, Kristen Sullivan, E Dawn Flick, Jeff P Sharman
INTRODUCTION: Prognostic genetic testing is recommended for patients with chronic lymphocytic leukemia (CLL) to guide clinical management. Specific abnormalities, such as del(17p), del(11q), and unmutated IgHV, can predict the depth and durability of the response to CLL therapy. PATIENTS AND METHODS: In the present analysis of the Connect CLL Registry (ClinicalTrials.gov identifier, NCT01081015), a prospective observational cohort study of patients treated across 199 centers, the patterns of prognostic testing and outcomes of patients with unfavorable-risk genetics were analyzed...
December 6, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29351567/whole-thorax-irradiation-of-non-human-primates-induces-persistent-nuclear-damage-and-gene-expression-changes-in-peripheral-blood-cells
#2
Shanaz A Ghandhi, Helen C Turner, Igor Shuryak, Gregory O Dugan, J Daniel Bourland, John D Olson, Janet A Tooze, Shad R Morton, Ines Batinic-Haberle, J Mark Cline, Sally A Amundson
We investigated the cytogenetic and gene expression responses of peripheral blood cells of non-human primates (NHP, Macaca mulatta) that were whole-thorax irradiated with a single dose of 10 Gy. In this model, partial irradiation of NHPs in the thoracic region (Whole Thorax Lung Irradiation, WTLI) allows the study of late radiation-induced lung injury, while avoiding acute radiation syndromes related to hematopoietic and gastrointestinal injury. A transient drop in circulating lymphocytes and platelets was seen by 9 days, followed by elevations in respiratory rate, circulating neutrophils, lymphocytes, and monocytes at 60-100 days, corresponding to computed tomography (CT) and histologic evidence of pneumonitis, and elective euthanasia of four animals...
2018: PloS One
https://www.readbyqxmd.com/read/29349871/dsp30-and-interleukin-2-as-a-mitotic-stimulant-in-b-cell-disorders-including-those-with-a-low-disease-burden
#3
Karen A Dun, Louise A Riley, Giuseppe Diano, Leanne B Adams, Eleanor Chiu, Archna Sharma
Chromosome abnormalities detected during cytogenetic investigations for B-cell malignancy offer prognostic information that can have wide ranging clinical impacts on patients. These impacts may include monitoring frequency, treatment type and disease staging level. The use of the synthetic oligonucleotide DSP30 combined with interleukin 2 (IL2) has been described as an effective mitotic stimulant in B-cell disorders, predominantly in chronic lymphocytic leukaemia (CLL) but also a range of other B-cell malignancies...
January 19, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29349655/total-body-irradiation-tremendously-impair-the-proliferation-differentiation-and-chromosomal-integrity-of-bone-marrow-derived-mesenchymal-stromal-stem-cells
#4
Wen-Jyi Lo, Chiao-Lin Lin, Yu-Chien Chang, Li-Yuan Bai, Chen-Yuan Lin, Ji-An Liang, Long-Yuan Li, Ling-Min Chao, Chang-Fang Chiu, Chuan-Mu Chen, Su-Peng Yeh
Total body irradiation (TBI) is frequently used in hematopoietic stem cell transplantation (HSCT) and is associated with many complications due to radiation injury to the normal cells, including normal stem cells. Nevertheless, the effects of TBI on the mesenchymal stromal stem cell (MSC) are not fully understood. Bone marrow-derived MSCs (BM-MSCs) isolated from normal adults were irradiated with 200 cGy twice daily for consecutive 3 days, a regimen identical to that used in TBI-conditioning HSCT. The characteristics, differentiation potential, cytogenetics, hematopoiesis-supporting function, and carcinogenicity of the irradiated BM-MSCs were then compared to the non-irradiated control...
January 18, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29348128/pevonedistat-a-first-in-class-nedd8-activating-enzyme-nae-inhibitor-combined-with-azacitidine-in-patients-with-aml
#5
Ronan T Swords, Steven Coutre, Michael B Maris, Joshua F Zeidner, James M Foran, Jose Cruz, Harry P Erba, Jesus G Berdeja, Wayne Tam, Saran Vardhanabhuti, Iwona Pawlikowska-Dobler, Hélène M Faessel, Ajeeta B Dash, Farhad Sedarati, Bruce J Dezube, Douglas V Faller, Michael R Savona
Pevonedistat (TAK-924/MLN4924) is a novel inhibitor of NEDD8-activating enzyme (NAE) with single-agent activity in relapsed/refractory acute myeloid leukemia (AML). We performed a phase 1b study (NCT01814826) of pevonedistat (PEV) with azacitidine (AZA) based on synergistic activity seen preclinically. Primary objectives included safety and tolerability, and secondary objectives included pharmacokinetics (PK) and disease response. Patients ≥60 years with treatment-naïve AML, unfit for standard induction therapy, received PEV 20 or 30 mg/m2 IV on days 1, 3, and 5, combined with fixed-dose AZA (75 mg/m2 IV/SC) on days 1-5, 8, and 9, every 28 days...
January 18, 2018: Blood
https://www.readbyqxmd.com/read/29345176/bone-marrow-vegfc-expression-is-associated-with-multilineage-dysplasia-and-several-prognostic-markers-in-adult-acute-myeloid-leukemia-but-not-with-survival
#6
Vicent Guillem, Marisa Calabuig, Salut Brunet, Jordi Esteve, Lourdes Escoda, David Gallardo, Josep-Maria Ribera, María Paz Queipo de Llano, Montserrat Arnan, Carme Pedro, María Luz Amigo, Josep M Martí-Tutusaus, Antoni García-Guiñón, Joan Bargay, Antonia Sampol, Olga Salamero, Llorenç Font, Carme Talarn, Montserrat Hoyos, Marina Díaz-Beyá, Ana Garrido, Blanca Navarro, Josep Nomdédeu, Jordi Sierra, Mar Tormo
Vascular endothelial growth factor C (VEGFC) stimulates leukemia cell proliferation and survival, and promotes angiogenesis. We studied VEGFC expression in bone marrow samples from 353 adult acute myeloid leukemia (AML) patients and its relationship with several clinical, cytogenetic, and molecular variables. We also studied the expression of 84 genes involved in VEGF signaling in 24 patients. We found that VEGFC expression was higher in AML patients with myelodysplasia-related changes (AML-MRC) than in patients with non-AML-MRC...
January 18, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29344579/prognostic-significance-of-cytogenetic-heterogeneity-in-patients-with-newly-diagnosed-multiple-myeloma
#7
Maximilian Merz, Anna Jauch, Thomas Hielscher, Tilmann Bochtler, Stefan Olaf Schönland, Anja Seckinger, Dirk Hose, Uta Bertsch, Kai Neben, Marc Steffen Raab, Jens Hillengass, Hans Salwender, Igor Wolfgang Blau, Hans-Walter Lindemann, Ingo G H Schmidt-Wolf, Christof Scheid, Mathias Haenel, Katja C Weisel, Hartmut Goldschmidt
We investigated subclonal cytogenetic aberrations (CA) detected by interphase fluorescence in situ hybridization (iFISH) in patients with newly diagnosed multiple myeloma (MM) enrolled in the Haemato Oncology Foundation for Adults in the Netherlands (HOVON)-65/German-Speaking MM Group (GMMG)-HD4 phase 3 trial. Patients were either treated with 3 cycles of vincristine, Adriamycin, and dexamethasone or bortezomib, Adriamycin, and dexamethasone and then thalidomide or bortezomib maintenance after tandem autologous transplantation...
January 9, 2018: Blood Advances
https://www.readbyqxmd.com/read/29344091/the-correlation-between-gain-of-chromosome-8q-and-survival-in-patients-with-clear-and-papillary-renal-cell-carcinoma
#8
Reza Mehrazin, Essel Dulaimi, Robert G Uzzo, Karthik Devarjan, Jianming Pei, Marc C Smaldone, Alexander Kutikov, Joseph R Testa, Tahseen Al-Saleem
Background: The proto-oncogene c-MYC, located on chromosome 8q, can be upregulated through gain of 8q, causing alteration in biology of renal cell carcinoma (RCC). The aim of this study was to evaluate the prevalence of c-MYC through chromosome 8q gain and to correlate findings with cancer-specific mortality (CSM), and overall survival (OS). Methods: Cytogenetic analysis by conventional or Chromosomal Genomic Microarray Analysis (CMA) was performed on 414 renal tumors...
January 2018: Therapeutic Advances in Urology
https://www.readbyqxmd.com/read/29344089/bone-marrow-failure-may-be-caused-by-chromosome-anomalies-exerting-effects-on-runx1t1-gene
#9
R Valli, L Vinti, A Frattini, M Fabbri, G Montalbano, C Olivieri, A Minelli, F Locatelli, F Pasquali, E Maserati
Background: The majority of the cases of bone marrow failure syndromes/aplastic anaemias (BMFS/AA) are non-hereditary and considered idiopathic (80-85%). The peripheral blood picture is variable, with anaemia, neutropenia and/or thrombocytopenia, and the patients with idiopathic BMFS/AA may have a risk of transformation into a myelodysplastic syndrome (MDS) and/or an acute myeloid leukaemia (AML), as ascertained for all inherited BMFS. We already reported four patients with different forms of BMFS/AA with chromosome anomalies as primary etiologic event: the chromosome changes exerted an effect on specific genes, namely RUNX1, MPL, and FLI1, leading to the disease...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29342995/-pediatric-myeloid-neoplasms-associated-with-eosinophilia-and-platelet-derived-growth-factor-receptor-beta-gene-rearrangement-a-case-report-and-literature-review
#10
X Y Zhang, T F Liu, C W Li, Q H Li, X F Zhu
Objective: To investigate the clinical features and therapeutic strategies of childhood myeloid neoplasms associated with eosinophilia and platelet-derived growth factor receptor beta (PDGFRB) gene rearrangement. Methods: Clinical data of myeloid neoplasms associated with eosinophilia and t (1;5) (q21;q33) chromosomal translocation of PDGFRB gene rearrangement in a child hospitalized in Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences on May 2015 was collected and analyzed...
January 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29342280/epigenetic-differentiation-of-natural-populations-of-lilium-bosniacum-associated-with-contrasting-habitat-conditions
#11
V Zoldoš, I Biruš, E Muratovic, Z Šatovic, A Vojta, O Robin, F Pustahija, F Bogunic, V Vicic Bockor, S Siljak-Yakovlev
Epigenetic variation in natural populations with contrasting habitats might be an important element, in addition to the genetic variation, in plant adaptation to environmental stress. Here, we assessed genetic, epigenetic and cytogenetic structure of the three Lilium bosniacum populations growing on distinct habitats. One population was growing under habitual ecological conditions for this species and the other two were growing under stress associated with high altitude and serpentine soil. Amplified fragment length polymorphism (AFLP) and methylation-sensitive amplification polymorphism (MSAP) analyses revealed that the three populations did not differentiate genetically, but were clearly separated in the three distinct clusters according to DNA methylation profiles...
January 12, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29341334/incidence-and-prognostic-impact-of-cytogenetic-aberrations-in-patients-with-systemic-mastocytosis
#12
Nicole Naumann, Mohamad Jawhar, Juliana Schwaab, Sebastian Kluger, Johannes Lübke, Georgia Metzgeroth, Henning D Popp, Nada Khaled, Hans-Peter Horny, Karl Sotlar, Peter Valent, Claudia Haferlach, Gudrun Göhring, Brigitte Schlegelberger, Manja Meggendorfer, Wolf-Karsten Hofmann, Nicholas C P Cross, Andreas Reiter, Alice Fabarius
The clinical behavior of systemic mastocytosis (SM) is strongly associated with activating mutations in KIT (D816V in >80% of cases), with the severity of the phenotype influenced by additional somatic mutations, e.g. in SRSF2, ASXL1 or RUNX1. Complex molecular profiles are frequently associated with the presence of an associated hematologic neoplasm (AHN) and an unfavorable clinical outcome. However, little is known about the incidence and prognostic impact of cytogenetic aberrations. We analyzed cytogenetic and molecular characteristics of 109 patients (KIT D816V+, n=102, 94%) with indolent (ISM, n=26) and advanced SM (n=83) with (n=73, 88%) or without AHN...
January 17, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29340131/acute-myeloid-leukemia-genetic-alterations-and-their-clinical-prognosis
#13
REVIEW
Francisco Alejandro Lagunas-Rangel, Venice Chávez-Valencia, Miguel Ángel Gómez-Guijosa, Carlos Cortes-Penagos
Acute myeloid leukemia (AML) is a group of hematological diseases, phenotypic and genetically heterogeneous, characterized by abnormal accumulation of blast cells in the bone marrows and peripheral blood. Its incidence rate is approximately 1.5 per 100,000 in infants younger than 1 year of age and 25 per 100,000 persons in octogenarians. Traditionally, cytogenetic markers are used to stratify patients in three risk categories: favorable, intermediate and unfavorable. However, the forecast stratification and the treatment decision for patients with normal karyotype shows difficulties due to the high clinical heterogeneity...
October 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/29339662/cytogenetic-characterization-of-eight-odonata-species-originating-from-the-curonian-spit-the-baltic-sea-russia-using-c-banding-and-fish-with-18s-rdna-and-telomeric-ttagg-n-probes
#14
Valentina G Kuznetsova, Anna Maryańska-Nadachowska, Nazar A Shapoval, Boris A Anokhin, Anatoly P Shapoval
We studied the karyotypes of 8 dragonfly species originating from the Curonian Spit (the Baltic Sea, Russia) using C-banding and FISH with 18S rDNA and "insect" telomeric (TTAGG)n probes. Our results show that Leucorrhinia rubicunda, Libellula depressa, L. quadrimaculata, Orthetrum cancellatum, Sympetrum danae, and S. vulgatum from the family Libellulidae, as well as Cordulia aenea and Epitheca bimaculata from the family Corduliidae share 2n = 25 (24 + X) in males, with a minute pair of m-chromosomes being present in every karyotype except for that of C...
January 17, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29339097/safety-and-preliminary-efficacy-of-venetoclax-with-decitabine-or-azacitidine-in-elderly-patients-with-previously-untreated-acute-myeloid-leukaemia-a-non-randomised-open-label-phase-1b-study
#15
Courtney D DiNardo, Keith W Pratz, Anthony Letai, Brian A Jonas, Andrew H Wei, Michael Thirman, Martha Arellano, Mark G Frattini, Hagop Kantarjian, Relja Popovic, Brenda Chyla, Tu Xu, Martin Dunbar, Suresh K Agarwal, Rod Humerickhouse, Mack Mabry, Jalaja Potluri, Marina Konopleva, Daniel A Pollyea
BACKGROUND: Elderly patients (aged ≥65 years) with acute myeloid leukaemia have poor outcomes and no effective standard-of-care therapy exists. Treatment with hypomethylating agents such as azacitidine and decitabine is common, but responses are modest and typically short-lived. The oral anti-apoptotic B-cell lymphoma 2 protein inhibitor, venetoclax, has shown promising single-agent activity in patients with relapsed or refractory acute myeloid leukaemia and preclinical data suggested synergy between hypomethylating agents and venetoclax, which led to this combination phase 1b study...
January 12, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29338825/efficacy-of-rituximab-for-patients-with-chronic-lymphocytic-leukemia
#16
Heng Li, Wen Jie Xiong, Hui Min Liu, Shu Hua Yi, Rui Lü, Ting Yu Wang, Zhen Yu, Lu Gui Qiu, Zeng Jun Li
Objective To evaluate the efficacy of rituximab in treating chronic lymphocytic leukemia (CLL). Methods The clinical data of CLL patients receiving fludarabine,cyclophosphamide±rituximab (with or without rituximab) regimen or cyclophosphamide,vincristine,and prednisone±doxorubicin±rituximab regimen in our hospital from March 2000 to February 2015 were analyzed retrospectively. Therapeutic efficacies and survivals of patients treated with different regimens were evaluated and compared. Results The complete response (CR) rate and the overall response rate (ORR) in 72 patients (43...
December 20, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/29338095/patient-controlled-tissue-collection-for-genetic-testing-after-early-pregnancy-loss-a-pilot-study
#17
Alexander Kucherov, Jessica Atrio, Zev Williams
OBJECTIVE: To determine how frequently and effectively products of conception can be obtained among women pursuing medical management of early pregnancy loss. METHODS: This pilot study was conducted to assess products of conception recovery outcomes for participants opting for medical management compared to women opting for surgical aspiration A tissue-collection kit was provided to women opting for medical management. Outcomes measures included successful collection of products of conception, quantity and integrity of DNA, and participant satisfaction with the process...
January 16, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29337680/in-vitro-assessment-of-the-cytotoxic-dna-damaging-and-cytogenetic-effects-of-hydroquinone-in-human-peripheral-blood-lymphocytes
#18
Karlo Jurica, Irena Brčić Karačonji, Vesna Benković, Nevenka Kopjar
This study investigated the mechanisms of hydroquinone toxicity and assessed the relationships between its cytotoxic, genotoxic, and cytogenetic effects tested at 8, 140, and 280 μg mL-1 in human peripheral blood lymphocytes exposed for 24 h. The outcomes of the treatments were evaluated using the apoptosis/necrosis assay, the alkaline comet assay, and the cytokinesis-block micronucleus (CBMN) cytome assay. The tested hydroquinone concentrations produced relatively weak cytotoxicity in resting lymphocytes, which mostly died via apoptosis...
December 20, 2017: Arhiv za Higijenu Rada i Toksikologiju
https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#19
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29335083/-clinical-and-cytogenetic-study-in-a-child-with-de-novo-chromosome-9-abnormality
#20
Bi-Yu Lu, Jian-Qiang Tan, De-Jian Yuan, Wen-Dan Wang, Xiao-Ni Wei, Ti-Zhen Yan, Ren Cai
This study aimed to analyze the clinical phenotype of chromosome 9p deletion or duplication and its relationship with karyotype. A patient, female, aged 6 months, visited the hospital due to motor developmental delay. Karyotype analysis identified abnormalities of chromosome 9 short arm, and high-throughput sequencing found 9p24.3-9p23 deletion and 9p23-9p13.1 duplication. Her parents had a normal karyotype. Karyotype analysis combined with high-throughput sequencing is of great significance for improving the efficiency of etiological diagnosis in children with motor developmental delay or multiple congenital deformities and mental retardation...
January 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
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