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https://www.readbyqxmd.com/read/28191805/ring-chromosome-may-signal-progression-of-fanconi-anemia
#1
Ream Elzain Abdelgadir, Kulthom Mohamed, Imad Fadl Elmula
BACKGROUND: Fanconi anemia (FA) is a genomic instability disorder associated with high risk of AML. Ring chromosomes are results of genomic instability and observed in many human neoplasias. The present study aimed to assess the role of ring chromosome in the progression of FA. MATERIAL AND METHODS: The study included 60 patients with provisional diagnosis of FA. A total of 5 ml of venous blood was collected and processed for complete hemogram, peripheral blood film, and breakage test...
September 2016: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/28185292/spontaneous-telangiectatic-osteosarcoma-in-a-rhesus-macaque-macaca-mulatta
#2
B Goldschmidt, Miz Calado, F C Resende, R M Caldas, L W Pinto, Caa Lopes, Fgo França, B S Meireles, I V Souza
Osteosarcoma (OS) is the most common type of bone cancer, especially in young. Telangiectatic osteosarcoma (TO) is a rare variant of OS, and hence, its occurrence, presentation, and prognosis are poorly understood. A 4-year-old female rhesus monkey presenting lameness and swelling was examined for a mass on the right humerus. Radiography revealed fracture and disorganized structure of bone tissue. Histopathological examination revealed malignant neoplasm composed of anaplastic osteoblasts, which invaded the bone marrow and surrounded blood-filled cysts in the epiphysis and diaphysis forming septa...
February 10, 2017: Journal of Medical Primatology
https://www.readbyqxmd.com/read/28179341/cytogenetic-biomonitoring-in-buccal-mucosal-cells-from-municipal-solid-waste-collectors
#3
Mariana Carvalho Andrade, Jean Nunes Dos Santos, Patricia Ramos Cury, Ana Carolina Correa Flygare, Samuel Rangel Claudio, Celina Tizuko Fujiyama Oshima, Daniel Araki Ribeiro
Waste collectors collect, transport, and process the garbage produced by people living in the city. Nowadays, this activity requires special attention due to the environmental impact of garbage and its potential consequences on human health. The aim of this study was to evaluate potential cytotoxic and mutagenic effects of garbage collection on waste collectors. For this purpose, a total of 47 male waste collectors aged from 24 to 53 years were included in the experimental group. A total of 30 men matched by age were used as the control group...
2017: Anticancer Research
https://www.readbyqxmd.com/read/28178864/clastogenic-effects-of-bisphenol-a-on-human-cultured-lymphocytes
#4
A Santovito, E Cannarsa, D Schleicherova, P Cervella
Bisphenol A is an endocrine disrupting compound widely used in the production of polycarbonate plastics and epoxy resins. It is ubiquitously present in the environment, mostly in aquatic environments, with consequent risks to the health of aquatic organisms and humans. In the present study, we analysed the cytogenetic effects of bisphenol A on human lymphocytes using in vitro chromosomal aberrations and micronuclei assays. Lymphocyte cultures were exposed to five different concentrations of BP-A (0.20, 0.10, 0...
January 1, 2017: Human & Experimental Toxicology
https://www.readbyqxmd.com/read/28178237/extrachromosomal-oncogene-amplification-drives-tumour-evolution-and-genetic-heterogeneity
#5
Kristen M Turner, Viraj Deshpande, Doruk Beyter, Tomoyuki Koga, Jessica Rusert, Catherine Lee, Bin Li, Karen Arden, Bing Ren, David A Nathanson, Harley I Kornblum, Michael D Taylor, Sharmeela Kaushal, Webster K Cavenee, Robert Wechsler-Reya, Frank B Furnari, Scott R Vandenberg, P Nagesh Rao, Geoffrey M Wahl, Vineet Bafna, Paul S Mischel
Human cells have twenty-three pairs of chromosomes. In cancer, however, genes can be amplified in chromosomes or in circular extrachromosomal DNA (ecDNA), although the frequency and functional importance of ecDNA are not understood. We performed whole-genome sequencing, structural modelling and cytogenetic analyses of 17 different cancer types, including analysis of the structure and function of chromosomes during metaphase of 2,572 dividing cells, and developed a software package called ECdetect to conduct unbiased, integrated ecDNA detection and analysis...
February 8, 2017: Nature
https://www.readbyqxmd.com/read/28159737/stem-and-progenitor-cell-alterations-in-myelodysplastic-syndromes
#6
Aditi Shastri, Britta Will, Ulrich Steidl, Amit Verma
Recent studies have demonstrated that myelodysplastic syndromes (MDS) arise from a small population of disease initiating hematopoietic stem cells (HSCs) that persist and expand through conventional therapies and are major contributors to disease progression and relapse. MDS stem and progenitor cells are characterized by key founder and driver mutations and are enriched for cytogenetic alterations. Quantitative alterations in stem and progenitor numbers are also seen in a stage specific manner in human MDS samples as well as in murine models of the disease...
February 3, 2017: Blood
https://www.readbyqxmd.com/read/28127864/continuing-role-for-classical-cytogenetics-case-report-of-a-boy-with-ring-syndrome-caused-by-complete-ring-chromosome-4-and-review-of-literature
#7
Anna Lena Burgemeister, Eva Daumiller, Ilona Dietze-Armana, Christine Klett, Clemens Freiberg, Wiebke Stark, Michael Lingen, Izabela Centonze, Günther Rettenberger, Karl Mehnert, Birgit Zirn
Constitutional ring chromosomes can be found for all human chromosomes and are very rare chromosomal abnormalities. A complete ring chromosome without loss of genetic material results from fusion of subtelomeric regions or telomere-telomere fusion. In cases of complete ring chromosome, an increased incidence of severe growth failure with no or only minor anomalies has been observed and attributed to ring syndrome. Ring syndrome is thought to be caused by "dynamic mosaicism" due to ring instability. We report a 6-year-old boy with de novo ring chromosome 4 and typical characteristics of the ring syndrome, namely, proportionate severe growth failure, microcephaly, and minor anomalies...
January 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28097454/in-vitro-cytogenetic-toxicity-of-bezafibrate-in-human-peripheral-blood-lymphocytes
#8
M Topaktas, N E Kafkas, S Sadighazadi, E S Istifli
Bezafibrate (BF) is a peroxisome proliferator-activated receptor (PPAR) agonist used as a lipid-lowering agent to treat both the familial or acquired combined forms of hyperlipidemia. BF is the only available fibrate drug that acts on all PPAR subtypes of α, β, and δ. Although there are studies that indicate a genotoxic potential associated with the use of fibrates, to our knowledge, the genotoxicity of BF in human peripheral blood lymphocytes has not been studied. In the present study, the genotoxic potential of BF was evaluated using chromosome aberration (CA) and micronucleus (MN) assays in peripheral blood lymphocytes of healthy human subjects...
January 17, 2017: Cytotechnology
https://www.readbyqxmd.com/read/28079792/amplification-of-her2-and-top2a-and-deletion-of-top2a-genes-in-a-series-of-taiwanese-breast-cancer
#9
Jim-Ray Chen, Hui-Ping Chien, Kuo-Su Chen, Cheng-Cheng Hwang, Huang-Yang Chen, Kun-Yan Yeh, Tsan-Yu Hsieh, Liang-Che Chang, Yuan-Chun Hsu, Ren-Jie Lu, Chung-Ching Hua
BACKGROUND: The prognostic relevance of topoisomerase II alpha (TOP2A) copy number change remains not well established. This study is aimed to investigate the frequency and pattern of TOP2A aberrations; to correlate TOP2A alterations with human epidermal growth factor receptor 2 (HER2) status and clinicopathological parameters, and further to explore prognostic value of TOP2A and HER2 status in breast cancer in Taiwan. METHODS: We analyzed tissue samples from 311 invasive carcinomas in tissue microarrays for TOP2A and HER2 status by fluorescent in situ hybridization...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28055232/biological-features-of-a-renal-cell-carcinoma-cell-line-derived-from-spinal-metastasis
#10
Zhenhua Zhou, Yan Li, Huiqing Wang, Xudong Wang, Jianru Xiao
The establishment of a metastatic renal cell carcinoma (mRCC) cell line can facilitate the search for molecular mechanisms involved in RCC metastasis. A novel human mRCC cell line, designated RCC96, was established from an mRCC of the spine from a 65-year-old Chinese man. Morphology, cell cycle phase, chromosome number, cell capability of migration, tumorigenicity in nude mice, and cytogenetic features of RCC96 were investigated. Cell growth curve was detected and the cell number doubling time was 52 h. Karyotype analysis showed that these cells were polyploidy...
February 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28052524/cross-species-analysis-of-the-canine-and-human-bladder-cancer-transcriptome-and-exome
#11
Stephen A Ramsey, Tanjin Xu, Cheri Goodall, Adelaide C Rhodes, Amita Kashyap, Jun He, Shay Bracha
We investigated the correspondence between transcriptome and exome alterations in canine bladder cancer and the correspondence between these alterations and cancer-driving genes and transcriptional alterations in human bladder cancer. We profiled canine bladder tumors using mRNA-seq and exome-seq in order to investigate the similarity of transcriptional alterations in bladder cancer, in humans and canines, at the levels of gene functions, pathways, and cytogenetic regions. We found that the transcriptomes of canine and human bladder cancer are remarkably similar at the functional and pathway levels...
January 3, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28050721/titanium-dioxide-nanoparticles-an-in-vitro-study-of-dna-binding-chromosome-aberration-assay-and-comet-assay
#12
Suhani Patel, Palak Patel, Sonal R Bakshi
Engineered titanium dioxide nanoparticles (TiO2 NPs) are extensively used in cosmetic, pharmaceutical and other industries globally due to their unique properties, which has raised concern for biosafety. Genotoxicity assessment is an important part of biosafety evaluation; we report in vitro cytogenetic assays for NPs considering their unique physicochemical characteristics to fill the gap of laboratory data regarding biological safety along with mechanistic study for mode of interaction of NP with genetic material...
January 3, 2017: Cytotechnology
https://www.readbyqxmd.com/read/28042328/-68-ga-pentixafor-pet-ct-for-imaging-of-chemokine-receptor-cxcr4-expression-in-multiple-myeloma-comparison-to-18-f-fdg-and-laboratory-values
#13
Constantin Lapa, Martin Schreder, Andreas Schirbel, Samuel Samnick, Klaus Martin Kortüm, Ken Herrmann, Saskia Kropf, Herrmann Einsele, Andreas K Buck, Hans-Jürgen Wester, Stefan Knop, Katharina Lückerath
Chemokine (C-X-C motif) receptor 4 (CXCR4) is a key factor for tumor growth and metastasis in several types of human cancer including multiple myeloma (MM). Proof-of-concept of CXCR4-directed radionuclide therapy in MM has recently been reported. This study assessed the diagnostic performance of the CXCR4-directed radiotracer [(68)Ga]Pentixafor in MM and a potential role for stratifying patients to CXCR4-directed therapies. Thirty-five patients with MM underwent [(68)Ga]Pentixafor-PET/CT for evaluation of eligibility for endoradiotherapy...
2017: Theranostics
https://www.readbyqxmd.com/read/28033099/an-alternative-approach-to-studying-the-effects-of-zno-nanoparticles-in-cultured-human-lymphocytes-combining-electrochemistry-and-genotoxicity-tests
#14
Gina Branica, Marin Mladinić, Dario Omanović, Davor Želježić
Nanoparticle use has increased radically raising concern about possible adverse effects in humans. Zinc oxide nanoparticles (ZnO NPs) are among the most common nanomaterials in consumer and medical products. Several studies indicate problems with their safe use. The aim of our study was to see at which levels ZnO NPs start to produce adverse cytogenetic effects in human lymphocytes as an early attempt toward establishing safety limits for ZnO NP exposure in humans. We assessed the genotoxic effects of low ZnO NP concentrations (1...
December 1, 2016: Arhiv za Higijenu Rada i Toksikologiju
https://www.readbyqxmd.com/read/28027549/damage-of-chromosoms-under-irradiation-of-human-blood-lymphocytes-and-development-of-bystander-effect
#15
O V Shemetun
OBJECTIVE: the research the distribution of radiation induced damages among chromosomes and their bands in irra diated in vitro human blood lymphocytes and in unirradiated bystander cells.Material and methods of research: cultivation of human peripheral blood lymphocytes by semi micromethod D.A. Hungerford, modeling of radiation induced bystander effect in mixed cultures consisting of irradiated in vitro and non irradiated blood lymphocytes from persons of different gender, GTG staining of metaphase chromosomes and their cytogenetic analysis...
December 2016: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/28027548/genoprotective-properties-of-astaxanthin-revealed-by-ionizing-radiation-exposure-in-vitro-on-human-peripheral-blood-lymphocytes
#16
M A Pilinska, D A Кurinnyi, S R Rushkovsky, O B Dybska
OBJECTIVE: to identify possible radioprotective properties of astaxanthin by means of cytogenetic criteria. METHODS: Cultivation of peripheral blood lymphocytes from five apparently healthy volunteers; treatment of lym phocytes' cultures by astaxanthin in final concentrations 20 μg/ml in Go phase of mitotic cycle, prior to ? irradia tion in vitro in a dose 1 Gy; cytogenetic analysis the uniformly stained slides of metaphase chromosomes. The elec trophoresis of individual cells (Comet assay); visualization of results under fluorescent microscope; accounting the number of nucleoid the fourth grade that correspond to apoptosis of the cells...
December 2016: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/28003272/cancer-specific-changes-in-dna-methylation-reveal-aberrant-silencing-and-activation-of-enhancers-in-leukemia
#17
Ying Qu, Lee Siggens, Lina Cordeddu, Verena I Gaidzik, Kasper Karlsson, Lars Bullinger, Konstanze Döhner, Karl Ekwall, Sören Lehmann, Andreas Lennartsson
Acute myeloid leukemia (AML) is characterized by an impaired differentiation process leading to an accumulation of immature blasts in the blood. One feature of cytogenetically normal AML is alterations to the DNA methylome. Here we have analyzed 57 AML patients with normal karyotype using Illuminas 450 k array and show that aberrant DNA methylation is significantly altered at enhancer regions and that the methylation levels at specific enhancers predict overall survival of AML patients. The majority of sites that become differentially methylated in AML occur in regulatory elements of the human genome...
December 21, 2016: Blood
https://www.readbyqxmd.com/read/27998191/in-vitro-potential-cytogenetic-and-oxidative-stress-effects-of-roxithromycin
#18
Mehmet Arslan, Taygun Timocin, Hasan B Ila
Macrolide antibiotic roxithromycin was evaluated in terms of its genotoxic, cytotoxic and oxidative stress effects. For this purpose; 25, 50, 100 and 200 μg/mL concentrations of roxithromycin were dissolved in dimethyl sulfoxide and treated to human peripheral blood lymphocytes for two different treatment periods (24 and 48 h). In chromosome aberration (CA) and micronucleus (MN) tests, roxithromycin did not show genotoxic effect. But it induced sister chromatid exchange (SCE) at the highest concentration (200 μg/mL) for the 24-h treatment period and at all concentrations (except 25 μg/mL) for the 48-h treatment period...
December 21, 2016: Drug and Chemical Toxicology
https://www.readbyqxmd.com/read/27995640/genotoxic-risk-of-ethyl-paraben-could-be-related-to-telomere-shortening
#19
F Finot, A Kaddour, L Morat, I Mouche, N Zaguia, C Cuceu, D Souverville, S Négrault, O Cariou, A Essahli, N Prigent, J Saul, F Paillard, L Heidingsfelder, P Lafouge, M Al Jawhari, W M Hempel, M El May, B Colicchio, A Dieterlen, E Jeandidier, L Sabatier, J Clements, R M'Kacher
The ability of parabens to promote the appearance of multiple cancer hallmarks in breast epithelium cells provides grounds for regulatory review of the implication of the presence of parabens in human breast tissue. It is well documented that telomere dysfunction plays a significant role in the initiation of genomic instability during carcinogenesis in human breast cancer. In the present study, we evaluated the genotoxic effect of ethyl 4-hydroxybenzoate (ethyl-paraben), with and without metabolic activation (S9), in studies following OECD guidelines...
December 20, 2016: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/27994187/cytogenetic-analysis-in-couples-with-recurrent-miscarriages-a-retrospective-study-from-punjab-north-india
#20
Neha Sudhir, Tajinder Kaur, Archana Beri, Anupam Kaur
Human reproduction is considered as the most inefficient event as ~15-20% of human pregnancies end in miscarriage and in the product of miscarriages, chromosomal anomalies are a common occurrence. The aim of the present retrospective study was to assess the frequency of chromosomal aberrations in couples with recurrent miscarriages in the region of Punjab and to compare with worldwide frequencies. In this study, a total of 440 cases were referred between the period 1995-2015. After lymphocyte culturing, giemsa-trypsin banding was done for each case to assess the chromosomal anomalies...
December 2016: Journal of Genetics
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