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https://www.readbyqxmd.com/read/28735483/amlprofiler-a-diagnostic-and-prognostic-microarray-for-acute-myeloid-leukemia
#1
Marco Alessandrini, Sharon S Kappala, Michael S Pepper
Acute myeloid leukemia is characterized by the proliferation and accumulation of immature hematopoietic cells of the myeloid lineage in the bone marrow. The disease is typified by diverse genetic abnormalities and marked heterogeneity both with regard to response to treatment and survival. The AMLprofiler is a qualitative in vitro diagnostic microarray developed by SkylineDx for use with Affymetrix technology. The AMLprofiler makes use of RNA chemistry and incorporates seven separate assays based on three different technologies-cytogenetics, mutation, and expression analysis-to predict post-therapy survival rates in patients with acute myeloid leukemia...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28735480/immunophenotyping-by-multiparameter-flow-cytometry
#2
Weina Chen, Hung S Luu
Multiparameter flow cytometry has become an indispensable tool for the diagnosis and classification of acute myeloid leukemia (AML). The basic method relies on the unique ability to detect immunophenotypic abnormalities on discrete subpopulations. The primary roles in the initial assessment of AML are to determine the immaturity of the leukemic population, define the lineage and the immunophenotypic aberrancies in blasts, and identify characteristic immunophenotypic features to predict important recurrent cytogenetic and genetic abnormalities and prognosis...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28735479/immunohistochemistry-in-acute-myeloid-leukemia
#3
Michael W Cruise
The World Health Organization's Classification of Tumours of Haematopoietic and Lymphoid Tissues (Swerdlow et al. (eds) WHO Classification of tumours of haematopoietic and lymphoid tissues, 4th edn. WHO Press, Lyon, 2008) created a classification scheme incorporating genetic, molecular, morphologic, and immunophenotypic characteristics. The diagnosis of acute myeloid leukemia requires equal to or greater than 20% blasts (except in some cases with specific cytogenetic abnormalities or in erythroleukemia). The diagnostic work up typically includes morphologic, cytochemical, and immunophenotypic features...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28735478/cytochemical-staining
#4
Michele E Paessler, Marybeth Helfrich, Gerald B W Wertheim
Historically, the diagnosis and classification of acute leukemia involved morphologic review of blasts in the peripheral blood and bone marrow smears and cytochemical staining. Cytochemical stains, which are enzymatic colorimetric reactions that occur in the cells of interest, were necessary to assign and confirm myeloid and lymphoid lineage. In the current WHO 2008 Classification of leukemia, immunophenotyping and cytogenetic analysis have largely replaced cytochemical staining in the characterization of acute leukemias...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28735477/molecular-malfeasance-mediating-myeloid-malignancies-the-genetics-of-acute-myeloid-leukemia
#5
Rebecca L King, Adam Bagg
A remarkable number of different, but recurrent, structural cytogenetic abnormalities have been observed in AML, and the 2016 WHO AML classification system incorporates numerous distinct entities associated with translocations or inversions, as well as others associated with single gene mutations into a category entitled "AML with recurrent genetic abnormalities." The AML classification is heavily reliant on cytogenetic and molecular information based on conventional genetic techniques (including karyotype, fluorescence in situ hybridization, reverse transcriptase polymerase chain reaction, single gene sequencing), but large-scale next generation sequencing is now identifying novel mutations...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28730893/multicenter-study-of-genetic-abnormalities-associated-with-severe-oligospermia-and-non-obstructive-azoospermia
#6
Chong Xie, Xiangfeng Chen, Yulin Liu, Zhengmu Wu, Ping Ping
Objective * Chong Xie, Xiangfeng Chen, and Yulin Liu contributed equally to this work. Genetic defects are identified in nearly 20% of infertile males. Determining the frequency and types of major genetic abnormalities in severe male infertility helps inform appropriate genetic counseling before assisted reproductive techniques. Methods Cytogenetic results of 912 patients with non-obstructive azoospermia (NOA) and severe oligozoospermia (SOS) in Eastern China were reviewed in this multicenter study from January 2011 to December 2015...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28730367/prevalence-of-chromosomal-aberrations-in-argentinean-agricultural-workers
#7
Graciela Eugenia Bianco, Eva Suarez, Lauro Cazon, Teresita Beatriz de la Puente, Marcelo Rafael Benitez Ahrendts, Julio César De Luca
Little is known about biosecurity measures and toxic effects during pesticide application in the province of Jujuy, Argentina, particularly concerning the protective measures and mixture of pesticides used by rural workers. We carried out an observational study of agricultural workers from Jujuy (76 exposed subjects and 53 controls) to investigate the prevalence of chromosomal aberrations (CAs) in human lymphocytes as well as the activity level of acetylcholinesterase (AChE) in red blood cell erythrocytes. Whole blood samples (5 mL) were collected in heparinized Vacutainer tubes for cytogenetic analysis and erythrocyte cholinesterase activity determination according to Ellman's method...
July 21, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28727788/oecomys-catherinae-sigmodontinae-cricetidae-evidence-for-chromosomal-speciation
#8
Stella Miranda Malcher, Julio Cesar Pieczarka, Lena Geise, Rogério Vieira Rossi, Adenilson Leão Pereira, Patricia Caroline Mary O'Brien, Paulo Henrique Asfora, Victor Fonsêca da Silva, Maria Iracilda Sampaio, Malcolm Andrew Ferguson-Smith, Cleusa Yoshiko Nagamachi
Among the Oryzomyini (Sigmodontinae), Oecomys is the most speciose, with 17 species. This genus presents high karyotypic diversity (2n = 54 to 2n = 86) and many taxonomic issues at the species level because of the presence of cryptic species and the overlap of morphological characters. For these reasons the real number of species of Oecomys may be underestimated. With the aim of verifying if the taxon Oecomys catherinae is composed of more than one species, we made comparative studies on two populations from two regions of Brazil, one from the Amazon and another from the Atlantic Forest using both classical cytogenetics (G- and C-banding) and comparative genomic mapping with whole chromosome probes of Hylaeamys megacephalus (HME), molecular data (cytochrome b mitochondrial DNA) and morphology...
2017: PloS One
https://www.readbyqxmd.com/read/28727488/microsatellites-mapping-for-non-model-species-with-chromosomal-rearrangement-a-case-study-in-the-frog-quasipaa-boulengeri-anura-dicroglossidae
#9
Xiuyun Yuan, Siqi Yuan, Ya Liu, Yun Xia, Xiaomao Zeng
Gene mapping is an important resource for understanding the evolution of genes and cytogenetics. Model species with a known genetic map or genome sequence allow for the selection of genetic markers on a desired chromosome, while it is hard to locate these markers on chromosomes of non-model species without such references. A frog species, Quasipaa boulengeri, shows chromosomal rearrangement polymorphisms, making itself a fascinating model for chromosomal speciation mediated by suppressed recombination. However, no markers have been located on its rearranged chromosomes...
July 20, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/28726804/diagnostic-cytogenetic-testing-following-positive-noninvasive-prenatal-screening-results-a-clinical-laboratory-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#10
Athena M Cherry, Yassmine M Akkari, Kimberly M Barr, Hutton M Kearney, Nancy C Rose, Sarah T South, James H Tepperberg, Jeanne M Meck
Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily as an educational tool for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these practice resources is voluntary and does not necessarily assure a successful medical outcome. This Clinical Laboratory Practice Resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28725989/imatinib-in-myeloid-lymphoid-neoplasms-with-eosinophilia-and-rearrangement-of-pdgfrb-in-chronic-or-blast-phase
#11
Mohamad Jawhar, Nicole Naumann, Juliana Schwaab, Herrad Baurmann, Jochen Casper, Tu-Anh Dang, Lutz Dietze, Konstanze Döhner, Annette Hänel, Bernd Lathan, Hartmut Link, Sina Lotfi, Ole Maywald, Stephan Mielke, Lothar Müller, Uwe Platzbecker, Otto Prümmer, Henrike Thomssen, Karin Töpelt, Jens Panse, Tom Vieler, Wolf-Karsten Hofmann, Torsten Haferlach, Claudia Haferlach, Alice Fabarius, Andreas Hochhaus, Nicholas C P Cross, Andreas Reiter, Georgia Metzgeroth
We evaluated clinical characteristics and outcome on imatinib of 22 patients with myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRB. Median age was 49 years (range 20-80), 91% were male. Fifteen different PDGFRB fusion genes were identified. Eosinophilia was absent in 4/19 (21%) cases and only 11/19 (58%) cases had eosinophils ≥1.5×10(9)/L. On imatinib, 17/17 (100%) patients in chronic phase achieved complete hematologic remission after median 2 months (range 0-13)​. Complete cytogenetic remission and/or complete molecular remission by RT-PCR were achieved in 12/13 (92%) and 12/14 patients (86%) after median 10 (range 3-34) and 19 months (range 7-110), respectively...
July 19, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28725572/novel-panel-of-protein-biomarkers-to-predict-response-to-bortezomib-containing-induction-regimens-in-multiple-myeloma-patients
#12
Kay Reen Ting, Michael Henry, Justine Meiller, Annemarie Larkin, Martin Clynes, Paula Meleady, Despina Bazou, Paul Dowling, Peter O'Gorman
BACKGROUND: Multiple myeloma (MM) is a complex heterogeneous disease. Various risk stratification models have been recommended including cytogenetic and FISH analysis to identify high-risk patients who may benefit from novel treatments, but such facilities are not widely available. The International Scoring System (ISS) using beta-2-microglobulin and albumin remains a widely used prognostic scoring system in many clinical practices; however it is not useful in predicting response to treatment in MM...
December 2017: BBA Clinical
https://www.readbyqxmd.com/read/28724956/mapping-resistance-responses-to-sclerotinia-infestation-in-introgression-lines-of-brassica-juncea-carrying-genomic-segments-from-wild-brassicaceae-b-fruticulosa
#13
Kusum Rana, Chhaya Atri, Mehak Gupta, Javed Akhatar, Prabhjodh S Sandhu, Nitin Kumar, Ravinder Jaswal, Martin J Barbetti, Surinder S Banga
Sclerotinia stem rot (Sclerotinia sclerotiorum) is a major disease of Brassica oilseeds. As suitable donors to develop resistant cultivars are not available in crop Brassicas, we introgressed resistance from a wild Brassicaceae species, B. fruticulosa. We produced 206 B. juncea-B. fruticulosa introgression lines (ILs). These were assessed for pollen grain fertility, genome size variations and resistance responses to Sclerotinia following stem inoculations under disease-conducive conditions. Of these, 115 ILs showing normal fertility and genome size were selected for cytogenetic characterization using florescent genomic in situ hybridization (Fl-GISH)...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28721613/comparative-toxicity-of-seven-rare-earth-elements-in-sea-urchin-early-life-stages
#14
Marco Trifuoggi, Giovanni Pagano, Marco Guida, Anna Palumbo, Antonietta Siciliano, Maria Gravina, Daniel M Lyons, Petra Burić, Maja Levak, Philippe J Thomas, Antonella Giarra, Rahime Oral
The widespread use of rare earth elements (REEs) in a number of technological applications raises unanswered questions related to REE-associated adverse effects. We have previously reported on the multiple impact of some REEs on the early life stages of the sea urchin Paracentrotus lividus. The present investigation was to evaluate REE toxicity to early life stages in two unrelated sea urchin species, Sphaerechinus granularis and Arbacia lixula. The comparative toxicities were tested of seven REEs, namely yttrium, lanthanum, cerium, neodymium, samarium, europium and gadolinium as chloride salts at concentrations ranging from 10(-7) to 10(-4) M...
July 18, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28721056/onset-of-chronic-myeloid-leukemia-with-complex-karyotype-in-a-pregnant-patient-case-report-and-revision-of-literature
#15
Nicola Sgherza, Elisabetta Abruzzese, Gianni Perla, Maria Marta Minervini, Vincenzo Chiello, Natale Sciannamè, Nicola Cascavilla
Approximately 10%-12% of patients in chronic-phase chronic myeloid leukemia (CP-CML) have additional chromosomal aberrations at diagnosis; moreover, CML occurs in up to 10% of pregnancy-associated leukemias, with an annual incidence of 1 per 100,000 pregnancies. In this report we describe the case of a 36-year-old female with CP-CML diagnosed in the 18th week of pregnancy and with a new complex variant translocation t(4;9;22;21)(q24;q34;q11;q22) and an additional chromosomal aberration t(1;20)(p36;p11). In consideration of her pregnancy, the patient strictly monitored her blood cell count without any specific treatment...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28719894/karyotype-evolution-and-phylogenetic-relationships-of-cricetulus-sokolovi-orlov-et-malygin-1988-cricetidae-rodentia-inferred-from-chromosomal-painting-and-molecular-data
#16
Natalia S Poplavskaya, Svetlana A Romanenko, Natalia A Serdyukova, Vladimir A Trifonov, Fengtang Yang, Wenhui Nie, Jinghuan Wang, Anna A Bannikova, Alexey V Surov, Vladimir S Lebedev
Sokolov's dwarf hamster (Cricetulus sokolovi) is the least studied representative of the striped hamsters (Cricetulus barabensis species group), the taxonomy of which remains controversial. The species was described based on chromosome morphology, but neither the details of the karyotype nor the phylogenetic relationships with other Cricetulus are known. In the present study, the karyotype of C. sokolovi was examined using cross-species chromosome painting. Molecular and cytogenetic data were employed to determine the phylogenetic position of Sokolov's hamster and to analyze the potential pathways of chromosome evolution in Cricetulus...
July 19, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28718760/cd25-expression-and-outcomes-in-older-patients-with-acute-myelogenous-leukemia-treated-with-plerixafor-and-decitabine
#17
John N Allan, Gail J Roboz, Gulce Askin, Ellen Ritchie, Joseph Scandura, Paul Christos, Duane C Hassane, Monica L Guzman
We investigated CD25 expression in older (≥60 years) patients with new acute myelogenous leukemia treated with decitabine and plerixafor. Patients resistant to therapy or survival ≤1 year had significantly higher percentages of CD25(pos) myeloid blasts in baseline bone marrow. CD25(pos) patients had an increased odds of resistance compared to CD25(neg) patients (p = .015). In univariate analysis, we found CD25(pos) patients had inferior survival compared to CD25(neg) (p = .002). In patients with intermediate risk cytogenetics, CD25(pos) status stratified patients associating with inferior survival (p = ...
July 18, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28715941/moderate-anemia-at-diagnosis-is-an-independent-prognostic-marker-of-the-eutos-sokal-and-hasford-scores-for-survival-and-treatment-response-in-chronic-phase-chronic-myeloid-leukemia-patients-with-frontline-imatinib
#18
Po-Shen Ko, Yuan-Bin Yu, Yao-Chung Liu, Yi-Tsui Wu, Man-Hsin Hung, Jyh-Pyng Gau, Chia-Jen Liu, Liang-Tsai Hsiao, Po-Min Chen, Tzeon-Jye Chiou, Chun-Yu Liu, Jin-Hwang Liu
OBJECTIVES: We aimed to examine the prognostic value of anemia for the diagnosis of chronic myeloid leukemia in the chronic phase (CML-CP) receiving imatinib. METHODS: One hundred fifty-four CML-CP patients were enrolled. The influences of moderate anemia with hemoglobin (Hb) < 10 g/dl, four scoring systems and the early molecular response at three months (BCR-ABL ≤ 10%; 3M-EMR) on the achievement of a deep molecular response (DMR, MR4.5), progression-free survival (PFS), event-free survival (EFS) and overall survival (OS) were compared...
July 18, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28714319/protective-effect-of-teucrium-polium-on-carbon-tetrachloride-induced-genotoxicity-and-oxidative-stress-in-rats
#19
Fatma Rahmouni, Mongi Saoudi, Nahed Amri, Abdelfattah El-Feki, Tarek Rebai, Riadh Badraoui
This study aimed to investigate the protective effects of Teucrium polium (TP) on carbon tetrachloride (CCl4) induced spleen, erythrocyte's oxidative stress, and genotoxicity in rats. TP was found to contain large amounts of polyphenols (150 mg GAE/G of dry plant) and flavonoids (60 mg QE/g of quercetin dry plant). The CCl4 (0.5 ml/kg) treated rats exhibited significant reductions in serum vitamin A (VA), vitamin E (VE) and total antioxidant status (TAS). Thiobarbituric acid reactive substances (TBARS) and conjugated dienes (CD) were significantly high in the CCl4 group compared to controls...
July 16, 2017: Archives of Physiology and Biochemistry
https://www.readbyqxmd.com/read/28714247/-molecular-cytogenetics-to-characterize-mechanisms-of-gene-duplication-in-pesticide-resistance
#20
REVIEW
Mithila Jugulam, Bikram S Gill
Recent advances in molecular cytogenetics empower construction of physical maps to illustrate the precise position of genetic loci on the chromosomes. Such maps provide visible information about the position of DNA sequences, including the distribution of repetitive sequences on the chromosomes. This will be an important step forward toward unraveling the genetic mechanisms implicated in chromosomal aberrations (e.g., gene duplication). In response to stress, such as pesticide selection, the duplicated genes provide an immediate adaptive advantage to organisms that overcome unfavorable conditions...
July 17, 2017: Pest Management Science
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