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https://www.readbyqxmd.com/read/28748012/-association-between-williams-syndrome-and-adrenal-insufficiency
#1
Meryem Rchachi, Maazou Mahamane Larwanou, Hanan El Ouahabi, Farida Ajdi
Williams syndrome is a developmental disorder including dysmorphia, cardiovascular malformations and a specific neuropsychological profile together with other associated disorders. We report the case of a 17-year old girl, born of a non-inbred marriage, with Williams syndrome discovered during an assessment of degree of failure to thrive. Its association with primary adrenal insufficiency makes it unique. Diagnosis is confirmed by cytogenetic and molecular analysis. Its management consists of the implementation of treatment for adrenal insufficiency associated with a clinico-biological monitoring...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28746789/cytogenetic-clonal-evolution-in-myelodysplastic-syndromes-is-associated-with-inferior-prognosis
#2
Judith Neukirchen, Michael Lauseker, Barbara Hildebrandt, Ann-Christin Nolting, Jennifer Kaivers, Guido Kobbe, Norbert Gattermann, Rainer Haas, Ulrich Germing
BACKGROUND: The karyotype of bone marrow cells at the time of diagnosis is a strong prognostic parameter for overall survival as well as acute myeloid leukemia (AML) progression in patients with myelodysplastic syndromes (MDS). However, to the authors' knowledge, few data exist regarding the prognostic impact of cytogenetic clonal evolution during the course of MDS. METHODS: The authors evaluated follow-up karyotype analyses in 549 patients from the Dusseldorf MDS Registry...
July 26, 2017: Cancer
https://www.readbyqxmd.com/read/28746406/multiple-approaches-to-understanding-the-taxonomic-status-of-an-enigmatic-new-scorpion-species-of-the-genus-tityus-buthidae-from-the-biogeographic-island-of-paraje-tres-cerros-argentina
#3
Andrés A Ojanguren-Affilastro, Renzo S Adilardi, Rodrigo Cajade, Martín J Ramírez, F Sara Ceccarelli, Liliana M Mola
Tityus curupi n. sp., belonging to the bolivianus complex, is described from the biogeographically distinct area of Paraje Tres Cerros in north-eastern Argentina. We also present a molecular species delimitation analysis between Tityus curupi n. sp. and its sister species Tityus uruguayensis Borelli 1901 to confirm species integrity. Furthermore, a cytogenetic analysis is presented for these two species which contain different multivalent associations in meiosis, as a consequence of chromosome rearrangements, and the highest chromosome numbers in the genus...
2017: PloS One
https://www.readbyqxmd.com/read/28744655/whose-turn-chromosome-research-and-the-study-of-the-human-genome
#4
Soraya de Chadarevian
A common account sees the human genome sequencing project of the 1990s as a "natural outgrowth" of the deciphering of the double helical structure of DNA in the 1950s. The essay aims to complicate this neat narrative by putting the spotlight on the field of human chromosome research that flourished at the same time as molecular biology. It suggests that we need to consider both endeavors - the human cytogeneticists who collected samples and looked down the microscope and the molecular biologists who probed the molecular mechanisms of gene function - to understand the rise of the human genome sequencing project and the current genomic practices...
July 25, 2017: Journal of the History of Biology
https://www.readbyqxmd.com/read/28743306/detection-of-22-common-leukemic-fusion-genes-using-a-single-step-multiplex-qrt-pcr-based-assay
#5
Xiaodong Lyu, Xianwei Wang, Lina Zhang, Zhenzhu Chen, Yu Zhao, Jieying Hu, Ruihua Fan, Yongping Song
BACKGROUND: Fusion genes generated from chromosomal translocation play an important role in hematological malignancies. Detection of fusion genes currently employ use of either conventional RT-PCR methods or fluorescent in situ hybridization (FISH), where both methods involve tedious methodologies and require prior characterization of chromosomal translocation events as determined by cytogenetic analysis. In this study, we describe a real-time quantitative reverse transcription PCR (qRT-PCR)-based multi-fusion gene screening method with the capacity to detect 22 fusion genes commonly found in leukemia...
July 25, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28743165/prognostic-factors-and-survival-outcomes-in-patients-with-chronic-myeloid-leukemia-in-blast-phase-in-the-tyrosine-kinase-inhibitor-era-cohort-study-of-477-patients
#6
Preetesh Jain, Hagop M Kantarjian, Ahmad Ghorab, Koji Sasaki, Elias J Jabbour, Graciela Nogueras Gonzalez, Rashmi Kanagal-Shamanna, Ghayas C Issa, Guillermo Garcia-Manero, Devendra Kc, Sara Dellasala, Sherry Pierce, Marina Konopleva, William G Wierda, Srdan Verstovsek, Naval G Daver, Tapan M Kadia, Gautam Borthakur, Susan O'Brien, Zeev Estrov, Farhad Ravandi, Jorge E Cortes
BACKGROUND: Outcomes in patients with chronic myeloid leukemia in blast phase (CML-BP) are historically dismal. Herein, the authors sought to analyze the characteristics, prognostic factors, and survival outcomes in patients with CML-BP in the tyrosine kinase inhibitor (TKI) era. METHODS: A total of 477 patients with CML-BP were treated with a TKI at some point during the course of their CML. Cox proportional hazard models identified characteristics that were predictive of survival...
July 25, 2017: Cancer
https://www.readbyqxmd.com/read/28743118/disappearance-of-bone-marrow-fibrosis-in-a-patient-with-chronic-myeloid-leukemia-treated-with-dasatinib
#7
Ernesto Vigna, Bruno Martino, Francesco Bacci, Anna Grazia Recchia, Francesco Mendicino, Rosellina Morelli, Francesca Romana Mauro, Caterina Musolino, Rosa Greco, Eugenio Lucia, Elena Sabattini, Fortunato Morabito, Massimo Gentile
We report a case of a chronic myeloid leukemia patient showing progressive bone marrow fibrosis and anemia during imatinib therapy. Given the loss of major molecular response, we switched treatment to dasatinib 100 mg daily, observing a reduction in BCR-ABL transcript, a significant improvement of anemia, and a gradual disappearance of fibrosis. After 7 years of dasatinib therapy the patient maintains a complete cytogenetic response and a deep molecular response; the last bone biopsy confirmed the absence of fibrosis...
July 26, 2017: Chemotherapy
https://www.readbyqxmd.com/read/28741802/cytogenetic-tests-for-animal-production-state-of-the-art-and-perspectives
#8
REVIEW
I Udroiu, A Sgura
Cytogenetic tests are effective tools for monitoring the health status of livestock and improving their genetic value. Cytogenetic screening allows for the detection of animals carrying chromosomal aberrations and to avoid using them as breeders. Progress in karyotype monitoring, with new molecular probes and automation, has greatly increased the productivity of this procedure. Several genotoxicity tests are available to detect the possible presence and effects of pollutants or drugs. Among these, the micronucleus test and the Comet assay are the most convenient in terms of costs and benefits...
July 25, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28735742/genotoxicity-of-gemfibrozil-in-the-gilthead-seabream-sparus-aurata
#9
A Barreto, L G Luis, A M V M Soares, P Paíga, L H M L M Santos, C Delerue-Matos, K Hylland, S Loureiro, M Oliveira
Widespread use of pharmaceuticals and suboptimal wastewater treatment have led to increased levels of these substances in aquatic ecosystems. Lipid-lowering drugs such as gemfibrozil, which are among the most abundant human pharmaceuticals in the environment, may have deleterious effects on aquatic organisms. We examined the genotoxicity of gemfibrozil in a fish species, the gilthead seabream (Sparus aurata), which is commercially important in southern Europe. Following 96-h waterborne exposure, molecular (erythrocyte DNA strand breaks) and cytogenetic (micronuclei and other nuclear abnormalities in cells) endpoints were measured...
September 2017: Mutation Research
https://www.readbyqxmd.com/read/28735483/amlprofiler-a-diagnostic-and-prognostic-microarray-for-acute-myeloid-leukemia
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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