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human cytogenetics

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https://www.readbyqxmd.com/read/28333343/centromere-destiny-in-dicentric-chromosomes-new-insights-from-the-evolution-of-human-chromosome-2-ancestral-centromeric-region
#1
Giorgia Chiatante, Giuliana Giannuzzi, Francesco Maria Calabrese, Evan E Eichler, Mario Ventura
Dicentric chromosomes are products of genomic rearrangements that place two centromeres on the same chromosome. Due to the presence of two primary constrictions, they are inherently unstable and overcome their instability by epigenetically inactivating and/or deleting one of the two centromeres, thus resulting in functionally monocentric chromosomes that segregate normally during cell division. Our understanding to date of dicentric chromosome formation, behavior and fate has been largely inferred from observational studies in plants and humans as well as artificially produced de novo dicentrics in yeast and in human cells...
March 15, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28278505/chromosome-painting-in-callicebus-nigrifrons-provides-insights-into-the-genome-evolution-of-titi-monkeys-and-the-ancestral-callicebinae-karyotype
#2
Naiara Pereira Araújo, Alice Alves do Espírito Santo, Valéria do Socorro Pereira, Roscoe Stanyon, Marta Svartman
We studied the chromosomes of Callicebus nigrifrons with conventional and molecular cytogenetic methods. Our chromosome painting analysis in C. nigrifrons together with previous reports allowed us to hypothesize an ancestral Callicebinae karyotype with 2n = 48. The associations of human chromosomes (HSA) 2/22, 7/15, 10/11, and the inverted HSA2/16 would link Callicebus, Cheracebus, and Plecturocebus and would thus be present in the ancestral Callicebinae karyotype. Four fusions (HSA1b/1c, 3c/8b, 13/20, and 14/15/3/21) and 1 fission (HSA2/22) are synapomorphies of Callicebus...
March 10, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28275329/characterization-of-human-ab-serum-for-mesenchymal-stromal-cell-expansion
#3
Vanessa Tieko Marques Dos Santos, Amanda Mizukami, Maristela Delgado Orellana, Samia Rigotto Caruso, Fernanda Borges da Silva, Fabiola Traina, Karen de Lima Prata, Dimas Tadeu Covas, Kamilla Swiech
BACKGROUND: So far, using human blood-derived components appears to be the most efficient and safest approach available for mesenchymal stromal cell (MSC) expansion. In this paper, we report on the characterization of human AB serum (AB HS) produced by using different plasma sources, and its use as an alternative supplement to MSC expansion. METHODS: Two plasma sources were used for AB HS production: plasma removed from whole blood after 24 h of collection (PC > 24 h) and plasma, cryoprecipitate reduced (PCryoR)...
January 2017: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/28250912/identification-and-preliminary-validation-of-radiation-response-protein-s-in-human-blood-for-a-high-throughput-molecular-biodosimetry-technology-for-the-future
#4
Saibadaiahun Nongrum, S Thangminlal Vaiphei, Joshua Keppen, Mandahakani Ksoo, Ettrika Kashyap, Rajesh N Sharan
The absence of a rapid and high-throughput technology for radiation biodosimetry has been a great obstacle in our full preparedness to cope with large-scale radiological incidents. The existing cytogenetic technologies have limitations, primarily due to their time-consuming methodologies, which include a tissue culture step, and the time required for scoring. This has seriously undermined its application in a mass casualty scenario under radiological emergencies for timely triage and medical interventions. Recent advances in genomics and proteomics in the postgenomic era have opened up new platforms and avenues to discover molecular biomarkers for biodosimetry in the future...
2017: Genome Integrity
https://www.readbyqxmd.com/read/28250910/optimizing-the-microscopy-time-schedule-for-chromosomal-dosimetry-of-high-dose-and-partial-body-irradiations
#5
Volodymyr A Vinnikov
The methodology of cytogenetic triage can be improved by optimizing a schedule of microscopy for different exposure scenarios. Chromosome aberrations were quantified by microscopy in human blood lymphocytes irradiated in vitro to ~2, 4, and 12 Gy acute (60)Co γ-rays mixed with the unirradiated blood simulating 10%, 50%, 90%, and 100% exposure and in along with a sample from a homogeneous exposure to ~20 Gy. Biodosimetry workload was statistically modeled assuming that 0.5, 1, 5, or 25 h was available for scoring one case or for analysis of up to 1000 cells or 100 dicentrics plus centric rings by one operator...
2017: Genome Integrity
https://www.readbyqxmd.com/read/28248636/the-results-of-interconnection-of-the-evidence-of-professional-exposure-to-genotoxic-factors-regex-and-cancer-registry-in-the-czech-republic
#6
Hana Lehocká, Ivona Závacká, Jana Vavrošová, Vladimír Janout
The aim of this study is to analyze the genotoxic risks in the Moravian-Silesian Region in the Czech Republic and assess the significance of genotoxic factors in the etiology of cancer by bringing together the Registry of Occupational Exposure to Genotoxic Factors and the Cancer Registry and compare the rate of detected cancer in persons exposed to genotoxic factors via their work in the Moravian-Silesian Region with the occurrence of cancer in the population of the Czech Republic. The results show: (a) For the monitored group (748 person) for the period 1996-2008, according to gender, was no statistically significant difference in the incidence of oncological diseases compared to the population of the Czech Republic...
March 1, 2017: Reviews on Environmental Health
https://www.readbyqxmd.com/read/28247607/-assessment-of-hematopoiesis-and-cytogenetics-changes-in-interventional-radiologists
#7
Qihong Zhou, Huijuan Yu, Fengyun Fu, Haipeng Ye
Objective: To investigate hematopoiesis and cytogenetics changes in staff of interventional radiology. Methods: A total of 121 intervention radiation workers, 245 common radiation workers and 100 medical personnel (healthy control) without exposure to radiation were enrolled in the study. The peripheral lymphocyte chromosomal aberrations and micronucleus were detected, and the result of white blood cells examination was analyzed. Results: Compared with common radiation group and healthy control group, decreases in white blood cells count, neutrophil ratio, and increase in lymphocyte ratio were observed in intervention radiation group (all P<0...
May 25, 2016: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28245383/-effect-of-ifn-%C3%AE-on-cytokines-in-serum-of-patients-with-chronic-myeloid-leukemia
#8
Yi Wu, Zhi Cheng, Lin Shi, Lei Feng, Ying-Me Li, Dian-Liang Lyu
OBJECTIVE: To investigate the effect of IFN-α on cytokines in serum of patients with chronic myeloid leukemia(CML). METHODS: Fifty patients with CML from March 2012 to December 2015 in our hospital were randomly divided into routine treatment group (n=25) and combined treatment group (n=25), 30 healthy persons were selected as control (control group). The CML patients in routine treatment group were given orally hydroxyurea, the CML patients in combined treatment group were treated with recombinant human interferon α2b injection based on routine treatment (hydroxyurea plus IFN-α group)...
February 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28239418/-classical-cytogenetics-is-not-equal-to-banding-cytogenetics
#9
Thomas Liehr
BACKGROUND: Human cytogenetics is a field suffering from the argumentation that it 'is nowadays really outdated and to be replaced by molecular high throughput approaches'. Thus, it is to be expected that non-cytogeneticists do mistakes in nomenclature of cytogenetics, which is exposed to repeated reforms, like e.g. recently the now hardly manageable and readable nomenclature for array-comparative genomic hybridization. RESULTS: An unexpected nomenclature problem becomes more and more obvious in human cytogenetics - it seems to become difficult to understand how and when to use the designations "classical cytogenetics" or "banding cytogenetics"...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28236065/glioblastoma-spheroids-produce-infiltrative-gliomas-in-the-rat-brainstem
#10
Zhiping Zhou, Neal Luther, Ranjodh Singh, John A Boockvar, Mark M Souweidane, Jeffrey P Greenfield
PURPOSE: Diffuse intrinsic pontine glioma (DIPG) is universally fatal without proven therapy other than radiation therapy for palliation. Representative animal models will play an essential role in the preclinical stage of future therapy development. To address the shortage of representative models, we created a novel infiltrative brainstem glioma model in rats based on glioblastoma spheroids. METHODS: Cells dissociated from glioblastoma spheroids grown from surgical specimens were implanted into the brainstem of NIH nude rats...
February 24, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28230828/chromosomal-mutagenesis-in-human-somatic-cells-30-year-cytogenetic-monitoring-after-chornobyl-accident
#11
M A Pilinska, G M Shemetun, O V Shemetun, S S Dybsky, O B Dybska, O O Talan, L R Pedan, D А Kurinnyi
In the lecture we have generalized and analyzed the data of cytogenetic laboratory of National Research Center for Radiation Medicine of the National Academy of Medical Sciences of Ukraine on 30-year selective cytogenetic monitoring among the priority contingents of different ages exposed to radiation after Chornobyl accident in Ukraine. It is highlighted that not only targeted but also untargeted radiation-induced cytogenetic effects should be explored, especially in delayed terms following radiation exposure...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28230827/astaxanthin-modifies-clastogenic-effects-of-ionizing-radiation-in-vitro-in-peripheral-blood-lymphocytes-of-the-persons-recovered-from-acute-radiation-sickness
#12
D А Kurinnyi, S R Rushkovsky, O B Dybska, G V Dubrovina, M А Pilinska
AIM: To assess radioprotective activity of astaxanthin toward radiation-induced in vitro cytogenetic effects in human peripheral blood lymphocytes (PBL). MATERIALS AND METHODS: PBL from the cleanup workers exposed to ionizing radiation at high doses in 1986 during accident on Chornobyl nuclear power plant and who were diagnosed with acute radiation sickness of the first and second degrees, were cultured in vitro. Astaxanthin was added into the culture medium at a final concentration of 20...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28217965/copy-number-variations-in-testicular-maturation-arrest
#13
A Halder, P Kumar, M Jain, V K Iyer
Testicular maturation arrest is characterized by interruption of germ cell development and differentiation. Genetic factors play important role in the causation of human disease, including male infertility. The objective was to study copy number variations in testicular maturation arrest using single nucleotide polymorphism (SNP) microarray technique. Conventional cytogenetics, targeted fluorescence in situ hybridization (FISH) and sequence-tagged site (STS) polymerase chain reaction (PCR) were used to confirm some of the SNP microarray findings...
February 19, 2017: Andrology
https://www.readbyqxmd.com/read/28191805/ring-chromosome-may-signal-progression-of-fanconi-anemia
#14
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
#15
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
#16
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
#17
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
#18
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...
March 2, 2017: Nature
https://www.readbyqxmd.com/read/28159737/stem-and-progenitor-cell-alterations-in-myelodysplastic-syndromes
#19
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
#20
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
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