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Sample records for automated cytogenetic biodosimetry

  1. Cytogenetic biodosimetry using the blood lymphocytes of astronauts

    Science.gov (United States)

    George, Kerry A.; Rhone, Jordan; Chappell, Lori J.; Cucinotta, Francis A.

    2013-11-01

    Cytogenetic analysis of peripheral blood lymphocytes is the most sensitive and reliable method currently available for in vivo assessment of the biological effects of exposure to radiation and provides the most informative measurement of radiation induced health risks. Data indicates that space missions of a few months or more can induce measureable increases in the yield of chromosome damage in the blood lymphocytes of astronauts that can be used to estimate an organ dose equivalent, and biodosimetry estimates lie within the range expected from physical dosimetry. Space biodosimetry poses some unique challenges compared to terrestrial biological assessments of radiation exposures, but data provides a direct measurement of space radiation damage, which takes into account individual radiosensitivity in the presence of confounding factors such as microgravity and other stress conditions. Moreover if chromosome damage persists in the blood for many years, results can be used for retrospective dose reconstruction. In contrast to physical measurements, which are external to body and require multiple devices to detect all radiation types all of which have poor sensitivity to neutrons, biodosimetry is internal and includes the effects of shielding provided by the body itself plus chromosome damage shows excellent sensitivity to protons, heavy ions, and neutrons. In addition, chromosome damage is reflective of cancer risk and biodosimetry values can therefore be used to validate and develop risk assessment models that can be used to characterize health risk incurred by crewmembers. The current paper presents a review of astronaut biodosimetry data, along with recently derived data on the relative cancer risk estimated using the quantitative approach derived from the European Study Group on Cytogenetic Biomarkers and Health database.

  2. Current status, new frontiers and challenges in radiation biodosimetry using cytogenetic, transcriptomic and proteomic technologies

    Energy Technology Data Exchange (ETDEWEB)

    Fenech, Michael, E-mail: michael.fenech@csiro.au [Commonwealth Scientific and Industrial Research Organisation, Gate 13 Kintore Avenue, Adelaide, SA 5000 (Australia)

    2011-09-15

    Biodosimetric methods for determining exposure dose in individuals following a radiation accident are important for the health management of the exposed cohort and prioritisation of high dose exposure cases to receive emergency medical treatment. This brief review provides a succinct outline of (i) the current status of standard cytogenetic methods used in radiation biodosimetry; (ii) development of high-throughput systems for current standard cytogenetic methods; (iii) emerging minimally invasive methods; (iv) the impact of nutrition and genotype on observed dose-response relationships and (v) new frontiers in biodosimetry using molecular biology techniques such as transcriptomics and proteomics.

  3. Unmet needs in automated cytogenetics

    International Nuclear Information System (INIS)

    Bender, M.A.

    1976-01-01

    Though some, at least, of the goals of automation systems for analysis of clinical cytogenetic material seem either at hand, like automatic metaphase finding, or at least likely to be met in the near future, like operator-assisted semi-automatic analysis of banded metaphase spreads, important areas of cytogenetic analsis, most importantly the determination of chromosomal aberration frequencies in populations of cells or in samples of cells from people exposed to environmental mutagens, await practical methods of automation. Important as are the clinical diagnostic applications, it is apparent that increasing concern over the clastogenic effects of the multitude of potentially clastogenic chemical and physical agents to which human populations are being increasingly exposed, and the resulting emergence of extensive cytogenetic testing protocols, makes the development of automation not only economically feasible but almost mandatory. The nature of the problems involved, and acutal of possible approaches to their solution, are discussed

  4. Cytogenetic bio-dosimetry of an accidental exposure of a radiological worker using multiple assays

    International Nuclear Information System (INIS)

    Thierens, H.; De Ruyck, K.; Vral, A.; De Gelder, V.; Whitehouse, C. A.; Tawn, E. J.; Boesman, I.

    2005-01-01

    A technician involved in the maintenance of X-ray equipment visited the occupational medicine service with complaints of skin lesions, apparently caused by an accidental exposure three months earlier. To estimate the dose received by the technician in the accident, bio-dosimetry was performed 6 and 18 months post-exposure with the dicentric and micronucleus assays. Part of the latest blood sample was also used for retrospective dosimetry by fluorescence in situ hybridisation (FISH) analysis for translocations. The data obtained 6 and 18 months post-exposure indicate that both dicentrics and micronuclei disappear with a half-time of 1 y. After correction for delayed blood sampling, dose values of 0.75 Gy (95% confidence limits 0.56-1.05 Gy) from dicentrics and 0.96 Gy (95% confidence limits 0.79-1.18 Gy) from micronuclei were obtained. FISH analysis of translocations resulted in a dose estimate of 0.79 Gy (95% confidence limits 0.61-0.99 Gy). The satisfactory agreement between the three cytogenetic endpoints supports the use of the micronucleus assay for triage purposes in the case of large scale radiological accidents and provides further evidence for the valid use of FISH for translocations as a reliable retrospective biological dosimeter. (authors)

  5. Role of cytogenetic biodosimetry in meeting the needs of a mass casualty radiological/nuclear event

    International Nuclear Information System (INIS)

    Balajee, A.S.; Dainiak, N.

    2016-01-01

    Radiological/nuclear (R/N) terrorism constitutes a potential threat to all nations that can result in significant morbidity and mortality among hundreds of thousands individuals. In addition to the timing and severity of clinical signs and symptoms, individual radiation dose informs risk assessment and mitigation of radiation-associated injuries. The 'gold standard' for individual whole-body radiation dosimetry is the dicentric chromosome assay. The Cytogenetics Biodosimetry Laboratory at REAC/TS is a WHO Collaborating Centre and member of IAEA's RANET that employs DCA, as well as fluorescence in situ hybridization, premature chromosome condensation, and micronuclei assays to assess radiation dose. The quality of dose estimates and standard operating procedures for DCA at REAC/TS have been validated in multiple inter-comparison studies involving CBLs in Asia, Europe, North America and South America. DCA is scalable to meet the needs of a mass casualty R/N incident. The CBL at REAC/TS has made seminal contributions to augment surge capacity for DCA and develop CBLs worldwide through initiatives such as modification of 'Share Point' in 2010 to transmit images of metaphases for simultaneous telescoring; (2) development of an on-line training program for metaphase scoring; (3) proactive participation as a WCC to create ISO standards; and (4) guidance of regulatory agencies to monitor quality of results and SOPs. The precision of dose estimates by DCA can be vastly improved by using a universal calibration curve. With this view, REAC/TS has organized a collaboration with CBLs at Health Canada and Yale University to construct and validate a common calibration curve for gamma rays

  6. The RABiT: a rapid automated biodosimetry tool for radiological triage. II. Technological developments.

    Science.gov (United States)

    Garty, Guy; Chen, Youhua; Turner, Helen C; Zhang, Jian; Lyulko, Oleksandra V; Bertucci, Antonella; Xu, Yanping; Wang, Hongliang; Simaan, Nabil; Randers-Pehrson, Gerhard; Lawrence Yao, Y; Brenner, David J

    2011-08-01

    Over the past five years the Center for Minimally Invasive Radiation Biodosimetry at Columbia University has developed the Rapid Automated Biodosimetry Tool (RABiT), a completely automated, ultra-high throughput biodosimetry workstation. This paper describes recent upgrades and reliability testing of the RABiT. The RABiT analyses fingerstick-derived blood samples to estimate past radiation exposure or to identify individuals exposed above or below a cut-off dose. Through automated robotics, lymphocytes are extracted from fingerstick blood samples into filter-bottomed multi-well plates. Depending on the time since exposure, the RABiT scores either micronuclei or phosphorylation of the histone H2AX, in an automated robotic system, using filter-bottomed multi-well plates. Following lymphocyte culturing, fixation and staining, the filter bottoms are removed from the multi-well plates and sealed prior to automated high-speed imaging. Image analysis is performed online using dedicated image processing hardware. Both the sealed filters and the images are archived. We have developed a new robotic system for lymphocyte processing, making use of an upgraded laser power and parallel processing of four capillaries at once. This system has allowed acceleration of lymphocyte isolation, the main bottleneck of the RABiT operation, from 12 to 2 sec/sample. Reliability tests have been performed on all robotic subsystems. Parallel handling of multiple samples through the use of dedicated, purpose-built, robotics and high speed imaging allows analysis of up to 30,000 samples per day.

  7. Review of bayesian statistical analysis methods for cytogenetic radiation biodosimetry, with a practical example

    International Nuclear Information System (INIS)

    Ainsbury, Elizabeth A.; Lloyd, David C.; Rothkamm, Kai; Vinnikov, Volodymyr A.; Maznyk, Nataliya A.; Puig, Pedro; Higueras, Manuel

    2014-01-01

    Classical methods of assessing the uncertainty associated with radiation doses estimated using cytogenetic techniques are now extremely well defined. However, several authors have suggested that a Bayesian approach to uncertainty estimation may be more suitable for cytogenetic data, which are inherently stochastic in nature. The Bayesian analysis framework focuses on identification of probability distributions (for yield of aberrations or estimated dose), which also means that uncertainty is an intrinsic part of the analysis, rather than an 'afterthought'. In this paper Bayesian, as well as some more advanced classical, data analysis methods for radiation cytogenetics are reviewed that have been proposed in the literature. A practical overview of Bayesian cytogenetic dose estimation is also presented, with worked examples from the literature. (authors)

  8. Cytogenetic biodosimetry and dose-rate effect after radioiodine therapy for thyroid cancer

    Energy Technology Data Exchange (ETDEWEB)

    Khvostunov, Igor K. [Russian Ministry of Health Care, A.F. Tsyb Medical Radiological Research Center, Branch of the National Medical Research Radiological Centre, Obninsk, Kaluga Region (Russian Federation); Nagasaki University, Department of Radiation Molecular Epidemiology, Atomic Bomb Disease Institute, Nagasaki (Japan); Saenko, Vladimir A.; Yamashita, Shunichi [Nagasaki University, Department of Radiation Molecular Epidemiology, Atomic Bomb Disease Institute, Nagasaki (Japan); Krylov, Valeri; Rodichev, Andrei [Russian Ministry of Health Care, A.F. Tsyb Medical Radiological Research Center, Branch of the National Medical Research Radiological Centre, Obninsk, Kaluga Region (Russian Federation)

    2017-08-15

    This study set out to investigate chromosomal damage in peripheral blood lymphocytes of thyroid cancer patients receiving {sup 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 {sup 131}I. Both conventional cytogenetic and chromosome 2, 4 and 12 painting assays were used. To account for dose-rate effect, a dose-protraction factor was applied to calculate the whole-body dose. The mean dose was 0.62 Gy (95% CI: 0.44-0.77 Gy) in the subgroup of patients treated one time and 0.67 Gy (95% CI: 0.03-1.00 Gy) in re-treated patients. These dose estimates are about 1.7-fold higher than those disregarding the effect of exposure duration. In re-treated patients, the neglected dose-rate effect can result in underestimation of the cumulative whole-body dose by the factor ranging from 2.6 to 6.8. Elevated frequency of chromosomal aberrations observed in re-treated patients before radioiodine therapy allows estimation of a cumulative dose received from all previous treatments. (orig.)

  9. Expedited Radiation Biodosimetry by Automated Dicentric Chromosome Identification (ADCI) and Dose Estimation.

    Science.gov (United States)

    Shirley, Ben; Li, Yanxin; Knoll, Joan H M; Rogan, Peter K

    2017-09-04

    Biological radiation dose can be estimated from dicentric chromosome frequencies in metaphase cells. Performing these cytogenetic dicentric chromosome assays is traditionally a manual, labor-intensive process not well suited to handle the volume of samples which may require examination in the wake of a mass casualty event. Automated Dicentric Chromosome Identifier and Dose Estimator (ADCI) software automates this process by examining sets of metaphase images using machine learning-based image processing techniques. The software selects appropriate images for analysis by removing unsuitable images, classifies each object as either a centromere-containing chromosome or non-chromosome, further distinguishes chromosomes as monocentric chromosomes (MCs) or dicentric chromosomes (DCs), determines DC frequency within a sample, and estimates biological radiation dose by comparing sample DC frequency with calibration curves computed using calibration samples. This protocol describes the usage of ADCI software. Typically, both calibration (known dose) and test (unknown dose) sets of metaphase images are imported to perform accurate dose estimation. Optimal images for analysis can be found automatically using preset image filters or can also be filtered through manual inspection. The software processes images within each sample and DC frequencies are computed at different levels of stringency for calling DCs, using a machine learning approach. Linear-quadratic calibration curves are generated based on DC frequencies in calibration samples exposed to known physical doses. Doses of test samples exposed to uncertain radiation levels are estimated from their DC frequencies using these calibration curves. Reports can be generated upon request and provide summary of results of one or more samples, of one or more calibration curves, or of dose estimation.

  10. High-throughput microfluidics automated cytogenetic processing for effectively lowering biological process time and aid triage during radiation accidents

    International Nuclear Information System (INIS)

    Ramakumar, Adarsh

    2016-01-01

    Nuclear or radiation mass casualties require individual, rapid, and accurate dose-based triage of exposed subjects for cytokine therapy and supportive care, to save life. Radiation mass casualties will demand high-throughput individual diagnostic dose assessment for medical management of exposed subjects. Cytogenetic techniques are widely used for triage and definitive radiation biodosimetry. Prototype platform to demonstrate high-throughput microfluidic micro incubation to support the logistics of sample in miniaturized incubators from the site of accident to analytical labs has been developed. Efforts have been made, both at the level of developing concepts and advanced system for higher throughput in processing the samples and also implementing better and efficient methods of logistics leading to performance of lab-on-chip analyses. Automated high-throughput platform with automated feature extraction, storage, cross platform data linkage, cross platform validation and inclusion of multi-parametric biomarker approaches will provide the first generation high-throughput platform systems for effective medical management, particularly during radiation mass casualty events

  11. Automation of the dicentric chromosome assay and related assays

    International Nuclear Information System (INIS)

    Balajee, Adayabalam S.; Dainiak, Nicholas

    2016-01-01

    Dicentric Chromosome Assay (DCA) is considered to be the 'gold standard' for personalized dose assessment in humans after accidental or incidental radiation exposure. Although this technique is superior to other cytogenetic assays in terms of specificity and sensitivity, its potential application to radiation mass casualty scenarios is highly restricted because DCA is time consuming and labor intensive when performed manually. Therefore, it is imperative to develop high throughput automation techniques to make DCA suitable for radiological triage scenarios. At the Cytogenetic Biodosimetry Laboratory in Oak Ridge, efforts are underway to develop high throughput automation of DCA. Current status on development of various automated cytogenetic techniques in meeting the biodosimetry needs of radiological/nuclear incident(s) will be discussed

  12. Standardization of biodosimetry operations

    International Nuclear Information System (INIS)

    Dainiak, Nicholas

    2016-01-01

    Methods and procedures for generating, interpreting and scoring the frequency of dicentric chromosomes vary among cytogenetic biodosimetry laboratories (CBLs). This variation adds to the already considerable lack of precision inherent in the dicentric chromosome assay (DCA). Although variability in sample collection, cell preparation, equipment and dicentric frequency scoring can never be eliminated with certainty, it can be substantially minimized, resulting in reduced scatter and improved precision. Use of standard operating procedures and technician exchange may help to mitigate variation. Although the development and adoption of international standards (ISO 21243 and ISO 19238) has helped to reduce variation in standard operating procedures (SOPs), all CBLs must maintain process improvement, and those with challenges may require additional assistance. Sources of variation that may not be readily apparent in the SOPs for sample collection and processing include variability in ambient laboratory conditions, media, serum lot and quantity and the use of particular combinations of cytokines. Variability in maintenance and calibration of metafer equipment, and in scoring criteria, reader proficiency and personal factors may need to be addressed. The calibration curve itself is a source of variation that requires control, using the same known-dose samples among CBLs, measurement of central tendency, and generation of common curves with periodic reassessment to detect drifts in dicentric yield. Finally, the dose estimate should be based on common scoring criteria, using of the z-statistic. Although theoretically possible, it is practically impossible to propagate uncertainty over the entire calibration curve due to the many factors contributing to variance. Periodic re-evaluation of the curve is needed by comparison with newly published curves (using statistical analysis of differences) and determining their potential causes. (author)

  13. Enhancing radiation biodosimetry capability

    International Nuclear Information System (INIS)

    Alok, A.; Kumar, A.; Kulshrestra, S.; Choudhary, S.; Bhagi, S.; Adhikari, J.S.; Chaudhury, N.K.

    2016-01-01

    Biodosimetry laboratories are necessary for quick and accurate assessment of absorbed radiation dose in suspected individuals for their medical management. The method is based on dicentric chromosomal assay (Gold standard). This assay is completely manual and time consuming, require skill and competency of laboratory staff. There is a necessity of more biodosimetry labs within country and networking within and at international level for enhancing medical preparedness for management of radiation emergency

  14. Recent developments in biodosimetry

    International Nuclear Information System (INIS)

    Trivedi, A.; Greenstock, C.L.

    1995-08-01

    This report reviews recent developments in biodosimetry (1989-1993), and presents a comparative study of the existing techniques and their future prospects. The report summarizes the sensitivity, reproducibility, limiting dose, dose-rate, energy, linear energy transfer (LET) responses, sources of variability and uncertainty, and other practical aspects of each bio-indicator. The strengths and weaknesses of each approach are evaluated on the basis of a set of common criteria for particular applications. (author). 155 refs., 15 tabs

  15. Building Connecticut's clinical biodosimetry laboratory surge capacity to mitigate the health consequences of radiological and nuclear disasters: A collaborative approach between the state biodosimetry laboratory and Connecticut's medical infrastructure

    International Nuclear Information System (INIS)

    Albanese, Joseph; Martens, Kelly; Arnold, Jeffrey L.; Kelley, Katherine; Kristie, Virginia; Forte, Elaine; Schneider, Mark; Dainiak, Nicholas

    2007-01-01

    further optimize biodosimetry specimen processing protocols in Connecticut. Based on our findings, we conclude that clinical laboratory professionals are an important resource for assisting with the processing biodosimetry specimens that are used for triage of patients from accidental or terrorist-related mass-casualty radiological or nuclear catastrophies. The approach described in this paper to enroll and train clinical laboratorians in sample preparation for dicentric analysis forms the basis for the next step (namely, further training on harvesting cultured cells and preparing cytogenetic slides) in collaborative efforts between the State of Connecticut's Biodosimetry Laboratory and the state's medical infrastructure towards building laboratory surge capacity to estimate radiation dose in victims of a mass casualty event

  16. Role of dicentric analysis in an overarching biodosimetry strategy for use following a nuclear detonation in an urban environment.

    Science.gov (United States)

    Blumenthal, Daniel J; Sugarman, Stephen L; Christensen, Doran M; Wiley, Albert L; Livingston, Gordon K; Glassman, Erik S; Koerner, John F; Sullivan, Julie M; Hinds, Sidney

    2014-04-01

    In the moments immediately following a nuclear detonation, casualties with a variety of injuries including trauma, burns, radiation exposure, and combined injuries would require immediate assistance. Accurate and timely radiation dose assessments, based on patient history and laboratory testing, are absolutely critical to support adequately the triage and treatment of those affected. This capability is also essential for ensuring the proper allocation of scarce resources and will support longitudinal evaluation of radiation-exposed individuals and populations. To maximize saving lives, casualties must be systematically triaged to determine what medical interventions are needed, the nature of those interventions, and who requires intervention immediately. In the National Strategy for Improving the Response and Recovery for an Improvised Nuclear Device (IND) Attack, the U.S. Department of Homeland Security recognized laboratory capacity for radiation biodosimetry as having a significant gap for performing mass radiation dose assessment. The anticipated demand for radiation biodosimetry exceeds its supply, and this gap is partly linked to the limited number and analytical complexity of laboratory methods for determining radiation doses within patients. The dicentric assay is a key component of a cytogenetic biodosimetry response asset, as it has the necessary sensitivity and specificity for assessing medically significant radiation doses. To address these shortfalls, the authors have developed a multimodal strategy to expand dicentric assay capacity. This strategy includes the development of an internet-based cytogenetics network that would address immediately the labor intensive burden of the dicentric chromosome assay by increasing the number of skilled personnel to conduct the analysis. An additional option that will require more time includes improving surge capabilities by combining resources available within the country's 150 clinical cytogenetics laboratories

  17. Automated scoring of lymphocyte micronuclei by the MetaSystems Metafer image cytometry system and its application in studies of human mutagen sensitivity and biodosimetry of genotoxin exposure

    Czech Academy of Sciences Publication Activity Database

    Rössnerová, Andrea; Špátová, Milada; Schunck, CH.; Šrám, Radim

    2011-01-01

    Roč. 26, č. 1 (2011), s. 169-175 ISSN 0267-8357 R&D Projects: GA MŽP(CZ) SP/1B3/8/08; GA AV ČR 1QS500390506 Institutional research plan: CEZ:AV0Z50390512 Keywords : automated micronucleus assay * environmental exposure * Metasystems Metafer image cytometry system Subject RIV: DN - Health Impact of the Environment Quality Impact factor: 3.183, year: 2011

  18. A new inverse regression model applied to radiation biodosimetry

    Science.gov (United States)

    Higueras, Manuel; Puig, Pedro; Ainsbury, Elizabeth A.; Rothkamm, Kai

    2015-01-01

    Biological dosimetry based on chromosome aberration scoring in peripheral blood lymphocytes enables timely assessment of the ionizing radiation dose absorbed by an individual. Here, new Bayesian-type count data inverse regression methods are introduced for situations where responses are Poisson or two-parameter compound Poisson distributed. Our Poisson models are calculated in a closed form, by means of Hermite and negative binomial (NB) distributions. For compound Poisson responses, complete and simplified models are provided. The simplified models are also expressible in a closed form and involve the use of compound Hermite and compound NB distributions. Three examples of applications are given that demonstrate the usefulness of these methodologies in cytogenetic radiation biodosimetry and in radiotherapy. We provide R and SAS codes which reproduce these examples. PMID:25663804

  19. Biodosimetry for the assessment of radiation exposure

    Energy Technology Data Exchange (ETDEWEB)

    Aoki, Yoshiro [Tokyo Univ. (Japan). Faculty of Medicine

    1994-08-01

    Biodosimetry, in which exposure doses are estimated using biological samples such as blood, urine and teeth, is important not only in determining the optimum treatment strategy but also in screening patients requiring emergency care in the setting of radiological accident. This article discusses biodosimetry at the time of whole-body exposure and local exposure, together with its usage in actual radiological accidents. Dosimetry at the whole-body exposure is described in terms of the following approaches: (1) changes in blood samples, (2) chromosomal aberration, (3) the frequency of somatic mutation, chromosomal aberration of human spermatozoon, biochemical analysis, electroencephalographic abnormalities, and spin echo resonance. Biodosimetry at the time of local exposure is mentioned in relation to skin exposure. Finally, biodosimetry used in actual radiological accidents of Chernobyl, Goiania, and San Salvador is referred to. (N.K.).

  20. Advanced microtechnologies for cytogenetic analysis

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Vedarethinam, Indumathi; Shah, Pranjul Jaykumar

    2012-01-01

    Cytogenetic and molecular cytogenetic analyses, which aim to detect chromosome abnormalities, are routinely performed in cytogenetic laboratories all over the world. Traditional cytogenetic studies are performed by analyzing the banding pattern of chromosomes, and are complemented by molecular...... cytogenetic techniques such as fluorescent in situ hybridization (FISH). To improve FISH application in cytogenetic analysis the issues with long experimental time, high volumes of expensive reagents and requirement for trained technicians need to be addressed. The protocol has recently evolved towards...... to introduce automation in the cytogenetic laboratories at a microscale. We have developed membrane based micro perfusion systems capable of expansion of lymphocytes in a shorter time and at a smaller scale. The simulated and experimental results show very efficient exchange of the growth medium...

  1. Lymphoma cytogenetics.

    Science.gov (United States)

    Dave, Bhavana J; Nelson, Marilu; Sanger, Warren G

    2011-12-01

    Lymphomas are a heterogeneous group of neoplasms with distinct morphologic, immunologic, and cytogenetic characteristics. Overlapping morphologic and immunophenotypic features often makes accurate diagnosis difficult. Cytogenetics helps simplify the diagnostic complexities presented in transforming and progressive lymphoid malignancies. Genetic studies using technical advances such as fluorescence in situ hybridization and the newer approaches of array comparative genomic hybridization and gene expression profiling play a critical and often defining role in the diagnosis, progression, prognosis, and therapeutic stratification. This article reviews characteristic cytogenetic abnormalities in specific subtypes of lymphomas at diagnosis, disease progression, and prognosis.

  2. Application of blood cell count and retrospective biodosimetry for health protection in industrial radiographers

    Energy Technology Data Exchange (ETDEWEB)

    Jang, Seong Jae; Kim, Seung Hyun; Yang, Soo San; Cho, Min Su; Lee, Jin Kyung; Jin, Young Woo [Korea Institute of Radiological and Medical Sciences, Seoul (Korea, Republic of)

    2017-04-15

    Industrial radiography is known to be one of the most vulnerable lines of work among the range of different radiation work. According to the relevant law in Korea, every worker registered in this work should check their blood cell counts every year in addition to their thermoluminescent dosimeter (TLD) doses. Cytogenetic dosimetry has been employed for several decades as a method for estimating the dose of ionizing radiation (IR) received by an individual. In cases of recent acute exposure, the most reliable method is to score dicentric chromosomes in solid-stained metaphase cells. Dicentric aberrations are unstable because their frequency decrease with time after IR exposure. The purpose of the present study was to review the effectiveness of the current regulation that requires all registered radiation workers to check their blood counts every year in order to screen for exposed workers. In addition, the clinical usefulness of cytogenetic dosimetry as a retrospective tool for dose estimation has been evaluated. From this study, we hope to make practical recommendations for improving the current radiation protection regulation. We ascertain that reviewing consecutive results of blood cell counts and retrospective biodosimetry are useful complementary tools to TLD doses for health protection regulation. Several confounding factors including work duration and previous medical history need to be considered for the interpretation of cytogenetic dosimetry results.

  3. Application of blood cell count and retrospective biodosimetry for health protection in industrial radiographers

    International Nuclear Information System (INIS)

    Jang, Seong Jae; Kim, Seung Hyun; Yang, Soo San; Cho, Min Su; Lee, Jin Kyung; Jin, Young Woo

    2017-01-01

    Industrial radiography is known to be one of the most vulnerable lines of work among the range of different radiation work. According to the relevant law in Korea, every worker registered in this work should check their blood cell counts every year in addition to their thermoluminescent dosimeter (TLD) doses. Cytogenetic dosimetry has been employed for several decades as a method for estimating the dose of ionizing radiation (IR) received by an individual. In cases of recent acute exposure, the most reliable method is to score dicentric chromosomes in solid-stained metaphase cells. Dicentric aberrations are unstable because their frequency decrease with time after IR exposure. The purpose of the present study was to review the effectiveness of the current regulation that requires all registered radiation workers to check their blood counts every year in order to screen for exposed workers. In addition, the clinical usefulness of cytogenetic dosimetry as a retrospective tool for dose estimation has been evaluated. From this study, we hope to make practical recommendations for improving the current radiation protection regulation. We ascertain that reviewing consecutive results of blood cell counts and retrospective biodosimetry are useful complementary tools to TLD doses for health protection regulation. Several confounding factors including work duration and previous medical history need to be considered for the interpretation of cytogenetic dosimetry results.

  4. Onion root tip cell system for biodosimetry?

    International Nuclear Information System (INIS)

    Paradiz, J; Druskovic, B.; Lovka, M.; Skrk, J.

    1996-01-01

    Methodology for radiation dose assessment based on chromosomal damage to plant cells has no yet been established, although root meristems have been the pioneer cytogenetic materials and profound analyses of irradiated meristematic cells of horse bean (Viciafaba L.) had been performed. Onion (Allium cepa L.) root tips frequently used for radiation cytogenetic studies, are recently considered to be one of the most promising plant test system for the detection of genotoxic environmental pollutants. We studied the possibility of using cytogenetic analyses of irradiated onion cells to determine the effective biological dose of ionizing radiation. The dose-effect relationships for chromosomal damages to onion meristematic cells were established after plants had been irradiated and subsequently grown in both laboratory and field conditions

  5. Techniques for induction of premature chromosome condensation (PCC) by Calyculin-A and micronucleus assay for biodosimetry in Vietnam

    International Nuclear Information System (INIS)

    Pham Ngoc Duy; Tran Que; Hoang Hung Tien; Bui Thi Kim Luyen; Nguyen Thi Kim Anh; Ha Thi Ngoc Lien

    2014-01-01

    The International Atomic Energy Agency (IAEA) and World Health Organization are interested in biological dosimetry method for radiation emergency medicine currently. Some cytogenetic techniques such as premature chromosome condensation (PCC) induced by Calyculin-A and micronucleus (MN) assay are necessary to develop biodosimetry in Vietnam. In this study, we optimized the condition for MN assay with 6 µg/ml Cytochalasin-B concentration and 72.5 hours for peripheral lymphocyte blood culture. The optimization for PCC method is 50 nM Calyculin-A concentration for 45 minutes peripheral lymphocyte blood treatment. For samples exposed to 3.0 Gy gamma 60 Co (dose rate 0.0916 Gy/s), the frequency of MN is 19.02 ± 0.38%, NBP is 1.95 ± 0.28%, dicentric and ring is 41.43 ± 8.12% and frag and min is 63.33 ± 5.16%. For samples exposed to 6.0 Gy gamma 60 Co (dose rate 0.0916 Gy/s), the frequency of ring-PCC is 17.73 ± 2.46%, extra unite is 218.91± 7.58%, dicentric is 83.81 ± 1.09%, ring is 10.75 ± 1.74%, fragment and minute is 193.17 ± 13.10%. MN and ring-PCC are specific marker applying for biodosimetry. (author)

  6. Cytogenetic techniques for biological indications and dosimetry of of radiation damages in humans

    International Nuclear Information System (INIS)

    Hadjidekova, V.

    2003-01-01

    The cytogenetic methods present a proved way for bio-monitoring and bio-dosimetry for persons, submitted to ionising radiation in occupational and emergency conditions. Their application complement and assist the evaluation of the physical dosimetry and takes in account the individual radiosensitivity of the organism. A comparative assessment is made of the cytogenetic markers for radiation damage of humans applied in Bulgaria. It is discussed the sensitivity of the methods and their development in the last years, as well as the basic concept for their application - the causal relationship between the frequency of the observation of cytogenetic markers in peripheral blood lymphocytes and the risk of oncological disease. The conventional analysis of dicentrics is recognised as a 'golden standard' for the quantitative assessment of the radiation damage. The long term persisting translocations reflect properly the cumulative dose burden from chronic exposure. The micronucleus test allows a quick screening of large groups of persons, working in ionising radiation environment. The combined application with centromeric DNA probe improves the sensitivity and presents a modern alternative of the bio-monitoring and bio-dosimetry. It is discussed the advantages of the different cytogenetic techniques and their optimised application for the assessment of the radiation impact on humans

  7. Cytogenetic analysis for radiation dose assessment. A manual

    International Nuclear Information System (INIS)

    2001-01-01

    Chromosome aberration analysis is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This has been via a sequence of Co-ordinated Research Programmes (CRPs), the running of Regional Training Courses, the sponsorship of individual training fellowships and the provision of necessary equipment to laboratories in developing Member States. The CRP on the 'Use of Chromosome Aberration Analysis in Radiation Protection' was initiated by IAEA in 1982. It ended with the publication of the IAEA Technical Report Series No. 260, titled 'Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment' in 1986. The overall objective of the CRP (1998-2000) on 'Radiation Dosimetry through Biological Indicators' is to review and standardize the available methods and amend the above mentioned previous IAEA publication with current techniques on cytogenetic bioindicators which may be of practical use in biological dosimetry worldwide. An additional objective is to identify promising cytogenetic techniques to provide Member States with up to date and generally agreed advice regarding the best focus for research and suggestions for the most suitable techniques for near future practice in biodosimetry. This activity is in accordance with the International Basic Safety Standards (BSS) published in 1996. To pursue this task the IAEA has conducted a Research Co-ordination Meeting (Budapest, Hungary, June 1998) with the participation of senior scientists of 24 biodosimetry laboratories to discuss

  8. Study of p53 protein expression levels from irradiated peripheral blood lymphocytes for biodosimetry

    Energy Technology Data Exchange (ETDEWEB)

    Cavalcanti, M.B.; Fernandes, T.S. [Universidade Federal de Pernambuco (UFPE), Recife, PE (Brazil). Dept. de Energia Nuclear; Amaral, A. [Universite Paris XII (UPXII) (France); Melo, J.A. [Centro de Radioterapia de Pernambuco (CERAPE), PE (Brazil); Neves, M.A.B.; Machado, C.G.F, E-mail: maribrayner@yahoo.com.br [Fundacao de Hematologia e Hemoterapia de Pernambuco, PE (Brazil)

    2005-07-01

    Biodosimetry can be defined as the investigation of radioinduced biological effects in order to correlate them with the absorbed dose. Scoring of unstable chromosomal aberrations and micronuclei, from in vitro irradiated peripheral blood lymphocytes, is commonly used for biodosimetry based on cytogenetic analysis. However, this method of analysis is time-consuming, which may represent a pitfall when fast investigation of a possible exposure to ionizing radiation (IR) is needed. The interaction of IR with the living cell can cause injuries in the DNA molecules. However, normal cells possess mechanisms of repair that are capable to correct those damages. During the repair process of the DNA various proteins are expressed. Among these proteins, p53 plays an important role. This protein is a transcription factor that helps in the maintenance of the genomic integrity. p53 protein is found into the cytoplasm in reduced concentrations and has a short average life. However, expression of p53 protein can be induced by DNA harmful radioinduced, which increases the concentration and the average life of this protein, making possible its detection. Thus, the correlation between the increasing of p53 expression and the irradiation may constitute a fast and reliable method of individual monitoring in cases of accidental or suspected exposures to IR. In this context, the objective of this research was to evaluate the p53 protein expression levels from lymphocytes of the human peripheral blood after in vitro irradiation. For this, samples of peripheral blood from healthy individuals were irradiated with known doses. Lymphocytes were separated on ficoll gradient by centrifugation and re-suspended at 1x 10{sub 6}/mL in RPMI medium enriched with fetal calf serum. Hence, lymphocytes were incubated in 5% CO{sub 2} at 37 deg C prior to the methodology of flow cytometry, using intranuclear antigens for the quantification of p53. In this report, the methodology performed and the results

  9. Realising the European network of bio-dosimetry (RENEB)

    International Nuclear Information System (INIS)

    Kulka, U.; Ainsbury, L.; Atkinson, M.; Barquinero, J. F.; Barrios, L.; Beinke, C.; Bognar, G.; Cucu, A.; Darroudi, F.; Fattibene, P.; Gil, O.; Gregoire, E.; Hadjidekova, V.; Haghdoost, S.; Herranz, R.; Jaworska, A.; Lindholm, C.; Mkacher, R.; Moertl, S.; Montoro, A.; Moquet, J.; Moreno, M.; Ogbazghi, A.; Oestreicher, U.; Palitti, F.; Pantelias, G.; Popescu, I.; Prieto, M. J.; Romm, H.; Rothkamm, K.; Sabatier, L.; Sommer, S.; Terzoudi, G.; Testa, A.; Thierens, H.; Trompier, F.; Turai, I.; Vandersickel, V.; Vaz, P.; Voisin, P.; Vral, A.; Ugletveit, F.; Woda, C.; Wojcik, A.

    2012-01-01

    In Europe, a network for biological dosimetry has been created to strengthen the emergency preparedness and response capabilities in case of a large-scale nuclear accident or radiological emergency. Through the RENEB (Realising the European Network of bio-dosimetry) project, 23 experienced laboratories from 16 European countries will establish a sustainable network for rapid, comprehensive and standardised bio-dosimetry provision that would be urgently required in an emergency situation on European ground. The foundation of the network is formed by five main pillars: (1) the ad hoc operational basis, (2) a basis of future developments, (3) an effective quality-management system, (4) arrangements to guarantee long-term sustainability and (5) awareness of the existence of RENEB. RENEB will thus provide a mechanism for quick, efficient and reliable support within the European radiation emergency management. The scientific basis of RENEB will concurrently contribute to increased safety in the field of radiation protection. (authors)

  10. Evaluation of the annual Canadian biodosimetry network intercomparisons

    OpenAIRE

    Wilkins, Ruth C.; Beaton-Green, Lindsay A.; Lachapelle, Sylvie; Kutzner, Barbara C.; Ferrarotto, Catherine; Chauhan, Vinita; Marro, Leonora; Livingston, Gordon K.; Boulay Greene, Hillary; Flegal, Farrah N.

    2015-01-01

    Abstract Purpose: To evaluate the importance of annual intercomparisons for maintaining the capacity and capabilities of a well-established biodosimetry network in conjunction with assessing efficient and effective analysis methods for emergency response. Materials and methods: Annual intercomparisons were conducted between laboratories in the Canadian National Biological Dosimetry Response Plan. Intercomparisons were performed over a six-year period and comprised of the shipment of 10–...

  11. Overview of the principles and practice of biodosimetry

    Energy Technology Data Exchange (ETDEWEB)

    Swartz, Harold M.; Williams, Benjamin B.; Flood, Ann Barry [Geisel School of Medicine at Dartmouth, EPR Center for the Study of Viable Systems, Hanover, NH (United States)

    2014-05-15

    The principle of biodosimetry is to utilize changes induced in the individual by ionizing radiation to estimate the dose and, if possible, to predict or reflect the clinically relevant response, i.e., the biological consequences of the dose. Ideally, the changes should be specific for ionizing radiation, and the response should be unaffected by prior medical or physiological variations among subjects, including changes that might be caused by the stress and trauma from a radiation event. There are two basic types of biodosimetry with different and often complementary characteristics: those based on changes in biological parameters such as gene activation or chromosomal abnormalities and those based on physical changes in tissues (detected by techniques such as EPR). In this paper, we consider the applicability of the various techniques for different scenarios: small- and large-scale exposures to levels of radiation that could lead to the acute radiation syndrome and exposures with lower doses that do not need immediate care, but should be followed for evidence of long-term consequences. The development of biodosimetry has been especially stimulated by the needs after a large-scale event where it is essential to have a means to identify those individuals who would benefit from being brought into the medical care system. Analyses of the conventional methods officially recommended for responding to such events indicate that these methods are unlikely to achieve the results needed for timely triage of thousands of victims. Emerging biodosimetric methods can fill this critically important gap. (orig.)

  12. Recent experience in applying the cytogenetic dosimetry assay

    Energy Technology Data Exchange (ETDEWEB)

    Khvostunov, I.K., E-mail: 726727@mrrc.obninsk.ru [Medical Radiological Research Centre, Koroliov Str. 4, Obninsk, Kaluga Region, 249036 (Russian Federation); Sevan' kaev, A.V. [Medical Radiological Research Centre, Koroliov Str. 4, Obninsk, Kaluga Region, 249036 (Russian Federation); Lloyd, D.C. [Health Protection Agency, Centre for Radiation, Chemical and Environmental Hazards, Chilton, Didcot, Oxfordshire (United Kingdom); Nugis, V.Yu. [Burnasyan Federal Medical Biophysical Center of the Federal Medical Biological Agency, Marshala Novikova Str., 23, Moscow (Russian Federation); Voisin, P. [Institute for Radiation Protection and Nuclear Safety, SRBE, B.P. 17, 92262 Fontenay-aux-Roses Cedex (France)

    2011-09-15

    This paper considers how well standard calibration curve for translocations constructed for lymphocyte cultures irradiated in vitro with gamma-rays from {sup 60}Co compares with the translocations yield in lymphocytes taken from people at a long post-exposure time. Data were used from radiation accident victims overexposed to doses ranging from 0.2 to 8.5 Gy and who were cytogenetically followed-up for various times upto 50 y. Their cultured lymphocytes had been scored both by the conventional dicentric method and by FISH for all translocations involving painted chromosomes (2, 3, 8); (2, 3, 5) or (2, 4, 12). The in vivo dose response relationship was derived by fitting translocation frequencies to the contemporary individual doses obtained independently and confirmed by different biological assays and physical dosimetry. A comparison with the conventional in vitro curve indicates reductions of translocation frequencies with increasing time which would prejudice retrospective dose assessment by FISH. This has led to the possibility to amend the in vitro dose response curve for translocations to make it more suitable for use in retrospective biodosimetry. This approach for retrospective biodosimetry therefore uses a dose response relationship based on truly persisting translocations.

  13. Transcription profiling of human peripheral blood to development gene expression signatures for practical radiation biodosimetry

    Data.gov (United States)

    National Aeronautics and Space Administration — To further development of our gene expression approach to biodosimetry we have employed whole genome microarray expression profiling as a discovery platform to...

  14. SU-C-BRD-05: Non-Invasive in Vivo Biodosimetry in Radiotherapy Patients Using Electron Paramagnetic Resonance (EPR) Spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Bahar, N; Roberts, K; Stabile, F; Mongillo, N; Decker, RD; Wilson, LD; Husain, Z; Contessa, J; Carlson, DJ [Yale University School of Medicine, New Haven, Connecticut (United States); Williams, BB; Flood, AB; Swartz, HM [Geisel Medical School at Dartmouth University, Hanover, New Hampshire (United States)

    2015-06-15

    Purpose: Medical intervention following a major, unplanned radiation event can elevate the human whole body exposure LD50 from 3 to 7 Gy. On a large scale, intervention cannot be achieved effectively without accurate and efficient triage. Current methods of retrospective biodosimetry are restricted in capability and applicability; published human data is limited. We aim to further develop, validate, and optimize an automated field-deployable in vivo electron paramagnetic resonance (EPR) instrument that can fill this need. Methods: Ionizing radiation creates highly-stable, carbonate-based free radicals within tooth enamel. Using a process similar to nuclear magnetic resonance, EPR directly measures the presence of radiation-induced free radicals. We performed baseline EPR measurements on one of the upper central incisors of total body irradiation (TBI) and head and neck (H&N) radiotherapy patients before their first treatment. Additional measurements were performed between subsequent fractions to examine the EPR response with increasing radiation dose. Independent dosimetry measurements were performed with optically-stimulated luminescent dosimeters (OSLDs) and diodes to more accurately establish the relationship between EPR signal and delivered radiation dose. Results: 36 EPR measurements were performed over the course of four months on two TBI and four H & N radiotherapy patients. We observe a linear increase in EPR signal with increasing dose across the entirety of the tested range. A linear least squares-weighted fit of delivered dose versus measured signal amplitude yields an adjusted R-square of 0.966. The standard error of inverse prediction (SEIP) is 1.77 Gy. For doses up to 7 Gy, the range most relevant to triage, we calculate an SEIP of 1.29 Gy. Conclusion: EPR spectroscopy provides a promising method of retrospective, non-invasive, in vivo biodosimetry. Our preliminary data show an excellent correlation between predicted signal amplitude and delivered

  15. Inter-laboratory comparison to validate the dicentric assay as a cytogenetic triage tool for medical management of radiation accidents

    Energy Technology Data Exchange (ETDEWEB)

    Beinke, Christina, E-mail: christinabeinke@bundeswehr.org [Bundeswehr Institute of Radiobiology Affiliated to the University of Ulm, Neuherbergstrasse 11, 80937 Munich (Germany); Oestreicher, Ursula [Federal Office for Radiation Protection, Neuherberg (Germany); Riecke, Armin [Department for Internal Medicine, Federal Armed Forces Hospital, Ulm (Germany); Kulka, Ulrike [Federal Office for Radiation Protection, Neuherberg (Germany); Meineke, Viktor [Bundeswehr Institute of Radiobiology Affiliated to the University of Ulm, Neuherbergstrasse 11, 80937 Munich (Germany); Romm, Horst [Federal Office for Radiation Protection, Neuherberg (Germany)

    2011-09-15

    Radiation accidents with exposure of human beings can assume huge dimensions concerning occurring health impairments and essential medical resources such as personnel, patient care management and appropriate medical facilities. Particularly in mass-casualty events, a rapid sorting and allocation of victims to treatment is needed and their classification in medical treatment groups has to be conducted as fast as possible. For triage purposes several approaches can be considered. Clinical signs and symptoms are extremely helpful in estimating radiation effects on an organ-based level, whereas the assessment of radiation effects based on cytogenetic biodosimetry tools is the alternative approach. For both systems there are pros and cons with respect to the usefulness for specific applications, such as individual cases versus mass-casualty screening or whole- versus partial-body exposures. Among the biodosimetry tools the dicentric chromosome assay (DCA) is considered as the 'gold standard' for biodosimetry after an acute radiation exposure. Recently, steady progress in standardization and harmonization of the DCA has occurred, in order to enable the validated performance of the DCA in the frame of cooperative response of biodosimetry networks during a large scale radiological scenario. Using the DCA in triage mode which allows the stratification of radiation exposed victims into broad 1.0 Gy categories only 20-50 metaphase cells per subject are scored instead of the 500-1000 scored for routine analysis. Our data show that there are significant differences between the dicentric yields after 1.0 Gy and 3.0 Gy {gamma}-ray ex vivo exposure of blood suggesting this assay as suitable for the distinction between high and low dosed exposed individuals. These preliminary findings indicate the usefulness of the DCA also for therapeutic decision making.

  16. How cytogenetical methods help victims prove radiation exposure and claim right for social support: NCERM experience

    International Nuclear Information System (INIS)

    Aleksanin, S.; Slozina, N.; Neronova, E.; Smoliakov, E.

    2011-01-01

    Russian citizens who were irradiated because of radiation disasters, nuclear weapons testing and some other sources have a right to some social support and financial compensation. In order to get this compensation people have to prove that they were irradiated. As it is, not all victims for a variety of reasons have formal documents. Thus they apply for cytogenetic investigation to prove irradiation months, years and even decades after irradiation. Since 1992 the cytogenetic investigations related to radiation exposure were performed in NRCERM for more than 700 people. At the beginning of this investigation FISH method was not certified as a biodosimenty test in Russia. Only dicentric analysis was approved as a proof of irradiation. It is known that the rate of dicentrics decrease in time, but the residual level of cytogenetical markers could be revealed a long time after a radiation accident. Thus the dicentric analysis was performed for the people who applied for biological indication of radiation exposure at that time. Rates of dicentrics exceeding control levels were revealed in half the people who applied for radiation conformation. Now FISH method is certified in Russia and both cytogenetic tests of biodosimetry (dicentrics and FISH) are available for all comers. Increased levels of translocations were found in 8 cases (the dose rate from 0.16 to 0.64 Gy). On the basis of the results of cytogenetic tests official documents were supplied to these people and they were entitled to apply for radiation exposure compensation. Thus cytogenetic tests are very effective and in some cases the only possible way for the victims to prove irradiation exposure and to apply for radiation exposure compensation a long time after an accident.

  17. How cytogenetical methods help victims prove radiation exposure and claim right for social support: NCERM experience

    Energy Technology Data Exchange (ETDEWEB)

    Aleksanin, S., E-mail: Aleksanin@arcerm.spb.ru [Nikiforov Russian Center of Emergency and Radiation Medicine EMERCOM of Russia, (NRCERM) ul. Akademika Lebedeva 4/2, 194044 St. Petersburg (Russian Federation); Slozina, N., E-mail: NataliaSlozina@peterlink.ru [Nikiforov Russian Center of Emergency and Radiation Medicine EMERCOM of Russia, (NRCERM) ul. Akademika Lebedeva 4/2, 194044 St. Petersburg (Russian Federation); Neronova, E.; Smoliakov, E. [Nikiforov Russian Center of Emergency and Radiation Medicine EMERCOM of Russia, (NRCERM) ul. Akademika Lebedeva 4/2, 194044 St. Petersburg (Russian Federation)

    2011-09-15

    Russian citizens who were irradiated because of radiation disasters, nuclear weapons testing and some other sources have a right to some social support and financial compensation. In order to get this compensation people have to prove that they were irradiated. As it is, not all victims for a variety of reasons have formal documents. Thus they apply for cytogenetic investigation to prove irradiation months, years and even decades after irradiation. Since 1992 the cytogenetic investigations related to radiation exposure were performed in NRCERM for more than 700 people. At the beginning of this investigation FISH method was not certified as a biodosimenty test in Russia. Only dicentric analysis was approved as a proof of irradiation. It is known that the rate of dicentrics decrease in time, but the residual level of cytogenetical markers could be revealed a long time after a radiation accident. Thus the dicentric analysis was performed for the people who applied for biological indication of radiation exposure at that time. Rates of dicentrics exceeding control levels were revealed in half the people who applied for radiation conformation. Now FISH method is certified in Russia and both cytogenetic tests of biodosimetry (dicentrics and FISH) are available for all comers. Increased levels of translocations were found in 8 cases (the dose rate from 0.16 to 0.64 Gy). On the basis of the results of cytogenetic tests official documents were supplied to these people and they were entitled to apply for radiation exposure compensation. Thus cytogenetic tests are very effective and in some cases the only possible way for the victims to prove irradiation exposure and to apply for radiation exposure compensation a long time after an accident.

  18. State-of-the-art cytogenetic techniques to detect radiation damage induced by low doses bin human lymphocytes

    International Nuclear Information System (INIS)

    Hadjidekova, V.

    2004-01-01

    Cytogenetic techniques are the most sensitive and reliable tools for bio-monitoring and bio-dosimetry of people professionally or accidentally exposed to ionizing radiation. They are applied in addition to the evaluations of the physical dosimetry and they consider the individual radiosensitivity. The main potential risk for humans from exposure to low doses of ionizing radiations is the enhanced incidence of stochastic effects, i.e. carcinogenesis and heritable genetic effects. This report presents a comparative evaluation of the cytogenetic markers for radiation damage of humans and general conclusions of cytogenetic studies of chromosomal aberrations and micronuclei formation in individuals occupationally exposed to action of ionizing radiation. The sensitivity of the methods is compared and their great development and mastering during the last years, as well as the basis of their application - the relation between the frequency of cytogenetic markers observed in lymphocytes in peripheral blood and the risk of malignant disease. The advantages and disadvantages of different cytogenetic techniques are discussed. (author)

  19. Fluorescence in situ hybridization with reference to biodosimetry: a review

    International Nuclear Information System (INIS)

    Venkatachalam, P.; Paul, S.F.D.; Jeevanram, R.K.

    1996-01-01

    Many advances have taken place in the field of radiation biodosimetry in the recent past. Measurement of dicentric chromosome aberrations, was first developed and followed by micronuclei scoring. These, however, are unstable type aberrations and the cells carrying such aberrations are eliminated from the body in few years. They are therefore of use primarily in case of accidental exposures. The challenge is to measure the cumulative radiation exposure resulting from normal operations by measuring stable chromosome aberrations. Banding technique can measure stable chromosome aberration but require long time to analyse the banding pattern to study translocations. On the other hand fluorescence in situ hybridization (FISH) technique is sensitive, fast and easy to identify the translocations as the chromosomes involved in translocation are painted with different colours. This review brings out the requirements of various materials, their preparations, method of detection of fluorescence etc. for carrying out FISH. The experience of various laboratories using FISH in the monitoring of radiation absorbed dose is discussed. (author)

  20. Bio-dosimetry for radiation-exposed individuals

    International Nuclear Information System (INIS)

    Sauvaigo, Sylvie; Chapuis, Violaine; Caillat, Sylvain; Sarrazy, Fanny; Breton, Jean

    2013-01-01

    Exposure of civil populations to genotoxic chemicals or radioactive hazard is an increased concern. It is not only an industrial risk (chemistry plant accident for example) but also a national security problem due to the threat of radiological and nuclear terrorism. It is important to anticipate the need of a bio-dosimetry tool aimed at identifying exposed population in the absence of acute syndrome, in order to assure the medical care that would prevent carcinogenic consequences. DNA repair is a bio-marker of exposure to geno-toxics in individuals. A DNA repair signature can be assessed from Peripheral Blood Mononuclear Cells (PBMCs) that reflects the exposure history of the individuals, using a functional enzymatic assay on bio-chip. A proof of concept was obtained using PBMCs from patients undergoing radiotherapy regimen. We identified two classes of responses among patients, if we except a very atypical signature in one patient that could reflect defects in DNA repair. Interestingly, repair of the major oxidative lesions increased during the course of the radiotherapy. We propose to implement this fast, quantitative, possibly automatized assay to identify bio-markers of exposure to geno-toxics and to validate the exposure bio-markers through ex vivo exposure of blood from volunteers. (authors)

  1. Methods in human cytogenetics

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 4, discusses the various techniques used in the study human cytogenetics. The methods are discussed in historical order, from direct methods to tissue culture techniques, prenatal studies, meiotic studies, sex chromatin techniques, banding techniques, prophase banding and replication studies. Nomenclature of human chromosomes and quantitative methods are also mentioned. 60 refs., 3 figs.

  2. Shortening of culture time in conventional cytogenetic dosimetry

    International Nuclear Information System (INIS)

    Lamadrid, Ana I.; Gonzalez, Jorge E.; Romero, Ivonne; Garcia, Omar; Roy, Laurence

    2008-01-01

    Conventional cytogenetic dosimetry based on chromosome aberration in metaphases is a 'gold standard' of bio-dosimetry techniques for radiation dose assessment. This method is laborious and time consuming, the culturing process requires about 48 hours to obtain a satisfactory number of lymphocytes in mitosis. The current approach to reduce the dose estimation time by cytogenetic dosimetry is the preliminary estimation of dose counting only 50 metaphases. Another possibility is to reduce the culture time. The possibility of reduce the culture time under 48 hours adding Calyculin A has been suggested recently. In the present study we tested shorter times using Calyculin A and considering the G2/M-PCC index as culture quality indicator. Peripheral blood from healthy individuals was irradiated and then maintained at 37 C degrees for 2 hours allowing to act the cellular reparation mechanisms, lymphocytes were culture in RPMI 1640 supplemented with foetal calf serum and phytohemagglutinin. Colcemid was added 24 hours after cultures started and Calyculin A was added for the last hour. The cells were collected by centrifugation between 30 to 48 hours. The cells were treated with a hypotonic solution and the fixed cells dropped onto slides. The slides were stained with Giemsa. The incidence of metaphases with chromosomes well defined was scored. Two operators participated to the scoring according the same criteria. The results were analyzed to comparing the G2/M-PCC index relatives to achieve the shortest culture duration. The culture time reduction to 40 hours gives enough G2/M-PCC cells for dose estimation analysis. Lower culture times produced very low G2/M-PCC index. (author)

  3. Cytogenetic Resources and Information.

    Science.gov (United States)

    De Braekeleer, Etienne; Huret, Jean-Loup; Mossafa, Hossain; Dessen, Philippe

    2017-01-01

    The main databases devoted stricto sensu to cancer cytogenetics are the "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer" ( http://cgap.nci.nih.gov/Chromosomes/Mitelman ), the "Atlas of Genetics and Cytogenetics in Oncology and Haematology" ( http://atlasgeneticsoncology.org ), and COSMIC ( http://cancer.sanger.ac.uk/cosmic ).However, being a complex multistep process, cancer cytogenetics are broadened to "cytogenomics," with complementary resources on: general databases (nucleic acid and protein sequences databases; cartography browsers: GenBank, RefSeq, UCSC, Ensembl, UniProtKB, and Entrez Gene), cancer genomic portals associated with recent international integrated programs, such as TCGA or ICGC, other fusion genes databases, array CGH databases, copy number variation databases, and mutation databases. Other resources such as the International System for Human Cytogenomic Nomenclature (ISCN), the International Classification of Diseases for Oncology (ICD-O), and the Human Gene Nomenclature Database (HGNC) allow a common language.Data within the scientific/medical community should be freely available. However, most of the institutional stakeholders are now gradually disengaging, and well-known databases are forced to beg or to disappear (which may happen!).

  4. Cytogenetic highlights and transitions.

    Science.gov (United States)

    Spinner, Nancy B

    2016-06-01

    Medical cytogenetics, genetic diagnostics, and medical genetics had their origins in the late 1950's, as evaluation of human chromosomes became possible, and it was recognized that chromosomal abnormalities could cause a variety of clinical phenotypes. Dr. Laird Jackson began his medical and scientific career just as this field was emerging and he was an early adopter and driver of several key trends in the development of these fields, notably in the area of prenatal diagnostics. Laird's greatest impact was in his work to demonstrate the clinical utility of amniocentesis, chorionic villous sampling, and chromosomal microarray analysis for prenatal diagnosis. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. Cytogenetic study of a pineocytoma

    DEFF Research Database (Denmark)

    Rainho, C A; Rogatto, S R; de Moraes, L C

    1992-01-01

    The cytogenetic findings based on G-banding in a pineocytoma detected in a 29-year-old woman are reported. The chromosomal study showed numerical alterations involving chromosomes X, 5, 8, 11, 14, and 22, structural alterations of chromosomes 1, 3, 12, and 22, as well as various markers. Tumors...... of the pineal region are infrequent, and this is the first report of a pineocytoma studied cytogenetically....

  6. Cytogenetic and molecular cytogenetic methods in hemato-oncology

    International Nuclear Information System (INIS)

    Novakova, P.; Ilencikova, D.

    2010-01-01

    Cancer, either sporadic or hereditary, is a genetic disease that develops through multiple genetic changes. Specific genetic defects have been found to be associated non randomly with the predisposition, genesis, progression, and metastasis of various kinds of neoplasia. Cytogenetics in haematological malignancy to aid in diagnosis and in identifying recurrent chromosomal rearrangements, an essential prerequisite to identifying genes involved in leukaemia and lymphoma pathogenesis. In the late 1980s, a series of technologies based around fluorescence in situ hybridisation (FISH) revolutionised the field. FISH technology, a combination of molecular and conventional cytogenetic techniques, has brought modern cytogenetics to a new era with significantly higher resolutions and much wider testing spectrum. Since then, numerous new FISH-based technologies have been emerging, from metaphase FISH to interphase FISH, from single-color FISH to multicolor FISH, from comparative gnenomic hybridisation (CGH) to array CGH, and so on. In this review the advantages and limitations of each of the various types of conventional and molecular cytogenetic methodologies are discussed with regard to their application in human neoplasia. (author)

  7. Biodosimetry versus physical dosimetry for emergency dose assessment following large-scale radiological exposures

    International Nuclear Information System (INIS)

    McKeever, S.W.S.; Sholom, S.

    2016-01-01

    Existing data on intercomparisons involving biodosimetry or physical dosimetry methods are analyzed and the results interpreted regarding their efficacy in triage in emergency dosimetry following mass casualty radiological events. The biodosimetry technique examined is dicentric chromosome aberrations (DCA). The physical dosimetry techniques include electron paramagnetic resonance (EPR) of biological material (teeth) and physical material (smartphone screen glass), and optically stimulated luminescence (OSL) of electronic components (surface mount resistors) from mobile phones. Issues relating to calibration and interpretation of the data are discussed. An important conclusion of the analysis is that more research is critically needed to interpret the efficacy of the various methods. Included in this needed research are intercomparisons of the various methods in controlled experiments and the need to harmonize protocols. - Highlights: • Utility of bio- and physical dosimetry methods for emergency dosimetry triage. • Analysis of intercomparison data for different bio- and physical dosimetry methods. • The percentage of false positives and false negatives for a simulated IND event. • More research, especially intercomparisons, is required to reduce uncertainties.

  8. Biodosimetry of ionizing radiation by selective painting of prematurely condensed chromosomes in human lymphocytes

    Science.gov (United States)

    Durante, M.; George, K.; Yang, T. C.

    1997-01-01

    Painting of interphase chromosomes can be useful for biodosimetric purposes in particular cases such as radiation therapy, accidental exposure to very high radiation doses and exposure to densely ionizing radiation, for example during space missions. Biodosimetry of charged-particle radiation is analyzed in the present paper. Target cells were human peripheral blood lymphocytes irradiated in vitro with gamma rays, protons and iron ions. After exposure, lymphocytes were incubated for different times to allow repair of radiation-induced damage and then fused to mitotic hamster cells to promote premature condensation in the interphase chromosomes. Chromosome spreads were then hybridized with whole-chromosome DNA probes labeled with fluorescent stains. Dose-response curves for the induction of chromatin fragments shortly after exposure, as well as the kinetics of rejoining and misrejoining, were not markedly dependent on linear energy transfer. However, after exposure to heavy ions, more aberrations were scored in the interphase cells after incubation for repair than in metaphase samples harvested at the first postirradiation mitosis. On the other hand, no significant differences were observed in the two samples after exposure to sparsely ionizing radiation. These results suggest that interphase chromosome painting can be a useful tool for biodosimetry of particle radiation.

  9. Metabolomic applications in radiation biodosimetry: exploring radiation effects through small molecules.

    Science.gov (United States)

    Pannkuk, Evan L; Fornace, Albert J; Laiakis, Evagelia C

    2017-10-01

    Exposure of the general population to ionizing radiation has increased in the past decades, primarily due to long distance travel and medical procedures. On the other hand, accidental exposures, nuclear accidents, and elevated threats of terrorism with the potential detonation of a radiological dispersal device or improvised nuclear device in a major city, all have led to increased needs for rapid biodosimetry and assessment of exposure to different radiation qualities and scenarios. Metabolomics, the qualitative and quantitative assessment of small molecules in a given biological specimen, has emerged as a promising technology to allow for rapid determination of an individual's exposure level and metabolic phenotype. Advancements in mass spectrometry techniques have led to untargeted (discovery phase, global assessment) and targeted (quantitative phase) methods not only to identify biomarkers of radiation exposure, but also to assess general perturbations of metabolism with potential long-term consequences, such as cancer, cardiovascular, and pulmonary disease. Metabolomics of radiation exposure has provided a highly informative snapshot of metabolic dysregulation. Biomarkers in easily accessible biofluids and biospecimens (urine, blood, saliva, sebum, fecal material) from mouse, rat, and minipig models, to non-human primates and humans have provided the basis for determination of a radiation signature to assess the need for medical intervention. Here we provide a comprehensive description of the current status of radiation metabolomic studies for the purpose of rapid high-throughput radiation biodosimetry in easily accessible biofluids and discuss future directions of radiation metabolomics research.

  10. Persistence of Space Radiation Induced Cytogenetic Damage in the Blood Lymphocytes of Astronauts

    Science.gov (United States)

    George, Kerry

    Cytogenetic damage in astronaut's peripheral blood lymphocytes is a useful in vivo marker of space radiation induced damage. Moreover, if radiation induced chromosome translocations persist in peripheral blood lymphocytes for many years, as has been assumed, they could potentially be used to measure retrospective doses or prolonged low dose rate exposures. However, as more data becomes available, evidence suggests that the yield of translocations may decline with time after irradiation, at least for space radiation exposures. We present our latest follow-up measurements of chromosome aberrations in astronauts' blood lymphocytes assessed by FISH painting and collected at various times beginning directly after return from space to several years after flight. For most individuals the analysis of individual time-courses for translocations revealed a temporal decline of yields with different half-lives. Since the level of stable aberrations depends on the interplay between natural loss of circulating T-lymphocytes and replenishment from the stem or progenitor cells, the differences in the rates of decay could be explained by inter-individual variation in lymphocyte turn over. Biodosimetry estimates derived from cytogenetic analysis of samples collected a few days after return to earth lie within the range expected from physical dosimetry. However, a temporal decline in yields may indicate complications with the use of stable aberrations for retrospective dose reconstruction, and the differences in the decay time may reflect individual variability in risk from space radiation exposure. In addition, limited data on multiple flights show a lack of correlation between time in space and translocation yields. Data from one crewmember who has participated in two separate long-duration space missions and has been followed up for over 10 years provide limited information on the effect of repeat flights and show a possible adaptive response to space radiation exposure.

  11. Radiation protection - Performance criteria for laboratories performing cytogenetic triage for assessment of mass casualties in radiological or nuclear emergencies - General principles and application to dicentric assay

    International Nuclear Information System (INIS)

    2008-01-01

    The potential for nuclear and radiological emergencies involving mass casualties from accidental or malicious acts or terrorism requires generic procedures for emergency dose assessment to help the development of medical response capabilities. A mass-casualties incident is defined here as an event that exceeds the local medical resources. Biological dosimetry, based on cytogenetic analysis using the dicentric assay, typically applied for accidental dose assessment, has been defined in ISO 19238. Cytogenetic triage is the use of chromosome damage to evaluate and assess approximately and rapidly radiation doses received by individuals in order to supplement the clinical categorization of casualties. This International Standard focuses on the use of the dicentric assay for rapid cytogenetic triage involving mass-casualty incidents. The primary purpose of this International Standard is to provide a guideline to all laboratories in order to perform the dicentric-bioassay - cytogenetic triage for dose assessment using documented and validated procedures. Secondly, it can facilitate the application of cytogenetic biodosimetry networks to permit comparison of results obtained in different laboratories. Finally, it is expected that laboratories newly commissioned to carry out the cytogenetic triage conform to this International Standard in order to perform the triage reproducibly and accurately. This International Standard is written in the form of procedures to adopt for dicentric-bioassay - cytogenetic triage biological dosimetry for overexposures involving mass radiological casualties. The criteria required for such measurements usually depend on the application of the results: medical management when appropriate, radiation-protection management, record keeping and medical/legal requirements. For example, selected cases can be analysed to produce a more accurate evaluation of high partial-body exposure; secondly, doses can be estimated for persons exposed below the

  12. Dose-response curve for blood exposed to gamma-neutron mixed field by conventional cytogenetic method

    International Nuclear Information System (INIS)

    Brandao, Jose Odinilson de C.; Souza, Priscilla L.G.; Santos, Joelan A.L.; Vilela, Eudice C.; Lima, Fabiana F.; Calixto, Merilane S.; Santos, Neide

    2009-01-01

    There is increasing concern about airline crew members (about one million worldwide) are exposed to measurable neutrons doses. Historically, cytogenetic biodosimetry assays have been based on quantifying asymmetrical chromosome alterations (dicentrics, centric rings and acentric fragments) in mytogen-stimulated T-lymphocytes in their first mitosis after radiation exposure. Increased levels of chromosome damage in peripheral blood lymphocytes are a sensitive indicator of radiation exposure and they are routinely exploited for assessing radiation absorbed dose after accidental or occupational exposure. Since radiological accidents are not common, not all nations feel that it is economically justified to maintain biodosimetry competence. However, dependable access to biological dosimetry capabilities is completely critical in event of an accident. In this paper the dose-response curve was measured for the induction of chromosomal alterations in peripheral blood lymphocytes after chronic exposure in vitro to neutron-gamma mixes field. Blood was obtained from one healthy donor and exposed to two neutron-gamma mixed field from sources 241 AmBe (20 Ci) at the Neutron Calibration Laboratory (NCL-CRCN/NE-PE-Brazil). The evaluated absorbed doses were 0.2 Gy; 1.0 Gy and 2.5 Gy. The dicentric chromosomes were observed at metaphase, following colcemid accumulation and 1000 well-spread metaphase figures were analyzed for the presence of dicentrics by two experienced scorers after painted by giemsa 5%. Our preliminary results showed a linear dependence between radiations absorbed dose and dicentric chromosomes frequencies. Dose-response curve described in this paper will contribute to the construction of calibration curve that will be used in our laboratory for biological dosimetry. (author)

  13. Some chemical influence on genetic effects of ionizing radiation and biodosimetry problems

    International Nuclear Information System (INIS)

    Mosse, I.B.

    2007-01-01

    Complete text of publication follows. Radiation sensitivity is a quantitative character from genetic point of view and the distribution of this character values in populations is characterized by a binomial curve. So, 50% of the population have the mean values of radiosensitivity (x ± 0.67σ), 95% of individuals have radiosensitivity values equal to x ± 1.96σ and 5% of the population have this characters ranged from x ± 1.96σ to x ± 3σ, with division into the supersensitive fraction (2.5%) and the superresistant one (2.5%). Radiosensitivity as well as other quantitative characters is caused by the interaction of some pairs of polymeric genes determining a lot of physiological and biochemical organism features. Thus, irradiation in the same dose can induce different level of mutations or other biological effects in different humans. Besides, radiosensitivity depends to a great degree upon environmental factors. For instance, a level of radiosensitivity depends on physical activity, nervous and psychological state, hormonal balance etc. A diet can change an individual radioresistance - food rich in vitamins, microelements, adaptogens and so on favors the increase in individual radioresistance. Many food stuffs contain radioprotectors or antimutagens. So, tea, coffee, cocoa, chocolate, mushrooms and other products have melanin, which is a very effective radioprotector not only against acute irradiation, but even against chronic one according to out data. On the contrary some substances in our food such as residual amounts of fertilizers or herbicides can be mutagenic or increase mutagenic action of radiation. In the last case we observed synergetic or antagonistic effects. Radioadaptive response is one of the most significant factors which can be responsible for uncorrected radiation dose evaluation by biodosimetry methods. This phenomenon decreases effects of ionizing radiation approximately twice. Adaptive reaction can be induced by low radiation dose as well

  14. Cytogenetic prognostication within medulloblastoma subgroups.

    Science.gov (United States)

    Shih, David J H; Northcott, Paul A; Remke, Marc; Korshunov, Andrey; Ramaswamy, Vijay; Kool, Marcel; Luu, Betty; Yao, Yuan; Wang, Xin; Dubuc, Adrian M; Garzia, Livia; Peacock, John; Mack, Stephen C; Wu, Xiaochong; Rolider, Adi; Morrissy, A Sorana; Cavalli, Florence M G; Jones, David T W; Zitterbart, Karel; Faria, Claudia C; Schüller, Ulrich; Kren, Leos; Kumabe, Toshihiro; Tominaga, Teiji; Shin Ra, Young; Garami, Miklós; Hauser, Peter; Chan, Jennifer A; Robinson, Shenandoah; Bognár, László; Klekner, Almos; Saad, Ali G; Liau, Linda M; Albrecht, Steffen; Fontebasso, Adam; Cinalli, Giuseppe; De Antonellis, Pasqualino; Zollo, Massimo; Cooper, Michael K; Thompson, Reid C; Bailey, Simon; Lindsey, Janet C; Di Rocco, Concezio; Massimi, Luca; Michiels, Erna M C; Scherer, Stephen W; Phillips, Joanna J; Gupta, Nalin; Fan, Xing; Muraszko, Karin M; Vibhakar, Rajeev; Eberhart, Charles G; Fouladi, Maryam; Lach, Boleslaw; Jung, Shin; Wechsler-Reya, Robert J; Fèvre-Montange, Michelle; Jouvet, Anne; Jabado, Nada; Pollack, Ian F; Weiss, William A; Lee, Ji-Yeoun; Cho, Byung-Kyu; Kim, Seung-Ki; Wang, Kyu-Chang; Leonard, Jeffrey R; Rubin, Joshua B; de Torres, Carmen; Lavarino, Cinzia; Mora, Jaume; Cho, Yoon-Jae; Tabori, Uri; Olson, James M; Gajjar, Amar; Packer, Roger J; Rutkowski, Stefan; Pomeroy, Scott L; French, Pim J; Kloosterhof, Nanne K; Kros, Johan M; Van Meir, Erwin G; Clifford, Steven C; Bourdeaut, Franck; Delattre, Olivier; Doz, François F; Hawkins, Cynthia E; Malkin, David; Grajkowska, Wieslawa A; Perek-Polnik, Marta; Bouffet, Eric; Rutka, James T; Pfister, Stefan M; Taylor, Michael D

    2014-03-20

    Medulloblastoma comprises four distinct molecular subgroups: WNT, SHH, Group 3, and Group 4. Current medulloblastoma protocols stratify patients based on clinical features: patient age, metastatic stage, extent of resection, and histologic variant. Stark prognostic and genetic differences among the four subgroups suggest that subgroup-specific molecular biomarkers could improve patient prognostication. Molecular biomarkers were identified from a discovery set of 673 medulloblastomas from 43 cities around the world. Combined risk stratification models were designed based on clinical and cytogenetic biomarkers identified by multivariable Cox proportional hazards analyses. Identified biomarkers were tested using fluorescent in situ hybridization (FISH) on a nonoverlapping medulloblastoma tissue microarray (n = 453), with subsequent validation of the risk stratification models. Subgroup information improves the predictive accuracy of a multivariable survival model compared with clinical biomarkers alone. Most previously published cytogenetic biomarkers are only prognostic within a single medulloblastoma subgroup. Profiling six FISH biomarkers (GLI2, MYC, chromosome 11 [chr11], chr14, 17p, and 17q) on formalin-fixed paraffin-embedded tissues, we can reliably and reproducibly identify very low-risk and very high-risk patients within SHH, Group 3, and Group 4 medulloblastomas. Combining subgroup and cytogenetic biomarkers with established clinical biomarkers substantially improves patient prognostication, even in the context of heterogeneous clinical therapies. The prognostic significance of most molecular biomarkers is restricted to a specific subgroup. We have identified a small panel of cytogenetic biomarkers that reliably identifies very high-risk and very low-risk groups of patients, making it an excellent tool for selecting patients for therapy intensification and therapy de-escalation in future clinical trials.

  15. Cytogenetic observations following thallium poisoning.

    Science.gov (United States)

    Hantson, P; Desoir, R; Léonard, E D; Crutzen-Fayt, M C; Léonard, A; Mahieu, P

    1997-02-07

    Observations have been performed on peripheral blood lymphocytes from a patient having ingested 200 mg thallium sulfate, in order to evaluate the ability of the compound to produce cytogenetic damage in vivo in humans. Our results demonstrate that neither the yield of structural chromosome aberrations nor sister chromatid exchanges were significantly modified. The drastic increase of binucleated cells with micronuclei indicates that thallium sulfate has in common with many metallic compounds the ability to interfere with chromosome distribution.

  16. Cytogenetic Prognostication Within Medulloblastoma Subgroups

    Science.gov (United States)

    Shih, David J.H.; Northcott, Paul A.; Remke, Marc; Korshunov, Andrey; Ramaswamy, Vijay; Kool, Marcel; Luu, Betty; Yao, Yuan; Wang, Xin; Dubuc, Adrian M.; Garzia, Livia; Peacock, John; Mack, Stephen C.; Wu, Xiaochong; Rolider, Adi; Morrissy, A. Sorana; Cavalli, Florence M.G.; Jones, David T.W.; Zitterbart, Karel; Faria, Claudia C.; Schüller, Ulrich; Kren, Leos; Kumabe, Toshihiro; Tominaga, Teiji; Shin Ra, Young; Garami, Miklós; Hauser, Peter; Chan, Jennifer A.; Robinson, Shenandoah; Bognár, László; Klekner, Almos; Saad, Ali G.; Liau, Linda M.; Albrecht, Steffen; Fontebasso, Adam; Cinalli, Giuseppe; De Antonellis, Pasqualino; Zollo, Massimo; Cooper, Michael K.; Thompson, Reid C.; Bailey, Simon; Lindsey, Janet C.; Di Rocco, Concezio; Massimi, Luca; Michiels, Erna M.C.; Scherer, Stephen W.; Phillips, Joanna J.; Gupta, Nalin; Fan, Xing; Muraszko, Karin M.; Vibhakar, Rajeev; Eberhart, Charles G.; Fouladi, Maryam; Lach, Boleslaw; Jung, Shin; Wechsler-Reya, Robert J.; Fèvre-Montange, Michelle; Jouvet, Anne; Jabado, Nada; Pollack, Ian F.; Weiss, William A.; Lee, Ji-Yeoun; Cho, Byung-Kyu; Kim, Seung-Ki; Wang, Kyu-Chang; Leonard, Jeffrey R.; Rubin, Joshua B.; de Torres, Carmen; Lavarino, Cinzia; Mora, Jaume; Cho, Yoon-Jae; Tabori, Uri; Olson, James M.; Gajjar, Amar; Packer, Roger J.; Rutkowski, Stefan; Pomeroy, Scott L.; French, Pim J.; Kloosterhof, Nanne K.; Kros, Johan M.; Van Meir, Erwin G.; Clifford, Steven C.; Bourdeaut, Franck; Delattre, Olivier; Doz, François F.; Hawkins, Cynthia E.; Malkin, David; Grajkowska, Wieslawa A.; Perek-Polnik, Marta; Bouffet, Eric; Rutka, James T.; Pfister, Stefan M.; Taylor, Michael D.

    2014-01-01

    Purpose Medulloblastoma comprises four distinct molecular subgroups: WNT, SHH, Group 3, and Group 4. Current medulloblastoma protocols stratify patients based on clinical features: patient age, metastatic stage, extent of resection, and histologic variant. Stark prognostic and genetic differences among the four subgroups suggest that subgroup-specific molecular biomarkers could improve patient prognostication. Patients and Methods Molecular biomarkers were identified from a discovery set of 673 medulloblastomas from 43 cities around the world. Combined risk stratification models were designed based on clinical and cytogenetic biomarkers identified by multivariable Cox proportional hazards analyses. Identified biomarkers were tested using fluorescent in situ hybridization (FISH) on a nonoverlapping medulloblastoma tissue microarray (n = 453), with subsequent validation of the risk stratification models. Results Subgroup information improves the predictive accuracy of a multivariable survival model compared with clinical biomarkers alone. Most previously published cytogenetic biomarkers are only prognostic within a single medulloblastoma subgroup. Profiling six FISH biomarkers (GLI2, MYC, chromosome 11 [chr11], chr14, 17p, and 17q) on formalin-fixed paraffin-embedded tissues, we can reliably and reproducibly identify very low-risk and very high-risk patients within SHH, Group 3, and Group 4 medulloblastomas. Conclusion Combining subgroup and cytogenetic biomarkers with established clinical biomarkers substantially improves patient prognostication, even in the context of heterogeneous clinical therapies. The prognostic significance of most molecular biomarkers is restricted to a specific subgroup. We have identified a small panel of cytogenetic biomarkers that reliably identifies very high-risk and very low-risk groups of patients, making it an excellent tool for selecting patients for therapy intensification and therapy de-escalation in future clinical trials. PMID

  17. Minisatellite mutations and retrospective biodosimetry of population living close to the Semipalatinsk nuclear test site

    International Nuclear Information System (INIS)

    Lindholm, C.; Bersimbacv, R. I.; Dubrova, Y. E.; Hulten, M.; Bigbee, W. I.; Murphy, B. P.; Koivistoinen, A.; Tankimonova, M.; Mamyrbaeva, Z.; Djansugarova, L.; Mustonen, R.; Salomaa, S.

    2004-01-01

    The objectives of the study were to determine minisatellite mutation rates in families in three generations and to perform retrospective biodosimetry of individuals in these families living close to the Semipalatinsk nuclear test site in Kazakhstan. The oldes generation (Po) lived in the area at the time of the first Soviet nuclear test in 1949 whereas the younger generations (F1,F2) were exposed to smaller doses from the residual fallout and later tests. Matched control families in three generations living in non-contamianted areas were analysed in parallel. The retrospective biodosimetry comprehended two endpoints; chromosomal translocations determined by FISH chromosome painting and the glycophorin A (GPA) somatic mutation assay. The minisatellite mutation rate in the cohort of P0 parents was 1-8-fold higher than in the control non-exposed population. Moreover, the minisatellite mutatin rate in the cohort of f1 parents from the exposed area showed a significant negative correlation with with the year of birth, fully consistent with the decay of radioisotopes after the cessation of surface and atmospheric nuclear tests. The results from the FISH painting analysis showed similar translocation frequencies in the Semipalatinsk cohort and the control group. Based on the FISH results it can be concluded that the P0 generation has received a cumulative mean dose of less than 0.5 Gy. The GPA assay did not reveal significant diffrences in the variant cell frequencies for all subjects from the Semipalatinsk area compared with the matched controls. However, a significant increase (P<0.05) of the mean allele-loss φN variant frequency was observed among the exposed P0 generation in comparison to controls. Considering the sensitivity of the GPA assay, the results suggest that the mean dose to the P0 generation of the affected villages was relatively low and in accordance to the results obtained using FISH. (Author) 17 refs

  18. CYTOGENETIC ANALYSIS IN SLOVENIAN ACUTE LEUKEMIA PATIENTS

    Directory of Open Access Journals (Sweden)

    Helena Podgornik

    2008-04-01

    Using molecular cytogenetic and genetic methods a possibility that some of chromosomalchanges were overlooked was considerably minimized. On the basis of the analyzed datawe can be confident that the cytogenetic diagnostic approach in our acute leukemia patients is in accordance with international guidelines

  19. Reporting of Diagnostic Cytogenetic Results.

    Science.gov (United States)

    Giersch, Anne B S; Bieber, Frederick R; Dubuc, Adrian M; Fletcher, Jonathan A; Ligon, Azra H; Mason-Suares, Heather; Morton, Cynthia C; Weremowicz, Stanislawa; Xiao, Sheng; Dal Cin, Paola

    2016-04-01

    This appendix, developed by the staff at the Center for Advanced Molecular Diagnostics in the Department of Pathology at the Brigham and Women's Hospital, includes a comprehensive list of current "macros" or standardized statements used to facilitate reporting of cytogenetic results. These are provided as a useful reference for other laboratories. The statements are organized under the general categories of constitutional or acquired abnormalities and subdivided into analysis type (GTG-banding, FISH, or chromosomal microarray). Multi-specimen usage macros are included that can be applied to two or more specimen types. Copyright © 2016 John Wiley & Sons, Inc.

  20. Cytogenetic effects of orthopedic constructions

    Directory of Open Access Journals (Sweden)

    Scheremetjeva A.S.

    2012-06-01

    Full Text Available Research objective: To estimate cytogenetic effect of dentures on the condition of buccal epithelium by means of the micronuclear test. Materials and methods: For this test the most convenient object of the research is nonkeratinized stratified epithelium which has been taken from 24 patients before prosthetics. Statistical data processing has been done by means of a package of statistical programs «Stadia». Results: The increase in frequency of occurrence of cells with micronuclei in buccal epithelium in patients after the prosthetics that testifies to stability disturbance of genetic material in the studied cells. Influence of fillings and dentures has been revealed. Conclusion: It allows to apply safe materials in stomatology, having reduced their side effects on an organism as a whole

  1. Comparative molecular cytogenetics in Cetartiodactyla.

    Science.gov (United States)

    Rubes, J; Musilova, P; Kopecna, O; Kubickova, S; Cernohorska, H; Kulemsina, A I

    2012-01-01

    Cetartiodactyla comprises Artiodactyla (even-toed ungulates) and Cetacea (whales, dolphins and porpoises). Artiodactyla is a large taxon represented by about 200 living species ranked in 10 families. Cetacea are classified into 13 families with almost 80 species. Many publications concerning karyotypic relationships in Cetartiodactyla have been published in previous decades. Formerly, the karyotypes of closely related species were compared by chromosome banding. Introduction of molecular cytogenetic methods facilitated comparative mapping between species with highly rearranged karyotypes and distantly related species. Such information is a prerequisite for the understanding of karyotypic phylogeny and the reconstruction of the karyotypes of common ancestors. This study summarizes the data on chromosome evolution in Cetartiodactyla, mainly derived from molecular cytogenetic studies. Traditionally, phylogenetic relationships of most groups have been estimated using morphological data. However, the results of some molecular studies of mammalian phylogeny are discordant with traditional conceptions of phylogeny. Cetartiodactyls provide several examples of incongruence between traditional morphological and molecular data. Such cases of conflict include the relationships of the major clades of artiodactyls, the relationships among the extant families of the suborder Ruminantia or the phylogeny of the family Bovidae. The most unexpected aspect of the molecular phylogeny was the recognition that Cetacea is a deeply nested member of Artiodactyla. The largest living order of terrestrial hoofed mammals is the even-toed hoofed mammals, or Artiodactyla. The artiodactyls are composed of over 190 living species including pigs, peccaries, hippos, camels, llamas, deer, pronghorns, giraffes, sheep, goats, cattle and antelopes. Cetacea is an order of wholly aquatic mammals, which include whales, dolphins and porpoises. Cetartiodactyla has become the generally accepted name for the

  2. The cytogenetic damage in gynaecological cancer patients during radiotherapy. The variability of cytogenetic response to irradiation

    International Nuclear Information System (INIS)

    Vyinnyikov, V.A.; Maznik, N.A.; Sipko, T.C.; Pshenyichna, N.D.

    2013-01-01

    The limits of cytogenetic changes in blood lymphocytes of gynecological cancer patients undergoing radiotherapy and assessment the individual variability of the kinetics of chromosome aberration yields depending on treatment schemes was evaluated. Cytogenetic study was carried out in 53 female patients with uterine cancer. For the first time in vivo aberration yields were compared in the representational groups of gynecological cancer patients undergoing telegammatherapy, intracavitary brachytherapy or their combination; the limits of cytogenetic changes were evaluated and the magnitude of the individual variability of kinetics of cytogenetic damage yield was assessed depending on the scheme of therapeutic irradiation

  3. A dose-response curve for biodosimetry from a 6 MV electron linear accelerator

    Energy Technology Data Exchange (ETDEWEB)

    Lemos-Pinto, M.M.P.; Cadena, M.; Santos, N.; Fernandes, T.S.; Borges, E.; Amaral, A., E-mail: marcelazoo@yahoo.com.br [Universidade Federal de Pernambuco (UFPE), Recife, PE (Brazil). Departamento de Energia Nuclear

    2015-10-15

    Biological dosimetry (biodosimetry) is based on the investigation of radiation-induced biological effects (biomarkers), mainly dicentric chromosomes, in order to correlate them with radiation dose. To interpret the dicentric score in terms of absorbed dose, a calibration curve is needed. Each curve should be constructed with respect to basic physical parameters, such as the type of ionizing radiation characterized by low or high linear energy transfer (LET) and dose rate. This study was designed to obtain dose calibration curves by scoring of dicentric chromosomes in peripheral blood lymphocytes irradiated in vitro with a 6 MV electron linear accelerator (Mevatron M, Siemens, USA). Two software programs, CABAS (Chromosomal Aberration Calculation Software) and Dose Estimate, were used to generate the curve. The two software programs are discussed; the results obtained were compared with each other and with other published low LET radiation curves. Both software programs resulted in identical linear and quadratic terms for the curve presented here, which was in good agreement with published curves for similar radiation quality and dose rates. (author)

  4. A dose-response curve for biodosimetry from a 6 MV electron linear accelerator.

    Science.gov (United States)

    Lemos-Pinto, M M P; Cadena, M; Santos, N; Fernandes, T S; Borges, E; Amaral, A

    2015-10-01

    Biological dosimetry (biodosimetry) is based on the investigation of radiation-induced biological effects (biomarkers), mainly dicentric chromosomes, in order to correlate them with radiation dose. To interpret the dicentric score in terms of absorbed dose, a calibration curve is needed. Each curve should be constructed with respect to basic physical parameters, such as the type of ionizing radiation characterized by low or high linear energy transfer (LET) and dose rate. This study was designed to obtain dose calibration curves by scoring of dicentric chromosomes in peripheral blood lymphocytes irradiated in vitro with a 6 MV electron linear accelerator (Mevatron M, Siemens, USA). Two software programs, CABAS (Chromosomal Aberration Calculation Software) and Dose Estimate, were used to generate the curve. The two software programs are discussed; the results obtained were compared with each other and with other published low LET radiation curves. Both software programs resulted in identical linear and quadratic terms for the curve presented here, which was in good agreement with published curves for similar radiation quality and dose rates.

  5. [Progress of cytogenetic detection in myelodysplastic syndromes].

    Science.gov (United States)

    Zhou, Qing-Bing; Hu, Xiao-Mei; Liu, -Feng; Ma, Rou

    2011-12-01

    In recent years, significant progresses have been got in study on pathogenesis, treatment and prognosis of myelodysplastic syndromes (MDS), especially on use of new technology, that has great importance for cytogenetics of MDS. Recently, the progress of cytogenetic detection in MDS is very remarkable. Based on the metaphase cytogenetics (MC) method, prognostic significance of cytogenetics in MDS was clarified gradually. For example, people have known the prognostic significance of 12 p-, 11 q-, +21, t(11(q23)), although these genetic abnormalities are rare in the MDS. In addition, chromosome mutation emerged in the process of MDS may indicate the poor prognosis. On the other hand, with the use of SNP-A and aCGH in the study of genetics, MDS cytogenetic abnormality detection rate has been further improved and can reach to 78%. At the same time, some of MDS patients with the "normal karyotype" detected by MC have new hidden aberrations through the SNP or CGH detection, and these patients have a poorer prognosis. In this review, the advances of study on cytogenetic detection for MDS based on MC and SNP-A or aCGH methods are summarized.

  6. The Cerrado (Brazil) plant cytogenetics database.

    Science.gov (United States)

    Roa, Fernando; Telles, Mariana Pires de Campos

    2017-01-01

    Cerrado is a biodiversity hotspot that has lost ca. 50% of its original vegetation cover and hosts ca. 11,000 species belonging to 1,423 genera of phanerogams. For a fraction of those species some cytogenetic characteristics like chromosome numbers and C-value were available in databases, while other valuable information such as karyotype formula and banding patterns are missing. In order to integrate and share all cytogenetic information published for Cerrado species, including frequency of cytogenetic attributes and scientometrics aspects, Cerrado plant species were searched in bibliographic sources, including the 50 richest genera (with more than 45 taxa) and 273 genera with only one species in Cerrado. Determination of frequencies and the database website (http://cyto.shinyapps.io/cerrado) were developed in R. Studies were pooled by employed technique and decade, showing a rise in non-conventional cytogenetics since 2000. However, C-value estimation, heterochromatin staining and molecular cytogenetics are still not common for any family. For the richest and best sampled families, the following modal 2n counts were observed: Oxalidaceae 2n = 12, Lythraceae 2n = 30, Sapindaceae 2n = 24, Solanaceae 2n = 24, Cyperaceae 2n = 10, Poaceae 2n = 20, Asteraceae 2n = 18 and Fabaceae 2n = 26. Chromosome number information is available for only 16.1% of species, while there are genome size data for only 1.25%, being lower than the global percentages. In general, genome sizes were small, ranging from 2C = ca. 1.5 to ca. 3.5 pg. Intra-specific 2n number variation and higher 2n counts were mainly related to polyploidy, which relates to the prevalence of even haploid numbers above the mode of 2n in most major plant clades. Several orphan genera with almost no cytogenetic studies for Cerrado were identified. This effort represents a complete diagnosis for cytogenetic attributes of plants of Cerrado.

  7. Assessing a new gene expression analysis technique for radiation biodosimetry applications

    Energy Technology Data Exchange (ETDEWEB)

    Manning, Grainne; Kabacik, Sylwia; Finnon, Paul; Paillier, Francois; Bouffler, Simon [Cancer Genetics and Cytogenetics, Biological Effects Department, Centre for Radiation, Chemical and Environmental Hazards, Health Protection Agency, Chilton, Didcot, Oxfordshire OX11 ORQ (United Kingdom); Badie, Christophe, E-mail: christophe.badie@hpa.org.uk [Cancer Genetics and Cytogenetics, Biological Effects Department, Centre for Radiation, Chemical and Environmental Hazards, Health Protection Agency, Chilton, Didcot, Oxfordshire OX11 ORQ (United Kingdom)

    2011-09-15

    The response to any radiation accident or incident involving actual or potential ionising radiation exposure requires accurate and rapid assessment of the doses received by individuals. The techniques available today for biodosimetry purposes are not fully adapted to rapid high-throughput measurements of exposures in large numbers of individuals. A recently emerging technique is based on gene expression analysis, as there are a number of genes which are radiation responsive in a dose-dependent manner. The present work aimed to assess a new technique which allows the detection of the level of expression of up to 800 genes without need of enzymatic reactions. In order to do so, human peripheral blood was exposed ex vivo to a range of x-ray doses from 5 mGy to 4 Gy of x-rays and the transcriptional expression of five radiation-responsive genes PHPT1, PUMA, CCNG1, DDB2 and MDM2 was studied by both the nCounter Digital Analyzer and Multiplex Quantitative Real-Time Polymerase Chain Reaction (MQRT-PCR) as the benchmark technology. Results from both techniques showed good correlation for all genes with R{sup 2} values ranging between 0.8160 and 0.9754. The reproducibility of the nCounter Digital Analyzer was also assessed in independent biological replicates and proved to be good. Although the slopes of the correlation of results obtained by the techniques suggest that MQRT-PCR is more sensitive than the nCounter Digital Analyzer, the nCounter Digital Analyzer provides sensitive and reliable data on modifications in gene expression in human blood exposed to radiation without enzymatic amplification of RNA prior to analysis.

  8. Optical Spectroscopy and Multivariate Analysis for Biodosimetry and Monitoring of Radiation Injury to the Skin

    Energy Technology Data Exchange (ETDEWEB)

    Levitskaia, Tatiana G.; Bryan, Samuel A.; Creim, Jeffrey A.; Curry, Terry L.; Luders, Teresa; Thrall, Karla D.; Peterson, James M.

    2012-08-01

    In the event of an intentional or accidental release of ionizing radiation in a densely populated area, timely assessment and triage of the general population for the radiation exposure is critical. In particular, a significant number of the victims may sustain cutaneous radiation injury, which increases the mortality and worsens the overall prognosis of the victims suffered from combined thermal/mechanical and radiation trauma. Diagnosis of the cutaneous radiation injury is challenging, and established methods largely rely on visual manifestations, presence of the skin contamination, and a high degree of recall by the victim. Availability of a high throughput non-invasive in vivo biodosimetry tool for assessment of the radiation exposure of the skin is of particular importance for the timely diagnosis of the cutaneous injury. In the reported investigation, we have tested the potential of an optical reflectance spectroscopy for the evaluation of the radiation injury to the skin. This is technically attractive because optical spectroscopy relies on well-established and routinely used for various applications instrumentation, one example being pulse oximetry which uses selected wavelengths for the quantification of the blood oxygenation. Our method relies on a broad spectral region ranging from the locally absorbed, shallow-penetrating ultraviolet and visible (250 to 800 nm) to more deeply penetrating near-Infrared (800 – 1600 nm) light for the monitoring of multiple physiological changes in the skin upon irradiation. Chemometrics is a multivariate methodology that allows the information from entire spectral region to be used to generate predictive regression models. In this report we demonstrate that simple spectroscopic method, such as the optical reflectance spectroscopy, in combination with multivariate data analysis, offers the promise of rapid and non-invasive in vivo diagnosis and monitoring of the cutaneous radiation exposure, and is able accurately predict

  9. Accurate Gene Expression-Based Biodosimetry Using a Minimal Set of Human Gene Transcripts

    Energy Technology Data Exchange (ETDEWEB)

    Tucker, James D., E-mail: jtucker@biology.biosci.wayne.edu [Department of Biological Sciences, Wayne State University, Detroit, Michigan (United States); Joiner, Michael C. [Department of Radiation Oncology, Wayne State University, Detroit, Michigan (United States); Thomas, Robert A.; Grever, William E.; Bakhmutsky, Marina V. [Department of Biological Sciences, Wayne State University, Detroit, Michigan (United States); Chinkhota, Chantelle N.; Smolinski, Joseph M. [Department of Electrical and Computer Engineering, Wayne State University, Detroit, Michigan (United States); Divine, George W. [Department of Public Health Sciences, Henry Ford Hospital, Detroit, Michigan (United States); Auner, Gregory W. [Department of Electrical and Computer Engineering, Wayne State University, Detroit, Michigan (United States)

    2014-03-15

    Purpose: Rapid and reliable methods for conducting biological dosimetry are a necessity in the event of a large-scale nuclear event. Conventional biodosimetry methods lack the speed, portability, ease of use, and low cost required for triaging numerous victims. Here we address this need by showing that polymerase chain reaction (PCR) on a small number of gene transcripts can provide accurate and rapid dosimetry. The low cost and relative ease of PCR compared with existing dosimetry methods suggest that this approach may be useful in mass-casualty triage situations. Methods and Materials: Human peripheral blood from 60 adult donors was acutely exposed to cobalt-60 gamma rays at doses of 0 (control) to 10 Gy. mRNA expression levels of 121 selected genes were obtained 0.5, 1, and 2 days after exposure by reverse-transcriptase real-time PCR. Optimal dosimetry at each time point was obtained by stepwise regression of dose received against individual gene transcript expression levels. Results: Only 3 to 4 different gene transcripts, ASTN2, CDKN1A, GDF15, and ATM, are needed to explain ≥0.87 of the variance (R{sup 2}). Receiver-operator characteristics, a measure of sensitivity and specificity, of 0.98 for these statistical models were achieved at each time point. Conclusions: The actual and predicted radiation doses agree very closely up to 6 Gy. Dosimetry at 8 and 10 Gy shows some effect of saturation, thereby slightly diminishing the ability to quantify higher exposures. Analyses of these gene transcripts may be advantageous for use in a field-portable device designed to assess exposures in mass casualty situations or in clinical radiation emergencies.

  10. Significance of FISH in clinical cytogenetics

    Energy Technology Data Exchange (ETDEWEB)

    Gopal Rao, V.V.N.; Harris, S.; Roop, H. [H.A. Chapman Institute of Medical Genetics, Tulsa, OK (United States)] [and others

    1994-09-01

    Ever since its discovery, FISH technology has become an invaluable adjunct to conventional cytogenetics. FISH has been instrumental in resolving previously unresolved cytogenetic dilemmas. FISH has been used to elucidate complex as well as subtle chromosomal translocations, in detection of microdeletions, to confirm duplications and inversions and to identify marker chromosomes. We report a few selected cases where FISH proved to be invaluable in not only confirming the anomaly, but also in arriving at an accurate diagnosis and appropriate counseling of the patients. These include 3 cases of prenatal and 3 cases of postnatal diagnosis. The results clearly demonstrate the significance of FISH in identifying and interpreting the difficult karyotype in clinical cytogenetics. In addition, FISH has been used to rule out microdeletions in Prader-Willi (16), Angelman (3), Miller-Dieker (7), DiGeorge (4) and Smith-Magenis (1) syndrome patients. Without FISH in the majority of these cases, it would not have been possible to accurately identify the karyotype and interpret the results. Hence, we recommend that FISH be used as a powerful adjunct to conventional cytogenetics in order to arrive at an accurate interpretation of the results but not to replace routine cytogenetic studies.

  11. Genetics Home Reference: cytogenetically normal acute myeloid leukemia

    Science.gov (United States)

    ... normal acute myeloid leukemia Cytogenetically normal acute myeloid leukemia Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer ...

  12. Assessment of the Technologies for Molecular Biodosimetry for Human Low-Dose Radiation Exposure Symposium: Agenda and Abstracts

    Energy Technology Data Exchange (ETDEWEB)

    Coleman, Matthew A. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Ramakrishnan, Narayani [National Inst. of Allergy and Infectious Diseases, Bethesda, MD (United States)

    2009-11-16

    In the event of a radiological accident, the rapid evaluation of the individual absorbed dose is paramount to discriminate those individuals who must receive medical attention. New research with genomic- and proteomic-wide tools is showing that within minutes to hours after exposure to ionizing radiation the cellular machinery is modified. For example: large-scale changes occur in the gene expression profiles involving a broad variety of cellular pathways after a wide range of both low dose (<10 cGy) and high dose (>10 cGy) ionizing radiation exposures. Symposium 12 was organized to address a wide range of biological effects using the latest technologies. To address current models following ionizing radiation exposure, methods in biodosimetry and dose effects the symposia featured a general overview titled “Model Systems and Current Approaches in Biodosimetry” by Matthew A. Coleman, from Lawrence Livermore National Laboratory and a talk entitled “Brief Overview of Biodosimetry Projects in the NIH Rad/Nuc Program” by Dr. Narayani Ramakrishnan, National Institute of Allergy and Infectious Diseases. These two talk set the tone for issues in data and model integration as well as addressing the national need for robust technologies for biological dosimetry. The report continues with more description of the presentations, along with the agenda and abstracts of the papers presented.

  13. Cytogenetics of melanoma and nonmelanoma skin cancer.

    Science.gov (United States)

    Carless, Melanie A; Griffiths, Lyn R

    2014-01-01

    Cytogenetic analysis of melanoma and nonmelanoma skin cancers has revealed recurrent aberrations, the frequency of which is reflective of malignant potential. Highly aberrant karyotypes are seen in melanoma, squamous cell carcinoma, actinic keratosis, Merkel cell carcinoma and cutaneous lymphomas with more stable karyotypes seen in basal cell carcinoma, keratoacanthoma, Bowen's disease and dermatofibrosarcoma protuberans. Some aberrations are common among a number of skin cancer types including rearrangements and numerical abnormalities of chromosome 1, -3p, +3q, partial or entire trisomy 6, trisomy 7, +8q, -9p, +9q, partial or entire loss of chromosome 10, -17p, +17q and partial or entire gain of chromosome 20. Combination of cytogenetic analysis with other molecular genetic techniques has enabled the identification of not only aberrant chromosomal regions, but also the genes that contribute to a malignant phenotype. This review provides a comprehensive summary of the pertinent cytogenetic aberrations associated with a variety of melanoma and nonmelanoma skin cancers.

  14. Cytogenetic and morphological assessment of bone marrow in therapeutic irradiation

    International Nuclear Information System (INIS)

    Sharma, U.; Das, B.P.; Singhal, R.M.; Radhakrishnaiah, Y.; Rath, G.K.; Padmaraju, I.; Bhargava, V.L.

    1978-01-01

    Morphological and cytogenetic study from the irradiated bone marrow, in 59 cases of radically irradiated carcinoma cervix was done. Regeneration of a marrow adjudged on cellular morphology was after 12 months whereas cytogenetic studies revealed it at the end of three months. It is concluded that cytogenetic study is a more sensitive parameter in assessing the recovery of bone marrow. (author)

  15. Cytogenetic findings in metastases from colorectal cancer

    DEFF Research Database (Denmark)

    Bardi, G; Parada, L A; Bomme, L

    1997-01-01

    Eighteen tumor samples from 11 patients with metastatic colorectal cancer were cytogenetically analyzed after short-term culturing. Of the 13 metastases examined, 11 were from lymph nodes, 1 from the peritoneum and 1 from the lung. In 5 of the 11 patients, matched samples from the primary tumor...... and lymph node metastases were analyzed. Cytogenetic similarities between the primary and secondary lesions were found in all 5 cases, indicating that many of the chromosomal aberrations presumably occurred before disease spreading took place. Compared with the primaries, the metastases appeared to exhibit...

  16. Cytogenetic activity of the coumarin glucoside seseloside

    International Nuclear Information System (INIS)

    Arshava, E.A.

    1986-01-01

    The cytogenetic effect of the coumarin glucoside seseloside on plant objects was studied. It was established that low concentrations of the preparation (from 1 x 10 -5 to 1 x 10 -3 μg/ml) inhibit both spontaneous and radiation-induced mutagenesis. The effect of high concentrations (10 and 100 μg/ml) causes a mutagenic effect

  17. Cytogenetic characterization of Taphronota thaelephora Stal. 1873 ...

    African Journals Online (AJOL)

    Taphronota thaelephora Stal. 1873 is generating a lot of interest for biological and cytogenetic studies because it has demonstrated the potential for a future veritable pest in Cameroon. The lack of previously established karyotype for the species has necessitated this study. Testes from five adult individuals collected from ...

  18. CYTOGENETICS OF A CASE OF CARDIAC MYXOMA

    NARCIS (Netherlands)

    DIJKHUIZEN, T; VANDENBERG, E; MOLENAAR, WM; MEUZELAAR, JJ; DEJONG, B

    1992-01-01

    The cytogenetic study of a case of cardiac myxoma revealed a 46,XY,der(7)t(7;17) (p21;p11),+der(10)t(10;?)(q22;?),+der(12)t(12;?)(p12;?),del(17)(p11) chromosomal pattern. This case adds a new example of chromosomal abnormalities in benign neoplasms.

  19. Cytogenetic report of a male breast cancer

    DEFF Research Database (Denmark)

    Cavalli, L R; Rogatto, S R; Rainho, C A

    1995-01-01

    The cytogenetic findings on G-banding in an infiltrating ductal breast carcinoma in a 69-year-old man are reported. The main abnormalities observed were trisomy of chromosomes 8 and 9 and structural rearrangement in the long arm of chromosome 17 (add(17)(q25)). Our results confirm the trisomy...

  20. Molecular cytogenetic identification of a wheat– Thinopyrum ...

    Indian Academy of Sciences (India)

    Thinopyrum ponticum (2n = 70) serves as a valuable gene pool for wheat improvement. Line SN0224, derived from crosses between Th. ponticum and the common wheat cultivar Yannong15, was identified in the present study. Cytogenetic observations showed that SN0224 contains 42 chromosomes in the root-tip cells ...

  1. Cytogenetics of jaw cysts - a pilot study.

    Science.gov (United States)

    Manor, Esther; Brennan, Peter A; Bodner, Lipa

    2012-07-01

    The pathogenesis of cysts that arise in the jaws is still not certain, and the underlying mechanisms of epithelial proliferation are not fully understood. Cysts of the jaw may involve a reactive, inflammatory, or neoplastic process. Cytogenetics, the study of the number and structure of chromosomes, has provided valuable information about the diagnosis, prognosis, and targeted treatment in many cancers, including oral squamous cell carcinoma. Cytogenetics can also provide information about the possible aetiology or neoplastic potential of a lesion, though to our knowledge no studies of this technique have been used for cysts in the jaws. In this pilot study we used cytogenetics in a series of 10 cysts (3 radicular, 4 dentigerous, 2 of the nasopalatine duct, and 1 dermoid). In all cases we found normal karyotypes. Further work and larger numbers are needed for a definitive study, but we can hypothesise from this pilot study that these cysts do not have cytogenetic aberrations and so have no neoplastic potential. Copyright © 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  2. Cytogenetic characterization of Eurysternus caribaeus (Coleoptera ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 88; Issue 2. Cytogenetic characterization of Eurysternus caribaeus (Coleoptera: Scarabaeidae): evidence of sex-autosome fusion and diploid number reduction prior to species dispersion. Amanda Paulino De Arcanjo Diogo Cavalcanti Cabral-De-Mello Ana Emília Barros E ...

  3. Methods in molecular biology: plant cytogenetics

    Science.gov (United States)

    Cytogenetic studies have contributed greatly to our understanding of genetics, biology, reproduction, and evolution. From early studies in basic chromosome behavior the field has expanded enabling whole genome analysis to the manipulation of chromosomes and their organization. This book covers a ran...

  4. Cytogenetic Analysis for Research and Services

    Directory of Open Access Journals (Sweden)

    Sultana MH Faradz

    2017-02-01

    Full Text Available Abstract That the correct chromosome number in man is 46 was first recognized by Tjio and Levan in 1956. Perhaps few Indonesians know that Tjio was an Indonesian scientist studying in Sweden and then living in the US. Cytogenetic analyses are commonly performed to determine both structural and numerical chromosome aberration, whilst changes in chromosomes can lead to birth defects, syndromes, or even cancer.  Several chromosomal aneuploidy syndromes were identified after the establishment of various chromosome banding techniques in late 1960’s.  Specific cell culture media was found to express fragile site in the beginning of 1970’s and since then, inherited Fragile X Mental Retardation syndrome could be diagnosed.  However, some female permutation cases have been often misdiagnosed. Further molecular analysis has resolved this problem by revealing more CGG repeats in the promoter region FMR1 gene, which is related to the expression of fragile site and the severity of the diseases. In Disorder of Sex Development (DSD, early gender assignment and reconstruction surgery has been challenged because of the dilemma of gender identity development in later life. Cytogenetic analysis for the first-line gender assignment is important in newborn with DSD. Proper diagnosis with hormonal and mutation analysis should be elucidated to avoid medical, psychological, and social aspect in adult life. The most frequent genetic cases in our clinical experiences have been Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. Female Complete Androgen Insensitivity Syndrome (CAIS with main symptom primary amenorrhea without cytogenetic analysis has often been diagnosed as inguinal hernia because of testicle location and size. Diagnosis and treatment of several leukemias and lymphomas, as well as some solid tumors, depend on cytogenetic analyses to demonstrate consistent, specific chromosomal aberrations. Chromosome analysis in hematologic

  5. Biodosimetry: Medicine, Science, and Systems to Support the Medical Decision-Maker Following a Large Scale Nuclear or Radiation Incident

    International Nuclear Information System (INIS)

    Coleman, C. Norman; Koerner, John F.

    2016-01-01

    The public health and medical response to a radiological or nuclear incident requires the capability to sort, assess, treat, triage and to ultimately discharge, refer or transport people to their next step in medical care. The size of the incident and scarcity of resources at the location of each medical decision point will determine how patients are triaged and treated. This will be a rapidly evolving situation impacting medical responders at regional, national and international levels. As capabilities, diagnostics and medical countermeasures improve, a dynamic system-based approach is needed to plan for and manage the incident, and to adapt effectively in real time. In that the concepts and terms can be unfamiliar and possibly confusing, resources and a concept of operations must be considered well in advance. An essential underlying tenet is that medical evaluation and care will be managed by health-care professionals with biodosimetry assays providing critical supporting data. (authors)

  6. Radiation-induced unrepairable DSBs: their role in the late effects of radiation and possible applications to biodosimetry.

    Science.gov (United States)

    Noda, Asao

    2017-12-21

    Although the vast majority of DNA damage induced by radiation exposure disappears rapidly, some lesions remain in the cell nucleus in very small quantities for days to months. These lesions may cause a considerable threat to an organism and include certain types of DNA double-strand breaks (DSBs) called 'unrepairable DSBs'. Unrepairable DSBs are thought to cause persistent malfunctioning of cells and tissues or cause late effects of radiation, especially the induction of delayed cell death, mutation, senescence, or carcinogenesis. Moreover, the measurement of unrepairable DSBs could potentially be used for retrospective biodosimetry or for identifying individuals at greater risk for developing the adverse effects associated with radiotherapy or chemotherapy. This review summarizes the concept of unrepairable DSBs in the context of persistent repair foci formed at DSBs. © The Author(s) 2017. Published by Oxford University Press on behalf of The Japan Radiation Research Society and Japanese Society for Radiation Oncology.

  7. Mathematical operations in cytogenetic dosimetry: Dosgen

    International Nuclear Information System (INIS)

    Garcia L, O.; Zequera J, T.

    1996-01-01

    Handling of formulas and mathematical procedures for fitting and using of dose-response relationships in cytogenetic dosimetry is often difficulted by the absence of collaborators specialized in mathematics and computation. DOSGEN program contains the main mathematical operations which are used in cytogenetic dosimetry. It is able to run in IBM compatible Pc's by non-specialized personnel.The program possibilities are: Poisson distribution fitting test for the number of aberration per cell, dose assessment for whole body irradiation, dose assessment for partial irradiation and determination of irradiated fraction. The program allows on screen visualization and printing of results. DOSGEN has been developed in turbo pascal and is 33Kb of size. (authors). 4 refs

  8. DNA hybridization sensing for cytogenetic analysis

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dapra, Johannes; Brøgger, Anna Line

    2013-01-01

    Cytogenetic analysis focuses on studying the cell structure, mainly in respect to chromosome content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders, but are also associated with heametological malignancies. Chromosome translocations...... for cheaper detection a label-free approach has been investigated using electrochemical impedance spectroscopy as a sensing method. We present here our recent results in regards to DNA sensing on metallic and conductive polymer electrodes for translocation detection. Our sensors are inexpensive and can...

  9. Comparative genomic hybridization in clinical cytogenetics

    Energy Technology Data Exchange (ETDEWEB)

    Bryndorf, T.; Kirchhoff, M.; Rose, H. [and others

    1995-11-01

    We report the results of applying comparative genomic hybridization (CGH) in a cytogenetic service laboratory for (1) determination of the origin of extra and missing chromosomal material in intricate cases of unbalanced aberrations and (2) detection of common prenatal numerical chromosome aberrations. A total of 11 fetal samples were analyzed. Seven cases of complex unbalanced aberrations that could not be identified reliably by conventional cytogenetics were successfully resolved by CGH analysis. CGH results were validated by using FISH with chromosome-specific probes. Four cases representing common prenatal numerical aberrations (trisomy 21, 18, and 13 and monosomy X) were also successfully diagnosed by CGH. We conclude that CGH is a powerful adjunct to traditional cytogenetic techniques that makes it possible to solve clinical cases of intricate unbalanced aberrations in a single hybridization. CGH may also be a useful adjunct to screen for euchromatic involvement in marker chromosomes. Further technical development may render CGH applicable for routine aberration screening. 16 refs., 4 figs., 2 tabs.

  10. Molecular cytogenetic in the familial cancers

    International Nuclear Information System (INIS)

    Cermak, M.

    2015-01-01

    The development of cancer diseases is accompanied by number of genetic changes at different levels of the genome. Some of these changes are still subject of research but others are already known in such an extent that they are associated with a specific type of malignity, the development, or treatment possibilities. The cancer genetics dispose of wide range of techniques, with reliable detection of the causal changes. Starting the molecular cytogenetics has launched a new era in diagnostics of genetic aberrations. Fluorescence in situ hybridization (FISH) definitely changed cytogenetic world from black and white to color one and set the foundation of modern investigative methods such as M-FISH, CGH, array CGH and many others. Successively all these methodologies have become a part of routine cancer diagnostics thorough the world. Actually, when much attention is given mostly to submicroscopic changes in DNA supposed as predispositions to various malignancies, the molecular cytogenetics is trying to success in competition of modern highly sensitive molecular biology methods. (author)

  11. Contributions of Cytogenetics and Molecular Cytogenetics to the Diagnosis of Adipocytic Tumors

    Directory of Open Access Journals (Sweden)

    Jun Nishio

    2011-01-01

    Full Text Available Over the last 20 years, a number of tumor-specific chromosomal translocations and associated fusion genes have been identified for mesenchymal neoplasms including adipocytic tumors. The addition of molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH, has further enhanced the sensitivity and accuracy of detecting nonrandom chromosomal translocations and/or other rearrangements in adipocytic tumors. Indeed, most resent molecular cytogenetic analysis has demonstrated a translocation t(11;16(q13;p13 that produces a C11orf95-MKL2 fusion gene in chondroid lipoma. Additionally, it is well recognized that supernumerary ring and/or giant rod chromosomes are characteristic for atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma, and amplification of 12q13–15 involving the MDM2, CDK4, and CPM genes is shown by FISH in these tumors. Moreover, myxoid/round cell liposarcoma is characterized by a translocation t(12;16(q13;p11 that fuses the DDIT3 and FUS genes. This paper provides an overview of the role of conventional cytogenetics and molecular cytogenetics in the diagnosis of adipocytic tumors.

  12. Cytogenetics And Its Relevance to the Practice of Modern Medicine ...

    African Journals Online (AJOL)

    This review outlines the importance of cytogenetics in modern medicine, the need to develop the application to the level of a full discipline in Nigeria to prevent and control these disorders and reawaken the interest of scientists and postgraduate students in this all-important discipline. Keywords: Human cytogenetics ...

  13. Antenatal cytogenetic testing in Havana, Cuba.

    Science.gov (United States)

    Méndez-Rosado, Luis A; Quiñones, Olga; Molina, Odalys; González, Nereida; del Sol, Marylin; Maceiras, Luanda; Bravo, Yomisleidy

    2014-01-01

    INTRODUCTION Antenatal cytogenetic testing was started in Havana in 1984, as a diagnostic option for fetal chromosome complement. The techniques applied are amniocyte culture, chorionic villus sampling, cordocentesis and fluorescence in situ hybridization in interphase cells. OBJECTIVE Describe the results of antenatal cytogenetic testing in the cytogenetic laboratory of the Cuba's National Medical Genetics Center in Havana, from 1984 through 2012. METHODS A retrospective descriptive study was carried out of the 22,928 pregnant women who had antenatal testing with conclusive results during the period 1984-2012. Information was obtained from laboratory databases for four antenatal diagnostic techniques. Variables studied were: antenatal diagnostic method, indications for genetic testing, type of chromosomal abnormality detected and couple's decision concerning pregnancy continuation if hereditary disease was diagnosed. Results were reported in absolute numbers and percentages. RESULTS Overall positivity was 2.8% (641 cases). Of the total, 20,565 samples were from amniocyte culture (558 positive cases, 2.7%); 1785 chorionic villus sampling (38 positive, 2.1%); 407 cord blood culture (28 positive, 6.9%); and 171 fluorescence in situ hybridization in interphase cells (17 positive, 9.9%). Advanced maternal age was the predominant indication for amniocyte culture and chorionic villus sampling. Positivity was higher for the two less frequently used methods, cordocentesis (6.9% positivity) and fluorescence in situ hybridization (9.9%). The predominant chromosomal abnormality was Down syndrome, with 45.4% of cases detected (291/641; 279 pure lines and 12 mosaic trisomies), followed by Edward syndrome with 12% (77/641, 71 pure lines and 6 mosaics) and Patau syndrome 4.7% (30/641, 27 pure lines and 3 mosaics). Sexual aneuploidy with pure lines affected 6.9% of cases (44/641) and with mosaicism 4.7% (30/641). Structural chromosomal abnormalities were detected in 22.5% of cases

  14. Cytogenetic report of a male breast cancer

    DEFF Research Database (Denmark)

    Cavalli, L R; Rogatto, S R; Rainho, C A

    1995-01-01

    of chromosome 8 in the characterization of the subtype of ductal breast carcinomas and demonstrate that chromosome 17, which is frequently involved in female breast cancers, is also responsible for the development or progression of primary breast cancers in males.......The cytogenetic findings on G-banding in an infiltrating ductal breast carcinoma in a 69-year-old man are reported. The main abnormalities observed were trisomy of chromosomes 8 and 9 and structural rearrangement in the long arm of chromosome 17 (add(17)(q25)). Our results confirm the trisomy...

  15. Cytogenetic techniques as biological indicator and dosimeter of radiation damage

    International Nuclear Information System (INIS)

    Hadjidekova, V.; Hristova, R.

    2006-01-01

    Full text: The cytogenetic methods are established techniques for bio monitoring and bio dosimetry of professionally and accidentally exposed to ionizing radiation subjects. They are applied to continue the evaluation of the physical dosimetry and to consider the individual radiosensitivity. The results of cytogenetic monitoring and dosimetry of radiation exposed subjects carried out during the last 5 years in laboratory of Radiation Genetics, NCRRP is reported. Laboratory of Radiation genetics performs cytogenetic monitoring of low dose radiation professionally or medically exposed subjects: workers in Kozloduy NPP, radioactive waste repository workers, X-rays diagnostically exposed patients, and radiotherapy exposed as well. Three cytogenetic indicators are applied as the most sensitive indicators for human radiation exposure: analysis of micronuclei (MN), chromosomal aberrations (CA) and stable translocations (FISH). The optimized methodology for application of different cytogenetic techniques for radiation estimation is discussed

  16. Biodosimetry of Chernobyl cleanup workers from Estonia and Latvia using the glycophorin A in vivo somatic cell mutation assay

    International Nuclear Information System (INIS)

    Bigbee, W.L.; Jensen, R.H.; Veidebaum, T.

    1997-01-01

    The reactor accident at Chernobyl in 1986 necessitated a massive environmental cleanup that involved over 600,000 workers from all 15 Republics of the former Soviet Union. To determine whether the whole-body radiation received by workers in the course of these decontamination activities resulted in a detectable biological response, over 1,500 blood samples were obtained from cleanup workers sent from two Baltic countries, Estonia and Latvia. Here we report the results of studies of biodosimetry using the glycophorin A (GPA) locus in vivo somatic cell mutation assay applied to 734 blood samples from these workers, to 51 control samples from unexposed Baltic populations and to 94 samples from historical U.S. controls. The data reveal inconsistent evidence that the protracted radiation exposures received by these workers resulted in a significant dose-associated increase in GPA locus mutations compared with the controls. Taken together, these data suggest that the average radiation exposure to these workers does not greatly exceed 10 cGy, the minimum levels at which radiation effects might be detectable by the assay. Although the protracted nature of the exposure may have reduced the efficiency of induction of GPA locus mutations, it is likely that the estimated physical doses for these cleanup worker populations (median reported dose 9.5 cGy) were too low to result in radiation damage to erythroid stem cells that can be detected reliably by this method. 25 refs., 2 figs., 3 tabs

  17. Standardization of CalyculinA induced PCC assay and its advantages over Okadaic acid PCC assay in Biodosimetry applications.

    Science.gov (United States)

    Nairy, Rajesha K; Yerol, Narayana; Bhat, Nagesh N; Desai, Utkarsha; Shirsath, Kapil; Yadav, Usha; K Chaurasia, Rajesh; B K, Sapra

    2016-11-29

    In the present study an attempt was made to estimate coefficients of dose response curves for PCC aberrations induced by CalyculinA and Okadaic acid, using 60 Co gamma radiation and 8 MeV pulsed electron beam for biodosimetry application. The modified method outlined by Puig et al. 2013 was used to conduct Calyculin A and Okadaic acid induced PCC assay in human blood lymphocytes.Chemical treatment was given for the last 1 h of a 48 h culture. The study was carried out in the dose range 2.5 to 20 Gy using 60 Co gamma rays and 8 MeV pulsed electron beam. Results show a linear dose dependent increase with a slope of 0.047 ± 0.001 from Calycalin A PCC and 0.048 ± 0.002 form Okadaic acid PCC. The slope of the fragments curve was 0.327 ± 0.006 from Calyculin A and 0.328 ± 0.006 from Okadaic acid PCC. Further, dose calibration studies were carried out for 8 MeV electron using Calyculin A PCC assay and the obtained slope from ring yield was 0.054 ± 0.002 and 0.427 ± 0.009 from fragment yield.

  18. Molecular cytogenetics using fluorescence in situ hybridization

    Energy Technology Data Exchange (ETDEWEB)

    Gray, J.W.; Kuo, Wen-Lin; Lucas, J.; Pinkel, D.; Weier, H-U.; Yu, Loh-Chung.

    1990-12-07

    Fluorescence in situ hybridization (FISH) with chromosome-specific probes enables several new areas of cytogenetic investigation by allowing visual determination of the presence and normality of specific genetic sequences in single metaphase or interphase cells. in this approach, termed molecular cytogenetics, the genetic loci to be analyzed are made microscopically visible in single cells using in situ hybridization with nucleic acid probes specific to these loci. To accomplish this, the DNA in the target cells is made single stranded by thermal denaturation and incubated with single-stranded, chemically modified probe under conditions where the probe will anneal only with DNA sequences to which it has high DNA sequence homology. The bound probe is then made visible by treatment with a fluorescent reagent such as fluorescein that binds to the chemical modification carried by the probe. The DNA to which the probe does not bind is made visible by staining with a dye such as propidium iodide that fluoresces at a wavelength different from that of the reagent used for probe visualization. We show in this report that probes are now available that make this technique useful for biological dosimetry, prenatal diagnosis and cancer biology. 31 refs., 3 figs.

  19. Recurrent Cytogenetic Abnormalities in Acute Myeloid Leukemia.

    Science.gov (United States)

    Yang, John J; Park, Tae Sung; Wan, Thomas S K

    2017-01-01

    The spectrum of chromosomal abnormality associated with leukemogenesis of acute myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid leukemia and other myeloid neoplasms. Recurrent chromosomal translocations such as t(8;21), t(15;17), and inv(16) are frequently detected, but hundreds of other uncommon chromosomal aberrations from AML also exist. This chapter discusses 22 chromosomal abnormalities that are common structural, numerical aberrations, and other important but infrequent (less than 1 %) translocations emphasized in the WHO classification. Brief morphologic, cytogenetic, and clinical characteristics are summarized, so as to provide a concise reference to cancer cytogenetic laboratories. Morphology based on FAB classification is used together with the current WHO classification due to frequent mentioning in a vast number of reference literatures. Characteristic chromosomal aberrations of other myeloid neoplasms such as myelodysplastic syndrome and myeloproliferative neoplasm will be discussed in separate chapters-except for certain abnormalities such as t(9;22) in de novo AML. Gene mutations detected in normal karyotype AML by cutting edge next generation sequencing technology are also briefly mentioned.

  20. A cost-effective and flexible metaphase finder system for chromosomal biodosimetry

    International Nuclear Information System (INIS)

    Furukawa, A.; Hayata, I.

    2003-01-01

    For biological dosimetry by counting chromosomes aberrations, automation technique has been required to process large number of sample preparations at low dose radiation exposure. Metaphase Finder is an automated optical microscope system, which automatically scans and finds metaphase cells on the slide glass, and relocates metaphase cells to the center of the field of view of the microscope to observe chromosomes in high magnification. There are several commercial products of metaphase finders, but these dedicated-system products are usually expensive and inconvenient for fitting to the variety of sample preparations. Now, we have constructed an improved system by assembling each components of the system, such as microscope, automated stage and computer, from the selection of the commercially available products, instead of purchasing one dedicated system. The new system has high cost-effectiveness and high flexibility in adapting to the new staining methods. This Metaphase Finder system consists of following components: an optical microscope, a motorized sample stage, an auto-focusing unit and two CCD cameras for focusing and for image acquisition. These components are controlled by a personal computer. The image recognition software for detecting metaphase cells from the microscope image was developed on the programming environment provided by the general-purpose image analysis software. The processing speed of this Metaphase Finder system is 20 to 30 minutes per one slide glass (typical scan area is 20 mm x 50 mm), which is enough acceptable for practical use and remarkably improved from the speed of our previous model of 1993. The algorithm for detecting metaphase cells has also improved to adapt to the variety of the condition of the sample preparation. This new system is scheduled to be distributed to several laboratories in Japan, and will be tested for the practical use

  1. Cytogenetic dosimetry in suspected cases of ionizing radiation occupational exposure

    International Nuclear Information System (INIS)

    Ramalho, Adriana T.; Costa, Maria Lucia P.; Oliveira, Monica S.; Silva, Francisco Cesar A. da

    2001-01-01

    Cytogenetic dosimetry is very useful in routine as well as in serious accident situations in which exposed individuals do not wear physical dosimeters. Since 1984, the technique of cytogenetic dosimetry has been used as a routine in our laboratory at IRD/CNEN to complement the data of physical dosimetry. In the period from 1984 to 2000, 138 cases of occupational overexposure of individual dosimeters were investigated by us. In total, only in 36 of the 138 cases investigated the overexposure was confirmed by cytogenetic dosimetry. The data indicates a total confirmation index of just 26% of the suspected cases.(author)

  2. Semiautomatic digital imaging system for cytogenetic analysis

    International Nuclear Information System (INIS)

    Chaubey, R.C.; Chauhan, P.C.; Bannur, S.V.; Kulgod, S.V.; Chadda, V.K.; Nigam, R.K.

    1999-08-01

    The paper describes a digital image processing system, developed indigenously at BARC for size measurement of microscopic biological objects such as cell, nucleus and micronucleus in mouse bone marrow; cytochalasin-B blocked human lymphocytes in-vitro; numerical counting and karyotyping of metaphase chromosomes of human lymphocytes. Errors in karyotyping of chromosomes by the imaging system may creep in due to lack of well-defined position of centromere or extensive bending of chromosomes, which may result due to poor quality of preparation. Good metaphase preparations are mandatory for precise and accurate analysis by the system. Additional new morphological parameters about each chromosome have to be incorporated to improve the accuracy of karyotyping. Though the experienced cytogenetisist is the final judge; however, the system assists him/her to carryout analysis much faster as compared to manual scoring. Further, experimental studies are in progress to validate different software packages developed for various cytogenetic applications. (author)

  3. Application of mammalian cytogenetics to mutagenicity studies

    International Nuclear Information System (INIS)

    Brewen, J.G.

    1977-01-01

    Studies on induction of chromosome damage in germ cells by triethylene melamine (TEM) included determination of frequencies of chromosomal aberrations observed in human leukocytes after treating different stages of the cell cycle with TEM, frequencies of chromatid aberrations in metaphase I oocytes and the female pronuclear chromosomes following treatment of female mice with TEM, and frequencies of labeled diplotene-diakinesis figures and chromosome abberations at various intervals after treatment of primary spermatocytes with TEM and 3 H-thymidine. Studies on effects of low linear energy transfer radiation on mouse oocytes showed that the frequency of aberrations increased as a function of time and remained constant 8 to 9 days post-exposure. It was concluded that cytogenetic procedures were adequate to evaluate certain mutagenic end points

  4. Cytogenetical analysis in blood lymphocytes of cigarette smokers in ...

    African Journals Online (AJOL)

    Cytogenetical analysis in blood lymphocytes of cigarette smokers in Tiruchirappalli district, Tamil Nadu, India. S. Christobher, M. Periyasamy, H.E. Syed Mohamed, A. Sadiq Bukhari, Alagamuthu Karthickkumar, Vellingiri Balachandar ...

  5. Cytogenetic, genomic in situ hybridization (GISH) and agronomic ...

    African Journals Online (AJOL)

    F3 generations of a wheat-Psathyrostachys huashanica intergeneric cross. Their agronomic traits were evaluated in the field and their meiotic behaviors and chromosome composition were analyzed by cytogenetic and GISH (genomic in situ ...

  6. Interphase fluorescence in situ hybridization analysis detects a much higher rate of thyroid tumors with clonal cytogenetic deviations of the main cytogenetic subgroups than conventional cytogenetics.

    Science.gov (United States)

    Drieschner, Norbert; Rippe, Volkhard; Laabs, Anne; Dittberner, Lea; Nimzyk, Rolf; Junker, Klaus; Rommel, Birgit; Kiefer, Yvonne; Belge, Gazanfer; Bullerdiek, Jörn; Sendt, Wolfgang

    2011-07-01

    In benign thyroid lesions, three main cytogenetic subgroups, characterized by trisomy 7 or structural aberrations involving either chromosomal region 19q13.4 or 2p21, can be distinguished by conventional cytogenetics (CC). As a rule, these aberrations seem to be mutually exclusive. Interphase fluorescence in situ hybridization (I-FISH) analysis on benign as well as malignant thyroid neoplasias has been performed in the past, but rarely in combination with CC. In the present paper, we have analyzed 161 benign thyroid lesions both with CC and I-FISH on touch preparations by using a multi-target, triple-color FISH assay as well as dual-color break-apart probes for detection of the main cytogenetic subgroups. Within the samples, I-FISH detected tumors belonging to either of the subgroups more frequently than CC (23 vs. 11.4%), either due to small subpopulations of aberrant cells or to cryptic chromosomal rearrangements (three cases). Thus, I-FISH seems to be more sensitive than CC, particularly in the detection of subpopulations of cells harboring cytogenetic aberrations that may be overlooked by CC. In summary, I-FISH on touch preparations of benign thyroid lesions seems to be a favorable method for cytogenetic subtyping of thyroid lesions. Copyright © 2011 Elsevier Inc. All rights reserved.

  7. Calculations in cytogenetic dosimetry by means of the dosgen program

    International Nuclear Information System (INIS)

    Garcia Lima, O.; Zerquera, J.T.

    1996-01-01

    The DOSGEN program sums up the different calculations routing that are more often used in cytogenetic dosimetry. It can be implemented in a compatible IBM PC by cytogenetic experts having a basic knowledge of computing. The programs has been successfully applied using experimental data and its advantages have been acknowledge by Latin American and Asian Laboratories dealing with this medical branch. The program is written in Pascal Language and requires 42 K bytes

  8. [Cytogenetics of myelodysplastic syndromes and its impact as prognostic factor].

    Science.gov (United States)

    Borjas-Gutiérrez, César; Domínguez-Cruz, Martín Daniel; González-García, Juan Ramón

    2017-01-01

    Myelodysplastic syndromes (MDS) are a group of disorders of the hematopoietic stem cell. They are characterized by cytopenia(s), dysplasia of one or more cell lines, ineffective hematopoiesis, and an increased risk for developing acute myelogenous leukemia. The classification of MDS has been complicated due to the great heterogeneity in clinical phenotype as well as in the morphological and cytogenetic characteristics. The prognostic value of cytogenetic abnormalities in MDS has been analyzed in multicenter studies. This approach raised the development of the revised International Prognostic Scoring System (IPSS-R), which analyzes five prognostic variables, among which the cytogenetic study stands out. According to the cytogenetic findings, a classification of MDS in five subgroups was developed. Knowledge of the cytogenetic abnormalities has led to the study of genes involved in various chromosomal rearrangements. Moreover, DNA sequencing has helped to identify mutations in approximately 50 genes related to signal transduction, DNA methylation, transcriptional regulation, and RNA splicing. Therefore, the cytogenetic study should be used to improve the classification and therapeutic management of MDS. This approach will be an essential tool for the development of targeted therapy protocols.

  9. Cytogenetic abnormalities in acute leukaemia of ambiguous lineage: an overview.

    Science.gov (United States)

    Manola, Kalliopi N

    2013-10-01

    Acute leukaemia of ambiguous lineage (ALAL) is a rare complex entity with heterogeneous clinical, immunophenotypic, cytogenetic and molecular genetic features and adverse outcome. According to World Health Organization 2008 classification, ALAL encompasses those leukaemias that show no clear evidence of differentiation along a single lineage. The rarity of ALAL and the lack of uniform diagnostic criteria have made it difficult to establish its cytogenetic features, although cytogenetic analysis reveals clonal chromosomal abnormalities in 59-91% of patients. This article focuses on the significance of cytogenetic analysis in ALAL supporting the importance of cytogenetic analysis in the pathogenesis, diagnosis, prognosis, follow up and treatment selection of ALAL. It reviews in detail the types of chromosomal aberrations, their molecular background, their correlation with immunophenotype and age distribution and their prognostic relevance. It also summarizes some novel chromosome aberrations that have been observed only once. Furthermore, it highlights the ongoing and future research on ALAL in the field of cytogenetics. © 2013 John Wiley & Sons Ltd.

  10. Development and Application of Camelid Molecular Cytogenetic Tools

    Science.gov (United States)

    Avila, Felipe; Das, Pranab J.; Kutzler, Michelle; Owens, Elaine; Perelman, Polina; Rubes, Jiri; Hornak, Miroslav; Johnson, Warren E.

    2014-01-01

    Cytogenetic chromosome maps offer molecular tools for genome analysis and clinical cytogenetics and are of particular importance for species with difficult karyotypes, such as camelids (2n = 74). Building on the available human–camel zoo-fluorescence in situ hybridization (FISH) data, we developed the first cytogenetic map for the alpaca (Lama pacos, LPA) genome by isolating and identifying 151 alpaca bacterial artificial chromosome (BAC) clones corresponding to 44 specific genes. The genes were mapped by FISH to 31 alpaca autosomes and the sex chromosomes; 11 chromosomes had 2 markers, which were ordered by dual-color FISH. The STS gene mapped to Xpter/Ypter, demarcating the pseudoautosomal region, whereas no markers were assigned to chromosomes 14, 21, 22, 28, and 36. The chromosome-specific markers were applied in clinical cytogenetics to identify LPA20, the major histocompatibility complex (MHC)-carrying chromosome, as a part of an autosomal translocation in a sterile male llama (Lama glama, LGL; 2n = 73,XY). FISH with LPAX BACs and LPA36 paints, as well as comparative genomic hybridization, were also used to investigate the origin of the minute chromosome, an abnormally small LPA36 in infertile female alpacas. This collection of cytogenetically mapped markers represents a new tool for camelid clinical cytogenetics and has applications for the improvement of the alpaca genome map and sequence assembly. PMID:23109720

  11. Role of DNA repair in repair of cytogenetic damages. Slowly repaired DNA injuries involved in cytogenetic damages repair

    International Nuclear Information System (INIS)

    Zaichkina, S.I.; Rozanova, O.M.; Aptikaev, G.F.; Ganassi, E.Eh.

    1989-01-01

    Caffeine was used to study the kinetics of cytogenetic damages repair in Chinese hamster fibroblasts. Its half-time (90 min) was shown to correlate with that of repair of slowly repaired DNA damages. The caffeine-induced increase in the number of irreparable DNA damages, attributed to inhibition of double-strand break repair, is in a quantitative correlation with the effect of the cytogenetic damage modification

  12. Biodosimetry for high dose accidental exposures by drug induced premature chromosome condensation (PCC) assay.

    Science.gov (United States)

    Balakrishnan, Sreedevi; Shirsath, Kapil; Bhat, Nagesh; Anjaria, Kshiti

    2010-06-17

    cases of acute radiation exposures. The automated finding of PCC spreads significantly increased the speed of scoring PCC fragments. Copyright 2010 Elsevier B.V. All rights reserved.

  13. Molecular genetics and cytogenetics of myeloproliferative disorders.

    Science.gov (United States)

    Bench, A J; Nacheva, E P; Champion, K M; Green, A R

    1998-12-01

    The myeloproliferative disorders are believed to represent clonal malignancies resulting from transformation of a pluripotent stem cell. X-inactivation patterns of peripheral blood cells have been proposed as a useful diagnostic tool but this method is limited by the finding of a clonal X-inactivation pattern in a significant proportion of normal elderly women. There is no pathognomonic chromosomal abnormality associated with the myeloproliferative disorders. However, consistent acquired cytogenetic changes include del(20q), del(13q), trisomy 8 and 9 and duplication of segments of 1q, all of which have been observed at diagnosis or before cytoreductive therapy and therefore represent early lesions which contribute to the pathogenesis of these disorders. Although, the acquired molecular defects underlying most myeloproliferative disorders have not yet been elucidated, translocations associated with the rare 8p11 syndrome have permitted identification of a novel fusion protein. The role of a number of candidate genes in the other myeloproliferative disorders has also been studied, but no mutations have been identified so far. It is likely that a number of genes will be involved, given the varied phenotypes of the diseases. Identification of causal genes will be of considerable interest to both clinicians, who currently lack a specific and sensitive diagnostic test, and scientists interested in fundamental issues of stem cell behaviour.

  14. Cytogenetic and molecular study in intersex

    African Journals Online (AJOL)

    Soheir S. Abou El Ella

    2012-07-06

    ). [12]. e. Automated DNA sequencing [13]. And lastly genetic counseling was done to all families in or- der to prevent, avoid or ameliorate the disorder [14]. 3. Results. The results of this study were illustrated in Tables 1–5 and.

  15. Automatic Detection of Mitosis and Nuclei From Cytogenetic Images by CellProfiler Software for Mitotic Index Estimation.

    Science.gov (United States)

    González, Jorge Ernesto; Radl, Analía; Romero, Ivonne; Barquinero, Joan Francesc; García, Omar; Di Giorgio, Marina

    2016-12-01

    Mitotic Index (MI) estimation expressed as percentage of mitosis plays an important role as quality control endpoint. To this end, MI is applied to check the lot of media and reagents to be used throughout the assay and also to check cellular viability after blood sample shipping, indicating satisfactory/unsatisfactory conditions for the progression of cell culture. The objective of this paper was to apply the CellProfiler open-source software for automatic detection of mitotic and nuclei figures from digitized images of cultured human lymphocytes for MI assessment, and to compare its performance to that performed through semi-automatic and visual detection. Lymphocytes were irradiated and cultured for mitosis detection. Sets of images from cultures were analyzed visually and findings were compared with those using CellProfiler software. The CellProfiler pipeline includes the detection of nuclei and mitosis with 80% sensitivity and more than 99% specificity. We conclude that CellProfiler is a reliable tool for counting mitosis and nuclei from cytogenetic images, saves considerable time compared to manual operation and reduces the variability derived from the scoring criteria of different scorers. The CellProfiler automated pipeline achieves good agreement with visual counting workflow, i.e. it allows fully automated mitotic and nuclei scoring in cytogenetic images yielding reliable information with minimal user intervention. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  16. Automatic Detection of Mitosis and Nuclei from Cytogenetic Images by CellProfiler Software for Mitotic Index Estimation

    International Nuclear Information System (INIS)

    Gonzalez, Jorge Ernesto; Romero, Ivonne; Garcia, Omar; Radl, Analia; Di Giorgio, Marina; Barquinero, Joan Francesc

    2016-01-01

    Mitotic Index (MI) estimation expressed as percentage of mitosis plays an important role as quality control endpoint. To this end, MI is applied to check the lot of media and reagents to be used throughout the assay and also to check cellular viability after blood sample shipping, indicating satisfactory/unsatisfactory conditions for the progression of cell culture. The objective of this paper was to apply the CellProfiler open-source software for automatic detection of mitotic and nuclei figures from digitized images of cultured human lymphocytes for MI assessment, and to compare its performance to that performed through semi-automatic and visual detection. Lymphocytes were irradiated and cultured for mitosis detection. Sets of images from cultures were analyzed visually and findings were compared with those using CellProfiler software. The CellProfiler pipeline includes the detection of nuclei and mitosis with 80% sensitivity and more than 99% specificity. We conclude that CellProfiler is a reliable tool for counting mitosis and nuclei from cytogenetic images, saves considerable time compared to manual operation and reduces the variability derived from the scoring criteria of different scorers. The CellProfiler automated pipeline achieves good agreement with visual counting workflow, i.e. it allows fully automated mitotic and nuclei scoring in cytogenetic images yielding reliable information with minimal user intervention. (authors)

  17. Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

    DEFF Research Database (Denmark)

    Bisgaard, Anne-Marie; Kirchhoff, Maria; Nielsen, Jens Erik

    2007-01-01

    Knowing the origin of cytogenetic abnormalities detected in individuals with mental retardation and dysmorphic features is essential to genetic counselling of affected families. To illustrate this, we report on six families with transmitted cytogenetic abnormalities and discuss the genotype...

  18. Cytogenetic characterization of Hypostomus nigromaculatus (Siluriformes: Loricariidae

    Directory of Open Access Journals (Sweden)

    Marceléia Rubert

    Full Text Available Hypostomus is the most speciose genus in the family Loricariidae, with approximately 120 species. These fish show a wide morphological and color variation, which hinders the identification of species, mainly of widely distributed representatives. The aim of this study was to contribute to the current knowledge on cytogenetic features of Hypostomus nigromaculatus. Three specimens of H. nigromaculatus, collected in two tributaries of rio Tibagi, Paraná, and in Cachoeira de Emas, rio Mogi-Guaçu, São Paulo, the latter being the type locality of H. nigromaculatus, were studied. Chromosomal preparations were submitted to Giemsa staining, silver nitrate impregnation, C-banding and CMA3 and DAPI fluorochromes staining. All samples presented 2n = 76, but the rio Mogi-Guaçu sample differed from those from tributaries of rio Tibagi in relation to karyotype formulae, distribution and composition of heterochromatin, and NOR location. The silver nitrate staining revealed the presence of multiple Ag-NORs for all samples, but with differences on the location on chromosomes. CMA3 staining reveled bright signals equivalent to NOR-bearing chromosomal segments; such sites were characterized by negative, i.e. unstained, marks after DAPI staining. The pattern of heterochromatin distribution was distinctive among samples from rio Mogi-Guaçu and tributaries of rio Tibagi. The differences observed between the sample from rio Mogi-Guaçu and the ones from tributaries of rio Tibagi allow us to suggest that these samples are presently isolated. Further analyses are necessary to ascertain whether such isolation refers to distinct populations or characterizes true different species.

  19. Library Automation

    OpenAIRE

    Dhakne, B. N.; Giri, V. V; Waghmode, S. S.

    2010-01-01

    New technologies library provides several new materials, media and mode of storing and communicating the information. Library Automation reduces the drudgery of repeated manual efforts in library routine. By use of library automation collection, Storage, Administration, Processing, Preservation and communication etc.

  20. Role of cytogenetic techniques in biological dosimetry of absorbed radiation

    International Nuclear Information System (INIS)

    Rao, B.S.

    2016-01-01

    In most of the radiation accidents, physical dosimetric information is rarely available. Further, most of the accidental exposures are non-uniform involving either partial body or localized exposure to significant doses. In such situations, physical dosimetry does not provide reliable dose estimate. It has now been realized that biological dosimetric techniques can play an important role in the assessment of absorbed dose. In recent years, a number of biological indicators of radiation have been identified. These include the kinetics of onset and persistence of prodromal syndromes (radiation sickness), cytogenetic changes in peripheral blood lymphocytes, hematological changes, biochemical indicators, ESR spectroscopy of biological samples, induction of gene mutations in red blood cells, cytogenetic and physiological changes in skin and neurophysiological changes. In general, dosimetric information is derived by a combination of several different methods, as they have potential to serve as prognostic indicators. The role of cytogenetic techniques in peripheral blood lymphocytes (PBL) as biological indicators of absorbed radiation is reviewed here

  1. Cytogenetic abnormalities in Tunisian women with premature ovarian failure.

    Science.gov (United States)

    Ayed, Wiem; Amouri, Ahlem; Hammami, Wajih; Kilani, Olfa; Turki, Zinet; Harzallah, Fatma; Bouayed-Abdelmoula, Nouha; Chemkhi, Imen; Zhioua, Fethi; Slama, Claude Ben

    2014-12-01

    To identify the distribution of chromosome abnormalities among Tunisian women with premature ovarian failure (POF) referred to the department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia), standard cytogenetic analysis was carried out in a total of 100 women younger than 40 affected with premature ovarian failure. We identified 18 chromosomal abnormalities, including seven X-numerical anomalies in mosaic and non-mosaic state (45,X; 47,XXX), four sex reversal, three X-structural abnormalities (terminal deletion and isochromosomes), one autosomal translocation and one supernumerary marker. The overall prevalence of chromosomal abnormalities was 18% in our cohort. X chromosome aneuploidy was the most frequent aberration. This finding confirms the essential role of X chromosome in ovarian function and underlies the importance of cytogenetic investigations in the routine management of POF. Copyright © 2014 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  2. Cytogenetic analysis after evaluation of 750 fetal deaths : proposal for diagnostic workup

    NARCIS (Netherlands)

    Korteweg, Fleurisca J.; Bouman, Katelijne; Erwich, Jan Jaap H. M.; Timmer, Albertus; Veeger, Nic J. G. M.; Ravise, Joke M.; Nijman, Thomas H.; Holm, Andjozien P.

    OBJECTIVE: To estimate success rates for cytogenetic analysis in different tissues after intrauterine fetal death, and study selection criteria and value of cytogenetic testing in determining cause of death. METHODS: Cytogenetic analyses and the value of this test in determining cause by a

  3. 75 FR 32484 - Array-Based Cytogenetic Tests: Questions on Performance Evaluation, Result Reporting and...

    Science.gov (United States)

    2010-06-08

    ...] Array-Based Cytogenetic Tests: Questions on Performance Evaluation, Result Reporting and Interpretation... public meeting: Array-Based Cytogenetic Tests: Questions on Performance Evaluation, Result Reporting and... cytogenetic tests. Date and Time: The meeting will be held on June 30, 2010, from 1:30 p.m. to 5 p.m. Location...

  4. Cytogenetic profile of aplastic anaemia in Indian children.

    Science.gov (United States)

    Gupta, Vineeta; Kumar, Akash; Saini, Isha; Saxena, Ajit Kumar

    2013-03-01

    Aplastic anaemia is a rare haematological disorder characterized by pancytopenia with a hypocellular bone marrow. It may be inherited/genetic or acquired. Acquired aplastic anaemia has been linked to many drugs, chemicals and viruses. Cytogenetic abnormalities have been reported infrequently with acquired aplastic anaemia. Majority of the studies are in adult patients from the West. We report here cytogenetic studies on paediatric patients with acquired aplastic anaemia seen in a tertiary care hospital in north India. Patients (n=71, age 4-14 yr) were diagnosed according to the guidelines of International Agranulocytosis and Aplastic Anaemia Study. Conventional cytogenetics with Giemsa Trypsin Giemsa (GTG) banding was performed. Karyotyping was done according to the International System for Human Cytogenetics Nomenclature (ISCN). Of the 71 patients, 42 had successful karyotyping where median age was 9 yr; of these 42, 27 (64.3%) patients had severe, nine (21.4%) had very severe and six (14.3%) had non severe aplastic anaemia. Five patients had karyotypic abnormalities with trisomy 12 (1), trisomy 8 (1) and monosomy 7 (1). Two patients had non numerical abnormalities with del 7 q - and t (5:12) in one each. Twenty nine patients had uninformative results. There was no difference in the clinical and haematological profile of patients with normal versus abnormal cytogenetics although the number of patients was small in the two groups. Five (11.9%) patients with acquired aplastic anaemia had chromosomal abnormalities. Trisomy was found to be the commonest abnormality. Cytogenetic abnormalities may be significant in acquired aplastic anaemia although further studies on a large sample are required to confirm the findings.

  5. Cytogenetic study is not essential in patients with aplastic anemia.

    Science.gov (United States)

    Dutta, Atreyee; De, Rajib; Dolai, Tuphan K; Mitra, Pradip K; Halder, Ajanta

    2017-01-01

    Depending on contemporary treatment approach of aggressive immunosuppression, Aplastic Anemia (AA) is caused by immunological destruction of otherwise normal hematopoietic stem cells. The aim was to summarize the cytogenetic abnormalities in AA patients and the frequency of Fanconi Anemia (FA) in morphologically normal AA patients in eastern India. Ethical clearances were obtained from both institutions involved in this study. Out of 72800 patients attending the outpatient department, 520 pancytopenia patients were screened for AA after Bone marrow (BM) aspiration and biopsy. Samples were collected from 117 cases in 3 phases. 51 peripheral venous blood (PVB) samples in the first phase, 19 BM & PVB paired samples in the second phase and 47 BM samples in third phase were collected followed by leukocyte and/or BM stem cell culture. Next GTG banding and karyotyping were performed. PVB was collected from 63 (cytogenetics was done to diagnose FA. In the first phase of the study, out of 51 PVB samples, 1 (1.96%) showed a unique chromosomal abnormality, i.e. 45,XY,rob(14:21)(p10:q10)[20]. In the second phase of study, among 19 BM & PVB paired samples, 1 (5.26%) showed abnormal karyotype i.e. 45,X,-Y[3]/46,XY[47]. In the third phase of the study, 47 BM samples showed normal karyotype. Only 6 (9.52%) cases were found positive for stress cytogenetics. A negligible percentage showing cytogenetic abnormality in such a considerable number of AA cases indicates that routine cytogenetic analysis of AA patient is not essential. A significant percentage was positive for stress cytogenetics; suggestive for FA, even the patients were morphologically normal.

  6. Cytogenetic studies in workers with chronic occupational radiation exposure

    International Nuclear Information System (INIS)

    Grynszpan, D.

    1989-01-01

    The technique of chromosomal aberration detection on peripheral lymphocytes blood samples from monazite industry workers was used to study the cytogenetic effect of low chronic radiation doses. Cells from 51 workers and 21 controls were analysed. Cytogenetic data from individuals from different working areas were statistically compared among themselves and with the control group. The possible correlations between chromosomal aberration frequencies and cumulative external dose and working time were investigated. The influence of smoking was also tested. The link to the wives spontaneous abortions was analysed. Our results indicate possible biological effects on this sample of workers. (author)

  7. Process automation

    International Nuclear Information System (INIS)

    Moser, D.R.

    1986-01-01

    Process automation technology has been pursued in the chemical processing industries and to a very limited extent in nuclear fuel reprocessing. Its effective use has been restricted in the past by the lack of diverse and reliable process instrumentation and the unavailability of sophisticated software designed for process control. The Integrated Equipment Test (IET) facility was developed by the Consolidated Fuel Reprocessing Program (CFRP) in part to demonstrate new concepts for control of advanced nuclear fuel reprocessing plants. A demonstration of fuel reprocessing equipment automation using advanced instrumentation and a modern, microprocessor-based control system is nearing completion in the facility. This facility provides for the synergistic testing of all chemical process features of a prototypical fuel reprocessing plant that can be attained with unirradiated uranium-bearing feed materials. The unique equipment and mission of the IET facility make it an ideal test bed for automation studies. This effort will provide for the demonstration of the plant automation concept and for the development of techniques for similar applications in a full-scale plant. A set of preliminary recommendations for implementing process automation has been compiled. Some of these concepts are not generally recognized or accepted. The automation work now under way in the IET facility should be useful to others in helping avoid costly mistakes because of the underutilization or misapplication of process automation. 6 figs

  8. A comprehensive cytogenetic classification of 1466 Chinese patients with de novo acute lymphoblastic leukemia.

    Science.gov (United States)

    Li, Xin; Li, Juan; Hu, Yanjie; Xie, Wei; Du, Wen; Liu, Wei; Li, Xiaoqing; Chen, Xiangjun; Li, Hongrui; Wang, Junfeng; Zhang, Lannan; Huang, Shiang

    2012-06-01

    Cytogenetics and molecular cytogenetics of 1466 Chinese patients with de novo acute lymphoblastic leukemia (ALL) were studied. Cytogenetic results were available in 1175 patients. Cross-correlations of 23 subclasses of cytogenetic abnormalities were described. Childhood cases had higher incidences of normal karyotype, t(1;19), +8, 12q-, +21, +22 and high hyperdiploidy with 51-65 chromosomes, and lower incidences of t(9;22) and -5/5q- than adult ones (all pcytogenetic subclasses with immunophenotyping subgroups of ALL were studied. Our study presents the cytogenetic characteristics of a large series of Chinese ALL patients. Copyright © 2011 Elsevier Ltd. All rights reserved.

  9. Variation in important pasture grasses. II. Cytogenetic and ...

    African Journals Online (AJOL)

    Variation in important pasture grasses. II. Cytogenetic and reproductive variation. Spies J.J., Gibbs Russell G.E.. Abstract. The chromosome numbers and reproductive variation of seven important pasture grasses from South Africa are compared. This comparison indicates that all these species form polyploid complexes, ...

  10. Cytogenetic characterization of cat eye syndrome marker chromosome.

    Science.gov (United States)

    Wenger, S L; Surti, U; Nwokoro, N A; Steele, M W

    1994-01-01

    Cat eye syndrome is associated with a partial tetrasomy 22q and can be inherited. The authors have evaluated the marker chromosome in a proband and his mother by cytogenetic banding techniques to verify the dicentric chromosomal rearrangement and by fluorescence in situ hybridization to confirm the involvement of 22. The mother also had an affected offspring with an unrelated aneuploidy, trisomy 21.

  11. Comparative cytogenetic analysis of four species of Dendropsophus ...

    Indian Academy of Sciences (India)

    IGOR SOARES

    L. F. K., Lima A. M. X. et al. 2011 Comparative cytogenetics of eight species of Cycloramphus (Anura, Cycloramphidae). Zool. Anz. 250, 205–214. Pyron R. A. and Wiens J. J. 2011 A large-scale phylogeny of. Amphibia including over 2800 species, and a revised classifi- cation of extant frogs, salamanders, and caecilians.

  12. Cytogenetic analysis and occupational health in the Czech Republic

    Czech Academy of Sciences Publication Activity Database

    Šrám, Radim; Rössner, P.; Šmerhovský, Zdeněk

    2004-01-01

    Roč. 566, č. 1 (2004), s. 21-48 ISSN 1383-5742 Institutional research plan: CEZ:AV0Z5039906 Keywords : cytogenetic analysis * occupational exposure Subject RIV: DN - Health Impact of the Environment Quality Impact factor: 3.667, year: 2004

  13. Cytogenetic and molecular analysis of cellular atypical mesoblastic nephroma

    NARCIS (Netherlands)

    Speleman, F.; van den Berg, E.; Dhooge, C.; Oosterhuis, W.; Redeker, B.; de Potter, C. R.; Tamminga, R. Y.; van Roy, N.; Mannens, M.

    1998-01-01

    Cytogenetic and molecular analyses were performed on three cellular (atypical) congenital mesoblastic nephromas (CMNs). Two cases had trisomy 11; in one, it was the sole karyotypic abnormality, and the other had additional numerical changes as well as an isochromosome for the long arm of chromosome

  14. Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia.

    Science.gov (United States)

    Patnaik, M M; Tefferi, A

    2016-02-05

    Chronic myelomonocytic leukemia (CMML) is a clonal stem cell disorder associated with peripheral blood monocytosis and an inherent tendency to transform to acute myeloid leukemia. CMML has overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms. Clonal cytogenetic changes are seen in ~30%, whereas gene mutations are seen in >90% of patients. Common cytogenetic abnormalities include; trisomy 8, -Y, -7/del(7q), trisomy 21 and del(20q), with the Mayo-French risk stratification effectively risk stratifying patients based on cytogenetic abnormalities. Gene mutations frequently involve epigenetic regulators (TET2 ~60%), modulators of chromatin (ASXL1 ~40%), spliceosome components (SRSF2 ~50%), transcription factors (RUNX1 ~15%) and signal pathways (RAS ~30%, CBL ~15%). Of these, thus far, only nonsense and frameshift ASXL1 mutations have been shown to negatively impact overall survival. This has resulted in the development of contemporary, molecularly integrated (inclusive of ASXL1 mutations) CMML prognostic models, including Molecular Mayo Model and the Groupe Français des Myélodysplasies model. Better understanding of the prevalent genetic and epigenetic dysregulation has resulted in emerging targeted treatment options for some patients. The development of an integrated (cytogenetic and molecular) prognostic model along with CMML-specific response assessment criteria are much needed future goals.

  15. Cytogenetic and molecular analysis of cellular atypical mesoblastic nephroma

    NARCIS (Netherlands)

    Speleman, F; van den Berg, E; Dhooge, C; Oosterhuis, W; Redeker, B; De Potter, CR; Tamminga, RYJ; Van Roy, N; Mannens, M

    Cytogenetic and molecular analyses were performed on three cellular (atypical) congenital mesoblastic nephromas (CMNs). Two cases had trisomy 11; in one, it was the sole karyotypic abnormality, and the other had additional numerical changes as well as an isochromosome for the long arm of chromosome

  16. Molecular cytogenetic identification of a novel dwarf wheat line with ...

    Indian Academy of Sciences (India)

    2012-01-08

    Jan 8, 2012 ... 2State Key Laboratory of Plant Cell and Chromosome Engineering, Institute of. Genetics and ... [Chen G, Zheng Q, Bao Y, Liu S, Wang H and Li X 2012 Molecular cytogenetic identification of a novel dwarf wheat line with introgressed. Thinopyrum ..... tance to diseases and pests: Current status. Eyphytica 91 ...

  17. Cytogenetics of testicular germ cell tumors of adults

    NARCIS (Netherlands)

    van Echten, J; de Jong, B

    1998-01-01

    In this article, not intended to be a review of the literature, we present our view about the oncogenesis, pathogenesis and tumor progression of testicular germ cell tumors of adults. This view is based on our cytogenetic analyses df primary testicular germ cell tumors (seminomas and non-seminomas),

  18. A molecular cytogenetic analysis of introgression in Alstroemeria

    NARCIS (Netherlands)

    Kamstra, S.A.

    1999-01-01

    This thesis describes the results of a molecular cytogenetic investigation of the process of introgression in Alstroemeria . The aim of this study was to transfer chromosomes or genes from one Alstroemeria species into another. For this, two

  19. Molecular cytogenetic characterization of a new wheat Secale ...

    Indian Academy of Sciences (India)

    A stable, highly fertile wheat Secale africanum substitution line LF24, derived from the F7 generation of a cross between Mianyang11 (MY11) and Triticum durum, S. africanum amphiploid (YF) was identified through molecular cytogenetic analysis. Application of C-banding, in situ hybridization and molecular markers ...

  20. Cytogenetic studies on some Nigerian species of Solanum L ...

    African Journals Online (AJOL)

    Cytogenetic studies to determine the chromosome number, structure and behaviour of some species of Solanum in Nigeria were carried out. Attempt was also made to induce polyploidy in the species. Comparative analysis of the cytological behaviour of the diploid and polyploid cytotypes was made. The studies show that ...

  1. Cytogenetic studies of the blood (M111), part A

    Science.gov (United States)

    Lockhart, L. H.

    1973-01-01

    The cytogenetic study of the crew appears to indicate that Skylab-type environmental conditions have no deleterious effect upon chromosomal material. The findings are, however, less clear-cut than might be desired, due in large measure to confounding of the experimental design by the administration of isotope injections for the purposes of other experiments and to the lack of control subjects.

  2. Cytogenetic studies of 19 meningiomas and their clinical significance. I

    DEFF Research Database (Denmark)

    Poulsgård, L; Rønne, M; Schrøder, H D

    1989-01-01

    Cytogenetic analysis of 19 meningiomas from 10 female and 9 male patients are reported. Chromosomal abnormalities were found in all cases with a stemline karyotype 45, XY, -22 or 45, XX, -22. Three of these had additional sidelines: (a) 44, XX, -1, -4, -6, -8, -22, +19, +del(1) (:p33----q43), +dup...

  3. Cytogenetic profile of aplastic anaemia in Indian children

    Directory of Open Access Journals (Sweden)

    Vineeta Gupta

    2013-01-01

    Interpretation & conclusions: Five (11.9% patients with acquired aplastic anaemia had chromosomal abnormalities. Trisomy was found to be the commonest abnormality. Cytogenetic abnormalities may be significant in acquired aplastic anaemia although further studies on a large sample are required to confirm the findings.

  4. Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia

    International Nuclear Information System (INIS)

    Patnaik, M M; Tefferi, A

    2016-01-01

    Chronic myelomonocytic leukemia (CMML) is a clonal stem cell disorder associated with peripheral blood monocytosis and an inherent tendency to transform to acute myeloid leukemia. CMML has overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms. Clonal cytogenetic changes are seen in ~30%, whereas gene mutations are seen in >90% of patients. Common cytogenetic abnormalities include; trisomy 8, -Y, -7/del(7q), trisomy 21 and del(20q), with the Mayo–French risk stratification effectively risk stratifying patients based on cytogenetic abnormalities. Gene mutations frequently involve epigenetic regulators (TET2 ~60%), modulators of chromatin (ASXL1 ~40%), spliceosome components (SRSF2 ~50%), transcription factors (RUNX1 ~15%) and signal pathways (RAS ~30%, CBL ~15%). Of these, thus far, only nonsense and frameshift ASXL1 mutations have been shown to negatively impact overall survival. This has resulted in the development of contemporary, molecularly integrated (inclusive of ASXL1 mutations) CMML prognostic models, including Molecular Mayo Model and the Groupe Français des Myélodysplasies model. Better understanding of the prevalent genetic and epigenetic dysregulation has resulted in emerging targeted treatment options for some patients. The development of an integrated (cytogenetic and molecular) prognostic model along with CMML-specific response assessment criteria are much needed future goals

  5. Nanoscaled biological gated field effect transistors for cytogenetic analysis

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Andersen, Karsten Brandt

    2014-01-01

    Cytogenetic analysis is the study of chromosome structure and function, and is often used in cancer diagnosis, as many chromosome abnormalities are linked to the onset of cancer. A novel label free detection method for chromosomal translocation analysis using nanoscaled field effect transistors...

  6. Cytogenetic studies of 11 meningiomas and their clinical significance. II

    DEFF Research Database (Denmark)

    Poulsgård, L; Schrøder, H D; Rønne, M

    1990-01-01

    Cytogenetic analyses of 11 consecutive cases of meningiomas from 7 female and 4 male patients are reported. Chromosomal abnormalities were found in all cases. Only two of the cases showed cells with normal karyotype in addition to the abnormal stemline. Two of the cases displayed a more aggressive...

  7. Notes on the cytogenetics of some South African Xiphinema species ...

    African Journals Online (AJOL)

    The cytogenetics of several South African species of Xiphinemawere studied and compared with the existing data for this genus from Europe. The process of oogenesis appears to be very similar in all species studied, with little interspecific and intraspecific differences. The ovaries of the South African specimens are larger, ...

  8. Cytogenetic studies of three triazine herbicides. I. In vitro studies

    Science.gov (United States)

    Atrazine, simazine, and cyanazine are widely used pre-emergence and post-emergence triazine herbicides that have made their way into the potable water supply of many agricultural communities. Because of this and the prevalence of contradictory cytogenetic studies in the literatur...

  9. Notes on the cytogenetics of some South African Xiphinema species ...

    African Journals Online (AJOL)

    1988-03-31

    Mar 31, 1988 ... The cytogenetics of several South African species of Xiphinema were studied and compared with the existing data for this genus from Europe. The process of oogenesis appears to be very similar in all species studied, with little interspecific and intraspecific differences. The ovaries of the South African ...

  10. Cytogenetics in medical practice | Nelson | South African Medical ...

    African Journals Online (AJOL)

    A cytogenetics and tissue culture laboratory is an essential component of a medical genetics department. Chromosome analysis provides a definite answer in many cases where clinical diagnosis is in doubt, and supplies information on which counselling may be based. Cultured cells from different body tissues may be the ...

  11. CYTOGENETIC STUDY OF FOUR SPECIES OF LAND SNAILS OF ...

    African Journals Online (AJOL)

    The chromosomal study of the four species of achatinid snails was carried out with the aim of determining their chromosome numbers as part of a preliminary attempt to understand the cytogenetics of land snails of Nigeria. The haploid chromosomes of various species of snails studied were obtained from their ovotestis ...

  12. Distinct classical and molecular cytogenetics of Astyanax marionae ...

    Indian Academy of Sciences (India)

    DIOVANI PISCOR

    2017-08-24

    Aug 24, 2017 ... DOI 10.1007/s12041-017-0813-8. RESEARCH ARTICLE. Distinct classical and molecular cytogenetics of Astyanax marionae ... 1Laboratório de Citogenética, Departamento de Biologia, Instituto de Biociências, Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Av. 24A, 1515, 13506-900, ...

  13. Comparative cytogenetic analysis of four species of Dendropsophus ...

    Indian Academy of Sciences (India)

    IGOR SOARES

    1Laboratório de História Natural de Anfíbios Brasileiros, Instituto de Biologia, Universidade Estadual de Campinas,. 13083-862, Campinas, SP, Brazil. 2Departamento de Biologia, Universidade Estadual do Paraná, Campus União da Vitória, 84600-000, ... Chromosome preparations, classical and molecular cytogenetic.

  14. Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First ...

    African Journals Online (AJOL)

    Tahir M. Malla

    2015-07-14

    Jul 14, 2015 ... Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir. Tahir M. Malla, Arshad A. Pandith, Fayaz A. Dar, Mahrukh H. Zargar *. Advanced Centre for Human Genetics, Sher-i-Kashmir Institute of Medical Sciences, Srinagar 190011, India. Received 5 June 2015; accepted 18 ...

  15. Automated External Defibrillator

    Science.gov (United States)

    ... To Health Topics / Automated External Defibrillator Automated External Defibrillator Also known as What Is An automated external ... in survival. Training To Use an Automated External Defibrillator Learning how to use an AED and taking ...

  16. Karyotype and molecular cytogenetic studies in polycythemia vera.

    Science.gov (United States)

    Andrieux, Joris Loup; Demory, Jean Loup

    2005-05-01

    A minority of patients with newly diagnosed polycythemia vera (PV) have an abnormal karyotype in their myeloid cells but no invariant chromosomal aberration has been found. The most frequent visible alteration is a 20q deletion, also characterized in other myeloproliferative diseases (MPD) and myeloid malignancies; among other chromosomal changes, trisomy 9 appears more common in PV than in other MPDs. When a myelofibrosis complicates the course of the disease, cytogenetic anomalies become quite common with a striking frequency of partial duplication 1q; an evolution towards myelodysplasia or acute leukemia is almost always associated with nonspecific chromosomal aberrations. Modern cytogenetic methods have disclosed cryptic anomalies and pointed out the high frequency of 9p alterations affecting a restricted region, thus stimulating an active search for candidate genes or specific mutations.

  17. Radiation-induced malignant tumours: a specific cytogenetic profile?

    International Nuclear Information System (INIS)

    Chauveinc, L.; Gaboriaux, G.; Dutrillaux, A. M.; Dutrillaux, B.; Chauveinc, L.; Ricoul, M.; Sabatier, L.; Dutrillaux, B.

    1997-01-01

    To date, there is no criterion enabling to determine the spontaneous or radio-induced origin of malignant tumour occurring in a previously irradiated patient. Biological studies are rare. The cytogenetic data which could be found in the literature for eleven radio-induced tumours suggest that aneuploidies and polyclonality are frequent events. We studied, by R-Banding cytogenetic technique, five patients with short-term cultures (3 cases), short and long-term cultures (1 case) and xeno-grafting on nude pattern a high rate of balanced translocations, numerous random break points and a polyclonal evolution (10 clones). All other tumours, including the xeno-grafting sarcoma, had a monoclonal profile with complex karyotypes, hypo-diploid formulas and many deletions. These results show that the mechanism of radiation-induced tumours frequently involves chromosomes losses and deletions. The most likely explanation is that these alterations unmask radiation induced recessive mutations of tumour suppressor genes. (authors)

  18. Cytogenetic effects of in vitro irradiation of human spermatozoa

    International Nuclear Information System (INIS)

    Miro, R.; Genesca, A.; Alvarez, R.; Tusell, L.; Ponsa, I.

    1997-01-01

    The effects of human mutagens, clastogens and aneugens have been studied almost exclusively in somatic tissues. However, currently there is a considerable discussion about the potential of ionizing radiation to induce heritable germ cell mutations. While the various viewpoints remain controversial. One of the aims of germ cell cytogenetic studies must be to improve the ability to identify and estimate the actual genetic risk in humans. One way to assess the risk of transmission of genetic anomalies by men occupationally or accidentally exposed to ionizing radiation is to determine whether there is a dose-related genetic damage in human spermatozoa. Cytogenetic analysis of human spermatozoa is possible after interspecific in vitro fertilization between zona pellucida-free hamster oocytes and human spermatozoa. Using this assay system we have analyzed the radiation induction of structural chromosome abnormalities in sperm derived complements at the first embryo cleavage, as well as the radiation induction of micronuclei and aneuploidy in two-cell hybrid embryos. (author)

  19. Cytogenetic effects in adolescents from different areas of Kemerovskaya oblast'

    International Nuclear Information System (INIS)

    Druzhinin, V.G.; Lifanov, A.Y.; Golovina, T.A.

    1995-01-01

    Considerable variations in the frequency of spontaneous chromosomal aberrations were revealed during a cytogenetic study of two groups of adolescents from ecologically different areas of Kemerovskaya oblast'. In a sample of adolescents living in an industrial center (the Kemerovo city), this parameter (1.4±0.37%) did not exceed the population average value, whereas adolescents of the same age from a mountain region with sparse industry (the town of Tashtagol) exhibited, on average, a frequency of 5.87±0.62%. An increased proportion of chromosomal-type aberrations in the qualitative spectrum of cytogenetic damage, which was observed for the group of adolescents from Tashtagol, suggests that this population was exposed to radiation. 13 refS., 1 fig., 3 tabs

  20. Library Automation.

    Science.gov (United States)

    Husby, Ole

    1990-01-01

    The challenges and potential benefits of automating university libraries are reviewed, with special attention given to cooperative systems. Aspects discussed include database size, the role of the university computer center, storage modes, multi-institutional systems, resource sharing, cooperative system management, networking, and intelligent…

  1. Cytogenetic variability in pinus sylvestris L. populations experiencing anthropogenic influence

    International Nuclear Information System (INIS)

    Oudalova, A.; Geras'kin, S.; Vasiliev, D.; Dikarev, V.

    2004-01-01

    Techno-genic pollution has become one of the most significant ecological factors determining biosphere existence and development. An analysis of genetic consequences of the radiation accidents in the South Urals and Chernobyl has shown that mutation and recombination processes are considerably accelerated in plant and animal's populations experiencing techno-genic influence. This implies that there are complicated adaptation processes leading to changes in genetic structure of populations and increasing genetic load. Pinus sylvestris L. populations growing at the territory of the 'radon' Leningrad regional radioactive waste reprocessing enterprise and Sosnovy Bor town were monitored 6 years (1997-2002) by a set of cyto-genetical and morphological tests. Cytogenetic damage levels within intercalary meristem of needle as well as in root meristem of seedlings were found to significantly exceed corresponding controls. A higher radioresistance of the Scots pine seeds analyzed was demonstrated with an acute γ-radiation that also revealed a selection process directed at an enhancement of repair efficiency and resulting in a shift of mean values of radioresistance in populations towards higher values. An enlargement of variance of studied cytogenetic parameters was found in the populations experiencing techno-genic influence. This indicates, with an account of phenomenon of the enhanced radioresistance, that there are processes of cyto-genetical adaptation in the investigated regions. An analysis of the structure of ecological-genetical variability was carried out with the purpose of separating two components in the inter-population variability - the first is engaged to the genetically determined variability of biological characteristics intrinsic for this species, and the second is responsible for the variability originating from anthropogenic contamination of the natural habitat. Changes of these two types of variability were studied in dependence on time and techno

  2. Cytogenetic variability in pinus sylvestris L. populations experiencing anthropogenic influence

    Energy Technology Data Exchange (ETDEWEB)

    Oudalova, A.; Geras' kin, S.; Vasiliev, D.; Dikarev, V. [Russian Institute of Agricultural Radiology and Agroecology, Obninsk (Russian Federation)

    2004-07-01

    Techno-genic pollution has become one of the most significant ecological factors determining biosphere existence and development. An analysis of genetic consequences of the radiation accidents in the South Urals and Chernobyl has shown that mutation and recombination processes are considerably accelerated in plant and animal's populations experiencing techno-genic influence. This implies that there are complicated adaptation processes leading to changes in genetic structure of populations and increasing genetic load. Pinus sylvestris L. populations growing at the territory of the 'radon' Leningrad regional radioactive waste reprocessing enterprise and Sosnovy Bor town were monitored 6 years (1997-2002) by a set of cyto-genetical and morphological tests. Cytogenetic damage levels within intercalary meristem of needle as well as in root meristem of seedlings were found to significantly exceed corresponding controls. A higher radioresistance of the Scots pine seeds analyzed was demonstrated with an acute {gamma}-radiation that also revealed a selection process directed at an enhancement of repair efficiency and resulting in a shift of mean values of radioresistance in populations towards higher values. An enlargement of variance of studied cytogenetic parameters was found in the populations experiencing techno-genic influence. This indicates, with an account of phenomenon of the enhanced radioresistance, that there are processes of cyto-genetical adaptation in the investigated regions. An analysis of the structure of ecological-genetical variability was carried out with the purpose of separating two components in the inter-population variability - the first is engaged to the genetically determined variability of biological characteristics intrinsic for this species, and the second is responsible for the variability originating from anthropogenic contamination of the natural habitat. Changes of these two types of variability were studied in dependence on

  3. Plant centromeric retrotransposons: a structural and cytogenetic perspective

    Czech Academy of Sciences Publication Activity Database

    Neumann, Pavel; Navrátilová, Alice; Koblížková, Andrea; Kejnovský, Eduard; Hřibová, Eva; Hobza, Roman; Widmer, A.; Doležel, Jaroslav; Macas, Jiří

    2011-01-01

    Roč. 2, č. 4 (2011), s. 1-16 ISSN 1759-8753 R&D Projects: GA AV ČR KJB500960802; GA MŠk(CZ) LC06004; GA ČR GA522/09/0083 Institutional research plan: CEZ:AV0Z50510513; CEZ:AV0Z50040507; CEZ:AV0Z50040702; CEZ:AV0Z50380511 Keywords : plant chromosomes * retrotransposons * cytogenetic perspective Subject RIV: EB - Genetics ; Molecular Biology

  4. An overview of cytogenetics of the tribe Meliponini (Hymenoptera: Apidae).

    Science.gov (United States)

    Tavares, Mara Garcia; Lopes, Denilce Meneses; Campos, L A O

    2017-06-01

    The present study provides a comprehensive review of cytogenetic data on Meliponini and their chromosomal evolution. The compiled data show that only 104 species of stingless bees, representing 32 of the 54 living genera have been studied cytogenetically and that among these species, it is possible to recognize three main groups with n = 9, 15 and 17, respectively. The first group comprises the species of the genus Melipona, whereas karyotypes with n = 15 and n = 17 have been detected in species from different genera. Karyotypes with n = 17 are the most common among the Meliponini studied to date. Cytogenetic information on Meliponini also shows that although chromosome number, in general, is conserved among species of a certain genus, other aspects, such as chromosome morphology, quantity, distribution and composition of heterochromatin, may vary between them. This reinforces the fact that the variations observed in the karyotypes of different Meliponini groups cannot be explained by a single theory or a single type of structural change. In addition, we present a discussion about how these karyotype variations are related to the phylogenetic relationships among the different genera of this tribe.

  5. Differential Analysis of Genetic, Epigenetic, and Cytogenetic Abnormalities in AML

    Directory of Open Access Journals (Sweden)

    Mirazul Islam

    2017-01-01

    Full Text Available Acute myeloid leukemia (AML is a haematological malignancy characterized by the excessive proliferation of immature myeloid cells coupled with impaired differentiation. Many AML cases have been reported without any known cytogenetic abnormalities and carry no mutation in known AML-associated driver genes. In this study, 200 AML cases were selected from a publicly available cohort and differentially analyzed for genetic, epigenetic, and cytogenetic abnormalities. Three genes (FLT3, DNMT3A, and NPMc are found to be predominantly mutated. We identified several aberrations to be associated with genome-wide methylation changes. These include Del (5q, T (15; 17, and NPMc mutations. Four aberrations—Del (5q, T (15; 17, T (9; 22, and T (9; 11—are significantly associated with patient survival. Del (5q-positive patients have an average survival of less than 1 year, whereas T (15; 17-positive patients have a significantly better prognosis. Combining the methylation and mutation data reveals three distinct patient groups and four clusters of genes. We speculate that combined signatures have the better potential to be used for subclassification of AML, complementing cytogenetic signatures. A larger sample cohort and further investigation of the effects observed in this study are required to enable the clinical application of our patient classification aided by DNA methylation.

  6. [AML treatment strategy based on cytogenetic abnormalities and somatic mutations].

    Science.gov (United States)

    Imai, Yoichi

    2015-10-01

    In addition to morphological and histocytochemical analyses of acute myeloid leukemia (AML), data on cytogenetic abnormalities and somatic mutations are used for classification of AML. The risk stratification based on these examinations facilitates determining the treatment strategy for AML. Cytogenetic risk category definitions by the Southwest Oncology Group (SWOG), Cancer and Leukemia Group B (CALGB), and The Medical Research Council (MRC) classify AML patients into favorable, intermediate, and adverse groups. Approximately 80% of patients in the intermediate group have a normal karyotype and the importance of molecular genetic analyses in these patients is increasing. Somatic mutations of NPM1, CEBPA, and FLT3 are known to be related to the prognosis of AML patients. The European LeukemiaNet (ELN) introduced risk stratification for AML patients based on cytogenetic abnormalities and NPM1, CEBPA, and FLT3 mutations. This risk stratification can be used to select only chemotherapy or chemotherapy with allogeneic hematopoietic stem cell transplantation as consolidation therapy for individual AML patients. Development of molecular targeted therapies against FLT3 or IDH mutations is in progress and these novel therapies are expected to contribute to improving the prognosis of AML patients.

  7. Results of six years of cytogenetic studies in amniotic fluid

    Directory of Open Access Journals (Sweden)

    Enelis Reyes Reyes

    2015-10-01

    Full Text Available Background: research into different genetic diseases is one of the preventive programs of paramount importance at public health level. The early detection of chromosomopathies and the establishment of an appropriate strategy reduce the morbidity-morality rate and improve the patients’ quality of life.Objective: to describe the behavior of the results of the cytogenetic studies in the amniotic fluid of pregnant women from Las Tunas province during six years: from 2008 to 2014.Methods: a retrospective and descriptive study was carried out to assess the results of cytogenetic studies in amniotic liquid during six years: from 2008 to 2014. The statistical records were checked and the results, the indication criteria, the behavior of the age groups in women advanced in age and the diagnosed chromosomopathies were assessed.Results: the samples with results that exceeded the non-conclusive and positive women prevailed; 2, 3 positive cases of chromosomopathies were diagnosed out of 100 studied women at risk; pregnant women of advanced gestational years prevailed as indication criterion, being the 37 to 40 years old age group the predominant one; in the positive cases, numeric chromosomopathies of the type trisomy 21 or Down’s syndrome prevailed, with a frequency of 1, 2 out of 100 pregnant women at risk.Conclusions: the program of the cytogenetic diagnosis in the amniotic fluid has been an effective tool to detect congenital prenatal defects by chromosomopathies, very useful in the process of genetic advice.

  8. Cytogenetic examination of cosmonauts for space radiation exposure estimation

    Science.gov (United States)

    Snigiryova, G. P.; Novitskaya, N. N.; Fedorenko, B. S.

    2012-08-01

    PurposeTo evaluate radiation induced chromosome aberration frequency in peripheral blood lymphocytes of cosmonauts who participated in flights on Mir Orbital Station and ISS (International Space Station). Materials and methodsCytogenetic examination which has been performed in the period 1992-2008 included the analysis of chromosome aberrations using conventional Giemsa staining method in 202 blood samples from 48 cosmonauts who participated in flights on Mir Orbital Station and ISS. ResultsSpace flights led to an increase of chromosome aberration frequency. Frequency of dicentrics plus centric rings (Dic+Rc) depend on the space flight duration and accumulated dose value. After the change of space stations (from Mir Orbital Station to ISS) the radiation load of cosmonauts based on data of cytogenetic examination decreased. Extravehicular activity also adds to chromosome aberration frequency in cosmonauts' blood lymphocytes. Average doses after the first flight, estimated by the frequency of Dic+Rc, were 227 and 113 mGy Eq for long-term flights (LTF) and 107 and 53 mGy Eq for short-term flights (STF). ConclusionCytogenetic examination of cosmonauts can be applied to assess equivalent doses.

  9. Long Term Storage of cytogenetic changes in liquidators of Chernobyl

    International Nuclear Information System (INIS)

    Karpov, V. B.

    2004-01-01

    At present chromosome aberration analysis in lymphocytes as well as micronucleus assay are most reliable methods of bio indication of radiation effects. The problem of persistent of cytogenetic changes during the long term after exposure is very important. The cytogenetic studies of liquidators residents of St. Petersburg and region revealed that the average chromosome aberration rate 4-5 years after the accident constitutes 4.94±0.38, number of aberrant cells was 4.82±0.36, dicentrics -0.23±0.10 per 100 cells, micronucleus number -46.1±2.1 per 100 cells that is significantly higher than in control group. dispersion analysis confirms the reported level of external exposure effects on chromosome aberration rate (?=0.04) in this group of liquidators. In 73 persons from the group of high risk participants of nuclear tests, nuclear submarine personnel 8-45 years after average number of chromosome aberrations was 6.5±0.32; dicentrics - 0.64±0.10, centric rings- 0.04±0.02 per 100 cells, for micronuclei -51.4±2.82 per thousand cells, that is significantly higher than in control group (p<0.01). In 45.2% cases the aberration markers (disentrics and centric rings) were found. The late cytogenetic effects were observed after decades and possibility to use these indicators for long term diagnosis is now under consideration. (Author)

  10. Anti-leukemic therapies induce cytogenetic changes of human bone marrow-derived mesenchymal stem cells.

    Science.gov (United States)

    Yeh, Su-Peng; Lo, Wen-Jyi; Lin, Chiao-Lin; Liao, Yu-Min; Lin, Chen-Yuan; Bai, Li-Yuan; Liang, Ji-An; Chiu, Chang-Fang

    2012-02-01

    Both bone marrow hematopoietic cells (BM-HCs) and mesenchymal stem cells (BM-MSCs) may have cytogenetic aberrations in leukemic patients, and anti-leukemic therapy may induce cytogenetic remission of BM-HCs. The impact of anti-leukemic therapy on BM-MSCs remains unknown. Cytogenetic studies of BM-MSCs from 15 leukemic patients with documented cytogenetic abnormalities of BM-HCs were investigated. To see the influence of anti-leukemic therapy on BM-MSCs, cytogenetic studies were carried out in seven of them after the completion of anti-leukemic therapy, including anthracycline/Ara-C-based chemotherapy in two patients, high-dose busulfan/cyclophosphamide-based allogeneic transplantation in two patients, and total body irradiation (TBI)-based allogeneic transplantation in three patients. To simulate the effect of TBI in vitro, three BM-MSCs from one leukemic patient and two normal adults were irradiated using the same dosage and dosing schedule of TBI and cytogenetics were re-examined after irradiation. At the diagnosis of leukemia, two BM-MSCs had cytogenetic aberration, which were completely different to their BM-HCs counterpart. After the completion of anti-leukemic therapy, cytogenetic aberration was no longer detectable in one patient. Unexpectedly, BM-MSCs from three patients receiving TBI-based allogeneic transplantation acquired new, clonal cytogenetic abnormalities after transplantation. Similarly, complex cytogenetic abnormalities were found in all the three BM-MSCs exposed to in vitro irradiation. In conclusion, anti-leukemic treatments induce not only "cytogenetic remission" but also new cytogenetic abnormalities of BM-MSCs. TBI especially exerts detrimental effect on the chromosomal integrity of BM-MSCs and highlights the equal importance of investigating long-term adverse effect of anti-leukemic therapy on BM-MSCs as opposed to beneficial effect on BM-HCs.

  11. Flow cytometry-assisted quantification of γH2AX expression has potential as a rapid high-throughput biodosimetry tool.

    Science.gov (United States)

    Achel, Daniel G; Serafin, Antonio M; Akudugu, John M

    2016-08-01

    Large-scale radiological events require immediate and accurate estimates of doses received by victims, and possibly the first responders, to assist in treatment decisions. Although there are numerous efforts worldwide to develop biodosimetric tools to adequately handle triage needs during radiological incidents, such endeavours do not seem to actively involve sub-Saharan Africa which currently has a significant level of nuclear-related activity. To initiate a similar interest in Africa, ex vivo radiation-induced γH2AX expression in peripheral blood lymphocytes from fourteen healthy donors was assessed using flow cytometry. While the technique shows potential for use as a rapid high-throughput biodosimetric tool for radiation absorbed doses up to 5 Gy, significant inter-individual differences in γH2AX expression emerged. Also, female donors exhibited higher levels of γH2AX expression than their male counterparts. To address these shortcomings, gender-based in-house dose-response curves for γH2AX induction in lymphocytes 2, 4, and 6 h after X-ray irradiation are proposed for the South African population. The obtained results show that γH2AX is a good candidate biomarker for biodosimetry, but might need some refinement and validation through further studies involving a larger cohort of donors.

  12. Quick cytogenetic screening of breeding bulls using flow cytometric sperm DNA histogram analysis.

    Science.gov (United States)

    Nagy, Szabolcs; Polgár, Péter J; Andersson, Magnus; Kovács, András

    2016-09-01

    The aim of the present study was to test the FXCycle PI/RNase kit for routine DNA analyses in order to detect breeding bulls and/or insemination doses carrying cytogenetic aberrations. In a series of experiments we first established basic DNA histogram parameters of cytogenetically healthy breeding bulls by measuring the intraspecific genome size variation of three animals, then we compared the histogram profiles of bulls carrying cytogenetic defects to the baseline values. With the exception of one case the test was able to identify bulls with cytogenetic defects. Therefore, we conclude that the assay could be incorporated into the laboratory routine where flow cytometry is applied for semen quality control.

  13. [Estimate of cytogenetic homeostasis in natural populations of some small murid rodents].

    Science.gov (United States)

    Dmitriev, C G; Zakharov, V M

    2001-01-01

    Cytogenetic homeostasis in natural populations under natural conditions and anthropogenic stress was estimated according to the frequency of chromosome aberrations in somatic cells for six species of small mammals. Cytogenetic homeostasis was disturbed under the stress effect of increased density during population cycles, at the ecological periphery, and in the case of environmental chemical and radiation contamination. Cytogenetic homeostasis disturbances were related to changes in other indices of homeostasis, such as developmental stability and immune status, suggesting the use of the cytogenetic approach for estimating the general state of individuals in natural populations.

  14. Cytogenetic Profile and Gene Mutations of Childhood Acute Lymphoblastic Leukemia

    Directory of Open Access Journals (Sweden)

    Nawaf Alkhayat

    2017-07-01

    Full Text Available Background: Childhood acute lymphoblastic leukemia (ALL is characterized by recurrent genetic aberrations. The identification of those abnormalities is clinically important because they are considered significant risk-stratifying markers. Aims: There are insufficient data of cytogenetic profiles in Saudi Arabian patients with childhood ALL leukemia. We have examined a cohort of 110 cases of ALL to determine the cytogenetic profiles and prevalence of FLT3 mutations and analysis of the more frequently observed abnormalities and its correlations to other biologic factors and patient outcomes and to compare our results with previously published results. Materials and methods: Patients —We reviewed all cases from 2007 to 2016 with an established diagnosis of childhood ALL. Of the 110 patients, 98 were B-lineage ALL and 12 T-cell ALL. All the patients were treated by UKALL 2003 protocol and risk stratified according previously published criteria. Cytogenetic analysis —Chromosome banding analysis and fluorescence in situ hybridization were used to detect genetic aberrations. Analysis of FLT3 mutations —Bone marrow or blood samples were screened for FLT3 mutations (internal tandem duplications, and point mutations, D835 using polymerase chain reaction methods. Result: Cytogenetic analysis showed chromosomal anomalies in 68 out of 102 cases with an overall incidence 66.7%. The most frequent chromosomal anomalies in ALL were hyperdiploidy, t(9;22, t(12;21, and MLL gene rearrangements. Our data are in accordance with those published previously and showed that FLT3 mutations are not common in patients with ALL (4.7% and have no prognostic relevance in pediatric patients with ALL. On the contrary, t(9;22, MLL gene rearrangements and hypodiploidy were signs of a bad prognosis in childhood ALL with high rate of relapse and shorter overall survival compared with the standard-risk group ( P  = .031.The event-free survival was also found to be worse ( P

  15. [Fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of cytogenetic aberrations of multiple myeloma].

    Science.gov (United States)

    Wang, Xiao-Wei; Li, Jian-Yong; Chen, Li-Juan; Qian, Si-Xuan; Hong, Ming; Qiao, Chun; Zhang, Jian-Fu; Xu, Wei; Lu, Hua

    2008-12-01

    This study was aimed to establish the technique of fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of neoplasms (FICTION) used to smear of bone marrow, so as to develop a new technique for detection of the molecular cytogenetic abnormalities in multiple myeloma (MM). By using the bone marrow smear as the carrier and the anti-CD138 antibody linked with FITC, direct fluorescence staining was applied to mark plasma cells (PCs) and differences were compared in the proportion of both PCs marked by fluorescence staining and PCs detected in morphology. At the same time, the chromosome 8 centromere probe was used in interphase fluorescence in situ hybridization (I-FISH) for detection of the chromosome 8 abnormalities in PCs marked by fluorescence staining. The results showed that there was no significant difference between the proportions of both PCs marked by fluorescence staining and PCs detected in morphology on smear (p>0.05). 4 out of 9 patients (44%) had the chromosome 8 abnormalities, including 3 cases with -8 (33%) and one case with +8 (11%). It is concluded that the FICTION technique on the basis of bone marrow smear is characterized by convenience, specificity and accuracy. Therefore, it can be used for molecular cytogenetic research in MM.

  16. Impact of baseline cytogenetic findings and cytogenetic response on outcome of high-risk myelodysplastic syndromes and low blast count AML treated with azacitidine.

    Science.gov (United States)

    Sébert, Marie; Komrokji, Rami S; Sekeres, Mikkael A; Prebet, Thomas; Cluzeau, Thomas; Santini, Valeria; Gyan, Emmanuel; Sanna, Alessandro; Ali, Najla HAl; Hobson, Sean; Eclache, Virginie; List, Alan; Fenaux, Pierre; Adès, Lionel

    2017-12-01

    Karyotype according to the revised IPSS is a strong independent prognostic factor for overall survival (OS) in myelodysplastic syndromes (MDS), however established in untreated patients. The prognostic impact of cytogenetics and cytogenetic response (CyR) in MDS patients receiving azacitidine (AZA) remains uncertain. We examined the prognostic value of baseline cytogenetics and CyR for overall response rate (ORR) and OS in 702 AZA-treated higher risk MDS and low blast count acute myeloid leukemia (AML), including 493 (70%) with abnormal karyotype. None of the cytogenetic abnormalities had significant impact on ORR (43.9%) or complete response (15.35%), except 3q abnormalities and complex karyotypes, which were associated with a lower ORR. OS differed significantly across all R-IPSS cytogenetic subgroups (pcytogenetics. CyR was achieved in 32% of the 281 evaluable patients with abnormal cytogenetics, was complete (CCyR) in 71 (25.3%) patients. We found no correlation between hematological response and cytogenetic response and 21% of the patients with CCyR did not achieve morphological response. In the 281 patients, we found no impact of CyR on survival, but when restricting to MDS (ie: <20% marrow blasts) achievement of CCyR was associated with better OS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. Cytogenetic heterogeneity and their serial dynamic changes during acquisition of cytogenetic aberrations in cultured mesenchymal stem cells

    International Nuclear Information System (INIS)

    Kim, Jung-Ah; Im, Kyong Ok; Park, Si Nae; Kwon, Ji Seok; Kim, Seon Young; Oh, Keunhee; Lee, Dong-Sup; Kim, Min Kyung; Kim, Seong Who; Jang, Mi; Lee, Gene; Oh, Yeon-Mok; Lee, Sang Do; Lee, Dong Soon

    2015-01-01

    Highlights: • We evaluated cytogenetic aberrations of MSC during culture using G-banding and FISH. • We tracked the quantitative changes of each clone among heterogeneity upon passages. • The changes of cytogenetic profile upon passages were similar to cancer stem cell. - Abstract: To minimize the risk of tumorigenesis in mesenchymal stem cells (MSCs), G-banding analysis is widely used to detect chromosomal aberrations in MSCs. However, a critical limitation of G-banding is that it only reflects the status of metaphase cells, which can represent as few as 0.01% of tested cells. During routine cytogenetic testing in MSCs, we often detect chromosomal aberrations in minor cell populations. Therefore, we aimed to investigate whether such a minority of cells can expand over time or if they ultimately disappear during MSC passaging. We passaged MSCs serially while monitoring quantitative changes for each aberrant clone among heterogeneous MSCs. To investigate the cytogenetic status of interphase cells, which represent the main population, we also performed interphase FISH analysis, in combination with G-banding and telomere length determination. In human adipose tissue-derived MSCs, 4 types of chromosomal aberrations were found during culturing, and in umbilical cord MSCs, 2 types of chromosomal aberrations were observed. Sequential dynamic changes among heterogeneous aberrant clones during passaging were similar to the dynamic changes observed in cancer stem cells during disease progression. Throughout all passages, the quantitative G-banding results were inconsistent with those of the interphase FISH analysis. Interphase FISH revealed hidden aberrations in stem cell populations with normal karyotypes by G-banding analysis. We found that telomere length gradually decreased during passaging until the point at which cytogenetic aberrations appeared. The present study demonstrates that rare aberrant clones at earlier passages can become predominant clones during

  18. Cytogenetic heterogeneity and their serial dynamic changes during acquisition of cytogenetic aberrations in cultured mesenchymal stem cells

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung-Ah [Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Im, Kyong Ok; Park, Si Nae; Kwon, Ji Seok [Cancer Research Institute, Seoul National University College of Medicine, Seoul (Korea, Republic of); Kim, Seon Young [Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Oh, Keunhee; Lee, Dong-Sup [Laboratory of Immunology and Cancer Biology, Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul (Korea, Republic of); Transplantation Research Institute, Seoul National University College of Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Kim, Min Kyung; Kim, Seong Who [Department of Biochemistry and Molecular Biology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Jang, Mi; Lee, Gene [Lab of Molecular Genetics, School of Dentistry and Dental Research Institute, Seoul National University, Seoul (Korea, Republic of); Oh, Yeon-Mok; Lee, Sang Do [Department of Pulmonary and Critical Care Medicine, Asthma Center and Clinical Research Center for Chronic Obstructive Airway Diseases, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Lee, Dong Soon, E-mail: soonlee@snu.ac.kr [Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Cancer Research Institute, Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2015-07-15

    Highlights: • We evaluated cytogenetic aberrations of MSC during culture using G-banding and FISH. • We tracked the quantitative changes of each clone among heterogeneity upon passages. • The changes of cytogenetic profile upon passages were similar to cancer stem cell. - Abstract: To minimize the risk of tumorigenesis in mesenchymal stem cells (MSCs), G-banding analysis is widely used to detect chromosomal aberrations in MSCs. However, a critical limitation of G-banding is that it only reflects the status of metaphase cells, which can represent as few as 0.01% of tested cells. During routine cytogenetic testing in MSCs, we often detect chromosomal aberrations in minor cell populations. Therefore, we aimed to investigate whether such a minority of cells can expand over time or if they ultimately disappear during MSC passaging. We passaged MSCs serially while monitoring quantitative changes for each aberrant clone among heterogeneous MSCs. To investigate the cytogenetic status of interphase cells, which represent the main population, we also performed interphase FISH analysis, in combination with G-banding and telomere length determination. In human adipose tissue-derived MSCs, 4 types of chromosomal aberrations were found during culturing, and in umbilical cord MSCs, 2 types of chromosomal aberrations were observed. Sequential dynamic changes among heterogeneous aberrant clones during passaging were similar to the dynamic changes observed in cancer stem cells during disease progression. Throughout all passages, the quantitative G-banding results were inconsistent with those of the interphase FISH analysis. Interphase FISH revealed hidden aberrations in stem cell populations with normal karyotypes by G-banding analysis. We found that telomere length gradually decreased during passaging until the point at which cytogenetic aberrations appeared. The present study demonstrates that rare aberrant clones at earlier passages can become predominant clones during

  19. Role of DNA repair in repair of cytogenetic damages. Contribution of repair of single-strand DNA breaks to cytogenetic damages repair

    International Nuclear Information System (INIS)

    Rozanova, O.M.; Zaichkina, S.I.; Aptikaev, G.F.; Ganassi, E.Eh.

    1989-01-01

    The comparison was made between the results of the effect of poly(ADP-ribosylation) ingibitors (e.g. nicotinamide and 3-aminobenzamide) and a chromatin proteinase ingibitor, phenylmethylsulfonylfluoride, on the cytogenetic damages repair, by a micronuclear test, and DNA repair in Chinese hamster fibroblasts. The values of the repair half-periods (5-7 min for the cytogenetic damages and 5 min for the rapidly repaired DNA damages) and a similar modyfying effect with regard to radiation cytogenetic damages and kynetics of DNA damages repair were found to be close. This confirms the contribution of repair of DNA single-strand breaks in the initiation of structural damages to chromosomes

  20. Treatment With JAK Inhibitors in Myelofibrosis Patients Nullifies the Prognostic Impact of Unfavorable Cytogenetics.

    Science.gov (United States)

    Ma, Vincent T; Boonstra, Philip S; Menghrajani, Kamal; Perkins, Cecelia; Gowin, Krisstina L; Mesa, Ruben A; Gotlib, Jason R; Talpaz, Moshe

    2018-05-01

    In the era before Janus kinase (JAK) inhibitors, cytogenetic information was used to predict survival in myelofibrosis patients. However, the prognostic value of cytogenetics in the setting of JAK inhibitor therapy remains unknown. We performed a retrospective analysis of 180 patients with bone marrow biopsy-proven myelofibrosis from 3 US academic medical centers. We fit Cox proportional hazards models for overall survival and transformation-free survival on the bases of 3 factors: JAK inhibitor therapy as a time-dependent covariate, dichotomized cytogenetic status (favorable vs. unfavorable), and statistical interaction between the two. The median follow-up time was 37.1 months. Among patients treated with best available therapy, unfavorable cytogenetic status was associated with decreased survival (hazard ratio = 2.31; P = .025). At initiation of JAK inhibitor therapy, unfavorable cytogenetics was (nonsignificantly) associated with increased survival compared to favorable cytogenetics (hazard ratio = 0.292; P = .172). The ratio of hazard ratios was 0.126 (P = .034). These findings were similar after adjusting for standard clinical prognostic factors as well as when measured against transformation-free survival. The initiation of JAK inhibitor therapy appears to change the association between cytogenetics and overall survival. There was little difference in survival between treatment types in patients with favorable cytogenetics. However, the use of JAK inhibitor therapy among patients with unfavorable cytogenetics was not associated with worse survival compared to favorable cytogenetics. Our analyses suggest that initiation of JAK inhibitor therapy nullifies the negative prognostic implication of unfavorable cytogenetics established in the pre-JAK inhibitor therapy era. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

  1. Cytogenetic Profile of Down Syndrome Cases Seen by a General Genetics Outpatient Service in Brazil

    Science.gov (United States)

    Biselli, Joice; Goloni-Bertollo, Eny; Ruiz, Mariangela; Pavarino-Bertelli, Erika

    2009-01-01

    Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of…

  2. Omitting cytogenetic assessment from routine treatment response monitoring in chronic myeloid leukemia is safe.

    Science.gov (United States)

    Geelen, Inge G P; Thielen, Noortje; Janssen, Jeroen J W M; Hoogendoorn, Mels; Roosma, Tanja J A; Valk, Peter J M; Visser, Otto; Cornelissen, Jan J; Westerweel, Peter E

    2018-04-01

    The monitoring of response in chronic myeloid leukemia (CML) is of great importance to identify patients failing their treatment in order to adjust TKI choice and thereby prevent progression to advanced stage disease. Cytogenetic monitoring has a lower sensitivity, is expensive, and requires invasive bone marrow sampling. Nevertheless, chronic myeloid leukemia guidelines continue to recommend performing routine cytogenetic response assessments, even when adequate molecular diagnostics are available. In a population-based registry of newly diagnosed CML patients in the Netherlands, all simultaneous cytogenetic and molecular assessments performed at 3, 6, and 12 months were identified and response of these matched assessments was classified according to European Leukemia Net (ELN) recommendations. The impact of discrepant cytogenetic and molecular response classifications and course of patients with additional chromosomal abnormalities were evaluated. The overall agreement of 200 matched assessments was 78%. In case of discordant responses, response at 24 months was consistently better predicted by the molecular outcome. Cytogenetic response assessments provided relevant additional clinical information only in some cases of molecular "warning." The development of additional cytogenetic abnormalities was always accompanied with molecular failure. We conclude that it is safe to omit routine cytogenetics for response assessment during treatment and to only use molecular monitoring, in order to prevent ambiguous classifications, reduce costs, and reduce the need for invasive bone marrow sampling. Cytogenetic re-assessment should still be performed when molecular response is suboptimal. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Cytogenetic characterization of Encyclia caximboensis cultivated in vitro (Orchidaceae

    Directory of Open Access Journals (Sweden)

    Gizelly Mendes Silva

    2015-12-01

    Full Text Available Encyclia caximboensis is an Amazonian species endemic to the Serra do Cachimbo, which is located between the northern of the Mato Grosso state and the southern part of Para state. Studies reporting in vitro cultivation and cytogenetic characterization of this species are still scarce. Therefore, the objective of this work was to determine the cytogenetic characteristics and to identify the nucleolar organizer regions (NORs of the species E. Caximboensis, cultivated in vitro. Seeds of E. caximboensis were disinfected using a syringe and subsequently cultivated in MS medium without growth regulators. The germination started after 20 days of culture, with the development of protocorm and 40,500 seedlings were obtained after 90 days of culture. To perform the cytogenetic characterization, root tips of 180-day-old seedlings were submitted to blocking treatment using 3 µM trifiuralin and then fixed in methanol-acetic acid solution, 3:1 (v/v. The meristems were submitted to enzymatic digestion, fixed in methanol-acetic acid solution, 3:1 (v/v and the slides were stained using 5% Giemsa solution. Ag-NOR banding was carried out on 20-day-old slides by incubation in 50% silver nitrate solution (AgNO3 for 19 hours. The results indicated that E. caximboensis has 2n=2x=24 with all metacentric type chromosomes, ranging from 1.88 to 0.66 pm in length, with simple NORs in small blocks localized in the proximal region of the third chromosome pair.

  4. Conventional and molecular cytogenetic features of myelodysplastic syndrome in China.

    Science.gov (United States)

    Chen, L- J; Li, J- Y; Zhu, Y; Qiu, H- R; Pan, J- L; Wang, R; Qian, S- X; Xu, W; Xue, Y- Q

    2007-12-01

    Myelodysplastic syndrome (MDS) constitutes a heterogeneous group of hematopoietic stem cell disorder characterized by peripheral blood cytopenia(s), in the presence of hypercellular bone marrow with features of ineffective hematopoiesis, and susceptibility to acute leukemia (AL). Although the precise pathogenesis of MDS remains to be clarified, cytogenetic abnormalities seem to be involved in its pathogenesis and are considered as an important factor in diagnosis and predicting clinical outcome. To explore the cytogenetic features of Chinese patients with myelodysplastic syndrome (MDS). Conventional cytogenetic analysis was performed in 88 MDS patients and among them, 34 cases were studied by interphase fluorescence in situ hybridization (I-FISH) with precisely chromosome 8 centromere specific DNA probe and DNA specific probes for 7q32 , 5q31. Of the 88 patients, 45 (51.1%) showed clonal karyotypic abnormalities by CC at diagnosis, including numerical changes (18 cases, 20.5%), structural changes (12 cases, 13.6%), and numerical and structural changes simultaneously(15 cases, 17.0%). Trisomy 8, -5/5q-, and -7/ 7q- account for 20.5%, 15.9%, and 5.7% respectively. Complex karyotypes were observed in 17 patients, the incidence being 19.3% in the whole series of cases. Among 34 MDS patients studied by I-FISH, -5/5q-, -7/7q- and trisomy 8 occurring in 4, 2 and 10 cases respectively for CC were confirmed by I-FISH. 5 cases in 30 cases who did not show -5/5q- by CC displayed this abnormality by I-FISH. 3 cases without -7/7q- by CC presented this aberration by I-FISH. 5 cases with trisomy 8 for I-FISH was not identified this change by CC. The frequent abnormalities are trisomy 8, -5/5q- and -7/ 7q-. FISH is very useful in detecting these alterations in MDS and it is an important complement to CC.

  5. Evolutionary molecular cytogenetics of catarrhine primates: past, present and future.

    Science.gov (United States)

    Stanyon, R; Rocchi, M; Bigoni, F; Archidiacono, N

    2012-01-01

    The catarrhine primates were the first group of species studied with comparative molecular cytogenetics. Many of the fundamental techniques and principles of analysis were initially applied to comparisons in these primates, including interspecific chromosome painting, reciprocal chromosome painting and the extensive use of cloned DNA probes for evolutionary analysis. The definition and importance of chromosome syntenies and associations for a correct cladistics analysis of phylogenomic relationships were first applied to catarrhines. These early chromosome painting studies vividly illustrated a striking conservation of the genome between humans and macaques. Contemporarily, it also revealed profound differences between humans and gibbons, a group of species more closely related to humans, making it clear that chromosome evolution did not follow a molecular clock. Chromosome painting has now been applied to more that 60 primate species and the translocation history has been mapped onto the major taxonomic divisions in the tree of primate evolution. In situ hybridization of cloned DNA probes, primarily BAC-FISH, also made it possible to more precisely map breakpoints with spanning and flanking BACs. These studies established marker order and disclosed intrachromosomal rearrangements. When applied comparatively to a range of primate species, they led to the discovery of evolutionary new centromeres as an important new category of chromosome evolution. BAC-FISH studies are intimately connected to genome sequencing, and probes can usually be assigned to a precise location in the genome assembly. This connection ties molecular cytogenetics securely to genome sequencing, assuring that molecular cytogenetics will continue to have a productive future in the multidisciplinary science of phylogenomics. Copyright © 2012 S. Karger AG, Basel.

  6. Molecular cytogenetic of the Amoy croaker, Argyrosomus amoyensis (Teleostei, Sciaenidae)

    Science.gov (United States)

    Liao, Mengxiang; Zheng, Jiao; Wang, Zhiyong; Wang, Yilei; Zhang, Jing; Cai, Mingyi

    2017-08-01

    The family Sciaenidae is remarkable for its species richness and economic importance. However, the cytogenetic data available in this fish group are still limited, especially those obtained using fluorescence in situ hybridization (FISH). In the present study, the chromosome characteristics of a sciaenid species, Argyrosomus amoyensis, were examined with several cytogenetic methods, including dual-FISH with 18S and 5S rDNA probes, and a self-genomic in situ hybridization procedure (Self-GISH). The karyotype of A. amoyensis comprised 2n=48 acrocentric chromosomes. A single pair of nucleolar organizer regions (NORs) was located at the proximal position of chromosome 1, which was positive for silver nitrate impregnation (AgNO3) staining and denaturation-propidium iodide (DPI) staining but negative for Giemsa staining and 4',6-diamidino-2-phenylindole (DAPI) staining, and was confirmed by FISH with 18S rDNA probes. The 5S rDNA sites were located at the centromeric region of chromosome 3. Telomeric FISH signals were detected at all chromosome ends with different intensities, but internal telomeric sequences (ITSs) were not found. Self-GISH resulted in strong signals distributed at the centromeric regions of all chromosomes. C-banding revealed not only centromeric heterochromatin, but also heterochromatin that located on NORs, in interstitial and distal telomeric regions of specific chromosomes. These results suggest that the karyotype of Amoy croaker was relatively conserved and primitive. By comparison with the reported cytogenetic data of other sciaenids, it can be deduced that although the karyotypic macrostructure and chromosomal localization of 18S rDNA are conserved, the distribution of 5S rDNA varies dynamically among sciaenid species. Thus, the 5S rDNA sites may have different evolutionary dynamics in relation to other chromosomal regions, and have the potential to be effective cytotaxonomic markers in Sciaenidae.

  7. Primary cardiac lymphoma: molecular cytogenetic characterization of a rare entity.

    Science.gov (United States)

    Schell, Andrew J; Xu, Yuhui; Baetz, Tara; Harrison, Karen; Ropchan, Glorianne; LeBrun, David; Feilotter, Harriet

    2009-01-01

    The majority of cardiac atrial neoplasms represent benign myxomas. Rarely, malignant cardiac neoplasms are encountered and can include primary cardiac neoplasms, as well as secondary tumors involving the heart. As many cardiac neoplasms lack pathognomonic clinical features, histopathologic diagnosis is crucial for classification and appropriate treatment of these neoplasms. Molecular investigation is critical to begin to catalogue genomic changes that correlate with these malignancies. A 60-year-old man presented with superior vena cava syndrome, and computed tomographic scan revealed an infiltrative mass of the right atrium that nearly filled the atrial chamber and partially occluded superior vena cava flow. Urgent surgical resection revealed a soft mass with the appearance of "fish flesh." Histologic, immunochistochemical, cytogenetic, and detailed molecular investigations were carried out. Histologic examination revealed complete replacement of the atrial wall by diffuse sheets of pleomorphic lymphoid cells with occasional smaller plasmacytoid cells. The predominant lymphoid population was immunoreactive for CD45, CD20, CD79a, BCL-2, BCL-6, Ki-67, CD10, p53, and light chain restricted for IgM lambda. A diagnosis of primary cardiac diffuse large B-cell lymphoma with plasmacytoid differentiation was established and was supported by cytogenetic studies demonstrating the presence of a t(14;18)(q32;q21) translocation in addition to other chromosomal abnormalities. Fluorescence in situ hybridization revealed no evidence of a C-MYC translocation. In this single case, comparative genomic hybridization analysis using both bacterial artificial chromosome and oligonucleotide arrays correlated well with cytogenetic findings and allows for the cataloguing of more subtle genomic events.

  8. Cytogenetic investigation of thallium-poisoned people: pilot study.

    Science.gov (United States)

    Nikiforov, A; Slozina, N; Neronova, E; Kharchenko, T; Sosukin, A; Scherbak, S; Sarana, A; Onikienko, S

    1999-12-24

    Thirteen blood samples of thallium-poisoned people were cytogenetically investigated. The thallium concentration in blood varied from 25 to 2700 microg/L. The mean frequency of chromosomal aberrations in the poisoned group significantly exceeded our control level (7.08+/--2.19% and 2.03+/--0.25, ppoisoned group (7.77+/-2.68% and 1.59+/-0.23%, pthallium is an S-dependent clastogenic agent because the majority of the structural aberrations are of the chromatid type. Irrespective of mechanisms, damage to genetic material was revealed in thallium-poisoned people.

  9. Examining Radiation-Induced In Vivo and In Vitro Gene Expression Changes of the Peripheral Blood in Different Laboratories for Biodosimetry Purposes: First RENEB Gene Expression Study.

    Science.gov (United States)

    Abend, M; Badie, C; Quintens, R; Kriehuber, R; Manning, G; Macaeva, E; Njima, M; Oskamp, D; Strunz, S; Moertl, S; Doucha-Senf, S; Dahlke, S; Menzel, J; Port, M

    2016-02-01

    The risk of a large-scale event leading to acute radiation exposure necessitates the development of high-throughput methods for providing rapid individual dose estimates. Our work addresses three goals, which align with the directive of the European Union's Realizing the European Network of Biodosimetry project (EU-RENB): 1. To examine the suitability of different gene expression platforms for biodosimetry purposes; 2. To perform this examination using blood samples collected from prostate cancer patients (in vivo) and from healthy donors (in vitro); and 3. To compare radiation-induced gene expression changes of the in vivo with in vitro blood samples. For the in vitro part of this study, EDTA-treated whole blood was irradiated immediately after venipuncture using single X-ray doses (1 Gy/min(-1) dose rate, 100 keV). Blood samples used to generate calibration curves as well as 10 coded (blinded) samples (0-4 Gy dose range) were incubated for 24 h in vitro, lysed and shipped on wet ice. For the in vivo part of the study PAXgene tubes were used and peripheral blood (2.5 ml) was collected from prostate cancer patients before and 24 h after the first fractionated 2 Gy dose of localized radiotherapy to the pelvis [linear accelerator (LINAC), 580 MU/min, exposure 1-1.5 min]. Assays were run in each laboratory according to locally established protocols using either microarray platforms (2 laboratories) or qRT-PCR (2 laboratories). Report times on dose estimates were documented. The mean absolute difference of estimated doses relative to the true doses (Gy) were calculated. Doses were also merged into binary categories reflecting aspects of clinical/diagnostic relevance. For the in vitro part of the study, the earliest report time on dose estimates was 7 h for qRT-PCR and 35 h for microarrays. Methodological variance of gene expression measurements (CV ≤10% for technical replicates) and interindividual variance (≤twofold for all genes) were low. Dose estimates based on

  10. Gamma-H2AX biodosimetry for use in large scale radiation incidents: comparison of a rapid ‘96 well lyse/fix’ protocol with a routine method

    Directory of Open Access Journals (Sweden)

    Jayne Moquet

    2014-03-01

    Full Text Available Following a radiation incident, preliminary dose estimates made by γ-H2AX foci analysis can supplement the early triage of casualties based on clinical symptoms. Sample processing time is important when many individuals need to be rapidly assessed. A protocol was therefore developed for high sample throughput that requires less than 0.1 ml blood, thus potentially enabling finger prick sampling. The technique combines red blood cell lysis and leukocyte fixation in one step on a 96 well plate, in contrast to the routine protocol, where lymphocytes in larger blood volumes are typically separated by Ficoll density gradient centrifugation with subsequent washing and fixation steps. The rapid ‘96 well lyse/fix’ method reduced the estimated sample processing time for 96 samples to about 4 h compared to 15 h using the routine protocol. However, scoring 20 cells in 96 samples prepared by the rapid protocol took longer than for the routine method (3.1 versus 1.5 h at zero dose; 7.0 versus 6.1 h for irradiated samples. Similar foci yields were scored for both protocols and consistent dose estimates were obtained for samples exposed to 0, 0.2, 0.6, 1.1, 1.2, 2.1 and 4.3 Gy of 250 kVp X-rays at 0.5 Gy/min and incubated for 2 h. Linear regression coefficients were 0.87 ± 0.06 (R2 = 97.6% and 0.85 ± 0.05 (R2 = 98.3% for estimated versus actual doses for the routine and lyse/fix method, respectively. The lyse/fix protocol can therefore facilitate high throughput processing for γ-H2AX biodosimetry for use in large scale radiation incidents, at the cost of somewhat longer foci scoring times.

  11. Autonomous Systems: Habitat Automation

    Data.gov (United States)

    National Aeronautics and Space Administration — The Habitat Automation Project Element within the Autonomous Systems Project is developing software to automate the automation of habitats and other spacecraft. This...

  12. An Automation Planning Primer.

    Science.gov (United States)

    Paynter, Marion

    1988-01-01

    This brief planning guide for library automation incorporates needs assessment and evaluation of options to meet those needs. A bibliography of materials on automation planning and software reviews, library software directories, and library automation journals is included. (CLB)

  13. Introduction of cytogenetic tests in colorectal cancer screening.

    Science.gov (United States)

    Suceveanu, Andra Iulia; Suceveanu, Adrian; Voinea, Florea; Mazilu, Laura; Mixici, Francisc; Adam, Tatiana

    2009-03-01

    BACKGROUND AND AIM. The existing tests practiced on a large scale in colorectal cancer (CRC) screening do not fully accomplish the goal of best specificity and sensitivity or either an optimal cost/efficiency ratio. We aimed to analyze genetic mutations diagnosed in the DNA of exfoliated cells in the stool of the patients diagnosed with CRC through screening. We also aimed to demonstrate the similarity between the detected mutations in tumor samples and in exfoliated cells in the stool in order to prove the reliability of these cytogenetic tests, so that they could be introduced in CRC screening program. METHODS. We studied 200 patients diagnosed with CRC from whom we prelevated biopsy and stool samples. Samples were submitted to genetic analysis through denaturing gradient polyacrylamide gel electrophoresis method, and through polyacrylamide gel electrophoresis method for the heteroduplex analysis. Analyzed genes were APC, COL11A1, MLH1, MSH2 and MSH6. The chromosomal study was carried out using the PRINS technique. RESULTS. We discovered mutations in the APC gene (exons 4, 9, 13, and 15c) and COL11A1 gene (exon 54). Our chromosomal study detected instability of chromosomes 1, 7, 9, 20, and in 10 achrocentric chromosomes. CONCLUSIONS. Our results plead for the implementation of proposed cytogenetic tests in CRC screening programs.

  14. Molecular Cytogenetic Characterization of Tenosynovial Giant Cell Tumors

    Directory of Open Access Journals (Sweden)

    Petter Brandal

    2004-09-01

    Full Text Available Tenosynovial giant cell tumor (TSGCT is a disease of disputed etiology and pathogenesis. Some investigations indicate a neoplastic origin of the tumors; others indicate that they are polyclonal and inflammatory. The cytogenetic and molecular genetic features of TSGCTs are largely unknown, as only some 20 localized and 30 diffuse tumors with cytogenetic aberrations have been reported. The most common karyotypic aberrations have been trisomy for chromosomes 5 and 7 and translocations involving chromosomal area 1 pi 1-13. We decided to screen the genomes of TSGCTs by comparative genomic hybridization (CGH to perform interphase fluorescence in situ hybridization (IP-FISH, looking for numerical aberrations of chromosomes 1, 5, and 7, and to analyze the tumors for microsatellite instability. Except for two diffuse TSGCTs that came fresh to us, and which, by karyotyping, exhibited t(1;22(p13;g12 and a t(1;1(g21;p11 and +7, respectively, all studies had to be performed on formalinfixed, paraffin-embedded material. DNA was extracted from 51 localized and nine diffuse TSGCTs. CGH was successful for 24 tumors, but none of them showed copy number changes. The IP-FISH studies showed trisomy 7 in 56% of the tumors (15/27, whereas chromosomes 1 and 5 seemed to be disomic in all TSGCTs. All informative tumors were wild-type by microsatellite instability analysis.

  15. First cytogenetic study of Cavernicola pilosa Barber, 1937 (Hemiptera, Triatominae).

    Science.gov (United States)

    Souza, E S; Alevi, K C C; Ribeiro, A R; Furtado, M B; Atzingen, N C B V; Azeredo-Oliveira, M T V; Rosa, J A

    2015-10-30

    Cavernicola pilosa is a triatomine species that lives in caves and feeds on bat blood. This vector has a wide geographical distribution, and is found in Brazil, Colombia, Panama, Peru, and Venezuela. Little is known about the reproductive biology of this species, because most previous studies have only characterized its morphology, morphometry, ecology, and epidemiology. Therefore, this study aimed to obtain preliminary data related to spermatogenesis in C. pilosa by conducting cytogenetic analysis. Analysis of the heterochromatic pattern of C. pilosa during the initial prophases revealed that heterochromatic blocks are only present in the sex chromosomes. Based on the analyses of the meiotic metaphase and prophases, we found that the sex determination system of C. pilosa is XY and the chromosomes are holocentric. C. pilosa spermatids are filamentous and have long flagella. It was not possible to detect corpuscle or filament heteropycnosis in spermatids of this species. The initial cytogenetic data presented in this study are important in characterizing the spermatogenesis and heterochromatic patterns of C. pilosa. Our results suggest that adaptation to troglodytism did not result in differences in spermatogenesis in this vector.

  16. Cytogenetics and genome evolution in the subfamily Triatominae (Hemiptera, Reduviidae).

    Science.gov (United States)

    Panzera, F; Pérez, R; Panzera, Y; Ferrandis, I; Ferreiro, M J; Calleros, L

    2010-01-01

    The subfamily Triatominae (Hemiptera, Reduviidae), vectors of Chagas disease, includes over 140 species. Karyotypic information is currently available for 80 of these species. This paper summarizes the chromosomal variability of the subfamily and how it may reveal aspects of genome evolution in this group. The Triatominae present a highly conserved chromosome number. All species, except 3, present 20 autosomes. The differences in chromosome number are mainly caused by variation in the number of sex chromosomes, due to the existence of 3 sex systems in males (XY, X(1)X(2)Y and X(1)X(2)X(3)Y). However, inter- and intraspecific differences in the position, quantity and meiotic behavior of constitutive heterochromatin, in the total genome size, and in the location of ribosomal 45S rRNA clusters, have revealed considerable cytogenetic variability within the subfamily. This cytogenetic diversity offers the opportunity to perform cytotaxonomic and phylogenetic studies, as well as structural, evolutionary, and functional analyses of the genome. The imminent availability of the complete genome of Rhodnius prolixus also opens new perspectives for understanding the evolution and genome expression of triatomines. The application of fluorescence in situ hybridization for the mapping of genes and sequences, as well as comparative analyses of genome homology by comparative genomic hybridization will be useful tools for understanding the genomic changes in relation to evolutionary processes such as speciation and adaptation to different environments. Copyright 2010 S. Karger AG, Basel.

  17. Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

    Directory of Open Access Journals (Sweden)

    Seda Ates

    2016-09-01

    Full Text Available Aim: Premature ovarian insufficiency (POI is characterized as amenorrhea for more than 6 months, occurring before the age of 40, with an increased follicle-stimulating hormone and low estrogen concentrations. The aim of our study is to determine the types and distribution of cytogenetic abnormalities among women with POI. Material and Method: The study is based on the retrospective karyotype analysis of 65 women with idiopathic POI referred to the Medical Genetics Department at the Bezmialem Vakif University Hospital. Results: Chromosomal abnormalities were present in 12 of 65 cases (18.4%. All of them had numerical abnormalities of the X chromosome. The most frequently detected abnormalities were X chromosome mosaicisms. Two cases had fragile X premutation carriers. Eight (12.3% women were considered as familial POI. Discussion: Our results underline the essential role of the X chromosome in the etiology of POI. Therefore, regardless of clinical features and woman%u2019s age, cytogenetic investigations should be routinely performed in cases with POI.

  18. Cytogenetic effects induced by radiotherapy of cancer patients

    International Nuclear Information System (INIS)

    Ekhtiar, A.; Al-Achkar, W.

    2008-03-01

    Ionizing radiation plays a key role in the treatment of many neoplasias. But it is well known that ionizing radiation induce wide specter of DNA damages, including SSBs, DSBs, base damage, and DNA-protein cross links. As a consequence, a second tumor may be developed after the primary tumor therapy. Attempts have been made to evaluate the genotoxicity of ionizing radiation in patients undergoing radiotherapy. In the present work, the cytogenetic damage present in peripheral blood lymphocytes of patients (29 donors) treated with fractionated partial-body radiation therapy for Head-and-neck cancer patient was followed before, during and at the end of treatment by means of the cytokinesis-block micronucleus assay. These patients had no previous chemotherapy or radiotherapy. Our results indicate that the level of spontaneous cytogenetic damage in cancer patients and smokers control (3 donors) were higher than in healthy non smoking controls (3 donor). During and after treatment, increased of micronucleus cells frequencies were observed with increasing treatment doses.(author)

  19. Automated Budget System -

    Data.gov (United States)

    Department of Transportation — The Automated Budget System (ABS) automates management and planning of the Mike Monroney Aeronautical Center (MMAC) budget by providing enhanced capability to plan,...

  20. Automation 2017

    CERN Document Server

    Zieliński, Cezary; Kaliczyńska, Małgorzata

    2017-01-01

    This book consists of papers presented at Automation 2017, an international conference held in Warsaw from March 15 to 17, 2017. It discusses research findings associated with the concepts behind INDUSTRY 4.0, with a focus on offering a better understanding of and promoting participation in the Fourth Industrial Revolution. Each chapter presents a detailed analysis of a specific technical problem, in most cases followed by a numerical analysis, simulation and description of the results of implementing the solution in a real-world context. The theoretical results, practical solutions and guidelines presented are valuable for both researchers working in the area of engineering sciences and practitioners looking for solutions to industrial problems. .

  1. Marketing automation

    Directory of Open Access Journals (Sweden)

    TODOR Raluca Dania

    2017-01-01

    Full Text Available The automation of the marketing process seems to be nowadays, the only solution to face the major changes brought by the fast evolution of technology and the continuous increase in supply and demand. In order to achieve the desired marketing results, businessis have to employ digital marketing and communication services. These services are efficient and measurable thanks to the marketing technology used to track, score and implement each campaign. Due to the technical progress, the marketing fragmentation, demand for customized products and services on one side and the need to achieve constructive dialogue with the customers, immediate and flexible response and the necessity to measure the investments and the results on the other side, the classical marketing approached had changed continue to improve substantially.

  2. The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia.

    Science.gov (United States)

    Eisfeld, A-K; Mrózek, K; Kohlschmidt, J; Nicolet, D; Orwick, S; Walker, C J; Kroll, K W; Blachly, J S; Carroll, A J; Kolitz, J E; Powell, B L; Wang, E S; Stone, R M; de la Chapelle, A; Byrd, J C; Bloomfield, C D

    2017-10-01

    Recurrent chromosomal abnormalities and gene mutations detected at the time of diagnosis of acute myeloid leukemia (AML) are associated with particular disease features, treatment response and survival of AML patients, and are used to denote specific disease entities in the World Health Organization classification of myeloid neoplasms and acute leukemia. However, large studies that integrate cytogenetic and comprehensive mutational information are scarce. We created a comprehensive oncoprint of mutations associated with recurrent cytogenetic findings by combining the information on mutational patterns of 80 cancer- and leukemia-associated genes with cytogenetic findings in 1603 adult patients with de novo AML. We show unique differences in the mutational profiles among major cytogenetic subsets, identify novel associations between recurrent cytogenetic abnormalities and both specific gene mutations and gene functional groups, and reveal differences in cytogenetic and mutational features between patients younger than 60 years and those aged 60 years or older. The identified associations between cytogenetic and molecular genetic data may help guide mutation testing in AML, and result in more focused application of targeted therapy in patients with de novo AML.

  3. Occurrence and prognostic significance of cytogenetic evolution in patients with multiple myeloma

    Science.gov (United States)

    Binder, M; Rajkumar, S V; Ketterling, R P; Dispenzieri, A; Lacy, M Q; Gertz, M A; Buadi, F K; Hayman, S R; Hwa, Y L; Zeldenrust, S R; Lust, J A; Russell, S J; Leung, N; Kapoor, P; Go, R S; Gonsalves, W I; Kyle, R A; Kumar, S K

    2016-01-01

    Cytogenetic evaluation at the time of diagnosis is essential for risk stratification in multiple myeloma, however little is known about the occurrence and prognostic significance of cytogenetic evolution during follow-up. We studied 989 patients with multiple myeloma, including 304 patients with at least two cytogenetic evaluations. Multivariable-adjusted regression models were used to assess the associations between the parameters of interest and cytogenetic evolution as well as overall survival. The prognostic significance of baseline cytogenetic abnormalities was most pronounced at the time of diagnosis and attenuated over time. In the patients with serial cytogenetic evaluations, the presence of t(11;14) at the time of diagnosis was associated with decreased odds of cytogenetic evolution during follow-up (odds ratio (OR)=0.22, 95% confidence interval (CI)=0.09–0.56, P=0.001), while the presence of at least one trisomy or tetrasomy was associated with increased odds (OR=2.96, 95% CI=1.37–6.42, P=0.006). The development of additional abnormalities during the 3 years following diagnosis was associated with increased subsequent mortality (hazard ratio=3.31, 95% CI=1.73–6.30, P<0.001). These findings emphasize the importance of the underlying clonal disease process for risk assessment and suggest that selected patients may benefit from repeated risk stratification. PMID:26967818

  4. Cytogenetic Monitoring of Mammals of Semipalatinsk Test Site

    International Nuclear Information System (INIS)

    Zhapbasov, R.Zh.; Tusupbaev, V.I.; Karimbaeva, K.S.; Seisebaev, A.T.; Nurgalieva, K.G.; Chenal, C.

    1998-01-01

    The cytogenetic monitoring of the natural populations of mammals living under conditions of environment radioactive contamination is the simplest method to study the genetic consequences of nuclear tests. This work presents the preliminary results of the cytogenetic monitoring of the natural populations of rodents (Allactaga maior Kerr., Allactaga saltafor Eversm., Citellus erytrogenus Brandt) and domestic sheep (Ovis aries). The exposure of gonads is considered to be the most hazardous among the consequences of the chronic ionizing exposure since the exposure of gonads can cause not only somatic damages but also hereditary ones transferring to the farther generations, The genetic damage assessment of rodent reproductive cells was performed using the morphological test for abnormal form of the sperm head. It is generally accepted, that spermatogenesis disorders, which result in abnormal spermatozoa, are bound to the genetic disturbances during mitotic and meiotic division stages of male sex cells. The analysis of data obtained shows that the rodent males living on the radioactive contaminated sites (Balapan, Degelen) have the higher numbers of abnormal spermatozoa. So, the Allactaga maior taken from the sites with the gamma background of 250 μr/h showed the frequency of abnormal spermatozoa within 48.27 - 62.73 %. This value for the control animals from the gamma background of 11 - 16 μr/h did not exceed 5.8 %. The most objective and sensitive method for assessment of environmental contamination genetic consequences for the natural populations is to determine the damages of the cell genetic apparatus, e. g. the frequency of the visible changes in chromosome number and structure. The cytogenetic study of animals showed that the significant number of marrow cells of rodents and sheep living on the technical fields of the Test Site are the metaphase cells with polyploid (0.98 - 3.50 %) and aneuploidy (11.03 -19.72 %) chromosomal sets. There were also found the

  5. Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

    DEFF Research Database (Denmark)

    Therkelsen, A J; Jensen, P K; Hertz, Jens Michael

    1988-01-01

    First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all...... of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic...

  6. Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition.

    Science.gov (United States)

    Simons, A; Shaffer, L G; Hastings, R J

    2013-01-01

    The latest edition of the International System for Human Cytogenetic Nomenclature, ISCN 2013, has recently been published following a thorough revision of the 2009 issue and the incorporation of suggestions from the community by the current standing committee. This review will highlight the multiple nomenclature changes in the respective chapters of the 2013 version compared to the previous version of the ISCN published in 2009. These highlights are meant as a guide for the cytogeneticist to assist in the transition in the use of this updated nomenclature for describing cytogenetic and molecular cytogenetic findings in both clinical and research reports.

  7. Both Automation and Paper.

    Science.gov (United States)

    Purcell, Royal

    1988-01-01

    Discusses the concept of a paperless society and the current situation in library automation. Various applications of automation and telecommunications are addressed, and future library automation is considered. Automation at the Monroe County Public Library in Bloomington, Indiana, is described as an example. (MES)

  8. Cytogenetic and molecular analysis of cellular atypical mesoblastic nephroma.

    Science.gov (United States)

    Speleman, F; van den Berg, E; Dhooge, C; Oosterhuis, W; Redeker, B; De Potter, C R; Tamminga, R Y; Van Roy, N; Mannens, M

    1998-03-01

    Cytogenetic and molecular analyses were performed on three cellular (atypical) congenital mesoblastic nephromas (CMNs). Two cases had trisomy 11; in one, it was the sole karyotypic abnormality, and the other had additional numerical changes as well as an isochromosome for the long arm of chromosome 1. Markers for the 11p13 and 11p15 loci were present in three copies in these two CMNs. In the third CMN, two apparently normal copies of chromosome 11 were present together with additional numerical and structural chromosome changes. Because loss of heterozygosity was observed for both 11p13 and 11p15 markers, we assume that mitotic recombination occurred. Duplication and loss of imprinting of genes at 11p15 has also been observed frequently in Wilms' tumor. We therefore propose that CMN and Wilms' tumor might share common genetic pathways.

  9. Cytogenetic characterization of Partamona cupira (Hymenoptera, Apidae by fluorochromes

    Directory of Open Access Journals (Sweden)

    Jefferson de Brito Marthe

    2010-01-01

    Full Text Available Four colonies of the stingless bee Partamona cupira (Hymenoptera: Apidae were cytogenetically analyzed using conventional staining and the fluorochromes CMA3 e DAPI. The females have 2n = 34 chromosomes (2K=32+2. Some females, however, presented an additional large B acrocentric chromosome, to a total of 2n = 35. Chromosome B and the chromosomal pairs 2, 9 and 10 showed CMA3+ bands, indicating an excess of CG base-pairs. A clear association was verified between the P. helleri B chromosome SCAR marker and the presence of a B chromosome in P. cupira. The data obtained suggests that B chromosomes in P. helleri and P. cupira share a common origin.

  10. Cytogenetic, clinical, and cytologic characteristics of radiotherapy-related leukemias

    International Nuclear Information System (INIS)

    Philip, P.; Pedersen-Bjergaard, J.

    1988-01-01

    From 1978 to 1985, we observed eight cases of acute nonlymphocytic leukemia or preleukemia, three cases of acute lymphoblastic leukemia, and three cases of chronic myeloid leukemia in patients previously treated exclusively with radiotherapy for other tumor types. The latent period from administration of radiotherapy to development of leukemia varied between 12 and 243 months. Clonal chromosome aberrations reported previously as characteristic of acute nonlymphocytic leukemia following therapy with alkylating agents were observed in three of the eight patients with acute nonlymphocytic leukemia (5q- and -7) and in two of the three patients with acute lymphoblastic leukemia (-7 and 12p-). All three patients with radiotherapy-related chronic myeloid leukemia presented a t(9;22)(q34;q11). The results suggest that cytogenetic characteristics may reflect the etiology in radiation-induced acute leukemias, whereas radiation-related chronic myeloid leukemia does not seem to differ chromosomally from de novo cases of the disease

  11. Karyotype Learning Center: A Software For Teaching And Learning Cytogenetics

    Directory of Open Access Journals (Sweden)

    Joelma Freire De Mesquita

    2004-05-01

    Full Text Available The in vitro cultivation of human cells is an essential part of the work of every diagnostic cytoge-netics laboratory. Almost all human cytogenetic studies involve the examination of dividing bloodcell population by blocking cell division at metaphase with subsequent processing and staining bybanding techniques. The chromosome constitution is described as Karyotype that states the totalnumber of chromosomes and the sex chromosome constitution. Karyotypes are prepared by cuttingup a photograph of the spread metaphase chromosomes, matching up homologous chromosomes andsticking them back down on a card or nowadays more often by getting an image analysis computerto do the job. Chromosomes are identied by their size, centromere position and banding pattern.Teaching a student how to detect and interpret even the most common chromosome abnormaliti-es is a major challenge: mainly, in a developing country where the laboratorial facilities are notalways available for a big number of students. Therefore, in this work we present an educationalsoftware for teaching undergraduate students of Medical and Life Sciences Courses how to arrangenormal and abnormal chromosomes in the form of karyotype. The user, using drag-and-drop, is da-red to match up homologous chromosome. For that, we have developed a free full access web site(http://www.biomol.net/cariotipo/ for hosting the software. The latter has proved to be light andfast even under slow dial-up connections. This web site also oers a theoretical introductory sectionwith basic concepts about karyotype. Up to now the software has been successfully applied to un-dergraduate courses at the University of Rio de Janeiro (UNIRIO. The students have approved thesoftware; to them the similarities with the well-known game solitaire turns the exercise more excitingand provides additional stimulus to learn and understand karyotype. Professors have also used thesoftware as complementary material in their regular classes

  12. Myeloid sarcomas: a histologic, immunohistochemical, and cytogenetic study

    Directory of Open Access Journals (Sweden)

    Rodgers William H

    2007-10-01

    Full Text Available Abstract Context. - Myeloid sarcoma (MS is a neoplasm of immature granulocytes, monocytes, or both involving any extramedullary site. The correct diagnosis of MS is important for adequate therapy, which is often delayed because of a high misdiagnosis rate. Objective. - To evaluate the lineage differentiation of neoplastic cells in MS by immunohistochemistry, and to correlate the results with clinicopathologic findings and cytogenetic studies. Design. - Histologic and immunohistochemical examinations were performed on formalin-fixed paraffin-embedded tissue samples from 13 cases of MS. They were classified according to the World Health Organization criteria. Chromosomal analysis data were available in 11 cases. Clinical, pathological, and cytogenetic findings were analyzed. Results. - The study included six male and seven female patients with an age range of 25 to 72 years (mean, 49.3 years and a male to female ratio of 1:1.2. MS de novo occurred in 4/13 (31% of cases examined. The most sensitive immunohistochemical markers were CD43 and lysozyme present in all cases with MS (13/13, 100%. All de novo MS showed a normal karyotype, monoblastic differentiation, and lack of CD34. The most common chromosomal abnormalities in MS associated with a hematopoietic disorder were trisomy 8 and inv(16 (2/11, 18%. Conclusion. - An immunohistochemical panel including CD43, lysozyme, myeloperoxidase (MPO, CD68 (or CD163, CD117, CD3 and CD20 can successfully identify the vast majority of MS variants in formalin-fixed paraffin-embedded tissue sections. The present report expands the spectrum of our knowledge showing that de novo MS has frequent monoblastic differentiation and frequently carries a normal karyotype.

  13. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    NARCIS (Netherlands)

    Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E

    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing

  14. Cytogenetical and dermatoglyphic studies in patients affected by steenert's myotonic dystrophy

    Directory of Open Access Journals (Sweden)

    R. B. Levisky

    1978-09-01

    Full Text Available Cytogenetic and dermatoglyphic studies were performed in 10 patients affected by Steinert's myotonic dystrophy. No anomalies were found in karyotype and dermatoglyphs in these patients, except for an occasional chromosomal translocation.

  15. Molecular cytogenetics of cutaneous melanocytic lesions - diagnostic, prognostic and therapeutic aspects

    NARCIS (Netherlands)

    Blokx, Willeke Am M.; van Dijk, Marcory C. R. F.; Ruiter, Dirk J.

    This review intends to update current knowledge regarding molecular cytogenetics in melanocytic tumours with a focus on cutaneous melanocytic lesions. Advantages and limitations of diverse, already established methods, such as (fluorescence) in situ hybridization and mutation analysis, to detect

  16. Molecular cytogenetics of cutaneous melanocytic lesions - diagnostic, prognostic and therapeutic aspects.

    NARCIS (Netherlands)

    Blokx, W.A.M.; Dijk, M.C.R.F. van; Ruiter, D.J.

    2010-01-01

    This review intends to update current knowledge regarding molecular cytogenetics in melanocytic tumours with a focus on cutaneous melanocytic lesions. Advantages and limitations of diverse, already established methods, such as (fluorescence) in situ hybridization and mutation analysis, to detect

  17. Cytogenetic effects of the action of ionizing radiations on human populations

    International Nuclear Information System (INIS)

    Shevchenko, V.A.; Snigiryova, G.P.

    1998-01-01

    The objective of the present work is the analysis of available materials on practical application of the cytogenetic method for dose assessment in people participating in the post-accidental rescue and clean-up operations in Chernobyl (so-called 'liquidators'). These materials will be compared with the results of cytogenetic investigations performed in other regions of Russia exposed to radiation (the village Muslyumovo in the Chelyabinsk region, several localities of the Altai Territory in the vicinity of the Semipalatinsk nuclear test site) as well as with the results of cytogenetic monitoring in the population living around the Three Mile Island (TMI) nuclear power plant (Pennsylvania, USA) where a nuclear accident occurred in 1979. The work presents the results of cytogenetic investigations obtained by the traditional method of analysis of the frequency of unstable chromosome aberrations and by the FISH method based on the frequency of stable chromosome aberrations. (J.P.N.)

  18. A new Bayesian model applied to cytogenetic partial body irradiation estimation

    International Nuclear Information System (INIS)

    Higueras, Manuel; Puig, Pedro; Ainsbury, Elizabeth A.; Vinnikov, Volodymyr A.; Rothkamm, Kai

    2016-01-01

    A new zero-inflated Poisson model is introduced for the estimation of partial body irradiation dose and fraction of body irradiated. The Bayes factors are introduced as tools to help determine whether a data set of chromosomal aberrations obtained from a blood sample reflects partial or whole body irradiation. Two examples of simulated cytogenetic radiation exposure data are presented to demonstrate the usefulness of this methodology in cytogenetic biological dosimetry. (authors)

  19. A new Bayesian model applied to cytogenetic partial body irradiation estimation.

    Science.gov (United States)

    Higueras, Manuel; Puig, Pedro; Ainsbury, Elizabeth A; Vinnikov, Volodymyr A; Rothkamm, Kai

    2016-03-01

    A new zero-inflated Poisson model is introduced for the estimation of partial body irradiation dose and fraction of body irradiated. The Bayes factors are introduced as tools to help determine whether a data set of chromosomal aberrations obtained from a blood sample reflects partial or whole body irradiation. Two examples of simulated cytogenetic radiation exposure data are presented to demonstrate the usefulness of this methodology in cytogenetic biological dosimetry. © Crown copyright 2015.

  20. An Automated Method to Quantify Radiation Damage in Human Blood Cells

    Energy Technology Data Exchange (ETDEWEB)

    Gordon K. Livingston, Mark S. Jenkins and Akio A. Awa

    2006-07-10

    Cytogenetic analysis of blood lymphocytes is a well established method to assess the absorbed dose in persons exposed to ionizing radiation. Because mature lymphocytes circulate throughout the body, the dose to these cells is believed to represent the average whole body exposure. Cytogenetic methods measure the incidence of structural aberrations in chromosomes as a means to quantify DNA damage which occurs when ionizing radiation interacts with human tissue. Methods to quantify DNA damage at the chromosomal level vary in complexity and tend to be laborious and time consuming. In a mass casualty scenario involving radiological/nuclear materials, the ability to rapidly triage individuals according to radiation dose is critically important. For high-throughput screening for dicentric chromosomes, many of the data collection steps can be optimized with motorized microscopes coupled to automated slide scanning platforms.

  1. Prognostic implications of genetic aberrations in acute myelogenous leukemia with normal cytogenetics.

    Science.gov (United States)

    Ghanem, Hady; Tank, Niki; Tabbara, Imad A

    2012-01-01

    Acute myelogenous leukemia (AML) is a genetically heterogeneous disease in which somatic mutations, that disturb cellular growth, proliferation, and differentiation, accumulate in hematopoietic progenitor cells. Cytogenetic findings, at diagnosis, have been proven to be one of the most important prognostic indicators in AML. About half of the patients with AML are found to have "normal" cytogenetic analysis by standard culture techniques. These patients are considered as an intermediate risk group. Cytogenetically normal AML (CN-AML) is the largest cytogenetic risk group, and the variation in clinical outcome of patients in this group is greater than in any other cytogenetic group. Besides mutation testing, age and presenting white blood cell count are important predictors of overall survival, suggesting that other factors independent of cytogenetic abnormalities, contribute to the outcome of patients with AML. The expanding knowledge at the genetic and molecular levels is helping define several subgroups of patients with CN-AML with variable prognosis. In this review, we describe the clinical and prognostic characteristics of CN-AML patients as a group, as well as the various molecular and genetic aberrations detected in these patients and their clinical and prognostic implications. Copyright © 2011 Wiley Periodicals, Inc.

  2. [Cytogenetic Abnormalities and Outcomes of 117 Patients with Multiple Myeloma Detected by FISH].

    Science.gov (United States)

    Zhai, Bing; Zou, Dan-Dan; Yan, Jian-Jun; Wang, Nan; Wang, Li-Li; Zhu, Hong-Li; Huang, Wen-Rong; Yu, Li

    2016-02-01

    To analyze the cytogenetic abnormalities and prognostic outcomes of patients with multiple myeloma (MM) detected by fluorescence in situ hybridization (FISH). The clinical record of 117 newly-diagnosed patients with MM treated in department of hematology and geriatric hematology of our hospital for 7 years were collected, and their molecular cytogenetic abnormalities detected by FISH and the clinical outcome were analyzed retrospectively. The detected rate of cytogenetic abnormality was 76.9%(90/117), the most common abnormality deteted by FISH was 1q21+ (71.1%), followed by 13q- (56.6%). The cross comparison method showed that 13q- and 17p13-, t(11;14) and t(4;14) were related respectively. All the patients with cytogenetic abnormalities showed no significant difference in the overall survival from cytogenetic normal patients. The positive rate of molecular cytogenetic abnormalities detected by FISH in MM patients is high, but data from larger and longer studies are needed to evaluate the prognostic outcomes.

  3. [EVALUATION OF THE CYTOGENETIC AND MUTAGEN-MODIFYING ACTIVITY OF CAFFEINE IN MOUSE BONE MARROW CELLS].

    Science.gov (United States)

    Durnev, A D; Kulakova, A V; Zhanataev, A K; Oganesiants, L A

    2015-01-01

    The cytogenetic and mutagen-modifying activity of caffeine was studied with the method of chromosomal aberrations in bone marrow cells of mice hybrids F1 CBAxC57BL/6. Caffeine per se was administered intragastrically or intraperitoneally, and in combination with mutagens--intragastrically. Mutagens injected intraperitoneally. Caffeine at doses of 10 and 100 mg/kg (single dose) and 10 mg/kg (five days) in parenteral administration and oral introduction failed to possess cytogenetic activity. In combination with mutagens caffeine (1, 10 and 100 mg/kg) had no effect on the cytogenetic activity of dioxydine (200 mg/kg/intraperitoneally) for a single coadministration, five-day pre or five-day coadministration. In combination with other mutagens under the same processing conditions caffeine at doses of 10 and 100 mg/kg significantly increased cytogenetic effects of cyclophosphamide (20 mg/kg) in the pretreatment of the animals and at the dose of 100 mg/kg significantly attenuated the cytogenetic effect of cisplatin (5 mg/kg) in single and repeated co-administration. Thus we have shown the absence of caffeine cytogenetic activity in vivo and showed the multidirectional effect of caffeine in doses far exceeding its daily consumption, to the manifestation ofcytogenetic effects of certain chemical mutagens in some modes of processing animals.

  4. Autonomy and Automation

    Science.gov (United States)

    Shively, Jay

    2017-01-01

    A significant level of debate and confusion has surrounded the meaning of the terms autonomy and automation. Automation is a multi-dimensional concept, and we propose that Remotely Piloted Aircraft Systems (RPAS) automation should be described with reference to the specific system and task that has been automated, the context in which the automation functions, and other relevant dimensions. In this paper, we present definitions of automation, pilot in the loop, pilot on the loop and pilot out of the loop. We further propose that in future, the International Civil Aviation Organization (ICAO) RPAS Panel avoids the use of the terms autonomy and autonomous when referring to automated systems on board RPA. Work Group 7 proposes to develop, in consultation with other workgroups, a taxonomy of Levels of Automation for RPAS.

  5. An automated swimming respirometer

    DEFF Research Database (Denmark)

    STEFFENSEN, JF; JOHANSEN, K; BUSHNELL, PG

    1984-01-01

    An automated respirometer is described that can be used for computerized respirometry of trout and sharks.......An automated respirometer is described that can be used for computerized respirometry of trout and sharks....

  6. Configuration Management Automation (CMA) -

    Data.gov (United States)

    Department of Transportation — Configuration Management Automation (CMA) will provide an automated, integrated enterprise solution to support CM of FAA NAS and Non-NAS assets and investments. CMA...

  7. Automation in College Libraries.

    Science.gov (United States)

    Werking, Richard Hume

    1991-01-01

    Reports the results of a survey of the "Bowdoin List" group of liberal arts colleges. The survey obtained information about (1) automation modules in place and when they had been installed; (2) financing of automation and its impacts on the library budgets; and (3) library director's views on library automation and the nature of the…

  8. Cancer predictive value of cytogenetic markers used in occupational health surveillance programs: a report from an ongoing study by the European Study Group on Cytogenetic Biomarkers and Health

    DEFF Research Database (Denmark)

    Hagmar, L; Bonassi, S; Strömberg, U

    1998-01-01

    The cytogenetic endpoints in peripheral blood lymphocytes: chromosomal aberrations (CA), sister chromatid exchange (SCE) and micronuclei (MN) are established biomarkers of exposure for mutagens or carcinogens in the work environment. However, it is not clear whether these biomarkers also may serv......, occupational exposures and smoking, will be assessed in a case-referent study within the study base....

  9. Cancer predictive value of cytogenetic markers used in occupational health surveillance programs: a report from an ongoing study by the European Study Group on Cytogenetic Biomarkers and Health

    DEFF Research Database (Denmark)

    Hagmar, L; Bonassi, S; Strömberg, U

    1998-01-01

    The cytogenetic endpoints in peripheral blood lymphocytes: chromosomal aberrations (CA), sister chromatid exchange (SCE) and micronuclei (MN) are established biomarkers of exposure for mutagens or carcinogens in the work environment. However, it is not clear whether these biomarkers also may serv...

  10. Cancer predictive value of cytogenetic markers used in occupational health surveillance programs. A report from an ongoing study by the European Study Group on Cytogenetic Biomarkers and Health

    International Nuclear Information System (INIS)

    Hagmar, Lars; Stroemberg, Ulf; Mikoczy, Zoli; Tinnerberg, Hakan; Skerfving, Staffan; Bonassi, Stefano; Lando, Cecilia; Hansteen, Inger-Lise; Montagud, Alicia Huici; Knudsen, Lisbeth; Norppa, Hannu; Reuterwall, Christina; Broegger, Anton; Forni, Alessandra; Hoegstedt, Benkt; Lambert, Bo; Mitelman, Felix; Nordenson, Ingrid; Salomaa, Sisko

    1998-01-01

    The cytogenetic endpoints in peripheral blood lymphocytes: chromosomal aberrations (CA), sister chromatid exchange (SCE) and micronuclei (MN) are established biomarkers of exposure for mutagens or carcinogens in the work environment. However, it is not clear whether these biomarkers also may serve as biomarkers for genotoxic effects which will result in an enhanced cancer risk. In order to assess this problem, Nordic and Italian cohorts were established, and preliminary results from these two studies indicated a predictive value of CA frequency for cancer risk, whereas no such associations were observed for SCE or MN. A collaborative study between the Nordic and Italian research groups, will enable a more thorough evaluation of the cancer predictivity of the cytogenetic endpoints. We here report on the establishment of a joint data base comprising 5271 subjects, examined 1965-1988 for at least one cytogenetic biomarker. Totally, 3540 subjects had been examined for CA, 2702 for SCE and 1496 for MN. These cohorts have been followed-up with respect to subsequent cancer mortality or cancer incidence, and the expected values have been calculated from rates derived from the general populations in each country. Stratified cohort analyses will be performed with respect to the levels of the cytogenetic biomarkers. The importance of potential effect modifiers such as gender, age at test, and time since test, will be evaluated using Poisson regression models. The remaining two potential effect modifiers, occupational exposures and smoking, will be assessed in a case-referent study within the study base

  11. Diagnostic and prognostic significance of cytogenetics in adult primary myelodysplastic syndromes.

    Science.gov (United States)

    Jotterand, M; Parlier, V

    1996-10-01

    Cytogenetic analysis has proven to be a mandatory part of the diagnosis of myelodysplastic syndromes (MDS) as well as a major indicator for predicting clinical course and outcome. This review concentrates on the cytogenetic classifications, the incidence and types of chromosome defects and the prognostic significance of the karyotype in adult primary MDS. Two cytogenetic classifications are currently used: one is based on the karyotype complexity (normal, single, double or complex defects), the other on clonal status (all metaphases normal, abnormal or admixture of normal and abnormal clones). Chromosome abnormalities are of both numerical and structural types. Aside from the 5q-syndrome, no specific clinico-cytogenetic entity has been reported. However, several distinct clinical and cellular features have been identified that correlate with the presence of specific chromosome defects such as inv(3)/t(3;3), +6, t(5;12), del(17p) and del(20q). The presence of complex defects is associated with reduced survival and a high risk of leukemic transformation. Among single defects, specific abnormalities may define distinct prognostic groups. Patients with del(5q) as a sole chromosome defect and a refractory anemia without excess of blasts have a favourable prognosis. For patients with trisomy 8 or monosomy 7 there may be distinct types of clinical evolution. Most patients with the 3q21q26 syndrome have a short survival. The presence of two chromosome defects may constitute an independent cytogenetic entity probably associated with relative poor prognosis. Karyotypic evolution generally represents a poor risk factor. The combination of cytogenetics with clinical and hematological features has proven to provide for a better prediction of patients' survival, leukemic transformation and response to treatment. Several scoring systems have been developed. They have to be improved by the study of new patients according to strict clinical and cytogenetic criteria and by the

  12. Array comparative genomic hybridization and cytogenetic analysis in pediatric acute leukemias

    Science.gov (United States)

    Dawson, A.J.; Yanofsky, R.; Vallente, R.; Bal, S.; Schroedter, I.; Liang, L.; Mai, S.

    2011-01-01

    Most patients with acute lymphocytic leukemia (all) are reported to have acquired chromosomal abnormalities in their leukemic bone marrow cells. Many established chromosome rearrangements have been described, and their associations with specific clinical, biologic, and prognostic features are well defined. However, approximately 30% of pediatric and 50% of adult patients with all do not have cytogenetic abnormalities of clinical significance. Despite significant improvements in outcome for pediatric all, therapy fails in approximately 25% of patients, and these failures often occur unpredictably in patients with a favorable prognosis and “good” cytogenetics at diagnosis. It is well known that karyotype analysis in hematologic malignancies, although genome-wide, is limited because of altered cell kinetics (mitotic rate), a propensity of leukemic blasts to undergo apoptosis in culture, overgrowth by normal cells, and chromosomes of poor quality in the abnormal clone. Array comparative genomic hybridization (acgh—“microarray”) has a greatly increased genomic resolution over classical cytogenetics. Cytogenetic microarray, which uses genomic dna, is a powerful tool in the analysis of unbalanced chromosome rearrangements, such as copy number gains and losses, and it is the method of choice when the mitotic index is low and the quality of metaphases is suboptimal. The copy number profile obtained by microarray is often called a “molecular karyotype.” In the present study, microarray was applied to 9 retrospective cases of pediatric all either with initial high-risk features or with at least 1 relapse. The conventional karyotype was compared to the “molecular karyotype” to assess abnormalities as interpreted by classical cytogenetics. Not only were previously undetected chromosome losses and gains identified by microarray, but several karyotypes interpreted by classical cytogenetics were shown to be discordant with the microarray results. The

  13. Molecular cytogenetic characterization of a human thyroid cancercell line

    Energy Technology Data Exchange (ETDEWEB)

    Weier, Heinz-Ulrich G.; Tuton, Tiffany B.; Ito, Yuko; Chu, LisaW.; Lu, Chung-Mei; Baumgartner, Adolf; Zitzelsberger, Horst F.; Weier,Jingly F.

    2006-01-04

    The incidence of papillary thyroid carcinoma (PTC) increases significantly after exposure of the head and neck region to ionizing radiation, yet we know neither the steps involved in malignant transformation of thyroid epithelium nor the specific carcinogenic mode of action of radiation. Such increased tumor frequency became most evident in children after the 1986 nuclear accident in Chernobyl, Ukraine. In the twelve years following the accident, the average incidence of childhood PTCs (chPTC) increased over one hundred-fold compared to the rate of about 1 tumor incidence per 10{sup 6} children per year prior to 1986. To study the etiology of radiation-induced thyroid cancer, we formed an international consortium to investigate chromosomal changes and altered gene expression in cases of post-Chernobyl chPTC. Our approach is based on karyotyping of primary cultures established from chPTC specimens, establishment of cell lines and studies of genotype-phenotype relationships through high resolution chromosome analysis, DNA/cDNA micro-array studies, and mouse xenografts that test for tumorigenicity. Here, we report the application of fluorescence in situ hybridization (FISH)-based techniques for the molecular cytogenetic characterization of a highly tumorigenic chPTC cell line, S48TK, and its subclones. Using chromosome 9 rearrangements as an example, we describe a new approach termed ''BAC-FISH'' to rapidly delineate chromosomal breakpoints, an important step towards a better understanding of the formation of translocations and their functional consequences.

  14. Cytogenetic study of Philippine guppy (Lebistes reticulatus Peters)

    International Nuclear Information System (INIS)

    Gregorio, J.S.

    1982-06-01

    One means of evaluating the hazards caused by radioactivity on the genomes of aquatic organisms is to screen the exposed cells for chromosome aberrations. Since fish comprise the majority of aquatic organisms, it will be very interesting to prepare and establish a baseline study of the chromosome numbers of this species. The Philippine guppy (Lebistes reticulatus Peter) collected from the different sampling areas were studied using the gill epithelial cells. These were studied to determine the chromosome number and the fundamental number of the species; to study the chromosome morphology and its karyotype. Cytogenetic techniques were used to analyze the chromosomes of the guppy. Of the karyotypes seen, it was concluded that the guppies collected from the three areas show no considerable differences. Apparently, no chromosomal abnormalities were seen in the cells analyzed. The karyotype was constructed to illustrate the chromosome morphology of the guppy. This constructed karyotype of the guppy can be used as a model for determining chromosome aberration effects on the component of the aquatic ecosystems. (author)

  15. [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

    Science.gov (United States)

    Kunze, J; Tolksdorf, M; Wiedemann, H R

    1975-01-01

    We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome. The prominent symptoms are: anal stenosis, preauricular tags and pits, coloboma of the iris, doubling of the pelvis and ureter on both sides, vesicourethral reflux on the right side and normal mental development. Leucocyte alkaline phosphatase is normal. Chromosomal analysis shows a supernumerary submetacentric chromosome. This extra chromosome is smaller than the G-group chromosomes and has satellites on the short and long arms. Autoradiography after 3H-thymidine incorporation shows a late-labeling marker chromosome. After using the Giemsa-banding technique, the chromatides demonstrate dark bandings with only soft, unstained satellites. With the fluorescence method, one can see spotlike fluorescence of the satellites on both arms and diffuse fluorescence of the hetero-chromatic segments. In addition, the C-bandings demonstrate a homogeneous dark staining of the chromatids, but we did not find stained satellites. Using the Giemsa-11 technique one can see the 47th chromosome with predominantly heterochromatic parts, but small euchromatic segments are visible between them. Satellites are unstained. Using currently accepted cytogenetical methods, it is not possible to identify the origin of this supernumerary marker chromosome.

  16. Cytogenetic study in workers occupationally exposed to mercury fulminate.

    Science.gov (United States)

    Anwar, W A; Gabal, M S

    1991-05-01

    This study was conducted to evaluate the cytogenetic effects in male workers exposed to mercury fulminate. A total of 29 male workers and 29 age- and sex-matched controls were examined. The mean mercury level in urine from the exposed workers was 123.2 +/- 54.1 micrograms/l compared with 39.2 +/- 11.1 micrograms/l in the control group. The difference was statistically significant (P less than 0.001). Metaphase chromosomes were studied. Micronucleated peripheral blood lymphocytes were also analyzed in cytochalasin B blocked binucleated lymphocytes. The percentage of metaphases with chromosomal aberrations was significantly higher (P less than 0.001) in the exposed group (6.1 +/- 2.3) compared to the control group (2.8 +/- 0.7). The chromosomal aberrations detected were in the form of gaps, breaks and fragments. A significant increase in the incidence of micronucleated lymphocytes was found among the exposed group (7.1 +/- 4.2) compared to the control group (5.4 +/- 2.2) (P less than 0.01). The detected chromosomal damage correlated neither with the duration of exposure nor with the urinary mercury level.

  17. Phenotypic and Cytogenetic Variety of Pure Partial Trisomy

    Directory of Open Access Journals (Sweden)

    Noruzinia Mehrdad

    2009-10-01

    Full Text Available Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocations and consequently the phenotype of patients is not typical of pure partial trisomy 16p. R-banding and fluorescence in situ hybridization (FISH in our patients were in favour of de novo pure partial trisomy of 16p. Furthure clinical and paraclinical analysis of our three cases in addition to a review of literature and analysis of published clinical and cytogenetic data on five cases of pure partial duplications of chromosome 16p reported until now lead to the delineation of three groups of duplications. Patients with short proximal 16p11~p12 euchromatic duplication considered as "silent" duplication and no clinical anomaly are included in the first group. The second group with a larger 16p11-p12~p13 duplication is caracterised by a particular phenotype including severe mental retardation, dysmorphism, variable malformations and recurrent infections. The third group has terminal 16p13-pter duplication and is not well defined to date. Based on our cases and reported cases of pure partial trisomy of 16p in the literature we propose diagnostic measures in case of an elongated 16p chromosome encountered in prenatal chromosome analysis.

  18. Cytogenetic and molecular profile of endometrial stromal sarcoma.

    Science.gov (United States)

    Micci, Francesca; Gorunova, Ludmila; Agostini, Antonio; Johannessen, Lene E; Brunetti, Marta; Davidson, Ben; Heim, Sverre; Panagopoulos, Ioannis

    2016-11-01

    Recent cytogenetic and molecular investigations have improved our understanding of endometrial stromal tumors, including sarcomas (ESS), and helped redefine their classification into more pathogenetically meaningful categories. Because much more can be gained through such studies, we add information on another 22 ESS examined by karyotyping, PCR analysis, expression array analysis, and transcriptome sequencing. In spite of the known preference for certain pathogenetic pathways, we found considerable genetic heterogeneity in high-grade (HG) as well as in low-grade (LG) ESS. Not all HG tumors showed a YWHAE-NUTM chimeric transcript and as many as six LGESS showed no hitherto known ESS-related fusions. Among the transcripts identified by transcriptome sequencing and verified by Sanger sequencing, new variants of ZC3H7-BCOR and its reciprocal BCOR-ZC3H7 were identified as was involvement of the CREBBP and MLLT4 genes (both well known leukemia-related genes) in two new fusions. FISH analysis identified a known EPC1-PHF1 fusion which led to the identification of a new variant at the molecular level. The fact that around 70 genes were found differentially expressed, by microarray analysis, when comparing LGESS showing ESS-related fusions with LGESS without such transcripts, underscores the biochemical importance of the observed genetic heterogeneity and hints that new subgroups/entities in LGESS still remain undiscovered. © 2016 The Authors. Genes, Chromosomes & Cancer Published by Wiley Periodicals, Inc. © 2016 The Authors. Genes, Chromosomes & Cancer Published by Wiley Periodicals, Inc.

  19. [Cytogenetic features of teenage girls with secondary amenorrhea].

    Science.gov (United States)

    Nachetova, T A; Nefidova, V E

    2014-11-01

    Some features of the chromosome apparatus status were studied in 25 adolescent girls, aged 14-18, with secondary amenorrhea and in 29 girls of the same age with a regular menstrual cycle. Materials for cytogenetic analysis were preparations of chromosomes at the stage of metaphase obtained from the culture of the peripheral blood lymphocytes. The technique of the culture preparation was carried out according to the standard method. 2225 metaphase plates were analyzed in girls with secondary amenorrhea, and 2603 plates were tested in their healthy age-mates. An increased total level of chromosomal aberrations and a rise in the frequency of disorders in the chromatid, chromosome and genome types of peripheral blood lymphocytes have been registered in the examined persons as compared with their healthy age-mates. We have shown, that polyploid cell registered in 15 times oftener in adolescent girls with SA as compared with healthy girls. It can be assumed that some marked changes in the frequency of chromosomal aberrations in patients with secondary amenorrhea and in their healthy age-mates may arise both as a result of exposure to the multiple environmental factors and disorders of rather complicated processes of DNA damages reparation.

  20. Automation in Clinical Microbiology

    Science.gov (United States)

    Ledeboer, Nathan A.

    2013-01-01

    Historically, the trend toward automation in clinical pathology laboratories has largely bypassed the clinical microbiology laboratory. In this article, we review the historical impediments to automation in the microbiology laboratory and offer insight into the reasons why we believe that we are on the cusp of a dramatic change that will sweep a wave of automation into clinical microbiology laboratories. We review the currently available specimen-processing instruments as well as the total laboratory automation solutions. Lastly, we outline the types of studies that will need to be performed to fully assess the benefits of automation in microbiology laboratories. PMID:23515547

  1. Automation of industrial bioprocesses.

    Science.gov (United States)

    Beyeler, W; DaPra, E; Schneider, K

    2000-01-01

    The dramatic development of new electronic devices within the last 25 years has had a substantial influence on the control and automation of industrial bioprocesses. Within this short period of time the method of controlling industrial bioprocesses has changed completely. In this paper, the authors will use a practical approach focusing on the industrial applications of automation systems. From the early attempts to use computers for the automation of biotechnological processes up to the modern process automation systems some milestones are highlighted. Special attention is given to the influence of Standards and Guidelines on the development of automation systems.

  2. Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran

    Directory of Open Access Journals (Sweden)

    Najmeh Jouyan

    2012-01-01

    Full Text Available Background: Chromosome abnormality (CA including Sex chromosomes abnormality (SCAs is one of the most important causes of disordered sexual development and infertility. SCAs formed by numerical or structural alteration in X and Y chromosomes, are the most frequently CA encountered at both prenatal diagnosis and at birth. Objective: This study describes cytogenetic findings of cases suspected with CA referred for cytogenetic study. Materials and Methods: Blood samples of 4151 patients referred for cytogenetic analysis were cultured for chromosome preparation. Karyotypes were prepared for all samples and G-Banded chromosomes were analyzed using x100 objective lens. Sex chromosome aneuploidy cases were analyzed and categorized in two groups of Turners and Klinefelter’s syndrome (KFS. Results: Out of 230 (5.54% cases with chromosomally abnormal karyotype, 122 (30% cases suspected of sexual disorder showed SCA including 46% Turner’s syndrome, 46% KFS and the remaining other sex chromosome abnormalities. The frequency of classic and mosaic form of Turner’s syndrome was 33% and 67%, this was 55% and 45% for KFS, respectively. Conclusion: This study shows a relatively high sex chromosome abnormality in this region and provides cytogenetic data to assist clinicians and genetic counselors to determine the priority of requesting cytogenetic study. Differences between results from various reports can be due to different genetic background or ethnicity.

  3. EPR techniques for space biodosimetry

    Energy Technology Data Exchange (ETDEWEB)

    Haskell, E.; Hayes, R.; Kenner, G.; Sholom, S.; Chumak, V.

    1996-12-31

    Retrospective dosimetry of tooth enamel has become an increasingly complex and difficult discipline to undertake while still attaining accuracy. The paper provides a review of the major obstacles, advances and pertinent phenomenon associated with low level retrospective dosimetry of human tooth enamel. Also covered is the many sources of error in EPR dosimetry, their potential solutions, as well as the different analysis and scanning techniques in use with their prospective pros and cons. Prospective directions for new approaches, methods, and instruments are also reviewed.

  4. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

    DEFF Research Database (Denmark)

    Wirth, J; Nothwang, H G; van der Maarel, S

    1999-01-01

    Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 non-chimeric, cytogenetically and genetically anchored CEPH YACs...... the Mendelian Cytogenetics Network (MCN), a collaborative effort of, at present, 270 cytogenetic laboratories throughout the world. In this pilot study, we have characterised 10 different MR associated chromosome regions delineating candidate regions for MR. Five of these regions are narrowed to breakpoint...

  5. Update on the Cytogenetics and Molecular Genetics of Chordoma

    Directory of Open Access Journals (Sweden)

    Larizza Lidia

    2005-02-01

    Full Text Available Abstract Chordoma is a rare mesenchymal tumour of complex biology for which only histologic and immunohistochemical criteria have been defined, but no biomarkers predicting the clinical outcome and response to treatment have yet been recognised. We herein review the interdisciplinary information achieved by epidemiologists, neurosurgeons and basic scientists on chordoma, usually a sporadic tumour, which also includes a small fraction of familial cases. Main focus is on the current knowledge of the genetic alterations which might pinpoint candidate genes and molecular mechanisms shared by sporadic and familiar chordomas. Due to the scarcity of the investigated tumour specimens and the multiple chromosome abnormalities found in tumours with aberrant karyotypes, conventional cytogenetics and Fluorescence In Situ Hybridization failed to detect recurrent chordoma-specific chromosomal rearrangements. Genome-wide approaches such as Comparative Genomic Hybridization (CGH are yet at an initial stage of application and should be implemented using BAC arrays either genome-wide or targeting selected genomic regions, disclosed by Loss of Heterozygosity (LOH studies. An LOH region was shown by a systematic study on a consistent number of chordomas to encompass 1p36, a genomic interval where a candidate gene was suggested to reside. Despite the rarity of multiplex families with chordoma impaired linkage studies, a chordoma locus could be mapped to chromosome 7q33 by positive lod score in three independent families. The role in chordomagenesis of the Tuberous Sclerosis Complex (TSC genes has been proved, but the extent of involvement of TSC1 and TSC2 oncosuppressors in chordoma remains to be assessed. In spite of the scarce knowledge on the genetics and molecular biology of chordoma, recent initiation of clinical trials using molecular-targeted therapy, should validate new molecular targets and predict the efficacy of a given therapy. Comparative genetic and

  6. CYTOGENETIC STUDIES ON SEVERAL HIPPOPHAƠ RHAMNOIDES L. GENOTYPES

    Directory of Open Access Journals (Sweden)

    Diana-Elena Maftei

    2012-06-01

    Full Text Available Sea-buckthorn (Hippophaë rhamnoides (2n=24 is a dioecious plant with a very obvious morpho-physiological polymorphism. This species is one of the most valuable fruit-bearing shrubs of the spontaneous and also of the cultivated flora, due to its content of biologically active substances of its leaves, fruit and shoots. The research has been accomplished on root apical meristems from germinated seeds that belong to four genotypes characteristic for Bacău county - Dospineúti, ùerpeni 11, ùerbăneúti 4, Sfiútofca 18, and to one genotype of the Danube Delta - Sfântul Gheorghe 5. Cytogenetical studies evinced that the mitotic index (MI was high, and it varied with the genotype. The highest MI was evinced in the ùerbăneúti 4 genotype (53.13, and the lowest – in ùerpeni 11 (40.08. Cell distribution per mitotic phases is approximately the same, the highest percentage was represented by cells in prophase, followed by metaphases, telophases and anaphases. There is a rather high frequency and a quite large spectrum of  chromosomal aberrations identified in this species (with variations due to the 5 different genotypes. Of all the chromosomal aberrations evinced during the ana-telophases of mitotic root apical meristems (bridges, delayed chromosomes, expelled chromosomes, fragments, micronuclei, the highest frequency was represented by ana-telophases with bridges. There has been noticed the presence of chromosomal abnormalities in metaphasic and prophasic cells.

  7. Cytogenetical effects of low doses: results obtained by N.N.Luchik and present-day problems

    International Nuclear Information System (INIS)

    Geras'kin, S.A.; Sevan'kaev, A.V.

    1996-01-01

    The analysis of present status of the problem of quantitative assessment of cytogenetic effects low is presented. The importance of works of N.V. Luchik is demonstrated for the development of this field of radiobiology. The results of the author's own experimental and theoretical research on the regularities of induction of cytogenetical damage by low doses of ionising radiation are presented

  8. Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML.

    Science.gov (United States)

    Rochowski, Andrzej; Olson, Susan B; Alonzo, Todd A; Gerbing, Robert B; Lange, Beverly J; Alter, Blanche P

    2012-11-01

    Specific cytogenetic clones might distinguish patients with unrecognized Fanconi anemia (FA) who present with acute myeloid leukemia (AML) from those with sporadic AML. Cytogenetic reports in literature cases of FA and AML were compared with de novo cases enrolled on CCG-2961. Gain of 1q, gain of 3q, monosomy 7, deleted 7q, gain of 13q, and deleted 20q were more frequent in FA AML; t(8;21), trisomy 8, t(9;11), t(6;9), and inversion 16 were exclusive to de novo AML cases. Observation of the FA AML cytogenetic clonal patterns should raise suspicion of an underlying leukemia predisposition syndrome and influence management. Copyright © 2012 Wiley Periodicals, Inc. This article is a U.S. Government work and is in the public domain in the USA.

  9. High resolution DNA flow cytometry of boar sperm cells in identification of boars carrying cytogenetic aberrations

    DEFF Research Database (Denmark)

    Larsen, Jacob; Christensen, Knud; Larsen, Jørgen K

    2004-01-01

    The cytogenetic quality of boars used for breeding determines the litter outcome and thus has large economical consequences. Traditionally, quality controls based on the examination of simple karyograms are time consuming and sometimes give uncertain results. As an alternative, the use of high......-resolution DNA flow cytometry on DAPI-stained sperm cell nuclei (CV cytogenetic quality of boars. By analyzing a series of 25 animals judged normal by their fertility statistics and a series of seven animals with known reciprocal translocations, a model...... for identifying sperm cells from cytogenetically aberrant animals was proposed. This model was applied to a series of 50 uncharacterized animals. The model successfully identified a mosaic or chimaeric carrier of an aberrant X chromosome. However, implementation of this technique for screening purposes would...

  10. Cytogenetic studies on recipients of allogeneic bone marrow transplants after fractionated total body irradiation

    International Nuclear Information System (INIS)

    Schmitz, N.; Goedde-Salz, E.; Loeffler, H.

    1985-01-01

    Cytogenetic findings from the bone marrow (BM) and the peripheral blood (PB) of nine consecutive patients after allogeneic bone marrow transplantation (BMT) for acute or chronic myelogenous leukaemia are reported. After a conditioning regimen consisting of cyclophosphamide and fractionated total body irradiation (TBI) given in five or six fractions of 2 Gy, persistence of host cells was detected in four out of seven cases with permanent engraftment. While one of these patients relapsed 4 months after host cells had been found in BM and PB, the other patients stayed relapse-free 124, 257 and 347 d after grafting. Before transplantation, the leukaemic cells in all three cases carried unique cytogenetic abnormalities giving the opportunity to distinguish the leukaemic population from chromosomally non-aberrant cells thought to represent residual normal host cells. As the persisting host cells after BMT lacked any cytogenetic abnormalities, it is suggested that they were members of residual normal clones not involved in the leukaemic process. (author)

  11. Advances in the role of cytogenetic analysis in the molecular diagnosis of B-cell lymphomas.

    Science.gov (United States)

    Grange, Béatrice; Callet-Bauchu, Evelyne; Salles, Gilles; Sujobert, Pierre

    2017-06-01

    Cytogenetic abnormalities represent essential determinants of diagnosis and prognosis in B-cell lymphomas. Their theranostic value is increasingly significant with the development of targeted therapies, in order to adapt the treatment at diagnosis as well as when relapse occurs. Areas covered: As the significance of these biomarkers is influenced by the technology used to detect them, an overview describing the strength and weakness of conventional and emerging technologies is provided. This review also updates the diverse cytogenetic abnormalities found in B-cell lymphomas, emphasizing their value in treatment decision. Expert commentary: Cytogenetics remains an essential analysis for the diagnostic work-up of lymphomas. As whole genome sequencing becomes more and more affordable routinely, the next challenge will be to recover all the information conveyed by conventional karyotype, including the analysis of the clonal architecture at the single cell level, in whole genome data.

  12. Cytogenetic methods for the detection of radiation-induced chromosome damage in aquatic organisms

    International Nuclear Information System (INIS)

    Kligerman, A.D.

    1979-01-01

    One means of evaluating the genetic effects of radiation on the genomes of aquatic organisms is to screen radiation-exposed cells for chromosome aberrations. A brief literature review of studies dealing with radiation-induced chromosome damage in aquatic organisms is presented, and reasons are given detailing why most previous studies are of little quantitative value. Suggestions are made for obtaining adequate qualitative and quantitative data through the use of modern cytogenetic methods and a model systems approach to the study of cytogenetic radiation damage in aquatic organisms. Detailed procedures for both in vivo and in vitro cytogenetic methods are described, and experimental considerations are discussed. Finally, suggestions for studies that could be of value in establishing protective guidelines for aquatic ecosystems are presented. (author)

  13. Monitoring of cytogenetic damages in peripheral lymphocytes of children living in radiocontaminated areas of Belarus

    International Nuclear Information System (INIS)

    Mikhalevich, L.S.

    1998-01-01

    The presented data of cytogenetic investigation of different groups of children affected by ionizing radiation as a result of the Chernobyl APS (Atomic Power Station) catastrophe allow to make the following conclusions: The use of cytogenetic method in the investigation of children born before the Chernobyl accident made possible to reveal significant increase of unstable chromosomal aberrations as compared with control groups. The absorbed dose of 200-500 mGy was evaluated for the children from the 30-km zone of Bragin district and Bragin town with the use of materials of cytogenetic investigation conducted in 1986. It is shown that the level of unstable type aberration in young children is rather increasing with the course of time than decreasing. The appearance of multiaberrant cells in children several years after the Chernobyl APS catastrophe, probably, testifies the effect of dense ionizing radiation of plutonium and its fission products on children. (J.P.N.)

  14. Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.

    Science.gov (United States)

    Flores-Ramírez, Francisco; Palacios-Guerrero, Claudia; García-Delgado, Constanza; Morales-Jiménez, Ariadna Berenice; Arias-Villegas, Christian Martín; Cervantes, Alicia; Morán-Barroso, Verónica Fabiola

    2015-08-01

    Trisomy 21 is the most frequent genetic cause of intellectual disability. It is caused by different cytogenetic aberrations: free trisomy, Robertsonian translocations, mosaicism, duplication of the critical region and other structural rearrangements of chromosome 21. The aim of the study was to identify in Mexican trisomy 21 patients who attended Hospital Infantil de México Federico Gómez from 1992-2011 the type and frequency of the cytogenetic aberration and to evaluate the effect of maternal age. A retrospective analysis of epidemiological data and karyotype reports were carried out; type and frequency of the cytogenetic variants were determined. We identified 2,018 cases referred with a clinical diagnosis of trisomy 21. In 1,921 analyses (95.2%) a cytogenetic variant of trisomy 21 was identified: free trisomy 21 in 1,787 cases (93.02%), four cases (0.21%) had an additional non-contributory aberration; Robertsonian translocations in 92 cases (4.79%); mosaicism in 31 cases (1.61%) and seven cases (0.36%) had other chromosomal abnormalities, five (0.26%) had other contributory structural rearrangements and two corresponded to double aneuploidies (0.10%). Gender distribution was 1,048 (54.56%) males and 873 (45.44%) females. A maternal age effect was observed in patients with free trisomy 21 with mothers >36 years of age. The present work reports the experience of a Mexican referral center regarding the karyotype diagnosis of patients with trisomy 21 and is one of the most extensive studies published so far. Percentages of the cytogenetic abnormalities present in our population reflect the ones previously reported for these cytogenetic alterations worldwide. Copyright © 2015 IMSS. Published by Elsevier Inc. All rights reserved.

  15. Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country.

    Science.gov (United States)

    Velloso, E D R P; Chauffaille, M L; Peliçario, L M; Tanizawa, R S S; Toledo, S R C; Gaiolla, R D; Lopes, L F

    2013-01-01

    Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

  16. Primary cutaneous follicle center lymphoma associated with an extracutaneous dissemination: a cytogenetic finding of potential prognostic value.

    Science.gov (United States)

    Subramaniyam, Shivakumar; Magro, Cynthia M; Gogineni, Swarna; Tam, Wayne; Mathew, Susan

    2015-11-01

    Cytogenetic studies on cutaneous lymphomas are rare, and very little is known about their prognostic value. We present a rare case of primary cutaneous follicle center lymphoma (PCFCL) with a complex translocation presenting with cutaneous and extracutaneous dissemination in the lymph node. Morphologic, immunohistochemical, conventional cytogenetic, and fluorescence in situ hybridization (FISH) studies were performed on this patient. A combination of cytogenetic and FISH analysis identified a complex novel four-way t(2;14;9;3) (p11.2;q32;p13;q27) translocation involving rearrangements of BCL6, immunoglobulin light and heavy chain genes, and an unknown gene on 9p. Our report elaborates the morphologic and immunohistochemical features in combination with cytogenetic and molecular cytogenetic analysis of PCFCL, which provide additional insight into the clinical and biologic behavior of this lesion. Copyright© by the American Society for Clinical Pathology.

  17. On the mechanism of cytogenetic effect of electromagnetic radiation: role of oxidation homeostasis

    International Nuclear Information System (INIS)

    Brezitskaya, N.V.; Timchenko, O.I.

    2000-01-01

    The evaluation of the role of changes in oxidation homeostasis in developing the cytogenetic effects arising by the electromagnetic irradiation impact is carried out. The experiments were performed on white male rats. The animals were subjected to impact of the nonionizing radiations in the microwave range during 40 days by 7 hours a day. It is established that changes in the free-radical oxidation by the impact of nonionizing radiation of the electromagnetic fields have a wave-like character. It is established that changes in the oxidation homeostasis proceed the development of cytogenetic effects and may be the cause thereof [ru

  18. Comparative analyses in Lotus: the cytogenetic map of Lotus uliginosus Schkuhr

    DEFF Research Database (Denmark)

    Ferreira, J.; Mendes, S.; Dall´Agnol, Miguel

    2012-01-01

    A comparative cytogenetic map was built for Lotusuliginosus (2n = 12), expanding previous analyses that revealed intra- and interspecific chromosomal rearrangements in the model legume L. japonicus, L. filicaulis, and L. burttii. This species is positioned in a sister clade of the previously......-mapped species and is proposed as one of the progenitors of L. corniculatus, the main forage crop of the genus. The cytogenetic map allowed the location of 12 genomic regions to be compared between these species. A high macrosynteny was revealed, but it was interrupted by a translocation involving chromosomes 3...

  19. Cytogenetic consequence of radiation in epithelial kidney cells of a monkey

    International Nuclear Information System (INIS)

    Kosichenko, L.P.; Trots, A.A.

    1980-01-01

    The cytogenetic consequence of radiation in kidney epithelial cells of monkeys are studied 3.5-9 years after the cessation of everyday irradiation in small doses (2.99-4.9 R daily) and 6.0-12.5 years after single 550-652 R irradiation. The increased amount of reconstructed chromosomes is mainly conditioned by stable chromosome exchange; reconstructions of the non-stable type are also preserved. The cytogenetic consequence of irradiation is determined by various factors, radiation conditions and the total dose of radiation, in particular

  20. A Semi-Closed Device for Chromosome Spreading for Cytogenetic Analysis

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Mednova, Olga; Vedarethinam, Indumathi

    2014-01-01

    Metaphase chromosome spreading is the most crucial step required for successful karyotyping and FISH analysis. These two techniques are routinely used in cytogenetics to assess the chromosome abnormalities. The spreading process has been studied for years but it is still considered an art more than......, and thus allow for better quality spreads. Further cytogenetic analysis depends on the quality of the spreads, which is dependent on the skills of the personnel and is thus limited to laboratory settings. Here, we present a semi-closed microfluidic chip for preparation of the metaphase spreads on a glass...

  1. Automation systems for radioimmunoassay

    International Nuclear Information System (INIS)

    Yamasaki, Paul

    1974-01-01

    The application of automation systems for radioimmunoassay (RIA) was discussed. Automated systems could be useful in the second step, of the four basic processes in the course of RIA, i.e., preparation of sample for reaction. There were two types of instrumentation, a semi-automatic pipete, and a fully automated pipete station, both providing for fast and accurate dispensing of the reagent or for the diluting of sample with reagent. Illustrations of the instruments were shown. (Mukohata, S.)

  2. Automated stopcock actuator

    OpenAIRE

    Vandehey, N. T.; O\\'Neil, J. P.

    2015-01-01

    Introduction We have developed a low-cost stopcock valve actuator for radiochemistry automation built using a stepper motor and an Arduino, an open-source single-board microcontroller. The con-troller hardware can be programmed to run by serial communication or via two 5–24 V digital lines for simple integration into any automation control system. This valve actuator allows for automated use of a single, disposable stopcock, providing a number of advantages over stopcock manifold systems ...

  3. Automated Analysis of Accountability

    DEFF Research Database (Denmark)

    Bruni, Alessandro; Giustolisi, Rosario; Schürmann, Carsten

    2017-01-01

    that are amenable to automated verification. Our definitions are general enough to be applied to different classes of protocols and different automated security verification tools. Furthermore, we point out formally the relation between verifiability and accountability. We validate our definitions...... with the automatic verification of three protocols: a secure exam protocol, Google’s Certificate Transparency, and an improved version of Bingo Voting. We find through automated verification that all three protocols satisfy verifiability while only the first two protocols meet accountability....

  4. Impact of Cytogenetics on Outcome of De novo and Therapy-related AML and MDS after Allogeneic Transplantation

    Science.gov (United States)

    Armand, Philippe; Kim, Haesook T.; DeAngelo, Daniel J.; Ho, Vincent T.; Cutler, Corey S.; Stone, Richard M.; Ritz, Jerome; Alyea, Edwin P.; Antin, Joseph H.; Soiffer, Robert J.

    2009-01-01

    Cytogenetics has an important impact on the prognosis of patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT) for AML or MDS. However, it is unclear whether currently accepted cytogenetic risk groups, which were established for patients treated mostly with standard therapy, are optimally discriminating for patients undergoing HSCT. Also, the impact of cytogenetics in the growing population of patients with therapy-related disease has not been completely elucidated. In this study, we retrospectively analyzed data on 556 patients with AML or MDS transplanted at our institution. We examined, in multivariate analyses, the contribution of cytogenetics to survival, relapse, and non-relapse mortality (NRM) for the 476 patients with de novo disease. We used these results to establish an optimal cytogenetic grouping scheme. We then applied this grouping scheme to the 80 patients with therapy-related disease. Our proposed three-group cytogenetic classification outperformed the established grouping schemes for both de novo and therapy-related disease. When classified by this new scheme, cytogenetics was the strongest prognostic factor for overall survival in our cohort, through its impact on the risk of relapse (and not on NRM). After accounting for cytogenetics, patients with therapy-related AML or MDS had an equivalent outcome to those with de novo disease. This study demonstrates the impact of cytogenetics on the risk of relapse and death for patients with both de novo and therapy-related disease undergoing transplantation; it also emphasizes the necessity of using cytogenetics to stratify patients entering clinical trials, and provides a system for doing so, which can be validated in a multi-institutional database. PMID:17531775

  5. Acute myeloid leukaemia: expression of MYC protein and its association with cytogenetic risk profile and overall survival.

    Science.gov (United States)

    Mughal, Muhammad Kashif; Akhter, Ariz; Street, Lesley; Pournazari, Payam; Shabani-Rad, Meer-Taher; Mansoor, Adnan

    2017-09-01

    Acute myeloid leukaemia (AML) is a clinically aggressive disease with marked genetic heterogeneity. Cytogenetic abnormalities provide the basis for risk stratification into clinically favourable, intermediate, and unfavourable groups. There are additional genetic mutations, which further influence the prognosis of patients with AML. Most of these result in molecular aberrations whose downstream target is MYC. It is therefore logical to study the relationship between MYC protein expression and cytogenetic risk groups. We studied MYC expression by immunohistochemistry in a large cohort (n = 199) of AML patients and correlated these results with cytogenetic risk profile and overall survival (OS). We illustrated differential expression of MYC protein across various cytogenetic risk groups (p = 0.03). Highest expression of MYC was noted in AML patients with favourable cytogenetic risk group. In univariate analysis, MYC expression showed significant negative influence of OS in favourable and intermediate cytogenetic risk group (p = 0.001). Interestingly, MYC expression had a protective effect in the unfavourable cytogenetic risk group. In multivariate analysis, while age and cytogenetic risk group were significant factors influencing survival, MYC expression by immunohistochemistry methods also showed some marginal impact (p = 0.069). In conclusion, we have identified differential expression of MYC protein in relation to cytogenetic risk groups in AML patients and documented its possible impact on OS in favourable and intermediate cytogenetic risk groups. These preliminary observations mandate additional studies to further investigate the routine clinical use of MYC protein expression in AML risk stratification. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  6. Management Planning for Workplace Automation.

    Science.gov (United States)

    McDole, Thomas L.

    Several factors must be considered when implementing office automation. Included among these are whether or not to automate at all, the effects of automation on employees, requirements imposed by automation on the physical environment, effects of automation on the total organization, and effects on clientele. The reasons behind the success or…

  7. Laboratory Automation and Middleware.

    Science.gov (United States)

    Riben, Michael

    2015-06-01

    The practice of surgical pathology is under constant pressure to deliver the highest quality of service, reduce errors, increase throughput, and decrease turnaround time while at the same time dealing with an aging workforce, increasing financial constraints, and economic uncertainty. Although not able to implement total laboratory automation, great progress continues to be made in workstation automation in all areas of the pathology laboratory. This report highlights the benefits and challenges of pathology automation, reviews middleware and its use to facilitate automation, and reviews the progress so far in the anatomic pathology laboratory. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Automated cloning methods.; TOPICAL

    International Nuclear Information System (INIS)

    Collart, F.

    2001-01-01

    Argonne has developed a series of automated protocols to generate bacterial expression clones by using a robotic system designed to be used in procedures associated with molecular biology. The system provides plate storage, temperature control from 4 to 37 C at various locations, and Biomek and Multimek pipetting stations. The automated system consists of a robot that transports sources from the active station on the automation system. Protocols for the automated generation of bacterial expression clones can be grouped into three categories (Figure 1). Fragment generation protocols are initiated on day one of the expression cloning procedure and encompass those protocols involved in generating purified coding region (PCR)

  9. Complacency and Automation Bias in the Use of Imperfect Automation.

    Science.gov (United States)

    Wickens, Christopher D; Clegg, Benjamin A; Vieane, Alex Z; Sebok, Angelia L

    2015-08-01

    We examine the effects of two different kinds of decision-aiding automation errors on human-automation interaction (HAI), occurring at the first failure following repeated exposure to correctly functioning automation. The two errors are incorrect advice, triggering the automation bias, and missing advice, reflecting complacency. Contrasts between analogous automation errors in alerting systems, rather than decision aiding, have revealed that alerting false alarms are more problematic to HAI than alerting misses are. Prior research in decision aiding, although contrasting the two aiding errors (incorrect vs. missing), has confounded error expectancy. Participants performed an environmental process control simulation with and without decision aiding. For those with the aid, automation dependence was created through several trials of perfect aiding performance, and an unexpected automation error was then imposed in which automation was either gone (one group) or wrong (a second group). A control group received no automation support. The correct aid supported faster and more accurate diagnosis and lower workload. The aid failure degraded all three variables, but "automation wrong" had a much greater effect on accuracy, reflecting the automation bias, than did "automation gone," reflecting the impact of complacency. Some complacency was manifested for automation gone, by a longer latency and more modest reduction in accuracy. Automation wrong, creating the automation bias, appears to be a more problematic form of automation error than automation gone, reflecting complacency. Decision-aiding automation should indicate its lower degree of confidence in uncertain environments to avoid the automation bias. © 2015, Human Factors and Ergonomics Society.

  10. Agronomic, cytogenetic, and isoenzymatic characterizations of oat somaclones

    Directory of Open Access Journals (Sweden)

    Lizete Augustin

    2000-09-01

    Full Text Available Immature embryo-derived somaclones regenerated from genotypes UPF 12, UPF 89S080 and UFRGS 7 were analyzed for eight agronomic traits and two enzymatic systems in order to evaluate the potential of tissue cultures to induce genetic variability in oats (Avena sativa L.. Some somaclones were also analyzed cytogenetically. Agronomic traits were evaluated in the field for all somaclones in 1993 and 1994. Bi-directional variation (P Para avaliar o potencial da cultura de tecidos na indução de variabilidade genética em aveia (Avena sativa L., somaclones regenerados de embriões imaturos dos genótipos UPF 12, UPF 89S080 e UFRGS 7 foram analisados em relação a oito características agronômicas e dois sistemas enzimáticos. A avaliação foi realizada em dois anos consecutivos, 1993 e 1994, em relação aos caracteres agronômicos. Foram observadas variações bidirecionais significativas (P < 0.05 para todos os caracteres, sendo que a freqüência média de variações detectadas em 1993, em populações somaclonais provenientes dos genótipos UPF 12 e UPF 89S080, foi de 35,2%. A maioria das alterações observadas em 1993 se mantiveram em 1994. A análise isoenzimática mostrou variações para os dois sistemas enzimáticos em quatro somaclones. A freqüência de anormalidades citogenéticas, de uma forma geral, foi baixa, porém mesmo nos somaclones onde a mesma foi alta, estas anormalidades não se refletiram na estabilidade meiótica. O processo de cultura de tecidos como gerador de variabilidade apresenta potencial como estratégia de apoio aos programas de melhoramento genético de aveia.

  11. Cytogenetic aspects of a canine breast carcinosarcoma - a case report.

    Science.gov (United States)

    Morais, C S D; Affonso, P R A M; Bitencourt, J A; Wenceslau, A A

    2017-05-25

    eventually led to structural and numerical chromosomal aberrations. Besides, this study reinforced the importance of cytogenetic studies in dogs as a reference material for human cancer studies, especially in rare cases, since it is possible to increase knowledge about the characteristics of breast neoplasms in which there is a little availability of similar cases for comparative studies.

  12. Computer aided analysis of additional chromosome aberrations in Philadelphia chromosome positive acute lymphoblastic leukaemia using a simplified computer readable cytogenetic notation

    Directory of Open Access Journals (Sweden)

    Mohr Brigitte

    2003-01-01

    Full Text Available Abstract Background The analysis of complex cytogenetic databases of distinct leukaemia entities may help to detect rare recurring chromosome aberrations, minimal common regions of gains and losses, and also hot spots of genomic rearrangements. The patterns of the karyotype alterations may provide insights into the genetic pathways of disease progression. Results We developed a simplified computer readable cytogenetic notation (SCCN by which chromosome findings are normalised at a resolution of 400 bands. Lost or gained chromosomes or chromosome segments are specified in detail, and ranges of chromosome breakpoint assignments are recorded. Software modules were written to summarise the recorded chromosome changes with regard to the respective chromosome involvement. To assess the degree of karyotype alterations the ploidy levels and numbers of numerical and structural changes were recorded separately, and summarised in a complex karyotype aberration score (CKAS. The SCCN and CKAS were used to analyse the extend and the spectrum of additional chromosome aberrations in 94 patients with Philadelphia chromosome positive (Ph-positive acute lymphoblastic leukemia (ALL and secondary chromosome anomalies. Dosage changes of chromosomal material represented 92.1% of all additional events. Recurring regions of chromosome losses were identified. Structural rearrangements affecting (pericentromeric chromosome regions were recorded in 24.6% of the cases. Conclusions SCCN and CKAS provide unifying elements between karyotypes and computer processable data formats. They proved to be useful in the investigation of additional chromosome aberrations in Ph-positive ALL, and may represent a step towards full automation of the analysis of large and complex karyotype databases.

  13. Automated System Marketplace 1994.

    Science.gov (United States)

    Griffiths, Jose-Marie; Kertis, Kimberly

    1994-01-01

    Reports results of the 1994 Automated System Marketplace survey based on responses from 60 vendors. Highlights include changes in the library automation marketplace; estimated library systems revenues; minicomputer and microcomputer-based systems; marketplace trends; global markets and mergers; research needs; new purchase processes; and profiles…

  14. Automation benefits BWR customers

    International Nuclear Information System (INIS)

    Anon.

    1982-01-01

    A description is given of the increasing use of automation at General Electric's Wilmington fuel fabrication plant. Computerised systems and automated equipment perform a large number of inspections, inventory and process operations, and new advanced systems are being continuously introduced to reduce operator errors and expand product reliability margins. (U.K.)

  15. Automate functional testing

    Directory of Open Access Journals (Sweden)

    Ramesh Kalindri

    2014-06-01

    Full Text Available Currently, software engineers are increasingly turning to the option of automating functional tests, but not always have successful in this endeavor. Reasons range from low planning until over cost in the process. Some principles that can guide teams in automating these tests are described in this article.

  16. Automation in Warehouse Development

    NARCIS (Netherlands)

    Hamberg, R.; Verriet, J.

    2012-01-01

    The warehouses of the future will come in a variety of forms, but with a few common ingredients. Firstly, human operational handling of items in warehouses is increasingly being replaced by automated item handling. Extended warehouse automation counteracts the scarcity of human operators and

  17. Identity Management Processes Automation

    Directory of Open Access Journals (Sweden)

    A. Y. Lavrukhin

    2010-03-01

    Full Text Available Implementation of identity management systems consists of two main parts, consulting and automation. The consulting part includes development of a role model and identity management processes description. The automation part is based on the results of consulting part. This article describes the most important aspects of IdM implementation.

  18. Work and Programmable Automation.

    Science.gov (United States)

    DeVore, Paul W.

    A new industrial era based on electronics and the microprocessor has arrived, an era that is being called intelligent automation. Intelligent automation, in the form of robots, replaces workers, and the new products, using microelectronic devices, require significantly less labor to produce than the goods they replace. The microprocessor thus…

  19. Library Automation in Pakistan.

    Science.gov (United States)

    Haider, Syed Jalaluddin

    1998-01-01

    Examines the state of library automation in Pakistan. Discusses early developments; financial support by the Netherlands Library Development Project (Pakistan); lack of automated systems in college/university and public libraries; usage by specialist libraries; efforts by private-sector libraries and the National Library in Pakistan; commonly used…

  20. Library Automation Style Guide.

    Science.gov (United States)

    Gaylord Bros., Liverpool, NY.

    This library automation style guide lists specific terms and names often used in the library automation industry. The terms and/or acronyms are listed alphabetically and each is followed by a brief definition. The guide refers to the "Chicago Manual of Style" for general rules, and a notes section is included for the convenience of individual…

  1. Planning for Office Automation.

    Science.gov (United States)

    Sherron, Gene T.

    1982-01-01

    The steps taken toward office automation by the University of Maryland are described. Office automation is defined and some types of word processing systems are described. Policies developed in the writing of a campus plan are listed, followed by a section on procedures adopted to implement the plan. (Author/MLW)

  2. The Automated Office.

    Science.gov (United States)

    Naclerio, Nick

    1979-01-01

    Clerical personnel may be able to climb career ladders as a result of office automation and expanded job opportunities in the word processing area. Suggests opportunities in an automated office system and lists books and periodicals on word processing for counselors and teachers. (MF)

  3. Automating the Small Library.

    Science.gov (United States)

    Skapura, Robert

    1987-01-01

    Discusses the use of microcomputers for automating school libraries, both for entire systems and for specific library tasks. Highlights include available library management software, newsletters that evaluate software, constructing an evaluation matrix, steps to consider in library automation, and a brief discussion of computerized card catalogs.…

  4. [Dynamics and ecological-genetic variability of cytogenetic disturbances in Scots pine populations experiencing technogenic impact].

    Science.gov (United States)

    Udalova, A A; Geras'kin, S A

    2011-01-01

    Scots pine (Pinus sylvestris L.) populations in the vicinity of nuclear industry facilities were monitored. Aberrant cells occurrence in root meristem of germinated seeds from the impacted pine populations was found to be significantly above the reference level during all six years of observations. In the reference population, changes of cytogenetic disturbances with time appeared to be cyclic while in the impacted populations, technogenic stress was strong enough to destroy the natural regularities. The increase in cytogenetic disturbances was accompanied by growth of fluctuations magnitude; deviations of basic oscillation parameters from the reference values rose along with technogenic impact level. Variability in cytogenetic response increased under technogenic stress. Inter-family component of variability predominated, though its contribution slightly decreased in impacted populations. A tendency for destabilization of a repetition coefficient dynamics was found under technogenic impact. A portion of the seeds was exposed to 15 Gy of gamma-rays, and higher radio-resistance in the impacted populations was observed. In the reference population, a family-related analysis of cytogenetic variability components after acute y-exposure revealed significant contributions of "family" and "germination conditions" factors as well as their interactions. On the contrary, in populations existing under chronic stress, considerable modifications in the structure of ecological-genetic variability were found, their degree increasing with technogenic impact severity.

  5. Biomarkers of DNA and cytogenetic damages induced by environmental chemicals or radiation

    International Nuclear Information System (INIS)

    1999-01-01

    This paper presents and discusses results from the studies on various biomarkers of the DNA and cytogenetic damages induced by environmental chemicals or radiation. Results of the biomonitoring studies have shown that particularly in the condition of Poland, health hazard from radiation exposure is overestimated in contradistinction to the environmental hazard

  6. Molecular cytogenetic definition of the chicken genome: the first complete Avian Karyotype

    NARCIS (Netherlands)

    Masabanda, J.S.; Burt, D.W.; O'Brien, P.C.M.; Vignal, A.; Fillon, V.; Walsh, P.S.; Cox, H.; Tempest, H.G.; Smit, J.; Habermann, F.; Schmidt, M.; Matsuda, Y.; Ferguson-Smith, M.A.; Crooijmans, R.P.M.A.; Groenen, M.A.M.; Griffin, D.K.

    2004-01-01

    Chicken genome mapping is important for a range of scientific disciplines. The ability to distinguish chromosomes of the chicken and other birds is thus a priority. Here we describe the molecular cytogenetic characterization of each chicken chromosome using chromosome painting and mapping of

  7. Development of flow cytogenetics and physical genome mapping in chickpea (Cicer arietinum L.)

    Czech Academy of Sciences Publication Activity Database

    Vláčilová, K.; Ohri, D.; Vrána, Jan; Čihalíková, Jarmila; Doleželová, Marie; Kahl, G.; Doležel, Jaroslav

    2002-01-01

    Roč. 10, č. 8 (2002), s. 695-706 ISSN 0967-3849 R&D Projects: GA AV ČR IAA6038204; GA AV ČR IBS5038104 Institutional research plan: CEZ:AV0Z5038910 Keywords : cell cycle * chickpea (Cicer arietinum) * human cytogenetics Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.828, year: 2002

  8. CLASSICAL AND MOLECULAR CYTOGENETIC STUDIES FOR BREEDING AND SELECTION OF TULIPS

    Directory of Open Access Journals (Sweden)

    Aurel Popescu

    2012-12-01

    Full Text Available Due to their extreme popularity as fresh cut flowers and garden plants, and being used extensively for landscaping, tulips undergone a continuous process of selective breeding. For almost nine decades, classical cytogenetic studies, mainly the chromosome counts, have been an important part in the breeding programme for polyploid tulips. The efficiency of breeding is greatly aided by a thorough knowledge of the occurrence of polyploidy in the plant material. While the traditional cytogenetic approaches are still highly useful in selecting polyploids and aneuploids arising from crosses involving (most often parents of different ploidy or from the material subjected to ploidy manipulation, the new strategies for inducing polyploidy in tulips, either in vivo or in vitro, and advances in molecular cytogenetics are expected to allow a significant increase in breeding efficiency. Together with the shortening of breeding cycle, major genetic improvements could be made for specific traits. In this we review the development of cytogenetic studies in tulips, and the most relevant achievements so far, providing an overview of what we consider to be valuable tools for the processes of selective breeding .

  9. Cancer predictive value of cytogenetic markers used in occupational health surveillance programs

    DEFF Research Database (Denmark)

    Hagmar, L; Bonassi, S; Strömberg, U

    1998-01-01

    It has not previously been clear whether cytogenetic biomarkers in healthy subjects will predict cancer. Earlier analyses of a Nordic and an Italian cohort indicated predictivity for chromosomal aberrations (CAS) but not for sister chromatid exchanges (SCES). A pooled analysis of the updated coho......, occupational exposures and smoking, will be assessed in a case-referent study within the study base....

  10. Cytogenetic Survey for Autistic Fragile X Carriers in a Mental Retardation Center.

    Science.gov (United States)

    Cantu, Eduardo S.; And Others

    1990-01-01

    The cytogenetic survey of 67 individuals previously identified as having mental retardation and autistic behaviors revealed only 1.5 percent with the fragile X chromosome. The finding suggests that most persons with fragile X syndrome do not have autistic behaviors severe enough to be identified as a secondary psychiatric diagnosis. (Author/DB)

  11. Partial clonning cytogenetic and linkage mapping of the porcine resistin (RSTN) gene

    Czech Academy of Sciences Publication Activity Database

    Čepica, Stanislav; Rohrer, G. A.; Masopust, m.; Kubíčková, S.; Musilová, P.; Rubeš, J.

    2002-01-01

    Roč. 33, - (2002), s. 381-383 ISSN 0268-9146 R&D Projects: GA ČR GA523/99/0842; GA AV ČR KSK5052113 Keywords : cytogenetic and linkage mapping Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.443, year: 2002

  12. Cytogenetics observation and radiation influence evaluation of exposed persons in a discontinuous radiation exposure event

    International Nuclear Information System (INIS)

    Chen Ying; Liu Xiulin; Yang Guoshan; Ge Shili; Jin Cuizhen; Yao Bo

    2003-01-01

    The cytogenetics results and dose estimation of exposed and related persons in an discontinuous radiation exposure event were reported in this paper. According to dicentrics + ring and micronucleus results combined with clinical data, slight (middle) degree of subacute radiation symptom of the victim was diagnosed. A part of 52 examined persons were exposed to radiation in a certain degree

  13. Molecular and cytogenetic analysis of the giant genomes of Fritillaria lilies

    Czech Academy of Sciences Publication Activity Database

    Ambrožová, K.; Macas, Jiří; Neumann, Pavel; Leitch, I. J.; Lysák, M.

    2009-01-01

    Roč. 17, č. 4 (2009), s. 558-559 ISSN 0967-3849. [International Chromosome Conference (ICC) /17./. 23.6.2009-26.6.2009, Boone ] Institutional research plan: CEZ:AV0Z50510513 Keywords : giant genomes of Fritillaria lilies * cytogenetic analysis Subject RIV: EB - Genetics ; Molecular Biology

  14. An integrated physical, genetic and cytogenetic map around the sunn locus of Medicago truncatula

    NARCIS (Netherlands)

    Schnabel, E.; Kulikova, O.; Penmetsa, R.V.; Bisseling, T.; Cook, D.R.; Frugoli, J.

    2003-01-01

    The sunn mutation of Medicago truncatula is a single-gene mutation that confers a novel supernodulation phenotype in response to inoculation with Sinorhizobium meliloti. We took advantage of the publicly available codominant PCR markers, the high-density genetic map, and a linked cytogenetic map to

  15. Cytogenetics of monosomes in Zea mays. Comprehensive report, February 1, 1977-May 15, 1980

    Energy Technology Data Exchange (ETDEWEB)

    Weber, D. F.

    1980-02-01

    Progress is reported in research on the cytogenetics of maize. The study has identified genetic factors that control the meiotic process, genetic recombination, lipid biosynthesis, and the free amino acid pool. It has also been determined that distributive pairing, gene compensation, and gene magnification do not occur in maize. (ACR)

  16. Cytogenetics and radiosensitivity for quince tree breeding purpose (Cydonia oblonga Mill.)

    International Nuclear Information System (INIS)

    Dall'Orto, F.A.C.; Barbosa, W.; Cruz, N.D.; Ferraz, E.S.B.; Menten, J.O.M.; Tulmann Neto, A.; Ando, A.

    1984-01-01

    Quince cytogenetic aspects were studied to determine the level of ploidy and chromosome number, of Cydonia oblonga Mill. The existence or not of first genetic barriers which would hamper the intercross of the eight studied varieties (Acucar, Champion, Cheldow, Manning, Mato Dentro, Mendoza-INTA 37, Portugal and Smyrna) was done. (M.A.C.) [pt

  17. Environmental exposure to carcinogenic polycyclic aromatic hydrocarbons – the interpretation of cytogenetic analysis by FISH

    Czech Academy of Sciences Publication Activity Database

    Šrám, Radim; Beskid, Olena; Rössnerová, Andrea; Rössner st., Pavel; Lněničková, Zdena; Milcová, Alena; Solansky, I.; Binková, Blanka

    2007-01-01

    Roč. 172, - (2007), s. 12-20 ISSN 0378-4274 R&D Projects: GA MŽP SL/5/160/05 Institutional research plan: CEZ:AV0Z50390512 Keywords : environmental pollution * carcinogenic polycyclic aromatic hydrocarbons * cytogenetic analysis Subject RIV: DN - Health Impact of the Environment Quality Impact factor: 2.826, year: 2007

  18. Cytogenetic evaluation of pre-pregnancy smoking in maternal and newborn lymphocytes.

    Science.gov (United States)

    Kareli, Dimitra E; Pouliliou, Stamatia E; Nikas, Ioannis H; Psillaki, Afrodite N; Galazios, Georgios C; Liberis, Vassilios A; Lialiaris, Theodore S

    2012-12-01

    To study cytogenetic damage in order to estimate the effect of pre-pregnancy smoking on pregnant women and their foetuses. Lymphocyte cultures were obtained from peripheral blood of 20 women who quit smoking during pregnancy, and umbilical cord blood of their newborns at delivery. Cytogenetic analyses were performed for sister chromatid exchanges (SCEs), proliferation rate index (PRI) and mitotic index (MI) using the Fluorescence Plus Giemsa staining technique. Twenty non-smoking women and their newborns were evaluated as controls. CPT-11, a known antineoplastic, was used as a positive genotoxic agent in order to correlate non-smoking women with smoking women and reveal any underlying chromosome instability. Statistical evaluation of SCE frequencies, PRI and MI was based on independent samples t-test in order to estimate the effect of pre-pregnancy smoking on mothers and their newborns. SCEs were induced in the cord blood lymphocytes of newborns whose mothers smoked before pregnancy when they were exposed to the mutagenic agent CPT-11 (psmoking and smoking mothers exposed to CPT-11. Newborns in both groups had significantly lower SCE levels than their mothers (psmoking results in cytogenetic damage for both mothers and newborns, and is an important risk factor for cancer and/or other genetic-related diseases. Smoking cessation needs to occur well before conception in order to avoid the strong cytogenetic association between pre-pregnancy smoking by mothers and their newborns. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  19. Cytogenetic survey results in children and teens who sit in the area of Chernobyl

    International Nuclear Information System (INIS)

    Montoro, A.; Sebastia, N.; Barquinero, J. F.; Soriano, J. M.; Almonacid, M.; Alonso, O.; Cervera, J.; Such, E.; Sila, M. A.; Ibanez, M.; Arnal, C.; Villaescusa, J. I.

    2012-01-01

    The biological effects are analyzed cytogenetic abnormalities (chromosomal) produced in peripheral blood lymphocytes. The study was conducted in 55 children from Ukraine and residing in areas affected by the Chernobyl nuclear accident. Blood samples were taken after the signing of informed consent by parents guardians and cultured following the technical protocol of the IAEA (2001) for studies of biological dosimetry.

  20. How unexpected are unexpected findings in prenatal cytogenetic diagnosis? A literature review

    NARCIS (Netherlands)

    van Zwieten, Myra C. B.; Willems, Dick L.; Litjens, Liesbeth L.; Schuring-Blom, Heleen G.; Leschot, Nico

    2005-01-01

    The objective of this review was to gain understanding about unexpected findings in prenatal cytogenetic diagnosis. This category of results might be excluded from prenatal testing when new molecular tests such as I-FISH and QF-PCR will be applied in a future scenario of targeted testing. The

  1. Methods for Cytogenetic Chromosome Barcoding and Chromosome Painting in Brachypodium distachyon and Its Relative Species.

    Science.gov (United States)

    Idziak-Helmcke, Dominika; Betekhtin, Alexander

    2018-01-01

    Brachypodium distachyon provides a particularly appealing object for molecular cytogenetic analysis due to its compact genome and low repetitive DNA content, as well as low (x = 5) basic number of chromosomes easily identifiable on the basis of their morphometric features. Some of these features, such as genome compactness, are shared by the other members of the genus, thus making them amenable for comparative cytogenetic mapping. Cytogenetic infrastructure established for B. distachyon was initially based on fluorescence in situ hybridization with various tandemly repeated sequences as probes. The molecular cytogenetic studies advanced greatly with the development of B. distachyon large DNA insert genomic libraries. These resources coupled with the access to the fully sequenced genome of B. distachyon enabled chromosome painting in monocots for the first time. This pioneering work was subsequently extended to other Brachypodium species, allowing insight into grass karyotype evolution. In this protocol we describe the methods of making somatic and meiotic chromosome preparations, probe labeling, FISH with BAC clones, a strategy for chromosome barcoding and chromosome painting in B. distachyon, and comparative chromosome painting in the other Brachypodium species.

  2. Cytogenetic support for early malignant change in a diffuse neurofibroma not associated with neurofibromatosis

    NARCIS (Netherlands)

    Molenaar, WM; Dijkhuizen, T; vanEchten, J; Hoekstra, HJ; vandenBerg, E

    A 62-year-old woman presented with a solitary diffuse neurofibroma; a second recurrence showed features indicative of malignancy, but insufficient for a certain histologic diagnosis. Cytogenetic analysis revealed abnormalities previously described in malignant peripheral nerve sheath tumors and not

  3. CYTOGENETIC STUDY OF A NODULAR HYPERPLASIA OF THE THYROID AFTER IRRADIATION FOR HODGKINS-DISEASE

    NARCIS (Netherlands)

    VANDENBERG, E; VANDOORMAAL, JJ; OOSTERHUIS, JW; DEJONG, B; BUIST, J; VOS, AM; VERMEIJ, A; Dam, A.

    We describe cytogenetics of a case of nodular hyperplasia of the thyroid with papillary microcarcinoma following radiotherapy for Hodgkin's disease. The chromosomal pattern found was very heterogeneous with a clonal abnormality of chromosome 10, among others. Together with some recent data from the

  4. Cytogenetic profiles of 2806 patients with acute myeloid leukemia-a retrospective multicenter nationwide study.

    Science.gov (United States)

    Byun, Ja Min; Kim, Young Jin; Yoon, Hwi-Joong; Kim, Si-Young; Kim, Hee-Je; Yoon, Jaeho; Min, Yoo Hong; Cheong, Jun-Won; Park, Jinny; Lee, Jae Hoon; Hong, Dae Sik; Park, Seong Kyu; Kim, Hyeoung-Joon; Ahn, Jae-Sook; Shin, Ho-Jin; Chung, Joo Seop; Lee, Won Sik; Lee, Sang Min; Park, Yong; Kim, Byung Soo; Lee, Je-Hwan; Lee, Kyoo-Hyung; Jung, Chul Won; Jang, Jun Ho; Min, Woo-Sung; Park, Tae Sung

    2016-08-01

    The cytogenetic and molecular data is recognized as the most valuable prognostic factor in acute myeloid leukemia (AML). Our aim was to systemically analyze the cytogenetics of Korean AML patients and to compare the cytogenetic profiles of various races to identify possible geographic heterogeneity. We retrospectively reviewed medical records of 2806 AML patients diagnosed at 11 tertiary teaching hospitals in Korea between January 2007 and December 2011. The most common recurrent chromosomal abnormality was t(8;21) (8.8 %, 238/2717), but t(15;17) showed an almost same number (8.6 %,235/2717). Among de novo AML, the most frequent aberrations were t(15;17), observed in 229 (10.7 %). The most common French-American-British (FAB) classification type was M2 (32.2 %), and recurrent cytogenetic abnormalities correlated with the FAB subtypes. Among 283 secondary AML cases, myelodysplastic syndrome was the most common predisposing factor. About 67.1 % of the secondary AML cases were associated with chromosomal aberrations, and chromosome 7 abnormalities (n = 45, 15.9 %) were most common. The incidence of FLT3 internal tandem duplication mutation was relatively low at 15 %. Our study reports certain similarities and differences in comparison to previous reports. Such discrepancies call for extensive epidemiological studies to clarify the role of genetic as well as geographic heterogeneity in the pathogenesis of AML.

  5. Cytogenetic comparisons of synchronous carcinomas and polyps in patients with colorectal cancer

    DEFF Research Database (Denmark)

    Bardi, G; Parada, L A; Bomme, L

    1997-01-01

    Thirty tumorous lesions from seven patients with colorectal cancer were short-term cultured and cytogenetically analysed: 16 non-adenomatous polyps, six adenomas, seven carcinomas, including one in polyp, and one lymph node metastasis. Clonal chromosome aberrations were found in 20 samples in 100...

  6. CYTOGENETIC STUDIES IN MICE TREATED WITH THE JET FUELS, JET-A AND JP-8

    Science.gov (United States)

    Cytogenetic studies in mice treated with the jet fuels, Jet-A and JP-8AbstractThe genotoxic potential of the jet fuels, Jet-A and JP-8, were examined in mice treated on the skin with a single dose of 240 ug/mouse. Peripheral blood smears were prepared at the start of the ...

  7. Molecular cytogenetic identification of a wheat–Thinopyrum ...

    Indian Academy of Sciences (India)

    FANG HE

    Abstract. Thinopyrum ponticum (2n = 70) serves as a valuable gene pool for wheat improvement. Line SN0224, derived from crosses between Th. ponticum and the common wheat cultivar Yannong15, was identified in the present study. Cytogenetic observa- tions showed that SN0224 contains 42 chromosomes in the ...

  8. Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome.

    Science.gov (United States)

    Chauhan, Pooja; Jaiswal, Sushil Kumar; Lakhotia, Anjali Rani; Rai, Amit Kumar

    2016-09-01

    In the present study, we reported two cases of TS with mosaic ring X chromosome showing common clinical characteristics of TS like growth retardation and ovarian dysfunction. The purpose of the present study was to cytogenetically characterize both cases. Whole blood culture and G-banding were performed for karyotyping the cases following standard protocol. Origin of the ring chromosome and degree of mosaicism were further determined by fluorescence in situ hybridization (FISH). Breakpoints and loss of genetic material in formation of different ring X chromosomes r (X) in cases were determined with the help of cytogenetic microarray. Cases 1 and 2 with ring chromosome were cytogenetically characterized as 45, X [114]/46Xr (X) (p22.11q21.32) [116] and 45, X [170]/46, Xr (X) (p22.2q21.33) [92], respectively. Sizes of these ring X chromosomes were found to be ~75 and ~95 Mb in cases 1 and 2, respectively, using visual estimation as part of cytogenetic observation. In both cases, we observed breakpoints on Xq chromosome were within relatively narrow region between Xq21.33 and Xq22.1 compared to regions in previously reported cases associated with ovarian dysgenesis. Our observation agrees with the fact that despite of large heterogeneity, severity of the cases with intact X-inactive specific transcript (XIST) is dependent on degree of mosaicism and extent of Xq deletion having crucial genes involved directly or indirectly in various physiological involving ovarian cyclicity.

  9. High resolution DNA flow cytometry of boar sperm cells in identification of boars carrying cytogenetic aberrations

    DEFF Research Database (Denmark)

    Larsen, Jacob; Christensen, Knud; Larsen, Jørgen K

    2004-01-01

    The cytogenetic quality of boars used for breeding determines the litter outcome and thus has large economical consequences. Traditionally, quality controls based on the examination of simple karyograms are time consuming and sometimes give uncertain results. As an alternative, the use of high...

  10. The results of selective cytogenetic monitoring of Chernobyl accident victims in the Ukraine

    International Nuclear Information System (INIS)

    Pilinskaya, M.A.

    1996-01-01

    Selective cytogenetic monitoring of the highest priority groups of Chernobyl disaster victims has been carried out since 1987. In 1992-1993, 125 liquidators (irradiated mainly in 1986) and 42 persons recovering from acute radiation sickness of the second and third degrees of severity were examined. Cytogenetic effects (an elevated level of unstable as well as stable markers of radiation exposure) were found in all groups, which showed a positive correlation with the initial degree of irradiation severity even 6-7 y after the accident. Comparative scoring of conventional staining vs. G-banding in 10 liquidators showed the identical rate of unstable aberrations. At the same time, the yield of stable aberrations for G-banded slides exceeded the frequency for conventional staining. In order to study possible mutagenic activity of chronic low levels of irradiation, the cytogenetic monitoring of some critical groups of the population (especially children and occupational groups-tractor drivers and foresters) living in areas of the Ukraine contaminated by radionuclides was carried out. In all the examined groups, a significant increase in the frequency of aberrant metaphases, chromosome aberrations (both unstable and stable), an chromatid aberrations was observed. Data gathered from groups of children reflect the intensity of mutagenic impact on the studied populations and demonstrate a positive correlation with the duration of exposure. Results of cytogenetic examination of adults confirmed the importance of considering the contribution of occupational radiation exposure to genetic effects of Chernobyl accident factors on the population of contaminated areas. 17 refs., 3 tabs

  11. A 3-year cytogenetic survey of 9661 patients in South Africa | Retief ...

    African Journals Online (AJOL)

    During the period 1 January 1977 - 31 December 1979,. 9 661 patients underwent cytogenetic investigation at seven participating laboratories in South Africa. The chromosome data were coded using a standard protocol and the results tabulated, being listed according to the clinical signs which led to referral for ...

  12. Prognostic significance of cytogenetic abnormalities in T-cell prolymphocytic leukemia.

    Science.gov (United States)

    Hu, Zhihong; Medeiros, L Jeffrey; Fang, Lianghua; Sun, Yi; Tang, Zhenya; Tang, Guilin; Sun, Tsieh; Quesada, Andres E; Hu, Shimin; Wang, Sa A; Pei, Lin; Lu, Xinyan

    2017-05-01

    T-cell prolymphocytic leukemia (T-PLL) is an aggressive mature T-cell neoplasm. The most common cytogenetic abnormality associated with T-PLL is inv(14)(q11.2q32) involving TCL1, but other abnormalities also have been reported. In this study, we correlated cytogenetic abnormalities with clinical outcome in 97 T-PLL patients, including 66 men and 31 women with a median age of 63 years (range, 34-81). Twenty-seven patients had a normal karyotype (NK), one had two chromosomal aberrations, and 69 had a complex karyotype (CK). Patients with a CK had poorer overall survival (OS) than patients with a NK (P = .0016). In the CK group, the most common aberrations involved 14q (n = 45) and 8q (n = 38). Additional deletions of chromosomes 17p, 11q, 6q, 12p, 13q were observed frequently. No individual cytogenetic abnormality impacted OS. Patients with ≥5 aberrations had an OS of 11 months versus 22 months in patients with 3467). Patients with refractory disease showed worse OS in both the NK and CK groups (P = .0014 and P < .0001, respectively), compared with patients who achieved remission but then relapsed. Stem cell transplantation did not appear to improve OS regardless of karyotype complexity. In conclusion, patients with T-PLL often have a CK which is a poor prognostic factor, particularly in patients with ≥5 cytogenetic aberrations. © 2017 Wiley Periodicals, Inc.

  13. In vivo cytogenetic effects of 2-trans hexenal on somatic and germ ...

    African Journals Online (AJOL)

    The in vivo cytogenetic effects of 2-trans hexenal were evaluated by investigating chromosomal aberrations and sperm head abnormalities in the bone marrow cells of laboratory bred Swiss albino mice. Single intraperitoneal injections of 8, 16 or 32 ìl per kg bodyweight resulted in dose-dependent decreases in the mitotic ...

  14. CYTOGENETICS, PLOIDY AND DIFFERENTIATION OF HUMAN TESTICULAR, OVARIAN AND EXTRAGONADAL GERM-CELL TUMORS

    NARCIS (Netherlands)

    OOSTERHUIS, JW; CASTEDO, SMMJ; DEJONG, B

    1990-01-01

    Data from cytogenetics of testicular, ovarian and extragonadal germ cell tumours indicate that the group of germ cell tumours for which Skakkebaek proposed the name gonocytoma (seminoma, dysgerminoma and germinoma) is characterized by the presence of isochromosome 12p. The (dysplastic) gonocytes

  15. Advances in inspection automation

    Science.gov (United States)

    Weber, Walter H.; Mair, H. Douglas; Jansen, Dion; Lombardi, Luciano

    2013-01-01

    This new session at QNDE reflects the growing interest in inspection automation. Our paper describes a newly developed platform that makes the complex NDE automation possible without the need for software programmers. Inspection tasks that are tedious, error-prone or impossible for humans to perform can now be automated using a form of drag and drop visual scripting. Our work attempts to rectify the problem that NDE is not keeping pace with the rest of factory automation. Outside of NDE, robots routinely and autonomously machine parts, assemble components, weld structures and report progress to corporate databases. By contrast, components arriving in the NDT department typically require manual part handling, calibrations and analysis. The automation examples in this paper cover the development of robotic thickness gauging and the use of adaptive contour following on the NRU reactor inspection at Chalk River.

  16. Automated model building

    CERN Document Server

    Caferra, Ricardo; Peltier, Nicholas

    2004-01-01

    This is the first book on automated model building, a discipline of automated deduction that is of growing importance Although models and their construction are important per se, automated model building has appeared as a natural enrichment of automated deduction, especially in the attempt to capture the human way of reasoning The book provides an historical overview of the field of automated deduction, and presents the foundations of different existing approaches to model construction, in particular those developed by the authors Finite and infinite model building techniques are presented The main emphasis is on calculi-based methods, and relevant practical results are provided The book is of interest to researchers and graduate students in computer science, computational logic and artificial intelligence It can also be used as a textbook in advanced undergraduate courses

  17. Automation in Warehouse Development

    CERN Document Server

    Verriet, Jacques

    2012-01-01

    The warehouses of the future will come in a variety of forms, but with a few common ingredients. Firstly, human operational handling of items in warehouses is increasingly being replaced by automated item handling. Extended warehouse automation counteracts the scarcity of human operators and supports the quality of picking processes. Secondly, the development of models to simulate and analyse warehouse designs and their components facilitates the challenging task of developing warehouses that take into account each customer’s individual requirements and logistic processes. Automation in Warehouse Development addresses both types of automation from the innovative perspective of applied science. In particular, it describes the outcomes of the Falcon project, a joint endeavour by a consortium of industrial and academic partners. The results include a model-based approach to automate warehouse control design, analysis models for warehouse design, concepts for robotic item handling and computer vision, and auton...

  18. Automation in Immunohematology

    Directory of Open Access Journals (Sweden)

    Meenu Bajpai

    2012-01-01

    Full Text Available There have been rapid technological advances in blood banking in South Asian region over the past decade with an increasing emphasis on quality and safety of blood products. The conventional test tube technique has given way to newer techniques such as column agglutination technique, solid phase red cell adherence assay, and erythrocyte-magnetized technique. These new technologies are adaptable to automation and major manufacturers in this field have come up with semi and fully automated equipments for immunohematology tests in the blood bank. Automation improves the objectivity and reproducibility of tests. It reduces human errors in patient identification and transcription errors. Documentation and traceability of tests, reagents and processes and archiving of results is another major advantage of automation. Shifting from manual methods to automation is a major undertaking for any transfusion service to provide quality patient care with lesser turnaround time for their ever increasing workload. This article discusses the various issues involved in the process.

  19. Cytogenetic damage at low doses and the problem of bioindication of chronic low level radiation exposure

    International Nuclear Information System (INIS)

    Geras'kin, S.A.; Dikarev, V.G.; Nesterov, E.B.; Vasiliev, D.V.; Dikareva, N.S.

    2000-01-01

    The analysis undertaken by us of the experimentally observed cellular responses to low dose irradiation has shown that the relationship between the yield of induced cytogenetic damage and radiation dose within low dose range is non-linear and universal in character. Because of the relationship between the yield of cytogenetic damage and dose within low dose range is non-linear, the aberration frequency cannot be used in biological dosimetry in the most important in terms of practical application case. The cytogenetic damage frequency cannot be used in biological dosimetry also because of the probability of synergistic and antagonistic interaction effects of the different nature factors simultaneously acting on test-object in real conditions is high within low dose (concentration) range. In our experimental study of the regularities in the yield of structural mutations in conditions of combined influence of ionizing radiation, heavy metals and pesticides it was found that synergistic and antagonistic effects are mainly induced in conditions of combined action of low exposure injuring agents. Experiments on agricultural plants were carried out in 1986-1989 at the 30-km zone around Chernobyl NPP. It was shown that chronic low dose exposure could cause an inheritable destabilization of genetic structures expressing in increase of cytogenetic damage and yield karyotypic variability in offspring's of irradiated organisms. Obviously exactly this circumstance is the reason of the phenomenon found in our researches of significant time delay of cytogenetic damage reduction rate from radioactive pollution reduction rate from time past from the accident moment. Research of cytogenetic damage of reproductive (seeds) and vegetative (needles) plant organs of the Pinus sylvestris tree micropopulations growing in contrast by radioactive pollution level sites of the 30-km ChNPP zone and also in the vicinity of the industrial plant > for processing and temporary storage of

  20. Protective role of Carica papaya (Linn.) in electron beam radiation induced hematological and cytogenetic damages in Swiss albino mice

    International Nuclear Information System (INIS)

    Yogish Somayaji, T.; Suchetha Kumari, N.

    2014-01-01

    Carica papaya (Linn.) is known to possess various biomedical applications. It has remarkable antioxidant properties. The main objective of the study was to evaluate the leaf extracts of Carica papaya (Linn.) on hematologic and cytogenetic changes occurring due to irradiation of mice to sub-lethal doses of Electron Beam Radiation (EBR). Analysis of hematological changes occurring due to irradiation of mice to sub-lethal doses of EBR, and the effects of Carica papaya (Linn.) extract on the same. The Assessment of hematopoietic stress by spleen colony forming unit and spleen body weight index. The analysis of cell proliferation and immunomodulation with response to the effects of Carica papaya (Linn.) extract by estimation of IL-6. The estimation of serum total antioxidants, lipid peroxidation and analyzing the activities of enzymes like SOD, ALP, and AST. Male Swiss albino mice were fed orally with papaya aqueous leaf extract for 15 days. They were irradiated with a whole body dose of 6 Gy Electron Beam radiation. The mice were dissected for liver, kidney, bone marrow, spleen and brain. The hematological studies were done using blood cell count in an automated cell counter. The biochemical estimations like urea, creatinine, SGOT, SGPT, Total Protein, Albumin, Bilirubin were done using the serum and homogenates. The total antioxidant capacity, the antioxidant enzymes were estimated. The Interleukin-6 levels were estimated in serum to assess immune modulation. The results show a decrease in the hematological parameters in radiated animals. The papaya treated groups have shown modulation in the hematological parameters. The extract has also reduced the suppression of the bone marrow induced by radiation. The radiation induced liver damage is also reduced in papaya treated groups. The aqueous extract of Carica papaya (Linn.) has shown protective effects in electron beam radiation induced tissue damages in Swiss Albino mice (author)

  1. Integrating cytogenetics and genomics in comparative evolutionary studies of cichlid fish

    Directory of Open Access Journals (Sweden)

    Mazzuchelli Juliana

    2012-09-01

    Full Text Available Abstract Background The availability of a large number of recently sequenced vertebrate genomes opens new avenues to integrate cytogenetics and genomics in comparative and evolutionary studies. Cytogenetic mapping can offer alternative means to identify conserved synteny shared by distinct genomes and also to define genome regions that are still not fine characterized even after wide-ranging nucleotide sequence efforts. An efficient way to perform comparative cytogenetic mapping is based on BAC clones mapping by fluorescence in situ hybridization. In this report, to address the knowledge gap on the genome evolution in cichlid fishes, BAC clones of an Oreochromis niloticus library covering the linkage groups (LG 1, 3, 5, and 7 were mapped onto the chromosomes of 9 African cichlid species. The cytogenetic mapping data were also integrated with BAC-end sequences information of O. niloticus and comparatively analyzed against the genome of other fish species and vertebrates. Results The location of BACs from LG1, 3, 5, and 7 revealed a strong chromosomal conservation among the analyzed cichlid species genomes, which evidenced a synteny of the markers of each LG. Comparative in silico analysis also identified large genomic blocks that were conserved in distantly related fish groups and also in other vertebrates. Conclusions Although it has been suggested that fishes contain plastic genomes with high rates of chromosomal rearrangements and probably low rates of synteny conservation, our results evidence that large syntenic chromosome segments have been maintained conserved during evolution, at least for the considered markers. Additionally, our current cytogenetic mapping efforts integrated with genomic approaches conduct to a new perspective to address important questions involving chromosome evolution in fishes.

  2. Longitudinal fluorescence in situ hybridization reveals cytogenetic evolution in myeloma relapsing after autologous transplantation

    Science.gov (United States)

    Merz, Maximilian; Jauch, Anna; Hielscher, Thomas; Mai, Elias K.; Seckinger, Anja; Hose, Dirk; Bertsch, Uta; Neben, Kai; Raab, Marc S.; Salwender, Hans; Blau, Igor W.; Lindemann, Hans-Walter; Schmidt-Wolf, Ingo; Scheid, Christof; Haenel, Mathias; Weisel, Katja; Goldschmidt, Hartmut; Hillengass, Jens

    2017-01-01

    To investigate cytogenetic evolution after upfront autologous stem cell transplantation for newly diagnosed myeloma we retrospectively analyzed fluorescence in situ hybridization results of 128 patients with paired bone marrow samples from the time of primary diagnosis and at relapse. High-risk cytogenetic abnormalities (deletion 17p and/or gain 1q21) occurred more frequently after relapse (odds ratio: 6.33; 95% confidence interval: 1.86–33.42; P<0.001). No significant changes were observed for defined IGH translocations [t(4;14); t(11;14); t(14;16)] or hyperdiploid karyotypes between primary diagnosis and relapse. IGH translocations with unknown partners occurred more frequently at relapse. New deletion 17p and/or gain 1q21 were associated with cytogenetic heterogeneity, since some de novo lesions with different copy numbers were present only in subclones. No distinct baseline characteristics were associated with the occurrence of new high-risk cytogenetic abnormalities after progression. Patients who relapsed after novel agent-based induction therapy had an increased risk of developing high-risk aberrations (odds ratio 10.82; 95% confidence interval: 1.65–127.66; P=0.03) compared to those who were treated with conventional chemotherapy. Survival analysis revealed dismal outcomes regardless of whether high-risk aberrations were present at baseline (hazard ratio, 3.53; 95% confidence interval: 1.53–8.14; P=0.003) or developed at relapse only (hazard ratio, 3.06; 95% confidence interval: 1.09–8.59; P=0.03). Our results demonstrate cytogenetic evolution towards high-risk disease after autologous transplantation and underline the importance of repeated genetic testing in relapsed myeloma (EudraCT number of the HD4 trial: 2004-000944-26). PMID:28495913

  3. Cytogenetic Examination of South American Tapirs, Tapirus Terrestris (Perissodactyla, Tapiridae, from the Wroclaw Zoological Garden

    Directory of Open Access Journals (Sweden)

    Kosowska B.

    2015-12-01

    Full Text Available Cytogenetic Examination of South American Tapirs, Tapirus terrestris (Perissodactyla, Tapiridae from the Wroclaw Zoological Garden. Kosowska, B., Strzała, T., Moska, M., Ratajszczak, R., Dobosz, T. - Seven lowland tapirs (Tapirus terrestris from Wrocław ZOO (three females and four males, differing from each other with exterior and sexual behaviour were verified with cytogenetic analysis in order to check their taxonomic status. Cytogenetic analysis was done using two alternative methods of blood collection: 1 conventionally with venepuncture, and 2 with blood sucking bugs from the Reduviidae family. Lymphocytes capable of growing were obtained only with conventional method of blood sampling. Karyotypes and karyograms of all analyzed tapirs were created using classical cytogenetic methods of chromosomes staining. All possessed karyograms had diploid chromosome number equal 80 (2n = 80. Homologous chromosomes did not differ between each other with quantity, size, centromeres location, length of arms, G bands and all were classified as proper karyograms of Tapirus terrestris species representatives. The X chromosomes as well as the first pair of chromosomes (both metacentric, were the largest among all analyzed, respectively. All remaining 38 pairs of chromosomes were acrocentric with Y chromosome as the smallest one (in males’ karyograms. Blood collected with blood sucking bugs proved to be unsuitable for cell culture. None of the seven established cultures was effective as lymphocytes obtained with this method did not show growth potential in prepared media. Thus, blood collected from the tapirs via Dipetalogaster maxima species did not show usefulness for cytogenetic studies due to the inability of cells to proliferation, even after a relatively short period of time elapsed since the blood sampling (1 to 2 hours.

  4. Cytogenetic effects of radiation from Chernobyl nuclear accident on humans and animals in the contaminated area of Belarus

    International Nuclear Information System (INIS)

    Yeliseeva, K.; Mikhalevich, L.; Kartel, N.

    1995-01-01

    Cytogenetic monitoring of amphibian and rodent populations, and children from the radio contaminated regions of the Republic of Belarus was conducted as a follow up to Chernobyl nuclear accident. A statistically significant increase in the levels of cytogenetic damage in bone marrow cells of amphibians and rodent and in peripheral blood lymphocytes of children was found. The presence of chromosome-type aberrations supports the conclusion that radiation is the causative agent. However, no direct relationship between the level of radionuclide contamination and the degree of the cytogenetic damage was found. (Author)

  5. Systematic review automation technologies

    Science.gov (United States)

    2014-01-01

    Systematic reviews, a cornerstone of evidence-based medicine, are not produced quickly enough to support clinical practice. The cost of production, availability of the requisite expertise and timeliness are often quoted as major contributors for the delay. This detailed survey of the state of the art of information systems designed to support or automate individual tasks in the systematic review, and in particular systematic reviews of randomized controlled clinical trials, reveals trends that see the convergence of several parallel research projects. We surveyed literature describing informatics systems that support or automate the processes of systematic review or each of the tasks of the systematic review. Several projects focus on automating, simplifying and/or streamlining specific tasks of the systematic review. Some tasks are already fully automated while others are still largely manual. In this review, we describe each task and the effect that its automation would have on the entire systematic review process, summarize the existing information system support for each task, and highlight where further research is needed for realizing automation for the task. Integration of the systems that automate systematic review tasks may lead to a revised systematic review workflow. We envisage the optimized workflow will lead to system in which each systematic review is described as a computer program that automatically retrieves relevant trials, appraises them, extracts and synthesizes data, evaluates the risk of bias, performs meta-analysis calculations, and produces a report in real time. PMID:25005128

  6. On-Site School Library Automation: Automation Anywhere with Laptops.

    Science.gov (United States)

    Gunn, Holly; Oxner, June

    2000-01-01

    Four years after the Halifax Regional School Board was formed through amalgamation, over 75% of its school libraries were automated. On-site automation with laptops was a quicker, more efficient way of automating than sending a shelf list to the Technical Services Department. The Eastern Shore School Library Automation Project was a successful…

  7. Automated electron microprobe

    International Nuclear Information System (INIS)

    Thompson, K.A.; Walker, L.R.

    1986-01-01

    The Plant Laboratory at the Oak Ridge Y-12 Plant has recently obtained a Cameca MBX electron microprobe with a Tracor Northern TN5500 automation system. This allows full stage and spectrometer automation and digital beam control. The capabilities of the system include qualitative and quantitative elemental microanalysis for all elements above and including boron in atomic number, high- and low-magnification imaging and processing, elemental mapping and enhancement, and particle size, shape, and composition analyses. Very low magnification, quantitative elemental mapping using stage control (which is of particular interest) has been accomplished along with automated size, shape, and composition analysis over a large relative area

  8. Operational proof of automation

    International Nuclear Information System (INIS)

    Jaerschky, R.; Reifenhaeuser, R.; Schlicht, K.

    1976-01-01

    Automation of the power plant process may imply quite a number of problems. The automation of dynamic operations requires complicated programmes often interfering in several branched areas. This reduces clarity for the operating and maintenance staff, whilst increasing the possibilities of errors. The synthesis and the organization of standardized equipment have proved very successful. The possibilities offered by this kind of automation for improving the operation of power plants will only sufficiently and correctly be turned to profit, however, if the application of these technics of equipment is further improved and if its volume is tallied with a definite etc. (orig.) [de

  9. Chef infrastructure automation cookbook

    CERN Document Server

    Marschall, Matthias

    2013-01-01

    Chef Infrastructure Automation Cookbook contains practical recipes on everything you will need to automate your infrastructure using Chef. The book is packed with illustrated code examples to automate your server and cloud infrastructure.The book first shows you the simplest way to achieve a certain task. Then it explains every step in detail, so that you can build your knowledge about how things work. Eventually, the book shows you additional things to consider for each approach. That way, you can learn step-by-step and build profound knowledge on how to go about your configuration management

  10. Automation Interface Design Development

    Data.gov (United States)

    National Aeronautics and Space Administration — Our research makes its contributions at two levels. At one level, we addressed the problems of interaction between humans and computers/automation in a particular...

  11. Automated Vehicles Symposium 2014

    CERN Document Server

    Beiker, Sven; Road Vehicle Automation 2

    2015-01-01

    This paper collection is the second volume of the LNMOB series on Road Vehicle Automation. The book contains a comprehensive review of current technical, socio-economic, and legal perspectives written by experts coming from public authorities, companies and universities in the U.S., Europe and Japan. It originates from the Automated Vehicle Symposium 2014, which was jointly organized by the Association for Unmanned Vehicle Systems International (AUVSI) and the Transportation Research Board (TRB) in Burlingame, CA, in July 2014. The contributions discuss the challenges arising from the integration of highly automated and self-driving vehicles into the transportation system, with a focus on human factors and different deployment scenarios. This book is an indispensable source of information for academic researchers, industrial engineers, and policy makers interested in the topic of road vehicle automation.

  12. Fixed automated spray technology.

    Science.gov (United States)

    2011-04-19

    This research project evaluated the construction and performance of Boschungs Fixed Automated : Spray Technology (FAST) system. The FAST system automatically sprays de-icing material on : the bridge when icing conditions are about to occur. The FA...

  13. Automated Vehicles Symposium 2015

    CERN Document Server

    Beiker, Sven

    2016-01-01

    This edited book comprises papers about the impacts, benefits and challenges of connected and automated cars. It is the third volume of the LNMOB series dealing with Road Vehicle Automation. The book comprises contributions from researchers, industry practitioners and policy makers, covering perspectives from the U.S., Europe and Japan. It is based on the Automated Vehicles Symposium 2015 which was jointly organized by the Association of Unmanned Vehicle Systems International (AUVSI) and the Transportation Research Board (TRB) in Ann Arbor, Michigan, in July 2015. The topical spectrum includes, but is not limited to, public sector activities, human factors, ethical and business aspects, energy and technological perspectives, vehicle systems and transportation infrastructure. This book is an indispensable source of information for academic researchers, industrial engineers and policy makers interested in the topic of road vehicle automation.

  14. Automation synthesis modules review

    International Nuclear Information System (INIS)

    Boschi, S.; Lodi, F.; Malizia, C.; Cicoria, G.; Marengo, M.

    2013-01-01

    The introduction of 68 Ga labelled tracers has changed the diagnostic approach to neuroendocrine tumours and the availability of a reliable, long-lived 68 Ge/ 68 Ga generator has been at the bases of the development of 68 Ga radiopharmacy. The huge increase in clinical demand, the impact of regulatory issues and a careful radioprotection of the operators have boosted for extensive automation of the production process. The development of automated systems for 68 Ga radiochemistry, different engineering and software strategies and post-processing of the eluate were discussed along with impact of automation with regulations. - Highlights: ► Generators availability and robust chemistry boosted for the huge diffusion of 68Ga radiopharmaceuticals. ► Different technological approaches for 68Ga radiopharmaceuticals will be discussed. ► Generator eluate post processing and evolution to cassette based systems were the major issues in automation. ► Impact of regulations on the technological development will be also considered

  15. Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister–Killian syndrome detected by amniocentesis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2017-12-01

    Conclusion: Pregnancy with fetal PKS and mosaic tetrasomy 12p may present fetoplacental cytogenetic discrepancy. Therefore, genetic analysis on placenta alone may fail to detect fetal mosaic tetrasomy 12p associated with PKS.

  16. An unusual cytogenetic rearrangement originating from two different abnormalities in chromosome 6 in a child with acute promyelocytic leukemia.

    Science.gov (United States)

    Matos, R R C; Mkrtchyan, H; Amaral, B A S; Liehr, T; de Souza, M T; Ney-Garcia, D R; Santos, N; Marques-Salles, T J; Ribeiro, R C; Figueiredo, A F; Silva, M L M

    2013-01-01

    Acute promyelocytic leukemia (APL) is usually associated with a favorable outcome, but about 10% of patients tend to relapse. The genetic hallmark of APL is a balanced translocation involving chromosomes 15 and 17, and the PML-RARa gene fusion is found in more than 90% of these cases. Other chromosomal abnormalities are commonly found in APL, but their clinical significance has yet to be determined. Here we report a case of childhood APL that was studied by conventional cytogenetics along with molecular cytogenetic techniques. The patient showed a complex karyotype with an unusual cytogenetic rearrangement originating from two different abnormalities in a single chromosome 6. Our case is an exceptional example of a cryptic cytogenetic anomaly in APL and underscores the importance of detailed genetic characterization. Copyright © 2013 S. Karger AG, Basel.

  17. Disassembly automation automated systems with cognitive abilities

    CERN Document Server

    Vongbunyong, Supachai

    2015-01-01

    This book presents a number of aspects to be considered in the development of disassembly automation, including the mechanical system, vision system and intelligent planner. The implementation of cognitive robotics increases the flexibility and degree of autonomy of the disassembly system. Disassembly, as a step in the treatment of end-of-life products, can allow the recovery of embodied value left within disposed products, as well as the appropriate separation of potentially-hazardous components. In the end-of-life treatment industry, disassembly has largely been limited to manual labor, which is expensive in developed countries. Automation is one possible solution for economic feasibility. The target audience primarily comprises researchers and experts in the field, but the book may also be beneficial for graduate students.

  18. Automated Lattice Perturbation Theory

    Energy Technology Data Exchange (ETDEWEB)

    Monahan, Christopher

    2014-11-01

    I review recent developments in automated lattice perturbation theory. Starting with an overview of lattice perturbation theory, I focus on the three automation packages currently "on the market": HiPPy/HPsrc, Pastor and PhySyCAl. I highlight some recent applications of these methods, particularly in B physics. In the final section I briefly discuss the related, but distinct, approach of numerical stochastic perturbation theory.

  19. Automated ISMS control auditability

    OpenAIRE

    Suomu, Mikko

    2015-01-01

    This thesis focuses on researching a possible reference model for automated ISMS’s (Information Security Management System) technical control auditability. The main objective was to develop a generic framework for automated compliance status monitoring of the ISO27001:2013 standard which could be re‐used in any ISMS system. The framework was tested with Proof of Concept (PoC) empirical research in a test infrastructure which simulates the framework target deployment environment. To fulfi...

  20. Marketing automation supporting sales

    OpenAIRE

    Sandell, Niko

    2016-01-01

    The past couple of decades has been a time of major changes in marketing. Digitalization has become a permanent part of marketing and at the same time enabled efficient collection of data. Personalization and customization of content are playing a crucial role in marketing when new customers are acquired. This has also created a need for automation to facilitate the distribution of targeted content. As a result of successful marketing automation more information of the customers is gathered ...

  1. Automated security management

    CERN Document Server

    Al-Shaer, Ehab; Xie, Geoffrey

    2013-01-01

    In this contributed volume, leading international researchers explore configuration modeling and checking, vulnerability and risk assessment, configuration analysis, and diagnostics and discovery. The authors equip readers to understand automated security management systems and techniques that increase overall network assurability and usability. These constantly changing networks defend against cyber attacks by integrating hundreds of security devices such as firewalls, IPSec gateways, IDS/IPS, authentication servers, authorization/RBAC servers, and crypto systems. Automated Security Managemen

  2. Automated lattice data generation

    Directory of Open Access Journals (Sweden)

    Ayyar Venkitesh

    2018-01-01

    Full Text Available The process of generating ensembles of gauge configurations (and measuring various observables over them can be tedious and error-prone when done “by hand”. In practice, most of this procedure can be automated with the use of a workflow manager. We discuss how this automation can be accomplished using Taxi, a minimal Python-based workflow manager built for generating lattice data. We present a case study demonstrating this technology.

  3. An informative constitutional cytogenetic marker found in a patient post bone marrow transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Zaslav, A.L.; Graziano, J.; Ebert, R. [Albert Einstein College of Medicine, New Hyde Park, NY (United States)] [and others

    1994-09-01

    It is cytogenetically difficult to distinguish between host and donor cells in allogeneic bone marrow transplantation (BMT) individuals of the same sex. Here we describe a patient with a cytogenetic marker found after BMT. A 7-month-old male presented with leukemia which was CD7+, CD33+, HLADR+, and CD4-, CD8-, indicating a diagnosis of acute stem cell leukemia (ASCL). Cytogenetic analysis revealed an abnormal clone in all of the cells analyzed: 46,XY,t(2;8)(p11.2;q24),inv(9)(p13p24). This translocation is associated with B-cell acute lymphoblastic leukemia (ALL); thus, it was possible for this patient to develop B-cell ALL. The abnormal clone persisted along with normal 46,XY cells, and evolved in several of seven additional analyses. The patient was treated with two courses of chemotherapy and failed to attain cytogenetic remission. While in relapse, the patient received a BMT from his 3-year-old brother. Two weeks later, a different translocation was seen in all cells: 46,XY,t(3;12)(p21;q21). This result could be interpreted in two ways: (1) the structural abnormality was indicative of a newly evolved clone related to the patient`s disease; or (2) the donor was a balanced translocation carrier. Cytogenetic analysis of peripheral blood from the donor revealed the same translocation seen in the patient. Parental blood chromosomes were normal indicating that the donor carried a de novo balanced translocation. Subsequent chromosome analysis of both peripheral blood and BM from the patient revealed the presence of the translocation in all cells. De novo balanced translocations are rare and occur with a frequency of 1/2,000 live borns. The family received genetic counseling and was informed of the possible reproductive risks to translocation carriers. This unusual finding will serve as a useful cytogenetic marker to assist in monitoring the patient`s clinical course, i.e., chimerism and remission status.

  4. Monitoring of DNA and cytogenetic damage in lymphocytes from persons with skin cancer diseases

    International Nuclear Information System (INIS)

    Cebulska-Wasilewska, A.; Dyga, W.; Krasnowolski, S.; Wierzewska, A.; Budzanowska, E.

    1999-01-01

    There is a lot of interest in the studies that would help to understand whether there is a casual association between cancer and various types of molecular or cytogenetic damage detected in human cells. One major oncogenesis process is activation of proto-oncogenes by point mutations or chromosomal translocation. There are substantial evidence that indicates that the loss of heterozygosity of certain chromosomes is involved in human cancerogenesis. Our study aimed to elicit the possible association between cancer and DNA and cytogenetic abnormalities induced in lymphocytes of people bearing various categories of skin cancer cells. Fresh blood was collected by venipuncture from 25 individuals (including nine prior to cancer treatment). All patients were nonsmoking males, however 42.3 % of them were former smokers. Blood samples were divided into two parts and in the first part of samples cytogenetic studies were performed immediately, while from the second part lymphocytes were isolated and stored at -70 o C for further studies in vitro. In the later one a single cell gel electrophoresis assay (SCGE) known as a Comet assay was performed to study individual susceptibility to the induction of DNA damage by UV or radiation and to estimate variability in cellular repair capabilities. An average of 220 per sample of good metaphase spreads in the first mitotic division, and 100 per sample in the second division, were accepted for analysis of cytogenetic damage. Chromosome and chromatid type aberrations were scored in the cells in the first mitosis and expressed as total aberration frequency including gaps and excluding gaps. Sister chromatid exchanges, high frequency cells and proliferative rate index were screened and evaluated in the second mitosis. Each of the patient revealed exceeding in at least one of the cytogenetic biomarkers level from the biomarker's level detected in a reference group. In order to estimate susceptibility of people to environmentally induced

  5. Cytogenetic effects induced by deposit mycoflora in Zea mays l. seeds from the collection of suceava genebank

    OpenAIRE

    Diana Batir-Rusu; Cristinel Tudose

    2009-01-01

    The purpose of our work was to study the cytogenetic effects induced by deposit mycoflora in Zea mays L. (2n = 20) seeds from the collection of Suceava Genebank. Cytogenetic effects were studied by means of classical plant chromosomes methods of study. We have observed that the values of the mitotic indexes are decreasing in accordance with the increasing of the storage age and also with the number of mycoflora species that are infesting the grains. Infestation with specific mycof...

  6. Rare cytogenetic abnormalities and alteration of microRNAs in acute myeloid leukemia and response to therapy

    OpenAIRE

    Mohammad Shahjahani; Elham Khodadi; Mohammad Seghatoleslami; Javad Mohammadi Asl; Neda Golchin; Zeynab Deris Zaieri; Najmaldin Saki

    2015-01-01

    Acute myeloid leukemia (AML) is the most common acute leukemia in adults, which is heterogeneous in terms of morphological, cytogenetic and clinical features. Cytogenetic abnormalities, including karyotype aberrations, gene mutations and gene expression abnormalities are the most important diagnostic tools in diagnosis, classification and prognosis in acute myeloid leukemias. Based on World Health Organization (WHO) classification, acute myeloid leukemias can be divided to four groups. Due to...

  7. The value of cytogenetic monitoring versus film dosimetry in the hot zone of a nuclear power plant

    International Nuclear Information System (INIS)

    Kubelka, D.; Fucic, A.; Milkovic-Kraus, S.

    1992-01-01

    Cytogenetic analysis was carried out in 41 workers prior to and following regular maintenance work in a nuclear power plant. Although film dosimetry did not show the maximal annual permitted dose in any of the examined subjects, cytogenetic analysis carried out following the work detected dicentric chromosomes in peripheral blood lymphocytes of 20 workers. According to our findings smoking habits and previous exposure to ionizing radiation had no effect on the increased number of chromosomal aberrations. (author). 23 refs.; 1 tab

  8. Treatment of multiple myeloma with high-risk cytogenetics: a consensus of the International Myeloma Working Group

    Science.gov (United States)

    Avet-Loiseau, Hervé; Lonial, Sagar; Usmani, Saad; Siegel, David; Anderson, Kenneth C.; Chng, Wee-Joo; Moreau, Philippe; Attal, Michel; Kyle, Robert A.; Caers, Jo; Hillengass, Jens; San Miguel, Jesús; van de Donk, Niels W. C. J.; Einsele, Hermann; Bladé, Joan; Durie, Brian G. M.; Goldschmidt, Hartmut; Mateos, María-Victoria; Palumbo, Antonio; Orlowski, Robert

    2016-01-01

    The International Myeloma Working Group consensus updates the definition for high-risk (HR) multiple myeloma based on cytogenetics Several cytogenetic abnormalities such as t(4;14), del(17/17p), t(14;16), t(14;20), nonhyperdiploidy, and gain(1q) were identified that confer poor prognosis. The prognosis of patients showing these abnormalities may vary with the choice of therapy. Treatment strategies have shown promise for HR cytogenetic diseases, such as proteasome inhibition in combination with lenalidomide/pomalidomide, double autologous stem cell transplant plus bortezomib, or combination of immunotherapy with lenalidomide or pomalidomide. Careful analysis of cytogenetic subgroups in trials comparing different treatments remains an important goal. Cross-trial comparisons may provide insight into the effect of new drugs in patients with cytogenetic abnormalities. However, to achieve this, consensus on definitions of analytical techniques, proportion of abnormal cells, and treatment regimens is needed. Based on data available today, bortezomib and carfilzomib treatment appear to improve complete response, progression-free survival, and overall survival in t(4;14) and del(17/17p), whereas lenalidomide may be associated with improved progression-free survival in t(4;14) and del(17/17p). Patients with multiple adverse cytogenetic abnormalities do not benefit from these agents. FISH data are implemented in the revised International Staging System for risk stratification. PMID:27002115

  9. A comparative study of phytohaemagglutinin and extract of Phaseolus vulgaris seeds by characterization and cytogenetics

    Science.gov (United States)

    Badari Nath, A. R. S.; Sivaramakrishna, A.; Marimuthu, K. M.; Saraswathy, Radha

    2015-01-01

    Phytohaemagglutinin (PHA) is a lectin obtained from Phaseolus vulgaris (red kidney beans), that acts as a mitogen in human leucocyte culture and is commercially available from Gibco®. This PHA (Gibco®) was found to be very expensive, hence other inexpensive sources that can be used in all kinds of cytogenetics labs (rich and poor), were attempted. One such successful attempt was PHA extract from seeds of P.vulgaris. This paper details the methodology of extraction and application of PHA from seeds of P.vulgaris. Attempts has been made to identify the chemical and physical properties of the products in the extract, analyzed by various spectroscopic and analytical techniques. The analysis clearly indicates that the product from Phaseolus seeds extract was found to be similar to the commercially available PHA (Gibco®) in the cytogenetic study of human leucocyte cultures. The present study enforces the possible utility of the plant extract directly for human leucocyte cultures.

  10. Studying the effect of antioxidants on cytogenetic manifestations of solvent exposure in the paint industry.

    Science.gov (United States)

    El Safty, Aamal; Metwally, Fateheya Mohamed; Mohammed Samir, Aisha; ElShahawy, Amir; Raouf, Ehab Abdel

    2015-12-01

    To investigate the antioxidant role in reversing cytogenetic changes caused by solvent exposure in paint industry. A prospective controlled clinical trial was performed on 39 workers exposed to solvents and 39 workers not exposed to solvents by supplying a mixture of antioxidant vitamins (A, C, E and selenium) and the after effects of such regimen were analyzed. Environmental monitoring was carried out for air concentrations of different solvents at workplace. Exposed group was cytogenetically tested before and after giving the mixture of antioxidant vitamins for 1 month duration. Frequency of chromosomal aberrations (CAs) and the mean of sister chromatid exchanges (SCEs) were statistically significantly higher among exposed workers than among controls. After the supplementation of antioxidants, there was a statistically significant decrease in the frequency of CAs, and 88% abnormal levels of SCEs were back to normal levels. Antioxidant supplementation decreases the frequency of CAs and SCEs among exposed workers. © The Author(s) 2013.

  11. [Cytogenetical and molecular analyses in a horse with SRY-negative sex reversal].

    Science.gov (United States)

    Pieńkowska-Schelling, A; Becker, D; Bracher, V; Pineroli, B; Schelling, C

    2014-07-01

    Numerical and structural aberrations of chromosomes may cause malformations, embryonal losses and reduced or missing fertility. In male horses the fertility is rather well controlled through their semen evaluation. For mares there are no mandatory regulations which specify their use in a breeding programme. Therefore, mares with chromosomal aberrations, which exclude reproduction success may be chosen for breeding. The present case describes a horse, offically registered as a female, which was presented for a breeding exam. On this occasion, small and inactive ovaries were diagnosed. Although the cytogenetical analysis excluded a numerical or gross structural chromosome aberration, the karyotype (64,XY) corresponded to the male sex. The diagnosis male to female sex-reversal (SRY-negative) excludes reproductive success for this horse. This case underlines the importance of a cytogenetic analysis for female horses, before they enter a breeding programme.

  12. Comparative Cytogenetic Study on the Toxicity of Magnetite and Zinc Ferrite Nanoparticles in Sunflower Root Cells

    Science.gov (United States)

    Foca-nici, Ecaterina; Capraru, Gabriela; Creanga, Dorina

    2010-12-01

    In this experimental study the authors present their results regarding the cellular division rate and the percentage of chromosomal aberrations in the root meristematic cells of Helianthus annuus cultivated in the presence of different volume fractions of magnetic nanoparticle suspensions, ranging between 20 and 100 microl/l. The aqueous magnetic colloids were prepared from chemically co-precipitated ferrites coated in sodium oleate. Tissue samples from the root meristeme of 2-3 day old germinated seeds were taken to prepare microscope slides following Squash method combined with Fuelgen techniques. Microscope investigation (cytogenetic tests) has resulted in the evaluation of mitotic index and chromosomal aberration index that appeared diminished and respectively increased following the addition of magnetic nanoparticles in the culture medium of the young seedlings. Zinc ferrite toxic influence appeared to be higher than that of magnetite, according to both cytogenetic parameters.

  13. Flow cytogenetic studies in chromosomes and whole cells for the detection of clastogenic effects

    International Nuclear Information System (INIS)

    Otto, F.J.; Oldiges, H.

    1980-01-01

    Flow cytometric measurements of the chromosomal DNA content have been used to develop a screening method for the detection of chemically- or physically-induced cytogenetic damage. The reproducibility of this flow cytogenetic assay was shown in a series of subcultures of a Chinese hamster cell clone. The accuracy and sensitivity was tested in cultures treated with chemical mutagens and x-rays. The clastogenic effectiveness was quantified and the dose-effect relationship was established by the increase of the coefficient of variation of the peak of the largest chromosome type in the flow histograms. Since structural chromosome aberrations cause an unequal division of the DNA at mitosis, it is expected that clastogenic effects can be detected also in whole cells of growing populations as an increased dispersion of the cellular DNA content. In order to test this feature, high resolution flow cytometric measurements were performed in x-irradiated hamster cells in vitro and mouse bone marrow cells in vivo

  14. Genetic and cytogenetic characterization of genetic sexing strains of Bactrocera dorsalis and Bactrocera cucurbitae (Diptera: Tephritidae).

    Science.gov (United States)

    Zacharopoulou, A; Franz, G

    2013-04-01

    In the current study, we performed genetic and cytogenetic analyses of two genetic sexing strains (GSSs), one for Bactrocera dorsalis s.s. and one for melon fly, Bactrocera cucurbitae Coquillett, the first such strains ever constructed in these species. In both strains, the genetic sexing mechanism is based on a pupal color dimorphism (white or brown) and is the result of a reciprocal translocation between the Y chromosome and the autosome bearing the white pupae (wp) locus. Based on genetic analysis and cytological data on mitotic metaphases and larval salivary gland polytene chromosomes, we succeeded in mapping the autosome breakpoints in the two Y-autosome translocations even though the Y chromosome is not visible in polytene nuclei. We show that polytene chromosomes can be used in cytogenetic analyses toward the development of genetic control methods in these pest species. The results of the genetic analysis are in full agreement with the cytological description of the strains.

  15. Cryptic PML-RARα positive acute promyelocytic leukemia with unusual morphology and cytogenetics

    Directory of Open Access Journals (Sweden)

    Goyal Manu

    2010-10-01

    Full Text Available Acute Promyelocytic Leukemia (APL is different from other forms of acute myeloid leukemia (AML, to the reason being the potential devastating coagulopathy and the sensitivity to all-trans retinoic acid (ATRA and arsenic trioxide (As 2 O 3 . We hereby present a case of APL, morphologically distinct from the hypergranular APL; however, the flow cytometry revealed a characteristic phenotype showing dim CD45, bright CD13, bright CD33 and dim CD117 positivity. These were negative for CD34, HLA-DR, B-lymphoid and T-lymphoid lineage markers. Conventional cytogenetics revealed a distinct karyotype of a male with translocation t(4;15(q34.2:q26.3. However, interphase florescence-in-situ hybridization (FISH revealed PML/RARA fusion signal on chromosome 15 in 90% cells. The cryptic translocations may be missed on conventional cytogenetics, however, need to be picked by other techniques as FISH.

  16. Cytogenetic analysis of gingival epithelial cells, as related to smoking habits and occurrence of periodontal disease.

    Science.gov (United States)

    D'Agostini, Francesco; Calcagno, Enrico; Micale, Rosanna T; La Maestra, Sebastiano; De Flora, Silvio; Cingano, Luciano

    2013-01-01

    Periodontal disease, progressing from gingivitis to periodontitis, affects the majority of the world population. Its pathogenesis is related to a complex interaction between environmental, microbial, genetic and other host factors, tobacco smoking being the most important environmental risk factor. Conflicting results are reported in the literature regarding the effects of smoking habits on cytogenetic damage in exfoliated oral cells. We report herein the results of a study evaluating, for the first time, the frequency of micronucleated and binucleated cells in the gingival epithelium. There was no significant elevation of these cytogenetic end-points in 43 subjects as related to smoking habits (never-smokers, ex-smokers, and current smokers) and periodontal disease (mild, moderate, or severe forms of gingivitis and periodontitis). Therefore, the overall data emerging from the present study do not support the evidence for an association between smoking habits, periodontal disease and genotoxic damage in gingival epithelial cells. Copyright © 2012 Elsevier GmbH. All rights reserved.

  17. [Primary synovial sarcoma of the mediastinum. A case report with immunohistochemistry, ultrastructural and cytogenetic study].

    Science.gov (United States)

    Peoc'h, M; Le Marc'hardour, F; Bost, F; Pasquier, D; Roux, J J; Pinel, N; Leroux, D; Pasquier, B

    1995-01-01

    A biphasic synovial sarcoma occurring in the anterior and inferior mediastinum in a 19-year-old woman is reported. A biopsy showed a mesenchymal proliferation and the tumor was first misdiagnosed as a hemangiopericytoma. Inefficacy of chemotherapy led to a tumorectomy. Histologic and immunohistochemical studies on multiple samples showed a biphasic tumor. Ultrastructural study confirmed the presence of epithelial elements and cytogenetic analysis disclosed a translocation t(X;18) (p11;q11), leading to a diagnosis of synovial sarcoma. Synovial sarcoma of the mediastinum is very rare and to our knowledge has not been previously studied with the help of cytogenetics. Given the biphasic pattern of the tumor and its mediastinal location, it can be confused with mesothelioma. This stresses the interest of chromosome analysis in the study of tumors histologically difficult to classify.

  18. Cytogenetic investigations of persons exposed to professional chronic low-dose irradiation

    International Nuclear Information System (INIS)

    Rangelov, V.; Mitev, L.; Petrunov, P.; Vesselinova, L.

    2005-01-01

    The problem of long term influence of low-doses occupational irradiation is connected with the real assessment of their consequences. The current cytogenetic investigations were done on persons working under occupational chronic external partial irradiation. Accumulated doses of external irradiation are surveyed. Data give ground for suggestion about the relationship between accumulated dose and chromosomal aberrations. The additional damage factors (diagnostic investigations, chemical substances, tobacco addict) have done the more significant influence upon aberrations appearance increasing

  19. Isoderivative of deleted chromosome 20 in primary myelofibrosis (PMF) characterized by molecular cytogenetics and array CGH

    OpenAIRE

    Douet-Guilbert, N.; Andrieux, J.; Laï, J. L.; Morice, P.; Demory, J. L.; Basinko, A.; Ugo, V.; Gueganic, N.; Bris, M. J.; Morel, F.; Braekeleer, M.

    2009-01-01

    Isoderivative of deleted chromosome 20 in primary myelofibrosis (PMF) characterized by molecular cytogenetics and array CGH phone: +33-298-016476 (Braekeleer, M.) (Braekeleer, M.) Laboratoire d?Histologie, d?Embryologie et de Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Brest - 29238 - Brest - FRANCE (Douet-Guilbert, N.) Laboratoire de Cytogenetique, Centre Hospitalier Universitaire de Brest - 29609 - Brest - FRAN...

  20. Taurine effect on cytogenetic lesions in the cornea of mice exposed to 9 Gev proton irradiation

    International Nuclear Information System (INIS)

    Vorozhtsova, S.V.; Yartsev, E.I.

    1989-01-01

    Possibilities of preventive measures and treatment of cytogenetic injuries in the mice cornea, subjected to proton irradiation at 9 Gev were studied. Taurine containing solution (TCS) was used as a radiomodifying agent. It is shown that TCS application enables to decrease aberrant mitoses level in cornea epithelium cells of mice. Antiactinic effect of the above agent is determined by its considerable action on mitotic delay

  1. Comparative cytogenetic analysis of two grasshopper species of the tribe Abracrini (Ommatolampinae, Acrididae)

    OpenAIRE

    de França Rocha, Marília; de Melo, Natoniel Franklin; de Souza, Maria José

    2011-01-01

    The grasshopper species Orthoscapheus rufipes and Eujivarus fusiformis were analyzed using several cytogenetic techniques. The karyotype of O. rufipes, described here for the first time, had a diploid number of 2n = 23, whereas E. fusiformis had a karyotype with 2n = 21. The two species showed the same mechanism of sex determination (XO type) but differed in chromosome morphology. Pericentromeric blocks of constitutive heterochromatin (CH) were detected in the chromosome complement of both sp...

  2. Quince tree (cydonia oblonga Mill.)-breeding bases:seed propagation, cytogenetics and radiosensitivity

    International Nuclear Information System (INIS)

    Dall'Orto, F.A.C.

    1982-01-01

    The following aspects of the marmeleiro, cydonia oblonga Mill., were, researched: media nad periods to supply the seed chilling requirement in moist cold storage (5-10 0 c); quince seeds viability prepared by several extraction processes; seed germination and seedling development; cytogenetic aspects; seeds viability influenced by storage conditions and periods of time for storage; preliminary determination of seed radiosensitivity; concentrations of some macro and micronutrients in quince seedlings obtained from irradiated seeds, and radiosensitivity and interphasic nuclear volumes. (MAC) [pt

  3. Cytogenetic and clinical features of a 13 year old male with trisomy 8

    OpenAIRE

    Balkan, Mahmut; Fidanboy, Mehmet; Özmen, Cihan; Özbek, M. Nuri; Otçu, Selçuk; Kapı, Emin; Budak, Turgay

    2012-01-01

    Trisomy 8 is a relatively rare chromosomal abnormality. The majority of cases present with the mosaic form. Regular trisomy 8 is usually lethal and frequently results in miscarriage, while those with “trisomy 8 mosaicism” are more likely to survive. We report clinical observations and cytogenetic studies of a 13-year-old male with regular trisomy 8 and compared with those of other known cases of trisomy 8. The most discriminating findings for this condition are skeletal anomalies, restricted ...

  4. Definition of the zebrafish genome using flow cytometry and cytogenetic mapping

    Directory of Open Access Journals (Sweden)

    Zhou Yi

    2007-06-01

    Full Text Available Abstract Background The zebrafish (Danio rerio is an important vertebrate model organism system for biomedical research. The syntenic conservation between the zebrafish and human genome allows one to investigate the function of human genes using the zebrafish model. To facilitate analysis of the zebrafish genome, genetic maps have been constructed and sequence annotation of a reference zebrafish genome is ongoing. However, the duplicative nature of teleost genomes, including the zebrafish, complicates accurate assembly and annotation of a representative genome sequence. Cytogenetic approaches provide "anchors" that can be integrated with accumulating genomic data. Results Here, we cytogenetically define the zebrafish genome by first estimating the size of each linkage group (LG chromosome using flow cytometry, followed by the cytogenetic mapping of 575 bacterial artificial chromosome (BAC clones onto metaphase chromosomes. Of the 575 BAC clones, 544 clones localized to apparently unique chromosomal locations. 93.8% of these clones were assigned to a specific LG chromosome location using fluorescence in situ hybridization (FISH and compared to the LG chromosome assignment reported in the zebrafish genome databases. Thirty-one BAC clones localized to multiple chromosomal locations in several different hybridization patterns. From these data, a refined second generation probe panel for each LG chromosome was also constructed. Conclusion The chromosomal mapping of the 575 large-insert DNA clones allows for these clones to be integrated into existing zebrafish mapping data. An accurately annotated zebrafish reference genome serves as a valuable resource for investigating the molecular basis of human diseases using zebrafish mutant models.

  5. FISH and GISH: molecular cytogenetic tools and their applications in ornamental plants.

    Science.gov (United States)

    Younis, Adnan; Ramzan, Fahad; Hwang, Yoon-Jung; Lim, Ki-Byung

    2015-09-01

    The innovations in chromosome engineering have improved the efficiency of interrogation breeding, and the identification and transfer of resistance genes from alien to native species. Recent advances in molecular biology and cytogenetics have brought revolutionary, conceptual developments in mitosis and meiosis research, chromosome structure and manipulation, gene expression and regulation, and gene silencing. Cytogenetic studies offer integrative tools for imaging, genetics, epigenetics, and cytological information that can be employed to enhance chromosome and molecular genomic research in plant taxa. In situ hybridization techniques, such as fluorescence in situ hybridization (FISH) and genomic in situ hybridization (GISH), can identify chromosome morphologies and sequences, amount and distribution of various types of chromatin in chromosomes, and genome organization during the metaphase stage of meiosis. Over the past few decades, various new molecular cytogenetic applications have been developed. The FISH and GISH techniques present an authentic model for analyzing the individual chromosome, chromosomal segments, or the genomes of natural and artificial hybrid plants. These have become the most reliable techniques for studying allopolyploids, because most cultivated plants have been developed through hybridization or polyploidization. Moreover, introgression of the genes and chromatin from the wild types into cultivated species can also be analyzed. Since hybrid derivatives may have variable alien chromosome numbers or chromosome arms, the use of these approaches opens new avenues for accurately identifying genome differences.

  6. How to identify partial exposures to ionizing radiation? Proposal for a cytogenetic method

    International Nuclear Information System (INIS)

    Fernandes, T.S.; Silva, E.B.; Pinto, M.M.P.L.; Amaral, A.; Lloyd, David

    2013-01-01

    In cases of radiological incidents or in occupational exposures to ionizing radiation, the majority of exposures are not related to the total body, but only partial. In this context, if the cytogenetic dosimetry is performed, there will be an underestimation of the absorbed dose due to the dilution of irradiated cells with non-irradiated cells. Considering the norms of NR 32 - Safety and Health in the Work of Health Service - which recommends cytogenetic dosimetry in the investigation of accidental exposures to ionizing radiations, it is necessary to develop of a tool to provide a better identification of partial exposures. With this aim, a partial body exposure was simulated by mixing, in vitro, 70% of blood irradiated with 4 Gy of X-rays with 30% of unirradiated blood from the same healthy donor. Aliquots of this mixture were cultured for 48 and 72 hours. Prolonging the time of cell culture from 48 to 72 hours produced no significant change in the yield of dicentrics. However, when only M1 (first division cells) were analyzed, the frequency of dicentrics per cell was increased. Prolonging the time of cell culture allowed cells in mitotic delay by irradiation to reach metaphase, and thus provides enough time for the damage to be visualized. The results of this research present the proposed method as an important tool in the investigation of exposed individuals, allowing associating the cytogenetic analysis with the real percentage of irradiated cells, contributing significantly for the decision making in terms of occupational health. (author)

  7. Molecular cytogenetic analyses of Epinephelus bruneus and Epinephelus moara (Perciformes, Epinephelidae)

    Science.gov (United States)

    Guo, Minglan; Wang, Shifeng; Su, Yongquan; Zhou, Yongcan; Liu, Min

    2014-01-01

    Genus Epinephelus (Perciformes, Epinephelidae), commonly known as groupers, are usually difficult in species identification for the lack and/or change of morphological specialization. In this study, molecular cytogenetic analyses were firstly performed to identify the closely related species Epinephelus bruneus and E. moara in this genus. The species-specific differences of both fish species showed in karyotype, chromosomal distribution of nucleolar organizer regions (NORs) and localization of 18S rDNA. The heterochromatin (interstitial C-bands) and distribution pattern of telomere (TTAGGG)n in E. bruneus revealed the chromosomal rearrangements and different karyotypic evolutionary characteristics compared to those in E. moara. The cytogenetic data suggested that the lineages of E. bruneus and E. moara were recently derived within the genus Epinephelus, and E. moara exhibited more plesiomorphic features than E. bruneus. All results confirmed that E. moara, which has long been considered a synonym of E. bruneus, is a distinct species in the family Epinephelidae. In addition, molecular cytogenetic analyses are useful in species differentiation and phylogenetic reconstruction in groupers. PMID:24949234

  8. Changes in cytogenetics and molecular genetics in acute myeloid leukemia from childhood to adult age groups.

    Science.gov (United States)

    Creutzig, Ursula; Zimmermann, Martin; Reinhardt, Dirk; Rasche, Mareike; von Neuhoff, Christine; Alpermann, Tamara; Dworzak, Michael; Perglerová, Karolína; Zemanova, Zuzana; Tchinda, Joelle; Bradtke, Jutta; Thiede, Christian; Haferlach, Claudia

    2016-12-15

    To obtain better insight into the biology of acute myeloid leukemia (AML) in various age groups, this study focused on the genetic changes occurring during a lifetime. This study analyzed the relation between age and genetics from birth to 100 years in 5564 patients with de novo AML diagnosed from 1998 to 2012 (1192 patients from nationwide pediatric studies [AML Berlin-Frankfurt-Münster studies 98 and 2004] and 4372 adults registered with the Munich Leukemia Laboratory). The frequencies of cytogenetic subgroups were age-dependent. Favorable subtypes (t(8;21), inv(16)/t(16;16), and t(15;17)) decreased in general from the pediatric age group (2 to groups ( 70 years; P age-specific incidence with age. Interestingly, the frequency of 11q23 abnormalities decreased from infants to older patients. The proportion of clinically relevant molecular aberrations of CCAAT/enhancer binding protein α, nucleophosmin (NPM1), and NPM1/fms-related tyrosine kinase 3-internal tandem duplication increased with age. Altogether, with the exclusion of infants, a significant decrease in the proportion of favorable cytogenetic subtypes and an increase in unfavorable cytogenetics were observed with increasing age. These findings indicate different mechanisms for the pathogenesis of AML; these different mechanisms also suggest directions for etiological research and contribute to the more unfavorable prognosis with increasing age. Cancer 2016;122:3821-3830. © 2016 American Cancer Society. © 2016 American Cancer Society.

  9. Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome

    Directory of Open Access Journals (Sweden)

    Onur Ozer

    2012-04-01

    Full Text Available Objective: Fragile X syndrome (FXS is the most common cause of inherited mental retardation and is due to a mutation in the X-linked FMR1 gene. Molecular genetic testing and chromosome analysis are indicated for this disorder. In this context, we tried to determine the frequency of the FXS, and other chro¬mosomal abnormalities of Turkish pediatric neurology outpatients. Materials and Methods: Cytogenetic and molecular screenings were performed to esti-mate the prevalence of the fragile X in 107 patients with mental retardation, language disorders, hyperactivity, develop¬mental delay or fragile X syndrome phenotype. Only 26 out of 107 patients were screened, molecularly. Results: Cytogenetically fragile X-positive cells was found in 8 cases (7.5% of 107 patients; in 4.7% of males and in 2.8% of females. The autosomal fragile sites (FS was found in 14 (13.1% cases. One (0.9% patient had pericentric inversion of chromosome 9. Molecular analysis were performed for 26 patients and all patients showed normal CGG expansion. Conclusion: In diagnosis of fragile X syndrome, chromosome analysis must be run in conjunction with the molecular studies. It is recommended that all members of the fragile X family under risk should be screened both by cytogenetic and molecular methods. Genetic counseling can be useful to patients and families considering genetic testing. [Cukurova Med J 2012; 37(2.000: 76-83

  10. Atlas of genetics and cytogenetics in oncology and haematology in 2013.

    Science.gov (United States)

    Huret, Jean-Loup; Ahmad, Mohammad; Arsaban, Mélanie; Bernheim, Alain; Cigna, Jérémy; Desangles, François; Guignard, Jean-Christophe; Jacquemot-Perbal, Marie-Christine; Labarussias, Maureen; Leberre, Vanessa; Malo, Anne; Morel-Pair, Catherine; Mossafa, Hossein; Potier, Jean-Claude; Texier, Guillaume; Viguié, Franck; Yau Chun Wan-Senon, Sylvie; Zasadzinski, Alain; Dessen, Philippe

    2013-01-01

    The Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://AtlasGeneticsOncology.org) is a peer-reviewed internet journal/encyclopaedia/database focused on genes implicated in cancer, cytogenetics and clinical entities in cancer and cancer-prone hereditary diseases. The main goal of the Atlas is to provide review articles that describe complementary topics, namely, genes, genetic abnormalities, histopathology, clinical diagnoses and a large iconography. This description, which was historically based on karyotypic abnormalities and in situ hybridization (fluorescence in situ hybridization) techniques, now benefits from comparative genomic hybridization and massive sequencing, uncovering a tremendous amount of genetic rearrangements. As the Atlas combines different types of information (genes, genetic abnormalities, histopathology, clinical diagnoses and external links), its content is currently unique. The Atlas is a cognitive tool for fundamental and clinical research and has developed into an encyclopaedic work. In clinical practice, it contributes to the cytogenetic diagnosis and may guide treatment decision making, particularly regarding rare diseases (because they are numerous and are frequently encountered). Readers as well as the authors of the Atlas are researchers and/or clinicians.

  11. Comparison of Classical Cytogenetics Versus Interphase FISH in Diagnosis of Mosaic Form of Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Shohreh Shargh

    2010-11-01

    Full Text Available Background:Mosaic form of turner syndrome that represented by two or more  cell lines in an affected individual, often has limitation for detection with classical  cytogenetic methods. The present study was carried out to compare the efficiency of  interphase Fluorescence In Situ Hybridisation (FISH and cytogenetic techniques in  detection of mosaic form of turner syndrome.  Methods: All candidate samples for turner syndrome were surveyed with both interphase FISH using DXZ1 as a chromosome X specific probe and the GTG- banding methods. The chi square test was used and a P-value of less than 0.05 was considered as being significant.  Results: Asignificant difference was observed between results obtained from the  application of the two methods under study (P<0.05, indicating that the interphase  FISH is favourably compares to conventional cytogenetics in detection of mosaic  form of X chromosome aneuploidy, as an extended number of cells can be scored in a  limited time.  Conclusion: The results indicate that using the two techniques in parallel allow accurate differentiation between mosaicism and homogenous aneuploidy of X chromosome, and thus both numerical and structural aberrations of the X will be analyzed.

  12. Cytogenetic and morphological diversity in populations of Astyanax fasciatus (Teleostei, Characidae from Brazilian northeastern river basins

    Directory of Open Access Journals (Sweden)

    Aline Souza Medrado

    2008-01-01

    Full Text Available In the present work, morphometric and cytogenetic analyses were carried out in populations of the fish Astyanax fasciatus (Characidae from Contas and Recôncavo Sul River basins (State of Bahia, Brazil, providing new data on the genetic structure of this species along the region. Based on morphologic measurements, we observed that populations from the same hydrographic basin were more similar to each other (Contas and Preto do Costa Rivers, and remarkably divergent from Recôncavo Sul (Mineiro Stream, as indicated by clustering analysis. Cytogenetic data revealed a same diploid number for all populations (2n = 48, but distinct karyotype formulae (8M+24SM+12ST+4A, FN = 92 in Contas River, 8M+24SM+10ST+6A, FN = 90 in Preto do Costa River, and 8M+18SM+16ST+6A, FN = 90 in Mineiro Stream. Ag-NORs were identified at telomeres on a subtelocentric chromosome pair, although multiple ribosomal sites have been detected in some specimens from Contas River. These results show that A. fasciatus populations from northeastern river basins are well differentiated and present peculiar cytogenetic features when compared to populations from other regions. Therefore, the apparent chromosomal plasticity of this species, likely to represent a complex of cryptic forms, is corroborated. Finally, we demonstrated that morphological features can be successfully used to support other sources of genetic information.

  13. [Study on cytogenetic changes with relation to FAB classification in 397 patients with acute leukemias].

    Science.gov (United States)

    Huo, Fei-Fei; Liu, Xin; Sun, Zi-Min; Zhu, Wei-Bo; Zheng, Chang-Cheng; Wang, Jian; Wu, Zhi-Wei

    2011-02-01

    The purpose of study was to investigate the cytogenetic abnormality of acute leukemias (AL), to analyze the relationship in the chromosomal abnormality and the AL FAB types, and to explore the impact of the chromosomal abnormalities on the prognostic factors of AL. The chromosome karyotypes of 397 patients with AL were analyzed by means of bone marrow short-term culture and G banding technique. The results showed that in 319 out of 397 patients, the chromosome karyotypes could be analyzed, and the chromosomal abnormality occurred in 175 patients (54.9%). In the patients with acute lymphocytic leukemia (ALL), acute myelogenous leukemia (AML) and acute mixed-lineage leukemia (AMLL), the chromosomal abnormality occurred respectively in 33 of 120 patients (27.5%), 129 of 252 patients (51.2%) and 13 of 25 patients (52.0%). Hyper-diploids, hypo-diploids and diploids occurred in 41 of 175 patients (23.4%), 22 of 175 patients (12.5%), and 112 of 175 patients (64.0%) respectively. In patients with AML the FAB type-associated chromosomal abnormality occurred in 69 of 129 patients (53.5%). It is concluded that chromosomal abnormalities exist in about 55% AL patients. Some special chromosomal abnormalities are cytogenetic characteristics of AL, and obviously correlated with AL FAB types, the combination of chromosomal detection with cytogenetics is useful for the diagnosis of AL, and the evaluation of therapeutic effects and prognosis.

  14. Molecular cytogenetic analyses of Epinephelus bruneus and Epinephelus moara (Perciformes, Epinephelidae

    Directory of Open Access Journals (Sweden)

    Minglan Guo

    2014-06-01

    Full Text Available Genus Epinephelus (Perciformes, Epinephelidae, commonly known as groupers, are usually difficult in species identification for the lack and/or change of morphological specialization. In this study, molecular cytogenetic analyses were firstly performed to identify the closely related species Epinephelus bruneus and E. moara in this genus. The species-specific differences of both fish species showed in karyotype, chromosomal distribution of nucleolar organizer regions (NORs and localization of 18S rDNA. The heterochromatin (interstitial C-bands and distribution pattern of telomere (TTAGGGn in E. bruneus revealed the chromosomal rearrangements and different karyotypic evolutionary characteristics compared to those in E. moara. The cytogenetic data suggested that the lineages of E. bruneus and E. moara were recently derived within the genus Epinephelus, and E. moara exhibited more plesiomorphic features than E. bruneus. All results confirmed that E. moara, which has long been considered a synonym of E. bruneus, is a distinct species in the family Epinephelidae. In addition, molecular cytogenetic analyses are useful in species differentiation and phylogenetic reconstruction in groupers.

  15. Delayed repair of DNA single-strand breaks does not increase cytogenetic damage

    International Nuclear Information System (INIS)

    Morgan, W.F.; Djordjevic, M.C.; Jostes, R.F.; Pantelias, G.E.

    1985-01-01

    DNA damage and cytogenetic effects of ionizing radiation were investigated in Chinese hamster ovary (CHO) cells and unstimulated human peripheral blood lymphocytes. DNA damage and repair were analysed by alkaline elution under conditions that predominantly measured DNA single-strand breaks (ssb). X-radiation (2.5 Gy) induced ssb in both CHO cells and unstimulated lymphocytes, and the breaks were repaired within 30 and 90 min, respectively. This rapid repair was delayed by the poly(ADP-ribose) polymerase inhibitor, 3-aminobenzamide (3AB). The cytogenetic effects of the 3AB-induced delay in DNA repair were examined by analysing sister chromatid exchange (SCE) frequency in CHO cells and fragmentation of prematurely condensed chromosomes (PCC) in unstimulated human lymphocytes after 2.5 Gy of X-rays. Although 3AB delayed the rejoining of DNA ssb, this delay did not result in increased cytogenetic damage manifested as either SCE or fragmentation of PCC. These results indicate that the rapidly rejoining DNA ssb are not important in the production of chromosome damage. (author)

  16. Mild hyperthermia can induce adaptation to cytogenetic damage caused by subsequent X irradiation

    International Nuclear Information System (INIS)

    Cai, Lu.; Jiang, Jie.

    1995-01-01

    Many low-level environmental agents are able to induce an increased resistance to subsequent mutagenic effects induced by ionizing radiation. In this paper, an induced cytogenetic adaptation to radiation in human lymphocytes was studied with mild hyperthermia as the adaptive treatment and compared with that induced by low-dose radiation. We found that this adaptation could be induced not only in PHA-stimulated human lymphocytes (at 14, 38 and 42 h after addition of PHA), but also in unstimulated G 0 -phase cells (before addition of PHA) by mild hyperthermia (41 degrees C for 1 h) as well as 50 mGy X rays. When the two adaptive treatments were combined, no additive effects on the magnitude of the adaptation induced were observed, suggesting that low-dose radiation and hyperthermia may share one mechanism of induction of adaptation to cytogenetic damage. Some mechanisms which may be involved in the induction of adaptation to cytogenetic damage by low-dose radiation are discussed and compared with the effects of mild hyperthermia in inducing thermotolerance and radioresistance. 56 refs., 4 figs., 3 tabs

  17. Benefit of high-dose daunorubicin in AML induction extends across cytogenetic and molecular groups.

    Science.gov (United States)

    Luskin, Marlise R; Lee, Ju-Whei; Fernandez, Hugo F; Abdel-Wahab, Omar; Bennett, John M; Ketterling, Rhett P; Lazarus, Hillard M; Levine, Ross L; Litzow, Mark R; Paietta, Elisabeth M; Patel, Jay P; Racevskis, Janis; Rowe, Jacob M; Tallman, Martin S; Sun, Zhuoxin; Luger, Selina M

    2016-03-24

    The initial report of the Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Cancer Research Group trial E1900 (#NCT00049517) showed that induction therapy with high-dose (HD) daunorubicin (90 mg/m(2)) improved overall survival in adults cytogenetics or aFLT3-ITD mutation. Here, we update the results of E1900 after longer follow-up (median, 80.1 months among survivors), focusing on the benefit of HD daunorubicin on common genetic subgroups. Compared with standard-dose daunorubicin (45 mg/m(2)), HD daunorubicin is associated with a hazard ratio (HR) for death of 0.74 (P= .001). Younger patients (cytogenetics (HR, 0.51;P= .03 and HR, 0.68;P= .01, respectively). Patients with unfavorable cytogenetics were shown to benefit from HD daunorubicin on multivariable analysis (adjusted HR, 0.66;P= .04). Patients with FLT3-ITD (24%),DNMT3A(24%), and NPM1(26%) mutant AML all benefited from HD daunorubicin (HR, 0.61,P= .009; HR, 0.62,P= .02; and HR, 0.50,P= .002; respectively). HD benefit was seen in the subgroup of older patients (50-60 years) with the FLT3-ITD or NPM1 mutation. Additionally, the presence of an NPM1 mutation confers a favorable prognosis only for patients receiving anthracycline dose intensification during induction. © 2016 by The American Society of Hematology.

  18. Cytogenetics of the Brazilian Bolitoglossa paraensis (Unterstein, 1930 salamanders (Caudata, Plethodontidae

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    Jéssica Barata da Silva

    2014-09-01

    Full Text Available Plethodontid salamanders of genus Bolitoglossa constitute the largest and most diverse group of salamanders, including around 20% of living caudate species. Recent studies have indicated the occurrence of five recognized species in the Brazilian Amazon Rainforest. We present here the first cytogenetic data of a Brazilian salamander, which may prove to be a useful by contribution to the cytotaxonomy of the genus. Specimens were collected near the "type" locality (Utinga, Belém, PA, Brazil. Chromosomal preparations from duodenal epithelial cells and testes were subjected to Giemsa staining, C-banding and DAPI/CMA3 fluorochrome staining. All specimens showed a karyotype with 13 bi-armed chromosome pairs (2n = 26. Nucleolar Organizer Regions, evidenced by CMA3, were located distally on the long arm of pair 7 (7q. DAPI+ heterochromatin was predominantly centromeric, with some small pericentromeric bands. Although the C-banding patterns of other Bolitoglossa species are so far unknown, cytogenetic studies conducted in other Plethodontid salamanders have demonstrated that pericentromeric heterochromatin is a useful cytological marker for identifying interspecific homeologies. Species diversification is usually accompanied by chromosomal changes. Therefore, the cytogenetic characterization of Bolitoglossa populations from the middle and western Brazilian Amazon Basin could identify differences which may lead to the identification of new species.

  19. A preliminary investigation: the impact of microscopic condenser on depth of field in cytogenetic imaging

    Science.gov (United States)

    Ren, Liqiang; Qiu, Yuchen; Li, Zheng; Li, Yuhua; Zheng, Bin; Li, Shibo; Chen, Wei R.; Liu, Hong

    2013-02-01

    As one of the important components of optical microscopes, the condenser has a considerable impact on system performance, especially on the depth of field (DOF). DOF is a critical technical feature in cytogenetic imaging that may affect the efficiency and accuracy of clinical diagnosis. The purpose of this study is to investigate the influence of microscopic condenser on DOF using a prototype of transmitted optical microscope, based on objective and subjective evaluations. After the description of the relationship between condenser and objective lens and the theoretical analysis of the condenser impact on system numerical aperture and DOF, a standard resolution pattern and several cytogenetic samples are adopted to assess the condenser impact on DOF, respectively. The experimental results of these objective and subjective evaluations are in agreement with the theoretical analysis and show that, under the specific intermediate range of condenser numerical aperture ( NAcond ), the DOF value decreases with the increase of NAcond . Although the above qualitative results are obtained under the experimental conditions with a specific prototype system, the methods presented in this preliminary investigation could offer useful guidelines for optimizing operational parameters in cytogenetic imaging.

  20. The impact of the depth of field on cytogenetic image quality in scanning microscopy

    Science.gov (United States)

    Qiu, Yuchen; Chen, Xiaodong; Li, Yuhua; Zheng, Bin; Li, Shibo; Zhang, Roy R.; Chen, Wei R.; Liu, Hong

    2011-03-01

    The purpose of this study is to investigate the impact of the depth of field (DOF) of microscopic systems on cytogenetic image qualities. Due to the narrow DOF of high magnification, large numerical aperture (N.A.) objective lenses, random vibrations of even high precision scanning stages may result in large amount of off focused images. In this study, the DOF of microscopic systems with various objective magnifications/numerical apertures (N.A.) is first measured using standard resolution targets. The impact of DOF on cytogenetic image qualities is then subjectively evaluated with clinical samples, by comparing the band shape and sharpness of analyzable chromosomes. For a specific digital microscopic system with 100× objective lens (N.A. = 1.25), the results of observational studies revealed that chromosomal bands are still recognizable when the images are obtained approximately +/- 1 μm from the focusing plane. The chromosomal bands become fuzzy and unrecognizable when the system is 1.5 μm away from the focusing position. The results of this preliminary experimental study may provide useful design trade-off parameters for developing optimal scanning microscopic systems for cytogenetic applications.

  1. Cytogenetic analysis of peripheral blood lymphocytes after arteriography (exposure to x-rays and contrast medium)

    International Nuclear Information System (INIS)

    Popova, L.; Hadjidekova, V.; Karadjov, G.; Agova, S.; Traskov, D.; Hadjidekov, V.

    2005-01-01

    Backgrounds. The purpose of our study is to investigate the cytogenetic analysis findings in peripheral blood lymphocytes of 29 patients who had undergone diagnostic radiography. Methods. Peripheral blood samples were taken from 22 patients submitted to renal arteriography and 7 patients submitted to cerebral arteriography (17 male and 12 female, aged between 13-68 years). Cytogenetic analyses of peripheral lymphocytes were performed before the procedure, immediately after and 24 hours later. The entrance skin dose obtained during the whole diagnostic X-ray exposure was measured by thermoluminescent dosimeters and varied between 0.03-0.30 Gy. Both low and high osmolarity contrast media were used. Chromosomal aberrations and micronuclei frequency were used as biomarkers of genotoxicity. Results. The estimated frequency of chromosomal aberrations and micronuclei in the peripheral blood lymphocytes of patients after arteriography examination was significantly higher than the level before the diagnostic exposure. The mean frequency of cells with chromosomal aberrations was nearly double after examination and proved to be constant in the analysis after 24 hours. Conclusions. Radiological diagnostic procedures involving iodinated contrast media as arteriography may cause a significant increase in cytogenetic damage in peripheral blood lymphocytes. (author)

  2. Comparative cytogenetic analysis on four tree frog species (Anura, Hylidae, Hylinae) from Brazil.

    Science.gov (United States)

    Kasahara, S; Zampieri Silva, A P; Gruber, S L; Haddad, C F B

    2003-01-01

    A comparative cytogenetic analysis was carried out on four Hylinae tree frogs from Brazil ((Aparasphenodon brunoi, Corythomantis greeningi, Osteocephalus langsdorffii, and Scinax fuscovarius) using Giemsa staining, BrdU replication banding, Ag-NOR staining, C-banding, DAPI and CMA(3) fluorochrome staining, and fluorescence in situ hybridization (FISH) with an rDNA probe. All the species share closely similar 2n = 24 karyotypes, almost indistinguishable by standard staining. The technique of BrdU incorporation allowed the identification of each pair of homologs and the establishment of extensive homeology for the great majority of the chromosomes, mainly of A. brunoi, C. greeningi, and O. langsdorffii. Despite highly conserved replication banding patterns, the use of the other banding techniques disclosed some minor differences, which reinforces the importance of extensive cytogenetic analyses for the karyotypic characterization of Anuran species. The present cytogenetic data confirm the closer proximity of A. brunoi, C. greeningi, and O. langsdorffii, whereas S. fuscovarius is phylogenetically more distant. Copyright 2003 S. Karger AG, Basel

  3. Extramedullary Manifestation in Multiple Myeloma Bears High Incidence of Poor Cytogenetic Aberration and Novel Agents Resistance

    Directory of Open Access Journals (Sweden)

    Xiaoyan Qu

    2015-01-01

    Full Text Available Extramedullary disease (EMD in multiple myeloma (MM patients is an uncommon event and more attention was directed toward the feature of these patients. Cytogenetic aberration is an important characteristic of MM and is associated with patients’ outcome. In this study, we aimed to compare the cytogenetic abnormality of patients with and without extramedullary manifestation, and to analyze the clinical outcomes of novel agents in EMD patients. We retrospectively investigated data from 41 MM patients. Our analyses showed del(17p13 in 31% of EMD versus 13% of medullary disease (P=0.03 and amp(1q21 in 55% versus 32% (P=0.019. No differences were shown in del(13q14 and t(4;14. 24/27 patients with EMD at diagnosis responded to the novel agents-containing regimens. However, when relapsed, 70% of patients did not benefit from the sequential use of novel agents as salvage therapy. In 14 patients who developed EMD at relapse phase, only 2 patients responded to novel agents therapy. Median overall survival of patients with extramedullary manifestations was 30 months, in comparison to 104 months for patients without EMD (P=0.002. Patients with extramedullary manifestation bore high incidence of poor cytogenetic aberration and novel agents resistance.

  4. Application of Molecular Cytogenetic Technique for Rapid Prenatal Diagnosis of Aneuploidies in Iranian Population

    Directory of Open Access Journals (Sweden)

    Habib Nasiri

    2009-06-01

    Full Text Available Objective: Classic cell culture and karyotyping is routinely used for prenatal detection of different chromosomal abnormalities. Molecular cytogenetic techniques have also recently been developed and used for this purpose. Quantitative florescence PCR using short tandem repeat (STR markers has more potential for high throughput diagnosis. Marker heterozygosity in short tandem repeats (STR is of critical importance in the clinical applicablity of this method. Materials and Methods: Different STR markers on chromosomes 13, 18, 21, X and Y  were analysed from  amniotic samples to detect related disorders such as Down, Edward, Patau,  Klinefelter sundromes , as well as sex chromosomes numerical abnormalities . Results: In our population some markers (D18S976, DXS6854, D21S11, and D21S1411 showed alleles with sizes out of expected ranges. But others occupied narrower range of predicted distribution. Most markers have enough heterozygosity (66.3-94.7 to be used for prenatal diagnosis. Furthermore, results obtained from full karyotype for all samples were in concordance with results of molecular cytogenetic testing. Conclusion: It is concluded that, in urgent situations, if proper markers used, molecular cytogenetic testing (QF-PCR could be a useful method for rapid prenatal diagnosis (PND in populations with high rate of consanguinity such as Iran.  

  5. Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases.

    Science.gov (United States)

    Plaiasu, Vasilica; Ochiana, Diana; Motei, Gabriela; Anca, Ioana; Georgescu, Adrian

    2010-07-01

    Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management.

  6. Evaluation of cytogenetic and DNA damage in human lymphocytes treated with adrenaline in vitro.

    Science.gov (United States)

    Djelić, Ninoslav; Radaković, Milena; Spremo-Potparević, Biljana; Zivković, Lada; Bajić, Vladan; Stevanović, Jevrosima; Stanimirović, Zoran

    2015-02-01

    Catechol groups can be involved in redox cycling accompanied by generation of reactive oxygen species (ROS) which may lead to oxidative damage of cellular macromolecules including DNA. The objective of this investigation was to evaluate possible genotoxic effects of a natural catecholamine adrenaline in cultured human lymphocytes using cytogenetic (sister chromatid exchange and micronuclei) and the single cell gel electrophoresis (Comet) assay. In cytogenetic tests, six experimental concentrations of adrenaline were used in a range from 0.01-500 μM. There were no indications of genotoxic effects of adrenaline in sister chromatid exchange and micronucleus tests. However, at four highest concentrations of adrenaline (5 μM, 50 μM, 150 μM and 300 μM) we observed a decreased mitotic index and cell-cycle delay. In addition, in the Comet assay we used adrenaline in a range from 0.0005-500 μM, at two treatment times: 15 min or 60 min. In contrast to cytogenetic analysis, there was a dose-dependent increase of DNA damage detected in the Comet assay. These effects were significantly reduced by concomitant treatment with quercetin or catalase. Therefore, the obtained results indicate that adrenaline may exhibit genotoxic effects in cultured human lymphocytes, most likely due to production of reactive oxygen species. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Mild hyperthermia can induce adaptation to cytogenetic damage caused by subsequent X irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Cai, Lu.; Jiang, Jie. [Norman Bethune Univ. of Medical Sciences, Changchun (China)

    1995-07-01

    Many low-level environmental agents are able to induce an increased resistance to subsequent mutagenic effects induced by ionizing radiation. In this paper, an induced cytogenetic adaptation to radiation in human lymphocytes was studied with mild hyperthermia as the adaptive treatment and compared with that induced by low-dose radiation. We found that this adaptation could be induced not only in PHA-stimulated human lymphocytes (at 14, 38 and 42 h after addition of PHA), but also in unstimulated G{sub 0}-phase cells (before addition of PHA) by mild hyperthermia (41{degrees}C for 1 h) as well as 50 mGy X rays. When the two adaptive treatments were combined, no additive effects on the magnitude of the adaptation induced were observed, suggesting that low-dose radiation and hyperthermia may share one mechanism of induction of adaptation to cytogenetic damage. Some mechanisms which may be involved in the induction of adaptation to cytogenetic damage by low-dose radiation are discussed and compared with the effects of mild hyperthermia in inducing thermotolerance and radioresistance. 56 refs., 4 figs., 3 tabs.

  8. A cytogenetic model predicts relapse risk and survival in patients with acute myeloid leukemia undergoing hematopoietic stem cell transplantation in morphologic complete remission.

    Science.gov (United States)

    Rashidi, Armin; Cashen, Amanda F

    2015-01-01

    Up to 30% of patients with acute myeloid leukemia (AML) and abnormal cytogenetics have persistent cytogenetic abnormalities (pCytAbnl) at morphologic complete remission (mCR). We hypothesized that the prognostic significance of pCytAbnl in patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT) in mCR varies with cytogenetic risk group. We analyzed the data on 118 patients with AML and abnormal cytogenetics who underwent HSCT in mCR, and developed a risk stratification model based on pCytAbnl and cytogenetic risk group. The model distinguished three groups of patients (Pcytogenetics (n=25) had the shortest median time to relapse (TTR; 5 months), relapse-free survival (RFS; 3 months), and overall survival (OS; 7 months). The group with favorable/intermediate risk cytogenetics and without pCytAbnl (n=43) had the longest median TTR (not reached), RFS (57 months), and OS (57 months). The group with pCytAbnl and favorable/intermediate risk cytogenetics, or, without pCytAbnl but with unfavorable risk cytogenetics (n=50) experienced intermediate TTR (18 months), RFS (9 months), and OS (18 months). In conclusion, a cytogenetic risk model identifies patients with AML in mCR with distinct rates of relapse and survival following HSCT. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. DETERMINANT VALUE OF THE CYTOGENETIC AND MOLECULAR IMATINIB THERAPEUTIC RESPONSE IN CHRONIC MYELOID LEUKEMIA

    Directory of Open Access Journals (Sweden)

    Angela Dascalescu

    2013-12-01

    Full Text Available The hallmark of chronic myeloid leukemia is the existence of the cytogenetic evidence of the Phyladelphia chromosome (reciprocal translocation between chromosome 9 and 22, and is specifically designated t(9;22(q34;q11. The result of the translocation is the oncogenic BCR-ABL gene fusion, located on the shorter derivative 22 chromosome. This gene encodes the Bcr-abl fusion protein the BCR-ABL tyrosine kinase - a protein that is continuously activated. The result of this unregulated  activation is an unregulated neoplastic type cell division - chronic myeloid leukemia.   The first targeted molecular treatment operating in cancer-  inhibitor of the BCR-ABL tyrosine kinase, Imatinib mesylate, is the standard of care for chronic myeloid leukemia (CML Methods. A retrospective review of patients in one department of hematology with a diagnosis of Ph/BCR-ABL positive CML and received imatinib.  Results. From 2002 to 2012, 66 patients in CML-CP received imatinib were introduced in the study. 22 (33% patients received imatinib as upfront therapy, the others as second or third line treatment. The cytogenetic response (CyR achieved was major in 62% with 56% complete cytogenetic response (CCR, no CyR in 17 patients (25%. The molecular response was complete in 13 (20% and major in 16 (24% patients. Better cytogenetic and molecular responses were achieved by those with low and intermediary risk (Sokal Seven patients developed under imatinib additional cytogenetic anomalies: supplemental chromosome 8 (6, duplication of Ph1 (2, trisomy 17 and 19 (1. The median of follow-up was 69 months (range 18-180 and under imatinib was 52 months (range 3-126. The Sokal score was a better predictor of survival than Hasford’s.  Conclusions. Imatinib remains the best  first line treatment, but there are still a significant number of patients who did not achieve a CyR. The responses and survival were not influenced by the previous treatments but the earlier introduction

  10. Monitoring of DNA and cytogenetic damage in lymphocytes in patients with skin cancer disease

    International Nuclear Information System (INIS)

    Cebulska-Wasilewska, A.; Dyga, W.; Krasnowolski, S.; Wierzewska, A.; Budzanowska, E.

    1999-01-01

    One major oncogenesis process is activation of proto-oncogenes by point mutations or chromosomal translocations. There is substantial evidence that indicates that human carcinogenesis involves loss of heterozygosity of certain chromosomes. Our study aimed at searching the possible association between cancer and DNA and cytogenetic abnormalities induced in lymphocytes of people with various categories of skin cancer cells. Fresh blood was collected by venepuncture from 25 individuals (including nine prior to cancer treatment). All patients were nonsmoking males, however 42.3% of them were former smokers. Blood samples were divided into two parts; in the first part of samples cytogenetic studies were performed immediately, while lymphocytes from the other part were isolated and stored at -70 0C for further studies in vitro. A single cell gel electrophoresis assay (SCGE), known as a Comet assay, was performed on them to study individual susceptibility to the induction of DNA damage by UV or radiation and to estimate variability in cellular repair capabilities. On average 220 good metaphase spreads per sample in the first mitotic division, and 100 spreads per sample in the second division were accepted for analysis of the cytogenetic damage. Chromosome and chromatid type aberrations were scored in the cells in the first mitosis, and expressed as total aberration frequency including and excluding gaps. Sister chromatid exchanges , high frequency cells and proliferating rate index were screened and evaluated in the second mitosis. Each patient showed a level exceeding (in at least one of the cytogenetic biomarker) the biomarker level in a reference group. In order to estimate susceptibility of people to environmentally induced damage, the isolated lymphocytes were irradiated with 2 Gy dose of X-rays or 6 J/m 2 of UV radiation, and the single cell gel electrophoresis (SCGE assay) was performed. To compare various individual capabilities to repair the induced damage

  11. Automating the CMS DAQ

    Energy Technology Data Exchange (ETDEWEB)

    Bauer, G.; et al.

    2014-01-01

    We present the automation mechanisms that have been added to the Data Acquisition and Run Control systems of the Compact Muon Solenoid (CMS) experiment during Run 1 of the LHC, ranging from the automation of routine tasks to automatic error recovery and context-sensitive guidance to the operator. These mechanisms helped CMS to maintain a data taking efficiency above 90% and to even improve it to 95% towards the end of Run 1, despite an increase in the occurrence of single-event upsets in sub-detector electronics at high LHC luminosity.

  12. Control and automation systems

    International Nuclear Information System (INIS)

    Schmidt, R.; Zillich, H.

    1986-01-01

    A survey is given of the development of control and automation systems for energy uses. General remarks about control and automation schemes are followed by a description of modern process control systems along with process control processes as such. After discussing the particular process control requirements of nuclear power plants the paper deals with the reliability and availability of process control systems and refers to computerized simulation processes. The subsequent paragraphs are dedicated to descriptions of the operating floor, ergonomic conditions, existing systems, flue gas desulfurization systems, the electromagnetic influences on digital circuits as well as of light wave uses. (HAG) [de

  13. Automated nuclear materials accounting

    International Nuclear Information System (INIS)

    Pacak, P.; Moravec, J.

    1982-01-01

    An automated state system of accounting for nuclear materials data was established in Czechoslovakia in 1979. A file was compiled of 12 programs in the PL/1 language. The file is divided into four groups according to logical associations, namely programs for data input and checking, programs for handling the basic data file, programs for report outputs in the form of worksheets and magnetic tape records, and programs for book inventory listing, document inventory handling and materials balance listing. A similar automated system of nuclear fuel inventory for a light water reactor was introduced for internal purposes in the Institute of Nuclear Research (UJV). (H.S.)

  14. Altering user' acceptance of automation through prior automation exposure.

    Science.gov (United States)

    Bekier, Marek; Molesworth, Brett R C

    2017-06-01

    Air navigation service providers worldwide see increased use of automation as one solution to overcome the capacity constraints imbedded in the present air traffic management (ATM) system. However, increased use of automation within any system is dependent on user acceptance. The present research sought to determine if the point at which an individual is no longer willing to accept or cooperate with automation can be manipulated. Forty participants underwent training on a computer-based air traffic control programme, followed by two ATM exercises (order counterbalanced), one with and one without the aid of automation. Results revealed after exposure to a task with automation assistance, user acceptance of high(er) levels of automation ('tipping point') decreased; suggesting it is indeed possible to alter automation acceptance. Practitioner Summary: This paper investigates whether the point at which a user of automation rejects automation (i.e. 'tipping point') is constant or can be manipulated. The results revealed after exposure to a task with automation assistance, user acceptance of high(er) levels of automation decreased; suggesting it is possible to alter automation acceptance.

  15. Enhancing Cytogenetic Biological Dosimetry Capabilities of the Philippines for Nuclear Incident Preparedness.

    Science.gov (United States)

    Asaad, Celia O; Caraos, Gloriamaris L; Robles, Gerardo Jose M; Asa, Anie Day D C; Cobar, Maria Lucia C; Asaad, Al-Ahmadgaid

    2016-01-01

    The utility of a biological dosimeter based on the analysis of dicentrics is invaluable in the event of a radiological emergency wherein the estimated absorbed dose of an exposed individual is crucial in the proper medical management of patients. The technique is also used for routine monitoring of occupationally exposed workers to determine radiation exposure. An in vitro irradiation study of human peripheral blood lymphocytes was conducted to establish a dose-response curve for radiation-induced dicentric aberrations. Blood samples were collected from volunteer donors and together with optically stimulated luminescence (OSL) dosimeters and were irradiated at 0, 0.1, 0.25, 0.5, 0.75, 1, 2, 4, and 6 Gy using a cobalt-60 radiotherapy unit. Blood samples were cultured for 48 h, and the metaphase chromosomes were prepared following the procedure of the International Atomic Energy Agency's Emergency Preparedness and Response - Biodosimetry 2011 manual. At least 100 metaphases were scored for dicentric aberrations at each dose point. The data were analyzed using R language program. The results indicated that the distribution of dicentric cells followed a Poisson distribution and the dose-response curve was established using the estimated model, Y dic = 0.0003 (±0.0003) +0.0336 (±0.0115) × D + 0.0236 (±0.0054) × D 2 . In this study, the reliability of the dose-response curve in estimating the absorbed dose was also validated for 2 and 4 Gy using OSL dosimeters. The data were fitted into the constructed curve. The result of the validation study showed that the obtained estimate for the absorbed exposure doses was close to the true exposure doses.

  16. Idaho: Library Automation and Connectivity.

    Science.gov (United States)

    Bolles, Charles

    1996-01-01

    Provides an overview of the development of cooperative library automation and connectivity in Idaho, including telecommunications capacity, library networks, the Internet, and the role of the state library. Information on six shared automation systems in Idaho is included. (LRW)

  17. Automated HAZOP revisited

    DEFF Research Database (Denmark)

    Taylor, J. R.

    2017-01-01

    Hazard and operability analysis (HAZOP) has developed from a tentative approach to hazard identification for process plants in the early 1970s to an almost universally accepted approach today, and a central technique of safety engineering. Techniques for automated HAZOP analysis were developed...

  18. Automated data model evaluation

    International Nuclear Information System (INIS)

    Kazi, Zoltan; Kazi, Ljubica; Radulovic, Biljana

    2012-01-01

    Modeling process is essential phase within information systems development and implementation. This paper presents methods and techniques for analysis and evaluation of data model correctness. Recent methodologies and development results regarding automation of the process of model correctness analysis and relations with ontology tools has been presented. Key words: Database modeling, Data model correctness, Evaluation

  19. Automated Vehicle Monitoring System

    OpenAIRE

    Wibowo, Agustinus Deddy Arief; Heriansyah, Rudi

    2014-01-01

    An automated vehicle monitoring system is proposed in this paper. The surveillance system is based on image processing techniques such as background subtraction, colour balancing, chain code based shape detection, and blob. The proposed system will detect any human's head as appeared at the side mirrors. The detected head will be tracked and recorded for further action.

  20. Automated Accounting. Instructor Guide.

    Science.gov (United States)

    Moses, Duane R.

    This curriculum guide was developed to assist business instructors using Dac Easy Accounting College Edition Version 2.0 software in their accounting programs. The module consists of four units containing assignment sheets and job sheets designed to enable students to master competencies identified in the area of automated accounting. The first…

  1. Mechatronic Design Automation

    DEFF Research Database (Denmark)

    Fan, Zhun

    successfully design analogue filters, vibration absorbers, micro-electro-mechanical systems, and vehicle suspension systems, all in an automatic or semi-automatic way. It also investigates the very important issue of co-designing plant-structures and dynamic controllers in automated design of Mechatronic...

  2. Protokoller til Home Automation

    DEFF Research Database (Denmark)

    Kjær, Kristian Ellebæk

    2008-01-01

    computer, der kan skifte mellem foruddefinerede indstillinger. Nogle gange kan computeren fjernstyres over internettet, så man kan se hjemmets status fra en computer eller måske endda fra en mobiltelefon. Mens nævnte anvendelser er klassiske indenfor home automation, er yderligere funktionalitet dukket op...

  3. Automated Water Extraction Index

    DEFF Research Database (Denmark)

    Feyisa, Gudina Legese; Meilby, Henrik; Fensholt, Rasmus

    2014-01-01

    of various sorts of environmental noise and at the same time offers a stable threshold value. Thus we introduced a new Automated Water Extraction Index (AWEI) improving classification accuracy in areas that include shadow and dark surfaces that other classification methods often fail to classify correctly...

  4. Myths in test automation

    Directory of Open Access Journals (Sweden)

    Jazmine Francis

    2015-01-01

    Full Text Available Myths in automation of software testing is an issue of discussion that echoes about the areas of service in validation of software industry. Probably, the first though that appears in knowledgeable reader would be Why this old topic again? What's New to discuss the matter? But, for the first time everyone agrees that undoubtedly automation testing today is not today what it used to be ten or fifteen years ago, because it has evolved in scope and magnitude. What began as a simple linear scripts for web applications today has a complex architecture and a hybrid framework to facilitate the implementation of testing applications developed with various platforms and technologies. Undoubtedly automation has advanced, but so did the myths associated with it. The change in perspective and knowledge of people on automation has altered the terrain. This article reflects the points of views and experience of the author in what has to do with the transformation of the original myths in new versions, and how they are derived; also provides his thoughts on the new generation of myths.

  5. Driver Psychology during Automated Platooning

    NARCIS (Netherlands)

    Heikoop, D.D.

    2017-01-01

    With the rapid increase in vehicle automation technology, the call for understanding how humans behave while driving in an automated vehicle becomes more urgent. Vehicles that have automated systems such as Lane Keeping Assist (LKA) or Adaptive Cruise Control (ACC) not only support drivers in their

  6. Combination of broad molecular screening and cytogenetic analysis for genetic risk assignment and diagnosis in patients with acute leukemia.

    Science.gov (United States)

    Meyer-Monard, S; Parlier, V; Passweg, J; Mühlematter, D; Hess, U; Bargetzi, M; Kühne, T; Cabrol, C; Gratwohl, A; Jotterand, M; Tichelli, A

    2006-02-01

    We evaluated the impact of genetic analysis combining cytogenetics and broad molecular screening on leukemia diagnosis according to World Health Organization (WHO) and on genetic risk assignment. A two-step nested multiplex RT-PCR assay was used that allowed the detection of 29 fusion transcripts. A total of 186 patients (104 males (56%), 174 adults (94%), 12 children (6%), 155 AML (83%), 31 ALL (17%)) characterized by morphology and immunophenotyping were included. Of these 186 patients, 120 (65%) had a genetic abnormality. Molecular typing revealed a fusion transcript in 49 (26%) patients and cytogenetic analysis revealed an abnormal karyotype in 119 (64%). A total of 27 (14%) cases were genetically classified as favorable, 107 (58%) intermediate and 52 (28%) unfavorable. For 38 (20%) patients, there was a discrepancy in the genetic risk assignments obtained from broad molecular screening and cytogenetics. Cryptic fusion transcripts in nine (5%) patients changed the genetic risk assignment in four and the WHO classification in four patients. In 34 patients (18%), cytogenetics defined the risk assignment by revealing structural and numerical chromosomal abnormalities not detected by molecular screening. Broad molecular screening and cytogenetics are complementary in the diagnosis and genetic risk assignment of acute leukemia.

  7. CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens

    Directory of Open Access Journals (Sweden)

    MacKinnon Ruth N

    2012-02-01

    Full Text Available Abstract Background The analysis of nucleic acids is limited by the availability of archival specimens and the quality and amount of the extracted material. Archived cytogenetic preparations are stored in many laboratories and are a potential source of total genomic DNA for array karyotyping and other applications. Array CGH using DNA from fixed cytogenetic preparations has been described, but it is not known whether it can be used for SNP arrays. Diagnostic bone marrow specimens taken during the assessment of hematological malignancies are also a potential source of DNA, but it is generally assumed that DNA must be extracted, or the specimen frozen, within a day or two of collection, to obtain DNA suitable for further analysis. We have assessed DNA extracted from these materials for both SNP array and array CGH. Results We show that both SNP array and array CGH can be performed on genomic DNA extracted from cytogenetic specimens stored in Carnoy's fixative, and from bone marrow which has been stored unfrozen, at 4°C, for at least 36 days. We describe a procedure for extracting a usable concentration of total genomic DNA from cytogenetic suspensions of low cellularity. Conclusions The ability to use these archival specimens for DNA-based analysis increases the potential for retrospective genetic analysis of clinical specimens. Fixed cytogenetic preparations and long-term refrigerated bone marrow both provide DNA suitable for array karyotyping, and may be suitable for a wider range of analytical procedures.

  8. Genomic profiling of myeloma: the best approach, a comparison of cytogenetics, FISH and array-CGH of 112 myeloma cases.

    Science.gov (United States)

    Rack, Katrina; Vidrequin, Sébastien; Dargent, Jean-Louis

    2016-01-01

    Chromosome abnormalities are important prognostic factors in myeloma allowing risk stratification of patients. Different techniques are available for their detection including cytogenetics, Fluorescent In Situ Hybridisation (FISH) and array Competitive Genomic Hybridisation (CGH). This study aimed to assess the validity and usefulness of each technique in a diagnostic setting. 112 myeloma cases were analysed by whole bone marrow cytogenetics and by FISH and array CGH performed on purified plasma cell populations. Clonal abnormalities were identified in 30% of cases by cytogenetics and 97% by FISH and array CGH. By combining array and FISH results abnormalities were detected in 99% of cases and, if cytogenetic analysis was also considered, abnormalities were detected in 100% of cases. Cytogenetic analysis is of limited value in myeloma. Array CGH and FISH are highly specific tests allowing the identification of aberrations in virtually all cases. The two techniques are complementary and need to be combined in order to provide a comprehensive analysis of all clinically relevant aberrations in myeloma. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  9. Cytogenetic and Molecular Findings in Children with Acute Lymphoblastic Leukemia: Experience of a Single Institution in Argentina

    Science.gov (United States)

    Coccé, Mariela C.; Alonso, Cristina N.; Rossi, Jorge G.; Bernasconi, Andrea R.; Rampazzi, Maria A.; Felice, Maria S.; Rubio, Patricia L.; Eandi Eberle, Silvia; Medina, Adriana; Gallego, Marta S.

    2015-01-01

    The purpose of the current study was to evaluate the cytogenetic findings in 1,057 children with acute lymphoblastic leukemia (ALL) referred to the cytogenetics laboratory at the Hospital de Pediatría Dr. Juan P. Garrahan, between 1991 and 2014. Chromosomal abnormalities were evaluated by G-banding and FISH. Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants. The percentage of abnormalities detected by cytogenetics was 70.1%. Four novel abnormalities, t(2;8)(p11.2;p22), inv(4)(p16q25), t(1;7)(q25;q32), and t(5;6)(q21;q21), were found in this cohort. We compared cytogenetic and RT-PCR results for BCR-ABL1, KMT2A-AFF1 and TCF3-PBX1 rearrangements in 497 children evaluated by both methods. The results were highly concordant (p cytogenetic findings in children with ALL reported in Argentina. PMID:26648836

  10. The decade of the RABiT (2005-15)

    International Nuclear Information System (INIS)

    Garty, G.; Turner, H.C.; Bertucci, A.; Sharma, P.; Taveras, M.; Bigelow, A.W.; Repin, M.; Lyulko, O.V.; Brenner, D.J.; Salerno, A.; Zhang, J.; Chen, Y.; Bian, D.; Yao, Y.L.; Dutta, A.; Wang, H.; Bhatla, A.; Balajee, A.; Simaan, N.

    2016-01-01

    The RABiT (Rapid Automated Biodosimetry Tool) is a dedicated Robotic platform for the automation of cytogenetics-based biodosimetry assays. The RABiT was developed to fulfill the critical requirement for triage following a mass radiological or nuclear event. Starting from well-characterized and accepted assays we developed a custom robotic platform to automate them. We present here a brief historical overview of the RABiT program at Columbia University from its inception in 2005 until the RABiT was dismantled at the end of 2015. The main focus of this paper is to demonstrate how the biological assays drove development of the custom robotic systems and in turn new advances in commercial robotic platforms inspired small modifications in the assays to allow replacing customized robotics with 'off the shelf' systems. Currently, a second-generation, RABiT II, system at Columbia University, consisting of a PerkinElmer cell::explorer, was programmed to perform the RABiT assays and is undergoing testing and optimization studies. (authors)

  11. Cytogenetic analysis of a mature teratoma and a yolk sac tumor component of a late relapse of a disseminated testicular nonseminoma

    NARCIS (Netherlands)

    van Echten, J; Timmer, B; Sleijfer, DT; de Jong, B; Schraffordt Koops, H.; Dam, A.

    We report on the cytogenetics of a primary testicular nonseminoma, a residual mature teratoma after remission-induction chemotherapy, and a late relapse after 9 years of follow-up, in one patient. The late relapse was composed of a mature teratoma and a yolk sac tumor component. Cytogenetic

  12. Cytogenetic studies in persons, professionally exposed to low doses ionizing radiation

    Energy Technology Data Exchange (ETDEWEB)

    Bulanova, M.; Ivanov, B.; Khristova, M.; Praskova, L.; Mikhajlov, M.; Dovev, I. (Meditsinska Akademiya, Sofia (Bulgaria). Nauchen Inst. po Rentgenologiya i Radiobiologiya)

    1981-01-01

    Cytogenetic techniques were used to examine peripheral lymphocytes taken from 33 subjects employed at the IRT-2000-Sofia Nuclear Reactor and exposed to mixed gamma and neutron radiation in its Zone A. Physical dosimetry data (from pen and film personnel dosimeters) showed the exposures to be below maximum permissible levels, in complience with Radiation Safety Norms in the P.R. of Bulgaria (1972). The subjects were distributed into three groups according to the length of their occupational experience as radiation workers. Comparisons were made with cytogenetic findings in the lymphocyte cultures taken from 30 subjects with no occupational radiation exposure. Radiation workers exhibited a significant increase in chromosomal damage of the chromosome and chromatid type. Subjects with 5-10 years of occupational experience had a higher degree of chromosomal damage than the less-than-5-years group. For persons with more than 10 years of occupational experience, however, no increase over controls could be ascertained in percentage of chromosomal damage. When radiation workers were re-distributed in accord with the exposures received, it was evident that the effect increased with the accumulated dose, the group with about 0.02 Sievert having nearly twice the aberrant cell percentage for the 0.01 Sievert group. In the group of up to 0.05 Sievert, the percentage of aberrant cells was in the order of that observed after exposure to 0.02 Sievert. From the findings in the analysis, radiation quality seemed to play no part in enliciting the cytogenetic response of peripheral lymphocytes.

  13. Cytogenetic and molecular characterization of 57 individuals with the Parder-Willi syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Butler, M.G.; Forrest, K.B.; Miller, L.K. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States)

    1994-09-01

    Prader-Willi syndrome (PWS) is characterized by hypotonia, early childhood obesity, mental deficiency, hypogonadism and an interstitial deletion of 15q11q13 of paternal origin in 50-70% of patients. The remaining patients have either submicroscopic deletions, maternal disomy or other anomalies of chromosome 15. We have undertaken cytogenetic and molecular genetic studies of 57 individuals presenting with features consistent with PWS (28 males and 29 females; age range of 3 months to 38 years), 25 with recognizable 15q11q13 deletions (44%), 28 with normal appearing chromosomes (49%), and four patients with other chromosome 15 anomalies (7%). High resolution chromosome analysis and PCR amplification were performed utilizing 17 STRs from 15q11q13 region, quantitative Southern hybridization using seven 15q11q13 probes, and fluorescence in situ hybridization (FISH) using four 15q11q13 probes (4-3R, SNRPN, 3-21, and GABRB3). The cytogenetic deletion was paternal in all PWS families studied but the deletion varied in size in 10 patients. Parental DNA studies from 20 of 28 non-deletion patients showed maternal disomy in 7 patients and biparental inheritance in 13 non-deletion patients. In order to evaluate for submicroscopic deletions, PCR amplification with several loci in the area of the PWS minimal critical region, FISH using SNRPN and quantitative hybridization using a PCR product generated from primers of exons E and H of the SNRPN gene were undertaken on the non-deletion patients. Quantitative hybridization and FISH using SNRPN from 3 of 11 non-deletion patients (excluding maternal disomy cases) showed a submicroscopic deletion. One of these patients also showed a paternal deletion of D15S128 and MN1. We furthur support the use of both cytogenetic and molecular genetic methods for determining the genetic status of PWS patients.

  14. Human cytogenetic dosimetry: a dose-response relationship for alpha particle radiation from 241Am

    International Nuclear Information System (INIS)

    DuFrain, R.J.; Littlefield, L.G.; Joiner, E.E.; Frome, E.L.

    1979-01-01

    Cytogenetic dosimetry estimates to guide treatment of persons internally contaminated with transuranic elements have not previously been possible because appropriate in vitro dose-response curves specifically for alpha particle irradiation of human lymphocytes do not exist. Using well-controlled cytogenetic methods for human lymphocyte culture, an experimentally derived dose-response curve for 241 Am alpha particle (5.49 and 5.44 MeV) radiation of G 0 lymphocytes was generated. Cells were exposed to 43.8, 87.7, 175.3 or 350.6 nCi/ml 241 Am for 1.7 hr giving doses of 0.85, 1.71, 3.42 or 6.84 rad. Based on dicentric chromosome yield, the linear dose-response equation is Y = 4.90(+-0.42) x 10 -2 X, with Y given as dicentrics per cell and X as dose in rads. The study also shows that the two-break asymmetrical exchanges in cells damaged by alpha particle radiation are overdispersed when compared to a Poisson distribution. An example is presented to show how the derived dose-response equation can be used to estimate the radiation dose for a person internally contaminated with an actinide. An experimentally derived RBE value of 118 at 0.85 rad is calculated for the efficiency of 241 Am alpha particle induction of dicentric chromosomes in human G 0 lymphocytes as compared with the efficiency of 60 Co gamma radiation. The maximum theoretical value for the RBE for cytogenetic damage from alpha irradiation was determined to be 278 at 0.1 rad or less which is in marked contrast to previously reported RBE values of approx. 20. (author)

  15. Comparative cytogenetics in Astyanax (Characiformes: Characidae with focus on the cytotaxonomy of the group

    Directory of Open Access Journals (Sweden)

    Renata Cristina Claudino de Oliveira Tenório

    Full Text Available Astyanax is a diverse group of Neotropical fishes, whose different forms occupy different environments. This great diversity is also reflected on cytogenetic aspects and molecular markers, which have repeatedly been demonstrated by cytogenetic studies. In order to characterize the karyotype of species of this genus, six species were studied: Astyanax altiparanae, A.argyrimarginatus, A. elachylepis, A. xavante, and two new species provisionally called Astyanax sp. and A. aff. bimaculatus. A detailed cytogenetic study based on conventional staining with Giemsa, AgNORs, C-banding, base-specific fluorochromes, and FISH using ribosomal genes 18S and 5S was conducted, aiming to understand some of the chromosomal mechanisms associated with the high diversification that characterizes this group and culminated with the establishment of these species. The results showed 2n = 50 chromosomes for five species and a karyotype with 52 chromosomes in Astyanax sp. Small variations in the macrostructure of the karyotypes were identified, which were quite relevant when analyzed by classical banding, fluorochromes, and FISH methods. These differences among Astyanax spp. (2n = 50 are largely due to changes in the amount and types of heterochromatic blocks. Astyanax sp (2n = 52, in addition to variations due to heterochromatic blocks, has its origin possibly by events of centric fission in a pair of chromosomes followed by minor rearrangements.These results show an interesting karyotypic diversity in Astyanax and indicate the need of a review of the group referred as A. aff. bimaculatus and the description of Astyanax sp., including the possibility of inclusion of this unit in another genus.

  16. Position of cytogenetic examination of cosmonauts for the space radiation expose estimate

    Science.gov (United States)

    Snigireva, Galina; Novitskaya, Natalia; Ivanov, Alexander

    Analysis of chromosome aberrations in human peripheral blood lymphocytes is widely used for the indication and quantitative assessment of radiation. The dose, as estimated by the frequency of chromosome aberrations takes into account not only the physical impact of radiation on the human body but also its individual characteristics, such as radiation sensitivity and functional conditions during irradiation. The purpose of this study was to evaluate the influence of radiation on the chromosome aberration frequency in peripheral blood lymphocytes of the cosmonauts who participated in flights on the ISS (International Space Station). Cytogenetic examination was performed in the period 1992-2013 and included the analysis of chromosome aberrations using conventional Giemsa staining method in blood samples from 38 cosmonauts who participated in flights on the ISS. The cytogenetic examination results showed that cosmic flights lead to an increase of chromosome aberrations in the lymphocytes of cosmonauts. Compared with the pre-flight levels frequencies of dicentrics and centric rings (the radiation exposure markers) are about 4 times higher for cosmonauts after flights. The frequency of chromosome aberrations depends on the length of the flight and, correspondingly, on the accumulated dose of cosmic irradiation. Between flights, a decrease in the chromosome aberration frequency is observed, but even several years after a flight, the level of chromosome aberrations in the lymphocytes of cosmonauts remains high. Cytogenetic monitoring of cosmonauts can undoubtedly play an important role in comprehensive medical surveys of these individuals if we take into account the possible connection of higher levels of chromosomal aberrations with the risk of oncological diseases. Analysis of chromosome aberration dynamics after flights will allow the determination of individuals with an increased cancerogenese risk and provision of required treatments.

  17. Drug-induced premature chromosome condensation (PCC) protocols: cytogenetic approaches in mitotic chromosome and interphase chromatin.

    Science.gov (United States)

    Gotoh, Eisuke

    2015-01-01

    Chromosome analysis is a fundamental technique which is used in wide areas of cytogenetic study including karyotyping species, hereditary diseases diagnosis, or chromosome biology study. Chromosomes are usually prepared from mitotic cells arrested by colcemid block protocol. However, obtaining mitotic chromosomes is often hampered under several circumstances. As a result, cytogenetic analysis will be sometimes difficult or even impossible in such cases. Premature chromosome condensation (PCC) (see Note 1) is an alternative method that has proved to be a unique and useful way in chromosome analysis. Former, PCC has been achieved following cell fusion method (cell-fusion PCC) mediated either by fusogenic viruses (e.g., Sendai virus) or cell fusion chemicals (e.g., polyethylene glycol), but the cell fusion PCC has several drawbacks. The novel drug-induced PCC using protein phosphatase inhibitors was introduced about 20 years ago. This method is much simpler and easier even than the conventional mitotic chromosome preparation protocol use with colcemid block and furthermore obtained PCC index (equivalent to mitotic index for metaphase chromosome) is usually much higher than colcemid block method. Moreover, this method allows the interphase chromatin to be condensed to visualize like mitotic chromosomes. Therefore drug-induced PCC has opened the way for chromosome analysis not only in metaphase chromosomes but also in interphase chromatin. The drug-induced PCC has thus proven the usefulness in cytogenetics and other cell biology fields. For this second edition version, updated modifications/changes are supplemented in Subheadings 2, 3, and 4, and a new section describing the application of PCC in chromosome science fields is added with citation of updated references.

  18. Position of cytogenetic examination of cosmonauts for the space radiation exposure estimate

    Science.gov (United States)

    Snigiryova, Galina; Novitskaya, Natalia; Fedorenko, Boris

    The cytogenetic monitoring was carried out to evaluate of radiation induced stable and un-stable chromosome aberration frequency in peripheral blood lymphocytes of cosmonauts who participated in flights on Mir Orbital Station and ISS (International Space Station). In the period of 1992 -2008 chromosome aberrations in 202 blood samples from 48 cosmonauts were analyzed using the conventional method. In addition 23 blood samples from 12 cosmonauts were analyzed using FISH (fluorescence in situ hybridization) technique. Whole chromosome painting probes for chromosomes 1, 4 and 12 were used simultaneously with a pancentromeric probe. Samples taken before and after the flights were analyzed. Long-term space flights led to an increase of stable (FISH method) and unstable (conventional method) chromosome aber-ration frequencies. The frequencies of dicentrics and centric rings depend on the space flight duration and accumulated dose value. Extravehicular activity also adds to chromosome aber-ration frequency in blood lymphocytes of cosmonauts. Several years after the space flight the increased level of unstable chromosome aberrations is still apparent. The radiation load was decreased for cosmonauts after taking ISS over from MIR station. The cytogenetic results were in agreement with data of physical dosimetry. The dose interval after the first flight, estimated by the frequency of dicentrics, was 113-227 mSv for long-term flights (73 -199 days) and 53-107 mSv for short-term flights (1 -21 days). According to the frequency of FISH translocations, the average dose after the first long-term flight was 186 mSv, which is comparable with estimates made from the dicentric assay. Cytogenetic examination of cosmonauts, including analysis of dicentrics (conventional method) and translocations (FISH method) should find wider applica-tion to assessment of radiation effects associated with long-term space flights such as flights to Mars.

  19. Prognostic classification of MDS is improved by the inclusion of FISH panel testing with conventional cytogenetics.

    Science.gov (United States)

    Kokate, Prajakta; Dalvi, Rupa; Koppaka, Neeraja; Mandava, Swarna

    2017-10-01

    Cytogenetics is a critical independent prognostic factor in myelodysplastic syndromes (MDS). Conventional cytogenetics (CC) and Fluorescence in situ hybridization (FISH) Panel Testing are extensively used for the prognostic stratification of MDS, although the FISH test is not yet a bona fide component of the International Prognostic Scoring System (IPSS). The present study compares the utility of CC and FISH to detect chromosomal anomalies and in prognostic categorization. GTG-Banding and FISH Panel Testing specifically for -5/-5q, -7/-7q, +8 and -20q was performed on whole blood or bone marrow samples from 136 patients with MDS. Chromosomal anomalies were found in 40 cases by CC, including three novel translocations. FISH identified at least one anomaly in 54/136 (39.7%) cases. More than one anomaly was found in 18/54 (33.3%) cases, therefore, overall FISH identified 75 anomalies of which 32 (42.6%) were undetected by CC. FISH provided additional information in cases with CC failure and in cases with a normal karyotype. Further, in ten cases with an abnormal karyotype, FISH could identify additional anomalies, increasing the number of abnormalities per patient. Although CC is the gold standard in the cytogenetic profiling of MDS, FISH has proven to be an asset in identifying additional abnormalities. The number of anomalies per patient can predict the prognosis in MDS and hence, FISH contributed towards prognostic re-categorization. The FISH Panel testing should be used as an adjunct to CC, irrespective of the adequacy of the number of metaphases in CC, as it improves the prognostic classification of MDS. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Cytogenetic studies in persons, professionally exposed to low doses ionizing radiation

    International Nuclear Information System (INIS)

    Bulanova, M.; Ivanov, B.; Khristova, M.; Praskova, L.; Mikhajlov, M.; Dovev, I.

    1981-01-01

    Cytogenetic techniques were used to examine peripheral lymphocytes taken from 33 subjects employed at the IRT-2000-Sofia Nuclear Reactor and exposed to mixed gamma and neutron radiation in its Zone A. Physical dosimetry data (from pen and film personnel dosimeters) showed the exposures to be below maximum permissible levels, in complience with Radiation Safety Norms in the P.R. of Bulgaria (1972). The subjects were distributed into three groups according to the length of their occupational experience as radiation workers. Comparisons were made with cytogenetic findings in the lymphocyte cultures taken from 30 subjects with no occupational radiation exposure. Radiation workers exhibited a significant increase in chromosomal damage of the chromosome and chromatid type. Subjects with 5-10 years of occupational experience had a higher degree of chromosomal damage than the less-than-5-years group. For persons with more than 10 years of occupational experience, however, no increase over controls could be ascertained in percentage of chromosomal damage. When radiation workers were re-distributed in accord with the exposures received, it was evident that the effect increased with the accumulated dose, the group with about 0.02 Sievert having nearly twice the aberrant cell percentage for the 0.01 Sievert group. In the group of up to 0.05 Sievert, the percentage of aberrant cells was in the order of that observed after exposure to 0.02 Sievert. From the findings in the analysis, radiation quality seemed to play no part in enliciting the cytogenetic response of peripheral lymphocytes. (A.B.)

  1. Chromosomal aberrations in lymphocytes predict human cancer: a report from the European Study Group on Cytogenetic Biomarkers and Health (ESCH)

    DEFF Research Database (Denmark)

    Hagmar, L; Bonassi, S; Strömberg, U

    1998-01-01

    Chromosomal aberrations (CAs), sister chromatid exchanges (SCEs), and micronuclei (MN) in peripheral blood lymphocytes have for decades been used as cytogenetic biomarkers to survey genotoxic risks in the work environment. The conceptual basis for this application has been the idea that increased...... cytogenetic damage reflects an enhanced cancer risk. Nordic and Italian cohorts have been established to evaluate this hypothesis, and analyses presented previously have shown a positive trend between CA frequency and increased cancer risk. We now report on a pooled analysis of updated data for 3541 subjects...... examined for CAs, 2703 for SCEs, and 1496 for MN. To standardize for interlaboratory variation, the results for the various cytogenetic end points were trichotomized on the basis of the absolute value distribution within each laboratory as "low" (1-33 percentile), "medium" (34-66 percentile), or "high" (67...

  2. A comparison of physical and cytogenetic estimates of radiation dose in patients treated with iodine-131 for thyroid carcinoma

    International Nuclear Information System (INIS)

    Lloyd, D.C.; Purrott, R.J.; Dolphin, G.W.; Horton, P.W.; Halnan, K.E.; Scott, J.S.; Mair, G.

    1976-01-01

    Physical and cytogenetic estimates of the whole-body radiation doses have been compared in 11 patients receiving large doses of iodine-131 for the treatment of thyroid carcinoma. The physical estimate was based on the measurement of thyroid uptake, of the plasma activity variation, and of urinary activity. The cytogenetic estimate was obtained from the analysis of chromosome aberrations in peripheral blood lymphocytes. Good agreement between the estimates was observed in patients whose thyroid glands had previously be ablated by radioiodine. In patients who had varying degrees of thyroid function, there were considerable differences between the estimates with the cytogenetic value always being higher. It is suggested that these differences might be due in part to non-uniform irradiation of lymphocytes by local sources of activity in the thyroid and in the liver. (author)

  3. Additional cytogenetic abnormalities and variant t(9;22) at the diagnosis of childhood chronic myeloid leukemia

    DEFF Research Database (Denmark)

    Millot, Frédéric; Dupraz, Christelle; Guilhot, Joelle

    2017-01-01

    BACKGROUND: In the adult population with newly diagnosed chronic myeloid leukemia (CML), variant translocations are usually not considered to be impairing the prognosis, whereas some additional cytogenetic abnormalities (ACAs) are associated with a negative impact on survival. Because of the rarity...... for Chronic Myeloid Leukemia in Children and Adolescents. RESULTS: Overall, 19 children (6.3%) presented with additional cytogenetic findings at diagnosis: 5 children (1.7%) had a variant t(9;22) translocation, 13 children (4.3%) had ACAs, and 1 had both. At 3 years, for children with a classic translocation...... survival (OS) was 98% (95% CI, 95%-100%), 100% (95% CI, 43%-98%), and 75% (95% CI, 13%-96%), respectively. No statistical difference was observed between the patients with classic cytogenetic findings and those with additional chromosomal abnormalities in terms of PFS and OS. CONCLUSIONS: In contrast...

  4. Chromosome abnormalities in colorectal adenomas: two cytogenetic subgroups characterized by deletion of 1p and numerical aberrations

    DEFF Research Database (Denmark)

    Bomme, L; Bardi, G; Pandis, N

    1996-01-01

    Cytogenetic analysis of short-term cultures from 34 benign colorectal polyps, all histologically verified as adenomas, revealed clonal chromosome aberrations in 21 of them. Eight polyps had structural rearrangements, whereas only numerical changes were found in 13. A combination of structural...... and another with a small 1p deletion. In three adenomas, del(1)(p36) was the only cytogenetic aberration, supporting the authors' previous conclusion that loss of one or more gene loci in band 1p36 is a common early change in colorectal tumorigenesis. Chromosome 8 was involved in structural changes in two...... adenomas; in one this led to loss of 8p and in the other to gain of 8q. The cytogenetic findings did not correlate in a statistically significant manner with clinicopathologic parameters, such as grade of dysplasia, macroscopic or microscopic adenoma structure, tumor size and location, or the patients' sex...

  5. Cytogenetic effects of aqueous extracts of the medicinal plant paico (chenopodium multifidum L.).

    Science.gov (United States)

    Gadano, A; Gurni, A; Nigro López, M; López, P; Gratti, A; van Baren, C; Ferraro, G; Carballo, M

    2000-01-01

    The cytogenetic effects of aqueous extracts of Chenopodium multifidum L. (Paico) were determined by addition of the extracts and fractions to human lymphocyte cultures. Toxicity was evaluated by analysis of chromosomal aberrations (CA), sister chromatid exchange (SCE), mitotic (MI) and replication (RI) indexes. The results showed an increase in CA frequency in cultures exposed to infusion decoction, no modification in the CPK values either in the decoction or in the infusion, and a decrease in the MI of lymphocyte cultures exposed to the decoction. These results suggested genotoxic effects of "Paico" aqueous extracts.

  6. Cytogenetic analysis and response to ionizing radiations in a girl with severe muscular dystrophy

    International Nuclear Information System (INIS)

    Meola, G.; Barsi, L.; Velicogna, M.; Scarlato, G.; Fuhrman-Conti, A.M.

    1988-01-01

    Duchenne Muscular Dystrophy (DMD) is a severe X-linked condition characterized by a progressive degeneration of skeletal muscle. Mild clinical symptoms have been reported in female carriers of the DMD gene with normal karyotypes, this occurs in about 8% of DMD carriers. The degree of manifestation ranges from pseudohypertrophy of the calf muscles to moderate myopathy with proximal muscle wasting and weakness. Such manifestations can be explained on the basis of preferential inactivation of the X chromosome bearing the normal allele. The authors describe the cytogenetic analysis and the response to ionizing radiations in a severely affected girl exhibiting clinical, neurophysiological, biochemical, and histological findings of DMD

  7. Cytogenetic studies in femalie X-ray assistants with menstrual disturbances

    International Nuclear Information System (INIS)

    Marinova, G.; Dimcheva, M.; Kincheva, V.

    1976-01-01

    Cytogenetic analyses were performed in thirty, otherwise genitally and extragenitally unaffected, female X-ray assistants with menstrual disturbances (oligomenorrhea, secondary amenorrhea, irregular bleedings, hypermenorrhea) developing in the course of occupational experience under intermittent, chronic, low-level exposure conditions, the dose accumulated remaining below the maximum permissible dose. Seventeen of these subjects showed changes in chromosome constitution, namely: aneuploidy, up to 34,2%; breaks, 2 - 14,3%; gaps, 5,6 - 16,7;; and dicentrics, in one case, 2,8%. Increase in occupational experience was found to be associated with increase in percentage of menstrual disturbances and in chromosome aberrations. (author)

  8. Cytogenetic damage and postradiation restoration of eye cornea epithelium of Rodentia characterizing by different radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Popova, M.F.; Bulyakova, N.V. (AN SSSR, Moscow. Inst. Ehvolyutsionnoj Morfologii i Ehkologii Zhivotnykh)

    1983-01-01

    Intensity of beam damage and reparation of eye cornea epithelium of animals inhabiting under different conditions and differing by radiosensitivity has been studied. Mice differing by high radiosensitivity have the hardest cytogenetic damage. Cornea epithelium of bank voles is more radiostable than that of mice. The most negligible damages of cornea epithelium is observed in Mongolian sandwort despite the fact that their total radiation stability is lower than that of bank voles. High protective-restoring properties of eye cornea epithelium of Mongolian sandwort are explained by the structure of epithelium cells differing by a large number of cytoplasm.

  9. Cytogenetic findings 30 years after low level exposure to the Nagasaki atom bomb

    International Nuclear Information System (INIS)

    Chee, C.A.K.; Ilbery, P.L.T.

    1977-01-01

    Chromosome aberrations in the peripheral blood lymphocytes were studied in seventeen Australian former prisoners of war who had been exposed to about 50 rads whole body radiation thirty years previously at Nagasaki. Only three yielded individual discernible evidence of remaining radiation damage to the chromosomes of their lymphocytes. In comparing the cytogenetic findings in this exposed group with other Australians at Nagasaki who were not exposed distinction was not possible between the groups using the criterion of dicentrics/cell. However, distinction could be made on a hits/cell basis. (auth.)

  10. First cytogenetic information for Drymoreomys albimaculatus (Rodentia, Cricetidae, a recently described genus from Brazilian Atlantic Forest

    Directory of Open Access Journals (Sweden)

    Elkin Suárez-Villota

    2013-05-01

    Full Text Available The recently described taxon Drymoreomys albimaculatus is endemic to the Brazilian Atlantic Forest and its biology and genetics are still poorly known. Herein, we present, for the first time, the karyotype of the species using classical and molecular cytogenetics, which showed 2n=62, FN=62, and interstitial telomeric signals at the sex chromosomes. Nuclear and mitochondrial DNA sequences from the two karyotyped individuals verify the taxonomic identity as the recently described D. albimaculatus and confirm the relationship of the species with other Oryzomyini. Additionally, external morphological information is provided.

  11. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish country

    Energy Technology Data Exchange (ETDEWEB)

    Petersen, M.B.; Brondum-Nielsen, K.; Hansen, L.K.; Wulff, K.

    1995-06-19

    Angelman syndrome (AS) was initially considered a rather rare abnormality, but in later years, with the possibilities for cytogenetic and molecular diagnosis an increasing number of patients have been reported. The incidence is quoted to be around 1:20,000. The etiology of AS is associated with the lack of maternal allele(s) of one or more loci at 15q11-q13, and is considered an effect of parental imprinting of that region, since a similar deficiency of paternal alleles leads to Prader-Willi syndrome. 9 refs., 1 tab.

  12. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

    OpenAIRE

    Greenberg, F; Elder, F F; Haffner, P; Northrup, H; Ledbetter, D H

    1988-01-01

    High-resolution cytogenetics analysis of peripheral blood lymphocytes was done prospectively on 27 of 28 patients with features of DiGeorge anomaly. Twenty-two patients (81%) had normal chromosome studies with no detectable deletion in chromosome 22. Five patients (18%) had demonstrable chromosome abnormalities. Three patients had monosomy 22q11, one due to a 4q;22q translocation, one due to a 20q;22q translocation, and one due to an interstitial deletion of 22q11. One patient had monosomy 10...

  13. Male cytogenetic evaluation prior to assisted reproduction procedures performed in Mar del Plata, Argentina.

    Science.gov (United States)

    Poli, María N; Miranda, Lucía A López; Gil, Eduardo Daniel; Zanier, Germán Justo; Iriarte, Pedro Fernández; Zanier, Justo H Mario; Coco, Roberto

    2016-05-01

    This paper aimed to estimate the frequency of occurrence and the types of chromosomal abnormalities found in 141 infertile men with abnormal semen parameters. the frequency and type of chromosomal abnormalities were determined with male mitotic karyotype analysis from peripheral blood through chromosome banding techniques before assisted reproduction procedures. In this series of 141 infertile men, 19 (13%) had chromosomal anomalies and 35 (25%) had polymorphic variants. The main chromosome abnormalities were reciprocal translocations and marker chromosomes in mosaic. These results stress the relevance of cytogenetic studies for infertile males as a diagnostic tool and a valuable input in genetic counseling.

  14. No short-term cytogenetic consequences of Hungarian red mud catastrophe.

    Science.gov (United States)

    Gundy, Sarolta; Farkas, Gyöngyi; Székely, Gábor; Kásler, Miklós

    2013-01-01

    Red mud is an industrial waste produced in the process of alumina extraction from bauxite with concentrated NaOH. When the red mud-containing reservoir collapsed in Ajka Alumina Plant Hungary in October 2010, the most serious immediate effects were caused by the high alkalinity (pH ≥ 13) of the flood. Many persons suffered burn-like damage to tissues and contact with caustic desiccated ultra-fine dust with traces of toxic metals also caused irritation of upper respiratory tract and eyes. This catastrophe was unique from the point of view of genotoxic effects as well. Therefore cytogenetic examinations were carried out on inhabitants, either with burns (17 persons) or on those inhaling desiccated caustic dust (42 persons). Chromosomal aberration (CA) analysis and bleomycin (BLM)-sensitivity assays, as possible markers of effects, were studied in peripheral blood lymphocytes of persons within 4-6 weeks following the catastrophe. Controls were matched for age, sex and smoking habits, and also places of residence with different constituents of air pollution either from rural (59 persons), or from urban environments (59 persons). Neither spontaneous rate of CAs (1.47% vs. 1.69%) nor BLM-induced in vitro chromosomal breakage (0.79 vs. 0.83 break/cell) showed elevated rates when cytogenetic biomarkers of genotoxicity were compared between controls and exposed persons. Time spent in cleaning did not affect cytogenetic changes either (R(2) = 0.04). BLM-induced mutagen sensitivity was similar in exposed and control persons (27.1% vs. 30.5%). It seems that the red mud exposure does not appear to pose an immediate genotoxic hazard on residents when measured with cytogenetic methods. We recommend, however, that those involved in clean-up activities should be followed closely not only for overall health, but also for further genotoxic risk assessment, because the long-term hazards of ultra-fine fugitive dust particles with alkalinity of residual NaOH in red mud are still

  15. Cytogenetic studies in green mussel, Perna viridis (Mytiloida: Pteriomorphia), from West Coast of India

    Digital Repository Service at National Institute of Oceanography (India)

    Iqbal, A.N.M.Z.; Khan, M.S.; Goswami, U.

    ) Chromosome number and karyotype of Donax trunculus L. (Mollusca, Bivalvia, Tellinacea). Genetica 82(2):93–97 Cross I, Dı´az E, Sa´nchez I, Rebordinos L (2005) Molecular and cytogenetic characterization of Crassostrea angulata chromo- somes. Aquaculture 247... maximus and Mimachlamys varia (Bivalvia: Pectinidae). Genetica 126(3):291–301 Justo CC, Murofushi, Maida K, Hanyu I (1991) Karyological studies on the freshwater prawn Macrobrachium rosenbergii. Aquacul- ture 97:327–334 Levan A, Fredga K, Sandberg AA (1964...

  16. Clinical, hematological, and cytogenetic profile of adult myelodysplastic syndrome in a tertiary care center

    Directory of Open Access Journals (Sweden)

    Narayanan S

    2017-02-01

    Full Text Available Santhosh Narayanan Department of Medicine, Government Medical College, Kozhikode, Kerala, India Background: Myelodysplastic syndrome (MDS, a disorder of clonal hematopoiesis, is an important clinical entity, but most of the studies available are conducted among the Western population. Its etiological factors and clinicohematological profile in the Indian population are quite diverse. The information regarding its prognostic factors and cytogenetics is very scarce.Objectives: (1 To assess the clinicohematological profile, cytogenetics, prognostic factors, and outcome of MDS and (2 to study its progression to acute myeloid leukemia (AML in the selected patients over the study period.Methods: A prospective observational study was performed with patients from Department of Medicine and Hematology, Government Medical College, Kozhikode, who were diagnosed with MDS within the study period (from 1 January 2014 to 31 July 2015. Secondary causes of dysplasia were excluded. In possible cases, the international prognostic scoring system was followed. These patients were followed up for an additional 6 months to assess the progression of MDS to AML based on symptoms, signs, hemogram, or repeat peripheral smear/bone marrow studies.Results: Of the 60 patients, 73% were aged >60 years. Disease was common in males, with a male:female ratio of 7:3. Thirty-five percent of the patients were working in agricultural and allied fields and had pesticide exposure. Patients with prior radiation exposure had significant association with adverse outcome. Fatigue was the prominent symptom and was reported by 90% of the patients. Blasts were >5% in peripheral smear; bone marrow cytopenia and dysplasia at the time of diagnosis had significant association with risk of transforming to AML. Refractory anemia (RA, observed in 22 patients, was the most common type of MDS. Most of the patients with RA with excess blasts type-1 and RA with excess blasts type-2 transformed to AML

  17. The NPM1 mutation type has no impact on survival in cytogenetically normal AML.

    Directory of Open Access Journals (Sweden)

    Friederike Pastore

    Full Text Available NPM1 mutations represent frequent genetic alterations in patients with acute myeloid leukemia (AML associated with a favorable prognosis. Different types of NPM1 mutations have been described. The purpose of our study was to evaluate the relevance of different NPM1 mutation types with regard to clinical outcome. Our analyses were based on 349 NPM1-mutated AML patients treated in the AMLCG99 trial. Complete remission rates, overall survival and relapse-free survival were not significantly different between patients with NPM1 type A or rare type mutations. The NPM1 mutation type does not seem to play a role in risk stratification of cytogenetically normal AML.

  18. Cytogenetic Alterations in Multiple Myeloma: Prognostic Significance and the Choice of Frontline Therapy.

    Science.gov (United States)

    Stella, Flavia; Pedrazzini, Estela; Agazzoni, Mara; Ballester, Oscar; Slavutsky, Irma

    2015-01-01

    Multiple myeloma tumor cells demonstrate multiple and often complex genetic lesions as evaluated by standard cytogenetic/FISH studies. Over the past decade, specific abnormalities have been associated with standard or high-risk clinical behavior and they have become strong prognostic indicators. Further, as evidenced by recent randomized clinical trials, the choice of front-line therapy (transplant vs. no transplant, inclusion of novel drugs such as bortezomib, thalidomide, and lenalidomide) may be able to overcome the adverse effect of high-risk genetic lesions.

  19. [Molecular cytogenetic analysis of a case with ring chromosome 3 syndrome].

    Science.gov (United States)

    Zhang, Kaihui; Song, Fengling; Zhang, Dongdong; Zhang, Haiyan; Wang, Ying; Dong, Rui; Zhang, Yufeng; Liu, Yi; Gai, Zhongtao

    2016-12-10

    To investigate the genetic cause for a child with developmental delay and congenital heart disease through molecular cytogenetic analysis. G-banded karyotyping and chromosomal microarray analysis (CMA) were performed for the patient and his parents. The proband's karyotype was detected as ring chromosome 3, and a 3q26.3-25.3 deletion encompassing 45 genes has been found with CMA. Testing of both parents was normal. Clinical phenotype of the patient with ring chromosome 3 mainly depends on the involved genes. It is necessary to combine CMA and karyotyping for the diagnosis of ring chromosome, as CMA can provide more accurate information for variations of the genome.

  20. Cytogenetic damages induced in vivo in human lymphocytes by environmental chemicals or radiation

    International Nuclear Information System (INIS)

    Cebulska-Wasilewska, A.

    1999-01-01

    The importance of various environmental exposures has been evident in variation in cancer incidence and mortality. Benzene is considered to be a human carcinogen, is clastogenic to rodents and humans, and it affects the immune response. Workers in various industrial plants, are exposed to benzene and benzene related compounds as a result of various activities in which benzene is processed, generated or used. Major sources of environmental exposure to benzene related compounds, continue to be active and passive smoking, auto exhaust, and driving or riding in automobiles. Benzene is of a particular interest, not only because of its known toxicity, but also because this was to be the parent compound and a model for extensive programs of metabolism of a variety of aromatic chemicals. Ionizing radiation is an unavoidable physical agent that is presented in environment, and public opinion is well aware against radiation risk and strongly against it. The aim of the presentation was comparison between cytogenetic damages induced in vivo by environmental chemicals with those of radiation. Results from biomonitoring survey on genotoxicity in human blood cells of benzene and benzene related compounds were compared to damages detected in lymphocytes of persons who had been accidentally exposed to gamma radiation. In the groups, that had been occupationally or environmentally exposed to benzene related compound, total aberration frequencies, or percent of aberrant cells ranged between 0 - 0.16 aberrations/cell or 16% of aberrant cells respectively. A multivariate regression analysis confirmed: (i) a significant association between cytogenetic damage and exposure to benzene related compound, (ii) a possible association between cytogenetic damage and cancer, (iii) a significant influence of smoking habit. In 1996 few persons were suspected of accidental exposure to gamma radiation. To estimate the absorbed doses, lymphocytes from their blood have been analyzed for the presence of

  1. Cytogenetic characteristics of children who suffered as a result of the Chernobyl power plant accident

    International Nuclear Information System (INIS)

    Vorobtsova, I.E.; Kolyubaeva, S.N.; Vorob'eva, M.V.; Korotkov, D.V.; Komar, V.E.

    1993-01-01

    Cytogenetic examinations of children living in the St. Peterburg district who suffered as a result of the Chernobyl power plant accident (liquidators' children and children evacuated from radioactive pollution areas) and of control children were carried out. The chromosomal system stability was assessed by several parameters: spontaneous levels of chromosomal radiosensitivity in in vitro irradiation of lymphocytes in dose 1.5 Gy of 60 Co γ-irradiation. Children with an increased incidence of chromosomal aberrations and an increased chromosomal radiosensitivity were referred to a risk group

  2. Automated campaign system

    Science.gov (United States)

    Vondran, Gary; Chao, Hui; Lin, Xiaofan; Beyer, Dirk; Joshi, Parag; Atkins, Brian; Obrador, Pere

    2006-02-01

    To run a targeted campaign involves coordination and management across numerous organizations and complex process flows. Everything from market analytics on customer databases, acquiring content and images, composing the materials, meeting the sponsoring enterprise brand standards, driving through production and fulfillment, and evaluating results; all processes are currently performed by experienced highly trained staff. Presented is a developed solution that not only brings together technologies that automate each process, but also automates the entire flow so that a novice user could easily run a successful campaign from their desktop. This paper presents the technologies, structure, and process flows used to bring this system together. Highlighted will be how the complexity of running a targeted campaign is hidden from the user through technologies, all while providing the benefits of a professionally managed campaign.

  3. Rapid automated nuclear chemistry

    International Nuclear Information System (INIS)

    Meyer, R.A.

    1979-01-01

    Rapid Automated Nuclear Chemistry (RANC) can be thought of as the Z-separation of Neutron-rich Isotopes by Automated Methods. The range of RANC studies of fission and its products is large. In a sense, the studies can be categorized into various energy ranges from the highest where the fission process and particle emission are considered, to low energies where nuclear dynamics are being explored. This paper presents a table which gives examples of current research using RANC on fission and fission products. The remainder of this text is divided into three parts. The first contains a discussion of the chemical methods available for the fission product elements, the second describes the major techniques, and in the last section, examples of recent results are discussed as illustrations of the use of RANC

  4. ATLAS Distributed Computing Automation

    CERN Document Server

    Schovancova, J; The ATLAS collaboration; Borrego, C; Campana, S; Di Girolamo, A; Elmsheuser, J; Hejbal, J; Kouba, T; Legger, F; Magradze, E; Medrano Llamas, R; Negri, G; Rinaldi, L; Sciacca, G; Serfon, C; Van Der Ster, D C

    2012-01-01

    The ATLAS Experiment benefits from computing resources distributed worldwide at more than 100 WLCG sites. The ATLAS Grid sites provide over 100k CPU job slots, over 100 PB of storage space on disk or tape. Monitoring of status of such a complex infrastructure is essential. The ATLAS Grid infrastructure is monitored 24/7 by two teams of shifters distributed world-wide, by the ATLAS Distributed Computing experts, and by site administrators. In this paper we summarize automation efforts performed within the ATLAS Distributed Computing team in order to reduce manpower costs and improve the reliability of the system. Different aspects of the automation process are described: from the ATLAS Grid site topology provided by the ATLAS Grid Information System, via automatic site testing by the HammerCloud, to automatic exclusion from production or analysis activities.

  5. Automated Assembly Center (AAC)

    Science.gov (United States)

    Stauffer, Robert J.

    1993-01-01

    The objectives of this project are as follows: to integrate advanced assembly and assembly support technology under a comprehensive architecture; to implement automated assembly technologies in the production of high-visibility DOD weapon systems; and to document the improved cost, quality, and lead time. This will enhance the production of DOD weapon systems by utilizing the latest commercially available technologies combined into a flexible system that will be able to readily incorporate new technologies as they emerge. Automated assembly encompasses the following areas: product data, process planning, information management policies and framework, three schema architecture, open systems communications, intelligent robots, flexible multi-ability end effectors, knowledge-based/expert systems, intelligent workstations, intelligent sensor systems, and PDES/PDDI data standards.

  6. Automated drawing generation system

    International Nuclear Information System (INIS)

    Yoshinaga, Toshiaki; Kawahata, Junichi; Yoshida, Naoto; Ono, Satoru

    1991-01-01

    Since automated CAD drawing generation systems still require human intervention, improvements were focussed on an interactive processing section (data input and correcting operation) which necessitates a vast amount of work. As a result, human intervention was eliminated, the original objective of a computerized system. This is the first step taken towards complete automation. The effects of development and commercialization of the system are as described below. (1) The interactive processing time required for generating drawings was improved. It was determined that introduction of the CAD system has reduced the time required for generating drawings. (2) The difference in skills between workers preparing drawings has been eliminated and the quality of drawings has been made uniform. (3) The extent of knowledge and experience demanded of workers has been reduced. (author)

  7. Automated fingerprint identification system

    International Nuclear Information System (INIS)

    Bukhari, U.A.; Sheikh, N.M.; Khan, U.I.; Mahmood, N.; Aslam, M.

    2002-01-01

    In this paper we present selected stages of an automated fingerprint identification system. The software for the system is developed employing algorithm for two-tone conversion, thinning, feature extraction and matching. Keeping FBI standards into account, it has been assured that no details of the image are lost in the comparison process. We have deployed a general parallel thinning algorithm for specialized images like fingerprints and modified the original algorithm after a series of experimentation selecting the one giving the best results. We also proposed an application-based approach for designing automated fingerprint identification systems keeping in view systems requirements. We will show that by using our system, the precision and efficiency of current fingerprint matching techniques are increased. (author)

  8. Automated breeder fuel fabrication

    International Nuclear Information System (INIS)

    Goldmann, L.H.; Frederickson, J.R.

    1983-01-01

    The objective of the Secure Automated Fabrication (SAF) Project is to develop remotely operated equipment for the processing and manufacturing of breeder reactor fuel pins. The SAF line will be installed in the Fuels and Materials Examination Facility (FMEF). The FMEF is presently under construction at the Department of Energy's (DOE) Hanford site near Richland, Washington, and is operated by the Westinghouse Hanford Company (WHC). The fabrication and support systems of the SAF line are designed for computer-controlled operation from a centralized control room. Remote and automated fuel fabriction operations will result in: reduced radiation exposure to workers; enhanced safeguards; improved product quality; near real-time accountability, and increased productivity. The present schedule calls for installation of SAF line equipment in the FMEF beginning in 1984, with qualifying runs starting in 1986 and production commencing in 1987. 5 figures

  9. Automated Instrumentation System Verification.

    Science.gov (United States)

    1983-04-01

    fUig JDma Entered) i. _-_J I ___________ UNCLASSI FI ED SECURITY CLASSIFICATION OF TIHIS PAGE(II7,m Daca Entod) 20. ABSTRACT (Continued). ) contain...automatic measurement should arise. 15 I "_......_______.....____,_.........____ _ ’ " AFWL-TR-82-137 11. TRADITIONAL PROCEDURES The necessity to measure data...measurement (Ref. 8). Finally, when the necessity for automation was recognized and funds were provided, the effort described in this report was started

  10. Cavendish Balance Automation

    Science.gov (United States)

    Thompson, Bryan

    2000-01-01

    This is the final report for a project carried out to modify a manual commercial Cavendish Balance for automated use in cryostat. The scope of this project was to modify an off-the-shelf manually operated Cavendish Balance to allow for automated operation for periods of hours or days in cryostat. The purpose of this modification was to allow the balance to be used in the study of effects of superconducting materials on the local gravitational field strength to determine if the strength of gravitational fields can be reduced. A Cavendish Balance was chosen because it is a fairly simple piece of equipment for measuring gravity, one the least accurately known and least understood physical constants. The principle activities that occurred under this purchase order were: (1) All the components necessary to hold and automate the Cavendish Balance in a cryostat were designed. Engineering drawings were made of custom parts to be fabricated, other off-the-shelf parts were procured; (2) Software was written in LabView to control the automation process via a stepper motor controller and stepper motor, and to collect data from the balance during testing; (3)Software was written to take the data collected from the Cavendish Balance and reduce it to give a value for the gravitational constant; (4) The components of the system were assembled and fitted to a cryostat. Also the LabView hardware including the control computer, stepper motor driver, data collection boards, and necessary cabling were assembled; and (5) The system was operated for a number of periods, data collected, and reduced to give an average value for the gravitational constant.

  11. Autonomy, Automation, and Systems

    Science.gov (United States)

    Turner, Philip R.

    1987-02-01

    Aerospace industry interest in autonomy and automation, given fresh impetus by the national goal of establishing a Space Station, is becoming a major item of research and technology development. The promise of new technology arising from research in Artificial Intelligence (AI) has focused much attention on its potential in autonomy and automation. These technologies can improve performance in autonomous control functions that involve planning, scheduling, and fault diagnosis of complex systems. There are, however, many aspects of system and subsystem design in an autonomous system that impact AI applications, but do not directly involve AI technology. Development of a system control architecture, establishment of an operating system within the design, providing command and sensory data collection features appropriate to automated operation, and the use of design analysis tools to support system engineering are specific examples of major design issues. Aspects such as these must also receive attention and technology development support if we are to implement complex autonomous systems within the realistic limitations of mass, power, cost, and available flight-qualified technology that are all-important to a flight project.

  12. Automation in biological crystallization.

    Science.gov (United States)

    Stewart, Patrick Shaw; Mueller-Dieckmann, Jochen

    2014-06-01

    Crystallization remains the bottleneck in the crystallographic process leading from a gene to a three-dimensional model of the encoded protein or RNA. Automation of the individual steps of a crystallization experiment, from the preparation of crystallization cocktails for initial or optimization screens to the imaging of the experiments, has been the response to address this issue. Today, large high-throughput crystallization facilities, many of them open to the general user community, are capable of setting up thousands of crystallization trials per day. It is thus possible to test multiple constructs of each target for their ability to form crystals on a production-line basis. This has improved success rates and made crystallization much more convenient. High-throughput crystallization, however, cannot relieve users of the task of producing samples of high quality. Moreover, the time gained from eliminating manual preparations must now be invested in the careful evaluation of the increased number of experiments. The latter requires a sophisticated data and laboratory information-management system. A review of the current state of automation at the individual steps of crystallization with specific attention to the automation of optimization is given.

  13. Contributions to cytogenetics of Plectranthus barbatus Andr. (Lamiaceae: a medicinal plant

    Directory of Open Access Journals (Sweden)

    Aryane Campos Reis

    2015-07-01

    Full Text Available Accessions of Plectranthus barbatus (Lamiaceae, a medicinal plant, were investigated using a cytogenetic approach and flow cytometry (FCM. Here, we describe for the first time details of the karyotype including chromosome morphology, physical mapping of GC rich bands (CMA3 banding, as well as the mapping of 45S and 5S rDNA sites. All accessions studied showed karyotypes with 2n = 30 small metacentric and submetacentric chromosomes. The CMA3 banding and fluorescent in situ hybridization techniques revealed coincidence between CMA3 bands and 45S rDNA sites (6 terminal marks while for the 5S rDNA were observed 4 subterminal marks no coincident with CMA3 marks. For nuclear genome size measurement, the FCM procedure provided histograms with G0/G1 peaks exhibiting CV between 2.0–4.9 and the mean values obtained for the species was 2C = 2.78 pg, with AT% = 61.08 and GC% = 38.92. The cytogenetic data obtained here present new and important information which enables the characterization of P. barbatus.

  14. Contributions to cytogenetics of Plectranthus barbatus Andr. (Lamiaceae): a medicinal plant

    Science.gov (United States)

    Reis, Aryane Campos; Viccini, Lyderson Facio; de Sousa, Saulo Marçal

    2015-01-01

    Abstract Accessions of Plectranthus barbatus (Lamiaceae), a medicinal plant, were investigated using a cytogenetic approach and flow cytometry (FCM). Here, we describe for the first time details of the karyotype including chromosome morphology, physical mapping of GC rich bands (CMA3 banding), as well as the mapping of 45S and 5S rDNA sites. All accessions studied showed karyotypes with 2n = 30 small metacentric and submetacentric chromosomes. The CMA3 banding and fluorescent in situ hybridization techniques revealed coincidence between CMA3 bands and 45S rDNA sites (6 terminal marks) while for the 5S rDNA were observed 4 subterminal marks no coincident with CMA3 marks. For nuclear genome size measurement, the FCM procedure provided histograms with G0/G1 peaks exhibiting CV between 2.0–4.9 and the mean values obtained for the species was 2C = 2.78 pg, with AT% = 61.08 and GC% = 38.92. The cytogenetic data obtained here present new and important information which enables the characterization of Plectranthus barbatus. PMID:26312133

  15. Cytogenetic diversity of simple sequences repeats in morphotypes of Brassica rapa ssp. chinensis

    Directory of Open Access Journals (Sweden)

    Jinshuang Zheng

    2016-07-01

    Full Text Available A significant fraction of the nuclear DNA of all eukaryotes is occupied by simple sequence repeats (SSRs. Although thesis sequences have sparked great interest as a means of studying genetic variation, linkage mapping and evolution, little attention had been paid to the chromosomal distribution and cytogenetic diversity of these sequences. This paper report the long-range organization of all possible classes of mono-, di- and tri-nucleotide SSRs in Brassica rapa. Fluorescence in situ hybridization (FISH was used to characterize the cytogenetic diversity of SSRs among morphotypes of B. rapa ssp. chinensis. The proportion of different SSR motifs varied among morphtypes of B. rapa, with trinucleotide SSRs more prevalent in the genome of B. rapa ssp. chinensis. The chromosomal characterizations of mono-, di- and tri-nucleotide repeats have been acquired. The data has revealed the non-random and motif-dependent chromosome distribution of SSRs in different morphtypes, and allowed the relative variability characterized by SSRs amount and similar chromosomal distribution in centromeric/peri-centromeric heterochromatin. The differences of SSRs in the abundance and distribution indicated the driving force of SSRs in relationship with the evolution of B. rapa species. The results provided a comprehensive view on the SSR sequence distribution and evolution for comparison among morphtypes B. rapa ssp. chinensis.

  16. Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.

    Science.gov (United States)

    Bertini, Veronica; Ghirri, Paolo; Bicocchi, Maria Patrizia; Simi, Paolo; Valetto, Angelo

    2010-08-01

    To characterize the breakpoints of a t(X;15) found in a woman with premature ovarian failure (POF). Case report. Molecular and cytogenetics unit in a university-affiliated hospital. A 19-year-old infertile woman presenting with a normal female phenotype but primary amenorrhea. Molecular cytogenetic analyses and genetic counseling. Translocation t(X;15) defined by fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (array CGH). Chromosome and FISH analysis revealed 46,XX, t(X;15)(Xq22.1;p11); the active X was translocated and had been inherited from her mother. Detailed molecular characterization by FISH showed that the NXF5 (nuclear RNA export factor 5) gene was contained in the clone spanning the breakpoint on the X chromosome. The NXF5 gene is an appealing candidate for POF because it shows functional homology with the FMR1 (fragile X mental retardation 1) gene. Further analyses of its expression as well as mutation screening in other POF patients will help to elucidate its role. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  17. Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies (Chinese Edition)

    International Nuclear Information System (INIS)

    2015-01-01

    Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade

  18. Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies (Arabic Edition)

    International Nuclear Information System (INIS)

    2014-01-01

    Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade

  19. Cytogenetics of Aspidogaster limacoides (Trematoda, Aspidogastrea): karyotype, spermatocyte division, and genome size.

    Science.gov (United States)

    Bombarová, Marta; Špakulová, Marta; Kello, Martin; Nguyen, Petr; Bazsalovicsová, Eva; Králová-Hromadová, Ivica

    2015-04-01

    A detailed cytogenetic analysis of the aspidogastrean fluke Aspidogaster limacoides revealed a karyotype consisting of six medium-sized chromosome pairs. The first and the last pairs were two-armed while four remaining were one-armed; 2n = 12, n = 1 m + 1 m - sm + 4a. Fluorescence in situ hybridization with 18S ribosomal DNA (rDNA) probe detected a single cluster of ribosomal genes (NOR) located in pericentromeric regions of the long arms of the third chromosome pair in a site of secondary constriction apparent in meiotic prophase, especially in diplotene. The silver nitrate staining showed only a single active NOR site on one of homologous chromosomes in the majority of spermatogonia and spermatocyte divisions. A course of meiosis corresponded to standard schemes. The nucleolus was apparent in early meiotic spermatocytes and disintegrated by the end of pachytene. For the first time in Aspidogastrea, the genome size was determined. The flow cytometry showed 1.21 pg DNA per haploid nucleus in A. limacoides which is in accordance with relatively low genome sizes of other flukes and tapeworms (Neodermata). A comparison of cytogenetic data available to date in the fluke sister groups Aspidogastrea and Digenea suggests that the lower chromosome number of Aspidogastrea might represent an ancestral condition and their split might have been accompanied by an increase in chromosome number via either chromosome fissions or paleopolyploidy.

  20. Cytogenetic analysis of uveal melanoma. Consistent occurrence of monosomy 3 and trisomy 8q.

    Science.gov (United States)

    Horsman, D E; White, V A

    1993-02-01

    The genetic alterations associated with the pathogenesis of uveal melanoma have not been determined. To address this issue, the authors performed a prospective cytogenetic study of 35 uveal melanomas, including 23 primary untreated tumors and 12 tumors that were removed after local radiation therapy. Representative tumor tissue was processed by established methods for histopathologic and cytogenetic studies. Tumor cells were disaggregated and established in short-term culture; metaphases were prepared by standard methods for karyotypic analysis. Successful analyses were achieved in 27 of the tumor specimens, including 20 of 23 tumors not exposed to radiation and 7 of 12 tumors exposed to radiation. All of the tumors had an abnormal karyotype. Recurrent chromosomal abnormalities detected in the tumors not exposed to radiation included monosomy 3 (13 of 20), trisomy 8 or 8q (11 of 20), loss of a sex chromosome (10 of 20), and loss of 6q (8 of 20). The tumors previously exposed to radiation were characterized by more complex changes, with monosomy 3 and trisomy 8q detected in three cases each. Uveal melanoma is characterized by monosomy 3 and trisomy 8q in most cases. These findings, which are supported by data from other investigators, provide compelling evidence that loss of gene sequences on chromosome 3 and duplication of gene sequences on chromosome 8 are implicated in the genetic alterations associated with uveal melanoma and offer a basis for additional molecular genetic investigations.

  1. Cytogenetic findings on shoe workers exposed long-term to benzene.

    Science.gov (United States)

    Tunca, B T; Egeli, U

    1996-12-01

    Cytogenetic analysis of peripheral blood lymphocytes was performed to detect cytogenetical alterations in 58 shoe workers (57 male and 1 female) who had been exposed to particular mutagenic or carcinogenic agents and in 20 subjects selected from the general population as a control group. Frequencies of damaged cells, including gaps, breaks, and rearrangements (acentric fragment, deletion, translocations) were scored for both groups. The incidence of chromosomal aberrations (particularly chromatid gaps and breaks) in the study group was significantly higher than in the control group. No effects of smoking were observed and breaks alone were found to be influenced by alcohol consumption. No significant correlation was detected between the working period in the group exposed to benzene and frequency of chromosomal aberrations. Benzene content was determined to be between 0 and 28.5% in eight kinds of glues studied by fractional distillation. Hexane content ranged between 0 and 68.35% using the same method. This study indicated that the content of benzene and hexane in the glues are above normal limits.

  2. Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies

    International Nuclear Information System (INIS)

    2011-01-01

    Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade.

  3. Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies (French Edition)

    International Nuclear Information System (INIS)

    2013-01-01

    Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade

  4. Results of cytogenetic surveillance of rural populations adjoining to Semipalatinsk test site

    International Nuclear Information System (INIS)

    Abdil'dinova, G.Zh.; Kundakbaeva, G.B.; Zhunusova, A.B.

    1997-01-01

    Purpose of the work is study of somatic cytogenetic effects with taking into consideration chromosomal aberration of population from Beskaragaj district of Semipalatinsk region exposed to influence of conducted nuclear tests on Semipalatinsk test site. Cultures of lymphocyates of peripheral flood were studied. Control group made up 15 man living in Akmola region locating out of radiation contaminated zone. It is determined, that common frequency of chromosomal aberration make up 3.6 on 100 cells. At that frequency of pair fragments made up 2.0 on 100 metaphases (0.2 in control group); dicentrics and center rings were revealed with summary frequency 0.6 on 100 metaphases and that is approximately in 15 fold greater than control index - 0.03 on 100 cells. Stable radiation markers (translocations, deletions) revealed with frequency 1.07 on 100 cells (control make up 0.4 on 100 cells). By results of of conducted cytogenetic analysis the attempt of mean group effective equivalent dose reconstruction received with inhabitants of Beskaragaj district is undertaken. It was calculated, that population of researched district have been got dose loading in 9.09 rem

  5. Employment of Oligodeoxynucleotide plus Interleukin-2 Improves Cytogenetic Analysis in Splenic Marginal Zone Lymphoma

    Directory of Open Access Journals (Sweden)

    Antonella Bardi

    2011-01-01

    Full Text Available To compare the efficiency of novel mitogenic agents and traditional mitosis inductors, 18 patients with splenic marginal zone lymphoma (SMZL were studied. Three cultures using oligodeoxynucleotide (ODN plus interleukin-2 (IL-2, or TPA, or LPS were setup in each patient. Seventeen/18 cases with ODN+IL2 had moderate/good proliferation (94,4% as compared with 10/18 cases with TPA and LPS (55% (P=.015; 14/18 (77,7% cases with ODN+IL2 had sufficient good quality of banding as compared with 8/18 cases (44,4% with TPA and LPS. The karyotype could be defined from ODN+IL2-stimulated cultures in all 18 patients, 14 of whom (77,7% had a cytogenetic aberration, whereas clonal aberrations could be documented in 9 and in 3 cases by stimulation with LPS and TPA, respectively. Recurrent chromosome aberrations in our series were represented by aberrations of chromosome 14q in 5 patients, by trisomy 12 and 7q deletion in 4 cases each, and by abnormalities involving 11q and 13q in two cases each. These findings show that stimulation with ODN+IL2 offers more mitotic figures of better quality and results in an increased rate of clonal aberrations in SMZL, making this method ideal for prospective studies aiming at the definition of the prognostic impact of cytogenetic aberrations in this disorder.

  6. Highly distinct chromosomal structures in cowpea (Vigna unguiculata), as revealed by molecular cytogenetic analysis.

    Science.gov (United States)

    Iwata-Otsubo, Aiko; Lin, Jer-Young; Gill, Navdeep; Jackson, Scott A

    2016-05-01

    Cowpea (Vigna unguiculata (L.) Walp) is an important legume, particularly in developing countries. However, little is known about its genome or chromosome structure. We used molecular cytogenetics to characterize the structure of pachytene chromosomes to advance our knowledge of chromosome and genome organization of cowpea. Our data showed that cowpea has highly distinct chromosomal structures that are cytologically visible as brightly DAPI-stained heterochromatic regions. Analysis of the repetitive fraction of the cowpea genome present at centromeric and pericentromeric regions confirmed that two retrotransposons are major components of pericentromeric regions and that a 455-bp tandem repeat is found at seven out of 11 centromere pairs in cowpea. These repeats likely evolved after the divergence of cowpea from common bean and form chromosomal structure unique to cowpea. The integration of cowpea genetic and physical chromosome maps reveals potential regions of suppressed recombination due to condensed heterochromatin and a lack of pairing in a few chromosomal termini. This study provides fundamental knowledge on cowpea chromosome structure and molecular cytogenetics tools for further chromosome studies.

  7. Cytogenetic bio-monitoring in fuel station attendants of Gujrat, Pakistan through buccal micronucleus cytome assay.

    Science.gov (United States)

    Butt, Faiza; Cheema, Kausar; Nisar, Numrah; Qureshi, Javed

    2017-07-01

    To analyse buccal epithelial cells for scoring the frequency of cytogenetic toxicity in petrol pump workers. The case-control study was conducted at the Lahore College for Women University, Lahore, Pakistan, from September 2014 to February 2015, and comprised petrol pump workers. Buccal micronucleus cytome assay was carried out by the collection of buccal cells after the written and oral consent of petrol pump workers. Frequencies of genotoxic (micronucleated and binucleated) and cytotoxic (karryorhetic and karyolitic) cells were scored and compared with the control group. The control group samples were collected randomly by keeping in view that these workers had not worked in petrol pumps ever. SPSS 16 was used for data analysis. Of the 200 participants, there were 100(50%) workers and 100(50%) controls. Statistically significant results were observed on the comparison of frequencies of different cell anomalies in subjects compared to controls on the basis of job duration, smoking habits and age (p< 0.05 each). Pump workers showed higher frequencies of cytogenetic toxicity compared to controls.

  8. Effect of maternal smoking during pregnancy on fetus: a cytogenetic perspective.

    Science.gov (United States)

    Kareli, Dimitra; Pouliliou, Stamatia; Nikas, Ioannis; Psillaki, Afrodite; Karelis, Angelos; Nikolettos, Nikos; Galazios, Georgios; Liberis, Vassilios; Lialiaris, Theodore

    2014-01-01

    The examination of the genotoxic, cytostatic and cytotoxic effects of smoking during pregnancy. Lymphocyte cultures of peripheral blood were received from 20 women who smoked during pregnancy as well as umbilical cord blood of their newborns. Fluorescence Plus Giemsa staining technique was used in order to perform cytogenetic analyses for three indices, Sister Chromatid Exchanges (SCEs), Proliferation Rate Index (PRI) and Mitotic Index (MI). To reveal any underlying chromosome instability, CPT-11 was used as a positive control. Newborns whose mothers smoke during pregnancy had increased SCEs levels on their lymphocytes when they were exposed to the mutagenic agent CPT-11 (p smoking mothers. Also, mothers smoking during pregnancy had increased SCE levels when their lymphocytes were exposed to CPT-11 (p smoking mothers whose lymphocytes were exposed to the same agent. In both groups newborns appeared as having decreased (p Smoking during pregnancy can promote cytogenetic damage in newborn's DNA, causing chromosome instability. The clinical importance of this indirect damage lies in the fact that this type of damage can act synergistically with other environmental and/or chemical mutagenic substances possibly leading to carcinogenicity.

  9. Comparative cytogenetic studies of Bufo ictericus, B. paracnemis (Amphibia, Anura and an intermediate form in sympatry

    Directory of Open Access Journals (Sweden)

    Azevedo MFC

    2003-01-01

    Full Text Available Specimens of Bufo ictericus, Bufo paracnemis and a third type, considered an intermediate subgroup between these species, were cytogenetically studied by conventional Giemsa staining, C-banding and staining of the nucleolus organizer region (NOR. The nuclear DNA content and seroproteins were also analyzed to characterize these species, and verify the possibility of hybridization between them. Karyotypes and cytogenetic markers were essentially equal on the basis of the methods used. The DNA nuclear content found was 6.25 ± 0.30 pg/DNA in Bufo ictericus; 7.57 ± 0.40 pg/DNA in Bufo paracnemis and 7.04 ± 0.29 pg/DNA in the intermediate subgroup. Eletrophoresis of total blood serum in Bufo ictericus, Bufo paracnemis and the intermediate specimens revealed a remarkable difference in the patterns of the protein bands whose molecular weight corresponded to that of albumin. While the parental species presented two different bands, the intermediate form presented 4. However, only three of these bands were seen in each specimen. The results obtained pointed to a high probability for natural hybridization between Bufo ictericus and Bufo paracnemis in the site and specimens studied.

  10. [Application of gene array chip in diagnosis of cytogenetics of recurrent spontaneous abortion].

    Science.gov (United States)

    Shen, Guo-song; Zhang, Su; He, Ping-ya

    2013-07-01

    To investigate clinical value of single nucleotide polymorphism array (SNP-array) gene chip technique in diagnosis of genetics of recurrent spontaneous abortion(RSA). From January to October 2012, the 26 patients with more than twice of spontaneous abortion in Huzhou Maternal and Child Health Care Hospital were enrolled in this study(RSA group). Meanwhile 20 cases with induced abortion were taken as control group. All aborted tissues were analyzed with conventional cytogenetic karyotyping and SNP-array, respectively. Chorionic villus chromosomal examination was successfully done in 19 cases (73%, 19/26) , which 10 cases were found with chromosomal anomaly, the overall detection rate is 10/19. However, SNP-array analysis was successfully performed in all 26 cases. The overall rate of detection was 100%, and abnormalities were found in 15 cases, which reached the detection rate was 58% (15/26). Chorionic villus chromosomal examination was successfully done in 16 cases (16/20) in control group, and none of the resluts was chomosomal anomaly; SNP-array analysis was successfully performed in all 20 cases (20/20), and none was found abnormalities. SNP-array gene chip technique showed highly accurate feature, which could be used in cytogenetic diagnosis of recurrent spontaneous abortion.

  11. Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies (Spanish Edition)

    International Nuclear Information System (INIS)

    2014-01-01

    Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual’s working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade

  12. Cytogenetic effects of radioiodine therapy: a 20-year follow-up study

    Energy Technology Data Exchange (ETDEWEB)

    Livingston, Gordon K. [Oak Ridge Institute for Science and Education, Radiation Emergency Assistance Center/Training Site, Oak Ridge, TN (United States); Khvostunov, Igor K. [Medical Radiological Research Center, Obninsk, Kaluga Region (Russian Federation); Gregoire, Eric [Institut de Radioprotection et de Surete Nucleaire, PRP-HOM/SRBE/LDB, BP 17, Fontenay aux roses Cedex (France); Barquinero, Joan-Francesc [Universtitat Autonoma de Barcelona, Facultat de Biociencies, Cerdanyola del Valles (Spain); Shi, Lin; Tashiro, Satoshi [Hiroshima University, Department of Cellular Biology, Research Institute for Radiation Biology and Medicine, Hiroshima (Japan)

    2016-05-15

    The purpose of this study was to compare cytogenetic data in a patient before and after treatment with radioiodine to evaluate the assays in the context of biological dosimetry. We studied a 34-year-old male patient who underwent a total thyroidectomy followed by ablation therapy with {sup 131}I (19.28 GBq) for a papillary thyroid carcinoma. The patient provided blood samples before treatment and then serial samples at monthly intervals during the first year period and quarterly intervals for 5 years and finally 20 years after treatment. A micronucleus assay, dicentric assay, FISH method and G-banding were used to detect and measure DNA damage in circulating peripheral blood lymphocytes of the patient. The results showed that radiation-induced cytogenetic effects persisted for many years after treatment as shown by elevated micronuclei and chromosome aberrations as a result of exposure to {sup 131}I. At 5 years after treatment, the micronucleus count was tenfold higher than the pre-exposure frequency. Shortly after the treatment, micronucleus counts produced a dose estimate of 0.47 ± 0.09 Gy. The dose to the patient evaluated retrospectively using FISH-measured translocations was 0.70 ± 0.16 Gy. Overall, our results show that the micronucleus assay is a retrospective biomarker of low-dose radiation exposure. However, this method is not able to determine local dose to the target tissue which in this case was any residual thyroid cells plus metastases of thyroidal origin. (orig.)

  13. Cytogenetic monitoring of children from regions with a different radioecological situation

    International Nuclear Information System (INIS)

    Amvrosiev, A.P.; Nikolaevich, L.N.

    1993-01-01

    The frequency of chromosome aberrations in blood lymphocytes of children from some districts of Gomel region of Belarus Republic with different radioecological situations has been studied by the cytogenetic examination for the population exposed to additional irradiation due to the Chernobyl disaster. Radiocontamination density in the territory of these settlements made up 20.0-40.0; 17.0; 6.0-9.0 Ci/Km 2 for Cs-137; 1.0-1.7; 2.1; 0.4-1.5 Ci/Km 2 for Sr-90; γ background being 0.130-0.16; 0.106-0.209; 0.90-0.250 mR/h. The results show that aberrant cell frequency in children of the first group is 1.5 times the control one. In a group of children from the settlement strelichevo the average level of aberrant cells is also 1.2 times the control one. In children from Sudkovo aberration frequency of the chromosome type is 1.6 times the control values. The specific for radiation action cytogenetic effect in the children examined increased with the rise in 137 Cs area contamination density

  14. Cytogenetic damage in lymphocytes of patients undergoing therapy for small cell lung cancer and ovarian carcinoma.

    Science.gov (United States)

    Padjas, Anna; Lesisz, Dominika; Lankoff, Anna; Banasik, Anna; Lisowska, Halina; Bakalarz, Robert; Góźdź, Stanisław; Wojcik, Andrzej

    2005-12-01

    The level of cytogenetic damage in peripheral blood lymphocytes of patients undergoing chemotherapy has been analyzed incisively 20 years ago. The results showed that the highest level of cytogenetic damage was observed at the end of therapy. In recent years, the doses of anticancer drugs were intensified thanks to the discovery of colony stimulating factors. Therefore, it was interesting to analyze the kinetics of micronuclei formation in lymphocytes of patients undergoing modern chemotherapy. The frequencies of micronuclei were measured in lymphocytes of 6 patients with small cell lung cancer treated with a combination of cisplatin and etoposide and 7 patients with ovarian carcinoma treated with a combination of taxol and cisplatin. 3 patients with lung cancer received radiotherapy in addition to chemotherapy. Micronuclei were analyzed in lymphocytes collected before the start of therapy and 1 day before each following cycle of chemotherapy. The micronucleus frequencies were compared with the kinetics of leukocyte counts. The micronucleus frequencies showed an interindividual variability. On average, the frequencies of micronuclei increased during the first half of therapy and declined thereafter, reaching, in some patients with ovarian carcinoma, values below the pre-treatment level. Leukocyte counts decreased strongly at the beginning of therapy with an upward trend at the end. We suggest that the decline of micronuclei was due to repopulation of lymphocytes and acquired drug resistance.

  15. Cytogenetic damage in lymphocytes of patients undergoing therapy for small cell lung cancer and ovarian carcinoma

    International Nuclear Information System (INIS)

    Padjas, Anna; Lesisz, Dominika; Lankoff, Anna; Banasik, Anna; Lisowska, Halina; Bakalarz, Robert; Gozdz, Stanislaw; Wojcik, Andrzej

    2005-01-01

    The level of cytogenetic damage in peripheral blood lymphocytes of patients undergoing chemotherapy has been analyzed incisively 20 years ago. The results showed that the highest level of cytogenetic damage was observed at the end of therapy. In recent years, the doses of anticancer drugs were intensified thanks to the discovery of colony stimulating factors. Therefore, it was interesting to analyze the kinetics of micronuclei formation in lymphocytes of patients undergoing modern chemotherapy. The frequencies of micronuclei were measured in lymphocytes of 6 patients with small cell lung cancer treated with a combination of cisplatin and etoposide and 7 patients with ovarian carcinoma treated with a combination of taxol and cisplatin. 3 patients with lung cancer received radiotherapy in addition to chemotherapy. Micronuclei were analyzed in lymphocytes collected before the start of therapy and 1 day before each following cycle of chemotherapy. The micronucleus frequencies were compared with the kinetics of leukocyte counts. The micronucleus frequencies showed an interindividual variability. On average, the frequencies of micronuclei increased during the first half of therapy and declined thereafter, reaching, in some patients with ovarian carcinoma, values below the pre-treatment level. Leukocyte counts decreased strongly at the beginning of therapy with an upward trend at the end. We suggest that the decline of micronuclei was due to repopulation of lymphocytes and acquired drug resistance

  16. Clinical and cytogenetic analysis of human anemias from Jammu region of Jammu and Kashmir state

    Science.gov (United States)

    Upma; Kumar, Parvinder; Raina, T. R.; Sharma, Kuldeep; Gupta, Subash

    2010-01-01

    Background: Anemias are the blood disorders characterized by reduction in the number of circulating red blood cells, the amount of hemoglobin, or the volume of packed red cells in blood. Chromosomal aberrations have often been reported from the bone marrow as well as cultured lymphocytes of the anemic patients. Aims: The aims of the study were to find out the commonest type of anemia occurring in the population of Jammu, India and to find out the chromosomal changes involved in the disorder. Material and Methods: Present study has been carried out on the bone marrow samples from 53 clinically diagnosed anemic patients. Cytogenetic study was carried out on slides prepared from these samples. Noncytogenetic factors like age, sex, religion, blood groups, family history of anemia, socioeconomic status, etc. have also been included in the study. Results: Megaloblastic anemia was found to be the commonest type of anemia. Centromere stretching, chromatid breaks, gaps, and elongation of chromosomes were recorded in patients with megaloblastic anemia and combined deficiency anemia. However, structural changes and numerical changes were totally absent. Conclusion: The commonest anemia among the people of Jammu region is megaloblastic anemia and its prevalence is increasing every year. Also, megaloblastic anemia is always associated with reversible cytogenetic changes. PMID:20859508

  17. Clinical and cytogenetic analysis of human anemias from Jammu region of Jammu and Kashmir state

    Directory of Open Access Journals (Sweden)

    Upma

    2010-01-01

    Full Text Available Background : Anemias are the blood disorders characterized by reduction in the number of circulating red blood cells, the amount of hemoglobin, or the volume of packed red cells in blood. Chromosomal aberrations have often been reported from the bone marrow as well as cultured lymphocytes of the anemic patients. Aims: The aims of the study were to find out the commonest type of anemia occurring in the population of Jammu, India and to find out the chromosomal changes involved in the disorder. Material and Methods: Present study has been carried out on the bone marrow samples from 53 clinically diagnosed anemic patients. Cytogenetic study was carried out on slides prepared from these samples. Noncytogenetic factors like age, sex, religion, blood groups, family history of anemia, socioeconomic status, etc. have also been included in the study. Results: Megaloblastic anemia was found to be the commonest type of anemia. Centromere stretching, chromatid breaks, gaps, and elongation of chromosomes were recorded in patients with megaloblastic anemia and combined deficiency anemia. However, structural changes and numerical changes were totally absent. Conclusion: The commonest anemia among the people of Jammu region is megaloblastic anemia and its prevalence is increasing every year. Also, megaloblastic anemia is always associated with reversible cytogenetic changes.

  18. Complex cytogenetic findings in the bone marrow of a chronic idiopathic myelofibrosis patient

    Directory of Open Access Journals (Sweden)

    Tuğçe Bulakbaşı Balcı

    2010-06-01

    Full Text Available Chronic idiopathic myelofibrosis is a myeloproliferative disorder characterized by splenomegaly, myeloid metaplasia and reactive bone marrow fibrosis. Karyotype analysis of the bone marrow is an integral part of the diagnosis, especially as a discriminative tool in ruling out reactive conditions. The frequency of clonal cytogenetic anomalies in this disease is the highest among its group, varying between 30 and 75%. Among these, trisomy 1q, 20q-, 13q- and +8 are the most common aberrations. Here we report a 66-year-old male patient whose bone marrow biopsy revealed signs of chronic myeloproliferative changes and dysmegakaryopoiesis. He was administered hydroxyurea treatment, splenic radiotherapy and multiple transfusions. The patient worsened in the following months and the second bone marrow biopsy revealed myelofibrosis. Cytogenetic analysis of this bone marrow sample revealed a complex karyotype reported to be 46,XY,del(9(q22q34,t(8;17;21(q22;q21;q22[23]/46,XY[2], with a previously undefined three-way translocation and deletion in chromosome 9. The patient died shortly thereafter.

  19. Cytogenetically Unrelated Clones in Acute Myeloid Leukemia Showing Different Responses to Chemotherapy

    Directory of Open Access Journals (Sweden)

    Kohei Kasahara

    2016-01-01

    Full Text Available We report a case of acute myeloid leukemia (AML with two cytogenetically unrelated clones. The patient was a 45-year-old male who was diagnosed with acute monoblastic leukemia (AMoL. Initial G-band analysis showed 51,XY,+6,+8,inv(9(p12q13c,+11,+13,+19[12]/52,idem,+Y[8], but G-band analysis after induction therapy showed 45,XY,-7,inv(9(p12q13c[19]/46,XY,inv(9(p12q13c[1]. Retrospective FISH analysis revealed a cryptic monosomy 7 clone in the initial AML sample. The clone with multiple trisomies was eliminated after induction therapy and never recurred, but a clone with monosomy 7 was still detected in myelodysplastic marrow with a normal blast percentage. Both clones were successfully eliminated after related peripheral blood stem cell transplantation, but the patient died of relapsed AML with monosomy 7. We concluded that one clone was de novo AMoL with chromosome 6, 8, 11, 13, and 19 trisomy and that the other was acute myeloid leukemia with myelodysplasia-related changes (AML-MRC with chromosome 7 monosomy showing different responses to chemotherapy. Simultaneous onset of cytogenetically unrelated hematological malignancies that each have a different disease status is a rare phenomenon but is important to diagnose for a correct understanding of the disease status and for establishing an appropriate treatment strategy.

  20. Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies (Russian Edition)

    International Nuclear Information System (INIS)

    2014-01-01

    Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade

  1. Automation, Performance and International Competition

    DEFF Research Database (Denmark)

    Kromann, Lene; Sørensen, Anders

    This paper presents new evidence on trade‐induced automation in manufacturing firms using unique data combining a retrospective survey that we have assembled with register data for 2005‐2010. In particular, we establish a causal effect where firms that have specialized in product types for which...... the Chinese exports to the world market has risen sharply invest more in automated capital compared to firms that have specialized in other product types. We also study the relationship between automation and firm performance and find that firms with high increases in scale and scope of automation have faster...... productivity growth than other firms. Moreover, automation improves the efficiency of all stages of the production process by reducing setup time, run time, and inspection time and increasing uptime and quantity produced per worker. The efficiency improvement varies by type of automation....

  2. An Approach to Office Automation

    OpenAIRE

    Ischenko, A.N.; Tumeo, M.A.

    1983-01-01

    In recent years, the increasing scale of production and degree of specialization within firms has led to a significant growth in the amount of information needed for their successful management. As a result, the use of computer systems (office automation) has become increasingly common. However, no manuals or set automation procedures exist to help organizations design and implement an efficient and effective office automation system. The goals of this paper are to outline some important...

  3. Embedded system for building automation

    OpenAIRE

    Rolih, Andrej

    2014-01-01

    Home automation is a fast developing field of computer science and electronics. Companies are offering many different products for home automation. Ranging anywhere from complete systems for building management and control, to simple smart lights that can be connected to the internet. These products offer the user greater living comfort and lower their expenses by reducing the energy usage. This thesis shows the development of a simple home automation system that focuses mainly on the enhance...

  4. World-wide distribution automation systems

    International Nuclear Information System (INIS)

    Devaney, T.M.

    1994-01-01

    A worldwide power distribution automation system is outlined. Distribution automation is defined and the status of utility automation is discussed. Other topics discussed include a distribution management system, substation feeder, and customer functions, potential benefits, automation costs, planning and engineering considerations, automation trends, databases, system operation, computer modeling of system, and distribution management systems

  5. Contaminant analysis automation, an overview

    International Nuclear Information System (INIS)

    Hollen, R.; Ramos, O. Jr.

    1996-01-01

    To meet the environmental restoration and waste minimization goals of government and industry, several government laboratories, universities, and private companies have formed the Contaminant Analysis Automation (CAA) team. The goal of this consortium is to design and fabricate robotics systems that standardize and automate the hardware and software of the most common environmental chemical methods. In essence, the CAA team takes conventional, regulatory- approved (EPA Methods) chemical analysis processes and automates them. The automation consists of standard laboratory modules (SLMs) that perform the work in a much more efficient, accurate, and cost- effective manner

  6. Fossil power plant automation

    International Nuclear Information System (INIS)

    Divakaruni, S.M.; Touchton, G.

    1991-01-01

    This paper elaborates on issues facing the utilities industry and seeks to address how new computer-based control and automation technologies resulting from recent microprocessor evolution, can improve fossil plant operations and maintenance. This in turn can assist utilities to emerge stronger from the challenges ahead. Many presentations at the first ISA/EPRI co-sponsored conference are targeted towards improving the use of computer and control systems in the fossil and nuclear power plants and we believe this to be the right forum to share our ideas

  7. Prenatal Cytogenetic Findings in 13.466 Cases of High-Risk Pregnant Women in One Laboratory

    Directory of Open Access Journals (Sweden)

    Leyla Özer

    2016-05-01

    CONCLUSION: This study presents the largest series of cytogenetic findings on prenatal samples performed in Turkey. Analysis of samples of high risk pregnancies could provide an important database for prenatal genetic counseling and obstetric management for each indication groups.

  8. Molecular-cytogenetic aberrations in B-cell adult acute lymphoblastic leukemia (B-ALL) - frequency and correlation with immunophenotype.

    Science.gov (United States)

    Velizarova, Milena; Popova, Dora; Hadjiev, Evgenii; Aleksandrova, Kamelia; Dimova, Ivanka; Zaharieva, Boriana; Toshkov, Stavri; Staneva, Mimoza; Hodjajik, Djansaran; Penev, Marin; Toncheva, Draga

    2006-09-05

    B-cell acute lymphoblastic leukemia (B-ALL) accounts for 20-30% of acute leukemias in adults. Combined application of data from immunophenotyping, karyotyping and molecular analyses allows a better understanding of this heterogeneous disease. We studied 30 adult patients with newly diagnosed B-ALL by conventional cytogenetics, fluorescent in situ hybridization (FISH) and immunophenotyping analyses. We report statistically significant prevalence of structural aberrations (43%) over numerical changes (17%) (p=0.02). The most frequent structural changes were t(9;22)(q34;q11)/bcr-abl-17%, t(8q24)/C-MYC-10%, t(11q23)/MLL-6%, del 4p-6%, del12p-3%, and t(1;19)-3%. Complex karyotype was found in 17% and normal karyotype in 30%. The most frequent immunophenotype was of common B-ALL (43%), and cytogenetic and/or molecular abnormalities were found in 78% of them. We distinguished a relatively high incidence (17%) of mature B-ALL and 60% of them were associated with t(8;14)/C-MYC. We established association of cytogenetic aberrations with immunophenotype only in mature B-ALL. The other immunophenotypes are characterized by genetic heterogeneity and the presence of cytogenetic abnormalities unusual for adult B-ALL - trisomy 8 and t(1;19)(q23;p13).

  9. Cytogenetic effects of weak and combined actions in plants in connection with a problem of ecological rating

    International Nuclear Information System (INIS)

    Geras'kin, S.A.; Dikarev, V.G.; Udalova, A.A.; Dikareva, N.S.; Vasil'ev, D.V.; Evseeva, T.I.

    2002-01-01

    It is compared sanitary-hygienic and ecological approaches to rating of ionizing radiation action. The features of formation of cytogenetic effects in plants in conditions of separate and combined with factors of other nature action of ionizing radiation low doses are considered. (author)

  10. Rare cytogenetic abnormalities and alteration of microRNAs in acute myeloid leukemia and response to therapy

    Directory of Open Access Journals (Sweden)

    Mohammad Shahjahani

    2015-03-01

    Full Text Available Acute myeloid leukemia (AML is the most common acute leukemia in adults, which is heterogeneous in terms of morphological, cytogenetic and clinical features. Cytogenetic abnormalities, including karyotype aberrations, gene mutations and gene expression abnormalities are the most important diagnostic tools in diagnosis, classification and prognosis in acute myeloid leukemias. Based on World Health Organization (WHO classification, acute myeloid leukemias can be divided to four groups. Due to the heterogeneous nature of AML and since most therapeutic protocols in AML are based on genetic alterations, gathering further information in the field of rare disorders as well as common cytogenetic abnormalities would be helpful in determining the prognosis and treatment in this group of diseases. Recently, the role of microRNAs (miRNAs in both normal hematopoiesis and myeloid leukemic cell differentiation in myeloid lineage has been specified. miRNAs can be used instead of genes for AML diagnosis and classification in the future, and can also play a decisive role in the evaluation of relapse as well as response to treatment in the patients. Therefore, their use in clinical trials can affect treatment protocols and play a role in therapeutic strategies for these patients. In this review, we have examined rare cytogenetic abnormalities in different groups of acute myeloid leukemias according to WHO classification, and the role of miRNA expression in classification, diagnosis and response to treatment of these disorders has also been dealt with.

  11. Rare Cytogenetic Abnormalities and Alteration of microRNAs in Acute Myeloid Leukemia and Response to Therapy

    Science.gov (United States)

    Shahjahani, Mohammad; Khodadi, Elahe; Seghatoleslami, Mohammad; Asl, Javad Mohammadi; Golchin, Neda; Zaieri, Zeynab Deris

    2015-01-01

    Acute myeloid leukemia (AML) is the most common acute leukemia in adults, which is heterogeneous in terms of morphological, cytogenetic and clinical features. Cytogenetic abnormalities, including karyotype aberrations, gene mutations and gene expression abnormalities are the most important diagnostic tools in diagnosis, classification and prognosis in acute myeloid leukemias. Based on World Health Organization (WHO) classification, acute myeloid leukemias can be divided to four groups. Due to the heterogeneous nature of AML and since most therapeutic protocols in AML are based on genetic alterations, gathering further information in the field of rare disorders as well as common cytogenetic abnormalities would be helpful in determining the prognosis and treatment in this group of diseases. Recently, the role of microRNAs (miRNAs) in both normal hematopoiesis and myeloid leukemic cell differentiation in myeloid lineage has been specified. miRNAs can be used instead of genes for AML diagnosis and classification in the future, and can also play a decisive role in the evaluation of relapse as well as response to treatment in the patients. Therefore, their use in clinical trials can affect treatment protocols and play a role in therapeutic strategies for these patients. In this review, we have examined rare cytogenetic abnormalities in different groups of acute myeloid leukemias according to WHO classification, and the role of miRNA expression in classification, diagnosis and response to treatment of these disorders has also been dealt with. PMID:26779308

  12. Rare Cytogenetic Abnormalities and Alteration of microRNAs in Acute Myeloid Leukemia and Response to Therapy.

    Science.gov (United States)

    Shahjahani, Mohammad; Khodadi, Elahe; Seghatoleslami, Mohammad; Asl, Javad Mohammadi; Golchin, Neda; Zaieri, Zeynab Deris; Saki, Najmaldin

    2015-02-10

    Acute myeloid leukemia (AML) is the most common acute leukemia in adults, which is heterogeneous in terms of morphological, cytogenetic and clinical features. Cytogenetic abnormalities, including karyotype aberrations, gene mutations and gene expression abnormalities are the most important diagnostic tools in diagnosis, classification and prognosis in acute myeloid leukemias. Based on World Health Organization (WHO) classification, acute myeloid leukemias can be divided to four groups. Due to the heterogeneous nature of AML and since most therapeutic protocols in AML are based on genetic alterations, gathering further information in the field of rare disorders as well as common cytogenetic abnormalities would be helpful in determining the prognosis and treatment in this group of diseases. Recently, the role of microRNAs (miRNAs) in both normal hematopoiesis and myeloid leukemic cell differentiation in myeloid lineage has been specified. miRNAs can be used instead of genes for AML diagnosis and classification in the future, and can also play a decisive role in the evaluation of relapse as well as response to treatment in the patients. Therefore, their use in clinical trials can affect treatment protocols and play a role in therapeutic strategies for these patients. In this review, we have examined rare cytogenetic abnormalities in different groups of acute myeloid leukemias according to WHO classification, and the role of miRNA expression in classification, diagnosis and response to treatment of these disorders has also been dealt with.

  13. Approaches for cytogenetic and molecular analyses of small flow-sorted cell populations from childhood leukemia bone marrow samples

    DEFF Research Database (Denmark)

    Obro, Nina Friesgaard; Madsen, Hans O.; Ryder, Lars Peter

    2011-01-01

    defined cell populations with subsequent analyses of leukemia-associated cytogenetic and molecular marker. The approaches described here optimize the use of the same tube of unfixed, antibody-stained BM cells for flow-sorting of small cell populations and subsequent exploratory FISH and PCR-based analyses....

  14. Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade.

    Science.gov (United States)

    Mademont-Soler, Irene; Morales, Carme; Clusellas, Núria; Soler, Anna; Sánchez, Aurora

    2011-08-01

    Chromosome abnormalities are one of the main causes of congenital defects, and establishing their frequency according to the different clinical indications for invasive procedure during pregnancy is especially important for genetic counselling. We analyzed the results of 29,883 amniotic fluid samples referred to our laboratory for cytogenetic studies from 1998 to 2009, which constitutes the largest series of cytogenetic analysis performed on amniotic fluid samples in Spain. The number of samples received tended to increase from 1998 to 2005, but after 2005 it decreased substantially. Cytogenetic results were obtained in 99.5% of the samples, and the detected incidence of chromosome abnormalities was 2.9%. Of these, 48.1% consisted of classical autosomal aneuploidies, trisomy 21 being the most frequent one. The main clinical indications for amniocentesis were positive prenatal screening and advanced maternal age, but referral reasons with highest positive predictive values were, excluding parental chromosome rearrangement, increased nuchal translucency (9.2%) and ultrasound abnormalities (6.6%). In conclusion, performing the karyotype on amniotic fluid samples is a good method for the detection of chromosome abnormalities during pregnancy. The number of cytogenetic studies on amniotic fluid has now decreased, however, due to the implementation of first trimester prenatal screening for the detection of Down syndrome, which allows karyotyping on chorionic villus samples. Our results also show that both ultrasound abnormalities and increased nuchal translucency are excellent clinical indicators for fetal chromosome abnormality. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  15. The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

    DEFF Research Database (Denmark)

    Nazaryan, Lusine; Stefanou, Eunice G; Hansen, Claus

    2014-01-01

    with many CCRs, none of the reported mate-pair sequenced complex rearrangements have been simultaneously studied with state-of-the art molecular cytogenetic techniques. Here, we studied chromothripsis-associated CCR involving chromosomes 2, 5 and 7, associated with global developmental and psychomotor delay...

  16. Genome‐wide analysis of cytogenetic aberrations in ETV6/RUNX1‐positive childhood acute lymphoblastic leukaemia

    DEFF Research Database (Denmark)

    Borst, Louise; Wesolowska, Agata; Joshi, Tejal

    2012-01-01

    The chromosomal translocation t(12;21) resulting in the ETV6/RUNX1 fusion gene is the most frequent structural cytogenetic abnormality among patients with childhood acute lymphoblastic leukaemia (ALL). We investigated 62 ETV6/RUNX1‐positive childhood ALL patients by single nucleotide polymorphism...

  17. Molecular cytogenetic characterization of alien introgressions with gene Fhb3 for resistance to Fusarium head blight disease of wheat

    Science.gov (United States)

    Fusarium head blight (FHB) resistance was identified in the alien species Leymus racemosus, and wheat-Leymus introgression lines with FHB resistance were reported previously. Detailed molecular cytogenetic analysis of alien introgressions T01, T09, and T14 and the mapping of Fhb3, a new gene for FHB...

  18. Automated Test Case Generation

    CERN Multimedia

    CERN. Geneva

    2015-01-01

    I would like to present the concept of automated test case generation. I work on it as part of my PhD and I think it would be interesting also for other people. It is also the topic of a workshop paper that I am introducing in Paris. (abstract below) Please note that the talk itself would be more general and not about the specifics of my PhD, but about the broad field of Automated Test Case Generation. I would introduce the main approaches (combinatorial testing, symbolic execution, adaptive random testing) and their advantages and problems. (oracle problem, combinatorial explosion, ...) Abstract of the paper: Over the last decade code-based test case generation techniques such as combinatorial testing or dynamic symbolic execution have seen growing research popularity. Most algorithms and tool implementations are based on finding assignments for input parameter values in order to maximise the execution branch coverage. Only few of them consider dependencies from outside the Code Under Test’s scope such...

  19. Automation from pictures

    International Nuclear Information System (INIS)

    Kozubal, A.J.

    1992-01-01

    The state transition diagram (STD) model has been helpful in the design of real time software, especially with the emergence of graphical computer aided software engineering (CASE) tools. Nevertheless, the translation of the STD to real time code has in the past been primarily a manual task. At Los Alamos we have automated this process. The designer constructs the STD using a CASE tool (Cadre Teamwork) using a special notation for events and actions. A translator converts the STD into an intermediate state notation language (SNL), and this SNL is compiled directly into C code (a state program). Execution of the state program is driven by external events, allowing multiple state programs to effectively share the resources of the host processor. Since the design and the code are tightly integrated through the CASE tool, the design and code never diverge, and we avoid design obsolescence. Furthermore, the CASE tool automates the production of formal technical documents from the graphic description encapsulated by the CASE tool. (author)

  20. AUTOMATED GEOSPATIAL WATERSHED ASSESSMENT ...

    Science.gov (United States)

    The Automated Geospatial Watershed Assessment tool (AGWA) is a GIS interface jointly developed by the USDA Agricultural Research Service, the U.S. Environmental Protection Agency, the University of Arizona, and the University of Wyoming to automate the parameterization and execution of the Soil Water Assessment Tool (SWAT) and KINEmatic Runoff and EROSion (KINEROS2) hydrologic models. The application of these two models allows AGWA to conduct hydrologic modeling and watershed assessments at multiple temporal and spatial scales. AGWA’s current outputs are runoff (volumes and peaks) and sediment yield, plus nitrogen and phosphorus with the SWAT model. AGWA uses commonly available GIS data layers to fully parameterize, execute, and visualize results from both models. Through an intuitive interface the user selects an outlet from which AGWA delineates and discretizes the watershed using a Digital Elevation Model (DEM) based on the individual model requirements. The watershed model elements are then intersected with soils and land cover data layers to derive the requisite model input parameters. The chosen model is then executed, and the results are imported back into AGWA for visualization. This allows managers to identify potential problem areas where additional monitoring can be undertaken or mitigation activities can be focused. AGWA also has tools to apply an array of best management practices. There are currently two versions of AGWA available; AGWA 1.5 for