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https://www.readbyqxmd.com/read/28527984/personalized-prognostic-risk-score-for-long-term-survival-for-children-with-acute-leukemia-after-allogeneic-transplant
#1
Menachem Bitan, Kwang Woo Ahn, Heather R Millard, Michael A Pulsipher, Hisham Abdel-Azim, Jeffery J Auletta, Valerie Brown, Ka Wah Chan, Miguel Angel Diaz, Andrew Dietz, Marta González Vincent, Gregory Guilcher, Gregory A Hale, Robert J Hayashi, Amy Keating, Parinda Mehta, Kasiani Myers, Kristin Page, Tim Prestidge, Nirali N Shah, Angela R Smith, Ann Woolfrey, Elizabeth Thiel, Stella M Davies, Mary Eapen
We studied leukemia-free (LFS) and overall survival (OS) in children with acute myeloid (AML; n=790) and acute lymphoblastic leukemia (ALL; n=1096), transplanted between 2000 and 2010, who survived for at least 1 year in remission after related or unrelated donor transplantation. Analysis of patient-, disease- and transplantation characteristics and acute and chronic graft versus host disease (GVHD) were performed to identify factors with adverse effects on LFS and OS. These data were used to develop risk scores for survival...
May 17, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28527402/a-rare-e13a3-b2a3-bcr-abl1-fusion-transcript-with-normal-karyotype-in-chronic-myeloid-leukemia-the-challenges-in-diagnosis-and-monitoring-minimal-residual-disease-mrd
#2
M-H Duan, H Li, H Cai
Patients with chronic myeloid leukemia (CML) have a t (9;22)(q34;q11.2) or variant translocation that results in a BCR-ABL1 fusion gene. For many years, conventional karyotyping has been used as the standard diagnostic tool for t (9;22) (q34;q11.2). However, it has several limitations that may lead to failure for detecting BCR-ABL1 gene rearrangements in around 5% of all CML patients. Although reverse transcription polymerase chain reaction (RT-PCR) has evolved as a sensitive method for detecting BCR-ABL1 translocation, this method fail to detect certain BCR-ABL1 fusion transcript type, such as e13a3 (also known as b2a3), as a result of many commercially available and laboratory-developed primer sets...
May 12, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28526978/cytogenetic-biodosimetry-and-dose-rate-effect-after-radioiodine-therapy-for-thyroid-cancer
#3
Igor K Khvostunov, Vladimir A Saenko, Valeri Krylov, Andrei Rodichev, Shunichi Yamashita
This study set out to investigate chromosomal damage in peripheral blood lymphocytes of thyroid cancer patients receiving (131)I for thyroid remnant ablation or treatment of metastatic disease. The observed chromosomal damage was further converted to the estimates of whole-body dose to project the adverse side effects. Chromosomal aberration analysis was performed in 24 patients treated for the first time or after multiple courses. Blood samples were collected before treatment and 3 or 4 days after administration of 2-4 GBq of (131)I...
May 19, 2017: Radiation and Environmental Biophysics
https://www.readbyqxmd.com/read/28525891/identification-of-precision-treatment-strategies-for-relapsed-refractory-multiple-myeloma-by-functional-drug-sensitivity-testing
#4
Muntasir Mamun Majumder, Raija Silvennoinen, Pekka Anttila, David Tamborero, Samuli Eldfors, Bhagwan Yadav, Riikka Karjalainen, Heikki Kuusanmäki, Juha Lievonen, Alun Parsons, Minna Suvela, Esa Jantunen, Kimmo Porkka, Caroline A Heckman
Novel agents have increased survival of multiple myeloma (MM) patients, however high-risk and relapsed/refractory patients remain challenging to treat and their outcome is poor. To identify novel therapies and aid treatment selection for MM, we assessed the ex vivo sensitivity of 50 MM patient samples to 308 approved and investigational drugs. With the results we i) classified patients based on their ex vivo drug response profile; ii) identified and matched potential drug candidates to recurrent cytogenetic alterations; and iii) correlated ex vivo drug sensitivity to patient outcome...
May 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/28525762/minimal-residual-disease-monitoring-of-acute-myeloid-leukemia-by-massively-multiplex-digital-pcr-in-patients-with-npm1-mutations
#5
Nuria Mencia-Trinchant, Yang Hu, Maria Antonina Alas, Fatima Ali, Bas J Wouters, Sangmin Lee, Ellen K Ritchie, Pinkal Desai, Monica L Guzman, Gail J Roboz, Duane C Hassane
The presence of minimal residual disease (MRD) is widely recognized as a powerful predictor of therapeutic outcome in acute myeloid leukemia (AML), but methods of measurement and quantification of MRD in AML are not yet standardized in clinical practice. There is an urgent, unmet need for robust and sensitive assays that can be readily adopted as real-time tools for disease monitoring. NPM1 frameshift mutations are an established MRD marker present in half of patients with cytogenetically normal AML. However, detection is complicated by the existence of hundreds of potential frameshift insertions, clonal heterogeneity, and absence of sequence information when the NPM1 mutation is identified using capillary electrophoresis...
May 16, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28523762/a-retrospective-study-of-cytogenetic-results-from-amniotic-fluid-in-5328-fetuses-with-abnormal-obstetric-sonographic-findings
#6
Shuo Zhang, Caixia Lei, Junping Wu, Haiyan Sun, Yuezhou Yang, Yueping Zhang, Xiaoxi Sun
OBJECTIVES: The purpose of this study was to evaluate the diagnostic utility of karyotype analysis of amniotic fluid for fetuses with abnormal sonographic findings and to determine the detection rates of abnormal karyotypes. METHODS: We conducted a retrospective study of 5328 fetuses with abnormal sonographic findings in the first or second trimester enrolled from October 1998 and September 2015. Cytogenetic results from amniotic fluid were obtained in all of these pregnancies...
May 19, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28522110/high-dose-gemcitabine-busulfan-and-melphalan-for-autologous-stem-cell-transplant-in-patients-with-relapsed-or-refractory-myeloma-a-phase-2-trial-and-matched-pair-comparison-with-melphalan
#7
Yago Nieto, Benigno C Valdez, Sai R Pingali, Roland Bassett, Ruby Delgado, John Nguyen, Nina Shah, Uday Popat, Roy B Jones, Borje S Andersson, Alison Gulbis, Sairah Ahmed, Qaiser Bashir, Simrit Parmar, Krina Patel, Alan Myers, Gabriela Rondon, Robert Z Orlowski, Richard Champlin, Muzaffar Qazilbash
BACKGROUND: High-dose melphalan is of little benefit as a regimen for patients with relapsed or refractory myeloma undergoing an autologous stem-cell transplant (ASCT). The poor performance of single-agent melphalan in this setting prompted us to study a new high-dose combination of infused gemcitabine, busulfan, and melphalan. METHODS: We did a phase 2 trial at the University of Texas MD Anderson Cancer Center (Houston, TX, USA). We enrolled patients with primary refractory or relapsed myeloma who had received treatment with bortezomib, an immunomodulatory drug, or both, or who were receiving a salvage ASCT...
May 15, 2017: Lancet Haematology
https://www.readbyqxmd.com/read/28521734/higher-order-organisation-of-extremely-amplified-potentially-functional-and-massively-methylated-5s-rdna-in-european-pikes-esox-sp
#8
Radka Symonová, Konrad Ocalewicz, Lech Kirtiklis, Giovanni Battista Delmastro, Šárka Pelikánová, Sonia Garcia, Aleš Kovařík
BACKGROUND: Pikes represent an important genus (Esox) harbouring a pre-duplication karyotype (2n = 2x = 50) of economically important salmonid pseudopolyploids. Here, we have characterized the 5S ribosomal RNA genes (rDNA) in Esox lucius and its closely related E. cisalpinus using cytogenetic, molecular and genomic approaches. Intragenomic homogeneity and copy number estimation was carried out using Illumina reads. The higher-order structure of rDNA arrays was investigated by the analysis of long PacBio reads...
May 18, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28521466/extranodal-marginal-zone-lymphoma-of-the-uterine-cervix-with-concomitant-copy-number-gains-of-the-malt1-and-bcl2-genes-a-case-report
#9
Tomoko Takimoto, Saori Maegawa, Hiroshi Tatsumi, Hisao Nagoshi, Yoshiaki Chinen, Yuji Shimura, Tsutomu Kobayashi, Shigeo Horiike, Shigeo Nakamura, Jo Kitawaki, Junya Kuroda, Masafumi Taniwaki
Extranodal marginal zone lymphoma (EMZL) of mucosa-associated lymphoid tissue (MALT) of the uterus is rare, and the etiology, pathophysiology and cytogenetic features remain unknown at present. The present study reports a case of a 71-year-old female with EMZL of the uterine cervix that was 80 mm in diameter and invaded directly into the rectal serosa. Complete remission was successfully induced by 6 courses of immunochemotherapy with rituximab plus cyclophosphamide, doxorubicin, vincristine and prednisolone...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28521421/an-unusual-translocation-t-1-11-q21-q23-in-a-case-of-chronic-myeloid-leukemia-with-a-cryptic-philadelphia-chromosome
#10
Leandro Germán Gutiérrez, María Fernanda Noriega, Alejandro Laudicina, Mariana Quatrin, Raquel María Bengió, Irene Larripa
Chronic myeloid leukemia (CML) is characterized by the translocation t(9;22)(q34;q11) [Philadelphia (Ph) chromosome). Although not frequently occurring, additional chromosome abnormalities (ACAs) can be detected at diagnosis and a number have been associated with an adverse cytogenetic and molecular outcome. The present study reports a case of CML presenting with the translocation t(1;11)(q21;q23) and a cryptic Ph chromosome. The presence of ACAs could generate greater genetic instability, promoting the emergence of further alterations...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28520797/cytogenetic-studies-on-populations-of-camponotus-rufipes-fabricius-1775-and-camponotus-renggeri-emery-1894-formicidae-formicinae
#11
Hilton Jeferson Alves Cardoso de Aguiar, Luísa Antônia Campos Barros, Danúbia Rodrigues Alves, Cléa Dos Santos Ferreira Mariano, Jacques Hubert Charles Delabie, Silvia das Graças Pompolo
Two valid ant species, Camponotus rufipes and Camponotus renggeri, have recently been the subject of a broad discussion with reference to taxa synonymization. Both species are quite common among the Neotropical myrmecofauna and share some unique traits, such as the shape of the scape and the pilosity patterns of the tibiae and scapes. A single morphological trait can help distinguish these species; however, only a combination of different approaches can enlighten our view of the complex phylogenetic relationships prevailing in the different populations of these two taxa...
2017: PloS One
https://www.readbyqxmd.com/read/28520570/long-term-exposure-to-mst-312-leads-to-telomerase-reverse-transcriptase-overexpression-in-mcf-7-breast-cancer-cells
#12
Karollyne S Morais, Ana Flávia R Guimarãesb, Doralina A R Ramos, Fábio P Silva, Diêgo M de Oliveira
Telomerase is an enzyme responsible for telomere maintenance in almost all human cancer cells, but generally not expressed in somatic ones. Therefore, antitelomerase therapy is a potentially revolutionary therapeutic strategy, and the antitumor activity of telomerase inhibitors (TI) has been studied extensively recently, mainly for breast cancer. However, the effects expected from treatment with TI will appear only after many cell divisions, but the effects of this long-term approach are unknown. In this work, the consequences of 3120 h exposure of human breast cancer cells to TI MST-312 were investigated...
May 17, 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28514774/demonstration-of-5-methylcytosine-rich-dna-sequences-in-chiroptera
#13
Michael Schmid, Claus Steinlein, Christian Lomb, Marianne Volleth
5-Methylcytosine-rich heterochromatic regions were demonstrated in metaphase chromosomes of 5 species of Chiroptera by indirect immunofluorescence using a monoclonal anti-5-methylcytosine antibody. These species belong to 4 genera and 2 families and are characterized by divergent karyotypes. One species (Glauconycteris beatrix) has an extremely low diploid chromosome number of 2n = 22 with only meta- to submetacentric elements and remarkably large amounts of constitutive heterochromatin located in the centromeric and pericentromeric regions of all chromosome pairs...
May 18, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28511419/nasal-nk-t-cell-lymphoma-presenting-with-perforation-of-palate-a-case-report-and-review-of-literature
#14
Shreyas N Shah, Priyank R Mistry, Girish R Chauhan, Vishal Chauhan, Jayshankar Pillai
Nasal Natural Killer (NK)/T cell lymphoma, commonly mentioned in the literature as Lethal Midline Granuloma (LMG) is an unusual pathology of the oro-maxillo-facial region characterized by aggressive and progressive destruction of the face, nose, palate and pharynx. This disease is now classified as a T-cell lymphoma based on modern cytogenetics, immunologic and molecular studies. However, it is mentioned in various literatures by various names. Here, we present one such clinically diagnosed, histopathologically and immunologically confirmed case of LMG, designated as NK/T cell lymphoma in a 56-year-old male...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28510803/occupational-and-life-style-factors-acquired-mutagenicity-in-agric-workers-of-northeastern-brazil
#15
Tatiana Vieira Souza Chaves, Muhammad Torequl Islam, Manoel Odoríco de Moraes, Marcus Vinícius Oliveira Barros de Alencar, Débora Cássia Vieira Gomes, Rodrigo Mendes de Carvalho, Sharbel Weider Maluf, Fabrício Pires de Moura do Amaral, Márcia Fernanda Correia Jardim Paz, Gilberto Santos Cerqueira, Hercília Maria Lins Rolim, João Marcelo de Castro E Sousa, Ana Amélia de Carvalho Melo-Cavalcante, Maria Elisabete Amaral de Moraes
Pesticides are a complex mixture of chemicals used to protect crops from a number of pests and diseases. They have been considered as potential mutagenic agents. This study aims at evaluation of the mutagenic effect of pesticide exposure to agricultural workers through chromosomal aberrations (CA) and micronucleus (MN) assay in peripheral blood lymphocytes and oral mucosal cells, respectively. The exposed group was consisted with 97 farmers, while the control (un-exposed) group consisted of 55. The results showed a significant (p < 0...
May 16, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28510256/interregional-cytogenetic-comparisons-in-halichoeres-and-thalassoma-wrasses-labridae-of-coastal-and-insular-regions-of-the-southwestern-atlantic
#16
K D J Amorim, M B Cioffi, L A C Bertollo, R X Soares, L L Calado, A T Borges, G W W F Costa, W F Molina
The distribution patterns of marine biodiversity are complex, resulting from vicariant events and species dispersion, as well as local ecological and adaptive conditions. Furthermore, the wide geographic distribution of some species may be hindered by biogeographical barriers that can interfere in the gene flow. Cytogenetic analyses in marine fishes, especially those involving populations in small remote insular environments, remain scarce. In the Western Atlantic, species of wrasses from the genera Halichoeres and Thalassoma occur in biogeographic arrangements that make it possible to analyze cytogenetic patterns between coastal and widely separated island populations...
May 10, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28509441/the-greek-registry-of-shwachman-diamond-syndrome-molecular-and-clinical-data
#17
Polyxeni Delaporta, Christalena Sofocleous, Marina Economou, Alexandros Makis, Stavroula Kostaridou, Antonis Kattamis
This study presents the clinical phenotype and molecular analysis findings from 11 patients recorded in the Greek Shwachman-Diamond syndrome (SDS) Registry. The most severely affected patient in our registry was diagnosed at birth and is the first patient reported to require bone marrow transplantation so early in life. Severe psoriasis, a feature not previously reported in SDS, was observed in one patient. Mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS) were found in all patients. Cytogenetic analyses revealed clonal abnormalities, one novel, in two patients...
May 16, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28509416/the-importance-of-cd39-cd43-cd81-and-cd95-expression-for-differentiating-b-cell-lymphoma-by-flow-cytometry
#18
Chandra Chiappin Cardoso, Mariangeles Auat, Iris Mattos Santos-Pirath, Renata Cristina Messores Rudolf-Oliveira, Jessica Pires da Silva, Bárbara Gil Lange, Danielle Siegel, Ana Carolina Rabello de Moraes, Joanita Angela Gonzaga Del Moral, Maria Claudia Santos-Silva
BACKGROUND: B cell lymphomas' (BCL) current diagnosis is usually based on a combination of morphology, immunophenotype, recurrent cytogenetic aberration and clinical features. However, even with these diagnostic tools, a definitive diagnosis can be difficult to achieve. Therefore, the aim of this study was to assess the profile of CD39, CD43, CD81 and CD95 expression in diffuse large B cell lymphoma (DLBCL), follicular lymphoma (FL) and Burkitt lymphoma (BL) cases. METHODS: To address this issue, we investigated the expression of CD39, CD43, CD81 and CD95 by eight-color flow cytometry in retrospective cases from 2014 to 2016...
May 16, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28508996/hyalinizing-clear-cell-carcinoma-of-the-bronchus
#19
Maryam Shahi, Michelle Dolan, Paari Murugan
Hyalinizing clear cell carcinoma (HCCC) is an uncommon low-grade minor salivary gland neoplasm that usually arises in the head and neck region. We report a 55-year-old man who presented with a 2.5 cm lung mass that was partially obstructing the right bronchus intermedius. The tumor consisted of cords and nests of clear and eosinophilic cells in a hyalinized stromal background. The neoplastic cells expressed cytokeratin (CK) 7, CK 5/6, high-molecular weight cytokeratin (34BE12), p63 and p40, while TTF-1, napsin A, CK20, S100, smooth muscle actin, synaptophysin and chromogranin were negative...
May 16, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28506748/copy-number-variation-analysis-of-patients-with-intellectual-disability-from-north-west-spain
#20
Inés Quintela, Jesús Eirís, Carmen Gómez-Lado, Laura Pérez-Gay, David Dacruz, Raquel Cruz, Manuel Castro-Gago, Luz Míguez, Ángel Carracedo, Francisco Barros
Intellectual disability (ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In the last decade, microarray-based copy number variation (CNV) analysis has been proved as a strategy particularly useful in the discovery of loci and candidate genes associated with these phenotypes and is widely used in the clinics with a diagnostic purpose. In this study, we evaluated the usefulness of two genome-wide high density SNP microarrays -Cytogenetics Whole-Genome 2...
May 12, 2017: Gene
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