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Sample records for automated cytogenetic biodosimetry

  1. Sample tracking in an automated cytogenetic biodosimetry laboratory for radiation mass casualties

    Energy Technology Data Exchange (ETDEWEB)

    Martin, P.R.; Berdychevski, R.E.; Subramanian, U.; Blakely, W.F. [Armed Forces Radiobiology Research Institute, Uniformed Services University of Health Sciences, 8901 Wisconsin Avenue, Bethesda, MD 20889-5603 (United States); Prasanna, P.G.S. [Armed Forces Radiobiology Research Institute, Uniformed Services University of Health Sciences, 8901 Wisconsin Avenue, Bethesda, MD 20889-5603 (United States)], E-mail: prasanna@afrri.usuhs.mil

    2007-07-15

    Chromosome-aberration-based dicentric assay is expected to be used after mass-casualty life-threatening radiation exposures to assess radiation dose to individuals. This will require processing of a large number of samples for individual dose assessment and clinical triage to aid treatment decisions. We have established an automated, high-throughput, cytogenetic biodosimetry laboratory to process a large number of samples for conducting the dicentric assay using peripheral blood from exposed individuals according to internationally accepted laboratory protocols (i.e., within days following radiation exposures). The components of an automated cytogenetic biodosimetry laboratory include blood collection kits for sample shipment, a cell viability analyzer, a robotic liquid handler, an automated metaphase harvester, a metaphase spreader, high-throughput slide stainer and coverslipper, a high-throughput metaphase finder, multiple satellite chromosome-aberration analysis systems, and a computerized sample-tracking system. Laboratory automation using commercially available, off-the-shelf technologies, customized technology integration, and implementation of a laboratory information management system (LIMS) for cytogenetic analysis will significantly increase throughput. This paper focuses on our efforts to eliminate data-transcription errors, increase efficiency, and maintain samples' positive chain-of-custody by sample tracking during sample processing and data analysis. This sample-tracking system represents a 'beta' version, which can be modeled elsewhere in a cytogenetic biodosimetry laboratory, and includes a customized LIMS with a central server, personal computer workstations, barcode printers, fixed station and wireless hand-held devices to scan barcodes at various critical steps, and data transmission over a private intra-laboratory computer network. Our studies will improve diagnostic biodosimetry response, aid confirmation of clinical triage, and

  2. Cytogenetic Biodosimetry for Radiation Disasters: Recent Advances

    Science.gov (United States)

    2005-01-01

    Radiation exposure induces many types of chromosomal aberrations in the exposed individual’s peripheral blood lymphocytes. The presence of dicentrics , a... chromosomal structural aberration, in an individual’s pe- ripheral blood lymphocytes indicates radiation exposure. Dicentrics are considered relatively...method. This cytogenetic chromosome aberration bioassay is a thoroughly investigated biodosimetry method. The dicentric assay is conventionally

  3. Micronucleus test for radiation biodosimetry in mass casualty events: Evaluation of visual and automated scoring

    Energy Technology Data Exchange (ETDEWEB)

    Bolognesi, Claudia, E-mail: claudia.bolognesi@istge.i [Environmental Carcinogenesis Unit, National Cancer Research Institute, Largo R. Benzi 10, 16132 Genoa (Italy); Balia, Cristina; Roggieri, Paola [Environmental Carcinogenesis Unit, National Cancer Research Institute, Largo R. Benzi 10, 16132 Genoa (Italy); Cardinale, Francesco [Clinical Epidemiology Unit, National Cancer Research Institute, Largo R. Benzi 10, 16132 Genoa (Italy); Department of Health Sciences, University of Genoa, Genoa (Italy); Bruzzi, Paolo [Clinical Epidemiology Unit, National Cancer Research Institute, Largo R. Benzi 10, 16132 Genoa (Italy); Sorcinelli, Francesca [Environmental Carcinogenesis Unit, National Cancer Research Institute, Largo R. Benzi 10, 16132 Genoa (Italy); Laboratory of Genetics, Histology and Molecular Biology Section, Army Medical and Veterinary, Research Center, Via Santo Stefano Rotondo 4, 00184 Roma (Italy); Lista, Florigio [Laboratory of Genetics, Histology and Molecular Biology Section, Army Medical and Veterinary, Research Center, Via Santo Stefano Rotondo 4, 00184 Roma (Italy); D' Amelio, Raffaele [Sapienza, Universita di Roma II Facolta di Medicina e Chirurgia and Ministero della Difesa, Direzione Generale Sanita Militare (Italy); Righi, Enzo [Frascati National Laboratories, National Institute of Nuclear Physics, Via Enrico Fermi 40, 00044 Frascati, Rome (Italy)

    2011-02-15

    In the case of a large-scale nuclear or radiological incidents a reliable estimate of dose is an essential tool for providing timely assessment of radiation exposure and for making life-saving medical decisions. Cytogenetics is considered as the 'gold standard' for biodosimetry. The dicentric analysis (DA) represents the most specific cytogenetic bioassay. The micronucleus test (MN) applied in interphase in peripheral lymphocytes is an alternative and simpler approach. A dose-effect calibration curve for the MN frequency in peripheral lymphocytes from 27 adult donors was established after in vitro irradiation at a dose range 0.15-8 Gy of {sup 137}Cs gamma rays (dose rate 6 Gy min{sup -1}). Dose prediction by visual scoring in a dose-blinded study (0.15-4.0 Gy) revealed a high level of accuracy (R = 0.89). The scoring of MN is time consuming and requires adequate skills and expertise. Automated image analysis is a feasible approach allowing to reduce the time and to increase the accuracy of the dose estimation decreasing the variability due to subjective evaluation. A good correlation (R = 0.705) between visual and automated scoring with visual correction was observed over the dose range 0-2 Gy. Almost perfect discrimination power for exposure to 1-2 Gy, and a satisfactory power for 0.6 Gy were detected. This threshold level can be considered sufficient for identification of sub lethally exposed individuals by automated CBMN assay.

  4. Fish cytogenetics and the future of radiation biodosimetry

    Energy Technology Data Exchange (ETDEWEB)

    Tucker, J.D

    2001-07-01

    Fluorescence in situ hybridisation with whole chromosome paints has greatly facilitated the analysis of structural chromosome aberrations and has led to translocations replacing dicentrics as the aberration of choice for many applications. Major challenges remain if we are to go from translocations to an understanding of the health consequences of radiation exposure. Yet to be surmounted are the roles of individual susceptibility, time since exposure, and the effects of subjects' age. Accomplishing these objectives will require automation, reduced costs, improved calibration, and extensive use of baseline samples. (author)

  5. Fish cytogenetics and the future of radiation biodosimetry.

    Science.gov (United States)

    Tucker, J D

    2001-01-01

    Fluorescence in situ hybridisation (FISH) with whole chromosome paints has greatly facilitated the analysis of structural chromosome aberrations and has led to translocations replacing dicentrics as the aberration of choice for many applications. Major challenges remain if we are to go from translocations to an understanding of the health consequences of radiation exposure. Yet to be surmounted are the roles of individual susceptibility, time since exposure, and the effects of subjects age. Accomplishing these objectives will require automation, reduced costs, improved calibration, and extensive use of baseline samples.

  6. Establishing cytogenetic biodosimetry laboratory in Saudi Arabia and producing preliminary calibration curve of dicentric chromosomes as biomarker for medical dose estimation in response to radiation emergencies.

    Science.gov (United States)

    Al-Hadyan, Khaled; Elewisy, Sara; Moftah, Belal; Shoukri, Mohamed; Alzahrany, Awad; Alsbeih, Ghazi

    2014-12-01

    In cases of public or occupational radiation overexposure and eventual radiological accidents, it is important to provide dose assessment, medical triage, diagnoses and treatment to victims. Cytogenetic bio-dosimetry based on scoring of dicentric chromosomal aberrations assay (DCA) is the "gold standard" biotechnology technique for estimating medically relevant radiation doses. Under the auspices of the National Science, Technology and Innovation Plan in Saudi Arabia, we have set up a biodosimetry laboratory and produced a national standard dose-response calibration curve for DCA, pre-required to estimate the doses received. For this, the basic cytogenetic DCA technique needed to be established. Peripheral blood lymphocytes were collected from four healthy volunteers and irradiated with radiation doses between 0 and 5 Gy of 320 keV X-rays. Then, lymphocytes were PHA stimulated, Colcemid division arrested and stained cytogenetic slides were prepared. The Metafer4 system (MetaSystem) was used for automatic and manually assisted metaphase finding and scoring of dicentric chromosomes. Results were fit to the linear-quadratic dose-effect model according to the IAEA EPR-Biodosimetry-2011 report. The resulting manually assisted dose-response calibration curve (Y = 0.0017 + 0.026 × D + 0.081 × D(2)) was in the range of those described in other populations. Although the automated scoring over-and-under estimates DCA at low (2 Gy) doses, respectively, it showed potential for use in triage mode to segregate between victims with potential risk to develop acute radiotoxicity syndromes. In conclusion, we have successfully established the first biodosimetry laboratory in the region and have produced a preliminary national dose-response calibration curve. The laboratory can now contribute to the national preparedness plan in response to eventual radiation emergencies in addition to providing information for decision makers and public health officials who assess the

  7. Automating dicentric chromosome detection from cytogenetic biodosimetry data.

    Science.gov (United States)

    Rogan, Peter K; Li, Yanxin; Wickramasinghe, Asanka; Subasinghe, Akila; Caminsky, Natasha; Khan, Wahab; Samarabandu, Jagath; Wilkins, Ruth; Flegal, Farrah; Knoll, Joan H

    2014-06-01

    We present a prototype software system with sufficient capacity and speed to estimate radiation exposures in a mass casualty event by counting dicentric chromosomes (DCs) in metaphase cells from many individuals. Top-ranked metaphase cell images are segmented by classifying and defining chromosomes with an active contour gradient vector field (GVF) and by determining centromere locations along the centreline. The centreline is extracted by discrete curve evolution (DCE) skeleton branch pruning and curve interpolation. Centromere detection minimises the global width and DAPI-staining intensity profiles along the centreline. A second centromere is identified by reapplying this procedure after masking the first. Dicentrics can be identified from features that capture width and intensity profile characteristics as well as local shape features of the object contour at candidate pixel locations. The correct location of the centromere is also refined in chromosomes with sister chromatid separation. The overall algorithm has both high sensitivity (85 %) and specificity (94 %). Results are independent of the shape and structure of chromosomes in different cells, or the laboratory preparation protocol followed. The prototype software was recoded in C++/OpenCV; image processing was accelerated by data and task parallelisation with Message Passaging Interface and Intel Threading Building Blocks and an asynchronous non-blocking I/O strategy. Relative to a serial process, metaphase ranking, GVF and DCE are, respectively, 100 and 300-fold faster on an 8-core desktop and 64-core cluster computers. The software was then ported to a 1024-core supercomputer, which processed 200 metaphase images each from 1025 specimens in 1.4 h.

  8. Cytogenetic biodosimetry for Fukushima travelers after the nuclear power plant accident: no evidence of enhanced yield of dicentrics.

    Science.gov (United States)

    Lee, Jin Kyung; Han, Eun-Ae; Lee, Seung-Sook; Ha, Wi-Ho; Barquinero, Joan Francesc; Lee, Hyo Rak; Cho, Min Su

    2012-11-01

    Individuals who traveled to contaminated areas after the Fukushima nuclear accident have concerns about the health effects. However, medical follow-up for any adverse health effects will be difficult without personal dose measurements. Cytogenetic biodosimetry is a reasonable method of assessing absorbed doses retrospectively. We analyzed dicentric chromosomes for 265 Fukushima travelers, mostly journalists and rescue workers, who had been dispatched to northeastern Japan during the nuclear emergency. As a control group, 37 healthy volunteers who had not visited Japan since the accident were enrolled. Yields of dicentrics and absorbed doses calculated from a dose-response calibration curve for travelers and the control group were compared. The cut-off level for dicentric chromosomes in the controls was 3.5 per 1000 cells. Of the 265 travelers, 31 had elevated numbers of dicentrics (High-Dics group) while 234 were below the cut-off (Normal-Dics group). All but one of the individuals in the High-Dics group also reported a significantly higher number of medical exposures to radiation within the past three years compared with the Normal-Dics or control groups. The 225 travelers with no history of medical exposure showed no difference of dicentrics yield compared to the control group. Our data indicate that Fukushima travel alone did not enhance the yield of dicentrics.

  9. 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.

    Science.gov (United States)

    Rossnerova, Andrea; Spatova, Milada; Schunck, Christian; Sram, Radim J

    2011-01-01

    Automated image analysis scoring of micronuclei (MN) in cells can facilitate the objective and rapid measurement of genetic damage in mammalian and human cells. This approach was repeatedly developed and tested over the past two decades but none of the systems were sufficiently robust for routine analysis of MN until recently. New methodological, hardware and software developments have now allowed more advanced systems to become available. This mini-review presents the current stage of development and validation of the Metasystems Metafer MNScore system for automated image analysis scoring of MN in cytokinesis-blocked binucleated lymphocytes, which is the best-established method for studying MN formation in humans. The results and experience of users of this system from 2004 until today are reviewed in this paper. Significant achievements in the application of this method in research related to mutagen sensitivity phenotype in cancer risk, radiation biodosimetry and biomonitoring studies of air pollution (enriched by new data) are described. Advantages as well as limitations of automated image analysis in comparison with traditional visual analysis are discussed. The current increased use of the Metasystems Metafer MNScore system in various studies and the growing number of publications based on automated image analysis scoring of MN is promising for the ongoing and future application of this approach.

  10. Sample preparation and in situ hybridization techniques for automated molecular cytogenetic analysis of white blood cells

    Energy Technology Data Exchange (ETDEWEB)

    Rijke, F.M. van de; Vrolijk, H.; Sloos, W. [Leiden Univ. (Netherlands)] [and others

    1996-06-01

    With the advent in situ hybridization techniques for the analysis of chromosome copy number or structure in interphase cells, the diagnostic and prognostic potential of cytogenetics has been augmented considerably. In theory, the strategies for detection of cytogenetically aberrant cells by in situ hybridization are simple and straightforward. In practice, however, they are fallible, because false classification of hybridization spot number or patterns occurs. When a decision has to be made on molecular cytogenetic normalcy or abnormalcy of a cell sample, the problem of false classification becomes particularly prominent if the fraction of aberrant cells is relatively small. In such mosaic situations, often > 200 cells have to be evaluated to reach a statistical sound figure. The manual enumeration of in situ hybridization spots in many cells in many patient samples is tedious. Assistance in the evaluation process by automation of microscope functions and image analysis techniques is, therefore, strongly indicated. Next to research and development of microscope hardware, camera technology, and image analysis, the optimization of the specimen for the (semi)automated microscopic analysis is essential, since factors such as cell density, thickness, and overlap have dramatic influences on the speed and complexity of the analysis process. Here we describe experiments that have led to a protocol for blood cell specimen that results in microscope preparations that are well suited for automated molecular cytogenetic analysis. 13 refs., 4 figs., 1 tab.

  11. Interlaboratory variation in scoring dicentric chromosomes in a case of partial-body x-ray exposure: implications for biodosimetry networking and cytogenetic "triage mode" scoring.

    Science.gov (United States)

    Ainsbury, E A; Livingston, G K; Abbott, M G; Moquet, J E; Hone, P A; Jenkins, M S; Christensen, D M; Lloyd, D C; Rothkamm, K

    2009-12-01

    The international radiation biodosimetry community has recently been engaged in activities focused on establishing cooperative networks for biodosimetric triage for radiation emergency scenarios involving mass casualties. To this end, there have been several recent publications in the literature regarding the potential for shared scoring in such an accident or incident. We present details from a medical irradiation case where two independently validated laboratories found very different yields of dicentric chromosome aberrations. The potential reasons for this disparity are discussed, and the actual reason is identified as being the partial-body nature of the radiation exposure combined with differing criteria for metaphase selection. In the context of the recent networking activity, this report is intended to highlight the fact that shared scoring may produce inconsistencies and that further validation of the scoring protocols and experimental techniques may be required before the networks are prepared to deal satisfactorily with a radiological or nuclear emergency. Also, the findings presented here clearly demonstrate the limitations of the dicentric assay for estimating radiation doses after partial-body exposures and bring into question the usefulness of rapid "triage mode" scoring in such exposure scenarios.

  12. Biodosimetry Based on γ-H2AX Quantification and Cytogenetics after Partial- and Total-Body Irradiation during Fractionated Radiotherapy.

    Science.gov (United States)

    Zahnreich, Sebastian; Ebersberger, Anne; Kaina, Bernd; Schmidberger, Heinz

    2015-04-01

    The aim of this current study was to quantitatively describe radiation-induced DNA damage and its distribution in leukocytes of cancer patients after fractionated partial- or total-body radiotherapy. Specifically, the impact of exposed anatomic region and administered dose was investigated in breast and prostate cancer patients receiving partial-body radiotherapy. DNA double-strand breaks (DSBs) were quantified by γ-H2AX immunostaining. The frequency of unstable chromosomal aberrations in stimulated lymphocytes was also determined and compared with the frequency of DNA DSBs in the same samples. The frequency of radiation-induced DNA damage was converted into dose, using ex vivo generated calibration curves, and was then compared with the administered physical dose. This study showed that 0.5 h after partial-body radiotherapy the quantity of radiation-induced γ-H2AX foci increased linearly with the administered equivalent whole-body dose for both tumor entities. Foci frequencies dropped 1 day thereafter but proportionality to the equivalent whole-body dose was maintained. Conversely, the frequency of radiation-induced cytogenetic damage increased from 0.5 h to 1 day after the first partial-body exposure with a linear dependence on the administered equivalent whole-body dose, for prostate cancer patients only. Only γ-H2AX foci assessment immediately after partial-body radiotherapy was a reliable measure of the expected equivalent whole-body dose. Local tumor doses could be approximated with both assays after one day. After total-body radiotherapy satisfactory dose estimates were achieved with both assays up to 8 h after exposure. In conclusion, the quantification of radiation-induced γ-H2AX foci, but not cytogenetic damage in peripheral leukocytes was a sensitive and rapid biodosimeter after acute heterogeneous irradiation of partial body volumes that was able to primarily assess the absorbed equivalent whole-body dose.

  13. 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

    Energy Technology Data Exchange (ETDEWEB)

    Albanese, Joseph [Yale New Haven Health Center for Emergency Preparedness and Disaster Response, New Haven, CT 06510 (United States)], E-mail: Joseph.Albanese@ynhh.org; Martens, Kelly [Yale New Haven Health Center for Emergency Preparedness and Disaster Response, New Haven, CT 06510 (United States); Emergency Department, Yale-New Haven Hospital, New Haven, CT (United States); Arnold, Jeffrey L. [Emergency Department, Natividad Medical Center, Salinas, CA (United States); Kelley, Katherine [Connecticut Department of Public Health, Hartford, CT (United States); Kristie, Virginia [Hartford Hospital, Hartford, CT (United States); Forte, Elaine; Schneider, Mark [Yale New Haven Health Center for Emergency Preparedness and Disaster Response, New Haven, CT 06510 (United States); Dainiak, Nicholas [Yale New Haven Health Center for Emergency Preparedness and Disaster Response, New Haven, CT 06510 (United States); Department of Medicine, Bridgeport Hospital, Bridgeport, CT (United States); Yale University School of Medicine, New Haven, CT (United States)

    2007-07-15

    used to 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.

  14. WHO 1st Consultation on the Development of a Global Biodosimetry Laboratories Network for Radiation Emergencies (BioDoseNet). Meeting Report

    Science.gov (United States)

    2009-01-01

    chromosome aberration cytogenetic bio- assay using the ‘‘gold standard’’ dicentric assay for dose assessment, bioassay sampling, if appropriate, to...cytogenetic bioassay (i.e., metaphase-spread dicentric assay). Few regional cytogenetic biodosimetry networks have been established so far. The roles and...cytogenetic triage’ of mass casualties in radiological or nuclear emergencies—General principles and application to Dicentric Assay’’ (draft ISO Standard

  15. 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

  16. Retrospective Biodosimetry of an Occupational Overexposure-Case Study.

    Science.gov (United States)

    Beaton-Green, L A; Barr, T; Ainsbury, E A; Wilkins, R C

    2016-12-01

    In 2014, Health Canada was approached by the Canadian Nuclear Safety Commission to conduct biodosimetry for a possible overexposure 4 y prior to assessment. Dose estimates were determined by means of two cytogenetic assays, the dicentric chromosome assay (DCA) and translocations as measured by the fluorescent in situ hybridization (FISH). As dicentrics are considered to be unstable over time, the results of the DCA were adjusted to account for the time elapsed between the suspected exposure and sampling. The frequency of damage was then compared to Health Canada's calibration curves, respectively, to calculate dose. In addition, the translocation data were corrected for age-related increases in background. With a half-life of 36 months for dicentric chromosomes taken into consideration, the dose estimates from both assays were in agreement. Due to the uncertainty in the half-life of dicentrics, the FISH assay is considered to be more reliable as a technique for retrospective biodosimetry.

  17. 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...

  18. Canadian biodosimetry capacity for response to radiation emergencies

    Energy Technology Data Exchange (ETDEWEB)

    Wilkinson, D. [Defense Research and Development Canada-Ottawa, 3701 Carling Avenue, Ottawa, Ont., K1A 0Z4 (Canada)], E-mail: diana.wilkinson@drdc-rddc.gc.ca; Segura, T.; Prud' homme-Lalonde, L.; Mullins, D.; Lachapelle, S. [Defense Research and Development Canada-Ottawa, 3701 Carling Avenue, Ottawa, Ont., K1A 0Z4 (Canada); Qutob, S.; Thorleifson, E.; Wilkins, R. [Consumer and Clinical Radiation Protection Bureau, 775 Brookfield Road, PL6303B Health Canada, Ottawa, Ont., K1A 1C1 (Canada); Morrison, D. [Atomic Energy of Canada Limited, Chalk River, Ont. (Canada); Dolling, J.-A. [Genetics Department, Credit Valley Hospital, 2200 Eglinton Avenue West, Mississauga, Ont., L8S 4L8 (Canada); Boreham, D. [McMaster Institute of Applied Radiation Sciences, McMaster University, 1280 Main Street West, Hamilton, Ont., L5M 2N1 (Canada)

    2007-07-15

    In December 2001, Canada's response to the international political climate was launched by the creation of the Chemical, Biological, Radiological/Nuclear Research and Technology Initiative (CRTI). The National Biological Dosimetry Response Plan (NBDRP), established through partnering the expertise of three federal departments and one university, was created in response to this initiative. The NBDRP objectives were to develop a network of laboratories with expertise to perform biological dosimetry by cytogenetics and to investigate new technologies that may be applicable in the development of the new biodosimetry program. Since the creation of the NBDRP, Canada has made significant progress in enhancing expertise and resources to be better prepared for radiological/nuclear events. Through participation in exercises, the existing capacities were tested and recommendations for improvements were made. This paper describes the results from two exercises. The first exercise was designed to test the culturing, analysis, and reporting procedures within a single laboratory, and the second exercise was intended to test the capacity of the NBDRP. Future exercises will further challenge the network resulting in an improved national response capability.

  19. 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.

  20. Veterinary cytogenetics: past and perspective.

    Science.gov (United States)

    Basrur, P K; Stranzinger, G

    2008-01-01

    Cytogenetics was conceived in the late 1800s and nurtured through the early 1900s by discoveries pointing to the chromosomal basis of inheritance. The relevance of chromosomes to human health and disease was realized more than half a century later when improvements in techniques facilitated unequivocal chromosome delineation. Veterinary cytogenetics has benefited from the information generated in human cytogenetics which, in turn, owes its theoretical and technical advancement to data gathered from plants, insects and laboratory mammals. The scope of this science has moved from the structure and number of chromosomes to molecular cytogenetics for use in research or for diagnostic and prognostic purposes including comparative genomic hybridization arrays, single nucleotide polymorphism array-based karyotyping and automated systems for counting the results of standard FISH preparations. Even though the counterparts to a variety of human diseases and disorders are seen in domestic animals, clinical applications of veterinary cytogenetics will be less well exploited mainly because of the cost-driven nature of demand on diagnosis and treatment which often out-weigh emotional and sentimental attachments. An area where the potential of veterinary cytogenetics will be fully exploited is reproduction since an inherited aberration that impacts on reproductive efficiency can compromise the success achieved over the years in animal breeding. It is gratifying to note that such aberrations can now be tracked and tackled using sophisticated cytogenetic tools already commercially available for RNA expression analysis, chromatin immunoprecipitation, or comparative genomic hybridization using custom-made microarray platforms that allow the construction of microarrays that match veterinary cytogenetic needs, be it for research or for clinical applications. Judging from the technical refinements already accomplished in veterinary cytogenetics since the 1960s, it is clear that the

  1. Analysis of chromosome damage for biodosimetry using imaging flow cytometry.

    Science.gov (United States)

    Beaton, L A; Ferrarotto, C; Kutzner, B C; McNamee, J P; Bellier, P V; Wilkins, R C

    2013-08-30

    The dicentric chromosome assay (DCA), which involves counting the frequency of dicentric chromosomes in mitotic lymphocytes and converting it to a dose-estimation for ionizing radiation exposure, is considered to be the gold standard for radiation biodosimetry. Furthermore, for emergency response, the DCA has been adapted for triage by simplifying the scoring method [1]. With the development of new technologies such as the imaging flow cytometer, it may now be possible to adapt this microscope-based method to an automated cytometry method. This technology allows the sensitivity of microscopy to be maintained while adding the increased throughput of flow cytometry. A new protocol is being developed to adapt the DCA to the imaging cytometer in order to further increase the rapid determination of a biological dose. Peripheral blood mononuclear cells (PBMC) were isolated from ex vivo irradiated whole blood samples using a density gradient separation method and cultured with PHA and Colcemid. After 48h incubation, the chromosomes were isolated, stained for DNA content with propidium iodide (PI) and labelled with a centromere marker. Stained chromosomes were then analyzed on the ImageStream(×) (EMD-Millipore, Billerica, MA). Preliminary results indicate that individual chromosomes can be identified and mono- and dicentric chromosomes can be differentiated by imaging cytometry. A dose response curve was generated using this technology. The details of the method and the dose response curve are presented and compared to traditional microscope scoring. Imaging cytometry is a new technology which enables the rapid, automated analysis of fluorescently labelled chromosomes. Adapting the dicentric assay to this technology has the potential for high throughput analysis for mass casualty events.

  2. Clinical cytogenetics and molecular cytogenetics

    Institute of Scientific and Technical Information of China (English)

    LI Marilyn; PINKEL Daniel

    2006-01-01

    The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.

  3. Clinical cytogenetics and molecular cytogenetics.

    Science.gov (United States)

    Li, Marilyn; Pinkel, Daniel

    2006-02-01

    The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.

  4. Clinical cytogenetics and molecular cytogenetics*

    OpenAIRE

    2006-01-01

    The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.

  5. Molecular cytogenetics.

    Science.gov (United States)

    Carpenter, N J

    2001-09-01

    In the past decade, clinical cytogenetics has undergone remarkable advancement as molecular biology techniques have been applied to conventional chromosome analysis. The limitations of conventional banding analysis in the accurate diagnosis and interpretation of certain chromosome abnormalities have largely been overcome by these new technologies, which include fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), and multicolor FISH (M-FISH, SKY, and Rx-FISH). Clinical applications include diagnosis of microdeletion and microduplication syndromes, detection of subtelomeric rearrangements in idiopathic mental retardation, identification of marker and derivative chromosomes, prenatal diagnosis of trisomy syndromes, and gene rearrangements and gene amplification in tumors. Molecular cytogenetic methods have expanded the possibilities for precise genetic diagnoses, which are extremely important for clinical management of patients and appropriate counseling of their families.

  6. Cytogenetic examination

    OpenAIRE

    2015-01-01

    Cytogenetic examination on six normal persons, four men and two women, was carried out using a technique proposed by Dutrillaux with slight modification. Five drops of blood were taken from a peripheral vessel and was incubated on a PHA (phytohemarglutinine)-containing medium at 37°C for about 72 hours. Cell division was blocked by adding colchicine solution, an antimitotic agent, into this medium. A mixture of distilled water, magnesium chloride, hyaluronidase, and goat serum was used as hy...

  7. RABiT-II: Implementation of a High-Throughput Micronucleus Biodosimetry Assay on Commercial Biotech Robotic Systems.

    Science.gov (United States)

    Repin, Mikhail; Pampou, Sergey; Karan, Charles; Brenner, David J; Garty, Guy

    2017-02-23

    We demonstrate the use of high-throughput biodosimetry platforms based on commercial high-throughput/high-content screening robotic systems. The cytokinesis-block micronucleus (CBMN) assay, using only 20 μl whole blood from a fingerstick, was implemented on a PerkinElmer cell::explorer and General Electric IN Cell Analyzer 2000. On average 500 binucleated cells per sample were detected by our FluorQuantMN software. A calibration curve was generated in the radiation dose range up to 5.0 Gy using the data from 8 donors and 48,083 binucleated cells in total. The study described here demonstrates that high-throughput radiation biodosimetry is practical using current commercial high-throughput/high-content screening robotic systems, which can be readily programmed to perform and analyze robotics-optimized cytogenetic assays. Application to other commercial high-throughput/high-content screening systems beyond the ones used in this study is clearly practical. This approach will allow much wider access to high-throughput biodosimetric screening for large-scale radiological incidents than is currently available.

  8. Quickscan dicentric chromosome analysis for radiation biodosimetry.

    Science.gov (United States)

    Flegal, F N; Devantier, Y; McNamee, J P; Wilkins, R C

    2010-02-01

    The dicentric chromosome assay (DCA) is the gold-standard assay for accurately estimating unknown radiological doses to individuals following radiological or nuclear accidents. However in a mass-casualty scenario, this assay is not well suited for providing timely dose estimates due to its time- and expertise-intensive nature. In Canada, two approaches are being developed in an attempt to increase triage-quality biological dosimetry throughput. These are 1) increasing the number of trained personnel capable of conducting the DCA, and 2) evaluating alternative biodosimetry approaches or DCA variations. In a recent exercise, a new scoring technique (termed DCA QuickScan) was evaluated as an alternative rapid-scoring approach. Triage-quality conventional DCA and DCA QuickScan analysis were based upon scoring a minimum of 50 metaphase cells or 30 dicentrics by 9-15 scorers across four laboratories. Dose estimates for the conventional DCA were found to be within 0.5 Gy of the actual dose for 83% of the unknown samples, while DCA QuickScan dose estimates were within 0.5 Gy for 80% of the samples. Of the dose estimates falling 0.5 Gy or more outside the actual dose, the majority were dose over-estimates. It was concluded that the DCA QuickScan approach can provide critical dose information at a much faster rate than the conventional DCA without sacrificing accuracy. Future studies will further evaluate the accuracy of the DCA QuickScan method.

  9. Dose estimation using dicentric chromosome assay and cytokinesis block micronucleus assay: comparison between manual and automated scoring in triage mode.

    Science.gov (United States)

    De Amicis, Andrea; De Sanctis, Stefania; Di Cristofaro, Sara; Franchini, Valeria; Regalbuto, Elisa; Mammana, Giacomo; Lista, Florigio

    2014-06-01

    In cases of an accidental overexposure to ionizing radiation, it is essential to estimate the individual absorbed dose of a potentially radiation-exposed person. For this purpose, biological dosimetry can be performed to confirm, complement or even replace physical dosimetry when this proves to be unavailable. The most validated biodosimetry techniques for dose estimation are the dicentric chromosome assay, the "gold standard" for individual dose assessment, and cytokinesis-block micronucleus assay. However, both assays are time consuming and require skilled scorers. In case of large-scale accidents, different strategies have been developed to increase the throughput of cytogenetic service laboratories. These are the decrease of cell numbers to be scored for triage dosimetry; the automation of procedures including the scoring of, for example, aberrant chromosomes and micronuclei; and the establishment of laboratory networks in order to enable mutual assistance if necessary. In this study, the authors compared the accuracy of triage mode biodosimetry by dicentric chromosome analysis and the cytokinesis block micronucleus assay performing both the manual and the automated scoring mode. For dose estimation using dicentric chromosome assay of 10 blind samples irradiated up to 6.4 Gy of x-rays, a number of metaphase spreads were analyzed ranging from 20 up to 50 cells for the manual and from 20 up to 500 cells for the automatic scoring mode. For dose estimation based on the cytokinesis block micronucleus assay, the micronucleus frequency in both 100 and 200 binucleated cells was determined by manual and automatic scoring. The results of both assays and scoring modes were compared and analyzed considering the sensitivity, specificity, and accuracy of dose estimation with regard to the discrimination power of clinically relevant binary categories of exposure doses.

  10. Methodologies in cancer cytogenetics and molecular cytogenetics.

    Science.gov (United States)

    Wang, Nancy

    2002-10-30

    Various types of cytogenetic and molecular cytogenetic approaches, including conventional banding, fluorescence in situ hybridization (FISH), fiber-FISH, comparative genomic hybridization (CGH), matrix array CGH, chromosome microdissection, and microcell-mediated chromosome transfer are summarized. The rationale, advantage, and limitations of each approach are discussed with respect to research and clinical applications in human neoplasia.

  11. 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.

  12. 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

  13. The history of human cytogenetics in India-A review.

    Science.gov (United States)

    Dutta, Usha R

    2016-09-10

    It is 60years since the discovery of the correct number of chromosomes in 1956; the field of cytogenetics had evolved. The late evolution of this field with respect to other fields is primarily due to the underdevelopment of lenses and imaging techniques. With the advent of the new technologies, especially automation and evolution of advanced compound microscopes, cytogenetics drastically leaped further to greater heights. This review describes the historic events that had led to the development of human cytogenetics with a special attention about the history of cytogenetics in India, its present status, and future. Apparently, this review provides a brief account into the insights of the early laboratory establishments, funding, and the German collaborations. The details of the Indian cytogeneticists establishing their labs, promoting the field, and offering the chromosomal diagnostic services are described. The detailed study of chromosomes helps in increasing the knowledge of the chromosome structure and function. The delineation of the chromosomal rearrangements using cytogenetics and molecular cytogenetic techniques pays way in identifying the molecular mechanisms involved in the chromosomal rearrangement. Although molecular cytogenetics is greatly developing, the conventional cytogenetics still remains the gold standard in the diagnosis of various numerical chromosomal aberrations and a few structural aberrations. The history of cytogenetics and its importance even in the era of molecular cytogenetics are discussed.

  14. Some difficult choices in cytogenetics.

    Science.gov (United States)

    Swansbury, John

    2003-01-01

    In making a selection of features of these technologies, it is inevitable that some will be omitted that other cytogeneticists feel should have been included. The author could probably justifiably be accused of bias. However, based on experience in a laboratory that has used almost every type of assay mentioned in this chapter, the following opinions are offered about their current value in providing a routine malignancy cytogenetics service: 1. The foundation is still a conventional cytogenetic study, preferably with the use of an automated karyotyping system. 2. Added to this, there should be the capability of performing FISH studies using chromosome paints and gene-specific probes. Cytogenetics and FISH form a powerful partnership when backed by experienced cytogeneticists. MFISH or SKY are also useful if the laboratory can afford the considerable extra expense. CGH and fibre FISH are generally better suited to research projects, and at present have few applications in a routine diagnostics service. 3. At present, molecular methods such as RT-PCR mostly tend to produce results that have a greater need of confirmation by other techniques before they can be used for clinical management.

  15. Overview of clinical cytogenetics.

    Science.gov (United States)

    Korf, B R

    2001-08-01

    This unit provides an introduction to clinical cytogenetics. It opens with indications for prenatal and postnatal chromosome analysis, followed by a brief discussion of the applications of fluorescence in situ hybridization (FISH). It suggests tissue sources for prenatal and postnatal analysis, and closes with a review of numerical and structural chromosome abnormalities. This unit provides an introduction to clinical cytogenetics.

  16. Molecular cytogenetics in reproductive pathology.

    Science.gov (United States)

    Bruyère, Hélène; Rajcan-Separovic, Evica; Kalousek, Dagmar K

    2002-01-01

    This chapter presents the summary of two molecular cytogenetic techniques--FISH and CGH--with their applications and limitations in the studies of pregnancy loss. These molecular techniques clearly represent a significant advantage over the traditional cytogenetic technique and likely will become the predominant cytogenetic techniques in reproductive cytogenetics of the future.

  17. Strong Correlation among Three Biodosimetry Techniques Following Exposures to Ionizing Radiation

    Science.gov (United States)

    Kang, Chang-Mo; Yun, Hyun Jin; Kim, Hanna; Kim, Cha Soon

    2016-01-01

    Three in vitro dose calibration curves for biodosimetry such as dicentric chromosome assay, fluorescence in situ hybridization (FISH) assay for translocation, and micronuclei (MNs) in binucleated cell assay were established after exposure to ionizing radiation. Peripheral blood lymphocyte samples obtained from healthy donors were irradiated with 60Co source at a dose rate of 0.5 Gy/min to doses of 0.1–6 Gy. The results from three in vitro dose calibration curves for biodosimetry were analyzed to understand the relationship among biodosimetry assay techniques. Our comparison demonstrates that there is a very strong positive correlation among the dicentric assay, FISH, and MNs analysis, and these three biodosimetry assays strongly support the in vitro dose reconstruction and the emergency preparedness of public or occupational radiation overexposure. PMID:28217287

  18. 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

  19. 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.

  20. Cytogenetics in animal production

    OpenAIRE

    2010-01-01

    Cytogenetics applied to domestic animals is a useful biotechnology to be applied in the genetic improvement of livestock. Indeed, it can be used to select reproducers free chromosome abnormalities which are responsible for abnormal body conformation (aneuploidy), lower fertility (balanced chromosome abnormalities) or sterility (sex chromosome abnormalities). Cytogenetics may also be applied to assess environmental pollution by studying animals living in hazardous areas and using them as biolo...

  1. Evaluating the Special Needs of The Military for Radiation Biodosimetry for Tactical Warfare Against Deployed Troops: Comparing Military to Civilian Needs for Biodosimetry Methods.

    Science.gov (United States)

    Flood, Ann Barry; Ali, Arif N; Boyle, Holly K; Du, Gaixin; Satinsky, Victoria A; Swarts, Steven G; Williams, Benjamin B; Demidenko, Eugene; Schreiber, Wilson; Swartz, Harold M

    2016-08-01

    The aim of this paper is to delineate characteristics of biodosimetry most suitable for assessing individuals who have potentially been exposed to significant radiation from a nuclear device explosion when the primary population targeted by the explosion and needing rapid assessment for triage is civilians vs. deployed military personnel. The authors first carry out a systematic analysis of the requirements for biodosimetry to meet the military's needs to assess deployed troops in a warfare situation, which include accomplishing the military mission. Then the military's special capabilities to respond and carry out biodosimetry for deployed troops in warfare are compared and contrasted systematically, in contrast to those available to respond and conduct biodosimetry for civilians who have been targeted by terrorists, for example. Then the effectiveness of different biodosimetry methods to address military vs. civilian needs and capabilities in these scenarios was compared and, using five representative types of biodosimetry with sufficient published data to be useful for the simulations, the number of individuals are estimated who could be assessed by military vs. civilian responders within the timeframe needed for triage decisions. Analyses based on these scenarios indicate that, in comparison to responses for a civilian population, a wartime military response for deployed troops has both more complex requirements for and greater capabilities to use different types of biodosimetry to evaluate radiation exposure in a very short timeframe after the exposure occurs. Greater complexity for the deployed military is based on factors such as a greater likelihood of partial or whole body exposure, conditions that include exposure to neutrons, and a greater likelihood of combined injury. These simulations showed, for both the military and civilian response, that a very fast rate of initiating the processing (24,000 d) is needed to have at least some methods capable of

  2. Assessment of the Technologies for Molecular Biodosimetry for Human Low-Dose Radiation Exposure Symposium

    Energy Technology Data Exchange (ETDEWEB)

    Matthew A. Coleman Ph.D.; Narayani Ramakrishnan, Ph.D.; Sally A. Amundson; James D. Tucker, Ph.D.; Stephen D. Dertinger, Ph.D.; Natalia I. Ossetrova, Ph.D.; Tao Chen

    2009-11-16

    Exposure to ionizing radiation produces few immediate outwardly-visible clinical signs, yet, depending on dose, can severely damage vital physiological functions within days to weeks and produce long-lasting health consequences among survivors. In the event of a radiological accident, the rapid evaluation of the individual absorbed dose is paramount to discriminate the worried but unharmed from those individuals who must receive medical attention. Physical, clinical and biological dosimetry are usually combined for the best dose assessment. However, because of the practical limits of physical and clinical dosimetry, many attempts have been made to develop a dosimetry system based on changes in biological parameters, including techniques for hematology, biochemistry, immunology, cytogenetics, etc. Lymphocyte counts and chromosome aberrations analyses are among the methods that have been routinely used for estimating radiation dose. However, these assays require several days to a week to be completed and therefore cannot be used to obtain a fast estimate of the dose during the first few days after exposure when the information would be most critical for identifying victims of radiation accidents who could benefit the most by medical intervention. The steadily increasing sophistication in our understanding of the early biochemical responses of irradiated cells and tissues provides the opportunity for developing mechanism-based biosignatures of exposure. Compelling breakthroughs have been made in the technologies for genome-scale analysis of cellular transcriptional and proteomic profiles. There have also been major strides in the mechanistic understanding of the early events in DNA damage and radiation damage products, as well as in the cellular pathways that lead to radiation injury. New research with genomic- and proteomic-wide tools is showing that within minutes to hours after exposure to ionizing radiation protein machines are modified and activated, and large

  3. The Application of Imaging Flow Cytometry to High-Throughput Biodosimetry

    Science.gov (United States)

    Wilkins, Ruth C.; Rodrigues, Matthew A.; Beaton-Green, Lindsay A.

    2017-01-01

    Biodosimetry methods, including the dicentric chromosome assay, the cytokinesis-block micronucleus assay and the γH2AX marker of DNA damage are used to determine the dose of ionizing radiation. These techniques are particularly useful when physical dosimetry is absent or questioned. While these assays can be very sensitive and specific, the standard methods need to be adapted to increase sample throughput in the case of a large-scale radiological/nuclear event. Recent modifications to the microscope-based assays have resulted in some increased throughput, and a number of biodosimetry networks have been, and continue to be, established and strengthened. As the imaging flow cytometer (IFC) is a technology that can automatically image and analyze processed blood samples for markers of radiation damage, the microscope-based biodosimetry techniques can be modified for the IFC for high-throughput biological dosimetry. Furthermore, the analysis templates can be easily shared between networked biodosimetry laboratories for increased capacity and improved standardization. This review describes recent advances in IFC methodology and their application to biodosimetry. PMID:28250914

  4. Classical cytogenetics: karyotyping techniques.

    Science.gov (United States)

    Bates, Steven E

    2011-01-01

    Classical cytogenetics by karyotyping has been utilized in clinical research laboratories for more than 50 years and remains the key method used in the stem cell laboratory to assess the genetic stability of stem cell cultures. It is currently the most readily accessible method for detecting chromosomal abnormalities in pluripotent stem cell cultures. This chapter will describe (1) how to prepare a culture to maximize the number of metaphase cells, (2) how to prepare slides containing chromosome spreads (3) methods used to stain chromosomes, and (4) how to interpret the cytogenetic report.

  5. Cytogenetic studies of blood lymphocytes from cosmonauts after long-term space flights on MIR station

    Science.gov (United States)

    Fedorenko, B.; Druzhinin, S.; Yudaeva, L.; Petrov, V.; Akatov, Yu.; Snigiryova, G.; Novitskaya, N.; Shevchenko, V.; Rubanovich, A.

    Long-term space missions may increase risks of unfavorable consequences for cosmonauts as a result of radiation effects. This paper presents results of a study of cytogenetic damage in cosmonauts' peripheral blood lymphocytes induced by space radiation. Cultivation of lymphocytes and analysis of chromosomal aberrations were made according to generally accepted methods. It is shown that the yields of dicentrics and centric rings scored after long-term space flights are considerably higher than those scored prior to the flights. An attempt was made to assess individual doses received by cosmonauts. Individual biodosimetry doses received by cosmonauts who showed a reliable increase in the yields of chromosomal-type aberrations after their first flights were estimated to be from 0.02 to 0.28 Gy.

  6. Cancer cytogenetics: methodology revisited.

    Science.gov (United States)

    Wan, Thomas S K

    2014-11-01

    The Philadelphia chromosome was the first genetic abnormality discovered in cancer (in 1960), and it was found to be consistently associated with CML. The description of the Philadelphia chromosome ushered in a new era in the field of cancer cytogenetics. Accumulating genetic data have been shown to be intimately associated with the diagnosis and prognosis of neoplasms; thus, karyotyping is now considered a mandatory investigation for all newly diagnosed leukemias. The development of FISH in the 1980s overcame many of the drawbacks of assessing the genetic alterations in cancer cells by karyotyping. Karyotyping of cancer cells remains the gold standard since it provides a global analysis of the abnormalities in the entire genome of a single cell. However, subsequent methodological advances in molecular cytogenetics based on the principle of FISH that were initiated in the early 1990s have greatly enhanced the efficiency and accuracy of karyotype analysis by marrying conventional cytogenetics with molecular technologies. In this review, the development, current utilization, and technical pitfalls of both the conventional and molecular cytogenetics approaches used for cancer diagnosis over the past five decades will be discussed.

  7. Cytogenetics in animal production

    Directory of Open Access Journals (Sweden)

    L. Iannuzzi

    2010-04-01

    Full Text Available Cytogenetics applied to domestic animals is a useful biotechnology to be applied in the genetic improvement of livestock. Indeed, it can be used to select reproducers free chromosome abnormalities which are responsible for abnormal body conformation (aneuploidy, lower fertility (balanced chromosome abnormalities or sterility (sex chromosome abnormalities. Cytogenetics may also be applied to assess environmental pollution by studying animals living in hazardous areas and using them as biological indicators (sentinels. Chromosomes also represent optimal biological structures to study the evolution among related (bovids and unrelated (bovidshumans species, especially using comparative FISH-mapping which is one of the most powerful tools to establish the correct order of loci along chromosomes. These comparisons allow us to transfer useful information from richer genomes (human to those of domestic animals. Moreover, the use of specific molecular markers and the FISH-technique on both mitotic and extended (fiber-FISH chromosomes, has heralded a new era of cytogenetics, allowing swift extension of genetic physical maps, better anchoring of both linkage and RH-maps to specific chromosome regions, and use in a variety of applications (clinical cases, embryo and sperm analyses, evolution. In this study a brief review of these fields of the animal cytogenetics is presented.

  8. BiodosEPR-2006 Meeting: Acute dosimetry consensus committee recommendations on biodosimetry applications in events involving uses of radiation by terrorists and radiation accidents

    Energy Technology Data Exchange (ETDEWEB)

    Alexander, George A. [U.S. Department of Health and Human Services, Office of Preparedness and Emergency Operations, 200 Independence Avenue, SW, Room 403B-1, Washington, DC 20201 (United States); Swartz, Harold M. [Dept. of Radiology and Physiology Dept., Dartmouth Medical School, HB 7785, Vail 702, Rubin 601, Hanover, NH 03755 (United States); Amundson, Sally A. [Center for Radiological Research, Columbia University Medical Center, 630 W. 168th Street, VC11-215, New York, NY 10032 (United States); Blakely, William F. [Armed Forces Radiobiology Research Inst., 8901 Wisconsin Avenue, Bethesda, MD 20889-5603 (United States)], E-mail: blakely@afrri.usuhs.mil; Buddemeier, Brooke [Science and Technology, U.S. Department of Homeland Security, Washington, DC 20528 (United States); Gallez, Bernard [Biomedical Magnetic Resonance Unit and Lab. of Medicinal Chemistry and Radiopharmacy, Univ. Catholique de Louvain, Brussels (Belgium); Dainiak, Nicholas [Dept. of Medicine, Bridgeport Hospital, 267 Grant Street, Bridgeport, CT 06610 (United States); Goans, Ronald E. [MJW Corporation, 1422 Eagle Bend Drive, Clinton, TN 37716-4029 (United States); Hayes, Robert B. [Remote Sensing Lab., MS RSL-47, P.O. Box 98421, Las Vegas, NV 89193 (United States); Lowry, Patrick C. [Radiation Emergency Assistance Center/Training Site (REAC/TS), Oak Ridge Associated Universities, P.O. Box 117, Oak Ridge, TN 37831-0117 (United States); Noska, Michael A. [Food and Drug Administration, FDA/CDRH, 1350 Piccard Drive, HFZ-240, Rockville, MD 20850 (United States); Okunieff, Paul [Dept. of Radiation Oncology (Box 647), Univ. of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 (United States); Salner, Andrew L. [Helen and Harry Gray Cancer Center, Hartford Hospital, 80 Seymour Street, Hartford, CT 06102 (United States); Schauer, David A. [National Council on Radiation Protection and Measurements, 7910 Woodmont Avenue, Suite 400, Bethesda, MD 20814-3095 (United States)] (and others)

    2007-07-15

    , USA; NCRP, 2005. Key elements of preparing emergency responders for nuclear and radiological terrorism. NCRP Commentary No. 19, Bethesda, Maryland, USA] and international [IAEA, 2005. Generic procedures for medical response during a nuclear or radiological emergency. EPR-Medical 2005, IAEA, Vienna, Austria] agencies have reviewed strategies for acute-phase biodosimetry. Consensus biodosimetric guidelines include: (a) clinical signs and symptoms, including peripheral blood counts, time to onset of nausea and vomiting and presence of impaired cognition and neurological deficits, (b) radioactivity assessment, (c) personal and area dosimetry, (d) cytogenetics, (e) in vivo electron paramagnetic resonance (EPR) and (f) other dosimetry approaches (i.e. blood protein assays, etc.). Emerging biodosimetric technologies may further refine triage and dose assessment strategies. However, guidance is needed regarding which biodosimetry techniques are most useful for different radiological scenarios and consensus protocols must be developed. The Local Organizing Committee for the Second International Conference on Biodosimetry and Seventh International Symposium on EPR Dosimetry and Applications (BiodosEPR-2006 Meeting) convened an Acute Dosimetry Consensus Committee composed of national and international experts to: (a) review the current literature for biodosimetry applications for acute-phase applications in radiological emergencies, (b) describe the strengths and weaknesses of each technique, (c) provide recommendations for the use of biodosimetry assays for selected defined radiation scenarios, and (d) develop protocols to apply these recommended biological dosimetry techniques with currently available supplies and equipment for first responders. The Acute Dosimetry Consensus Committee developed recommendations for use of a prioritized multiple-assay biodosimetric-based strategy, concluding that no single assay is sufficiently robust to address all of the potential radiation

  9. New methods in cytogenetics.

    Science.gov (United States)

    Buckle, V J; Kearney, L

    1994-06-01

    Developments in the technique of fluorescence in situ hybridization (FISH) now permit hybridization of sequences ranging from 1 kb to whole genomes. The technique can be used in applications from coarse mapping of whole chromosomes to high-resolution analysis of extended strands of DNA. The complexity, and hence the coverage, of 'paints' prepared by amplification is being improved to the extent that such methods are used in cloning strategies for the generation of region-specific probes. Interphase analysis and comparative genomic hybridization are becoming important tools in cancer cytogenetics, and the potential for routine analysis of fetal cells obtained from maternal blood may provide a fresh approach to prenatal cytogenetic screening. Functional studies of gene activity and nuclear organization are now also possible.

  10. 77 FR 41417 - Regulatory Science Considerations for Medical Countermeasure Radiation Biodosimetry Devices

    Science.gov (United States)

    2012-07-13

    ... performance evaluation challenges identified by FDA, (3) specific technology considerations in radiation... radiation biodosimeter be assessed? G. What challenges does the use of novel technologies bring to radiation... Radiation Biodosimetry Devices AGENCY: Food and Drug Administration, HHS. ACTION: Notice of public...

  11. Plant cytogenetics in genome databases

    Science.gov (United States)

    Cytogenetic maps provide an integrated representation of genetic and cytological information that can be used to enhance genome and chromosome research. As genome analysis technologies become more affordable, the density of markers on cytogenetic maps increases, making these resources more useful a...

  12. Recent patents on molecular cytogenetics.

    Science.gov (United States)

    Iourov, Ivan Y; Vorsanova, Svetlana G; Yurov, Yuri B

    2008-01-01

    The questions surrounding patenting of DNA sequences encoding specific proteins are relatively well reviewed in the available literature. However, neither applications nor molecular cytogenetic techniques, which use these sequences as a probe, have been reviewed in the light of the patenting. Furthermore, the patenting of the use of numerous probes, which are produced on different types of repetitive genome elements (i.e. satellite DNA or telomeric DNA sequences) and those generated by chromosome microdissection has not been reviewed. Molecular cytogenetic techniques are one of the most applied in current bioscience (as to June 2007, over 40,000 papers in browseable scientific databases mention one or several molecular cytogenetic techniques). Therefore, reviewing recent patents in this field is of general interest for numerous researchers in different areas of biology and medicine. Here, we address world-wide patents on DNA sequences used as molecular cytogenetic probes and molecular cytogenetic techniques to define current state and perspectives of this biomedical direction.

  13. Evolutionary cytogenetics in salamanders.

    Science.gov (United States)

    Sessions, Stanley K

    2008-01-01

    Salamanders (Amphibia: Caudata/Urodela) have been the subject of numerous cytogenetic studies, and data on karyotypes and genome sizes are available for most groups. Salamanders show a more-or-less distinct dichotomy between families with large chromosome numbers and interspecific variation in chromosome number, relative size, and shape (i.e. position of the centromere), and those that exhibit very little variation in these karyological features. This dichotomy is the basis of a major model of karyotype evolution in salamanders involving a kind of 'karyotypic orthoselection'. Salamanders are also characterized by extremely large genomes (in terms of absolute mass of nuclear DNA) and extensive variation in genome size (and overall size of the chromosomes), which transcends variation in chromosome number and shape. The biological significance and evolution of chromosome number and shape within the karyotype is not yet understood, but genome size variation has been found to have strong phenotypic, biogeographic, and phylogenetic correlates that reveal information about the biological significance of this cytogenetic variable. Urodeles also present the advantage of only 10 families and less than 600 species, which facilitates the analysis of patterns within the entire order. The purpose of this review is to present a summary of what is currently known about overall patterns of variation in karyology and genome size in salamanders. These patterns are discussed within an evolutionary context.

  14. Assessing the applicability of FISH-based prematurely condensed dicentric chromosome assay in triage biodosimetry.

    Science.gov (United States)

    Suto, Yumiko; Gotoh, Takaya; Noda, Takashi; Akiyama, Miho; Owaki, Makiko; Darroudi, Firouz; Hirai, Momoki

    2015-03-01

    The dicentric chromosome assay (DCA) has been regarded as the gold standard of radiation biodosimetry. The assay, however, requires a 2-d peripheral blood lymphocyte culture before starting metaphase chromosome analyses to estimate biological doses. Other biological assays also have drawbacks with respect to the time needed to obtain dose estimates for rapid decision on the correct line of medical treatment. Therefore, alternative technologies that suit requirements for triage biodosimetry are needed. Radiation-induced DNA double strand breaks in G0 lymphocytes can be detected as interphase chromosome aberrations by the cell fusion-mediated premature chromosome condensation (PCC) method. The method, in combination with fluorescence in situ hybridization (FISH) techniques, has been proposed in early studies as a powerful tool for obtaining biological dose estimates without 2-d lymphocyte culture procedures. The present work assesses the applicability of FISH-based PCC techniques using pan-centromeric and telomeric peptide nucleic acid (PNA) probes in triage mode biodosimetry and demonstrates that an improved rapid procedure of the prematurely condensed dicentric chromosome (PCDC) assay has the potential for evaluating exposed radiation doses in as short as 6 h after the collection of peripheral blood specimens.

  15. Foundations of identifying individual chromosomes by imaging flow cytometry with applications in radiation biodosimetry.

    Science.gov (United States)

    Beaton-Green, Lindsay A; Rodrigues, Matthew A; Lachapelle, Sylvie; Wilkins, Ruth C

    2017-01-01

    Biodosimetry is an important tool for triage in the case of large-scale radiological or nuclear emergencies, but traditional microscope-based methods can be tedious and prone to scorer fatigue. While the dicentric chromosome assay (DCA) has been adapted for use in triage situations, it is still time-consuming to create and score slides. Recent adaptations of traditional biodosimetry assays to imaging flow cytometry (IFC) methods have dramatically increased throughput. Additionally, recent improvements in image analysis algorithms in the IFC software have resulted in improved specificity for spot counting of small events. In the IFC method for the dicentric chromosome analysis (FDCA), lymphocytes isolated from whole blood samples are cultured with PHA and Colcemid. After incubation, lymphocytes are treated with a hypotonic solution and chromosomes are isolated in suspension, labelled with a centromere marker and stained for DNA content with DRAQ5. Stained individual chromosomes are analyzed on the ImageStream®(X) (EMD-Millipore, Billerica, MA) and mono- and dicentric chromosome populations are identified and enumerated using advanced image processing techniques. Both the preparation of the isolated chromosome suspensions as well as the image analysis methods were fine-tuned in order to optimize the FDCA. In this paper we describe the method to identify and score centromeres in individual chromosomes by IFC and show that the FDCA method may further improve throughput for triage biodosimetry in the case of large-scale radiological or nuclear emergencies.

  16. Dose Estimation in Radiation Cytogenetics

    Science.gov (United States)

    Ainsbury, Elizabeth; Lloyd, David

    2009-04-01

    Throughout the radiation cytogenetics community, a core group of methods exists to produce an estimate of radiation dose from an observed yield of DNA damage in blood. Mathematical and statistical analysis is extremely important for accurate assessment of data and results, and a number of classical statistical methods are commonly employed. However, the large number of statistical techniques, and the complexity of the methods, can lead to errors in data analysis and misinterpretation of results. Cytogenetics dose estimation software has been developed to simplify mathematical and statistical analysis of cytogenetic data. ``Dose Estimate'' is a collection of mathematical and statistical methods based on the cytogenetics methods and programs written by Alan Edwards, David Papworth, and others. Details of the biological and mathematical techniques used in the software will be presented, including maximum likelihood estimation of yield curve coefficients for the dicentric or translocation assays. Proposals for increasing the sophistication of the software through implementation of recently published Bayesian analysis techniques for cytogenetics will also be outlined.

  17. Videotaped Lectures in a Graduate Cytogenetics Course.

    Science.gov (United States)

    Phillips, R. L.; Jellen, E. N.

    1994-01-01

    Graduate students evaluated the use of videotape recordings of lectures on chromosome configurations in a cytogenetics course. Ninety-two percent of the students indicated that videotaping was worthwhile. Advantages for using the videotaped cytogenetics lectures are presented. (MDH)

  18. Will the new cytogenetics replace the old cytogenetics?

    Science.gov (United States)

    Salman, M; Jhanwar, S C; Ostrer, H

    2004-10-01

    With the advent of array-based comparative genomic hybridization technology, the analog cytogenetic analysis that has been used for the past 100 years could be replaced by the quantitative, microarray-based molecular analysis. Major advantages of the new array-based cytogenetic technologies are the high resolution and the high throughput. This technology is the first to offer an autonomous whole-chromosome analysis in one hybridization reaction for the detection of submicroscopic gains/losses. However, as with any new technology, it needs to be validated with regard to its performance in various applications (e.g. clinical genetic testing and cancer applications), comparative cost, and the data interpretation.

  19. [Interphase cytogenetics in oncologic diagnosis].

    Science.gov (United States)

    Pajor, L

    1998-12-06

    Nowadays, the detection of specific DNA sequences on interphase nuclei of cytological and paraffin slide preparations by in situ hybridization, the interphase cytogenetics became an established technology in the pathological diagnostics. A historical overview on the development of the technique is presented, the theoretical basis of the detection of numerical and structural chromosomal aberrations is demonstrated and the applications are exemplified on different types of malignant lymphomas, leukaemias as well as epithelial tumors. Combined use of the interphase cytogenetics, light microscopy and immunohistochemistry with the digital imaging techniques can provide us with morphological, immunophenotypic and genotypic informations of the same cellular object which might be a milestone in the pathomorphological diagnostics.

  20. Equine clinical cytogenetics: the past and future.

    Science.gov (United States)

    Lear, T L; Bailey, E

    2008-01-01

    Cytogenetic analyses of horses have benefited the horse industry by identifying chromosomal aberrations causing congenital abnormalities, embryonic loss and infertility. Technical advances in cytogenetics enabled the identification of chromosome specific aberrations. More recently, advances in genomic tools have been used to more precisely define chromosome abnormalities. In this report we review the history of equine clinical cytogenetics, identify historical landmarks for equine clinical cytogenetics, discuss how the current use of genomic tools has benefited this area, and how future genomics tools may enhance clinical cytogenetic studies in the horse.

  1. 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 o...

  2. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Brandao, Jose Odinilson de C.; Souza, Priscilla L.G.; Santos, Joelan A.L.; Vilela, Eudice C.; Lima, Fabiana F., E-mail: jodinilson@cnen.gov.b, E-mail: fflima@cnen.gov.b, E-mail: jasantos@cnen.gov.b [Centro Regional de Ciencias Nucleares do Nordeste (CRCN-NE/CNEN-PE), Recife, PE (Brazil); Calixto, Merilane S.; Santos, Neide, E-mail: santos_neide@yahoo.com.b [Universidade Federal de Pernambuco (UFPE), Recife, PE (Brazil). Dept. de Genetica

    2009-07-01

    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 {sup 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)

  4. Standardisation and Validation of Cytogenetic Markers to Quantify Radiation Absorbed Dose

    Directory of Open Access Journals (Sweden)

    Venkatachalam Perumal

    2011-02-01

    Full Text Available The amounts of radiation exposure received by radiation workers are monitored generally by physical dosimeters like thermoluminescence dosimeter (TLD and film badge. However, in practice the over-exposure recorded by physical dosimeters need to be confirmed with biological dosimeters. In addition to confirming the dose recorded by physical dosimeters, biological dosimeters play an important role in estimating the doses received during accidental exposures. Exposure to high levels of radiation induces certain  biochemical, biophysical, and immunological changes (biomarkers in a cell. Measurement of these changes are generally precise but cannot be effectively used to assess the dose, as the level of these changes return to normalcy within hours to months after exposure. Thus, among various biological indicators, cytogenetic indicators are considered practical and reliable for dose estimation. The paper highlights the importance and establishment of biodosimetry facility using genetic markers such as the sensitive dicentric chromosomes, rapid micronucleus assay and stable translocations measured using fluorescence in situ hybridisation and GTG banding for retrospective dose estimation. Finally, the development of gH2AX assay, as a potential marker of triage dosimeter, is discussed.Defence Science Journal, 2011, 61(2, pp.125-132, DOI:http://dx.doi.org/10.14429/dsj.61.832

  5. Interphase cytogenetics of prostatic adenocarcinoma

    OpenAIRE

    Alers, Janneke

    1997-01-01

    textabstractIn the first part of this chapter an overview will be presented on the structural, histological and functional aspects of the normal human prostate. The second part describes the epidemiological and clinicopathological features of prostatic adenocarcinoma. Further, a state of the art of (cyto)genetic aberrations occurring in prostatic cancer is given. The third part of this introduction will discuss methodological aspects of this thesis, i.e., the development and methodology of no...

  6. [Human cytogenetics. From 1956 to 2006].

    Science.gov (United States)

    Berger, R

    2007-02-01

    The correct enumeration of human chromosomes, only established in 1956, has marked the starting point of the modern cytogenetics. The introduction of banding techniques, then of in situ hybridization techniques, and now of genomic microarray technology allowed a dramatic development of cytogenetics of which the main applications to basic and medical research are evoked in this review.

  7. Solid tumor cytogenetics: current perspectives.

    Science.gov (United States)

    Nanjangud, Gouri; Amarillo, Ina; Rao, P Nagesh

    2011-12-01

    Conventional cytogenetics in conjunction with Fluorescence in Situ Hybridization (FISH) continues to remain an important and integral component in the diagnosis and management of solid tumors. The ability to effectively detect the vast majority of clinically relevant chromosomal aberrations with a rapid-to-acceptable turnaround time makes them the most cost-effective screening/detection tool currently available in modern pathology. In this review, we describe a representative set of solid tumors in which chromosomal analysis and/or FISH plays a significant role in the routine clinical management of solid tumors.

  8. The marriage of cytology and cytogenetics.

    Science.gov (United States)

    Dal Cin, Paola; Qian, Xiaohua; Cibas, Edmund S

    2013-06-01

    The past 20 years have witnessed extraordinary advances in the field of cytogenetics, with the discovery that a multitude of neoplasms is characterized by identifiable chromosomal changes. The ability of Cytogenetics to aid in the identification and precise classification of a variety of neoplasms has not gone unnoticed by Cytology. In particular, Cytology has recognized Cytogenetics as a welcome companion in the evaluation of soft tissue tumors, lymphomas, renal and urothelial tumors, and mesothelioma. This relationship requires a good understanding of the proper handling of specimens for optimal evaluation by Cytogenetics. The marriage of Cytology and Cytogenetics will likely grow stronger as more solid tumors (eg, salivary gland neoplasms) are discovered that harbor characteristic chromosomal abnormalities.

  9. RBE: Mechanisms inferred from cytogenetics

    Science.gov (United States)

    Goodwin, E. H.; Cornforth, M. N.

    1994-10-01

    Cyclotron-accelerated heavy ion beams provide a fine degree of control over the physical parameters of radiation. Cytogenetics affords a view into the irradiated cell at the resolution of chromosomes. Combined they form a powerful means to probe the mechanisms of RBE. Cytogenetic studies with high energy heavy ion beams reveal three LET-dependent trends for 1) level of initial damage, 2) distribution of damage among cells, and 3) lesion severity. The number of initial breaks per unit dose increases from a low-LET plateau to a peak at ~180 keV/μm and declines thereafter. Overdispersion of breaks is significant above ~100 keV/μm. Lesion severity, indicated by the level of chromosomal fragments that have not restituted even after long repair times, increases with LET. Similar studies with very low energy 238Pu alpha particles (120 keV/μm) reveal higher levels of initial breakage per unit dose, fewer residual fragments and a higher level of misrepair when compared to high energy heavy ions at the same LET. These observations would suggest that track structure is an important factor in genetic damage in addition to LET.

  10. Epilepsy and the new cytogenetics.

    Science.gov (United States)

    Mulley, John C; Mefford, Heather C

    2011-03-01

    We set out to review the extent to which molecular karyotyping has overtaken conventional cytogenetics in applications related to epilepsy. Multiplex ligase-dependent probe amplification (MLPA) targeted to predetermined regions such as SCN1A and KCNQ2 has been effectively applied over the last half a decade, and oligonucleotide array comparative genome hybridization (array CGH) is now well established for genome-wide exploration of microchromosomal variation. Array CGH is applicable to the characterization of lesions present in both sporadic and familial epilepsy, especially where clinical features of affected cases depart from established syndromes. Copy number variants (CNVs) associated with epilepsy and a range of other syndromes and conditions can be recurrent due to nonallelic homologous recombination in regions of segmental duplication. The most common of the recurrent microdeletions associated with generalized epilepsy are typically seen at a frequency of ∼ 1% at 15q13.3, 16p13.11, and 15q11.2, sites that also confer susceptibility for intellectual disability, autism, and schizophrenia. Incomplete penetrance and variable expressivity confound the established rules of cytogenetics for determining the pathogenicity for novel CNVs; however, as knowledge is gained for each of the recurrent CNVs, this is translated to genetic counseling. CNVs play a significant role in the susceptibility profile for epilepsies, with complex genetics and their comorbidities both from the "hotspots" defined by segmental duplication and elsewhere in the genome where their location and size are often novel.

  11. Human molecular cytogenetics: From cells to nucleotides.

    Science.gov (United States)

    Riegel, Mariluce

    2014-03-01

    The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. This technique has a wide range of applications that increased the dimension of chromosome analysis. The field of cytogenetics is particularly important for medical diagnostics and research as well as for gene ordering and mapping. Furthermore, the increased application of molecular biology techniques, such as array-based technologies, has led to improved resolution, extending the recognized range of microdeletion/microduplication syndromes and genomic disorders. In adopting these newly expanded methods, cytogeneticists have used a range of technologies to study the association between visible chromosome rearrangements and defects at the single nucleotide level. Overall, molecular cytogenetic techniques offer a remarkable number of potential applications, ranging from physical mapping to clinical and evolutionary studies, making a powerful and informative complement to other molecular and genomic approaches. This manuscript does not present a detailed history of the development of molecular cytogenetics; however, references to historical reviews and experiments have been provided whenever possible. Herein, the basic principles of molecular cytogenetics, the technologies used to identify chromosomal rearrangements and copy number changes, and the applications for cytogenetics in biomedical diagnosis and research are presented and discussed.

  12. Human molecular cytogenetics: from cells to nucleotides

    Directory of Open Access Journals (Sweden)

    Mariluce Riegel

    2014-01-01

    Full Text Available The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH, a technology linking cytogenetics to molecular genetics. This technique has a wide range of applications that increased the dimension of chromosome analysis. The field of cytogenetics is particularly important for medical diagnostics and research as well as for gene ordering and mapping. Furthermore, the increased application of molecular biology techniques, such as array-based technologies, has led to improved resolution, extending the recognized range of microdeletion/microduplication syndromes and genomic disorders. In adopting these newly expanded methods, cytogeneticists have used a range of technologies to study the association between visible chromosome rearrangements and defects at the single nucleotide level. Overall, molecular cytogenetic techniques offer a remarkable number of potential applications, ranging from physical mapping to clinical and evolutionary studies, making a powerful and informative complement to other molecular and genomic approaches. This manuscript does not present a detailed history of the development of molecular cytogenetics; however, references to historical reviews and experiments have been provided whenever possible. Herein, the basic principles of molecular cytogenetics, the technologies used to identify chromosomal rearrangements and copy number changes, and the applications for cytogenetics in biomedical diagnosis and research are presented and discussed.

  13. 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

  14. Brown Swiss cattle cytogenetic analysis

    Directory of Open Access Journals (Sweden)

    Rita Maria Ladeira Pires

    2010-02-01

    Full Text Available At 1985, a Brown Swiss herd from the Institute of Animal Science and Pastures, APTA/ SAA was cytogenetically analyzed and 1/29 Robertsonian translocation was observed. Such anomaly is related to fertility reduction. Quimeric abnormality such as 60,XX/60,XY in freemartin females. This study aimed to evaluate the incidence of cromossomic abnormalities in Brown Swiss animals, descending form herd karyotyped earlier. After 25 years, 127 animals (97 females and 30 males from this herd were karyotyped by metaphases obtained from blood lymphocyte cultures. The typical diploid number 2n=60, 58 acrocentric and two X submetacentric chromosomes were confirmed in 94 females and in 27 males the sexual complement X and Y, both submetacentric, although from different sizes. Four females from gemelar parturition whit males were karyotyped. Three of them presented quimerism 60,XX/60,XY (one with 25.8% of female cells (XX and 74.2% male cells (XY; one another with 10% of cells XX e 90% of XY and the third with 50% of each type showing genital masculinization, diagnosed as freemartism and discarded from herd. Two hundred and five cells were analyzed from another female twins and only 60,XX cells were found, diagnosed as normal. His sister also were normal (60,XY. The another three males were also analyzed from gemelar heterosexual parturition, with karyotype 60,XX/60,XY. Cytogenetic analysis are a safe methodology for freemartin abnormalities identification in female bovine twins with male bovine, giving the opportunity of selecting fertile animals, avoiding loses in the management of sterile animals. Robertsonian’s translocation was not observed in any of the animals analyzed.

  15. An Electric Method for Qualifying Cytogenetic Slides

    Directory of Open Access Journals (Sweden)

    Saeed Khamnei

    2011-01-01

    Full Text Available Cytogenetics is a branch of genetics that involves critical applications in medical decisions. The procedures involved take cells with chromosomes and rupture them on the slide to release their chromosomes in metaphase spreadings. Usually the slide contains few metaphase spreadings and plenty of intact cells, so finding and analyzing metaphase spreadings are difficult. It is for this reason that many investigations search for innovations that optimize chromosome spreading and facilitate cytogenetic studies. To aid rupturing cells in cytogenetic slide preparation, Pulsed Electric Fields (PEFs could be used. PEFs are a kind of electric fields, which affect the cell membrane in a way that can lead to cell lysis. These effects are currently the basis of applications such as nonthermal pasteurization. Therefore, applying PEFs to cell suspension of the cytogenetic experiments would probably lyse all the cells, yielding a clear slide with many metaphase spreadings.

  16. 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.

  17. Human molecular cytogenetics: from cells to nucleotides

    OpenAIRE

    2014-01-01

    The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. This technique has a wide range of applications that increased the dimension of chromosome analysis. The f...

  18. 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.

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

    Directory of Open Access Journals (Sweden)

    M.M.P. Lemos-Pinto

    2015-01-01

    Full Text Available 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.

  20. 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)

  1. Interlaboratory comparison of the dicentric chromosome assay for radiation biodosimetry in mass casualty events.

    Science.gov (United States)

    Wilkins, Ruth C; Romm, Horst; Kao, Tzu-Cheg; Awa, Akio A; Yoshida, Mitsuaki A; Livingston, Gordon K; Jenkins, Mark S; Oestreicher, Ursula; Pellmar, Terry C; Prasanna, Pataje G S

    2008-05-01

    This interlaboratory comparison validates the dicentric chromosome assay for assessing radiation dose in mass casualty accidents and identifies the advantages and limitations of an international biodosimetry network. The assay's validity and accuracy were determined among five laboratories following the International Organization for Standardization guidelines. Blood samples irradiated at the Armed Forces Radiobiology Research Institute were shipped to all laboratories, which constructed individual radiation calibration curves and assessed the dose to dose-blinded samples. Each laboratory constructed a dose-effect calibration curve for the yield of dicentrics for (60)Co gamma rays in the 0 to 5-Gy range, using the maximum likelihood linear-quadratic model, Y = c + alphaD + betaD(2). For all laboratories, the estimated coefficients of the fitted curves were within the 99.7% confidence intervals (CIs), but the observed dicentric yields differed. When each laboratory assessed radiation doses to four dose-blinded blood samples by comparing the observed dicentric yield with the laboratory's own calibration curve, the estimates were accurate in all laboratories at all doses. For all laboratories, actual doses were within the 99.75% CI for the assessed dose. Across the dose range, the error in the estimated doses, compared to the physical doses, ranged from 15% underestimation to 15% overestimation.

  2. 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.

    2015-01-01

    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. PMID:26445334

  3. Cytogenetics and chromosomes of tapeworms (Platyhelminthes, Cestoda).

    Science.gov (United States)

    Spakulová, Marta; Orosová, Martina; Mackiewicz, John S

    2011-01-01

    Tapeworms (Cestoda, Platyhelminthes) are a highly diversified group of parasites that can have significant veterinary importance as well as medical impact as disease agents of human alveococcosis, hydatidosis, taeniosis/cysticercosis/neurocysticercosis, hymenolepidosis or diphyllobothriasis. Because of their great diversity, there has been keen interest in their phylogenetic relationships to other obligate parasitic platyhelminthes, as well as within the group itself. Recent phylogenetic analyses of cestodes, however, have focused on morphological, molecular, life cycle, embryology and host-specificity features and conspicuously omitted inclusion of karyological data. Here we review the literature from 1907 to 2010 and the current status of knowledge of the chromosomes and cytogenetics within all of the cestode orders and place it within an evolutionary perspective. Karyological data are discussed and tabulated for 115 species from nine eucestode orders with ideograms of 46 species, and a comparison of cytogenetic patterns between acetabulate and bothriate cestode lineages is made. Attention is drawn to gaps in our knowledge for seven remaining orders and cestodarian groups Gyrocotylidea and Amphilinidea. Among the cytogenetic aspects covered are: chromosome number, triploidy, classical karyotype cytogenetics (banding patterns, karyotype asymmetry, secondary constrictions), as well as advanced karyotype techniques allowing location of genes on chromosomes by fluorescence in situ hybridization. We demonstrate that further progress in cestode karyosystematics rests with new molecular approaches and the application of advanced cytogenetic markers facilitating intimate karyotype analysis.

  4. Canine cytogenetics--from band to basepair.

    Science.gov (United States)

    Breen, M

    2008-01-01

    Humans and dogs have coexisted for thousands of years, during which time we have developed a unique bond, centered on companionship. Along the way, we have developed purebred dog breeds in a manner that has resulted unfortunately in many of them being affected by serious genetic disorders, including cancers. With serendipity and irony the unique genetic architecture of the 21st century genome of Man's best friend may ultimately provide many of the keys to unlock some of nature's most intriguing biological puzzles. Canine cytogenetics has advanced significantly over the past 10 years, spurred on largely by the surge of interest in the dog as a biomedical model for genetic disease and the availability of advanced genomics resources. As such the role of canine cytogenetics has moved rapidly from one that served initially to define the gross genomic organization of the canine genome and provide a reliable means to determine the chromosomal location of individual genes, to one that enabled the assembled sequence of the canine genome to be anchored to the karyotype. Canine cytogenetics now presents the biomedical research community with a means to assist in our search for a greater understanding of how genome architectures altered during speciation and in our search for genes associated with cancers that affect both dogs and humans. The cytogenetics 'toolbox' for the dog is now loaded. This review aims to provide a summary of some of the recent advancements in canine cytogenetics.

  5. Applications of SKY in cancer cytogenetics.

    Science.gov (United States)

    Bayani, Jane M; Squire, Jeremy A

    2002-01-01

    Clinical and cancer cytogenetics is a rapidly evolving discipline. The past decade has seen a dramatic change in molecular biology and fluorescence microscopy. The use of fluorescence in situ hybridization (FISH) technologies has enabled the rapid analysis of cytogenetic specimens as an adjunct to classical cytogenetic analysis. Spectral karyotyping (SKY) is a 24-color, multi-chromosomal painting assay that allows the visualization of all human chromosomes in one experiment. The ability for SKY analysis to detect equivocal or complex chromosomal rearrangements, as well as to identify the chromosomal origins of marker chromosomes and other extra-chromosomal structures, makes this a highly sensitive and valuable tool for identifying recurrent chromosomal aberrations. The SKY has been applied to various tumor groups including hematological malignancies, sarcomas, carcinomas and brain tumors, with the intent of identifying specific chromosomal abnormalities that may provide insight to the genes involved in the disease process as well as identifying recurrent cytogenetic markers for clinical diagnosis and prognostic assessment. The SKY has also been applied for the mouse genome, enabling investigators to extrapolate information from mouse models of cancer to their human counterparts. This review will address the advances that SKY has facilitated in the field of cancer cytogenetics, as well as its variety of application in the cancer research laboratories.

  6. [Cytogenetic maps and their applications in plants].

    Science.gov (United States)

    Xiong, Huai-Yang; Zhao, Li-Juan; Li, Li-Jia

    2005-07-01

    Integrated cytogenetic maps encompass the information from both genetic maps and cytological maps. It is possible for cytogenetic maps to simultaneously report the cytological and genetic position of a maker. To constructure cytogenetic maps it is necessary to relate the markers mapped across linkage groups to cytological position on chromosomes. Cytogenetic maps have been constructured primarily in two ways. The first general strategy is to utilize the chromosome breakpoints to determine the location of genetically mapped markers on the chromosomes. A second way is by the direct hybridization of genetically mapped sequences onto chromosomes by FISH. In addition, a novel approach is to use RN-cM maps to predict the physical position of genetic markers on the chromosomes. Cytogenetic maps suggest that both the density of genes and the frequency of recombination increase towards the distal regions of chromosome arms, and they play significant roles in revealing gene colinearity between two species, exploring the evolution relationship between both of them and in map-based gene isolation.

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 42 CFR 493.1225 - Condition: Clinical cytogenetics.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 5 2010-10-01 2010-10-01 false Condition: Clinical cytogenetics. 493.1225 Section... Testing § 493.1225 Condition: Clinical cytogenetics. If the laboratory provides services in the specialty of Clinical cytogenetics, the laboratory must meet the requirements specified in §§ 493.1230...

  12. Molecular cytogenetics and its applications to soft tissue tumor analysis.

    Science.gov (United States)

    D'Amato, L

    1995-01-01

    Cytogenetic analyses have demonstrated the association of specific chromosomal changes with particular types of soft tissue tumors. This work describes the molecular cytogenetic approaches to genetic analysis of these tumors. It illustrates how molecular cytogenetics may provide a rapid and sensitive method of diagnosis and can contribute to identify specific genes implied in the aetiology of soft tissue tumors.

  13. Automated spectral imaging for clinical diagnostics

    Science.gov (United States)

    Breneman, John; Heffelfinger, David M.; Pettipiece, Ken; Tsai, Chris; Eden, Peter; Greene, Richard A.; Sorensen, Karen J.; Stubblebine, Will; Witney, Frank

    1998-04-01

    Bio-Rad Laboratories supplies imaging equipment for many applications in the life sciences. As part of our effort to offer more flexibility to the investigator, we are developing a microscope-based imaging spectrometer for the automated detection and analysis of either conventionally or fluorescently labeled samples. Immediate applications will include the use of fluorescence in situ hybridization (FISH) technology. The field of cytogenetics has benefited greatly from the increased sensitivity of FISH producing simplified analysis of complex chromosomal rearrangements. FISH methods for identification lends itself to automation more easily than the current cytogenetics industry standard of G- banding, however, the methods are complementary. Several technologies have been demonstrated successfully for analyzing the signals from labeled samples, including filter exchanging and interferometry. The detection system lends itself to other fluorescent applications including the display of labeled tissue sections, DNA chips, capillary electrophoresis or any other system using color as an event marker. Enhanced displays of conventionally stained specimens will also be possible.

  14. 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...... be successfully applied in cytogenetic analysis as a replacement of standard techniques....

  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. Current applications of molecular cytogenetic technologies.

    Science.gov (United States)

    Mark, H F; Jenkins, R; Miller, W A

    1997-01-01

    This review discusses select current applications of fluorescent in situ hybridization (FISH) which may be of utility for the average clinical cytogenetic laboratory. Owing to the large number of men and women affected, the applications chosen to illustrate the use of FISH technology in cancer focus on two diseases: breast cancer and prostate cancer. The applicability of FISH to detect common aneuploidies, such as trisomy 21, trisomy 18, trisomy 13 and the sex chromosome aneuploidies in prenatal diagnosis, is discussed, as well as FISH for the detection of microdeletions and microduplications. Quality assurance/quality control issues and standards and guidelines relating to laboratory practices in molecular cytogenetic testing are reviewed.

  17. The current state of molecular cytogenetics in cancer diagnosis.

    Science.gov (United States)

    Liehr, Thomas; Othman, Moneeb A K; Rittscher, Katharina; Alhourani, Eyad

    2015-04-01

    Cytogenetics and molecular cytogenetics are and will continue to be indispensable tools in cancer diagnostics. Leukemia and lymphoma diagnostics are still emphases of routine (molecular) cytogenetics and corresponding studies of solid tumors gain more and more prominence. Here, first a historical perspective of molecular tumor cytogenetics is provided, which is followed by the basic principles of the fluorescence in situ hybridization (FISH) approach. Finally the current state of molecular cytogenetics in cancer diagnostics is discussed. Nowadays routine diagnostics includes basic FISH approaches rather than multicolor-FISH. The latter together with modern high-throughput methods have their impact on research to identify new tumor-associated genomic regions.

  18. Fifty years of cytogenetics: a parallel view of the evolution of cytogenetics and genotoxicology.

    Science.gov (United States)

    Garcia-Sagredo, J M

    2008-01-01

    A parallelism exists between human cytogenetics and cytogenetic toxicology. The breakthroughs, mostly coming from and used in clinical genetics, are widely used in genetic toxicology. The birth of human cytogenetics occurred in 1956 when it was published that the diploid number of chromosomes in humans is 46. The first stage in chromosome-induced mutagenesis began in 1938 when Sax published the effects of X-rays on the chromosomes of Drosophila. In 1959, the cytogenetic anomalies for Down, Klinefelter, and Turner syndromes were described, and parallelly in 1960, the first publication on chromosomal aberrations in man caused by ionizing radiation appeared. The cytogenetic analysis of chromosomal aberrations in cell cultures is considered one of the primary methods to evaluate induced mutagenesis. At the end of the 1960s, banding techniques allowed chromosomes to be individually identified, in parallel, the sister chromatid exchange analysis technology was described. Another milestone in the history of induced mutagenesis was the discovery that mutagenic agents were able to alter chromosomal division and segregation in gonads inducing meiotic nondisjunction. Here we review new approaches and applications such as biological dosimetry, translocation scoring using FISH, and micronucleus test. Chromosomal aberrations and micronucleus test are now effective cytogenetic biomarkers of early effect used as cancer predictors. Human cytogenetics has proven to be effective over its 50-year lifespan and, although each new technique that has appeared seemed to announce its end, the fact is that the current state of cytogenetics is in reality a collection of techniques that, while common, are cheap, fast, and wide-ranging. Therefore, in genotoxicology, they continue to be useful to identify mutagenic agents as well as to evaluate and analyze exposed populations.

  19. 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...

  20. The use of microarray technology for cytogenetics.

    Science.gov (United States)

    Bejjani, Bassem A; Shaffer, Lisa G; Ballif, Blake C

    2010-01-01

    The use of microarray technology is revolutionizing the field of clinical cytogenetics. This new technology has transformed the cytogenetics laboratory by adapting techniques that have heretofore been the province of molecular geneticists. Intimate knowledge and comfortable familiarity with these techniques are now a must for the modern cytogeneticist, rather than a stimulating but discretionary intellectual exercise or an elective luxury. The cytogenetic laboratory of the future will likely have more scanners than microscopes, more software packages than darkrooms, and more technologists, supervisors, and directors with molecular training than ever before. This technical convergence between molecular diagnostics and clinical cytogenetics is exciting and has already resulted in many stimulating discoveries. However, the traditional skills of the cytogeneticist are needed now more than ever before. As our ability to inspect the genome increases, so does the variety of abnormalities that we uncover. Understanding the mechanisms of these aberrations to guide additional testing of the parents and genetic counseling of the patients and their families requires the expertise of individuals who are well-versed in meiotic mechanisms and chromosomal structures that may lead to these abnormalities. Cytogeneticists are uniquely positioned to understand these mechanisms and assist genetic counselors and clinicians in their daily interactions with patients and families.

  1. Development and application of the PCC biodosimetry method in emergency preparedness

    Energy Technology Data Exchange (ETDEWEB)

    Stricklin, D. (Swedish Defence Research Agency, FOI (Sweden)); Lindholm, C. (Finnish Radiation and Nuclear Safety Authority, STUK (Finland)); Jaworska, A. (Norwegian Radiation Protection Authority, NRPA (Norway))

    2008-07-15

    A method for biological assessment of radiation dose for specific application in emergency preparedness was developed. Premature chromosome condensation (PCC) was investigated to provide a potentially faster means of analysis and the ability to assess higher doses than with the dicentric assay which is routinely applied in biodosimetry today. A review of existing methods was made, followed by experiments determine optimal assay conditions, and evaluations to determination of optimal conditions and the most appropriate endpoints for analyses. Twelve different experimental conditions were examined with four different evaluation approaches. Aspects during optimization such as practicality, speed, and reliability were considered. The conclusion from these studies was a PCC protocol utilizing okadaic acid for induction of PCC cells in stimulated lymphocytes but without the use of colcemid for metaphase arrest with the subsequent evaluation of ring chromosomes. Well-defined criteria were established for evaluation of PCC cells and ring chromosome aberrations. An inter-calibration was made by comparing assessment of ring chromosomes between all three laboratories. Agreement was made to count only rings with observable open spaces or large, obvious rings without open spaces. Finally a dose response curve for the PCC method was prepared and a comparison of the PCC method to the traditional dicentric assay in triage mode was made. The triage method requires a minimal number of evaluations so that categorization of high, medium and low doses may be made in an emergency situation where large numbers of people should be evaluated. The comparison of the PCC method with the dicentric assay triage method indicated that the PCC assay performed superior to the dicentric assay for evaluation of samples at higher doses, however, the dicentric assay appeared to provide more accurate dose assessment at lower doses. This project suggests a PCC assay method for biological dose estimates

  2. Warehouse automation

    OpenAIRE

    Pogačnik, Jure

    2017-01-01

    An automated high bay warehouse is commonly used for storing large number of material with a high throughput. In an automated warehouse pallet movements are mainly performed by a number of automated devices like conveyors systems, trolleys, and stacker cranes. From the introduction of the material to the automated warehouse system to its dispatch the system requires no operator input or intervention since all material movements are done automatically. This allows the automated warehouse to op...

  3. FY05 LDRD Final Report Molecular Radiation Biodosimetry LDRD Project Tracking Code: 04-ERD-076

    Energy Technology Data Exchange (ETDEWEB)

    Jones, I M; A.Coleman, M; Lehmann, J; Manohar, C F; Marchetti, F; Mariella, R; Miles, R; Nelson, D O; Wyrobek, A J

    2006-02-03

    been, these methods are not suitable. The best current option for triage radiation biodosimetry is self-report of time to onset of emesis after the event, a biomarker that is subject to many false positives. The premise of this project is that greatly improved radiation dosimetry can be achieved by research and development directed toward detection of molecular changes induced by radiation in cells or other biological materials. Basic research on the responses of cells to radiation at the molecular level, particularly of message RNA and proteins, has identified biomolecules whose levels increase (or decrease) as part of cellular responses to radiation. Concerted efforts to identify markers useful for triage and clinical applications have not been reported as yet. Such studies would scan responses over a broad range of doses, below, at and above the threshold of clinical significance in the first weeks after exposure, and would collect global proteome and/or transcriptome information on all tissue samples accessible to either first responders or clinicians. For triage, the goal is to identify those needing medical treatment. Treatment will be guided by refined dosimetry. Achieving this goal entails determining whether radiation exposure was below or above the threshold of concern, using one sample collected within days of an event, with simple devices that first responders either use or distribute for self-testing. For the clinic, better resolution of dose and tissue damage is needed to determine the nature and time sensitivity of therapy, but multiple sampling times may be acceptable and clinical staff and equipment can be utilized. Two complementary areas of research and development are needed once candidate biomarkers are identified, validation of the biomarker responses and validation of devices/instrumentation for detection of responses. Validation of biomarkers per se is confirmation that the dose, time, and tissue specific responses meet the reporting

  4. Cytogenetic analysis of patients with amenorrhea

    Institute of Scientific and Technical Information of China (English)

    Zhang Ying; Zhang Xiu-ling; Li Yan

    2006-01-01

    Objective: To analyse the cytogenetic examination results and investigate the effect of chromosome abnormalities on amenorrhea.Methods: The routine cytogenetic analysis was performed, including the chromosome G band analysis and karyotype analysis of the cultured peripheral blood lymphocytes from the patients with primary amenorrhea or secondary amenorrhea.Results: One hundred and thirty-seven cases were found with chromosome abnormalities in 234 patients with primary amenorrhea. The incidence of chromosome abnormality was 58.6%. In 309 with secondary amenorrhea, the incidence of chromosome abnormality was 13.6%.The reported abnormalities included the numerical and structural abnormalities of X chromosome, 46,XY, 45,X0/46,XY,and the structural abnormality of autosome.Conclusions: Chromosome abnormality is one of the main causes of amenorrhea. Karyotype analysis of chromosome is absolutely necessary for the diagnosis and treatment of patient with amenorrhea.

  5. Cytogenetic studies in mycosis fungoides. [11 patients

    Energy Technology Data Exchange (ETDEWEB)

    Erkman-Balis, B.; Rappaport, H.

    1974-09-01

    Cytogenetic studies were performed on 11 patients with mycosis fungoides. The tissues examined consisted of skin, lymph node, spleen, bone marrow, and peripheral blood. All eleven cases including skin biopsies from four patients revealed abnormal karyotypes with a modal chromosome number ranging from 44 to 50. The chromosome abnormalities were consistent in each case. Multiple tissues taken from six cases, simultaneously and/or consecutively at time intervals ranging from 2.5 weeks to 1.5 years, revealed in each case identical chromosome abnormalities which remained essentially unchanged over periods of up to 18 months. In 3 cases, cytogenetic studies were of additional help in the evaluation of the involvement of lymph nodes and bone marrow by mycosis fungoides at a time when histologic examination was negative or doubtful. Our observations are in keeping with the concept that mycosis fungoides is a neoplastic cutaneous disorder which may spread to extracutaneous tissues by lymphatic and hematogenous routes.

  6. Toward Molecular Cytogenetical Characterizations in Cotton Genome

    Institute of Scientific and Technical Information of China (English)

    LING Jian; WANG Kun-bo; PENG Ren-hai; WU Qion; SONG Guo-li; LIU Fang; STELLY David

    2008-01-01

    @@ Cotton is viewed as the most important cash crop in the world,and sustains the agricultural economies of many nations by providing a sustainable fiber product for the textile industry.Due to its global economic importance,many molecular tools are being developed.Florescent in situ hybridization (FISH),which allows DNA sequences to be mapped directly on chromosomes,is stressed as one of the most powerful techniques in plant molecular cytogenetics research.

  7. Morphology, cytogenetics and classification of MDS.

    Science.gov (United States)

    Giagounidis, Aristoteles; Haase, Detlef

    2013-12-01

    Myelodysplastic syndromes are heterogeneous bone marrow diseases with a variable pathogenetic background. Cytomorphological alterations in peripheral blood films as well as bone marrow aspirates and histological findings in trephine biopsies result from cytogenetic and molecular abnormalities, epigenetic dysregulation and immune dysfunction and are key elements for setting the diagnosis of MDS. Whereas diagnosis can be made quite easily in advanced MDS this is much more difficult in early MDS, especially in cases with cytopenias or dysplasias of uncertain significance (ICUS and IDUS). Recommendations, illustrated by case reports for a stepwise annealing to the final diagnosis and exclusion of differential diagnoses are given. Furthermore, the problem of correct counting and identification of blasts is covered and features defining dysplasia in all three cell lineages are recapitulated thoroughly. Histopathology is not mandatory but has a distinct diagnostic and prognostic value especially in cases with hypoplasia or fibrosis and when the TP53 mutational status is of relevance. In up to 70% of patients with MDS clonal chromosome abnormalities can be identified which have a high impact on setting the correct diagnosis and estimation of prognosis. Incidence, type, molecular background and clinical relevance of distinct anomalies as well as cytogenetic subgroups are presented in detail and the development of the new cytogenetic prognostic scoring system as part of the IPSS-R is explained. The value of FISH-Analysis as a complementary tool for chromosome analysis in MDS is demonstrated with special emphasis on the possibility to perform frequent cytogenetic monitoring by CD34-FISH examination of peripheral blood. Finally the evolution of MDS-classification systems from FAB to WHO with a critical discussion of their shortcomings like degree of dysplasia, blast thresholds, inclusion/exclusion of CMML, and the lack of dynamic information is presented.

  8. Cytogenetic contribution to uniparental disomy (UPD

    Directory of Open Access Journals (Sweden)

    Liehr Thomas

    2010-03-01

    Full Text Available Abstract Uniparental disomy (UPD is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connection with or due to a chromosomal rearrangement. Thus, additional (molecular cytogenetic characterization of UPD cases is essential. Up to now > 1,100 UPD cases detected in clinical, non-tumor cases are reported in the literature. Recently, these cases were summarized in a regularly updated, freely available online database http://www.med.uni-jena.de/fish/sSMC/00START-UPD.htm. Based of this, here the presently known imprinting syndromes, the chromosomal contribution to UPD phenomenon, and the cytogenetic subgroups of UPD, including cases with normal, abnormal balanced or unbalanced karyotype (like e.g. small supernumerary marker chromosomes and Robertsonian translocations and segmental UPD are reviewed. Furthermore, chromosome fragmentation as a possible mechanism of trisomic rescue is discussed, which might help to explain the observed 1:9 rate of maternal versus paternal UPD present in cases with original trisomic karyotypes. Overall, as UPD is more but an interesting rarity, the genetic background of each "UPD-patient" needs to be characterized besides by molecular methods, also by molecular cytogenetics in detail.

  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. Cytogenetics of pediatric acute myeloid leukemia.

    Science.gov (United States)

    Manola, Kalliopi N

    2009-11-01

    Acute myeloid leukemia (AML) is a clinically and genetically heterogeneous disease accounting for 15-20% of all childhood acute leukemias, while it is responsible for more than half of the leukemic deaths in these patients. This article focuses on the significance of cytogenetic analysis in pediatric AML supporting the importance of cytogenetic analysis in the pathogenesis, diagnosis, prognosis, follow-up and treatment selection in childhood AML. It reviews in detail the types and frequencies of most common chromosomal aberrations, their molecular background, their correlation with French American British (FAB) subtypes and age distribution and their prognostic relevance. It also summarizes some less frequent or rare chromosome aberrations in which the prognostic classification has not been determined yet owning to the small number of patients and the variable treatment modalities used in different study groups. Furthermore, it discusses the association of specific chromosome rearrangements with prenatal exposure to carcinogenic agents or therapeutic agents and highlights the ongoing and future research on pediatric AML in the evolving field of Cytogenetics.

  11. Flow cytogenetics and plant genome mapping.

    Science.gov (United States)

    Dolezel, Jaroslav; Kubaláková, Marie; Bartos, Jan; Macas, Jirí

    2004-01-01

    The application of flow cytometry and sorting (flow cytogenetics) to plant chromosomes did not begin until the mid-1980s, having been delayed by difficulties in preparation of suspensions of intact chromosomes and discrimination of individual chromosome types. These problems have been overcome during the last ten years. So far, chromosome analysis and sorting has been reported in 17 species, including major legume and cereal crops. While chromosome classification by flow cytometry (flow karyotyping) may be used for quantitative detection of structural and numerical chromosome changes, chromosomes purified by flow sorting were found to be invaluable in a broad range of applications. These included physical mapping using PCR, high-resolution cytogenetic mapping using FISH and PRINS, production of recombinant DNA libraries, targeted isolation of markers, and protein analysis. A great potential is foreseen for the use of sorted chromosomes for construction of chromosome and chromosome-arm-specific BAC libraries, targeted isolation of low-copy (genic) sequences, high-throughput physical mapping of ESTs and other DNA sequences by hybridization to DNA arrays, and global characterization of chromosomal proteins using approaches of proteomics. This paper provides a comprehensive review of the methodology and application of flow cytogenetics, and assesses its potential for plant genome analysis.

  12. Accounting Automation

    OpenAIRE

    Laynebaril1

    2017-01-01

    Accounting Automation   Click Link Below To Buy:   http://hwcampus.com/shop/accounting-automation/  Or Visit www.hwcampus.com Accounting Automation” Please respond to the following: Imagine you are a consultant hired to convert a manual accounting system to an automated system. Suggest the key advantages and disadvantages of automating a manual accounting system. Identify the most important step in the conversion process. Provide a rationale for your response. ...

  13. Home Automation

    OpenAIRE

    Ahmed, Zeeshan

    2010-01-01

    In this paper I briefly discuss the importance of home automation system. Going in to the details I briefly present a real time designed and implemented software and hardware oriented house automation research project, capable of automating house's electricity and providing a security system to detect the presence of unexpected behavior.

  14. 42 CFR 493.1276 - Standard: Clinical cytogenetics.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 5 2010-10-01 2010-10-01 false Standard: Clinical cytogenetics. 493.1276 Section 493.1276 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN... Testing Analytic Systems § 493.1276 Standard: Clinical cytogenetics. (a) The laboratory must have...

  15. Cytogenetic investigation of patients with primary amenorrhea

    Directory of Open Access Journals (Sweden)

    K Vijaya Laxmi

    2012-01-01

    Full Text Available Primary amenorrhea refers to absence of spontaneous menarche even after the age of 16. Cytogenetic analysis in two cases with primary amenorrhea, short stature, poorly developed secondary sexual characteristics, and growth retardation were studied. Routine GTG-band analysis of metaphases from peripheral blood leucocytes revealed female karyotype with a 15(ps+ and an isochromosome of X, i(Xq, in one patient and 46,X, i(Xq, in another patient. Ascertainment of the karyotype aided in confirmation of the provisional diagnosis, a better phenotype-genotype correlation to understand clinical heterogeneity in genetic counseling.

  16. 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...... 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....

  17. Molecular karyotyping in human constitutional cytogenetics.

    Science.gov (United States)

    Sanlaville, Damien; Lapierre, Jean-Michel; Turleau, Catherine; Coquin, Aurélie; Borck, Guntram; Colleaux, Laurence; Vekemans, Michel; Romana, Serge Pierrick

    2005-01-01

    Using array CGH it is possible to detect very small genetic imbalances anywhere in the genome. Its usefulness has been well documented in cancer and more recently in constitutional disorders. In particular it has been used to detect interstitial and subtelomeric submicroscopic imbalances, to characterize their size at the molecular level and to define the breakpoints of chromosomal translocation. Here, we review the various applications of array CGH in constitutional cytogenetics. This technology remains expensive and the existence of numerous sequence polymorphisms makes its interpretation difficult. The challenge today is to transfer this technology in the clinical setting.

  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. Interphase cytogenetics of workers exposed to benzene

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, L.; Wang, Yunxia; Venkatesh, P. [Univ. of California, Berkeley, CA (United States)] [and others

    1996-12-01

    Fluorescence in situ hybridization (FISH) is a powerful new technique that allows numerical chromosome aberrations (aneuploidy) to be detected in interphase cells. In previous studies, FISH has been used to demonstrate that the benzene metabolites hydroquinone and 1,2,4-benzenetriol induce aneuploidy of chromosomes 7 and 9 in cultures of human cells. In the present study, we used an interphase FISH procedure to perform cytogenetic analyses on the blood cells of 43 workers exposed to benzene (median=31 ppm, 8-hr time-weighted average) and 44 matched controls from Shanghai, China. High benzene exposure (>31 ppm, n=22) increased the hyperdiploid frequency of chromosome 9 (p<0.01), but lower exposure (<31 ppm, n=21) did not. Trisomy 9 was the major form of benzene-induced hyperdiploidy. The level of hyperdiploidy in exposed workers correlated with their urinary phenol level (r= 0.58, p < 0.0001), a measure of internal benzene close. A significant correlation was also found between hyperdiploicly and decreased absolute lymphocyte count, an indicator of benzene hematotoxicity, in the exposed group (r=-0.44, p=0.003) but not in controls (r=-0.09, P=0.58). These results show that high benzene exposure induces aneuploidy of chromosome 9 in nondiseased individuals, with trisomy being the most prevalent form. They further highlight the usefulness of interphase cytogenetics and FISH for the rapid and sensitive detection of aneuploidy in exposed human populations. 35 refs., 3 figs., 2 tabs.

  20. Comparison of differences between dicentric assay and translocation analysis for biodosimetry in cultured peripheral blood lymphocytes of Korean individuals

    Energy Technology Data Exchange (ETDEWEB)

    Park, Hyun Jin; Park, Mi Young; Seo, Min Ji; Kwon, Hee Kyung; Lee, Su Jae; Lee, Yun Sil; Ji, Young Hoon; Choi, Soo Yong; Cho, Chul Koo; Kim, Tae Hwan; Kang, Chang Mo [Korea Institute of Radiological and Medical Sciences, Seoul (Korea, Republic of)

    2004-07-01

    Chromosome aberrations are considered to be important indicators of induced DNA damage and genomic instability. For this reason, they constitute the main parameter used to monitor individuals exposed to radiation. Biological dosimetry using the analysis of dicentrics in human lymphocytes is well established, especially in case of acute exposure, when the blood samples are taken within a few weeks. However, dicentric analysis is not an adequate parameter in case of chronic exposure, because these aberrations are unstable with time, and have a limited use for dose assessment of past exposures. In contrast to dicentrics, however, translocations are considered stable in cell division and so the yield should not fall with time. In the present study, using FISH-chromosome painting analysis with the dose-response curve for chromosome aberrations, we monitored the stable and unstable chromosome aberrations of 2 Korean's periperal blood lymphocytes irradiated in vitro with {gamma}-rays from {sup 137}Cs (doses between 0.0 and 2.0 Gy). By using the dose-response curve for chromosome aberration, our aim was to estimate the absorbed doses, and then establish comparison with the results obtained by conventional dicentric analysis, thus taking the opportunity to test the validity of chromosome aberration analysis by FISH painting method for retrospective biodosimetry in Korean individual.

  1. 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.

  2. [Achievement and prospects of the new laboratory of medical cytogenetics].

    Science.gov (United States)

    Gaĭner, T A; Karimova, O G

    2013-01-01

    Chromosomal abnormalities (CA) represent a significant part in the congenital and hereditary diseases of man. Because of the high need for cytogenetic analysis in January, 2011 a new cytogenetic laboratory was established in ICBFM SB RAS. For 1 year and 8 months more than 450 people was examined (including 21 cases with prenatal diagnosis (PD)), and 34 cases of CA was revealed. The diagnostics allows to choose symptomatic treatment for patients with CA or to prevent the birth of a child with serious CA and to plan a family. Our future plans is to develop of PD (amniocentesis) and to use the methods of molecular cytogenetic.

  3. Cytogenetics Findings in a Histiocytic Sarcoma Case

    Science.gov (United States)

    Alonso-Dominguez, J. M.; Calbacho, M.; Talavera, M.; Villalon, C.; Abalo, L.; Garcia-Gutierrez, J. V.; Lozano, S.; Tenorio, M.; Villarrubia, J.; Lopez-Jimenez, J.; Ferro, M. T.

    2012-01-01

    Histiocytic sarcoma (HS) is a neoplasm derived from histiocytes. Its diagnosis was not clear until its immunohistochemistry profile was correctly established. Not much is known about its genetic properties. We report a case of a 48-year-old male patient whose bone marrow was almost completely occupied by monomorphic medium size neoplastic cellularity. Its immunohistochemical profile was CD68+, CD4+, CD45+ with negativity of other dendritic cells, and other lineage markers. Cytogenetic study showed 4 related clones: one with trisomy 8 and extra material on the short arms of chromosome 4; a second line with tetrasomy of chromosome 8, add(4)(p16); the third clone had the same alterations as the previous and deletion of chromosome 3 at q11; the fourth line had tetrasomy 8 and translocation t(3;5)(q25;q35). To our knowledge this is the first HS case showing chromosome 8 trisomy and tetrasomy and the other described alterations. PMID:22937328

  4. Cytogenetics Findings in a Histiocytic Sarcoma Case

    Directory of Open Access Journals (Sweden)

    J. M. Alonso-Dominguez

    2012-01-01

    Full Text Available Histiocytic sarcoma (HS is a neoplasm derived from histiocytes. Its diagnosis was not clear until its immunohistochemistry profile was correctly established. Not much is known about its genetic properties. We report a case of a 48-year-old male patient whose bone marrow was almost completely occupied by monomorphic medium size neoplastic cellularity. Its immunohistochemical profile was CD68+, CD4+, CD45+ with negativity of other dendritic cells, and other lineage markers. Cytogenetic study showed 4 related clones: one with trisomy 8 and extra material on the short arms of chromosome 4; a second line with tetrasomy of chromosome 8, add(4(p16; the third clone had the same alterations as the previous and deletion of chromosome 3 at q11; the fourth line had tetrasomy 8 and translocation t(3;5(q25;q35. To our knowledge this is the first HS case showing chromosome 8 trisomy and tetrasomy and the other described alterations.

  5. [Fluorescent in situ hybridization in clinical cytogenetics].

    Science.gov (United States)

    Michalová, K

    1995-02-01

    During the last few years molecular biology methods expanded into human cytogenetics. This is in close connection with advanced technologies of DNA probes preparation and possibilities of their non-radioactive labelling by means of enzymatic incorporation of modified nucleotides as well as their hybridization with complementary DNA of chromosomes and interphase nuclei. FISH became a useful method in the clinical research. We present the short review of FISH methodologies and their applications for studies of translocation, deletions, amplifications and other chromosomal rearrangements in genetic and oncologic patients. The sensitivity of these methods is approximately 1-10 kb and therefore precise localization of genes on chromosomes is possible. Except gene mapping FISH can be used for comparative genomic mapping (CGH) and for identification of chromosomal changes of tumor cells.

  6. Nonchromosomal cytogenetic analysis of mammal somatic cells

    Directory of Open Access Journals (Sweden)

    Kovalova O. А.

    2013-01-01

    Full Text Available The mutational events that take place in mammalian somatic cells influenced with different endogenous and exogenous factors are presented in this review. The nonchromosomal method of research allows taking into account the complex cell characteristics without time-consuming analysis of the chromosomes as such. As a result, the information can be obtained about the mitotic (phases of mitosis, the number of nuclei per cell, micronuclei, pathology of mitosis and vital (mitotic index, apoptosis cell statuses, as well as about the state of chromosomal integrity (the presence of nucleoplasmic bridges, nucleus protrusions, chromosome fragmentation, micronuclei. Depending on the material studied (erythrocytes and lymphocytes of peripheral blood, buccal cells, permanent cell lines etc., a complex of cytogenetic characteristics can be selected for each case which is the most informative for determination of the mutational spectra in mammalian somatic cells.

  7. Cytogenetics and the evolution of medical genetics.

    Science.gov (United States)

    Ferguson-Smith, Malcolm A

    2008-08-01

    Interest in cytogenetics may be traced to the development of the chromosomal theory of inheritance that emerged from efforts to provide the basis for Darwin's theory "On the origin of species by means of natural selection." Despite their fundamental place in biology, chromosomes and genetics had little impact on medical practice until the 1960s. The discovery that a chromosomal defect caused Down syndrome was the spark responsible for the emergence of medical genetics as a clinical discipline. Prenatal diagnosis of trisomies, biochemical disorders, and neural tube defects became possible and hence the proliferation of genetic counseling clinics. Maternal serum screening for neural tube defects and Down syndrome followed, taking the new discipline into social medicine. Safe amniocentesis needed ultrasound, and ultrasound soon found other applications in obstetrics, including scanning for fetal malformations. Progress in medical genetics demanded a gene map, and cytogeneticists initiated the mapping workshops that led to the human genome project and the complete sequence of the human genome. As a result, conventional karyotyping has been augmented by molecular cytogenetics, and molecular karyotyping has been achieved by microarrays. Genetic diagnosis at the level of the DNA sequence is with us at last. It has been a remarkable journey from disease phenotype to karyotype to genotype, and it has taken <50 years. Our mission now is to ensure that the recent advances such as prenatal screening, microarrays, and noninvasive prenatal diagnosis are available to our patients. History shows that it is by increased use that costs are reduced and better methods discovered. Chromosome research has been behind the major advances in our field, and it will continue to be the key to future progress, not least in our appreciation of chromosomal variation and its importance as a mechanism in Darwinian evolution.

  8. Automation or De-automation

    Science.gov (United States)

    Gorlach, Igor; Wessel, Oliver

    2008-09-01

    In the global automotive industry, for decades, vehicle manufacturers have continually increased the level of automation of production systems in order to be competitive. However, there is a new trend to decrease the level of automation, especially in final car assembly, for reasons of economy and flexibility. In this research, the final car assembly lines at three production sites of Volkswagen are analysed in order to determine the best level of automation for each, in terms of manufacturing costs, productivity, quality and flexibility. The case study is based on the methodology proposed by the Fraunhofer Institute. The results of the analysis indicate that fully automated assembly systems are not necessarily the best option in terms of cost, productivity and quality combined, which is attributed to high complexity of final car assembly systems; some de-automation is therefore recommended. On the other hand, the analysis shows that low automation can result in poor product quality due to reasons related to plant location, such as inadequate workers' skills, motivation, etc. Hence, the automation strategy should be formulated on the basis of analysis of all relevant aspects of the manufacturing process, such as costs, quality, productivity and flexibility in relation to the local context. A more balanced combination of automated and manual assembly operations provides better utilisation of equipment, reduces production costs and improves throughput.

  9. Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

    Institute of Scientific and Technical Information of China (English)

    Colombo; Sri Lanka

    2015-01-01

    Background: Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis. Methods: Cytogenetic reports of 1554 consecutive children with suspected chromosomal disorders who underwent karyotyping in two genetic centers in Sri Lanka from January 2006 to December 2011 were reviewed retrospectively. Results: A total of 1548 children were successfully karyotyped. Abnormal karyotypes were found in 783 (50.6%) children. Numerical and structural abnormalities accounted for 90.8% and 9.2%, respectively. Down syndrome was the commonest aneuploidy identifi ed. Other various autosomal and sex chromosomal aneuploidies as well as micro-deletion syndromes were also detected. Conclusions: The prevalence of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis for suspected chromosomal disorders was relatively higher than that in Caucasian and other Asian populations.

  10. A historical and modern perspective on plant cytogenetics.

    Science.gov (United States)

    Figueroa, Debbie M; Bass, Hank W

    2010-03-01

    Plant cytogenetics has continued to flourish and make essential contributions to genomics projects by delineating marker order, defining contig gaps and revealing genome rearrangements. Here we review the field of plant cytogenetics from its conception through the eras of molecular biology and genomics. Significant advances in chromosome preparation, such as extended fiber-FISH, have greatly increased the axial resolution limits, while imaging and signal amplification technologies have improved our ability to detect small gene-sized probes. Combinations of traditional FISH technologies with chromatin immunocytochemistry serve to broaden the ability of plant cytogenetics to shed light on genome structure and organization. These advances are described, together with selected examples that illustrate the power of plant cytogenetics in guiding genome projects.

  11. Clinical and molecular cytogenetics and gene mapping: principles and techniques.

    Science.gov (United States)

    Francke, U

    1995-01-01

    This article reviews the history of human cytogenetics with respect to technical advances from chromosome banding to molecular cytogenetics. Technologies such as in situ hybridization, chromosome painting, comparative genomic hybridization and interphase cytogenetics and their applications are discussed. The assignments of genes to chromosome regions by somatic cell genetics is illustrated by molecular analyses of somatic cell hybrid panels. The generation of complete physical maps of human chromosomes, by radiation hybrid mapping of sequence-tagged sites and establishment of chromosome-specific yeast artificial chromosome (YAC) banks and clone overlaps (contigs), is exemplified by studies of chromosome 18. The last section outlines the recent and future advances in clinical cytogenetics made possible by progress in molecular genetics.

  12. Molecular cytogenetics of pituitary adenomas, assessed by FISH technique.

    Science.gov (United States)

    Kontogeorgos, George

    2004-01-01

    Fluorescent in situ hybridization (FISH) represents a moden molecular pathology technique, alternative to conventional cytogenetics (karyotyping). In addition to metaphase spreads, it can be applied directly to interphase nuclei. The latter makes the FISH technique powerful for pathologists for it integrates molecular genetics and classic cytogenetics and brings them together to a single framework for morphologic evaluation. Interphase FISH can be applied to imprints from fresh tissue or to paraffin sections after proteinase K digestion. Centromeric, telomeric and locus DNA-sequence specific probes can be used to identify aneuploidy or gene mutations. Several protocols combine molecular cytogenetics with classic karyotyping. Other sophisticated, FISH-based protocols have been introduced. Among them, comparative genomic hybridization is very important for it can detect non-balanced chromosomal aberrations of uncultured tumor cells and provide overall genomic information in a single experiment. This review presents the principles and applications of FISH technique for the investigation of the cytogenetic background of pituitary adenomas.

  13. 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.

  14. An opportune life: 50 years in human cytogenetics.

    Science.gov (United States)

    Jacobs, Patricia A

    2014-01-01

    This article is one person's view of human cytogenetics over the past 50 years. The flowering of human cytogenetics led the way to the establishment of clinical genetics as one of the most important developments in medicine in the twentieth century. The article is written from the viewpoint of a scientist who never tired of analyzing the images of dividing cells on the light microscope and interpreting the wealth of information contained in them.

  15. Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers

    OpenAIRE

    2011-01-01

    From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics. Following single colour experiments, more fluorochromes were added, culminating in a 24 colour assay that could distinguish all human chromosomes. Interphase cytogenetics (the detection of chromosome copy number in interphase nuclei) soon followed, however 24 colour experiments are hampered for this application...

  16. Cytogenetic characterization of Aloysia virgata Ruiz and Pavan (Verbenaceae)

    OpenAIRE

    Aline Dias Brandão; Lyderson Facio Viccini; Shirlei Maria Recco-Pimentel

    2009-01-01

    Since previous cytogenetic reports of Aloysia have only described the meiotic behavior and chromosomal number of some species, the aim of this work was to provide detailed cytogenetic description of Aloysia virgata that would contribute to the understanding of the taxonomical organization of the Verbenaceae. Aloysia virgata had a karyotype with 2n = 36 metacentric chromosomes, all with similar size. The large amount of heterochromatin seen after Giemsa staining was confirmed by C-banding. Fou...

  17. 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; Raudsepp, Terje

    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.

  18. Human interphase chromosomes: a review of available molecular cytogenetic technologies

    Directory of Open Access Journals (Sweden)

    Yurov Yuri B

    2010-01-01

    Full Text Available Abstract Human karyotype is usually studied by classical cytogenetic (banding techniques. To perform it, one has to obtain metaphase chromosomes of mitotic cells. This leads to the impossibility of analyzing all the cell types, to moderate cell scoring, and to the extrapolation of cytogenetic data retrieved from a couple of tens of mitotic cells to the whole organism, suggesting that all the remaining cells possess these genomes. However, this is far from being the case inasmuch as chromosome abnormalities can occur in any cell along ontogeny. Since somatic cells of eukaryotes are more likely to be in interphase, the solution of the problem concerning studying postmitotic cells and larger cell populations is interphase cytogenetics, which has become more or less applicable for specific biomedical tasks due to achievements in molecular cytogenetics (i.e. developments of fluorescence in situ hybridization -- FISH, and multicolor banding -- MCB. Numerous interphase molecular cytogenetic approaches are restricted to studying specific genomic loci (regions being, however, useful for identification of chromosome abnormalities (aneuploidy, polyploidy, deletions, inversions, duplications, translocations. Moreover, these techniques are the unique possibility to establish biological role and patterns of nuclear genome organization at suprachromosomal level in a given cell. Here, it is to note that this issue is incompletely worked out due to technical limitations. Nonetheless, a number of state-of-the-art molecular cytogenetic techniques (i.e multicolor interphase FISH or interpahase chromosome-specific MCB allow visualization of interphase chromosomes in their integrity at molecular resolutions. Thus, regardless numerous difficulties encountered during studying human interphase chromosomes, molecular cytogenetics does provide for high-resolution single-cell analysis of genome organization, structure and behavior at all stages of cell cycle.

  19. Study on phenotypic and cytogenetic characteristics of bone marrow mesenchymal stem cells in myelodysplastic syndromes

    Institute of Scientific and Technical Information of China (English)

    宋陆茜

    2013-01-01

    Objective To investigate phenotype,cell differentiation and cytogenetic properties of bone marrow(BM) mesenchymal stem cells(MSC)separated from the myelodysplastic syndrome(MDS) patients,and to analyze cytogenetic

  20. 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...

  1. Results and Pitfalls in Prenatal Cytogenetic Diagnosis

    Science.gov (United States)

    Hsu, Lillian Y. F.; Dubin, Elyse C.; Kerenyi, Thomas; Hirschhorn, Kurt

    1973-01-01

    Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results of the affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1:47,XX,+21); (2) advanced maternal age: 54 cases (1:47,XXY; 1:45,X/46,XY mosaicism; 1:47,+18); (3) previous child with multiple anomalies: 12 cases; (4) previous child with 47,XY,+18 or 47,+13: five cases; (5) translocation carrier: two cases; (6) parental mosaicism: three cases; (7) X-linked disorders: six cases (3:XY); (8) others: 24 cases. We have found firstly, that for prenatal sex determination, karyotype analysis of the cultured amniotic fluid cells is the only accurate means and that caution must be taken if sex chromatin and Y-fluorescent body determination from the uncultured amniotic fluid cells is used. Secondly, that diagnosis of chromosomal mosaicism can be problematic as exemplified by our case of 45,X/46,XY mosaicism, where only 45,X cells were recovered from the first culture. Thirdly, that in cases with enlarged satellites, cells of late prophase or early metaphase must be used to eliminate confusion with translocations. We encountered three cases of enlarged satellites—one in the D group and two in the G group—and all three resulted in normal infants. Fourthly, that the karyotype may be altered by contamination and/or treatment or other unknown factors. We have observed two such cases where each mother delivered a normal infant. Images PMID:4268389

  2. Automating Finance

    Science.gov (United States)

    Moore, John

    2007-01-01

    In past years, higher education's financial management side has been riddled with manual processes and aging mainframe applications. This article discusses schools which had taken advantage of an array of technologies that automate billing, payment processing, and refund processing in the case of overpayment. The investments are well worth it:…

  3. [Half a century of human and medical cytogenetics].

    Science.gov (United States)

    Vago, P

    2009-01-01

    In 1956, the number of chromosomes in humans is set at 46; in 1959, the link between a disability (mongolism) and a chromosomal anomaly (the Down syndrome) is established: human and medical cytogenetics were born. Since then, progress has been remarkable: the techniques of chromosomal and molecular cytogenetics can reach a resolution of the size of a single gene with a pangenomic scope. Practical applications are constantly expanded. The clinical impact is significant, from the genetic counselling in constitutional to the targeted therapies. Fifty years later, cytogenetics can be defined as the science which aims to detect chromosomal abnormalities, whether constitutional or acquired, using chromosomal or molecular techniques aiming to study the arrangement of genes in chromosomes, to quantify the number of gene copy and to look for the presence of gene fusion.

  4. Molecular cytogenetics: recent developments and applications in cancer.

    Science.gov (United States)

    Das, K; Tan, P

    2013-10-01

    Aneuploidy or alteration in chromosome numbers is a characteristic feature in cancer that is generally a consequence of defective chromosome segregation during cell division. Molecular cytogenetic analyses have conferred substantial evidence with regards to the chromosomal architectures in cancer. Most importantly, the fluorescence in situ hybridization (FISH) technique that plays a leading role in diagnostic pathology for its single-cell analysis has provided crucial information regarding genomic variations in malignant cells. Further development of molecular cytogenetic methodologies such as chromosome specific FISH karyotyping and comparative genomic hybridization have also helped in the detection of cryptic genetic changes in cancer. But, the recent advancement of high throughput sequencing technologies have provided a more comprehensive genomic analyses resulting in novel chromosome rearrangements, somatic mutations as well as identification of fusion genes leading to new therapeutic targets. This review highlights the application of early molecular cytogenetics and the recent high throughput genomic approaches in characterizing various cancers and their invaluable support in cancer therapeutics.

  5. Cytogenetics in solid tumors: lessons from the Philadelphia Chromosome.

    Science.gov (United States)

    Sudoyo, Aru W; Hardi, Fransiska

    2011-01-01

    Although presently known as an environmentally-related disease and appears mostly sporadic, cancer is regarded as a genetic disease based on the presence of gene mutation as a consistent factor. The "Philadelphia Chromosome" found consistently among chronic myeloid leukemia (CML) patients was the first significant finding of a chromosomal abnormality specifically related to a particular disease. Starting from this point, cytogenetics as the study of chromosomes has become a valuable tool in the assessment of cancer - as an aid in diagnosis, thus guiding therapy, and as a prognostic marker. As is the nature of the proliferating marrow, chromosomal abnormalities were found mostly in hematologic malignancies, and the findings more pathognomonic. The situation is different in solid tumors, which when visible to the naked eye already will have complex chromosomal changes and thus pose technical difficulties to the cytogeneticist. However, scientists believe that the shift in chromosomal studies from conventional cytogenetics to molecular cytogenetics will provide further information regarding solid tumors.

  6. 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.

    2008-01-01

    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 multidisc

  7. 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.

    2008-01-01

    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 multidisc

  8. Cytogenetic findings in persons living near the Love Canal.

    Science.gov (United States)

    Heath, C W; Nadel, M R; Zack, M M; Chen, A T; Bender, M A; Preston, R J

    1984-03-16

    Cytogenetic analyses were performed on peripheral blood from 46 present or past residents of the area surrounding Love Canal, a former dump site for chemical wastes in Niagara Falls, NY. Participants included 17 persons in whom cytogenetic analyses had been performed in 1980 and 29 persons who had been living in 1978 in seven homes that directly adjoined the canal and in which environmental tests showed elevated levels of chemicals spreading from the canal. Frequencies of chromosomal aberrations and of sister chromatid exchange (SCE) did not differ significantly from control levels. For all participants, cigarette smoking was associated with an increase in sister chromatid exchange frequency.

  9. Genome duplication in early vertebrates: insights from agnathan cytogenetics.

    Science.gov (United States)

    Caputo Barucchi, V; Giovannotti, M; Nisi Cerioni, P; Splendiani, A

    2013-01-01

    Agnathans represent a remnant of a primitive offshoot of the vertebrates, and the long evolutionary separation between their 2 living groups, namely hagfishes and lampreys, could explain profound biological differences, also in karyotypes and genome sizes. Here, cytogenetic studies available on these vertebrates were summarized and data discussed with reference to the recently demonstrated monophyly of this group and to the 2 events of whole genome duplication (1R and 2R) characterizing the evolution of vertebrates. The comparison of cytogenetic data and phylogenetic relationships among agnathans and gnathostomes seems to support the hypothesis that 1R and 2R occurred before the evolutionary divergence between jawless and jawed vertebrates.

  10. The role of the Giemsa stain in cytogenetics.

    Science.gov (United States)

    Dolan, M

    2011-04-01

    In just half a century since the human diploid chromosome number was correctly identified as 46, there has been a rapid expansion in our understanding of both the genetic foundation of normal human development and the development of various constitutional and acquired abnormalities. The ability to detect numerical and structural chromosomal abnormalities was made possible by the Giemsa stain. Despite the recent advent of powerful molecular-based cytogenetic techniques (e.g., fluorescence in situ hybridization, array-based comparative genomic hybridization), Giemsa-based chromosomal banding and staining techniques retain their crucial role in cytogenetics.

  11. [From conventional cytogenetics to microarrays. Fifty years of Philadelphia chromosome].

    Science.gov (United States)

    Hernández, Jesús M; Granada, Isabel; Solé, Francesc

    2011-07-23

    In 1960 Ph-chromosome was found associated with the presence of chronic myelogenous leukemia. In these 50 years an increasing number of cytogenetic abnormalities have been found associated with hematological malignancies. The presence of these abnormalities is not only important for the diagnosis of the patient, but it also contributes to the prognosis of patients with leukemia or lymphoma. For this reason the WHO classification of hematological disease has included these studies for the correct characterization of leukemias and lymphomas. In addition, the use of FISH and micromatrix methodologies have refined the genetic lesions present in these malignancies. The cytogenetic changes observed also provide further information in relation to the therapy.

  12. Fluorescent in situ hybridization as an adjunct to conventional cytogenetics.

    Science.gov (United States)

    Mark, H F

    1994-01-01

    Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that exploits the availability of recombinant deoxyribonucleic acid (DNA) technology. In metaphase FISH, a specific nucleic acid sequence (probe) is bound to the homologous segment on a metaphase chromosome in a fixed preparation on a glass slide. The presence of a region-specific DNA sequence in a nondividing cell can be detected using interphase FISH. Interphase cytogenetics via FISH can be performed on fixed cells harvested during a routine culture, on tissue sections and on many cytologic specimens. Specific examples of clinical and research applications are discussed to illustrate the utility of FISH in the detection of constitutional and acquired chromosomal abnormalities.

  13. Heating automation

    OpenAIRE

    Tomažič, Tomaž

    2013-01-01

    This degree paper presents usage and operation of peripheral devices with microcontroller for heating automation. The main goal is to make a quality system control for heating three house floors and with that, increase efficiency of heating devices and lower heating expenses. Heat pump, furnace, boiler pump, two floor-heating pumps and two radiator pumps need to be controlled by this system. For work, we have chosen a development kit stm32f4 - discovery with five temperature sensors, LCD disp...

  14. Automation Security

    OpenAIRE

    Mirzoev, Dr. Timur

    2014-01-01

    Web-based Automated Process Control systems are a new type of applications that use the Internet to control industrial processes with the access to the real-time data. Supervisory control and data acquisition (SCADA) networks contain computers and applications that perform key functions in providing essential services and commodities (e.g., electricity, natural gas, gasoline, water, waste treatment, transportation) to all Americans. As such, they are part of the nation s critical infrastructu...

  15. Marketing automation

    OpenAIRE

    Raluca Dania TODOR

    2017-01-01

    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...

  16. 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.

  17. 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...

  18. Cytogenetic analysis of Cycloramphus boraceiensis Heyer (Anura, Leptodactylidae

    Directory of Open Access Journals (Sweden)

    Ana Paula Zampieri Silva

    2001-03-01

    Full Text Available Cytogenetic studies on Cycloramphus boraceiensis Heyer, 1983 collected in Picinguaba, Ubatuba, State of São Paulo are presented. The species has 2n=26 karyotype formed by metacentrics, submetacentrics, and one telocentric pair which carries Ag-NORs. The C-banding patterns is also described.

  19. Constructing a Cytogenetic Map of the Maize Genome

    Science.gov (United States)

    We are developing a pachytene cytogenetic FISH (Fluorescence in situ Hybridization) map of the maize (Zea mays L.) genome using maize marker-selected sorghum BACs (Bacterial Artificial Chromosome) as described by Koumbaris and Bass (2003, Plant J. 35:647). The two main projects are the production of...

  20. 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...

  1. 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...

  2. Practical Instruction in Tissue Culture and Cytogenetics for Sandwich Students.

    Science.gov (United States)

    Williams, D. C.; Bishun, N. P.

    1973-01-01

    Describes the training and practical techniques taught to students involved in a sandwich course at the Tissue Culture and Cytogenetics Unit of the Marie Curie Memorial Foundation, Surrey, England. Students spend a minimum of six months involved in the sandwich course before returning to university for a final academic year. (JR)

  3. Molecular cytogenetics: an indispensable tool for cancer diagnosis.

    Science.gov (United States)

    Wan, Thomas Sk; Ma, Edmond Sk

    2012-01-01

    Cytogenetic aberrations may escape detection or recognition in traditional karyotyping. The past decade has seen an explosion of methodological advances in molecular cytogenetics technology. These cytogenetics techniques add color to the black and white world of conventional banding. Fluorescence in-situ hybridization (FISH) study has emerged as an indispensable tool for both basic and clinical research, as well as diagnostics, in leukemia and cancers. FISH can be used to identify chromosomal abnormalities through fluorescent labeled DNA probes that target specific DNA sequences. Subsequently, FISH-based tests such as multicolor karyotyping, comparative genomic hybridization (CGH) and array CGH have been used in emerging clinical applications as they enable resolution of complex karyotypic aberrations and whole global scanning of genomic imbalances. More recently, crossspecies array CGH analysis has also been employed in cancer gene identification. The clinical impact of FISH is pivotal, especially in the diagnosis, prognosis and treatment decisions for hematological diseases, all of which facilitate the practice of personalized medicine. This review summarizes the methodology and current utilization of these FISH techniques in unraveling chromosomal changes and highlights how the field is moving away from conventional methods towards molecular cytogenetics approaches. In addition, the potential of the more recently developed FISH tests in contributing information to genetic abnormalities is illustrated.

  4. Fluorescence in situ hybridization applied to domestic animal cytogenetics.

    Science.gov (United States)

    Rubes, J; Pinton, A; Bonnet-Garnier, A; Fillon, V; Musilova, P; Michalova, K; Kubickova, S; Ducos, A; Yerle, M

    2009-01-01

    The aim of this article is not to present an exhaustive review of molecular cytogenetics applications in domestic animal species, but more to illustrate the considerable contribution of these approaches in diagnostics and research in economically important species. A short presentation of the main applications of molecular cytogenetics in humans points out the domains in which it has become an essential tool and underlines the specificities attached to this species in comparison to farm animals. This article is devoted to outlining the current resources available in domestic species and to some examples of fluorescence in situ hybridization applications in the cattle, pig, horse and avian species. From a clinical point of view, these examples illustrate the advantages of FISH for the study of chromosomal abnormalities (identification, characterization and estimation of their effects). Other applications of molecular cytogenetics are also illustrated, particularly ZOO-FISH, an approach which allows the determination of chromosome homologies between species. Finally, a specific emphasis was placed on the usefulness of molecular cytogenetics for the analysis of species such as poultry, which harbour a complex karyotype.

  5. 细胞遗传学技术在辐射生物剂量估算中的应用%Application of Cytogenetic Techniques in Evaluation of Ionizing Radiation Biodosimetry

    Institute of Scientific and Technical Information of China (English)

    郝义彬; 陈晓培; 吕玉民

    2005-01-01

    细胞遗传学技术作为生物剂量测定方法,已在生物剂量估算特别是急性照射剂量估算方面得到广泛应用和验证.本文重点综述染色体畸变、微核、早熟染色体凝集作为生物剂量测定方法在剂量估算应用中的优缺点,扼要介绍近年来发展起来的一些分子生物学指标用作生物计量估算的进展.

  6. 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,...

  7. 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. .

  8. 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.

  9. Chorionic villus sampling in continuing pregnancies. II. Cytogenetic reliability.

    Science.gov (United States)

    Martin, A O; Simpson, J L; Rosinsky, B J; Elias, S

    1986-06-01

    Cytogenetic analysis was performed on 103 chorionic villus samples. Analysis of the 103 samples revealed six abnormalities. In three of the six the abnormalities were confirmed in fetal or neonatal tissue (47,XY, + 13; 46,XY, t(13q13q); 45,X). In three samples the abnormalities detected were not confirmed; in two of the three the abnormalities were detected only in long-term cultures, whereas in the other samples the abnormality was restricted to direct analysis of the villi after overnight incubation. Our initial experience leads us to conclude that certain abnormalities in chorionic villus sampling may not be indicative of fetal abnormalities; 45,X/46,XX or 45,X/46,XY mosaicism is such a complement. Discrepancies between cytogenetic analysis of intact villi processed soon after sampling and of cells grown in culture can be managed by adhering to several suggested guidelines and by liberal use of confirmatory amniocentesis.

  10. Cytogenetic analysis from DNA by comparative genomic hybridization.

    Science.gov (United States)

    Tachdjian, G; Aboura, A; Lapierre, J M; Viguié, F

    2000-01-01

    Comparative genomic hybridization (CGH) is a modified in situ hybridization technique which allows detection and mapping of DNA sequence copy differences between two genomes in a single experiment. In CGH analysis, two differentially labelled genomic DNA (study and reference) are co-hybridized to normal metaphase spreads. Chromosomal locations of copy number changes in the DNA segments of the study genome are revealed by a variable fluorescence intensity ratio along each target chromosome. Since its development, CGH has been applied mostly as a research tool in the field of cancer cytogenetics to identify genetic changes in many previously unknown regions. CGH may also have a role in clinical cytogenetics for detection and identification of unbalanced chromosomal abnormalities.

  11. Cytogenetics of intergeneric hybrids between Brassica species and Orychophragmus violaceus

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    In the sexual intergeneric hybrids between the cultivated Brassica species and Orychophragmus violaceus, both complete separation and partial separation of the parental genomes were found to occur during mitosis and meiosis under genetic control. The cytogenetics of these hybrids was species-specific for Brassica parents. The different chromosome behavior of hybrids with three Brassica diploids ( B. campestris , B. nigra and B. oleracea ) might contribute to the different cytogenetics of hybrids with three tetraploids ( B. napus, B. juncea and B. carinata). Owing to the parental genome separation, Brassica homozygous plants and aneuploids with various chromosome constitutions were identifiable in the progenies of these hybrids, which were valuable for the study of the structure and evolution of Brassica genome and for the breeding of Brassica crops.

  12. Transcript Analysis for Internal Biodosimetry Using Peripheral Blood from Neuroblastoma Patients Treated with (131)I-mIBG, a Targeted Radionuclide.

    Science.gov (United States)

    Edmondson, David A; Karski, Erin E; Kohlgruber, Ayano; Koneru, Harsha; Matthay, Katherine K; Allen, Shelly; Hartmann, Christine L; Peterson, Leif E; DuBois, Steven G; Coleman, Matthew A

    2016-09-01

    Calculating internal dose from therapeutic radionuclides currently relies on estimates made from multiple radiation exposure measurements, converted to absorbed dose in specific organs using the Medical Internal Radiation Dose (MIRD) schema. As an alternative biodosimetric approach, we utilized gene expression analysis of whole blood from patients receiving targeted radiotherapy. Collected blood from patients with relapsed or refractory neuroblastoma who received (131)I-labeled metaiodobenzylguanidine ((131)I-mIBG) at the University of California San Francisco (UCSF) was used to compare calculated internal dose with the modulation of chosen gene expression. A total of 40 patients, median age 9 years, had blood drawn at baseline, 72 and 96 h after (131)I-mIBG infusion. Whole-body absorbed dose was calculated for each patient based on the cumulated activity determined from injected mIBG activity and patient-specific time-activity curves combined with (131)I whole-body S factors. We then assessed transcripts that were the most significant for describing the mixed therapeutic treatments over time using real-time polymerase chain reaction (RT-PCR). Modulation was evaluated statistically using multiple regression analysis for data at 0, 72 and 96 h. A total of 10 genes were analyzed across 40 patients: CDKN1A; FDXR; GADD45A; BCLXL; STAT5B; BAX; BCL2; DDB2; XPC; and MDM2. Six genes were significantly modulated upon exposure to (131)I-mIBG at 72 h, as well as at 96 h. Four genes varied significantly with absorbed dose when controlling for time. A gene expression biodosimetry model was developed to predict absorbed dose based on modulation of gene transcripts within whole blood. Three transcripts explained over 98% of the variance in the modulation of gene expression over the 96 h (CDKN1A, BAX and DDB2). To our knowledge, this is a novel study, which uses whole blood collected from patients treated with a radiopharmaceutical, to characterize biomarkers that may be useful

  13. 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

  14. Some historical aspects of plant cytogenetics in Argentina and Uruguay

    Directory of Open Access Journals (Sweden)

    Juan H. Hunziker

    2000-12-01

    Full Text Available A brief account is given of the origin and development of plant cytogenetics in Argentina and Uruguay, along with some of the factors that hampered the development of this area.Uma breve narrativa é dada sobre a origem e desenvolvimento de citogenética em plantas na Argentina e Uruguai, juntamente com alguns fatores que prejudicaram o desenvolvimento desta area.

  15. Sturgeon genetics and cytogenetics: recent advancements and perspectives.

    Science.gov (United States)

    Fontana, F; Tagliavini, J; Congiu, L

    2001-01-01

    The aim of this review is to introduce current knowledge in the field of sturgeon genetics. The first section deals with sturgeon cytogenetics, reviewing karyotype organization and polyploidization events during evolution of Acipenseriformes. The second section concerns the results of applications of molecular biology to studies of phylogenetic relationships between extant species, intraspecific analysis of wild populations and stocks for conservation purposes, together with characterization of molecular markers for species identification, relevant to forensic and conservation issues.

  16. Nanotechnology and molecular cytogenetics: the future has not yet arrived

    OpenAIRE

    2010-01-01

    Quantum dots (QDs) are a novel class of inorganic fluorochromes composed of nanometer-scale crystals made of a semiconductor material. They are resistant to photo-bleaching, have narrow excitation and emission wavelengths that can be controlled by particle size and thus have the potential for multiplexing experiments. Given the remarkable optical properties that quantum dots possess, they have been proposed as an ideal material for use in molecular cytogenetics, specifically the technique of ...

  17. Use of chromosome microdissection in fish molecular cytogenetics

    OpenAIRE

    2008-01-01

    Chromosome microdissection is a technique in which whole chromosomes or chromosomal segments are dissected under an inverted microscope yielding chromosome-specific sequences. Several protocol modifications introduced during the past 15 years reduced the number of chromosomes required for most applications. This is of particular interest to fish molecular cytogenetics, since most species present highly uniform karyotypes which make impossible the collection of multiple copies of the same chro...

  18. Cytogenetic analysis in 61 couples with spontaneous abortions

    Institute of Scientific and Technical Information of China (English)

    江静; 傅曼芬; 王德芬

    2001-01-01

    Objective To examine the relationship between spontaneous abortion and chromosomal abnormalities. Methods Couples who had one or more consecutive spontaneous abortions and had normal genitals were enrolled for cytogenetic karyotype analysis. Results In the 61 couples, the detected incidence was 11.5%, with five Robertsonian translocations, one reciprocal translocation, and one pericentric inversion of chromosome 7. Conclusion Chromosomal abnormalities may play an important role in fetal wastage.

  19. 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.

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

    Science.gov (United States)

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

    2017-03-18

    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.

  1. Molecular cytogenetic analysis of dicentric chromosomes in acute myeloid leukemia.

    Science.gov (United States)

    Sarova, Iveta; Brezinova, Jana; Zemanova, Zuzana; Ransdorfova, Sarka; Izakova, Silvia; Svobodova, Karla; Pavlistova, Lenka; Berkova, Adela; Cermak, Jaroslav; Jonasova, Anna; Siskova, Magda; Michalova, Kyra

    2016-04-01

    Dicentric chromosomes (DCs) have been described in many hematological diseases, including acute myeloid leukemia (AML). They are markers of cancer and induce chromosomal instability, leading to the formation of other chromosomal aberrations and the clonal evolution of pathological cells. Our knowledge of the roles and behavior of human DCs is often derived from studies of induced DCs and cell lines. It is difficult to identify all the DCs in the karyotypes of patients because of the limitations of metaphase cytogenetic methods. The aim of this study was to revise the karyotypes of 20 AML patients in whom DCs were found with conventional G-banding or multicolor fluorescence in situ hybridization (mFISH) with (multi)centromeric probes and to characterize the DCs at the molecular cytogenetic level. FISH analyses confirmed 23 of the 29 expected DCs in 18 of 20 patients and identified 13 others that had not been detected cytogenetically. Fourteen DCs were altered by other chromosomal changes. In conclusion, karyotypes with DCs are usually very complex, and we have shown that they often contain more than one DC, which can be missed with conventional or mFISH methods. Our study indicates an association between number of DCs in karyotype and very short survival of patients.

  2. Cytogenetics of the true bug infraorder Cimicomorpha (Hemiptera, Heteroptera): a review

    OpenAIRE

    Valentina Kuznetsova; Snejana Grozeva; Seppo Nokkala; Christina Nokkala

    2011-01-01

    Abstract The Cimicomorpha is one of the largest and highly diversified infraorders of the Heteroptera. This group is also highly diversified cytogenetically and demonstrates a number of unusual cytogenetic characters such as holokinetic chromosomes; m-chromosomes; multiple sex chromosome systems; post-reduction of sex chromosomes in meiosis; variation in the presence/absence of chiasmata in spermatogenesis; different types of achiasmate meiosis. We present here a review of essential cytogenet...

  3. Cytogenetic Study in Children with Down Syndrome Among Kosova Albanian Population Between 2000 and 2010

    OpenAIRE

    Kolgeci, Selim; Kolgeci, Jehona; Azemi, Mehmedali; Shala-Beqiraj, Ruke; Gashi, Zafer; Sopjani, Mentor

    2013-01-01

    Conflict of interest: none declared. Aim The aim of this research was to ascertain the frequency of three basic cytogenetical types of Down syndrome among Kosova Albanian population and to evaluate the maternal age effect on the frequency of births of children with Down syndrome. Methods Cytogenetics diagnosis has been made according to the standard method of Moorhead and Seabright. Results In the time period 2000-2010 cytogenetics diagnosis of overall 305 children with Down syndrome has been...

  4. The importance of histology and cytogenetics in decision making for renal cell carcinoma.

    Science.gov (United States)

    Garcia, Julia G; Picken, Maria M; Flanigan, Robert C

    2008-04-01

    The role of histology and cytogenetics in the diagnosis of renal cell carcinoma continues to evolve. The symbiotic relationship between histology and cytogenetics helps assure the most accurate diagnosis. Prognostic factors are known and continue to be undiscovered. Patient counseling certainly benefits from this information. Further knowledge and differentiation of renal cell carcinoma disease pathways has allowed for the development of targeted therapies. The benefit of these therapies hinges on the critical diagnosis attained via the role of histology and cytogenetics.

  5. Successful treatment of acute myelogenous leukemia with favorable cytogenetics by reduced-intensity stem cell transplantation.

    Science.gov (United States)

    Kondo, Takeshi; Yasumoto, Atsushi; Arita, Kotaro; Sugita, Jun-Ichi; Shigematsu, Akio; Okada, Kohei; Takahata, Mutsumi; Onozawa, Masahiro; Kahata, Kaoru; Takeda, Yukari; Obara, Masato; Yamamoto, Satoshi; Endo, Tomoyuki; Nishio, Mitsufumi; Sato, Norihiro; Tanaka, Junji; Hashino, Satoshi; Koike, Takao; Asaka, Masahiro; Imamura, Masahiro

    2010-03-01

    Acute myelogenous leukemia (AML) with favorable cytogenetics responds well to chemotherapy. If the leukemia relapses, allogenic hematopoietic stem transplantation (allo-HSCT) is considered as a treatment option. Since the efficacy of reduced-intensity stem cell transplantation (RIST) for AML with favorable cytogenetics has not been established, we retrospectively analyzed the outcomes of allo-HSCT in AML patients according to cytogenetic risks. The outcome of allo-HSCT for AML patients with favorable cytogenetics seemed to be superior to that for AML patients with intermediate cytogenetics. In AML patients with favorable cytogenetics, the 3-year overall survival (OS) and relapse-free survival (RFS) rates were 88 and 76%, respectively, in the RIST group. Both the 3-year OS and RFS rates were 81% in the conventional stem cell transplantation (CST) group. The outcome of RIST for AML patients with favorable cytogenetics was comparable to that for patients who received CST despite the more advanced age and greater organ dysfunction in RIST group than in CST group. None of the patients died within 90 days after RIST. Moreover, there was no relapse in patients with favorable cytogenetics who were in hematological remission prior to RIST. Thus, RIST for AML patients with favorable cytogenetics in remission is safe and effective.

  6. [Prognostic significance of cytogenetics in aged patients with acute myeloid leukemia].

    Science.gov (United States)

    Lin, Jie; Zhu, Hong-Li

    2015-04-01

    Aged patients with acute myeloid leukemia accounted for more than half of the adult AML patients, which has characteristics of low complete remission rate, short overall survival and poor prognosis. Recently, the importance of cytogenetics in AML was gradually realized. The diagnosis and typing, prognosis stratification and guide for treatment are performed on the basis of cytogenetics, but the research on influence of cytogenetics on adged patients with AML are relatively few. This review briefly summarizes the prognostic significance of cytogenetics in aged patients with AML.

  7. 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

  8. The study on relationship between age and cytogenetic subgroups in 640 patients with de novo acute myeloid leukemia

    Institute of Scientific and Technical Information of China (English)

    苏龙

    2013-01-01

    Objective To analyze the cytogenetic characteristicsof different age subgroups in patients with acute myeloid leukemia(AML),and to explore the relationship between age and cytogenetics.Methods Between

  9. Manufacturing and automation

    Directory of Open Access Journals (Sweden)

    Ernesto Córdoba Nieto

    2010-04-01

    Full Text Available The article presents concepts and definitions from different sources concerning automation. The work approaches automation by virtue of the author’s experience in manufacturing production; why and how automation prolects are embarked upon is considered. Technological reflection regarding the progressive advances or stages of automation in the production area is stressed. Coriat and Freyssenet’s thoughts about and approaches to the problem of automation and its current state are taken and examined, especially that referring to the problem’s relationship with reconciling the level of automation with the flexibility and productivity demanded by competitive, worldwide manufacturing.

  10. 40 CFR 798.5395 - In vivo mammalian bone marrow cytogenetics tests: Micronucleus assay.

    Science.gov (United States)

    2010-07-01

    ... cytogenetics tests: Micronucleus assay. 798.5395 Section 798.5395 Protection of Environment ENVIRONMENTAL... Genetic Toxicity § 798.5395 In vivo mammalian bone marrow cytogenetics tests: Micronucleus assay. (a) Purpose. The micronucleus test is a mammalian in vivo test which detects damage of the chromosomes...

  11. Methylphenidate and Amphetamine Do Not Induce Cytogenetic Damage in Lymphocytes of Children with ADHD

    Science.gov (United States)

    Witt, Kristine L.; Shelby, Michael D.; Itchon-Ramos, Nilda; Faircloth, Melissa; Kissling, Grace E.; Chrisman, Allan K.; Ravi, Hima; Murli, Hemalatha; Mattison, Donald R.; Kollins, Scott H.

    2008-01-01

    The inducement of chromosomal damage in lymphocytes among children with attention deficit hyperactivity disorder receiving treatment with methylphenidate- or amphetamine-based drugs is investigated. Findings did not reveal significant increases in cytogenetic damage related to the treatment. The risk for cytogenetic damage posed by such products…

  12. 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…

  13. [Comparative molecular cytogenetic characterization of partial wheat-wheatgrass hybrids].

    Science.gov (United States)

    Krupin, P Yu; Divashuk, M G; Belov, V I; Glukhova, L I; Aleksandrov, O S; Karlov, G I

    2011-04-01

    The chromosomal composition of the Zernokormovaya 169, Istra 1, Ostankinskaya, and Otrastayushchaya 38 cultivars of octoploid partial wheat-wheatgrass hybrids was studied using genomic in situ hybridization (GISH). Differentiation of wheatgrass chromosomes by the distribution of the GISH signal along the chromosome was revealed. The wheatgrass chromosomes of the hybrid cultivars studied in the work differed in the type of differentiation, centromeric index, and absolute size. The cytogenetic distinctions of these chromosomes revealed by us can be used in making crosses and in studying the transmission through gametes of additional wheatgrass chromosomes.

  14. Cytogenetics. An evolving role in the diagnosis and treatment of cancer.

    Science.gov (United States)

    Glassman, A B

    1997-03-01

    Conventional cytogenetics has been used for many years in the diagnosis and follow-up of myeloproliferative disorders. Molecular techniques including FISH and gene rearrangements are complementary in the evaluation of myeloproliferative and myelodysplastic disorders. Lymphomas and lymphocytic leukemias have nonrandom cytogenetic patterns that are useful in the clinical diagnosis, prognosis, and therapeutic follow-up. Solid tumors have complex karyotypic and genetic abnormalities, and clinical utilization of conventional cytogenetics and molecular techniques is in the developmental stages of applicability. The benefits of karyotype analysis in myeloproliferative and lymphoproliferative diseases include guidance for diagnostic and therapeutic approaches as well as assessment of minimal residual disease. Conventional cancer cytogenetics and commercially available FISH reagents enhance these applications. Molecular diagnostic techniques are analytically sensitive and specific. The complexities of the function and role of genetic abnormalities in solid tumors present challenges in the choice, interpretation, and application of conventional cytogenetic and molecular data. These challenges offer exciting potential for future advances.

  15. 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....

  16. 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...

  17. 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.

  18. Development of a new biodosimetry of serum iron%血清铁生物剂量计的可行性研究

    Institute of Scientific and Technical Information of China (English)

    谢丽华; 张晓红; 胡晓丹; 陈峰; 张泽群; 李群; 张海黔

    2016-01-01

    The aim is to study the serum iron changesin vitro serum of human peripheral blood irradiated by Co-60γ-rays and explore its feasibility as a biodosimetry. To establish the dose-response relationship, the concentration of serum iron inγ-rays irradiated serum was detected using ELISA (Enzymes linked immunosorbent assay). The results demonstrated that serum iron level increased with absorbed dose, and the dose-response curve of serum iron concentration followed the linear-quadratic model: male [y=30 676.5+2 383.5x–202.7x2 (r=0.99)], female [y=26 974.4+ 1 611.8x–141.3x2 (r=0.98)]. Time-response relationship of 4 Gy demonstrated that the serum iron was stable within 2 d. With the dose-response linear-quadratic curve, the absorbed dose was close to the double-blind dose (1, 2 and 4 Gy), and the 95% confidence interval of the estimated value was narrow. Therefore, the serum iron has the potential to be a new biodosimetry to reconstruct human exposure dose.%研究人体外周血血清经急性 γ 射线照射后血清铁的浓度变化,探讨其作为生物剂量计的可行性.人体血清经不同剂量γ射线辐照,采用酶联免疫吸附试验 (Enzymes linked immunosorbent assay, ELISA)法定量检测血清铁的浓度,建立血清铁浓度与吸收剂量之间的剂量?效应关系.结果显示,血清铁浓度随吸收剂量升高,血清铁浓度与吸收剂量成线性平方关系:男性[y=30 676.5+2 383.5x–202.7x2(r=0.99)];女性 [y=26 974.4+ 1 611.8x–141.3x2 (r=0.98)].4 Gy剂量时间?效应关系研究发现离体血清铁在2 d内维持稳定.利用建立的线性平方剂量?效应曲线估算的吸收剂量与双盲剂量(1、2、4 Gy)接近,估算值的95%置信区间较窄.研究结果提示血清铁具有重建人体吸收剂量的潜能.

  19. 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

  20. Cytogenetic effects of cadmium accumulation on water hyacinth (Eichhornia crassipes)

    Energy Technology Data Exchange (ETDEWEB)

    Rosas, I.; Carbajal, M.E.; Gomez-Arroyo, S.; Belmont, R.; Villalobos-Pietrini, R.

    1984-04-01

    Cadmium was bioassayed to observe cytogenetic effects in the water hyacinth (Eichhornia crassipes). Plants were exposed for 96 hr to freshwater containing 0.01, 0.05, 0.10, 1, 5, and 10 mg/liter of cadmium. Metal concentrations in tissues were determined by atomic absorption spectrophotometry. The highest level was found in roots, thus root-tip cells were used for cytogenetic studies; after 24 hr of exposure, micronuclei, c-mitotic effects, and pycnosis were detected and after 48 hr polyploidy was observed. A linear relationship between frequencies of micronuclei and cadmium concentrations was found; at 1, 5, and 10 mg/liter micronuclei numbers were always the lowest. The inhibition of cell proliferation, shown by the low mitotic index, was proportional to the concentration and time of exposure. From the results presented in this paper it may be concluded that water hyacinth is a good sensor, due to its fast rate of metal accumulation, which allows an easy way to determine the presence of potential mutagenic compounds in water. 63 references.

  1. Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy.

    Science.gov (United States)

    Loft, A; Tabor, A

    1984-01-01

    From 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow-up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogenetic errors in this study was very low.

  2. Molecular and cytogenetic assessment of Dipterygium glaucum genotoxicity

    Directory of Open Access Journals (Sweden)

    NADA H. ALTWATY

    2016-01-01

    Full Text Available ABSTRACT The aim of the present study is to assess the genotoxicity of Dipterygium glaucum grows widely in Saudi Arabia desert to produce safety herbal products. This work is considered the first and pioneer report so far due to the lack and poor evaluated reports of the plant species for their mutagensity, genotoxicity and cytogenetics effects. Cytogenetic effects of D. glaucum on mitotic in roots of Vicia faba showed reduction in mitotic activity using three extracts; water, ethanol and ethyl acetate. Chromosomal abnormalities were recorded that included stickiness of chromosomes, chromatin bridge, fragments, lagging chromosome and micronuclei. Protein bands and RAPD analyses of V. faba treated with three D. glaucum extracts revealed some newly induced proteins and DNA fragments and other disappeared. Chemical constitution of the plant species should be identified with their biological activities against human and animal cells like HeLa cancer cell line. We are recommending using additional genotoxicity tests and other toxicity tests on animal culture with different concentrations and also utilizing several drought and heat tolerant genes of the plant species in gene cloning to develop and improve other economical crop plants instead of using the species as oral herbal remedy

  3. Molecular and cytogenetic assessment of Dipterygium glaucum genotoxicity.

    Science.gov (United States)

    Altwaty, Nada H; El-Sayed, Osama E; Aly, Nariman A H; Baeshen, Mohamed N; Baeshen, Nabih A

    2016-01-01

    The aim of the present study is to assess the genotoxicity of Dipterygium glaucum grows widely in Saudi Arabia desert to produce safety herbal products. This work is considered the first and pioneer report so far due to the lack and poor evaluated reports of the plant species for their mutagensity, genotoxicity and cytogenetics effects. Cytogenetic effects of D. glaucum on mitotic in roots of Vicia faba showed reduction in mitotic activity using three extracts; water, ethanol and ethyl acetate. Chromosomal abnormalities were recorded that included stickiness of chromosomes, chromatin bridge, fragments, lagging chromosome and micronuclei. Protein bands and RAPD analyses of V. faba treated with three D. glaucum extracts revealed some newly induced proteins and DNA fragments and other disappeared. Chemical constitution of the plant species should be identified with their biological activities against human and animal cells like HeLa cancer cell line. We are recommending using additional genotoxicity tests and other toxicity tests on animal culture with different concentrations and also utilizing several drought and heat tolerant genes of the plant species in gene cloning to develop and improve other economical crop plants instead of using the species as oral herbal remedy.

  4. The results of cytogenetic analyses in prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Jovanović-Privrodski Jadranka

    2007-01-01

    Full Text Available Introduction. G-banding and other classical cytogenetic methods are still in use, together with molecular cytogenetic techniques such as FISH (Fluorescence In Situ Hybridization and SKY (Spectral Karyotyping. Material and methods. This retrospective study evaluated clinical data on individuaols seeking genetic counseling over a 15-year period (1992 - 2007 at the Medical Genetic Center, Child and Youth Health Care Institute of Vojvodina in Novi Sad. The study included 37.191 genetic counselings, and 20.607 prenatal analyses (amniocentesis and cordocentesis. Results Over a 15-year period (1992 - 2007 17.937 amniotic fluid samples were analyzed and 274 abnormal karyotypes were found; out of 2.670 fetal blood samples, there were 78 abnormal karyotypes. During a 15-year period, prenatal diagnosis, using amniocentesis and/or cordocentesis, showed 352 fetuses with chromosomal aberrations. Discussion. On average, over the past 15-year period, 8% of pregnancies were controlled with invasive prenatal procedures. The percentage has changed; in fact, it is increasing from year to year. In 1992, only 0.82% (N=139/17000 of pregnant women in Vojvodina underwent invasive prenatal procedures, and in 2006 the rate increased to 15.65% (N=2660/17000. Conclusion. It is necessary to improve and promote the possibilities of genetic counseling and invasive prenatal diagnosis in order to prevent the occurrence of chromosomal aberrations and other genetic diseases.

  5. Hypergranular promyelocytic leukemia (APL): cytogenetic and ultrastructural specificity

    Energy Technology Data Exchange (ETDEWEB)

    Testa, J.R.; Golomb, H.M.; Rowley, J.D.; Vardiman, J.W.; Sweet, D.L. Jr.

    1978-08-01

    Cytogenetic and ultrastructural findings were important diagnostic indicators of hypergranular promyelocytic leukemia (APL) in a patient whose bone marrow morphology appeared, by light microscopy, to be similar to that in acute myeloblastic leukemia (AML) with maturation. Peripheral blood smears and bone marrow specimens examined by light microscopy showed few cells with the numerous coarse, azurophilic granules typical of APL. Cytogenetic analyses, with several banding techniques, of cells from bone marrow and unstimulated peripheral blood revealed the 15; 17 translocation, which has been observed only in APL. A reinterpretation of the reciprocal translocation, based on R banding, suggests that the breakpoints are distal to q24 in No. 15 and at or near the junction of q21 and q22 in No. 17. In addition, the patient had disseminated intravascular coagulation. The characteristic morphology of granules seen in APL was observed in this case only when transmission electron microscopy was used, since the granules were quite small. Since treatment for AML differs from that for APL, identification of the 15; 17 translocation and ultrastructural evidence of granules represents valuable diagnostic aids for APL.

  6. [Dicentric Y chromosomes. First part: cytogenetic and molecular aspects].

    Science.gov (United States)

    Bouayed Abdelmoula, N; Amouri, A

    2005-01-01

    Dicentric Y chromosomes have been reviewed twice in 1994 by Hsu et al. and in 1995 by Tuck-Muller et al. who showed that dic(Y) are the most common Y structural abnormalities and that their influence on gonadal and somatic development is extremely variable. The prediction of their phenotypic consequences is often difficult because of the variety of genomic sequences concerned by duplications and deletions, because of the variable degrees of mosaicism (cell line 45,X in particular) and at the end, because of identification and analysis technical difficulties of the structure of the rearranged Y chromosome. The clinical specter of this cytogenetic abnormality is rather wide going from almost-normal or infertile males, to females with or without stigmas of Turner syndrome. Middle phenotypes consist of various degrees of genital ambiguities. However, clinical expression seems to be related to the genomic capital of the Y chromosome, mainly the Y genes involved in the control of the process of the determination of gonads (Yp) and spermatogenesis (Yq) as well as control of the growth and the skeletal development (Yp). Here, we report a third comprehensive review of the literature concerning dicentric Y chromosomes reported since 1994. In the light of previous reviews as well as the recent data of the genetic cartography of the Y chromosome, we try, in this first part, to determine characteristics of reported dicentric Y chromosomes as well as their chromosomal mechanics, their mitotic stability and finally their cytogenetic and molecular investigations.

  7. 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.

  8. Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers.

    Science.gov (United States)

    Ioannou, D; Meershoek, E J; Thornhill, A R; Ellis, M; Griffin, D K

    2011-01-01

    From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics. Following single colour experiments, more fluorochromes were added, culminating in a 24 colour assay that could distinguish all human chromosomes. Interphase cytogenetics (the detection of chromosome copy number in interphase nuclei) soon followed, however 24 colour experiments are hampered for this application as mixing fluorochromes to produce secondary colours produces images that are not easily distinguishable from overlapping signals. This study reports the development and use of a novel protocol, new fast hybridising FISH probes, and a bespoke image capture system for the assessment of chromosome copy number in interphase nuclei. The multicolour probe sets can be used individually or in sequential hybridisation layers to assess ploidy of all 24 human chromosomes in the same nucleus. Applications of this technique are in the investigation of chromosome copy number and the assessment of nuclear organisation for a range of different cell types including human sperm, cancer cells and preimplantation embryos.

  9. Molecular cytogenetic applications in analysis of the cancer genome.

    Science.gov (United States)

    Rao, Pulivarthi H; Nandula, Subhadra V; Murty, Vundavalli V

    2007-01-01

    Cancer cells exhibit nonrandom and complex chromosome abnormalities. The role of genomic changes in cancer is well established. However, the identification of complex and cryptic chromosomal changes is beyond the resolution of conventional banding methods. The fluorescence microscopy afforded by imaging technologies, developed recently, facilitates a precise identification of these chromosome alterations in cancer. The three most commonly utilized molecular cytogenetics methods comparative genomic hybridization, spectral karyotype, and fluorescence in situ hybridization, that have already become benchmark tools in cancer cytogenetics, are described in this chapter. Comparative genomic hybridization is a powerful tool for screening copy-number changes in tumor genomes without the need for preparation of metaphases from tumor cells. Multicolor spectral karyotype permits visualization of all chromosomes in one experiment permitting identification of precise chromosomal changes on metaphases derived from tumor cells. The uses of fluorescence in situ hybridization are diverse, including mapping of alteration in single copy genes, chromosomal regions, or entire chromosomes. The opportunities to detect genetic alterations in cancer cells continue to evolve with the use of these methodologies both in diagnosis and research.

  10. Systematics of Mepraia (Hemiptera-Reduviidae): cytogenetic and molecular variation.

    Science.gov (United States)

    Calleros, L; Panzera, F; Bargues, M D; Monteiro, F A; Klisiowicz, D R; Zuriaga, M A; Mas-Coma, S; Pérez, R

    2010-03-01

    The haematophagous insects of the subfamily Triatominae (Hemiptera-Reduviidae) have great epidemiological importance as vectors of Trypanosoma cruzi, the causative agent of Chagas disease. Mepraia was originally described as a monotypic genus comprised of Mepraia spinolai, distributed along coastal areas of northern Chile (from Region I to the Metropolitan Region). Recently, some M. spinolai populations have been ranked as a new species named Mepraia gajardoi. Several populations along the distribution range of the genus were sampled, and genetic differentiation was studied based upon the analysis of three molecular markers: cytogenetics (karyotype and chromosome behaviour during meiosis using the C-banding technique), mitochondrial DNA (a cytochrome oxidase I gene fragment), and nuclear ribosomal DNA (intergenic region including the two internal transcribed spacers ITS-1 and ITS-2 and the 5.8S rRNA gene). The data here presented indicate that populations within the Mepraia genus (excluding Region II specimens) can be divided into two separate lineages. One lineage is comprised of specimens from the northernmost Region I and represents M. gajardoi. The other includes samples from the southern III, IV and the Metropolitan Regions, and represents M. spinolai. Region II individuals deserve particular attention as their relationship to the two identified lineages is not clear-cut. While they appear to belong to M. spinolai based on cytogenetics and rDNA markers, COI results indicate a closer relationship to M. gajardoi. This disagreement can be due to mitochondrial DNA introgression or the retention of ancestral polymorphisms.

  11. 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.

  12. Cytogenetic studies of three Lycosidae species from Argentina (Arachnida, Araneae

    Directory of Open Access Journals (Sweden)

    María A. Chemisquy

    2008-01-01

    Full Text Available Cytogenetic studies of the family Lycosidae (Arachnida: Araneae are scarce. Less than 4% of the described species have been analyzed and the male haploid chromosome numbers ranged from 8+X 1 X 2 to 13+X 1 X 2 . Species formerly classified as Lycosa were the most studied ones. Our aim in this work was to perform a comparative analysis of the meiosis in " Lycosa " erythrognatha Lucas, " Lycosa " pampeana Holmberg and Schizocosa malitiosa (Tullgren. We also compared male and female karyotypes and characterized the heterochromatin of " L. " erythrognatha . The males of the three species had 2n = 22, n = 10+X 1 X 2 , all the chromosomes were telocentric and there was generally a single chiasma per bivalent. In " Lycosa " pampeana , which is described cytogenetically for the first time herein, the bivalents and sex chromosomes showed a clustered arrangement at prometaphase I. The comparison of the male/female karyotypes (2n = 22/24 of " Lycosa " erythrognatha revealed that the sex chromosomes were the largest of the complement and that the autosomes decreased gradually in size. The analysis of the amount, composition and distribution of heterochromatin with C-banding and staining with DAPI- and CMA 3 - showed that " Lycosa " erythrognatha had little GC-rich heterochromatin in the pericentromeric region of all chromosomes. In addition, the actual occurrence of the genus Lycosa in the Southern Hemisphere is discussed.

  13. [Cytogenetic aberrations in histologically benign infiltratively growing sphenoid wing meningiomas].

    Science.gov (United States)

    Korshunov, A G; Cherekaev, V A; Bekiashev, A Kh; Sycheva, R V

    2007-01-01

    Meningiomas of the sphenoid wing (SW) frequently show an invasive pattern of growth and cause destruction of the adjacent structures. As a result, the rate of recurrent SW meningiomas is as high as 30%. Cytogenetic investigations showed no aberrations specific to invasively growing meningiomas. During this study, the authors evaluated 10 invasive and 5 non-invasive SW meningiomas via comparative genome hybridization (CGH) (matrix CGH), by using the gene chips of GenoSensor Array micromatrixes. The mean number of aberrations in the tumor cells was much greater in case of invasive meningiomas (67.4 versus 40.5 in case of non-invasive SW meningiomas. Furthermore, in invasive SW meningiomas, there were frequently losses in loci 1p, 6q, and 14q and gains in loci 15q and 10, which had been predetermined as molecular markers of stepwise progression of meningioma. Thus, the presence of a complex cytogenetic profile and progression-associated chromosome aberrations in benign SW meningiomas is linked with the increase of their invasive potential. Due to the fact that there are no well-defined adjuvant therapy regimens for recurring meningiomas at present, the revealed genomic aberrations may become potential targets for searching for drugs and a therapeutic intervention in future.

  14. Workflow automation architecture standard

    Energy Technology Data Exchange (ETDEWEB)

    Moshofsky, R.P.; Rohen, W.T. [Boeing Computer Services Co., Richland, WA (United States)

    1994-11-14

    This document presents an architectural standard for application of workflow automation technology. The standard includes a functional architecture, process for developing an automated workflow system for a work group, functional and collateral specifications for workflow automation, and results of a proof of concept prototype.

  15. 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.

  16. Computer-assisted cytogenetic analysis of 51 malignant peripheral-nerve-sheath tumors : Sporadic vs. neurofibromatosis-type-1-associated malignant schwannomas

    NARCIS (Netherlands)

    Plaat, B E; Molenaar, W M; Mastik, M F; Hoekstra, H J; te Meerman, G J; van den Berg, E

    1999-01-01

    Cytogenetic studies in small groups of patients with malignant peripheral-nerve-sheath tumors (MPNST) revealed complex karyotypes with no consistent changes. A computer-assisted cytogenetic analysis using a cytogenetic database was performed to determine recurrent cytogenetic alterations in 51 MPNST

  17. 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.

  18. 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

  19. 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, Pclonal disease process for risk assessment and suggest that selected patients may benefit from repeated risk stratification. PMID:26967818

  20. Molecular cytogenetic analysis in the study of brain tumors: findings and applications.

    Science.gov (United States)

    Bayani, Jane; Pandita, Ajay; Squire, Jeremy A

    2005-11-15

    Classic cytogenetics has evolved from black and white to technicolor images of chromosomes as a result of advances in fluorescence in situ hybridization (FISH) techniques, and is now called molecular cytogenetics. Improvements in the quality and diversity of probes suitable for FISH, coupled with advances in computerized image analysis, now permit the genome or tissue of interest to be analyzed in detail on a glass slide. It is evident that the growing list of options for cytogenetic analysis has improved the understanding of chromosomal changes in disease initiation, progression, and response to treatment. The contributions of classic and molecular cytogenetics to the study of brain tumors have provided scientists and clinicians alike with new avenues for investigation. In this review the authors summarize the contributions of molecular cytogenetics to the study of brain tumors, encompassing the findings of classic cytogenetics, interphase- and metaphase-based FISH studies, spectral karyotyping, and metaphase- and array-based comparative genomic hybridization. In addition, this review also details the role of molecular cytogenetic techniques in other aspects of understanding the pathogenesis of brain tumors, including xenograft, cancer stem cell, and telomere length studies.

  1. Cytogenetics of the true bug infraorder Cimicomorpha (Hemiptera, Heteroptera: a review

    Directory of Open Access Journals (Sweden)

    Valentina Kuznetsova

    2011-12-01

    Full Text Available The Cimicomorpha is one of the largest and highly diversified infraorders of the Heteroptera. This group is also highly diversified cytogenetically and demonstrates a number of unusual cytogenetic characters such as holokinetic chromosomes; m-chromosomes; multiple sex chromosome systems; post-reduction of sex chromosomes in meiosis; variation in the presence/absence of chiasmata in spermatogenesis; different types of achiasmate meiosis. We present here a review of essential cytogenetic characters of the Cimicomorpha and outline the chief objectives and goals of future investigations in the field.

  2. 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...

  3. Fluorescent in-situ hybridization--some of its applications in clinical cytogenetics.

    Science.gov (United States)

    Gole, L A; Bongso, A

    1997-11-01

    Fluorescent in-situ hybridization (FISH) is becoming more and more relevant as an important future tool in prenatal and pre-implantation genetic diagnosis and cancer cytogenetics. This review describes the FISH technique as applied to whole chromosome spreads and interphase cells and discusses its applications in clinical cytogenetics. Information is presented on the various types of probes and the subsequent hybridization and detection procedures. The potential use of this novel FISH technique in the diagnosis of numerical and structural chromosomal aberrations in routine karyotyping for prenatal diagnosis, tumour cytogenetics and pre-implantation genetic diagnosis is outlined.

  4. Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis.

    Science.gov (United States)

    Moro, M A; Sanna, R; Cambosu, F; Soro, G; Dessole, S; Montella, A; Capobianco, G

    2014-01-01

    The authors report a preterm neonate with dysmorphic traits and cleft palate who was born preterm because of precipitous delivery and died soon after birth notwithstanding neonatal intensive care unit (NICU) support. The cytogenetic analysis on fibroblasts from post-mortem skin biopsy demonstrated a Pallister-Killian syndrome (PKS). PKS is a cytogenetically syndrome characterized by a tissue limited mosaic distribution of one isochromosome 12p (tetrasomy 12p). Clinical manifestations of PKS are variable, and some symptoms may overlap with other malformative syndromes, thus the correct diagnosis mainly depends on the demonstration of the specific cytogenetic abnormality.

  5. Automated DNA Sequencing System

    Energy Technology Data Exchange (ETDEWEB)

    Armstrong, G.A.; Ekkebus, C.P.; Hauser, L.J.; Kress, R.L.; Mural, R.J.

    1999-04-25

    Oak Ridge National Laboratory (ORNL) is developing a core DNA sequencing facility to support biological research endeavors at ORNL and to conduct basic sequencing automation research. This facility is novel because its development is based on existing standard biology laboratory equipment; thus, the development process is of interest to the many small laboratories trying to use automation to control costs and increase throughput. Before automation, biology Laboratory personnel purified DNA, completed cycle sequencing, and prepared 96-well sample plates with commercially available hardware designed specifically for each step in the process. Following purification and thermal cycling, an automated sequencing machine was used for the sequencing. A technician handled all movement of the 96-well sample plates between machines. To automate the process, ORNL is adding a CRS Robotics A- 465 arm, ABI 377 sequencing machine, automated centrifuge, automated refrigerator, and possibly an automated SpeedVac. The entire system will be integrated with one central controller that will direct each machine and the robot. The goal of this system is to completely automate the sequencing procedure from bacterial cell samples through ready-to-be-sequenced DNA and ultimately to completed sequence. The system will be flexible and will accommodate different chemistries than existing automated sequencing lines. The system will be expanded in the future to include colony picking and/or actual sequencing. This discrete event, DNA sequencing system will demonstrate that smaller sequencing labs can achieve cost-effective the laboratory grow.

  6. 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.

  7. Cytogenetic studies in couples experiencing repeated pregnancy losses.

    Science.gov (United States)

    De Braekeleer, M; Dao, T N

    1990-07-01

    A computerized database generated from the literature on cytogenetic studies in couples experiencing repeated pregnancy losses has been set up at the University of Quebec at Chicoutimi. At the present time, it contains data on 22,199 couples (44,398 individuals). The statistical analyses showed a relationship between the distribution of the chromosome abnormalities and the number of abortions. An uneven distribution of the chromosomal structural rearrangements according to the sex of the carrier was found (P less than 0.05). Overall, 4.7% of the couples ascertained for two or more spontaneous abortions included one carrier. It also appeared that only translocations (both reciprocal and Robertsonian) and inversions were associated with a higher risk of pregnancy wastage. Therefore, genetic counselling should be offered to these couples and investigations performed on their extended families.

  8. Micropropagation and cytogenetic assessment of Zingiber species of Northeast India.

    Science.gov (United States)

    Das, Archana; Kesari, Vigya; Rangan, Latha

    2013-12-01

    An improved micropropagation protocol was developed for Zingiber moran and Z. zerumbet, two wild species of the genus Zingiber, found in Northeast India. The effects of growth regulators, sugar concentrations, and nutrients were tested on the rate of shoot initiation and multiplication. An increase in proliferation and multiplication occurred in modified Murashige and Skoog (MS) medium supplemented with benzyladenine and kinetin. About 2 % sucrose and 0.7 % agar were found to be the optimum for shoot multiplication and regeneration. Naphthalene acetic acid at 0.5 mg/L produced the best rooting response for both the species. Regenerated plantlets were acclimatized successfully and cytogenetic stability was confirmed by RAPD profiling and ploidy checks.

  9. [Cytogenetic abnormalities and gene mutations in myeloid leukemia].

    Science.gov (United States)

    Kato, Naoko; Kitamura, Toshio

    2009-10-01

    Myeloid leukemia is a clinically and genetically heterogeneous disease. Cytogenetic studies have revealed specific chromosomal abnormalities, such as translocations, and inversions. Fusion proteins derived from these abnormalities were identified in various subtypes of leukemia. Because most of these fusion proteins were not sufficient to induce leukemia by themselves in mouse models, additional oncogenic events have been thought to be necessary for leukemogenesis. Recently, a hypothesis called "two-hit model" for leukemia has been proposed. Two broad classes of mutations that proliferative or survival advantage of hematopoietic progenitors and impaired differentiation are required for inducing leukemia. In this article, we summarize some typical chromosomal abnormalities or gene mutations associated with myeloid leukemia on the basis of this hypothesis.

  10. Alternative statistical methods for cytogenetic radiation biological dosimetry

    CERN Document Server

    Fornalski, Krzysztof Wojciech

    2014-01-01

    The paper presents alternative statistical methods for biological dosimetry, such as the Bayesian and Monte Carlo method. The classical Gaussian and robust Bayesian fit algorithms for the linear, linear-quadratic as well as saturated and critical calibration curves are described. The Bayesian model selection algorithm for those curves is also presented. In addition, five methods of dose estimation for a mixed neutron and gamma irradiation field were described: two classical methods, two Bayesian methods and one Monte Carlo method. Bayesian methods were also enhanced and generalized for situations with many types of mixed radiation. All algorithms were presented in easy-to-use form, which can be applied to any computational programming language. The presented algorithm is universal, although it was originally dedicated to cytogenetic biological dosimetry of victims of a nuclear reactor accident.

  11. Testing hygrometers used in cytogenetics laboratories for metaphase preparation.

    Science.gov (United States)

    Hartley, Thomas; Dun, Karen

    2011-07-01

    This protocol describes procedures for checking small laboratory hygrometers for accuracy at three relative humidity (rh) levels. The work arose out of the need to provide laboratory assessors with documentary evidence that the hygrometer used to monitor humidity in the vicinity of the laboratory where medical cytogenetics testing slides are prepared and dried in the ambient environment is reproducible and sufficiently accurate. The procedure is based upon the physicochemical principle that when water or certain saturated salt solutions are placed into a sealed environment, the humidity will equilibrate to well defined levels. We choose to check our hygrometers at three points: 95%, 75%, and 33% rh, using distilled water, saturated sodium chloride solution, and saturated magnesium chloride solution, respectively. Our results have demonstrated that the procedure is convenient and of sufficient accuracy to be fit for this annual hygrometer validation purpose. The procedure takes 24 hr per relative humidity point checked.

  12. Cytogenetic and molecular genetic alterations in hepatocellular carcinoma

    Institute of Scientific and Technical Information of China (English)

    Sze-hang LAU; Xin-yuan GUAN

    2005-01-01

    Specific chromosome aberrations are frequently detected during the development of hepatocellular carcinoma. Molecular cytogenetic approaches such as comparative genomic hybridization and loss of heterozygosity analyses have provided fruitful information on changes in HCC cases at the genomic level. Mapping of chromosome gains and losses have frequently resulted in the identification of oncogenes and tumor suppressors, respectively. In this review, we summarize some frequently detected chromosomal aberrations reported for hepatocellular carcinoma cases using comparative genomic hybridization and loss of heterozygosity studies. Focus will be on gains of 1q, 8q, and 20q, and losses of 4q,8p, 13q, 16q, and 17p. We then examine the candidate oncogenes and tumor suppressors located within these regions, and explore their possible functions in hepatocarcinogenesis. Finally, the impact of microarray-based screening platforms will be discussed.

  13. Use of chromosome microdissection in fish molecular cytogenetics

    Directory of Open Access Journals (Sweden)

    Frederico Henning

    2008-01-01

    Full Text Available Chromosome microdissection is a technique in which whole chromosomes or chromosomal segments are dissected under an inverted microscope yielding chromosome-specific sequences. Several protocol modifications introduced during the past 15 years reduced the number of chromosomes required for most applications. This is of particular interest to fish molecular cytogenetics, since most species present highly uniform karyotypes which make impossible the collection of multiple copies of the same chromosome. Probes developed in this manner can be used to investigate chromosome homologies in closely related species. Here we describe a protocol recently used in the gymnotiform species group Eigenmannia and review the major steps involved in the generation of these markers focusing on protocol modifications aiming to reduce the number of required chromosomes.

  14. [The cytogenetic activity of some brands of epoxy resins].

    Science.gov (United States)

    Iavorovskiĭ, A P; Bariliak, I R; Paustovskiĭ, Iu A

    1996-01-01

    The studies have allow us to ascertain that some epoxy resins, such as DE-500, DE-1000, DE-2000, UP-650, UP-650T, under gastric administration at the dose levels of 1/10 and 1/50 DL50 (DL50 = 5338 +/- 1134, 6644 +/- 1114, 9180 +/- 1154, 7717 +/- 586, 6980 +/- 621 mg/kg for DE-500, DE-1000, DE-2000, UP-650, UP-650T respectively) and ED-22F under inhalational exposure at 1 mg/m3 as per epichlorhydrine over three to four months, have a striking effect on the chromosomal apparatus of the laboratory animals bone marrow cells, bringing about chromosomal structural aberrations. The cytogenetic activity was found to be dependent upon the dose employed as well as duration of the exposure and chemical structure of the epoxy resins.

  15. Cytogenetic analysis in western Atlantic snappers (Perciformes, Lutjanidae

    Directory of Open Access Journals (Sweden)

    Érika Cruz Rocha

    2008-01-01

    Full Text Available The Lutjanidae or snappers are a family of perciform fishes, mainly marine but with some members living in estuaries and entering fresh water to feed. Some are important food fish. Cytogenetic data for Lutjanidae are scarce. In the present work, we cytogenetically characterized through conventional Giemsa staining techniques, Ag-NOR and C-banding the species Ocyurus chrysurus, Lutjanus analis, L. alexandrei, L. cyanopterus, L. jocu and L. synagris, all found along the Brazilian coast. Karyotype analysis of all six species showed a modal value of 2n = 48 acrocentric chromosomes. Single NORs were found at pericentromeric position on the long arms of the 2nd pair in O. chrysurus, L. alexandrei and L. cyanopterus, on the 5th pair in L. analis and on the 23rd pair in L. synagris. The species L. jocu presented multiple NORs located on the 2nd pair at a pericentromeric region and on the 5th pair at a telomeric region. Heterochromatic blocks were identified at the centromeric region of all chromosomes of the studied species. These results indicate that, despite of the chromosomal stability of this family, a relative structural diversification seems to have occurred in the chromosome evolution of the group. Such diversification was evidenced by divergent number and location of ribosomal sites among species. The NOR-bearing pairs represented an efficient cytotaxonomic marker for most of the analyzed species. The data suggest that the presence of interstitially located single NORs on a large acrocentric pair should represent a basal condition for lutjanids.

  16. 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

  17. 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.

  18. Cytogenetic abnormalities in 222 infertile men with azoospermia and oligospermia in Iran: Report and review

    Directory of Open Access Journals (Sweden)

    Mohammad T Akbari

    2012-01-01

    Conclusion: Comparison of our results with the review of the literature shows a higher incidence (4- fold of gonosomal, in particular, numerical gonosomal, chromosomal anomalies. Cytogenetic analysis is strongly suggested for infertile men, particularly in those who suffer from azoospermia.

  19. 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.

    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 the

  20. 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 the

  1. 75 FR 32484 - Array-Based Cytogenetic Tests: Questions on Performance Evaluation, Result Reporting and...

    Science.gov (United States)

    2010-06-08

    ... Performance Evaluation, Result Reporting and Interpretation. The purpose of the public meeting is to seek input on challenges related to performance evaluation, determination of clinical significance, result... HUMAN SERVICES Food and Drug Administration Array-Based Cytogenetic Tests: Questions on...

  2. New cytogenetically visible copy number variant in region 8q21.2

    Directory of Open Access Journals (Sweden)

    Ewers Elisabeth

    2011-01-01

    Full Text Available Abstract Background Cytogenetically visible unbalanced chromosomal abnormalities (UBCA, reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. It may be speculated, that some of the UBCA may be similar or identical to copy number variants (CNV of the human genome. Results Here we report on a yet unreported cytogenetically visible copy number variant (CNV in the long arm of chromosome 8, region 8q21.2, detected in three unrelated clinically healthy carriers. Conclusion The first description of a cytogenetically visible CNV/UBCA in 8q21.2 shows that banding cytogenetics is far from being outdated. It is a cost efficient, up-to-date method for a single cell specific overview on the whole genome, still prepared to deliver unexpected findings.

  3. 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 serve...... 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...

  4. 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.

  5. Integrated cytogenetics and genomics analysis of transposable elements in the Nile tilapia, Oreochromis niloticus.

    Science.gov (United States)

    Valente, Guilherme; Kocher, Thomas; Eickbush, Thomas; Simões, Rafael P; Martins, Cesar

    2016-06-01

    Integration of cytogenetics and genomics has become essential to a better view of architecture and function of genomes. Although the advances on genomic sequencing have contributed to study genes and genomes, the repetitive DNA fraction of the genome is still enigmatic and poorly understood. Among repeated DNAs, transposable elements (TEs) are major components of eukaryotic chromatin and their investigation has been hindered even after the availability of whole sequenced genomes. The cytogenetic mapping of TEs in chromosomes has proved to be of high value to integrate information from the micro level of nucleotide sequence to a cytological view of chromosomes. Different TEs have been cytogenetically mapped in cichlids; however, neither details about their genomic arrangement nor appropriated copy number are well defined by these approaches. The current study integrates TEs distribution in Nile tilapia Oreochromis niloticus genome based on cytogenetic and genomics/bioinformatics approach. The results showed that some elements are not randomly distributed and that some are genomic dependent on each other. Moreover, we found extensive overlap between genomics and cytogenetics data and that tandem duplication may be the major mechanism responsible for the genomic dynamics of TEs here analyzed. This paper provides insights in the genomic organization of TEs under an integrated view based on cytogenetics and genomics.

  6. Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men

    Science.gov (United States)

    Yatsenko, Alexander N.; Yatsenko, Svetlana A.; Weedin, John W.; Lawrence, Amy E.; Patel, Ankita; Peacock, Sandra; Matzuk, Martin M.; Lamb, Dolores J.; Cheung, Sau Wai; Lipshultz, Larry I.

    2010-01-01

    Purpose The causes of male infertility are heterogeneous but more than 50% of cases have a genetic basis. Specific genetic defects have been identified in less than 20% of infertile males and, thus, most causes remain to be elucidated. The most common cytogenetic defects associated with nonobstructive azoospermia are numerical and structural chromosome abnormalities, including Klinefelter syndrome (47,XXY) and Y chromosome microdeletions. To refine the incidence and nature of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 668 infertile men with oligozoospermia and azoospermia. Materials and Methods High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done in 668 infertile males referred for routine cytogenetic analysis between January 2004 and March 2009. Results The overall incidence of chromosomal abnormalities was about 8.2%. Of the 55 patients with abnormal cytogenetic findings sex chromosome aneuploidies were observed in 29 (53%), including Klinefelter syndrome in 27 (49%). Structural chromosome abnormalities involving autosomes (29%) and sex chromosomes (18%) were detected in 26 infertile men. Abnormal cytogenetic findings were observed in 35 of 264 patients (13.3%) with azoospermia and 19 of 365 (5.2%) with oligozoospermia. Conclusions Structural chromosomal defects and low level sex chromosome mosaicism are common in oligozoospermia cases. Extensive cytogenetic assessment and fluorescence in situ hybridization may improve the detection rate in males with oligozoospermia. These findings highlight the need for efficient genetic testing in infertile men so that couples may make informed decisions on assisted reproductive technologies to achieve parenthood. PMID:20172548

  7. [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.

  8. Automating checks of plan check automation.

    Science.gov (United States)

    Halabi, Tarek; Lu, Hsiao-Ming

    2014-07-08

    While a few physicists have designed new plan check automation solutions for their clinics, fewer, if any, managed to adapt existing solutions. As complex and varied as the systems they check, these programs must gain the full confidence of those who would run them on countless patient plans. The present automation effort, planCheck, therefore focuses on versatility and ease of implementation and verification. To demonstrate this, we apply planCheck to proton gantry, stereotactic proton gantry, stereotactic proton fixed beam (STAR), and IMRT treatments.

  9. 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 support

  10. 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.

  11. More Benefits of Automation.

    Science.gov (United States)

    Getz, Malcolm

    1988-01-01

    Describes a study that measured the benefits of an automated catalog and automated circulation system from the library user's point of view in terms of the value of time saved. Topics discussed include patterns of use, access time, availability of information, search behaviors, and the effectiveness of the measures used. (seven references)…

  12. 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.

  13. Automation in immunohematology.

    Science.gov (United States)

    Bajpai, Meenu; Kaur, Ravneet; Gupta, Ekta

    2012-07-01

    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.

  14. 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

  15. 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...

  16. 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.

  17. Cytogenetic characterization of Aloysia virgata Ruiz and Pavan (Verbenaceae

    Directory of Open Access Journals (Sweden)

    Aline Dias Brandão

    2009-08-01

    Full Text Available Since previous cytogenetic reports of Aloysia have only described the meiotic behavior and chromosomal number of some species, the aim of this work was to provide detailed cytogenetic description of Aloysia virgata that would contribute to the understanding of the taxonomical organization of the Verbenaceae. Aloysia virgata had a karyotype with 2n = 36 metacentric chromosomes, all with similar size. The large amount of heterochromatin seen after Giemsa staining was confirmed by C-banding. Four nucleolar organizer regions (NORs were detected with an rDNA 45S probe in two homologous pairs and two sites of 5S rDNA located on one chromosomal pair were detected by fluorescence in situ hybridization. The interphase nucleus was classified as semi-reticulate. Meiotic analysis showed a normal chromosomal behavior, with 18 bivalents in some parts of prophase I and in metaphase I. The number of chromosomes, NORs and 5S rDNA segments did not exclude a possible polyploid origin.O gênero Aloysia reúne aproximadamente 30 espécies, porém sua circunscrição tem sido motivo de controvérsia. São poucos os estudos citogenéticos para o gênero, relatando apenas o número e o comportamento cromossômico. O presente trabalho teve como objetivo, identificar os caracteres citogenéticos de Aloysia virgata da flora brasileira que possam ser utilizados para um melhor entendimento e caracterização dos aspectos citogenéticos da família Verbenaceae, que possam contribuir para a organização taxonômica do grupo. Aloysia virgata apresentou cariótipo com 2n = 36 pequenos cromossomos, todos com o mesmo tamanho. Grande quantidade de heterocromatina foi observada com Giemsa e confirmada pela técnica de banda C. Foram detectadas quatro regiões organizadoras de nucléolo (NORs e dois sítios de rDNA 5S pela técnica de hibridação in situ fluorescente (FISH. O núcleo interfásico foi classificado como semireticulado. Foi realizada a caracterização meiótica, na

  18. 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

    Energy Technology Data Exchange (ETDEWEB)

    Hagmar, Lars; Stroemberg, Ulf; Mikoczy, Zoli; Tinnerberg, Hakan; Skerfving, Staffan [Department of Occupational and Environmental Medicine, Lund University, S-221 85 Lund (Sweden); Bonassi, Stefano; Lando, Cecilia [Department of Environmental Epidemiology, Istituto Nazionale per la Ricerca sul Cancro, Viale Benedetto XV, I-1016132 Genoa (Italy); Hansteen, Inger-Lise [Department of Occupational Medicine, Telemark Central Hospital, N-3710 Skien (Norway); Montagud, Alicia Huici [Centro Nacional de Condiciones de Trabajo, Instituto Nacional de Seguridad e Higiene en el Trabajo, Dulcet 2-10, ES-08034 Barcelona (Spain); Knudsen, Lisbeth [National Institute of Occupational Health, Lersoe Parkalle 105, DK-2100 Copenhagen (Denmark); Norppa, Hannu [Finnish Institute of Occupational Health, Topeliuksekatu 41 aA, FIN-00250 Helsinki (Finland); Reuterwall, Christina [National Institute of Work Life, S-171 84 Solna (Sweden); Broegger, Anton [Norwegian Radium Hospital, Oslo (Norway); Forni, Alessandra [Istituto di Medicina del Lavoro Clinica del Lavoro `L. Devoto`, Milan (Italy); Hoegstedt, Benkt [Department of Occupational Medicine, Central Hospital, Halmstad (Sweden); Lambert, Bo [Department of Environmental Medicine, Centre for Nutrition and Toxicology, Karolinska Institute, Stockholm (Sweden); Mitelman, Felix [Department of Clinical Genetics, Lund University, Lund (Sweden); Nordenson, Ingrid [National Institute of Work Life, Umea (Sweden); Salomaa, Sisko [Finnish Center for Radiation and Nuclear Safety, Helsinki (Finland)

    1998-09-20

    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

  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. Nanotechnology and molecular cytogenetics: the future has not yet arrived

    Directory of Open Access Journals (Sweden)

    Dimitris Ioannou

    2010-05-01

    Full Text Available Quantum dots (QDs are a novel class of inorganic fluorochromes composed of nanometer-scale crystals made of a semiconductor material. They are resistant to photo-bleaching, have narrow excitation and emission wavelengths that can be controlled by particle size and thus have the potential for multiplexing experiments. Given the remarkable optical properties that quantum dots possess, they have been proposed as an ideal material for use in molecular cytogenetics, specifically the technique of fluorescent in situ hybridisation (FISH. In this review, we provide an account of the current QD-FISH literature, and speculate as to why QDs are not yet optimised for FISH in their current form. Prof. Darren Griffin holds the chair in genetics at the University of Kent, Canterbury, UK. He is a graduate of the University of Manchester (BSc and DSc and University College London (PhD. He is a Fellow of the Royal College of Pathology and of the Society of Biology. He has published over 100 papers on aspects related to chromosome research and runs a busy research laboratory. Dimitris Ioannou is a final year PhD student in the laboratory of Professor Griffin. He is a graduate of the University of Wales (BSc and Nottingham (MPhil, and has performed original research work on applications of FISH including QD-FISH.

  1. [Benefit of human gamete cytogenetics: results and perspectives].

    Science.gov (United States)

    Vialard, F; Pellestor, F

    2008-09-01

    In man, the incidence of reproductive failures is high and chromosomal abnormalities remains the major cause of pregnancy wastage. The advent of molecular cytogenetic techniques and assisted reproduction technology have brought forth new approaches for the chromosomal analysis of human oocytes and spermatozoa. The oocyte analyses have evidenced the high rate of chromosomal abnormalities in women and identified premature separation of sister chromatid as a major mechanism in aneuploidy occurrence. High frequencies of aneuploidy have been found in various groups of women, such as patients over 35 or 38 years old, patients with recurrent implantation failures or recurrent miscarriages. The polar body analysis has confirmed the major contribution of premature separation of sister chromatids in aneuploidies and the effect of maternal ageing on its occurrence. In spermatozoa, the efficient adaptation of in situ chromosomal detection techniques has facilitated the segregation analysis of chromosomal abnormalities. Despite the consensus observed in sperm studies of robertsonnian translocations and inversions, new data are required for accurate estimates of imbalances in various types of structural rearrangements. For infertile patients with normal karyotypes, there is significant increase in aneuploidy frequencies, which can be extremely elevated in some groups of subjects, such as patients with large headed spermatozoa syndrome.

  2. Molecular cytogenetic characterization of the Amazon River dolphin Inia geoffrensis.

    Science.gov (United States)

    Bonifácio, Heidi L; da Silva, Vera M F; Martin, Anthony R; Feldberg, Eliana

    2012-09-01

    Classical and molecular cytogenetic (18S rDNA, telomeric sequence, and LINE-1 retrotransposon probes) studies were carried out to contribute to an understanding of the organization of repeated DNA elements in the Amazon River dolphin (boto, Inia geoffrensis). Twenty-seven specimens were examined, each presenting 2n = 44 chromosomes, the karyotype formula 12m + 14sm + 6st + 10t + XX/XY, and fundamental number (FN) = 74. C-positive heterochromatin was observed in terminal and interstitial positions, with the occurrence of polymorphism. Interstitial telomeric sequences were not observed. The nucleolar organizer region (NOR) was located at a single site on a smallest autosomal pair. LINE-1 was preferentially distributed in the euchromatin regions, with the greatest accumulation on the X chromosome. Although the karyotype structure in cetaceans is considered to be conserved, the boto karyotype demonstrated significant variations in its formula, heterochromatin distribution, and the location of the NOR compared to other cetacean species. These results contribute to knowledge of the chromosome organization in boto and to a better understanding of karyoevolution in cetaceans.

  3. Microsatellite instability and cytogenetic survey in myeloid leukemias

    Directory of Open Access Journals (Sweden)

    E.M.S.F. Ribeiro

    2002-02-01

    Full Text Available Microsatellites are short tandem repeat sequences dispersed throughout the genome. Their instability at multiple genetic loci may result from mismatch repair errors and it occurs in hereditary nonpolyposis colorectal cancer. This instability is also found in many sporadic cancers. In order to evaluate the importance of this process in myeloid leukemias, we studied five loci in different chromosomes of 43 patients, 22 with chronic myelocytic leukemia (CML in the chronic phase, 7 with CML in blast crisis, and 14 with acute myeloid leukemia (AML, by comparing leukemic DNA extracted from bone marrow and constitutional DNA obtained from buccal epithelial cells. Only one of the 43 patients (2.1%, with relapsed AML, showed an alteration in the allele length at a single locus. Cytogenetic analysis was performed in order to improve the characterization of leukemic subtypes and to determine if specific chromosome aberrations were associated with the presence of microsatellite instability. Several chromosome aberrations were observed, most of them detected at diagnosis and during follow-up of the patients, according to current literature. These findings suggest that microsatellite instability is an infrequent genetic event in myeloid leukemias, adding support to the current view that the mechanisms of genomic instability in solid tumors differ from those observed in leukemias, where specific chromosome aberrations seem to play a major role.

  4. Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

    Science.gov (United States)

    Karra, Vijay Kumar; Jindal, Ankur; Puppala, Madhavi; Singh, Pratiksha; Rawat, Kanchan; Kapoor, Seema

    2016-01-01

    Introduction Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. Aim The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis. Materials and Methods Total of 859 patients ranging from newborn to 37 years of age were referred to the division of genetics, Department of Paediatrics between 2010 and 2015, with a variety of clinical disorders; Down syndrome (DS), Turner’s syndrome (TS) and Klinefelter syndrome; amenorrhea; ambiguous sex and multiple congenital malformations. Chromosomal analysis was performed on lymphocyte culture according to standard methods. Results Of the 859 cases studied, 371 (43.1%) had chromosomal abnormalities. The most common autosomal abnormalities were DS 302 (81.4%) and sex chromosomal abnormalities were TS 51 (13.7%). Numerical abnormalities were accounted for 353 (41.0%) and structural abnormalities 18 (2.0%), respectively. Various other chromosomal anomalies were also reported. Conclusion We have reviewed the incidence and distribution of chromosomal abnormalities and found higher rate of chromosomal abnormalities 43.1% in the referred cases. Our data suggest that chromosomal analysis is important tool in the evaluation of genetic disorders and helps clinicians to provide accurate diagnosis and proper genetic counselling. PMID:27790464

  5. 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.

  6. Prenatal identification of i(Yp) by molecular cytogenetic analysis

    Energy Technology Data Exchange (ETDEWEB)

    Wang, B.T.; Peng, W.; Williams, J. III [Prenatal Diagnostic Center of Southern California Inc., Beverly Hills, CA (United States)] [and others

    1994-09-01

    An isochromosome derived from the short arm of the Y chromosome, i(Yp), is a rare marker chromosome. Its de novo presence prenatally represents a diagnostic dilemna since its impact on fetal development is difficult to predict. We present a case of 46,X,+i(Yp) de novo detected in an amniotic fluid specimen received for karyotype analysis. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes including a Y-centromere probe, a Y whole chromosome painting probe, and a lambda HAM2 probe containing 19 kb of AMG-Y sequence, located to Yp11.2, have identified the marker chromosome as i(Yp). The breakpoint on this marker chromosome is tentatively assigned to Yq11.1 which is close to the centromere. The present report illustrates the importance of FISH techniques as a complement to cytogenetic methods for accurate identification of chromosome rearrangements in prenatal diagnosis and genetic counseling.

  7. Cytogenetic characteristics of herbicide production workers in Ufa.

    Science.gov (United States)

    Kaioumova, D F; Khabutdinova, L Kh

    1998-01-01

    In the present study, we investigated the effect of dioxin-containing products on the cytogenetic characteristics of peripheral blood lymphocytes of herbicide plant workers in Ufa. We found that the mean incidence of cells with chromosomal abberations (CHA) was two fold higher in the herbicide plant workers than the mean incidence level of controls groups consisting of people with no professional contact to herbicides or hospital stuff working in the close vicinity of the herbicide plant in Ufa (for both cases: p < 0.05). Moreover, the mean CHA cell incidence in the controls groups was also two times higher than the average level of spontaneous abberations in humans. The chemical herbicides 2,4,5-trichlorphenol (2,4,5-T) and 2,4-dichlorophenoxiacetic acid (2,4-D) appeared to affect various cellular cycle phases. Chromosomal type abberations occurred in the G0 stage of cellular cycle and chromatic type aberrations in the G2 stage. In the S stage, the aberrations of both types were observed. Our results indicate that the herbicides 2,4,5-T and 2,4-D have mutagenic effects in humans.

  8. 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

  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. 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.

  11. Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman.

    Science.gov (United States)

    Al-Alawi, Intisar; Goud, Tadakal Mallana; Al-Harasi, Salma; Rajab, Anna

    2016-02-01

    The aim of this study was to evaluate cytogenetic findings in Omani patients who had been referred for suspicion of sex chromosome abnormalities that resulted in different clinical disorders. Furthermore, it sought to examine the frequency of chromosomal anomalies in these patients and to compare the obtained results with those reported elsewhere. Cytogenetic analysis was performed on 1232 cases with variant characteristics of sexual development disorders who had been referred to the cytogenetic department, National Genetic Centre, Ministry of Health, from different hospitals in the Sultanate of Oman between 1999 and 2014. The karyotype results demonstrated chromosomal anomalies in 24.2% of the cases, where 67.5% of abnormalities were identified in referral females, whereas only 32.6% were in referral males. Of all sex chromosome anomalies detected, Turner syndrome was the most frequent (38.2%) followed by Klinefelter syndrome (24.9%) and XY phenotypic females (16%). XXX syndrome and XX phenotypic males represented 6.8% and 3.8% of all sex chromosome anomalies, respectively. Cytogenetic analysis of patients referred with various clinical suspicions of chromosomal abnormalities revealed a high rate of chromosomal anomalies. This is the first broad cytogenetic study reporting combined frequencies of sex chromosome anomalies in sex development disorders in Oman.

  12. 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.

  13. I-94 Automation FAQs

    Data.gov (United States)

    Department of Homeland Security — In order to increase efficiency, reduce operating costs and streamline the admissions process, U.S. Customs and Border Protection has automated Form I-94 at air and...

  14. 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.

  15. Hydrometeorological Automated Data System

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Office of Hydrologic Development of the National Weather Service operates HADS, the Hydrometeorological Automated Data System. This data set contains the last 48...

  16. Automating the Media Center.

    Science.gov (United States)

    Holloway, Mary A.

    1988-01-01

    Discusses the need to develop more efficient information retrieval skills by the use of new technology. Lists four stages used in automating the media center. Describes North Carolina's pilot programs. Proposes benefits and looks at the media center's future. (MVL)

  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. ACCOUNTING AUTOMATIONS RISKS

    OpenAIRE

    Муравський, В. В.; Хома, Н. Г.

    2015-01-01

    Accountant accepts active voice in organization of the automated account in the conditions of the informative systems introduction in enterprise activity. Effective accounting automation needs identification and warning of organizational risks. Authors researched, classified and generalized the risks of introduction of the informative accounting systems. The ways of liquidation of the organizational risks sources andminimization of their consequences are gives. The method of the effective con...

  19. Instant Sikuli test automation

    CERN Document Server

    Lau, Ben

    2013-01-01

    Get to grips with a new technology, understand what it is and what it can do for you, and then get to work with the most important features and tasks. A concise guide written in an easy-to follow style using the Starter guide approach.This book is aimed at automation and testing professionals who want to use Sikuli to automate GUI. Some Python programming experience is assumed.

  20. 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

  1. Automation of Diagrammatic Reasoning

    OpenAIRE

    Jamnik, Mateja; Bundy, Alan; Green, Ian

    1997-01-01

    Theorems in automated theorem proving are usually proved by logical formal proofs. However, there is a subset of problems which humans can prove in a different way by the use of geometric operations on diagrams, so called diagrammatic proofs. Insight is more clearly perceived in these than in the corresponding algebraic proofs: they capture an intuitive notion of truthfulness that humans find easy to see and understand. We are identifying and automating this diagrammatic reasoning on mathemat...

  2. 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.

  3. 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 ...

  4. Elements of EAF automation processes

    Science.gov (United States)

    Ioana, A.; Constantin, N.; Dragna, E. C.

    2017-01-01

    Our article presents elements of Electric Arc Furnace (EAF) automation. So, we present and analyze detailed two automation schemes: the scheme of electrical EAF automation system; the scheme of thermic EAF automation system. The application results of these scheme of automation consists in: the sensitive reduction of specific consummation of electrical energy of Electric Arc Furnace, increasing the productivity of Electric Arc Furnace, increase the quality of the developed steel, increasing the durability of the building elements of Electric Arc Furnace.

  5. Statistical methods in interphase cytogenetics: an experimental approach.

    Science.gov (United States)

    Kibbelaar, R E; Kok, F; Dreef, E J; Kleiverda, J K; Cornelisse, C J; Raap, A K; Kluin, P M

    1993-10-01

    In situ hybridization (ISH) techniques on interphase cells, or interphase cytogenetics, have powerful potential clinical and biological applications, such as detection of minimal residual disease, early relapse, and the study of clonal evolution and expansion in neoplasia. Much attention has been paid to issues related to ISH data acquisition, i.e., the numbers, colors, intensities, and spatial relationships of hybridization signals. The methodology concerning data analysis, which is of prime importance for clinical applications, however, is less well investigated. We have studied the latter for the detection of small monosomic and trisomic cell populations using various mixtures of human female and male cells. With a chromosome X specific probe, the male cells stimulated monosomic subpopulations of 0, 1, 5, 10, 50, 90, 95, 99, and 100%. Analogously, when a (7 + Y) specific probe combination was used, containing a mixture of chromosome No. 7 and Y-specific DNA, the male cells simulated trisomic cell populations. Probes specific for chromosomes Nos. 1, 7, 8, and 9 were used for estimation of ISH artifacts. Three statistical tests, the Kolmogorov-Smirnov test, the multiple-proportion test, and the z'-max test, were applied to the empirical data using the control data as a reference for ISH artifacts. The Kolmogorov-Smirnov test was found to be inferior for discrimination of small monosomic or trisomic cell populations. The other two tests showed that when 400 cells were evaluated, and using selected control probes, monosomy X could be detected at a frequency of 5% aberrant cells, and trisomy 7 + Y at a frequency of 1%.(ABSTRACT TRUNCATED AT 250 WORDS)

  6. Cytogenetic analysis of the pathology of frozen shoulder

    Directory of Open Access Journals (Sweden)

    Kabbabe Benjamin

    2010-01-01

    Full Text Available Background : Frozen shoulder (FS is a debilitating musculoskeletal condition with an uncertain etiology and pathogenic mechanism. The aim of this study was to investigate the hypothesis that an alteration in the level of cytokines may disrupt the normal inflammatory and tissue healing process in the shoulder, leading to the development of FS. Materials and Methods: A prospective case-control study was undertaken, analyzing patients undergoing arthroscopic treatment of FS and control patients being treated for subacromial bursitis. Synovial biopsies were taken from all subjects. Synovial RNA levels were analyzed using quantitative polymerase chain reaction (qPCR. Results : Thirteen patients with FS were recruited, four of whom were diagnosed with diabetes mellitus, along with 10 control patients. Cytogenetic analysis using qPCR revealed both fibrogenic cytokine matrix metalloproteinase 3 (MMP 3 (1.98Χ10 5 vs. 755.0, P=0.068 and inflammatory cytokine interleukin 6 (IL 6 (1679.2 vs. 372.8, P=0.062 to be elevated in FS cases as compared to controls. Comparison between diabetic and non-diabetic patients revealed a decrease in the level of expression of inflammatory cytokine, monocyte colony stimulating factor (M-CSF (12,496 vs. 305.1, P=0.04 in diabetic FS patients. Conclusions: The results demonstrate that levels of inflammatory and fibrogenic cytokines are elevated in the synovium of patients with FS compared with controls. This indicates that altered levels of inflammatory cytokines may be associated with the pathogenesis of inflammation evolving into fibrosis, which is the characteristic feature of FS. We have also shown the opposite to be the case in patients with diabetic FS.

  7. Cytogenetics and genetics of human cancer: methods and accomplishments.

    Science.gov (United States)

    Sandberg, Avery A; Meloni-Ehrig, Aurelia M

    2010-12-01

    Cytogenetic and related changes in human cancer constitute part of a constantly developing and enlarging continuum of known genetic alterations associated with cancer development and biology. The cytogenetic component of this continuum has fulfilled much of its pioneering role and now constitutes a small but dynamic segment of the vast literature on cancer genetics, in which it has played an important if not initiating role. The goals of this article are (a) to address historical and methodological aspects of cancer cytogenetics; (b) to present information on diagnostic translocations in leukemias, lymphomas, bone and soft tissue tumors, and carcinomas; (c) to connect some of these chromosomal aberrations with their molecular equivalents; and (d) to describe anomalies in some solid tumors indicative of the complexity of the genomic alterations in cancer. We also look at a few of the more recent genomic developments in cancer and offer an opinion as to what all these findings add up to.

  8. 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...

  9. Comparative genomic hybridization: technical development and cytogenetic aspects for routine use in clinical laboratories.

    Science.gov (United States)

    Lapierre, J M; Cacheux, V; Da Silva, F; Collot, N; Hervy, N; Wiss, J; Tachdjian, G

    1998-01-01

    Comparative genomic hybridization (CGH) offers a new global approach for detection of chromosomal material imbalances of the entire genome in a single experiment without cell culture. In this paper, we discuss the technical development and the cytogenetic aspects of CGH in a clinical laboratory. Based only on the visual inspection of CGH metaphase spreads, the correct identification of numerical and structural anomalies are reported. No commercial image analysis software was required in these experiments. We have demonstrated that this new technology can be set up easily for routine use in a clinical cytogenetics laboratory.

  10. Evaluating the effects of genetic variants of DNA repair genes using cytogenetic mutagen sensitivity approaches.

    Science.gov (United States)

    Abdel-Rahman, Sherif Z; El-Zein, Randa A

    2011-08-01

    Mutagen sensitivity, measured in short-term cultures of peripheral blood lymphocytes by cytogenetic endpoints, is an indirect measure for DNA repair capacity and has been used for many years as a biomarker for intrinsic susceptibility for cancer. In this article, we briefly give an overview of the different cytogenetic mutagen sensitivity approaches that have been used successfully to evaluate the biological effects of polymorphisms in DNA repair genes based on a current review of the literature and based on the need for biomarkers that would allow the characterization of the biological and functional significance of such polymorphisms. We also address some of the future challenges facing this emerging area of research.

  11. Molecular cytogenetics and comparative mapping in goats (Capra hircus, 2n = 60).

    Science.gov (United States)

    Schibler, L; Di Meo, G P; Cribiu, E P; Iannuzzi, L

    2009-01-01

    Few goat genome analysis projects have been developed in the last 10 years. The aim of this review was to compile and update all available cytogenetic mapping data, according to the last goat chromosome nomenclature, as well as human and cattle whole genome sequences. In particular, human regions homologous to most of the FISH-mapped microsatellites were identified in silico. This new goat cytogenetic map made it possible to refine delineation of conserved segments relative to the human and cattle genomic sequence. These improvements did not lead to detection of major new rearrangements within ruminants but confirmed the good conservation of synteny and the numerous intrachromosomal rearrangements observed between goats and humans.

  12. New cytogenetic data for some Palaearctic species of scale insects (Homoptera, Coccinea with karyosystematic notes

    Directory of Open Access Journals (Sweden)

    Ilya Gavrilov-Zimin

    2011-12-01

    Full Text Available New cytogenetic data are reported for 17 species from 15 genera of the families Pseudococcidae, Eriococcidae, Kermesidae, and Coccidae. Twelve species and 6 genera (Peliococcopsis Borchsenius, 1948, Heterococcopsis Borchsenius, 1948, Heliococcus Šulc, 1912, Trabutina Marchal, 1904, Lecanopsis Targioni Tozzetti, 1868, and Anapulvinaria Borchsenius, 1952 were studied cytogenetically for the first time. The taxonomic problems in the genera Trionymus Berg, 1899, Acanthopulvinaria Borchsenius, 1952 and Rhizopulvinaria Borchsenius, 1952 are discussed based on karyotype characters. Two chromosomal forms (cryptic species of Acanthopulvinaria orientalis (Nasonov, 1908, 2n=18 and 2n=16 were discovered.

  13. 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

    2007-06-01

    Cytogenetics has an important impact on the prognosis of patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT) for acute myelogenous leukemia (AML) or myelodysplastic syndromes (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 nonrelapse mortality 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 3-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 nonrelapse mortality). 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.

  14. 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.

  15. 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.

  16. Materials Testing and Automation

    Science.gov (United States)

    Cooper, Wayne D.; Zweigoron, Ronald B.

    1980-07-01

    The advent of automation in materials testing has been in large part responsible for recent radical changes in the materials testing field: Tests virtually impossible to perform without a computer have become more straightforward to conduct. In addition, standardized tests may be performed with enhanced efficiency and repeatability. A typical automated system is described in terms of its primary subsystems — an analog station, a digital computer, and a processor interface. The processor interface links the analog functions with the digital computer; it includes data acquisition, command function generation, and test control functions. Features of automated testing are described with emphasis on calculated variable control, control of a variable that is computed by the processor and cannot be read directly from a transducer. Three calculated variable tests are described: a yield surface probe test, a thermomechanical fatigue test, and a constant-stress-intensity range crack-growth test. Future developments are discussed.

  17. Automation of Taxiing

    Directory of Open Access Journals (Sweden)

    Jaroslav Bursík

    2017-01-01

    Full Text Available The article focuses on the possibility of automation of taxiing, which is the part of a flight, which, under adverse weather conditions, greatly reduces the operational usability of an airport, and is the only part of a flight that has not been affected by automation, yet. Taxiing is currently handled manually by the pilot, who controls the airplane based on information from visual perception. The article primarily deals with possible ways of obtaining navigational information, and its automatic transfer to the controls. Analyzed wand assessed were currently available technologies such as computer vision, Light Detection and Ranging and Global Navigation Satellite System, which are useful for navigation and their general implementation into an airplane was designed. Obstacles to the implementation were identified, too. The result is a proposed combination of systems along with their installation into airplane’s systems so that it is possible to use the automated taxiing.

  18. Automating the CMS DAQ

    CERN Document Server

    Bauer, Gerry; Behrens, Ulf; Branson, James; Chaze, Olivier; Cittolin, Sergio; Coarasa Perez, Jose Antonio; Darlea, Georgiana Lavinia; Deldicque, Christian; Dobson, Marc; Dupont, Aymeric; Erhan, Samim; Gigi, Dominique; Glege, Frank; Gomez Ceballos, Guillelmo; Gomez-Reino Garrido, Robert; Hartl, Christian; Hegeman, Jeroen Guido; Holzner, Andre Georg; Masetti, Lorenzo; Meijers, Franciscus; Meschi, Emilio; Mommsen, Remigius; Morovic, Srecko; Nunez Barranco Fernandez, Carlos; O'Dell, Vivian; Orsini, Luciano; Ozga, Wojciech Andrzej; Paus, Christoph Maria Ernst; Petrucci, Andrea; Pieri, Marco; Racz, Attila; Raginel, Olivier; Sakulin, Hannes; Sani, Matteo; Schwick, Christoph; Spataru, Andrei Cristian; Stieger, Benjamin Bastian; Sumorok, Konstanty; Veverka, Jan; Wakefield, Christopher Colin; Zejdl, Petr

    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.

  19. 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.

  20. Altering user' acceptance of automation through prior automation exposure.

    Science.gov (United States)

    Bekier, Marek; Molesworth, Brett R C

    2016-08-22

    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.

  1. 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

  2. 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...

  3. [Molecular cytogenetic methods for studying interphase chromosomes in human brain cells].

    Science.gov (United States)

    Iurov, I Iu; Vorsanova, S G; Solov'ev, I V; Iurov, Iu B

    2010-09-01

    One of the main genetic factors determining the functional activity of the genome in somatic cells, including brain nerve cells, is the spatial organization of chromosomes in the interphase nucleus. For a long time, no studies of human brain cells were carried out until high-resolution methods of molecular cytogenetics were developed to analyze interphase chromosomes in nondividing somatic cells. The purpose of the present work was to assess the potential of high-resolution methods of interphase molecular cytogenetics for studying chromosomes and the nuclear organization in postmitotic brain cells. A high efficiency was shown by such methods as multiprobe and quantitative fluorescence in situ hybridization (Multiprobe FISH and QFISH), ImmunoMFISH (analysis of the chromosome organization in different types of brain cells), and interphase chromosome-specific multicolor banding (ICS-MCB). These approaches allowed studying the nuclear organization depending on the gene composition and types of repetitive DNA of specific chromosome regions in certain types of brain cells (in neurons and glial cells, in particular). The present work demonstrates a high potential of interphase molecular cytogenetics for studying the structural and functional organizations of the cell nucleus in highly differentiated nerve cells. Analysis of interphase chromosomes of brain cells in the normal and pathological states can be considered as a promising line of research in modern molecular cytogenetics and cell neurobiology, i. e., molecular neurocytogenetics.

  4. 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-re......-resolution DNA flow cytometry on DAPI-stained sperm cell nuclei (CV...

  5. 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)

  6. 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.

    1991-01-01

    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

  7. 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...

  8. Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla

    OpenAIRE

    Stanyon, Roscoe; Wienberg, Johannes; Romagno, D.; Bigoni, F.; Jauch, Anna; Cremer, Thomas

    1992-01-01

    The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined with high-resolution banding, replication sequence analysis, and fluorochrome staining to demonstrate that a reciprocal translocation between ancestral chromosomes homologous to human chromosome 5 and 17 has indeed occurred.

  9. 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.; Bruggenwirth, 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, Bjorn; 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; Pina Aguilar, Raul E.; 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.

    2017-01-01

    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 re

  10. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

    NARCIS (Netherlands)

    Vorstman, JAS; Staal, WG; van Daalen, E; van Engeland, H; Hochstenbach, PFR; Franke, L

    2006-01-01

    The identification of the candidate genes for autism through linkage and association studies has proven to be a difficult enterprise. An alternative approach is the analysis of cytogenetic abnormalities associated with autism. We present a review of all studies to date that relate patients with cyto

  11. 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

    -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...

  12. 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...

  13. Inferring Diversity and Evolution in Fish by Means of Integrative Molecular Cytogenetics.

    Science.gov (United States)

    Artoni, Roberto Ferreira; Castro, Jonathan Pena; Jacobina, Uedson Pereira; Lima-Filho, Paulo Augusto; da Costa, Gideão Wagner Werneck Félix; Molina, Wagner Franco

    2015-01-01

    Fish constitute a paraphyletic and profusely diversified group that has historically puzzled ichthyologists. Hard efforts are necessary to better understand this group, due to its extensive diversity. New species are often identified and it leads to questions about their phylogenetic aspects. Cytogenetics is becoming an important biodiversity-detection tool also used to measure biodiversity evolutionary aspects. Molecular cytogenetics by fluorescence in situ hybridization (FISH) allowed integrating quantitative and qualitative data from DNA sequences and their physical location in chromosomes and genomes. Although there is no intention on presenting a broader review, the current study presents some evidences on the need of integrating molecular cytogenetic data to other evolutionary biology tools to more precisely infer cryptic species detection, population structuring in marine environments, intra- and interspecific karyoevolutionary aspects of freshwater groups, evolutionary dynamics of marine fish chromosomes, and the origin and differentiation of sexual and B chromosomes. The new cytogenetic field, called cytogenomics, is spreading due to its capacity to give resolute answers to countless questions that cannot be answered by traditional methodologies. Indeed, the association between chromosomal markers and DNA sequencing as well as between biological diversity analysis methodologies and phylogenetics triggers the will to search for answers about fish evolutionary, taxonomic, and structural features.

  14. Gene expression profiles of human glioblastomas are associated with both tumor cytogenetics and histopathology.

    Science.gov (United States)

    Vital, Ana Luísa; Tabernero, Maria Dolores; Castrillo, Abel; Rebelo, Olinda; Tão, Hermínio; Gomes, Fernando; Nieto, Ana Belen; Resende Oliveira, Catarina; Lopes, Maria Celeste; Orfao, Alberto

    2010-09-01

    Despite the increasing knowledge about the genetic alterations and molecular pathways involved in gliomas, few studies have investigated the association between the gene expression profiles (GEP) and both cytogenetics and histopathology of gliomas. Here, we analyzed the GEP (U133Plus2.0 chip) of 40 gliomas (35 astrocytic tumors, 3 oligodendrogliomas, and 2 mixed tumors) and their association with tumor cytogenetics and histopathology. Unsupervised and supervised analyses showed significantly different GEP in low- vs high-grade gliomas, the most discriminating genes including genes involved in the regulation of cell proliferation, apoptosis, DNA repair, and signal transduction. In turn, among glioblastoma multiforme (GBM), 3 subgroups of tumors were identified according to their GEP, which were closely associated with the cytogenetic profile of their ancestral tumor cell clones: (i) EGFR amplification, (ii) isolated trisomy 7, and (iii) more complex karyotypes. In summary, our results show a clear association between the GEP of gliomas and tumor histopathology; additionally, among grade IV astrocytoma, GEP are significantly associated with the cytogenetic profile of the ancestral tumor cell clone. Further studies in larger series of patients are necessary to confirm our observations.

  15. Molecular cytogenetics in solid tumors: laboratorial tool for diagnosis, prognosis, and therapy.

    Science.gov (United States)

    Varella-Garcia, Marileila

    2003-01-01

    The remarkable progress in the understanding of leukemogenesis was soundly sustained by methodological developments in the cytogenetic field. Nonrandom chromosomal abnormalities frequently associated with specific types of hematological disease play a major role in their diagnosis and have been demonstrated as independent prognostic indicators. Molecular pathways altered by chimeric or deregulated proteins as a consequence of chromosomal abnormalities have also significantly contributed to the development of targeted therapies, and cytogenetic assays are valuable for selecting patients for treatment and monitoring outcome. In solid tumors, significantly high levels of chromosome abnormalities have been detected, but distinction between critical and irrelevant events has been a major challenge. Consequently, the application of cytogenetic technology as diagnostic, prognostic, or therapeutic tools for these malignancies remains largely under appreciated. The emergence of molecular-based techniques such as fluorescence in situ hybridization was particularly useful for solid malignancies, and the spectrum of their application is rapidly expanding to improve efficiency and sensitivity in cancer prevention, diagnosis, prognosis, and therapy selection, alone or in combination with other diagnostic methods. This overview illustrates current uses and outlines potential applications for molecular cytogenetics in clinical oncology.

  16. Inferring Diversity and Evolution in Fish by Means of Integrative Molecular Cytogenetics

    Directory of Open Access Journals (Sweden)

    Roberto Ferreira Artoni

    2015-01-01

    Full Text Available Fish constitute a paraphyletic and profusely diversified group that has historically puzzled ichthyologists. Hard efforts are necessary to better understand this group, due to its extensive diversity. New species are often identified and it leads to questions about their phylogenetic aspects. Cytogenetics is becoming an important biodiversity-detection tool also used to measure biodiversity evolutionary aspects. Molecular cytogenetics by fluorescence in situ hybridization (FISH allowed integrating quantitative and qualitative data from DNA sequences and their physical location in chromosomes and genomes. Although there is no intention on presenting a broader review, the current study presents some evidences on the need of integrating molecular cytogenetic data to other evolutionary biology tools to more precisely infer cryptic species detection, population structuring in marine environments, intra- and interspecific karyoevolutionary aspects of freshwater groups, evolutionary dynamics of marine fish chromosomes, and the origin and differentiation of sexual and B chromosomes. The new cytogenetic field, called cytogenomics, is spreading due to its capacity to give resolute answers to countless questions that cannot be answered by traditional methodologies. Indeed, the association between chromosomal markers and DNA sequencing as well as between biological diversity analysis methodologies and phylogenetics triggers the will to search for answers about fish evolutionary, taxonomic, and structural features.

  17. 40 CFR 798.5385 - In vivo mammalian bone marrow cytogenetics tests: Chromosomal analysis.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 31 2010-07-01 2010-07-01 true In vivo mammalian bone marrow cytogenetics tests: Chromosomal analysis. 798.5385 Section 798.5385 Protection of Environment ENVIRONMENTAL... used. Examples of commonly used rodent species are rats, mice, and hamsters. (ii) Age. Healthy...

  18. 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 .

  19. 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

    2016-01-01

    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 re

  20. Minimal residual disease evaluation by flow cytometry is a complementary tool to cytogenetics for treatment decisions in acute myeloid leukaemia.

    Science.gov (United States)

    Vidriales, María-Belén; Pérez-López, Estefanía; Pegenaute, Carlota; Castellanos, Marta; Pérez, José-Juan; Chandía, Mauricio; Díaz-Mediavilla, Joaquín; Rayón, Consuelo; de Las Heras, Natalia; Fernández-Abellán, Pascual; Cabezudo, Miguel; de Coca, Alfonso García; Alonso, Jose M; Olivier, Carmen; Hernández-Rivas, Jesús M; Montesinos, Pau; Fernández, Rosa; García-Suárez, Julio; García, Magdalena; Sayas, María-José; Paiva, Bruno; González, Marcos; Orfao, Alberto; San Miguel, Jesús F

    2016-01-01

    The clinical utility of minimal residual disease (MRD) analysis in acute myeloid leukaemia (AML) is not yet defined. We analysed the prognostic impact of MRD level at complete remision after induction therapy using multiparameter flow cytometry in 306 non-APL AML patients. First, we validated the prognostic value of MRD-thresholds we have previously proposed (≥ 0.1%; ≥ 0.01-0.1%; and Cytogenetics is the most relevant prognosis factor in AML, however intermediate risk cytogenetics represent a grey zone that require other biomarkers for risk stratification, and we show that MRD evaluation discriminate three prognostic subgroups (p=0.03). Also, MRD assessments yielded relevant information on favourable and adverse cytogenetics, since patients with favourable cytogenetics and high MRD levels have poor prognosis and patients with adverse cytogenetics but undetectable MRD overcomes the adverse prognosis. Interestingly, in patients with intermediate or high MRD levels, intensification with transplant improved the outcome as compared with chemotherapy, while the type of intensification therapy did not influenced the outcome of patients with low MRD levels. Multivariate analysis revealed age, MRD and cytogenetics as independent variables. Moreover, a scoring system, easy in clinical practice, was generated based on MRD level and cytogenetics.

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

    Energy Technology Data Exchange (ETDEWEB)

    Geras' kin, S.A.; Dikarev, V.G.; Nesterov, E.B.; Vasiliev, D.V.; Dikareva, N.S. [Russian Inst. of Agricultural Radiology and Agroecology, Obninsk (Russian Federation)

    2000-05-01

    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

  2. Cytogenetic profiles in multiple myeloma and monoclonal gammopathy of undetermined significance: a study in highly purified aberrant plasma cells.

    Science.gov (United States)

    Schmidt-Hieber, Martin; Gutiérrez, María Laura; Pérez-Andrés, Martin; Paiva, Bruno; Rasillo, Ana; Tabernero, Maria Dolores; Sayagués, José Maria; Lopez, Antonio; Bárcena, Paloma; Sanchez, María Luz; Gutiérrez, Norma C; San Miguel, Jesus F; Orfao, Alberto

    2013-02-01

    Cytogenetic studies in clonal plasma cell disorders have mainly been done in whole bone marrow or CD138(+) microbead-enriched plasma cells and suggest that recurrent immunoglobulin heavy chain translocations - e.g. t(4;14) -are primary oncogenetic events. The aim of this study was to determine cytogenetic patterns of highly purified aberrant plasma cells (median purity ≥ 98%) in different clonal plasma cell disorders. We analyzed aberrant plasma cells from 208 patients with multiple myeloma (n=148) and monoclonal gammopathy of undetermined significance (n=60) for the presence of del(13q14), del(17p13) and t(14q32) using multicolor interphase fluorescence in situ hybridization. Additionally, immunoglobulin heavy chain gene arrangements were analyzed and complementarity determining region 3 was sequenced in a subset of patients and combined multicolor interphase fluorescence in situ hybridization/immunofluorescent protein staining analyses were performed in selected cases to confirm clonality and cytogenetic findings. At diagnosis, 96% of cases with multiple myeloma versus 77% of monoclonal gammopathy of undetermined significance cases showed at least one cytogenetic alteration and/or hyperdiploidy. The cytogenetic heterogeneity of individual cases reflected coexistence of cytogenetically-defined aberrant plasma cell clones, and led to the assumption that karyotypic alterations were acquired stepwise. Cases of multiple myeloma and monoclonal gammopathy of undetermined significance frequently showed different but related cytogenetic profiles when other cytogenetic alterations such as deletions/gains of the immunoglobulin heavy chain or the fibroblast growth factor receptor 3 were additionally considered. Interestingly, in 24% of multiple myeloma versus 62% of monoclonal gammopathy of undetermined significance patients with an immunoglobulin heavy chain translocation, aberrant plasma cells with and without t(14q32) coexisted in the same patient. Our data suggest that

  3. Microcontroller for automation application

    Science.gov (United States)

    Cooper, H. W.

    1975-01-01

    The description of a microcontroller currently being developed for automation application was given. It is basically an 8-bit microcomputer with a 40K byte random access memory/read only memory, and can control a maximum of 12 devices through standard 15-line interface ports.

  4. Automated Composite Column Wrapping

    OpenAIRE

    ECT Team, Purdue

    2007-01-01

    The Automated Composite Column Wrapping is performed by a patented machine known as Robo-Wrapper. Currently there are three versions of the machine available for bridge retrofit work depending on the size of the columns being wrapped. Composite column retrofit jacket systems can be structurally just as effective as conventional steel jacketing in improving the seismic response characteristics of substandard reinforced concrete columns.

  5. Automated Web Applications Testing

    Directory of Open Access Journals (Sweden)

    Alexandru Dan CĂPRIŢĂ

    2009-01-01

    Full Text Available Unit tests are a vital part of several software development practicesand processes such as Test-First Programming, Extreme Programming andTest-Driven Development. This article shortly presents the software quality andtesting concepts as well as an introduction to an automated unit testingframework for PHP web based applications.

  6. Automated Student Model Improvement

    Science.gov (United States)

    Koedinger, Kenneth R.; McLaughlin, Elizabeth A.; Stamper, John C.

    2012-01-01

    Student modeling plays a critical role in developing and improving instruction and instructional technologies. We present a technique for automated improvement of student models that leverages the DataShop repository, crowd sourcing, and a version of the Learning Factors Analysis algorithm. We demonstrate this method on eleven educational…

  7. 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…

  8. ERGONOMICS AND PROCESS AUTOMATION

    OpenAIRE

    Carrión Muñoz, Rolando; Docente de la FII - UNMSM

    2014-01-01

    The article shows the role that ergonomics in automation of processes, and the importance for Industrial Engineering.  El artículo nos muestra el papel que tiene la ergonomía en la automatización de los procesos, y la importancia para la Ingeniería Industrial.

  9. 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...

  10. 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...

  11. 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.

  12. Detection of human aneuploidies in prenatal and postnatal diagnosis using molecular cytogenetics

    Directory of Open Access Journals (Sweden)

    Kucheria Kiran

    2002-01-01

    Full Text Available Chromosomal aneuploidies especially trisomies 13, 18, 21, monosomy X and 47, XXY account for up to 95% of live born cytogenetic abnormalities. The diagnosis of aneuploidies usually done by conventional cytogenetic analysis (CCA is associated with technical difficulties and requires about 1-3 weeks for providing a result, especially in prenatal diagnosis. In the present study, Fluorescence In Situ Hybridization (FISH was used on interphase cells for rapid prenatal and postnatal detection of aneuploidies. The frequent indications of high pregnancies included for prenatal diagnosis were previous child with chromosomal abnormalities, abnormal ultrasound scan and advanced maternal age (> 35 years. Interphase FISH was done using probes specific for chromosomes 13, 18, 21, X and Y on uncultured chorionic villi and amniotic fluid samples. All samples were analyzed subsequently using conventional cytogenetics. The analysis of aneuploidies for chromosomes 13, 15, 16, 18, 21, 22, X and Y using FISH was extended to abortuses from spontaneous abortion cases. In cases where cytogenetics was not informative, a diagnosis could be made using interphase FISH. For postnatal diagnosis, interphase FISH was done to confirm low-level mosaicism in patients with primary amenorrhea, suspected cases of Klinefelter syndrome, and mental retardation using probes specific for various autosomes, X and Y chromosomes. FISH was also done using probe specific for the sex-determining region (SRY on the Y chromosome in cases with ambiguous genitalia. The SRY region could be identified in cases that lacked the Y chromosome on conventional cytogenetic analysis thereby emphasizing on the high resolution of FISH technique in detecting sub-microscopic rearrangements. To conclude, interphase FISH decreases the time interval between sampling and diagnosis. This is of tremendous value in prenatal diagnosis of urgent high-risk pregnancies, management of ambiguous genitalia and low

  13. Dioxins and cytogenetic status of villagers after 40 years of agent Orange application in Vietnam.

    Science.gov (United States)

    Sycheva, Lyudmila P; Umnova, Nataliya V; Kovalenko, Maria A; Zhurkov, Vjacheslav S; Shelepchikov, Andrey A; Roumak, Vladimir S

    2016-02-01

    We have examined cytogenetic status of the rural population living on dioxin-contaminated territories (DCT, TCDD in soil 2.6 ng/kg) compared to the villagers of the control area (TCDD in soil 0.18 ng kg(-1)). The examination took place almost 40 years after the war. The consequences of some confounding factors (years of residence in the region, farming, and aging) has been examined. Karyological analysis of buccal and nasal epitheliocytes among healthy adult males living on DCT and control area (26 and 35 persons) was conducted. A wide range of cytogenetic (micronuclei, nuclear protrusions), proliferative (binucleated cells and cells with doubled nucleus) and endpoints of cell death (cells with perinuclear vacuoles, with damaged nucleus membrane, condensed chromatin, pyknosis, karyorrhexis, karyolysis) had been analyzed. The frequent amount of cells with nuclear protrusions in both epithelia was slightly decreased in the DСT group. Biomarkers of early and late stages of nuclear destruction in buccal epithelium (cells with damaged nuclear membrane, karyolysis) were elevated significantly in DCT. Higher level of the same parameters was also identified in nasal epithelium. The cytogenetic status of healthy adult males on DCT had got "normalization" by present moment in comparison with our early data. Nevertheless, in exposed group some alteration of the cytogenetic status was being registered (mostly biomarkers of apoptosis). Years of residence (and exposure to dioxins) affected the cytogenetic status of DCT inhabitants, whereas no influence of farming factors (pesticides, fertilizers, etc.) had been discovered. Some biomarkers of proliferation and cell death were affected by aging.

  14. 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.

  15. Biological dosimetry -- cytogenetics findings at persons occupationally exposed to ionizing radiation.

    Science.gov (United States)

    Catović, Amra; Tanacković, Fikreta

    2006-05-01

    A large number of physical and chemical agents are capable to course chromosomal aberrations. Ionizing radiation is frequent and well known course of chromosomal aberrations. If deoxyribonucleic acid (DNA) is irradiated before synthesis chromosomal-type aberrations are caused. Chromatid-type aberrations are results of DNA damages occurred during or after synthesis. Some of these changes could exist at patients several years after exposition. Biological dosimetry-cytogenetics analysis of persons occupational exposed to ionizing radiation in Federation of Bosnia and Herzegovina have been carried out in "Center for Human Genetics" of Medical Faculty in Sarajevo. In this study we have evaluated cytogenetics findings of persons employed in a zone of radiation. Cytogenetics findings have been demonstrated in allowed limit in 154 (81.1%) examinees, and cytogenetics findings were out of normal values in 36 (18.9%) examinees. The majorities who have been employed in a zone of ionizing radiation were in age group 40-44 (25.3%) and age group 45-49 (24.7%). Radiological technicians (35.7%) were exposed the most to ionizing radiation, than clinical nurse specialists (14.7%), radiologists (11.1), physicians (7.4%) machines technicians (6.3%), pneumologists (4.7%), orthopedists (4.2%) and scrub nurses (4.2%). Biological dosimetry-cytogenetics analysis have been carried out at 108 (56.8%) male and 82 (43.2%) female examinees. The most frequent aberration have been presented with 26.8% in the form of acentric fragments, than chromatid fragments with 21.2%, dicentric chromosomes with 19.5%, gaps with 18.7%, minutes with 12.2% and inter-arm interchanges with 1.6%.

  16. Targeted deep sequencing improves outcome stratification in chronic myelomonocytic leukemia with low risk cytogenetic features

    Science.gov (United States)

    Palomo, Laura; Garcia, Olga; Arnan, Montse; Xicoy, Blanca; Fuster, Francisco; Cabezón, Marta; Coll, Rosa; Ademà, Vera; Grau, Javier; Jiménez, Maria-José; Pomares, Helena; Marcé, Sílvia; Mallo, Mar; Millá, Fuensanta; Alonso, Esther; Sureda, Anna; Gallardo, David; Feliu, Evarist; Ribera, Josep-Maria; Solé, Francesc; Zamora, Lurdes

    2016-01-01

    Clonal cytogenetic abnormalities are found in 20-30% of patients with chronic myelomonocytic leukemia (CMML), while gene mutations are present in >90% of cases. Patients with low risk cytogenetic features account for 80% of CMML cases and often fall into the low risk categories of CMML prognostic scoring systems, but the outcome differs considerably among them. We performed targeted deep sequencing of 83 myeloid-related genes in 56 CMML patients with low risk cytogenetic features or uninformative conventional cytogenetics (CC) at diagnosis, with the aim to identify the genetic characteristics of patients with a more aggressive disease. Targeted sequencing was also performed in a subset of these patients at time of acute myeloid leukemia (AML) transformation. Overall, 98% of patients harbored at least one mutation. Mutations in cell signaling genes were acquired at time of AML progression. Mutations in ASXL1, EZH2 and NRAS correlated with higher risk features and shorter overall survival (OS) and progression free survival (PFS). Patients with SRSF2 mutations associated with poorer OS, while absence of TET2 mutations (TET2wt) was predictive of shorter PFS. A decrease in OS and PFS was observed as the number of adverse risk gene mutations (ASXL1, EZH2, NRAS and SRSF2) increased. On multivariate analyses, CMML-specific scoring system (CPSS) and presence of adverse risk gene mutations remained significant for OS, while CPSS and TET2wt were predictive of PFS. These results confirm that mutation analysis can add prognostic value to patients with CMML and low risk cytogenetic features or uninformative CC. PMID:27486981

  17. Automating spectral measurements

    Science.gov (United States)

    Goldstein, Fred T.

    2008-09-01

    This paper discusses the architecture of software utilized in spectroscopic measurements. As optical coatings become more sophisticated, there is mounting need to automate data acquisition (DAQ) from spectrophotometers. Such need is exacerbated when 100% inspection is required, ancillary devices are utilized, cost reduction is crucial, or security is vital. While instrument manufacturers normally provide point-and-click DAQ software, an application programming interface (API) may be missing. In such cases automation is impossible or expensive. An API is typically provided in libraries (*.dll, *.ocx) which may be embedded in user-developed applications. Users can thereby implement DAQ automation in several Windows languages. Another possibility, developed by FTG as an alternative to instrument manufacturers' software, is the ActiveX application (*.exe). ActiveX, a component of many Windows applications, provides means for programming and interoperability. This architecture permits a point-and-click program to act as automation client and server. Excel, for example, can control and be controlled by DAQ applications. Most importantly, ActiveX permits ancillary devices such as barcode readers and XY-stages to be easily and economically integrated into scanning procedures. Since an ActiveX application has its own user-interface, it can be independently tested. The ActiveX application then runs (visibly or invisibly) under DAQ software control. Automation capabilities are accessed via a built-in spectro-BASIC language with industry-standard (VBA-compatible) syntax. Supplementing ActiveX, spectro-BASIC also includes auxiliary serial port commands for interfacing programmable logic controllers (PLC). A typical application is automatic filter handling.

  18. Simple biodosimetry method for cases of high-dose radiation exposure using the ratio of the longest/shortest length of Giemsa-stained drug-induced prematurely condensed chromosomes (PCC).

    Science.gov (United States)

    Gotoh, E; Tanno, Y

    2005-05-01

    The aim was to develop a simple biodosimetry method for as rapid as possible estimation of absorbed radiation doses in victims of radiation accidents, in particular after high-dose exposure. Human peripheral blood lymphocytes (PBL) were gamma-irradiated in vitro with several doses up to 40 Gy stimulated with phytohaemagglutinin-P (PHA-P) for 2 days and their chromosomes condensed prematurely using 50 nm calyculin A. Chromosome lengths of Giemsa-stained G2 prematurely condensed chromosomes (PCC) were measured using image analysing software and the ratio of the longest/shortest chromosome length was calculated. The length ratio (LR) of the longest/shortest Giemsa-stained chromosome s increased with a good correlation to the square root of the radiation dose (D) up to 40 Gy, i.e. LR = (4.90 x D0.5) + 2.14. The LR of the longest/shortest chromosome might be used as an index for estimating the radiation dose. The blood samples should not be cooled until the start of separation/stimulation of the lymphocytes. A rapid and easy estimation of large doses after whole-body exposure was identified by measuring the ratio of the longest/shortest length of Giemsa-stained G2-PCC induced by calyculin A. This simple protocol will be particularly useful for making therapy decisions for victims of ionizing radiation exposure and has potential for use as a biodosimeter for partial-body exposure accidents.

  19. Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome

    Directory of Open Access Journals (Sweden)

    Rajasekhar Moka

    2013-01-01

    Full Text Available Aim: The objective of this study was to correlate the genotype, of female patients, withshort stature and primary amenorrhea. Materials and Methods: One hundred and forty-six subjects were recruited during 2005-2012. Microscopic and automated karyotyping analyses were done by using chromosomes isolated from the lymphocytes using Giemsa banding (GTG to identify chromosome abnormalities. Results: A total of 146 clinically suspected Turner syndrome (TS subjects were recruited for the study, of which, 61 patients were identified to have chromosome abnormalities. The chromosomal abnormalities detected were as follows: Monosomy X (n = 19, 13.01%, triple X syndrome (n = 4, 2.7%, mosaic TS (n = 12, 8.21%, XY gonadal dysgenesis (n = 13, 8.9%, and structural abnormalities including X chromosome (n = 15, 10.27% and one patient each with autosomal changes involving 9qh inversion and translocation of chromosomes 12 and 14. Conclusion: Karyotype abnormalities accounting for 46% in this study emphasize the need for karyotype testing in cases of short stature with primary amenorrhea.

  20. Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome

    Science.gov (United States)

    Moka, Rajasekhar; Sreelakshmi, Kodandapani; Gopinath, Puthiya Mundyat; Satyamoorthy, Kapettu

    2013-01-01

    AIM: The objective of this study was to correlate the genotype, of female patients, withshort stature and primary amenorrhea. MATERIALS AND METHODS: One hundred and forty-six subjects were recruited during 2005-2012. Microscopic and automated karyotyping analyses were done by using chromosomes isolated from the lymphocytes using Giemsa banding (GTG) to identify chromosome abnormalities. RESULTS: A total of 146 clinically suspected Turner syndrome (TS) subjects were recruited for the study, of which, 61 patients were identified to have chromosome abnormalities. The chromosomal abnormalities detected were as follows: Monosomy X (n = 19, 13.01%), triple X syndrome (n = 4, 2.7%), mosaic TS (n = 12, 8.21%), XY gonadal dysgenesis (n = 13, 8.9%), and structural abnormalities including X chromosome (n = 15, 10.27%) and one patient each with autosomal changes involving 9qh inversion and translocation of chromosomes 12 and 14. CONCLUSION: Karyotype abnormalities accounting for 46% in this study emphasize the need for karyotype testing in cases of short stature with primary amenorrhea. PMID:24082654

  1. 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.

  2. Rapid automated nuclear chemistry

    Energy Technology Data Exchange (ETDEWEB)

    Meyer, R.A.

    1979-05-31

    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.

  3. The automation of science.

    Science.gov (United States)

    King, Ross D; Rowland, Jem; Oliver, Stephen G; Young, Michael; Aubrey, Wayne; Byrne, Emma; Liakata, Maria; Markham, Magdalena; Pir, Pinar; Soldatova, Larisa N; Sparkes, Andrew; Whelan, Kenneth E; Clare, Amanda

    2009-04-03

    The basis of science is the hypothetico-deductive method and the recording of experiments in sufficient detail to enable reproducibility. We report the development of Robot Scientist "Adam," which advances the automation of both. Adam has autonomously generated functional genomics hypotheses about the yeast Saccharomyces cerevisiae and experimentally tested these hypotheses by using laboratory automation. We have confirmed Adam's conclusions through manual experiments. To describe Adam's research, we have developed an ontology and logical language. The resulting formalization involves over 10,000 different research units in a nested treelike structure, 10 levels deep, that relates the 6.6 million biomass measurements to their logical description. This formalization describes how a machine contributed to scientific knowledge.

  4. The Automated Medical Office

    OpenAIRE

    1990-01-01

    With shock and surprise many physicians learned in the 1980s that they must change the way they do business. Competition for patients, increasing government regulation, and the rapidly escalating risk of litigation forces physicians to seek modern remedies in office management. The author describes a medical clinic that strives to be paperless using electronic innovation to solve the problems of medical practice management. A computer software program to automate information management in a c...

  5. Automation of printing machine

    OpenAIRE

    Sušil, David

    2016-01-01

    Bachelor thesis is focused on the automation of the printing machine and comparing the two types of printing machines. The first chapter deals with the history of printing, typesettings, printing techniques and various kinds of bookbinding. The second chapter describes the difference between sheet-fed printing machines and offset printing machines, the difference between two representatives of rotary machines, technological process of the products on these machines, the description of the mac...

  6. Automated Cooperative Trajectories

    Science.gov (United States)

    Hanson, Curt; Pahle, Joseph; Brown, Nelson

    2015-01-01

    This presentation is an overview of the Automated Cooperative Trajectories project. An introduction to the phenomena of wake vortices is given, along with a summary of past research into the possibility of extracting energy from the wake by flying close parallel trajectories. Challenges and barriers to adoption of civilian automatic wake surfing technology are identified. A hardware-in-the-loop simulation is described that will support future research. Finally, a roadmap for future research and technology transition is proposed.

  7. 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.

  8. Automation in biological crystallization

    Science.gov (United States)

    Shaw Stewart, Patrick; Mueller-Dieckmann, Jochen

    2014-01-01

    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. PMID:24915074

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

    Energy Technology Data Exchange (ETDEWEB)

    Kubelka, D.; Fucic, A.; Milkovic-Kraus, S. (University of Zagreb (Yugoslavia). Institute for Medical research and Occupational Health)

    1992-11-01

    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.

  10. Contaminant analysis automation demonstration proposal

    Energy Technology Data Exchange (ETDEWEB)

    Dodson, M.G.; Schur, A.; Heubach, J.G.

    1993-10-01

    The nation-wide and global need for environmental restoration and waste remediation (ER&WR) presents significant challenges to the analytical chemistry laboratory. The expansion of ER&WR programs forces an increase in the volume of samples processed and the demand for analysis data. To handle this expanding volume, productivity must be increased. However. The need for significantly increased productivity, faces contaminant analysis process which is costly in time, labor, equipment, and safety protection. Laboratory automation offers a cost effective approach to meeting current and future contaminant analytical laboratory needs. The proposed demonstration will present a proof-of-concept automated laboratory conducting varied sample preparations. This automated process also highlights a graphical user interface that provides supervisory, control and monitoring of the automated process. The demonstration provides affirming answers to the following questions about laboratory automation: Can preparation of contaminants be successfully automated?; Can a full-scale working proof-of-concept automated laboratory be developed that is capable of preparing contaminant and hazardous chemical samples?; Can the automated processes be seamlessly integrated and controlled?; Can the automated laboratory be customized through readily convertible design? and Can automated sample preparation concepts be extended to the other phases of the sample analysis process? To fully reap the benefits of automation, four human factors areas should be studied and the outputs used to increase the efficiency of laboratory automation. These areas include: (1) laboratory configuration, (2) procedures, (3) receptacles and fixtures, and (4) human-computer interface for the full automated system and complex laboratory information management systems.

  11. Cytogenetic and andrological status and ICSI-results in couples with severe male factor infertility

    Institute of Scientific and Technical Information of China (English)

    G.Haidl; B.Peschka; G.Schwanitz; M.Montag; K.vanderVen; H.vanderVen

    2000-01-01

    Aim: To pursue whether cytogenetic aberrations correlate with specific spermatological or hormonal abnormalities.Methods: 305 infertile couples were investigated. All male partners were referred to a complete andrological workup with physical examination, determination of hormones, HIV testing and semen analysis. Cytogenetic analysis was carried out in both partners by means of standard techniques using cultured lymphocytes from peripheral blood. Results: Among the 305 couples, 10 men (3.2%) and 10 women (3.2%) showed constitutional chromosomal aberrations, including reciprocal translocations (n=7), Robertsonian translocations (n=3), inversions (n=3), other structural aberrations (n=4) and sex chromosome aberrations (n=3). In addition to the impaired sperm count in most of the patients, a tendency to an increased proportion of spermatozoa with acrosome defect was observed. Conclusion. Chromosomal aberrations may contribute to the low fertilization and pregnancy rates in the infertile couples.(Asian J Androl 2000 Dec;2:293-296)

  12. The cytogenetics and evolution of forage legumes from Rio Grande do Sul: a review

    Directory of Open Access Journals (Sweden)

    Maria Teresa Schifino-Wittmann

    2000-12-01

    Full Text Available The work developed by the Cytogenetics Group of the Department of Forage Plants and Agrometeorology (Departamento de Plantas Forrageiras e Agrometerologia - DPFA, Agronomy Faculty, Federal University of Rio Grande do Sul (UFRGS, are reviewed in the present study. Topics discussed include: the chromosome numbers and meiotic behavior of Desmodium and Vigna; the application of cytogenetic methods (e.g., polyploidy induction in Trifolium riograndense to plant breeding; the genetic control of chromosome pairing in autopolyploids of T. riograndense; karyotypes of the Vicia sativa aggregate in Southern Brazil as an example of a founder effect leading to a reduction in karyotype but not to morphological variability; data on the karyotypes of four Lathyrus species which show that the evolution of these species has been accompanied by a decrease in chromosome size, and the results of an investigation of variability in chromosome number in a complete genus, Leucaena. The main objectives of the group for the near future are also outlined.

  13. 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.

  14. Abilities of cultural plants’ state indicationin agrophytocenoses by different morphology-physiological and cytogenetic indices

    Directory of Open Access Journals (Sweden)

    I. О. Oginova

    2009-01-01

    Full Text Available Mathematical models system allowing assessing the state of 7 weeds species by the allelopathic activity and some morphology-physiological and cytogenetic indices is presented. There are many morphology-physiological and cytogenetic features may be used for the bioindication of cultural plants’ state. They are height, leaf area, chlorophyll or carotenoids content, mitotic index, DNA content in the interphase nuclei of root meristem cells, somatic mutations level, truss size, pollen sterility and fertile pollen grains volume. These features essentially depend on the allelopathic activity of the weeds and different techniques of the crops management. They set up the uniform system in which every constituent may harmonize its changes with the other ones, that furthers the maintenance equilibrium in a biogeocoenosis.

  15. Increased oxidative damage associated with unfavorable cytogenetic subgroups in chronic lymphocytic leukemia.

    Science.gov (United States)

    Collado, Rosa; Ivars, David; Oliver, Isabel; Tormos, Carmen; Egea, Mercedes; Miguel, Amparo; Sáez, Guillermo T; Carbonell, Félix

    2014-01-01

    Oxidative stress contributes to genomic instability in chronic lymphocytic leukemia (CLL), but its relationship with the acquisition of specific chromosomal abnormalities is unknown. We recruited 55 untreated CLL patients and assessed 8-oxo-2'-deoxyguanosine (8-oxo-dG), glutathione, and malondialdehyde (MDA) levels, and we compared them among the cytogenetic subgroups established using fluorescence in situ hybridization (FISH). Significant increases in 8-oxo-dG and/or MDA were observed in patients with unfavorable cytogenetic aberrations (17p and 11q deletions) compared to the 13q deletion group. TP53 deletion patients exhibited a diminished DNA repair efficiency. Finally, cases with normal FISH also showed enhanced 8-oxo-dG, which could result in adverse outcomes.

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

    Science.gov (United States)

    Ferreira, J; Mendes, S; Dall'agnol, M; Sandal, N; Sato, S; Pedrosa-Harand, A

    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 and 5, a new rearrangement for the genus. Also, a transposition on chromosome 2 was found in L. japonicus 'Miyakojima'. Furthermore, changes in the number, size, and position of rDNA sites were observed, as well as an intraspecific size heteromorphism of the 5S rDNA site on L. uliginosus chromosome 6. The karyotype differences observed are proportional to the phylogenetic distance among these species.

  17. 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.

  18. Medical applications of array CGH and the transformation of clinical cytogenetics.

    Science.gov (United States)

    Shaffer, L G; Bejjani, B A

    2006-01-01

    Microarray-based comparative genomic hybridization (array CGH) merges molecular diagnostics with traditional chromosome analysis and is transforming the field of cytogenetics. Prospective studies of individuals with developmental delay and dysmorphic features have demonstrated that array CGH has the ability to detect any genomic imbalance including deletions, duplications, aneuploidies and amplifications. Detection rates for chromosome abnormalities with array CGH range from 5-17% in individuals with normal results from prior routine cytogenetic testing. In addition, copy number variants (CNVs) were identified in all studies. These CNVs may include large-scale variation and can confound the diagnostic interpretations. Although cytogeneticists will require additional training and laboratories must become appropriately equipped, array CGH holds the promise of being the initial diagnostic tool in the identification of visible and submicroscopic chromosome abnormalities in mental retardation and other developmental disabilities.

  19. Interphase cytogenetics in pathology: principles, methods, and applications of fluorescence in situ hybridization (FISH).

    Science.gov (United States)

    Werner, M; Wilkens, L; Aubele, M; Nolte, M; Zitzelsberger, H; Komminoth, P

    1997-01-01

    Characteristic chromosome aberrations have been identified in various tumors. Fluorescence in situ hybridization (FISH) using specific probes that are generated by vector cloning or in vitro amplification and labeled with fluorescent dyes allow for the detection of these genetic changes in interphase cells. This technique, that is also referred to as "interphase cytogenetics", can be performed in cytological preparations as well as in sections of routinely formaldehyde-fixed and paraffin-embedded tissue. In cancer research and diagnostics, interphase cytogenetics by FISH is used to detect numerical chromosome changes and structural aberrations, e.g., translocations, deletions, or amplifications. In this technical overview, we explain the principles of the FISH method and provide protocols for FISH in cytological preparations and paraffin sections. Moreover, possible applications of FISH are discussed.

  20. 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.

  1. Study on Effect of Aloe Glue on Cytogenetics, Cellular Immunity and Cell Proliferation of Human Cells

    Institute of Scientific and Technical Information of China (English)

    ZHANG Jiahua; WEN Shaluo; XIA Yun; ZHANG Lijun

    2002-01-01

    Objective To provide the scientific evidence for the exploiture of aloe resource. Methods Cytological combined determination was used to study the effect of aloe glue(0.01 ~ 0.3ml) on cytogenetics, cellular immunity and cell proliferation of human cells. Results SCE and MNR in varying dose groups had no significant differences as compared with control group( P > 0.05). LTR was significantly higher than that of control group(P < 0.005). MI was significantly higher than that of control group ( P < 0.05). M3 and PRI in highest dose group had significant differences as compared with control group (P < 0.05). Conclusion Aloe gel had no significant effect on cytogenetics. But it had activating effects on immunity and proliferation of cells.

  2. Astylus variegatus (Coleoptera, Melyridae): Cytogenetic study of a population exposed to agrochemical products

    OpenAIRE

    Marielle Cristina Schneider; Bianca Pierina Carraro; Doralice Maria Cella; Rodrigo Rodrigues Matiello; Roberto Ferreira Artoni; Mara Cristina de Almeida

    2007-01-01

    In this work we describe the cytogenetic analyses performed in specimens of Astylus variegatus (Germar, 1824) collected in two localities: one area of natural vegetation and one of agricultural crops, where agrochemical products were used. Astylus variegatus had karyotypes with 2n(male) = 16+Xy p and 2n (female) = 16+XXp, with exclusively metacentric chromosomes. Pachytene spermatocytes showed synapsed autosomal bivalents and non-associated sex chromosomes. In diplotene, the autosomal bivalen...

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

    Science.gov (United States)

    Blokx, Willeke Am M; van Dijk, Marcory C R F; Ruiter, Dirk 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 these cytogenetic alterations in melanocytic tumours are described. In addition, the potential value of more novel techniques such as multiplex ligation-dependent probe amplification is pointed out. This review demonstrates that at present cytogenetics has mainly increased our understanding of the pathogenesis of melanocytic tumours, with an important role for activation of the mitogen-activated protein kinase (MAPK) signalling pathway in the initiation of melanocytic tumours. Mutations in BRAF (in common naevocellular naevi), NRAS (congenital naevi), HRAS (Spitz naevi) and GNAQ (blue naevi) can all cause MAPK activation. All these mutations seem early events in the development of melanocytic tumours, but by themselves are insufficient to cause progression towards melanoma. Additional molecular alterations are implicated in progression towards melanoma, with different genetic alterations in melanomas at different sites and with varying levels of sun exposure. This genetic heterogeneity in distinct types of naevi and melanomas can be used for the development of molecular tests for diagnostic purposes. However, at the moment only few molecular tests have become of diagnostic value and are performed in daily routine practice. This is caused by lack of large prospective studies on the diagnostic value of molecular tests including follow-up, and by the low prevalence of certain molecular alterations. For the future we foresee an increasing role for cytogenetics in the treatment of melanoma patients with the increasing availability of targeted therapy. Potential targets for metastatic melanoma include genes involved in the MAPK pathway, such as BRAF and RAS. More recently, KIT

  4. The prognostic significance of cytogenetics and molecular profiling in multiple myeloma.

    Science.gov (United States)

    Sawyer, Jeffrey R

    2011-01-01

    Multiple myeloma (MM) is a plasma cell malignancy characterized by very complex cytogenetic and molecular genetic aberrations. In newly diagnosed symptomatic patients, the modal chromosome number is usually either hyperdiploid with multiple trisomies or hypodiploid with one of several types of immunoglobulin heavy chain (Ig) translocations. The chromosome ploidy status and Ig rearrangements are two genetic criteria that are used to help stratify patients into prognostic groups based on the findings of conventional cytogenetics and fluorescence in situ hybridization (FISH). In general, the hypodiploid group with t(4;14)(p16;q32) or t(14;16)(q32;q23) is considered a high-risk group, while the hyperdiploid patients with t(11;14)(q13;q32) are considered a better prognostic group. As the disease progresses, it becomes more proliferative and develops a number of secondary chromosome aberrations. These secondary aberrations commonly involve MYC rearrangements, del(13q), del(17p), and the deletion of 1p and/or amplification of 1q. Of the secondary aberrations, del(17p) is consistently associated with poor prognosis. All of these cytogenetic aberrations and many additional ones are now identified by means of high resolution molecular profiling. Gene expression profiling (GEP), array comparative genomic hybridization (aCGH), and single-nucleotide polymorphism (SNP) arrays have been able to identify novel genetic aberration patterns that have previously gone unrecognized. With the integration of data from these profiling techniques, new subclassifications of MM have been proposed which define distinct molecular genetic subgroups. In this review, the findings from conventional cytogenetics, interphase FISH, GEP, aCGH, and SNP profiles are described to provide the conceptual framework for defining the emerging molecular genetic subgroups with prognostic significance.

  5. [Analysis of DNA and chromosome damage by the methods of molecular cytogenetics].

    Science.gov (United States)

    Arutiunian, R M; Oganesian, G G

    2011-01-01

    The main hybrid techniques of molecular cytogenetics are described. Methodological aspects of combination of fluorescence in situ hybridization (FISH) with the comet assay and micronuclei (MN) test are discussed along with results of their application to evaluate and locate DNA and chromosome damage in the genome. The experience of the authors with the application of FISH in combination with the comet assay and MN test are reported.

  6. Multiple endocrine neoplasia type 2 (Sipple's syndrome): clinical and cytogenetic analysis of a kindred.

    OpenAIRE

    Zatterale, A.; Stabile, M; Nunziata, V; Di Giovanni, G.; Vecchione, R; Ventruto, V

    1984-01-01

    This report describes the clinical and cytogenetic analysis of a kindred with multiple endocrine neoplasia type 2 (MEN-2 or Sipple's syndrome) in two generations. Medullary thyroid carcinoma was present in five members either as a large or as an occult tumour. Phaeochromocytoma was demonstrated in one severely hypertensive relative and urine vanillylmandelic acid (VMA) was increased in one normotensive member. Serum parathormone (PTH) was normal in all but one normocalcaemic patient of this f...

  7. Construction of a cytogenetic dose-response curve for low-dose range gamma-irradiation in human peripheral blood lymphocytes using three-color FISH.

    Science.gov (United States)

    Suto, Yumiko; Akiyama, Miho; Noda, Takashi; Hirai, Momoki

    2015-12-01

    In order to estimate biological doses after low-dose ionizing radiation exposure, fluorescence in situ hybridization (FISH) using three differentially colored chromosome painting probes was employed to detect exchange-type chromosome aberrations. A reference dose response curve was constructed using blood samples from a female donor whose lymphocytes consistently exhibited a low frequency of cells at the second mitosis under routine culture conditions. Aberration yields were studied for a total of about 155 thousand metaphases obtained from seven dose-points of gamma irradiations (0, 50, 100, 150, 200, 250 and 300mGy). In situ hybridization was performed using commercially available painting probes for chromosomes 1, 2 and 4. With the aid of an automated image-capturing method, exchange-type aberrations involving painted chromosomes were detected with considerable accuracy and speed. The results on the exchange-type aberrations (dicentrics plus translocations) at the seven dose-points showed a good fit to the linear-quadratic model (y=0.0023+0.0015x+0.0819x(2), P=0.83). A blind test proved the reproducibility of the reference dose-response relationship. In the control experiments using blood samples from another donor, the estimated doses calculated on the basis of the present reference curve were proved to be in good agreement with the actual physical doses applied. The present dose-response curve may serve as a means to assess the individual differences in cytogenetical radio-sensitivities.

  8. Cytogenetic Study in Children with Down Syndrome Among Kosova Albanian Population Between 2000 and 2010

    Science.gov (United States)

    Kolgeci, Selim; Kolgeci, Jehona; Azemi, Mehmedali; Shala-Beqiraj, Ruke; Gashi, Zafer; Sopjani, Mentor

    2013-01-01

    Conflict of interest: none declared. Aim The aim of this research was to ascertain the frequency of three basic cytogenetical types of Down syndrome among Kosova Albanian population and to evaluate the maternal age effect on the frequency of births of children with Down syndrome. Methods Cytogenetics diagnosis has been made according to the standard method of Moorhead and Seabright. Results In the time period 2000-2010 cytogenetics diagnosis of overall 305 children with Down syndrome has been realized. Of which in 285 children (93.4%) were found free trisomy 21 (regular type), and in three other children (~1.0%) were detected mosaic trisomy 21. Translocation trisomy 21 was detected in 17 children (5.6%), of which in 14 children it occurred de novo translocation, whereas in 3 other children translocation has been inherited by a parent translocation carrier. The highest number of children with Trisomy 21 due to translocation was caused by Robertsonian translocation created by a fusion of two homologous chromosomes 21 (3.3%). Analysis showed that the number of children born with Down’s syndrome, from 2000 to 2010, was not decreasing among the Kosova Albanian population. Conclusion Down syndrome resulted by an extra free chromosome 21 is the most common genetic cause for that condition. Robertsonian translocations present in Down syndrome children often are de novo or inherited from a carrier parent with translocation. PMID:24082839

  9. Molecular prognostic markers for adult acute myeloid leukemia with normal cytogenetics

    Directory of Open Access Journals (Sweden)

    Gregory Tara K

    2009-06-01

    Full Text Available Abstract Acute myeloid leukemia (AML is a heterogenous disorder that results from a block in the differentiation of hematopoietic progenitor cells along with uncontrolled proliferation. In approximately 60% of cases, specific recurrent chromosomal aberrations can be identified by modern cytogenetic techniques. This cytogenetic information is the single most important tool to classify patients at their initial diagnosis into three prognostic categories: favorable, intermediate, and poor risk. Currently, favorable risk AML patients are usually treated with contemporary chemotherapy while poor risk AML patients receive allogeneic stem cell transplantation if suitable stem cell donors exist. The largest subgroup of AML patients (~40% have no identifiable cytogenetic abnormalities and are classified as intermediate risk. The optimal therapeutic strategies for these patients are still largely unclear. Recently, it is becoming increasingly evident that it is possible to identify a subgroup of poorer risk patients among those with normal cytogenic AML (NC-AML. Molecular risk stratification for NC-AML patients may be possible due to mutations of NPM1, FLT3, MLL, and CEBPα as well as alterations in expression levels of BAALC, MN1, ERG, and AF1q. Further prospective studies are needed to confirm if poorer risk NC-AML patients have improved clinical outcomes after more aggressive therapy.

  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. An integrated molecular cytogenetic map of Cucumis sativus L. chromosome 2

    Directory of Open Access Journals (Sweden)

    Huang Sanwen

    2011-01-01

    Full Text Available Abstract Background Integration of molecular, genetic and cytological maps is still a challenge for most plant species. Recent progress in molecular and cytogenetic studies created a basis for developing integrated maps in cucumber (Cucumis sativus L.. Results In this study, eleven fosmid clones and three plasmids containing 45S rDNA, the centromeric satellite repeat Type III and the pericentriomeric repeat CsRP1 sequences respectively were hybridized to cucumber metaphase chromosomes to assign their cytological location on chromosome 2. Moreover, an integrated molecular cytogenetic map of cucumber chromosomes 2 was constructed by fluorescence in situ hybridization (FISH mapping of 11 fosmid clones together with the cucumber centromere-specific Type III sequence on meiotic pachytene chromosomes. The cytogenetic map was fully integrated with genetic linkage map since each fosmid clone was anchored by a genetically mapped simple sequence repeat marker (SSR. The relationship between the genetic and physical distances along chromosome was analyzed. Conclusions Recombination was not evenly distributed along the physical length of chromosome 2. Suppression of recombination was found in centromeric and pericentromeric regions. Our results also indicated that the molecular markers composing the linkage map for chromosome 2 provided excellent coverage of the chromosome.

  12. Cytogenetic Abnormalities in Lymphocytes from Victims Exposed to Cobalt-60 Radiation

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    Sai Jun Fan

    2013-08-01

    Full Text Available The present study investigates cytogenetic damage in lymphocytes, derived from three victims who were unfortunately exposed to cobalt-60 (60Co radiation (the 1999 accident occurred in a village in China’s Henan province. Case A of the three victims was exposed to a higher dose of 60Co radiation than Cases B and C. The chromosomal aberrations, cytokinesis-block micronucleus (CBMN, the CBMN assay, and DNA double-strand breaks (DSBs, the comet assay examined in this study are biomarkers for cytogenetic abnormalities. After the lymphocytes collected from the victims were cultured, the frequencies of dicentric chromosomes and rings (dic + r and CBMN in the first mitotic division detected in the lymphocytes of Case A were found to be substantially higher than in Cases B and C. Similarly, the DNA-DSB level found in the peripheral blood collected from Case A was much higher than those of Cases B and C. These results suggest that an acutely enhanced induction of the 60Co-induced cytogenetic abnormality frequency in humans depends on the dose of 60Co radiation. This finding is supported by the data obtained using practical techniques to evaluate early lymphoid-tissue abnormalities induced after exposure to acute radiation.

  13. Study of clinical, haematological and cytogenetic profile of patients with acute erythroid leukaemia

    Science.gov (United States)

    Linu, Jacob Abraham; Udupa, MS Namratha; Madhumathi, DS; Lakshmaiah, KC; Babu, K Govind; Lokanatha, D; Babu, MC Suresh; Lokesh, KN; Rajeev, LK; Rudresha, AH

    2017-01-01

    Background Acute erythroid leukaemia (AEL) is a rare subtype of acute myeloid leukaemia (AML), constituting cytogenetic profile of this disease, considering the rarity of its occurrence and poor prognosis. Materials and methods This study was done by retrospective analysis of data from 32 case files of patients diagnosed with AEL. Clinical details noted down were the demographic profile, peripheral blood smear details and bone marrow examination details: (1) blasts-erythroblasts and myeloblasts, (2) dysplasia in the cell lineages and (3) cytogenetic abnormalities. Results The most common presenting symptom was fever. Pancytopenia at presentation was seen in 81.25% of patients. Dysplasia was observed in bone marrow in 100% of erythroblasts and in 40% of myeloblasts in erythroid/myeloid subtype. In pure myeloid subtype, myeloid and megakaryocytic dysplasias were not obvious. Complex karyotype was noticed only in patients of pEL. Conclusion AEL is a rare group of heterogeneous diseases with many neoplastic and non-neoplastic conditions mimicking the diagnosis. The clinical presentation and cytogenetics are also non-specific, presenting additional challenges to the diagnosis. PMID:28144286

  14. Efficacy of lenalidomide in patients with chronic lymphocytic leukemia with high-risk cytogenetics.

    Science.gov (United States)

    Sher, Taimur; Miller, Kena C; Lawrence, David; Whitworth, Amy; Hernandez-Ilizaliturri, Francisco; Czuczman, Myron S; Miller, Austin; Lawrence, William; Bilgrami, Syed Ali; Sood, Raman; Wood, Margaret T; Block, Annemarie W; Lee, Kelvin; Chanan-Khan, Asher Alban

    2010-01-01

    Patients with chronic lymphocytic lymphoma (CLL) with high-risk cytogenetics [del(11q)(q22.3) or del(17p)(p13.1)] have limited therapeutic options and their prognosis remains poor. This analysis was conducted to determine the clinical activity of lenalidomide in patients with high-risk disease. Relapsed/refractory patients with CLL enrolled in a phase II clinical trial who had del(11q)(q22.3) or del(17p)(p13.1) were included in this analysis. Patients received single agent lenalidomide for 21 days of the 4 week treatment cycle. The overall response rate among patients with high-risk cytogenetics was 38%, with 19% of patients achieving a complete response. Median progression-free survival was 12.1 months, which is higher than demonstrated with other agents in comparable patient populations. In addition, the estimated 2-year survival probability was 58%, demonstrating that the responses achieved with lenalidomide are durable, even in patients with CLL with high-risk disease with poor risk cytogenetics.

  15. Conventional and molecular cytogenetic diagnostic methods in stem cell research: a concise review.

    Science.gov (United States)

    Catalina, Purificación; Cobo, Fernando; Cortés, José L; Nieto, Ana I; Cabrera, Carmen; Montes, Rosa; Concha, Angel; Menendez, Pablo

    2007-09-01

    Regenerative medicine and cell therapy are emerging clinical disciplines in the field of stem cell biology. The most important sources for cell transplantation are human embryonic and adult stem cells. The future use of these human stem cell lines in humans requires a guarantee of exhaustive control with respect to quality control, safety and traceability. Genetic instability and chromosomal abnormalities represent a potential weakness in basic studies and future therapeutic applications based on these stem cell lines, and may explain, at least in part, their usual tumourigenic properties. So, the introduction of the cytogenetic programme in the determination of the chromosomal stability is a key point in the establishment of the stem cell lines. The aim of this review is to provide readers with an up-to-date overview of all the cytogenetic techniques, both conventional methods and molecular fluorescence methods, to be used in a stem cell bank or other stem cell research centres. Thus, it is crucial to optimize and validate their use in the determination of the chromosomal stability of these stem cell lines, and assess the advantages and limitations of these cutting-edge cytogenetic technologies.

  16. 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.

  17. Cytogenetics of the Brazilian Bolitoglossa paraensis (Unterstein, 1930 salamanders (Caudata, Plethodontidae

    Directory of Open Access Journals (Sweden)

    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.

  18. Cytogenetic Prenatal Diagnosis in the Province of Cienfuegos between 2007 and 2010

    Directory of Open Access Journals (Sweden)

    Pedro Alí Díaz-Véliz Jiménez

    2012-11-01

    Full Text Available Background: cytogenetic prenatal diagnosis is nowadays part of the care provided in developed countries to high-risk pregnant women and is an indispensable component of preventive genetic programs driven by the World Health Organization. Objective: To present the results of cytogenetic prenatal diagnosis in the province of Cienfuegos. Methods: A chronological series study was developed at the Provincial Center of Medical Genetics of Cienfuegos on all cytogenetic prenatal diagnoses that were performed between 2007 and 2010. We analyzed causes of study, number of diagnoses and types of anomalies detected. Results: during the period analyzed, 1172 amniocentesis of pregnant patients were processed and 1076 of them were diagnosed for 91, 81 % efficiency. 85,5 % of the cases studied were women over 37 years old. 32 chromosomal abnormalities were detected. The order of frequency of chromosomal abnormalities among the positive cases was: numerical aberrations (65, 63 %, structural aberrations (18, 75 % and mosaics (15,63 %. The most common chromosomal abnormality was Down syndrome with 46,88 % of total aberrations detected. Conclusions: the indicators analyzed behave similarly to those reported in literature both from our country or international.

  19. 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.

  20. Molecular Cytogenetic Mapping of Satellite DNA Sequences in Aegilops geniculata and Wheat.

    Science.gov (United States)

    Koo, Dal-Hoe; Tiwari, Vijay K; Hřibová, Eva; Doležel, Jaroslav; Friebe, Bernd; Gill, Bikram S

    2016-01-01

    Fluorescence in situ hybridization (FISH) provides an efficient system for cytogenetic analysis of wild relatives of wheat for individual chromosome identification, elucidation of homoeologous relationships, and for monitoring alien gene transfers into wheat. This study is aimed at developing cytogenetic markers for chromosome identification of wheat and Aegilops geniculata (2n = 4x = 28, UgUgMgMg) using satellite DNAs obtained from flow-sorted chromosome 5Mg. FISH was performed to localize the satellite DNAs on chromosomes of wheat and selected Aegilops species. The FISH signals for satellite DNAs on chromosome 5Mg were generally associated with constitutive heterochromatin regions corresponding to C-band-positive chromatin including telomeric, pericentromeric, centromeric, and interstitial regions of all the 14 chromosome pairs of Ae. geniculata. Most satellite DNAs also generated FISH signals on wheat chromosomes and provided diagnostic chromosome arm-specific cytogenetic markers that significantly improved chromosome identification in wheat. The newly identified satellite DNA CL36 produced localized Mg genome chromosome-specific FISH signals in Ae. geniculata and in the M genome of the putative diploid donor species Ae. comosa subsp. subventricosa but not in Ae. comosa subsp. comosa, suggesting that the Mg genome of Ae. geniculata was probably derived from subsp. subventricosa.

  1. Application of Molecular Cytogenetic Technique for Rapid Prenatal Diagnosis of Aneuploidies in Iranian Population

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    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.  

  2. Greater Buyer Effectiveness through Automation

    Science.gov (United States)

    1989-01-01

    FOB = free on board FPAC = Federal Procurement Automation Council FPDS = Federal Procurement Data System 4GL = fourth generation language GAO = General...Procurement Automation Council ( FPAC ), entitled Compendium of Automated Procurement Systems in Federal Agencies. The FPAC inventory attempted to identify...In some cases we have updated descriptions of systems identified by the FPAC study, but many of the newer systems are identified here for the first

  3. 78 FR 66039 - Modification of National Customs Automation Program Test Concerning Automated Commercial...

    Science.gov (United States)

    2013-11-04

    ... SECURITY U.S. Customs and Border Protection Modification of National Customs Automation Program Test... National Customs Automation Program (NCAP) test concerning the Simplified Entry functionality in the...'s (CBP's) National Customs Automation Program (NCAP) test concerning Automated...

  4. 77 FR 48527 - National Customs Automation Program (NCAP) Test Concerning Automated Commercial Environment (ACE...

    Science.gov (United States)

    2012-08-14

    ... SECURITY U.S. Customs and Border Protection National Customs Automation Program (NCAP) Test Concerning...: General notice. SUMMARY: This notice announces modifications to the National Customs Automation Program...) National Customs Automation Program (NCAP) test concerning Automated Commercial Environment...

  5. World-wide distribution automation systems

    Energy Technology Data Exchange (ETDEWEB)

    Devaney, T.M.

    1994-12-31

    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.

  6. Automating CPM-GOMS

    Science.gov (United States)

    John, Bonnie; Vera, Alonso; Matessa, Michael; Freed, Michael; Remington, Roger

    2002-01-01

    CPM-GOMS is a modeling method that combines the task decomposition of a GOMS analysis with a model of human resource usage at the level of cognitive, perceptual, and motor operations. CPM-GOMS models have made accurate predictions about skilled user behavior in routine tasks, but developing such models is tedious and error-prone. We describe a process for automatically generating CPM-GOMS models from a hierarchical task decomposition expressed in a cognitive modeling tool called Apex. Resource scheduling in Apex automates the difficult task of interleaving the cognitive, perceptual, and motor resources underlying common task operators (e.g. mouse move-and-click). Apex's UI automatically generates PERT charts, which allow modelers to visualize a model's complex parallel behavior. Because interleaving and visualization is now automated, it is feasible to construct arbitrarily long sequences of behavior. To demonstrate the process, we present a model of automated teller interactions in Apex and discuss implications for user modeling. available to model human users, the Goals, Operators, Methods, and Selection (GOMS) method [6, 21] has been the most widely used, providing accurate, often zero-parameter, predictions of the routine performance of skilled users in a wide range of procedural tasks [6, 13, 15, 27, 28]. GOMS is meant to model routine behavior. The user is assumed to have methods that apply sequences of operators and to achieve a goal. Selection rules are applied when there is more than one method to achieve a goal. Many routine tasks lend themselves well to such decomposition. Decomposition produces a representation of the task as a set of nested goal states that include an initial state and a final state. The iterative decomposition into goals and nested subgoals can terminate in primitives of any desired granularity, the choice of level of detail dependent on the predictions required. Although GOMS has proven useful in HCI, tools to support the

  7. AUTOMATED API TESTING APPROACH

    Directory of Open Access Journals (Sweden)

    SUNIL L. BANGARE

    2012-02-01

    Full Text Available Software testing is an investigation conducted to provide stakeholders with information about the quality of the product or service under test. With the help of software testing we can verify or validate the software product. Normally testing will be done after development of software but we can perform the software testing at the time of development process also. This paper will give you a brief introduction about Automated API Testing Tool. This tool of testing will reduce lots of headache after the whole development of software. It saves time as well as money. Such type of testing is helpful in the Industries & Colleges also.

  8. The automated medical office.

    Science.gov (United States)

    Petreman, M

    1990-08-01

    With shock and surprise many physicians learned in the 1980s that they must change the way they do business. Competition for patients, increasing government regulation, and the rapidly escalating risk of litigation forces physicians to seek modern remedies in office management. The author describes a medical clinic that strives to be paperless using electronic innovation to solve the problems of medical practice management. A computer software program to automate information management in a clinic shows that practical thinking linked to advanced technology can greatly improve office efficiency.

  9. [Automated anesthesia record system].

    Science.gov (United States)

    Zhu, Tao; Liu, Jin

    2005-12-01

    Based on Client/Server architecture, a software of automated anesthesia record system running under Windows operation system and networks has been developed and programmed with Microsoft Visual C++ 6.0, Visual Basic 6.0 and SQL Server. The system can deal with patient's information throughout the anesthesia. It can collect and integrate the data from several kinds of medical equipment such as monitor, infusion pump and anesthesia machine automatically and real-time. After that, the system presents the anesthesia sheets automatically. The record system makes the anesthesia record more accurate and integral and can raise the anesthesiologist's working efficiency.

  10. Prognostic power of abnormal cytogenetics for multiple myeloma:a multicenter study in China

    Institute of Scientific and Technical Information of China (English)

    LAI Yue-yun; FU Wei-ling; GUO Hai-ying; HOU Ming; HOU Jian; HU Yu; HU Xiao-tong; HU Xiao-mei; HUANG Li-qiang; JIN Jie; LI Jian-yong; HUANG Xiao-jun; LI Juan; Li Wei; LIANG Ying-min; LIU Ting; LIU Qi-fa; LIU Yan-hui; MAO Ping; OUYANG Jian; QIU Lu-gui; QIU Lin; CAI Zhen; SHAO Chun-kui; SHI Bin; SONG Yong-ping; SUN Zi-min; WANG Qi-shan; WANG Chun; WANG Jian-ming; WANG Yun-shan; WANG Zhao; WU Jian-bo; CAO Xiang-shan; WU Yin-xia; XIA Rui-xiang; XUE Yong-quan; YANG Bao-zhen; YANG Guang; YANG Zheng-lin; YU Li; YUAN Zhong; ZHANG Sheng; ZHANG Yin; CHEN Fang-ping; ZHAO Hong-guo; ZHAO Li; ZHOU Dao-bin; ZOU Shan-hua; ZHU Yun-feng; CHEN Xie-qun; CHEN Bao-an; FANG Mei-yun; FENG Jia-fu

    2012-01-01

    Background Chromosomal abnormalities have been shown to play an important prognostic role in multiple myeloma (MM).tnterphase fluorescence in situ hybridization (i-FISH) has been much more effective to identify cytogenetic aberrations in MM than conventional cytogenetic technique (CC).To clearly determine the cytogenetic features of Chinese MM patients and identify their prognostic implications,we designed a multicenter study based on i-FISH including 672 patients from 52 hospitals in China.Methods All 672 patients were systematically screened for the following genomic aberrations:del(13q).lgHrearrangement,del(p53) and 1q21 amplifications.Results The analysis showed that the chromosomal changes were detected in 22.1% patients by CC and in 82.3%patients by i-FISH.The most common abnormalities by CC were chromosome 1 aberrations (48.4%),-13/13q- (37.6%),hyperdiploidy (36.6%),hypodiploidy (30.1%) and lgH rearrangements (23.7%).The most frequent abnormalities by FISH was del(13q),which was found in 60.4% patients.whereas IgH rearrangement,1q21 amplification and p53 deletions were detected in 57.6%,49.0% and 34.7% cases.respectively.By statistical analysis.-13/13q- by CC was associated with low level of platelet (P=0.015).hyperdiploidy was associated with low level of serum albumin (P=0.028),and lgH rearrangement by FISH was associated with high level of β32 microglobulin (P=0.019).Moreover,1q21 amplification and del(p53) by FlSH conferred a high incidence of progressive disease (PD) after initial therapy.Metaphase detection of lgH rearrangements and chromosome 1 aberrations concurrently was associated with a short progression free survival (PFS)(P=0.036).No significant prognostic implications of other cytogenetic abnormalities were found associated with overall survival and PFS.Conclusions Chinese MM patients had similar cytogenetic abnormalities compared with the previous reported studies.However,the prognostic significance of FISH aberrations

  11. 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, Ydic = 0.0003 (±0.0003) +0.0336 (±0.0115) × D + 0.0236 (±0.0054) × D2. 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. PMID:28217280

  12. Automating quantum experiment control

    Science.gov (United States)

    Stevens, Kelly E.; Amini, Jason M.; Doret, S. Charles; Mohler, Greg; Volin, Curtis; Harter, Alexa W.

    2017-03-01

    The field of quantum information processing is rapidly advancing. As the control of quantum systems approaches the level needed for useful computation, the physical hardware underlying the quantum systems is becoming increasingly complex. It is already becoming impractical to manually code control for the larger hardware implementations. In this chapter, we will employ an approach to the problem of system control that parallels compiler design for a classical computer. We will start with a candidate quantum computing technology, the surface electrode ion trap, and build a system instruction language which can be generated from a simple machine-independent programming language via compilation. We incorporate compile time generation of ion routing that separates the algorithm description from the physical geometry of the hardware. Extending this approach to automatic routing at run time allows for automated initialization of qubit number and placement and additionally allows for automated recovery after catastrophic events such as qubit loss. To show that these systems can handle real hardware, we present a simple demonstration system that routes two ions around a multi-zone ion trap and handles ion loss and ion placement. While we will mainly use examples from transport-based ion trap quantum computing, many of the issues and solutions are applicable to other architectures.

  13. Automated Postediting of Documents

    CERN Document Server

    Knight, K; Knight, Kevin; Chander, Ishwar

    1994-01-01

    Large amounts of low- to medium-quality English texts are now being produced by machine translation (MT) systems, optical character readers (OCR), and non-native speakers of English. Most of this text must be postedited by hand before it sees the light of day. Improving text quality is tedious work, but its automation has not received much research attention. Anyone who has postedited a technical report or thesis written by a non-native speaker of English knows the potential of an automated postediting system. For the case of MT-generated text, we argue for the construction of postediting modules that are portable across MT systems, as an alternative to hardcoding improvements inside any one system. As an example, we have built a complete self-contained postediting module for the task of article selection (a, an, the) for English noun phrases. This is a notoriously difficult problem for Japanese-English MT. Our system contains over 200,000 rules derived automatically from online text resources. We report on l...

  14. Automated Test Case Generation

    CERN Document Server

    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...

  15. Maneuver Automation Software

    Science.gov (United States)

    Uffelman, Hal; Goodson, Troy; Pellegrin, Michael; Stavert, Lynn; Burk, Thomas; Beach, David; Signorelli, Joel; Jones, Jeremy; Hahn, Yungsun; Attiyah, Ahlam; Illsley, Jeannette

    2009-01-01

    The Maneuver Automation Software (MAS) automates the process of generating commands for maneuvers to keep the spacecraft of the Cassini-Huygens mission on a predetermined prime mission trajectory. Before MAS became available, a team of approximately 10 members had to work about two weeks to design, test, and implement each maneuver in a process that involved running many maneuver-related application programs and then serially handing off data products to other parts of the team. MAS enables a three-member team to design, test, and implement a maneuver in about one-half hour after Navigation has process-tracking data. MAS accepts more than 60 parameters and 22 files as input directly from users. MAS consists of Practical Extraction and Reporting Language (PERL) scripts that link, sequence, and execute the maneuver- related application programs: "Pushing a single button" on a graphical user interface causes MAS to run navigation programs that design a maneuver; programs that create sequences of commands to execute the maneuver on the spacecraft; and a program that generates predictions about maneuver performance and generates reports and other files that enable users to quickly review and verify the maneuver design. MAS can also generate presentation materials, initiate electronic command request forms, and archive all data products for future reference.

  16. Automated digital magnetofluidics

    Energy Technology Data Exchange (ETDEWEB)

    Schneider, J; Garcia, A A; Marquez, M [Harrington Department of Bioengineering Arizona State University, Tempe AZ 85287-9709 (United States)], E-mail: tony.garcia@asu.edu

    2008-08-15

    Drops can be moved in complex patterns on superhydrophobic surfaces using a reconfigured computer-controlled x-y metrology stage with a high degree of accuracy, flexibility, and reconfigurability. The stage employs a DMC-4030 controller which has a RISC-based, clock multiplying processor with DSP functions, accepting encoder inputs up to 22 MHz, provides servo update rates as high as 32 kHz, and processes commands at rates as fast as 40 milliseconds. A 6.35 mm diameter cylindrical NdFeB magnet is translated by the stage causing water drops to move by the action of induced magnetization of coated iron microspheres that remain in the drop and are attracted to the rare earth magnet through digital magnetofluidics. Water drops are easily moved in complex patterns in automated digital magnetofluidics at an average speed of 2.8 cm/s over a superhydrophobic polyethylene surface created by solvent casting. With additional components, some potential uses for this automated microfluidic system include characterization of superhydrophobic surfaces, water quality analysis, and medical diagnostics.

  17. Get smart! automate your house!

    NARCIS (Netherlands)

    Van Amstel, P.; Gorter, N.; De Rouw, J.

    2016-01-01

    This "designers' manual" is made during the TIDO-course AR0531 Innovation and Sustainability This manual will help you in reducing both energy usage and costs by automating your home. It gives an introduction to a number of home automation systems that every homeowner can install.

  18. Opening up Library Automation Software

    Science.gov (United States)

    Breeding, Marshall

    2009-01-01

    Throughout the history of library automation, the author has seen a steady advancement toward more open systems. In the early days of library automation, when proprietary systems dominated, the need for standards was paramount since other means of inter-operability and data exchange weren't possible. Today's focus on Application Programming…

  19. Classification of Automated Search Traffic

    Science.gov (United States)

    Buehrer, Greg; Stokes, Jack W.; Chellapilla, Kumar; Platt, John C.

    As web search providers seek to improve both relevance and response times, they are challenged by the ever-increasing tax of automated search query traffic. Third party systems interact with search engines for a variety of reasons, such as monitoring a web site’s rank, augmenting online games, or possibly to maliciously alter click-through rates. In this paper, we investigate automated traffic (sometimes referred to as bot traffic) in the query stream of a large search engine provider. We define automated traffic as any search query not generated by a human in real time. We first provide examples of different categories of query logs generated by automated means. We then develop many different features that distinguish between queries generated by people searching for information, and those generated by automated processes. We categorize these features into two classes, either an interpretation of the physical model of human interactions, or as behavioral patterns of automated interactions. Using the these detection features, we next classify the query stream using multiple binary classifiers. In addition, a multiclass classifier is then developed to identify subclasses of both normal and automated traffic. An active learning algorithm is used to suggest which user sessions to label to improve the accuracy of the multiclass classifier, while also seeking to discover new classes of automated traffic. Performance analysis are then provided. Finally, the multiclass classifier is used to predict the subclass distribution for the search query stream.

  20. Translation: Aids, Robots, and Automation.

    Science.gov (United States)

    Andreyewsky, Alexander

    1981-01-01

    Examines electronic aids to translation both as ways to automate it and as an approach to solve problems resulting from shortage of qualified translators. Describes the limitations of robotic MT (Machine Translation) systems, viewing MAT (Machine-Aided Translation) as the only practical solution and the best vehicle for further automation. (MES)

  1. Automated Methods Of Corrosion Measurements

    DEFF Research Database (Denmark)

    Bech-Nielsen, Gregers; Andersen, Jens Enevold Thaulov; Reeve, John Ch

    1997-01-01

    The chapter describes the following automated measurements: Corrosion Measurements by Titration, Imaging Corrosion by Scanning Probe Microscopy, Critical Pitting Temperature and Application of the Electrochemical Hydrogen Permeation Cell.......The chapter describes the following automated measurements: Corrosion Measurements by Titration, Imaging Corrosion by Scanning Probe Microscopy, Critical Pitting Temperature and Application of the Electrochemical Hydrogen Permeation Cell....

  2. 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.

  3. Automated Standard Hazard Tool

    Science.gov (United States)

    Stebler, Shane

    2014-01-01

    The current system used to generate standard hazard reports is considered cumbersome and iterative. This study defines a structure for this system's process in a clear, algorithmic way so that standard hazard reports and basic hazard analysis may be completed using a centralized, web-based computer application. To accomplish this task, a test server is used to host a prototype of the tool during development. The prototype is configured to easily integrate into NASA's current server systems with minimal alteration. Additionally, the tool is easily updated and provides NASA with a system that may grow to accommodate future requirements and possibly, different applications. Results of this project's success are outlined in positive, subjective reviews complete by payload providers and NASA Safety and Mission Assurance personnel. Ideally, this prototype will increase interest in the concept of standard hazard automation and lead to the full-scale production of a user-ready application.

  4. Robust automated knowledge capture.

    Energy Technology Data Exchange (ETDEWEB)

    Stevens-Adams, Susan Marie; Abbott, Robert G.; Forsythe, James Chris; Trumbo, Michael Christopher Stefan; Haass, Michael Joseph; Hendrickson, Stacey M. Langfitt

    2011-10-01

    This report summarizes research conducted through the Sandia National Laboratories Robust Automated Knowledge Capture Laboratory Directed Research and Development project. The objective of this project was to advance scientific understanding of the influence of individual cognitive attributes on decision making. The project has developed a quantitative model known as RumRunner that has proven effective in predicting the propensity of an individual to shift strategies on the basis of task and experience related parameters. Three separate studies are described which have validated the basic RumRunner model. This work provides a basis for better understanding human decision making in high consequent national security applications, and in particular, the individual characteristics that underlie adaptive thinking.

  5. [From automation to robotics].

    Science.gov (United States)

    1985-01-01

    The introduction of automation into the laboratory of biology seems to be unavoidable. But at which cost, if it is necessary to purchase a new machine for every new application? Fortunately the same image processing techniques, belonging to a theoretic framework called Mathematical Morphology, may be used in visual inspection tasks, both in car industry and in the biology lab. Since the market for industrial robotics applications is much higher than the market of biomedical applications, the price of image processing devices drops, and becomes sometimes less than the price of a complete microscope equipment. The power of the image processing methods of Mathematical Morphology will be illustrated by various examples, as automatic silver grain counting in autoradiography, determination of HLA genotype, electrophoretic gels analysis, automatic screening of cervical smears... Thus several heterogeneous applications may share the same image processing device, provided there is a separate and devoted work station for each of them.

  6. Automated electronic filter design

    CERN Document Server

    Banerjee, Amal

    2017-01-01

    This book describes a novel, efficient and powerful scheme for designing and evaluating the performance characteristics of any electronic filter designed with predefined specifications. The author explains techniques that enable readers to eliminate complicated manual, and thus error-prone and time-consuming, steps of traditional design techniques. The presentation includes demonstration of efficient automation, using an ANSI C language program, which accepts any filter design specification (e.g. Chebyschev low-pass filter, cut-off frequency, pass-band ripple etc.) as input and generates as output a SPICE(Simulation Program with Integrated Circuit Emphasis) format netlist. Readers then can use this netlist to run simulations with any version of the popular SPICE simulator, increasing accuracy of the final results, without violating any of the key principles of the traditional design scheme.

  7. Automated Essay Scoring

    Directory of Open Access Journals (Sweden)

    Semire DIKLI

    2006-01-01

    Full Text Available Automated Essay Scoring Semire DIKLI Florida State University Tallahassee, FL, USA ABSTRACT The impacts of computers on writing have been widely studied for three decades. Even basic computers functions, i.e. word processing, have been of great assistance to writers in modifying their essays. The research on Automated Essay Scoring (AES has revealed that computers have the capacity to function as a more effective cognitive tool (Attali, 2004. AES is defined as the computer technology that evaluates and scores the written prose (Shermis & Barrera, 2002; Shermis & Burstein, 2003; Shermis, Raymat, & Barrera, 2003. Revision and feedback are essential aspects of the writing process. Students need to receive feedback in order to increase their writing quality. However, responding to student papers can be a burden for teachers. Particularly if they have large number of students and if they assign frequent writing assignments, providing individual feedback to student essays might be quite time consuming. AES systems can be very useful because they can provide the student with a score as well as feedback within seconds (Page, 2003. Four types of AES systems, which are widely used by testing companies, universities, and public schools: Project Essay Grader (PEG, Intelligent Essay Assessor (IEA, E-rater, and IntelliMetric. AES is a developing technology. Many AES systems are used to overcome time, cost, and generalizability issues in writing assessment. The accuracy and reliability of these systems have been proven to be high. The search for excellence in machine scoring of essays is continuing and numerous studies are being conducted to improve the effectiveness of the AES systems.

  8. 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.

  9. Cytogenetic and molecular aberrations of multiple myeloma patients:a single-center study in Singapore

    Institute of Scientific and Technical Information of China (English)

    LIM Alvin Soon Tiong; LIM Tse Hui; SEE Karen Hsu Shien; NG Yit Jun; TAN Yu Min; CHOO Natasha Swee Lian; LIM Sherry Xin Er

    2013-01-01

    Background Much is known about the cytogenetic lesions that characterize multiple myeloma (MM) patients from the USA,Europe,and East Asia.However,little has been published about the disease among Southeast Asians.The aim of this study was to determine the chromosomal abnormalities of MM patients in our Singapore population.Methods Forty-five newly-diagnosed,morphologically confirmed patients comprising 18 males and 27 females,aged 46-84 years (median 65 years) were investigated by karyotyping and fluorescence in situ hybridization (FISH).FISH employing standard panel probes and 1p36/1q21 and 6q21/15q22 probes was performed on diagnostic bone marrow samples.Results Thirty-four cases (75.6%) had karyotypic abnormalities.Including FISH,a total detection rate of 91.1% was attained.Numerical and complex structural aberrations were common to both hyperdiploid and non-hyperdiploid patients.Numerical gains of several recurring chromosomes were frequent among hyperdiploid patients while structural rearrangements of several chromosomes including 8q24.1 and 14q32 characterized non-hyperdiploid patients.With FISH,immunoglobulin heavy chain (IGH) gene rearrangements,especially fibroblast growth factor receptor 3 (FGFR3)/IGH and RB1 deletion/monosomy 13 were the most common abnormalities (43.4%).Amplification 1q21 was 10 times more frequent (42.5%) than del(1p36) and del(6q21).Conclusions We have successfully reported the comprehensive cytogenetic profiling of a cohort of newly-diagnosed myeloma patients in our population.This study indicates that the genetic and cytogenetic abnormalities,and their frequencies,in our study group are generally similar to other populations.

  10. 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.

  11. Clinical characteristics, cytogenetic and molecular findings in patients with disorders of sex development.

    Science.gov (United States)

    Tian, Li; Chen, Ming; Peng, Jian-hong; Zhang, Jian-wu; Li, Li

    2014-02-01

    The clinical characteristics of patients with disorders of sex development (DSD), and the diagnostic values of classic cytogenetic and molecular genetic assays for DSD were investigated. In the enrolled 56 cases, there were 9 cases of 46,XY DSD, 6 cases of Turner syndrome (TS), one case of Super female syndrome, 25 cases of Klinefelter syndrome, 14 cases of 46,XX DSD, and one case of autosomal balanced rearrangements with hypospadias. The diagnosis of sex was made through physical examination, cytogenetic assay, ultrasonography, gonadal biopsy and hormonal analysis. PCR was used to detect SRY, ZFX, ZFY, DYZ3 and DYZ1 loci on Y and X chromosomes respectively. The DSD patients with the same category had similar clinical characteristics. The karyotypes in peripheral blood lymphocytes of all patients were identified. PCR-based analysis showed presence or absence of the X/Y-linked loci in several cases. Of the 9 cases of 46,XY DSD, 6 were positive for SRY, 9 for ZFX/ZFY, 9 for DYZ3 and 8 for DYZ1 loci. Of the 6 cases of TS, only 1 case with the karyotype of 45,X,/46,XX/46,XY was positive for all 5 loci. Of the 25 cases of Klinefelter syndrome, all were positive for all 5 loci. In one case of rare Klinefelter syndrome variants azoospermia factor (AZF) gene detection revealed the loss of the AZFa+AZFb region. In 14 cases of 46,XX DSD, 7 cases were positive for SRY, 14 for ZFX, 7 for ZFY, 7 for ZYZ3, and 5 for DYZ1. PCR can complement and also confirm cytogenetic studies in the diagnosis of sex in cases of DSD.

  12. Evaluation of cell types for assessment of cytogenetic damage in arsenic exposed population

    Directory of Open Access Journals (Sweden)

    Singh Keshav K

    2008-05-01

    Full Text Available Abstract Background Cytogenetic biomarkers are essential for assessing environmental exposure, and reflect adverse human health effects such as cellular damage. Arsenic is a potential clastogen and aneugen. In general, the majority of the studies on clastogenic effects of arsenic are based on frequency of micronuclei (MN study in peripheral lymphocytes, urothelial and oral epithelial cells. To find out the most suitable cell type, here, we compared cytogenetic damage through MN assay in (a various populations exposed to arsenic through drinking water retrieved from literature review, as also (b arsenic-induced Bowen's patients from our own survey. Results For literature review, we have searched the Pubmed database for English language journal articles using the following keywords: "arsenic", "micronuclei", "drinking water", and "human" in various combinations. We have selected 13 studies consistent with our inclusion criteria that measured micronuclei in either one or more of the above-mentioned three cell types, in human samples. Compared to urothelial and buccal mucosa cells, the median effect sizes measured by the difference between people with exposed and unexposed, lymphocyte based MN counts were found to be stronger. This general pattern pooled from 10 studies was consistent with our own set of three earlier studies. MN counts were also found to be stronger for lymphocytes even in arsenic-induced Bowen's patients (cases compared to control individuals having arsenic-induced non-cancerous skin lesions. Conclusion Overall, it can be concluded that MN in lymphocytes may be superior to other epithelial cells for studying arsenic-induced cytogenetic damage.

  13. 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.

  14. 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.

  15. FLT3 and NPM1 mutations in Chinese patients with acute myeloid leukemia and normal cytogenetics.

    Science.gov (United States)

    Wang, Lei; Xu, Wei-lai; Meng, Hai-tao; Qian, Wen-bin; Mai, Wen-yuan; Tong, Hong-yan; Mao, Li-ping; Tong, Yin; Qian, Jie-jing; Lou, Yin-jun; Chen, Zhi-mei; Wang, Yun-gui; Jin, Jie

    2010-10-01

    Mutations of fms-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1) exon 12 genes are the most common abnormalities in adult acute myeloid leukemia (AML) with normal cytogenetics. To assess the prognostic impact of the two gene mutations in Chinese AML patients, we used multiplex polymerase chain reaction (PCR) and capillary electrophoresis to screen 76 AML patients with normal cytogenetics for mutations in FLT3 internal tandem duplication (FLT3/ITD) and exon 12 of the NPM1 gene. FLT3/ITD mutation was detected in 15 (19.7%) of 76 subjects, and NPM1 mutation in 20 (26.3%) subjects. Seven (9.2%) cases were positive for both FLT3/ITD and NPM1 mutations. Significantly more FLT3/ITD aberration was detected in subjects with French-American-British (FAB) M1 (42.8%). NPM1 mutation was frequently detected in subjects with M5 (47.1%) and infrequently in subjects with M2 (11.1%). FLT3 and NPM1 mutations were significantly associated with a higher white blood cell count in peripheral blood and a lower CD34 antigen expression, but not age, sex, or platelet count. Statistical analysis revealed that the FLT3/ITD-positive group had a lower complete remission (CR) rate (53.3% vs. 83.6%). Survival analysis showed that the FLT3/ITD-positive/NPM1 mutation-negative group had worse overall survival (OS) and relapse-free survival (RFS). The FLT3/ITD-positive/NPM1 mutation-positive group showed a trend towards favorable survival compared with the FLT3/ITD-positive/NPM1 mutation-negative group (P=0.069). Our results indicate that the FLT3/ITD mutation might be a prognostic factor for an unfavorable outcome in Chinese AML subjects with normal cytogenetics, while NPM1 mutation may be a favorable prognostic factor for OS and RFS in the presence of FLT3/ITD.

  16. Cytogenetic analysis of the Amazon stingless bee Melipona seminigra merrillae reveals different chromosome number for the genus

    Directory of Open Access Journals (Sweden)

    Izaura Bezerra Francini

    2011-10-01

    Full Text Available Cytogenetic analysis of the Amazon stingless bee Melipona seminigra merrillae, by conventional Giemsa staining and C-banding, revealed a different chromosome number for Melipona: 2n = 22 for females and diploid drones while the haploid drones present n = 11. There is no evidence of B chromosomes. This result contrasts with previous studies, in which the chromosome number of 19 Melipona species was determined as 2n = 18 for females and n = 9 for haploid males. Based on cytogenetic information available for other Melipona species, we propose that M. s. merrillae has a more derived diploid number. This indicates that chromosome number is not a conservative characteristic within the genus as previously thought. Cytogenetic data for stingless bees are scarce, especially in Amazon region. Additional studies will be very important in order to promote Melipona karyoevolution discussion and consequently a taxonomy review.

  17. 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...

  18. Impact of cytogenetics on the outcome of adult acute lymphoblastic leukemia: results of Southwest Oncology Group 9400 study.

    Science.gov (United States)

    Pullarkat, Vinod; Slovak, Marilyn L; Kopecky, Kenneth J; Forman, Stephen J; Appelbaum, Frederick R

    2008-03-01

    We examined the prognostic impact of cytogenetics on the outcome of 200 acute lymphoblastic leukemia (ALL) patients 15 to 65 years of age enrolled in Southwest Oncology Group (SWOG)-9400 study. Evaluable cytogenetics or fluorescence in situ hybridization studies were available in 140 (70%) patients. Four karyotype categories (normal [n = 31, 22%], t(9;22)/BCR/ABL1 [n = 36, 26%], other unfavorable [-7, +8, or 11q23 rearrangement, n = 19, 13%], and miscellaneous [n = 54, 39%]) and the biologically and clinically relevant ALL ploidy subgroups were prospectively defined. Overall survival (OS) decreased significantly with increasing age (P = .009) and varied with karyotype category (P cytogenetics as the most important prognostic factor in adult ALL. This trial was registered at www.ClinicalTrials.gov as #NCT00002665.

  19. Cytogenetics of monosomes in Zea mays. Comprehensive report, October 1, 1970--January 31, 1977

    Energy Technology Data Exchange (ETDEWEB)

    Weber, D. F.

    1976-10-01

    Monosomics (organisms lacking one chromosome) are perhaps the most interesting of the aneuploid types because a chromosome lacks a pairing partner in each meiotic cell and because genes on an entire chromosome are present in the hemizygous condition in each meiotic cell. A recently-discovered system produces a high frequency of monosomics in a Zea mays (maize). With this system, monosomics are available in a diploid organism in relatively large numbers and for most of the chromosomes for the first time. Results are reported from studies on several aspects of the cytogenetics of monosomics.

  20. 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

  1. Cytogenetic and hormonal studies of persons occupationally irradiated with ionizing radiation

    Energy Technology Data Exchange (ETDEWEB)

    Ivanov, B.; Maleeva, A.; Praskova, L.; Mileva, M.; Bulanova, M.

    1979-01-01

    Cytogenetic and hormonal investigations were carried out on 23 subjects working in the sphere of ionizing radiation at medical institutions. Statistically significant differences in number of chromosomal aberrations were found between medical personnel and the general public, and in the group of personnel with more than 10 years of service. Futhermore, among the medical personnel, a statistically significant decrease was found in the level of sex hormones in blood plasma. Plasma cortisol levels were increased in all subjects examined whereas aldosterone levels were normal in subjcts with a length of service to 10 years and were lower in those with a length of service over 10 years.

  2. 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.

  3. A clinical and cytogenetic study of fifteen patients with 45,X/46XY gonadal dysgenesis.

    Science.gov (United States)

    Gantt, P A; Byrd, J R; Greenblatt, R B; McDonough, P G

    1980-09-01

    The cytogenetic and phenotypic findings in 15 patients with 45,X/46,XY mosaicism are described. Six patients presented with delayed sexual development without masculinization. The remaining nine patients had varying degrees of masculinization, ranging from clitoromegaly to hypospadic male phenotypes. Cardiovascular/renal anomalies were detected in 2 of the 15 patients. Gonadoblastomas were present in two patients and did not appear to correlate with the degree of masculinization or percentage of 46,XY cells present. Structural Y chromosome abnormalities were seen in three of the 45,X/46,XY probands. MZ twinning occurred in one of the 45,X/46,XY sibships.

  4. Cytogenetic studies in twelve patients with primary myelofibrosis and myeloid metaplasia.

    Science.gov (United States)

    Smadja, N; Krulik, M; de Gramont, A; Sirinelli, A; Brissaud, P; Dray, C; Audebert, A A; Debray, J

    1987-01-01

    Chromosome studies on bone marrow and/or peripheral blood cells without phytohemagglutinin were performed on 12 patients with primary myelofibrosis with myeloid meta-plasia (PMMM) between 1980 and 1984. Abnormal clones were found in six patients (50%). In five cases the abnormal clone involved the long arm of chromosome #7, two of which also had partial trisomy of chromosome #1 and trisomy of 9. Additional abnormalities involving chromosomes #3, #5, #11, #13, #15, and #21 were each found once. Review of the literature showed few studies on the cytogenetics of PMMM. No specific chromosomal pattern can be established; however, abnormalities described are nonrandom.

  5. Microgranular acute promyelocytic leukemia: a distinct clinical, ultrastructural, and cytogenetic entity

    Energy Technology Data Exchange (ETDEWEB)

    Golomb, H.M.; Rowley, J.D.; Vardiman, J.W.; Testa, J.R.; Butler, A.

    1980-02-01

    Three patients with acute leukemia, disseminated intravaslar coagulation, and a specific acquired chromosome abnormality (t(15;17)) were found by transmission electron microscopy to have the typical distribution of granules seen in promyelocytes. However, the average granule sizes were 120, 170 and 180 nm, respectively, for the three patients, significantly less than the 250-nm resolution of light microscopy. We regard the leukemia in these three patients as comprising a distinct clinical, ultrastructural, and cytogenetic entity that we have chosen to all microgranular acute promyelocytic leukemia.

  6. 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

  7. [Comparative cytogenetic study of the tetraploid Matricaria chamomilla L. and Matricaria inodora L].

    Science.gov (United States)

    Samatadze, T E; Amosova, A V; Mel'nikova, N V; Suslina, S N; Zagumennikova, T N; Zelenin, A V; Bykov, V A; Muravenko, O N

    2014-01-01

    A comparative cytogenetic study of the autotetraploid breed of Matricaria chamomilla L. (M. recutita L.) and Matricaria inodora L. was carried out by DAPI-banding, fluorescent hybridization in situ (FISH) with 26S and 5S rDNA probes, and analysis of meiosis. All chromosomes were identified in both karyotypeson the basis of DAPI-banding images and 26S and 5S rDNA distribution, and species-specific idiograms were composed for both M. chamomilla and M. indora taking into account the polymorphous variants of DAPI-banding images, showing the location of the 26S and 5S rDNA sites.

  8. Morphologic, immunologic, and cytogenetic characteristics of secondary acute unclassifiable leukemia in Hodgkin's disease.

    Science.gov (United States)

    Orazi, A; Cattoretti, G; Sozzi, G; Miozzo, M; Polli, N; Delia, D; Viviani, S; Negretti, E; Della Porta, G; Rilke, F

    1988-08-31

    Blast cells from five cases of secondary unclassifiable leukemia following therapy for Hodgkin's disease were studied by cytochemical, immunological and cytogenetic analyses. Cytochemical and immunological reactivity were in accordance with poorly differentiated, myeloid blasts. The four cases in which karyotype analysis was performed showed specific chromosomal abnormalities. No evidence of multiple lineage involvement was found. Problems in classifying these cases of secondary ANLL were due to the high grade of undifferentiation of the blast cells. Their low cytochemical reactivity with markers of myeloid differentiation was similar to what may be observed in patients with acute undifferentiated leukemia or with chronic myeloid leukemia in blast crisis.

  9. Somatic and germ cell cytogenetic studies and AZF microdeletion screening in infertile men

    Directory of Open Access Journals (Sweden)

    Rita C. V. Carrara

    2004-01-01

    Full Text Available Clinical and cytogenetic studies were performed in 65 infertile individuals, and 56 of them were also screened for microdeletions in Yq11 (AZF region. Relevant environmental etiological factors were identified in 10 cases (15.4%. Sertoli-cell-only syndrome was diagnosed in six patients (9,2%. Karyotype abnormalities were detected in six individuals, and five other patients presented desynapsis of bivalents in meiosis. Three out of the 56 patients studied were carriers of microdeletions in the AZF region, one of them also presenting a chromosomal mosaicism for an extra i(22p.

  10. 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, on ave...... of disease in seemingly balanced chromosome rearrangements that are associated with a disease phenotype. Our region specific FISH probes, which are available to MCN members, can be a powerful tool in clinical cytogenetics and positional cloning.......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...

  11. Building Automation Using Wired Communication.

    Directory of Open Access Journals (Sweden)

    Ms. Supriya Gund*,

    2014-04-01

    Full Text Available In this paper, we present the design and implementation of a building automation system where communication technology LAN has been used. This paper mainly focuses on the controlling of home appliances remotely and providing security when the user is away from the place. This system provides ideal solution to the problems faced by home owners in daily life. This system provides security against intrusion as well as automates various home appliances using LAN. To demonstrate the feasibility and effectiveness of the proposed system, the device such as fire sensor, gas sensor, panic switch, intruder switch along with the smartcard have been developed and evaluated with the building automation system. These techniques are successfully merged in a single building automation system. This system offers a complete, low cost powerful and user friendly way of real-time monitoring and remote control of a building.

  12. Evolution of Home Automation Technology

    Directory of Open Access Journals (Sweden)

    Mohd. Rihan

    2009-01-01

    Full Text Available In modern society home and office automation has becomeincreasingly important, providing ways to interconnectvarious home appliances. This interconnection results infaster transfer of information within home/offices leading tobetter home management and improved user experience.Home Automation, in essence, is a technology thatintegrates various electrical systems of a home to provideenhanced comfort and security. Users are grantedconvenient and complete control over all the electrical homeappliances and they are relieved from the tasks thatpreviously required manual control. This paper tracks thedevelopment of home automation technology over the lasttwo decades. Various home automation technologies havebeen explained briefly, giving a chronological account of theevolution of one of the most talked about technologies ofrecent times.

  13. Home automation with Intel Galileo

    CERN Document Server

    Dundar, Onur

    2015-01-01

    This book is for anyone who wants to learn Intel Galileo for home automation and cross-platform software development. No knowledge of programming with Intel Galileo is assumed, but knowledge of the C programming language is essential.

  14. Automating the Purple Crow Lidar

    Directory of Open Access Journals (Sweden)

    Hicks Shannon

    2016-01-01

    Full Text Available The Purple Crow LiDAR (PCL was built to measure short and long term coupling between the lower, middle, and upper atmosphere. The initial component of my MSc. project is to automate two key elements of the PCL: the rotating liquid mercury mirror and the Zaber alignment mirror. In addition to the automation of the Zaber alignment mirror, it is also necessary to describe the mirror’s movement and positioning errors. Its properties will then be added into the alignment software. Once the alignment software has been completed, we will compare the new alignment method with the previous manual procedure. This is the first among several projects that will culminate in a fully-automated lidar. Eventually, we will be able to work remotely, thereby increasing the amount of data we collect. This paper will describe the motivation for automation, the methods we propose, preliminary results for the Zaber alignment error analysis, and future work.

  15. Network based automation for SMEs

    DEFF Research Database (Denmark)

    Shahabeddini Parizi, Mohammad; Radziwon, Agnieszka

    2017-01-01

    The implementation of appropriate automation concepts which increase productivity in Small and Medium Sized Enterprises (SMEs) requires a lot of effort, due to their limited resources. Therefore, it is strongly recommended for small firms to open up for the external sources of knowledge, which...... automation solutions. The empirical data collection involved application of a combination of comparative case study method with action research elements. This article provides an outlook over the challenges in implementing technological improvements and the way how it could be resolved in collaboration...... with other members of the same regional ecosystem. The findings highlight two main automation related areas where manufacturing SMEs could leverage on external sources on knowledge – these are assistance in defining automation problem as well as appropriate solution and provider selection. Consequently...

  16. National Automated Conformity Inspection Process -

    Data.gov (United States)

    Department of Transportation — The National Automated Conformity Inspection Process (NACIP) Application is intended to expedite the workflow process as it pertains to the FAA Form 81 0-10 Request...

  17. Evolution of Home Automation Technology

    OpenAIRE

    Mohd. Rihan; M. Salim Beg

    2009-01-01

    In modern society home and office automation has becomeincreasingly important, providing ways to interconnectvarious home appliances. This interconnection results infaster transfer of information within home/offices leading tobetter home management and improved user experience.Home Automation, in essence, is a technology thatintegrates various electrical systems of a home to provideenhanced comfort and security. Users are grantedconvenient and complete control over all the electrical homeappl...

  18. Technology modernization assessment flexible automation

    Energy Technology Data Exchange (ETDEWEB)

    Bennett, D.W.; Boyd, D.R.; Hansen, N.H.; Hansen, M.A.; Yount, J.A.

    1990-12-01

    The objectives of this report are: to present technology assessment guidelines to be considered in conjunction with defense regulations before an automation project is developed to give examples showing how assessment guidelines may be applied to a current project to present several potential areas where automation might be applied successfully in the depot system. Depots perform primarily repair and remanufacturing operations, with limited small batch manufacturing runs. While certain activities (such as Management Information Systems and warehousing) are directly applicable to either environment, the majority of applications will require combining existing and emerging technologies in different ways, with the special needs of depot remanufacturing environment. Industry generally enjoys the ability to make revisions to its product lines seasonally, followed by batch runs of thousands or more. Depot batch runs are in the tens, at best the hundreds, of parts with a potential for large variation in product mix; reconfiguration may be required on a week-to-week basis. This need for a higher degree of flexibility suggests a higher level of operator interaction, and, in turn, control systems that go beyond the state of the art for less flexible automation and industry in general. This report investigates the benefits and barriers to automation and concludes that, while significant benefits do exist for automation, depots must be prepared to carefully investigate the technical feasibility of each opportunity and the life-cycle costs associated with implementation. Implementation is suggested in two ways: (1) develop an implementation plan for automation technologies based on results of small demonstration automation projects; (2) use phased implementation for both these and later stage automation projects to allow major technical and administrative risk issues to be addressed. 10 refs., 2 figs., 2 tabs. (JF)

  19. Aprendizaje automático

    OpenAIRE

    Moreno, Antonio

    1994-01-01

    En este libro se introducen los conceptos básicos en una de las ramas más estudiadas actualmente dentro de la inteligencia artificial: el aprendizaje automático. Se estudian temas como el aprendizaje inductivo, el razonamiento analógico, el aprendizaje basado en explicaciones, las redes neuronales, los algoritmos genéticos, el razonamiento basado en casos o las aproximaciones teóricas al aprendizaje automático.

  20. 2015 Chinese Intelligent Automation Conference

    CERN Document Server

    Li, Hongbo

    2015-01-01

    Proceedings of the 2015 Chinese Intelligent Automation Conference presents selected research papers from the CIAC’15, held in Fuzhou, China. The topics include adaptive control, fuzzy control, neural network based control, knowledge based control, hybrid intelligent control, learning control, evolutionary mechanism based control, multi-sensor integration, failure diagnosis, reconfigurable control, etc. Engineers and researchers from academia, industry and the government can gain valuable insights into interdisciplinary solutions in the field of intelligent automation.

  1. Automated Supernova Discovery (Abstract)

    Science.gov (United States)

    Post, R. S.

    2015-12-01

    (Abstract only) We are developing a system of robotic telescopes for automatic recognition of Supernovas as well as other transient events in collaboration with the Puckett Supernova Search Team. At the SAS2014 meeting, the discovery program, SNARE, was first described. Since then, it has been continuously improved to handle searches under a wide variety of atmospheric conditions. Currently, two telescopes are used to build a reference library while searching for PSN with a partial library. Since data is taken every night without clouds, we must deal with varying atmospheric and high background illumination from the moon. Software is configured to identify a PSN, reshoot for verification with options to change the run plan to acquire photometric or spectrographic data. The telescopes are 24-inch CDK24, with Alta U230 cameras, one in CA and one in NM. Images and run plans are sent between sites so the CA telescope can search while photometry is done in NM. Our goal is to find bright PSNs with magnitude 17.5 or less which is the limit of our planned spectroscopy. We present results from our first automated PSN discoveries and plans for PSN data acquisition.

  2. Multifunction automated crawling system

    Science.gov (United States)

    Bar-Cohen, Yoseph (Inventor); Joffe, Benjamin (Inventor); Backes, Paul Gregory (Inventor)

    1999-01-01

    The present invention is an automated crawling robot system including a platform, a first leg assembly, a second leg assembly, first and second rails attached to the platform, and an onboard electronic computer controller. The first leg assembly has an intermittent coupling device and the second leg assembly has an intermittent coupling device for intermittently coupling the respective first and second leg assemblies to a particular object. The first and second leg assemblies are slidably coupled to the rail assembly and are slidably driven by motors to thereby allow linear movement. In addition, the first leg assembly is rotary driven by a rotary motor to thereby provide rotary motion relative to the platform. To effectuate motion, the intermittent coupling devices of the first and second leg assemblies alternately couple the respective first and second leg assemblies to an object. This motion is done while simultaneously moving one of the leg assemblies linearly in the desired direction and preparing the next step. This arrangement allows the crawler of the present invention to traverse an object in a range of motion covering 360 degrees.

  3. Automated ISS Flight Utilities

    Science.gov (United States)

    Offermann, Jan Tuzlic

    2016-01-01

    During my internship at NASA Johnson Space Center, I worked in the Space Radiation Analysis Group (SRAG), where I was tasked with a number of projects focused on the automation of tasks and activities related to the operation of the International Space Station (ISS). As I worked on a number of projects, I have written short sections below to give a description for each, followed by more general remarks on the internship experience. My first project is titled "General Exposure Representation EVADOSE", also known as "GEnEVADOSE". This project involved the design and development of a C++/ ROOT framework focused on radiation exposure for extravehicular activity (EVA) planning for the ISS. The utility helps mission managers plan EVAs by displaying information on the cumulative radiation doses that crew will receive during an EVA as a function of the egress time and duration of the activity. SRAG uses a utility called EVADOSE, employing a model of the space radiation environment in low Earth orbit to predict these doses, as while outside the ISS the astronauts will have less shielding from charged particles such as electrons and protons. However, EVADOSE output is cumbersome to work with, and prior to GEnEVADOSE, querying data and producing graphs of ISS trajectories and cumulative doses versus egress time required manual work in Microsoft Excel. GEnEVADOSE automates all this work, reading in EVADOSE output file(s) along with a plaintext file input by the user providing input parameters. GEnEVADOSE will output a text file containing all the necessary dosimetry for each proposed EVA egress time, for each specified EVADOSE file. It also plots cumulative dose versus egress time and the ISS trajectory, and displays all of this information in an auto-generated presentation made in LaTeX. New features have also been added, such as best-case scenarios (egress times corresponding to the least dose), interpolated curves for trajectories, and the ability to query any time in the

  4. Automated Gas Distribution System

    Science.gov (United States)

    Starke, Allen; Clark, Henry

    2012-10-01

    The cyclotron of Texas A&M University is one of the few and prized cyclotrons in the country. Behind the scenes of the cyclotron is a confusing, and dangerous setup of the ion sources that supplies the cyclotron with particles for acceleration. To use this machine there is a time consuming, and even wasteful step by step process of switching gases, purging, and other important features that must be done manually to keep the system functioning properly, while also trying to maintain the safety of the working environment. Developing a new gas distribution system to the ion source prevents many of the problems generated by the older manually setup process. This developed system can be controlled manually in an easier fashion than before, but like most of the technology and machines in the cyclotron now, is mainly operated based on software programming developed through graphical coding environment Labview. The automated gas distribution system provides multi-ports for a selection of different gases to decrease the amount of gas wasted through switching gases, and a port for the vacuum to decrease the amount of time spent purging the manifold. The Labview software makes the operation of the cyclotron and ion sources easier, and safer for anyone to use.

  5. Genetic circuit design automation.

    Science.gov (United States)

    Nielsen, Alec A K; Der, Bryan S; Shin, Jonghyeon; Vaidyanathan, Prashant; Paralanov, Vanya; Strychalski, Elizabeth A; Ross, David; Densmore, Douglas; Voigt, Christopher A

    2016-04-01

    Computation can be performed in living cells by DNA-encoded circuits that process sensory information and control biological functions. Their construction is time-intensive, requiring manual part assembly and balancing of regulator expression. We describe a design environment, Cello, in which a user writes Verilog code that is automatically transformed into a DNA sequence. Algorithms build a circuit diagram, assign and connect gates, and simulate performance. Reliable circuit design requires the insulation of gates from genetic context, so that they function identically when used in different circuits. We used Cello to design 60 circuits forEscherichia coli(880,000 base pairs of DNA), for which each DNA sequence was built as predicted by the software with no additional tuning. Of these, 45 circuits performed correctly in every output state (up to 10 regulators and 55 parts), and across all circuits 92% of the output states functioned as predicted. Design automation simplifies the incorporation of genetic circuits into biotechnology projects that require decision-making, control, sensing, or spatial organization.

  6. Automated sugar analysis

    Directory of Open Access Journals (Sweden)

    Tadeu Alcides MARQUES

    2016-03-01

    Full Text Available Abstract Sugarcane monosaccharides are reducing sugars, and classical analytical methodologies (Lane-Eynon, Benedict, complexometric-EDTA, Luff-Schoorl, Musson-Walker, Somogyi-Nelson are based on reducing copper ions in alkaline solutions. In Brazil, certain factories use Lane-Eynon, others use the equipment referred to as “REDUTEC”, and additional factories analyze reducing sugars based on a mathematic model. The objective of this paper is to understand the relationship between variations in millivolts, mass and tenors of reducing sugars during the analysis process. Another objective is to generate an automatic model for this process. The work herein uses the equipment referred to as “REDUTEC”, a digital balance, a peristaltic pump, a digital camcorder, math programs and graphics programs. We conclude that the millivolts, mass and tenors of reducing sugars exhibit a good mathematical correlation, and the mathematical model generated was benchmarked to low-concentration reducing sugars (<0.3%. Using the model created herein, reducing sugars analyses can be automated using the new equipment.

  7. Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

    Directory of Open Access Journals (Sweden)

    Manoj Kumar

    2011-01-01

    Full Text Available Treacher Collins syndrome (TCS is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD. The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33 and 3(q23–q25. We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2. This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution.

  8. Comparative Cytogenetics between Two Important Songbird, Models: The Zebra Finch and the Canary

    Science.gov (United States)

    dos Santos, Michelly da Silva; Kretschmer, Rafael; Frankl-Vilches, Carolina; Bakker, Antje; Gahr, Manfred; O´Brien, Patricia C. M.; Ferguson-Smith, Malcolm A.

    2017-01-01

    Songbird species (order Passeriformes, suborder Oscines) are important models in various experimental fields spanning behavioural genomics to neurobiology. Although the genomes of some songbird species were sequenced recently, the chromosomal organization of these species is mostly unknown. Here we focused on the two most studied songbird species in neuroscience, the zebra finch (Taeniopygia guttata) and the canary (Serinus canaria). In order to clarify these issues and also to integrate chromosome data with their assembled genomes, we used classical and molecular cytogenetics in both zebra finch and canary to define their chromosomal homology, localization of heterochromatic blocks and distribution of rDNA clusters. We confirmed the same diploid number (2n = 80) in both species, as previously reported. FISH experiments confirmed the occurrence of multiple paracentric and pericentric inversions previously found in other species of Passeriformes, providing a cytogenetic signature for this order, and corroborating data from in silico analyses. Additionally, compared to other Passeriformes, we detected differences in the zebra finch karyotype concerning the morphology of some chromosomes, in the distribution of 5S rDNA clusters, and an inversion in chromosome 1. PMID:28129381

  9. Cytogenetic Analysis of the Primary Amphidiploid Derived from Interspecific Hybridization in Cucumis and Its Selfed Progenies

    Institute of Scientific and Technical Information of China (English)

    CHEN Jin-feng; QIAN Chun-tao; J E Staub; LUO Xiang-dong; ZHUANG Fei-yun

    2005-01-01

    Studies on the reproduction and cytogenetic characterization of a primary amphidiploid Cucumis species C. hytivus Chen and Kirkbride (2n = 4x = 38) indicated that a more comprehensive cytogenetic analysis of this species and its first selfed progeny would increase its potential utility in cucumber improvement. With tendrils used as source materials for mitotic analysis, chromosome numbers in all selfed progenies were 2n = 38, confirming chromosomal stability in this synthetic amphidiploid species. Detailed meiotic processes were described by comparing the primary and the selfed amphidiploids.Meiotic abnormalities, such as chromosome lagging, unequal separation, chromosome multi-polarization and polyads were observed frequently in all amphidiploid plants except for the selfed no.8, in which meiosis was arrested prior to metaphase I. Generally, the frequency of multivalents was higher and the configurations were more complex in the selfed progenies, demonstrating a more extensive genetic exchange between cucumber and C. hystrix Chakr. Genome separation between cucumber and C. hystrix was observed through prophase ! to anaphase I in both generations of the amphidiploids. Consequently, in addition to n = 19, a new gamete with n = 7 was produced, which was confirmed by the chromosome counts 2n = 14 in the backcrossing progenies from cucumber × amphidiploid mating. Fertility varied among the selfed amphidiploid plants. The selfed plant no. 1 was found to have an improved fertility (e.g., pollen staining ability 40.8% and 25.6 seeds per fruit) and then was used as source germplasm in further introgression and gene exchange experiments.

  10. Clinical, Haematological, Serum Biochemical and Cytogenetic Study in Cows with Primary Ketosis

    Directory of Open Access Journals (Sweden)

    Bülent Elitok, Mustafa Solak1, Mustafa Kabu, Özgül M. Elitok2, Zafer Söylemez1 and Tevhide Fıstık1

    2010-07-01

    Full Text Available Twenty four Anatolian Black cows with primary ketosis (PK and 10 clinically healthy cows (considered as control were used in the study. The clinical, haematological, serum biochemical and cytogenetical parameters of all the animals were measured. Primary clinical signs included diminished appetite, decreased milk production, loss of weight, firm faeces and depression. Although no significant differences were seen with regard to haematological findings between PK and the control groups, significance increases (P<0.05 in aspartate aminotransferase (AST, gamma-glutamyl transpeptidase (GGT and urea concen- trations were observed in PK group compared to the control group. Glucose concentration was significantly low and reversely correlated to ketone bodies in urine in the PK group, but it was within normal limits in the control group. GTL- banded karyotypes of the animals were obtained using the standard karyotype of Bos taurus. Chromosomal complements were 2n = 60 in Anatolian Black cattle of normal and diseased groups. In the light of these molecular cytogenetic data, it was detected that all the autosomal chromosomes were acrocentric and gonosomal chromosomes were submetacentric. The results of the study showed that no morphological differences occurred in chromosomes in cattle suffering from PK.

  11. Cytogenetics and characterization of microsatellite loci for a South American pioneer tree species, Croton floribundus.

    Science.gov (United States)

    Silvestrini, Milene; Pinto-Maglio, Cecília A F; Zucchi, Maria I; dos Santos, Flavio A M

    2013-12-01

    Despite the recent advances in plant population genetic studies, the lack of information regarding pedigree, ploidy level, or mode of inheritance for many polyploids can compromise the analysis of the molecular data produced. The aim of this study was to examine both microsatellite and cytogenetic characteristics of the pioneer tree Croton floribundus Spreng. (Euphorbiaceae) to test for the occurrence of polyploidy in the species and to evaluate its implications for the appropriate use of SSR markers. Seven microsatellite markers were developed and screened for 62 individuals from a semi-deciduous tropical forest in Brazil. Chromosome number, meiotic behavior, and pollen viability were evaluated from male flower buds. All SSR loci were highly polymorphic. The number of bivalents observed in meiosis n = 56 (2n = 8× = 112) and the maximum number of alleles per individual (Ni = 8) demonstrated the occurrence of polyploidy in C. floribundus. The normal meiotic pairing and the high pollen viability suggested that C. floribundus is a regular and stable polyploid, most likely an allopolyploid. The combined SSR and cytogenetic data provided new evidence on the origin and evolution of the species as well as assured the accurate use of SSR loci for population genetic studies of the polyploid pioneer species.

  12. Comparative Cytogenetics between Two Important Songbird, Models: The Zebra Finch and the Canary.

    Science.gov (United States)

    Dos Santos, Michelly da Silva; Kretschmer, Rafael; Frankl-Vilches, Carolina; Bakker, Antje; Gahr, Manfred; O Brien, Patricia C M; Ferguson-Smith, Malcolm A; de Oliveira, Edivaldo H C

    2017-01-01

    Songbird species (order Passeriformes, suborder Oscines) are important models in various experimental fields spanning behavioural genomics to neurobiology. Although the genomes of some songbird species were sequenced recently, the chromosomal organization of these species is mostly unknown. Here we focused on the two most studied songbird species in neuroscience, the zebra finch (Taeniopygia guttata) and the canary (Serinus canaria). In order to clarify these issues and also to integrate chromosome data with their assembled genomes, we used classical and molecular cytogenetics in both zebra finch and canary to define their chromosomal homology, localization of heterochromatic blocks and distribution of rDNA clusters. We confirmed the same diploid number (2n = 80) in both species, as previously reported. FISH experiments confirmed the occurrence of multiple paracentric and pericentric inversions previously found in other species of Passeriformes, providing a cytogenetic signature for this order, and corroborating data from in silico analyses. Additionally, compared to other Passeriformes, we detected differences in the zebra finch karyotype concerning the morphology of some chromosomes, in the distribution of 5S rDNA clusters, and an inversion in chromosome 1.

  13. Neurospora as a model fungus for studies in cytogenetics and sexual biology at Stanford

    Indian Academy of Sciences (India)

    Namboori B Raju

    2009-03-01

    Dodge’s early work (1927–1940) on Neurospora genetics and sexual biology inspired Beadle and Tatum at Stanford to use N. crassa for their landmark discovery that genes specify enzymes. Neurospora has since become a model organism for numerous genetic, cytogenetic, biochemical, molecular and population biology studies. Neurospora is haploid in the vegetative phase with a transient diploid sexual phase. Its meiotic cells (asci) are large, allowing easy examination of dividing nuclei and chromosomes under a light microscope. The haploid meiotic products are themselves the sexual progeny that grow into vegetative cultures, thus avoiding the cumbersome testcrosses and complex dominance–recessive relationships, as in diploid organisms. The Perkins’ laboratory at Stanford (1949–2007) played a pivotal role in advancing our knowledge of Neurospora genetics, sexual biology, cytogenetics and population biology. Since 1974, I have taken advantage of various chromosome-staining methods to examine ascus and ascospore development in wild type and in numerous mutant strains. In addition, I have used GFP-tagged genes to visualize the expression or silencing of unpaired genes in a post-transcriptional gene silencing process (meiotic silencing by unpaired DNA) that operates specifically during meiosis. The genome of N. crassa contains over 10 000 protein-coding genes. Gene knockouts or mutations in specific sequences may now be readily correlated with the observed cytological defects in the sexual stage, thus advancing our molecular understanding of complex processes during ascus and ascospore development.

  14. Cytogenetic analysis in Thoracocharax stellatus (Kner, 1858 (Characiformes, Gasteropelecidae from Paraguay River Basin, Mato Grosso, Brazil

    Directory of Open Access Journals (Sweden)

    Edson Silva

    2012-09-01

    Full Text Available Thoracocharax stellatus (Characiformes, Gasteropelecidae is a small Neotropical species of fish, widely distributed in several rivers of South America. Evidence for karyotype heteromorphysm in populations from different geographical regions has been reported for this species. In this way, populations of T. stellatus from the Paraguay River basin were cytogenetically characterized and the results were compared with other studies performed in the same species but from different basins. The results showed a diploid number of 2n = 54 for T. stellatus, with chromosomes arranged in 6 metacentric (m, 6 submetacentric (sm, 2 subtelocentric (st and 40 acrocentric (a, for both sexes, with a simple Nucleolus Organiser Region (NOR system reported by the techniques of silver nitrate impregnation and fluorescent in situ hybridisation (FISH using 18S rDNA sequences as probe. The distribution of constitutive heterochromatin, observed by the C-band technique and Chromomycin A3 staining showed great similarity among the analyzed populations and consists mainly of discrete blocks in the pericentromeric and telomeric regions of most chromosomes. The presence of female heterogamety was also observed indicating a ZZ/ZW system with W chromosome almost totally heterochromatic. The results also show cytogenetic diversity of the group and are useful to understand the mechanisms of karyotype evolution of the family.

  15. Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18

    Science.gov (United States)

    Zhang, Yanliang; Dai, Yong; Ren, Jinghui; Wang, Linqian

    2010-01-01

    Isodicentric chromosome 18 [idic(18)] is rare structural aberration. We report on a prenatal case described by conventional and molecular cytogenetic analyses. The sonography at 24 weeks of gestation revealed multiple fetal anomalies; radial aplasia and ventricular septal defect were significant features. Routine karyotyping showed a derivative chromosome replacing one normal chromosome 18. The parental karyotypes were normal, indicating that the derivative chromosome was de novo. Array comparative genomic hybridization (array-CGH) revealed 18p11.21→qter duplication and 18p11.21→pter deletion for genomic DNA of the fetus. The breakpoint was located at 18p11.21 (between 12104527 bp and 12145199 bp from the telomere of 18p). Thus, the derivative chromosome was ascertained as idic(18)(qter→p11.21::p11.21→qter). Fluorescent in situ hybridization (FISH) confirmed that the derivative chromosome was idic(18). Our report describes a rare isodicentric chromosome 18 and demonstrates that array-CGH is a useful complementary tool to cytogenetic analysis for reliable identifying derivative chromosome. PMID:20864786

  16. 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.

  17. 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.

  18. 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.

  19. Employment of Oligodeoxynucleotide plus Interleukin-2 Improves Cytogenetic Analysis in Splenic Marginal Zone Lymphoma

    Science.gov (United States)

    Bardi, Antonella; Cavazzini, Francesco; Rigolin, Gian Matteo; Tammiso, Elisa; Volta, Eleonora; Pezzolo, Elisa; Formigaro, Luca; Sofritti, Olga; Daghia, Giulia; Ambrosio, Cristina; Rizzotto, Lara; Abass, Awad E.; D'Auria, Fiorella; Musto, Pellegrino; Cuneo, Antonio

    2011-01-01

    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. PMID:21629757

  20. Determination of genotoxicity of classical swine fever vaccine in vitro by cytogenetic and comet tests.

    Science.gov (United States)

    Genghini, R; Tiranti, I; Bressán, E; Zamorano-Ponce, E; Fernández, J; Dulout, F

    2006-05-01

    Chromosome damage in lymphocyte cultures induced by live virus vaccine against classical swine fever (CSF) has been observed in previous studies. In vivo cytogenetic tests were made with several doses of vaccines used in Argentina to control the disease. These studies have shown that genotoxic effects increased with dose. In the present study, two different in vitro assays were performed by recording the frequency of cells with chromosome alterations and by assessing the ability of the vaccine to damage DNA, using the single cell gel microelectrophoretic assay (comet test). Frequencies of cells with chromosomal alterations increased significantly when compared with controls and were dose (microl/ml) dependent: 0 = 1.23, 5 = 2.29, 10 = 5.42 and 20 = 11.71%. In the comet assay the variables measured, tail length (TL) and tail moment (TM), also increased. For control cultures TL was 2.32 microm, whereas with concentrations of 20 and 100 microl/ml TL were 12.47 and 42.3 microm, respectively. TM of control cultures was 0.18, whereas with vaccine concentrations of 20 and 100 microl/ml TM were 5.52 and 24.52, respectively. Comet frequency distributions differed significantly among treatments. These results agree with previous in vivo observations. Regarding CSF pathogeny, our results support a direct effect of CSF vaccinal virus on lymphocyte DNA. Genotoxicity of CSF vaccine was corroborated in vitro at the cytogenetic and molecular levels.

  1. The cytogenetic theory of the pathogenesis of human adult male germ cell tumors. Review article.

    Science.gov (United States)

    Chaganti, R S; Houldsworth, J

    1998-01-01

    Human male germ cell tumors (GCTs) represent a biological paradox because, in order to develop into a pluripotential tumor, a germ cell destined to a path of limited or no proliferation must acquire the potential for unlimited proliferation. In addition, it must acquire the ability to elicit embryonal differentiation patterns without the reciprocal inputs from fertilization and the imprinting-associated genomic changes which are a part of normal embryonal development. Although much speculated about, the genetic mechanisms underlying these properties of male GCTs remain enigmatic. Recent cytogenetic and molecular genetic analyses of these tumors are providing new insights and new testable hypotheses. Based on our recent work, we propose two such hypotheses. One relates to the mechanism of germ cell transformation and germ cell tumor development. We suggest that the invariable 12p amplification noted as early as in carcinoma in situ/intratubular germ cell neoplasia (CIS/ITGCN) lesions leads to deregulated overexpression of cyclin D2, a cell cycle G1/S checkpoint regulator with oncogeneic potential. Such overexpression reinitiates the cell cycle. We visualize this happening during the pachytene stage of meiosis through aberrant recombinational events which lead to 12p amplification. The other hypothesis relates to the origin of primary extragonadal GCTs. By comparing cytogenetic changes in primary mediastinal versus gonadal lesions, we propose that, in contrast to long-standing speculation that primary extra-gonadal tumors arise from embryonally misplaced primordial germ cells, these lesions arise from migration of transformed gonadal germ cells.

  2. A Rare Cytogenetic Presentation of Acute Myeloid Leukemia (AML-M2

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    Hanumanthappa Vijay Raghavendra

    2012-12-01

    Full Text Available Acute myeloid leukemia (AML with t(8;21(q22;q22 generating the AML1/ETO fusion gene on 8q22 is a distinct type of AML t(8;21 category (WHO/AML-M2 (FAB, generally associated with a favourable prognosis. Variant additional chromosomal abnormalities are frequently reported. We report three adult cases of this category with unusual karyotype. Bone marrow cytogenetics of case no. 1: 45,X,-Y, t(8;21(q13;q22 with a novel breakpoint of chromosome 8 at (q13. Case no. 2: 46,X,t(X;2(q22;q37,t(3;7(q21;q36,t(5;14(p15;q11,del(8(q22 a complex rearrangement without the involvement of chromosome 21. Case no. 3: 49,XX,+5, t(8;21(q22;q22, +16, +der(21t(8;21(q22;q22 with additional der(21. Endometrial in this case which was positive for myeloperoxidase (MPO and CD117 conforming the AML infiltration. All are morphologically AML with t(8;21. Relevant literature in cytogenetic of AML-M2 is reviewed. The molecular mechanism involved in unusual rearrangements and clinical significance of them are subjected for further studies

  3. Pre-pregnancy cytogenetic analysis of general couples in eastern China.

    Science.gov (United States)

    Yang, Yan; Wang, Hexi; Gao, Min; Xu, Shuangshan; Xu, Xiaofen; Cao, Xinyu; Tao, Ying

    2014-11-27

    The aim of this study was to investigate the contribution of chromosomal anomalies and the frequency of particular types of aberrations in general couples preparing for pregnancy and make recommendations for pregnancy on the basis of the medical literature. A total of 6,198 general couples were included in the present study. The karyotypes were generated from the peripheral blood lymphocyte cultures and the cytogenetic analysis was performed using G-banding. In 12,396 cases, chromosomal anomalies were detected in 59 cases (0.48%, 59/12,396). Among of them, the frequency of translocation was 0.35% (n = 43). Sex chromosomal anomalies accounted for 0.07% (n = 9), including Klinefelter syndrome (KS) (n = 4), Turner syndrome (TS) (n = 4), and XYY syndrome (n = 1). The others, including inversions (n = 6) and deletion (n = 1), accounted for 0.06%. Our study indicates that clinically important chromosomal defects are present at a remarkable frequency in the general couples in eastern China, suggesting pre-pregnancy cytogenetic analysis should be routinely performed among general couples in this area so that informed decision can be made, which will help to improve the quality of the pregnancy.

  4. 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.

  5. Astylus variegatus (Coleoptera, Melyridae: Cytogenetic study of a population exposed to agrochemical products

    Directory of Open Access Journals (Sweden)

    Marielle Cristina Schneider

    2007-01-01

    Full Text Available In this work we describe the cytogenetic analyses performed in specimens of Astylus variegatus (Germar, 1824 collected in two localities: one area of natural vegetation and one of agricultural crops, where agrochemical products were used. Astylus variegatus had karyotypes with 2n(male = 16+Xy p and 2n (female = 16+XXp, with exclusively metacentric chromosomes. Pachytene spermatocytes showed synapsed autosomal bivalents and non-associated sex chromosomes. In diplotene, the autosomal bivalents exhibited one or two terminal chiasmata and the Xy p had a typical parachute configuration. In meiotic cells of some specimens, an extra chromosome, interpreted as a B chromosome, was observed. C-banding showed constitutive heterochromatin in the pericentromeric region of all chromosomes, with the exception of the y p. Silver nitrate staining revealed one nucleolus organizer region (NOR on the terminal region of the short arm of the second autosome pair. Silver staining of meiotic cells confirmed the NOR pattern detected in mitotic cells and revealed an argentophilous material on the Xy p. A cytogenetic comparison between the two populations of A. variegatus showed a statistically significant divergence (chi2 = 117.10; df = 1 in the number of aneuploid cells and a higher frequency of B chromosome in the population exposed to agrochemicals.

  6. [Immunophenotypes in 207 pediatric patients with ALL and theirs correlation with cytogenetics and clinical features].

    Science.gov (United States)

    Tong, Hai-Xia; Wang, Qiu-Shi; Lu, Chun-Wei; Wang, Hong; Liu, Zhuo-Gang

    2011-06-01

    The objective of this study was to investigate the immunophenotypic subtype profiles of 207 pediatric patients with acute lymphoblastic leukemia (ALL) and its correlation with cytogenetics and clinical features. 207 children with ALL were immunophenotyped by four color flow cytometry using a panel of monoclonal antibodies. 207 patients were enrolled in this study, out of which 146 cases were subjected to karyotype analysis by R-banding technology. The results showed that 11.6% out of 207 children with ALL were identified as T-ALL, 88.4% as B-ALL. Myeloid antigen (MyAg) expression was documented in 42.5% out of 207 cases analyzed and CD13 was the most commonly expressed MyAg (31.4%). No difference was observed in the expression of MyAg between the groups of patients with T-ALL (41.7%) and B-ALL (42.6%). Abnormal karyotypes were detected in 84 out of 146 (57.5%) children. The clinical and biological characteristics of ALL patients between MyAg(+) and MyAg(-) groups showed that higher percentage of patients with high WBC count (> 50 × 10(9)/L) and higher CD34 positivity were found to be correlated with MyAg(+) ALL. It is concluded that immunophenotype analysis is useful for ALL diagnosis and classification, and the immunophenotypes are in relevance to the abnormal cytogenetic changes as well as clinical features in childhood ALL.

  7. Prognostic value of cytogenetics in adult patients with Philadelphia-negative acute lymphoblastic leukemia.

    Science.gov (United States)

    Gómez-Seguí, Inés; Cervera, Jose; Such, Esperanza; Martínez-Cuadrón, David; Luna, Irene; Ibáñez, Mariam; López-Pavía, María; Gascón, Adriana; Roig, Mónica; Martínez, Jesús; Sanz, Jaime; Montesinos, Pau; Martín-Aragonés, Guillermo; Lorenzo, Ignacio; Senent, Leonor; Barragán, Eva; Cordón, Lourdes; Sempere, Amparo; Sanz, Guillermo F; Sanz, Miguel Angel

    2012-01-01

    The prognostic value of cytogenetics in adult acute lymphoblastic leukemia (ALL) is not as established as in childhood ALL. We have analyzed the outcome and prognostic value of karyotype in 84 adults diagnosed with Philadelphia-negative ALL from a single institution that received induction chemotherapy and had successful karyotype performed. The most frequent finding was normal karyotype in 35 (42%) cases, followed by aneuploidies in 20 cases (24%) and t(4;11)(q21;q23)/MLL/AF4 in 5 (6%), and the remaining 24(27%) cases carried miscellaneous clonal abnormalities. The group of patients with t(4;11)(q21;q23)/MLL/AF4, hypodiploidy and low hyperdiploidy (less than 50 chromosomes) showed a worse outcome than those with normal karyotype and miscellaneous abnormalities in terms of overall survival (OS) (3 years OS; 47% vs. 13%, p = 0.014) and relapse-free survival (RFS) (3 years RFS; 44% vs. 27%, p = 0.005). Other cytogenetic prognostic classifications reported to date were tested in our series, but any was fully reproducible. In conclusion, karyotype is a useful tool for risk assessment in adult ALL. We have confirmed the bad prognosis of t(4;11)(q21;q23)/MLL/AF4 and hypodiploidy. Besides, low hyperdiploidy could also define a high-risk group of patients who might be candidates for more intensive treatment.

  8. A comprehensive cytogenetics tutorial program, encompassing changeable G-band resolutions.

    Science.gov (United States)

    Yang, Xiaoli; Wen, Ding; Wu, Xiang; Zhao, Zhenpeng; Lacny, Jason; Tseng, Charles

    2010-07-01

    Chromosome analysis is a basic science with medical implication. Karyotyping is a procedure to study an individual's chromosome make-up. It is time consuming to train students and clinical technologists to recognize patterns of G-banded chromosomes because of the dynamic nature of G-band resolutions in different metaphase spreads. High resolution G-bands are desirable because they provide detailed information for structural analysis. However, it is challenging to identify chromosomes at higher resolution levels even for many cytogenetics technologists. In response to the need for training students to identify human chromosomes at variable G-band resolutions, we present in this paper an advanced version of virtual reality (VR)-based interactive karyotyping program capable of manipulating G-band resolutions for human cytogenetics education. The program can generate different metaphase spreads ranging from short and well separate chromosomes at low G-band resolutions to long, curved, and overlapped chromosomes at high G-band resolutions. Other features include a scoring system, helping strategies, and the progress reports. The traditional "cut and paste" karyotyping method for chromosome separation is incorporated in the software. This method is compared with the "simple clicking" method which is based on an edge detection technique for outlining each chromosome. The comprehensive program is suitable for in-depth training of advanced students.

  9. 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.

  10. [Advances of study on prognostic factors of molecular biology in acute myeloid leukemia with normal cytogenetics].

    Science.gov (United States)

    Han, Tian-Jie; Xu, Xiao-Ping

    2010-08-01

    Acute myeloid leukemia (AML) is a group of diseases with a conspicuous heterogeneity. Following the development of cytogenetics, multiple reproducible chromosome aberrations have been discovered in AML, many of which not only are diagnostic markers for specific AML subtypes but also significant prognostic factors for determining complete remission (CR), relapse risk, and overall survival (OS). However, with the foundation of available chromosome analysis, a large group of acute myeloid leukemia (AML) patients, 40% to 49% of adults and 25% of children had not been found abnormality of chromosome karyotype under microscope. These so-called cytogenetically normal acute myeloid leukemia (CN-AML) patients have usually been classified in an intermediate-risk prognostic category. Nevertheless, the outcome of the CN-AML patients are varied in clinical studies, likely because there exist diverse gene mutations in these patients according to recent researches. Those mutations at the molecular level, on basis of which AML could be further classified, are significantly associated with CN-AML patients and offer potential targets for specific therapeutic studies. The review focuses on research advances abroad in this field including gene mutations suggesting bad prognosis such as FMS-related tyrosine kinase 3 gene mutation, Baalc gene and ETS-related gene hyperexpression, Wilms' tumor gene mutation and other gene mutations as well as gene mutations suggesting good prognosis such as nucleophosmin gene mutation, mixed lineage leukemia-partial tandem duplication, CCAAT/enhancer-binding protein α gene mutation.

  11. Molecular cytogenetic analysis and genomic organization of major DNA repeats in castor bean (Ricinus communis L.).

    Science.gov (United States)

    Alexandrov, O S; Karlov, G I

    2016-04-01

    This article addresses the bioinformatic, molecular genetic, and cytogenetic study of castor bean (Ricinus communis, 2n = 20), which belongs to the monotypic Ricinus genus within the Euphorbiaceae family. Because castor bean chromosomes are small, karyotypic studies are difficult. However, the use of DNA repeats has yielded new prospects for karyotypic research and genome characterization. In the present study, major DNA repeat sequences were identified, characterized and localized on mitotic metaphase and meiotic pachytene chromosomes. Analyses of the nucleotide composition, curvature models, and FISH localization of the rcsat39 repeat suggest that this repeat plays a key role in building heterochromatic arrays in castor bean. Additionally, the rcsat390 sequences were determined to be chromosome-specific repeats located in the pericentromeric region of mitotic chromosome A (pachytene chromosome 1). The localization of rcsat39, rcsat390, 45S and 5S rDNA genes allowed for the development of cytogenetic landmarks for chromosome identification. General questions linked to heterochromatin formation, DNA repeat distribution, and the evolutionary emergence of the genome are discussed. The article may be of interest to biologists studying small genome organization and short monomer DNA repeats.

  12. Cytogenetics findings at Turner Syndrome and their correlation with clinical findings.

    Science.gov (United States)

    Catović, Amra

    2005-08-01

    Turner Syndrome is a genetic condition in females that results from an abnormal chromosome. One of the X chromosomes is missing or misshapen in the most cells of the body. Three classics clinical symptoms of the syndrome are: incomplete sexual maturation, short stature and pterygium colli. Turner Syndrome is diagnosed by karyotyping. In the retrospective study for a twelve years period (1991-2002) correlation between clinical and cytogenetics findings was established in our Center among 47 examinees from all parts of Federation of Bosnia and Herzegovina, who had suspect clinical diagnosis of Turner Syndrome. The syndrome was demonstrated by cytogenetics examinations in 30(63,8%) examinees and excluded in 17 (36,2%) examinees. The most frequent karyotype is monosomy of X chromosome (45,X) found at 63,3%, than isochromosome of Xq (46,XisoXq) found at 16,7%, mosaic form (46,XX/45,X) and deletion of Xp (46,XdelXp) both at 6,7%, than deletion of Xq (46,XdelXq) and ring of Xp (46,XX/46,XringXp) both at 3,3%. Our results suggest that promptly and exactly diagnosis of Turner syndrome is very important due to introducing growth hormone therapy and estrogen therapy at a very young age.

  13. [Cytogenetic changes of the bone marrow in massive blood loss and their correction with mexidol].

    Science.gov (United States)

    Kozhura, V L; Tlatova, T A; Kondakova, N V; Sakharova, V V; Ripa, N V

    2003-01-01

    The citogenetic lesions were evaluated in the marrow erythroblasts of 45 anesthetized white nonlinear male rats, weight--200-300 g who were subjected to an acute blood loss with a 1-hour arterial hypotension (ABR = 40 mm Hg); the micronucleus tests was made use of. Two stages of the increase of polychromatophilic erythrocytes with micronuclei in the marrow of the animals, who underwent a massive blood loss, were registered: stage 1--an incomplete marrow ischemia with a subsequent arterial hypotension and with a reliably confirmed formation of cytogenetic lesions in the marrow polychromatophilic erythrocytes; stage 2--the reperfusion period contributed to a 1.7-fold increase of polychromatophilic erythrocytes with micronuclei versus the previous stage. Mexidole, when used at 50 mg/kg prior to blood reinfusion, decreased the quantity of polychromatophilic erythrocytes with micronuclei to the basic level, which is indicative of reversibility and instability of cytogenetics impairments in the marrow cells of animals observed in the early post-resuscitation period.

  14. Cytogenetic analysis of Aegilops chromosomes, potentially usable in triticale (X Triticosecale Witt.) breeding.

    Science.gov (United States)

    Kwiatek, M; Wiśniewska, H; Apolinarska, B

    2013-05-01

    Chromosome identification using fluorescence in situ hybridization (FISH) is widely used in cytogenetic research. It is a diagnostic tool helpful in chromosome identification. It can also be used to characterize alien introgressions, when exercised in a combination with genomic in situ hybridization (GISH). This work aims to find chromosome identification of Aegilops species and Aegilops × Secale amphiploids, which can be used in cereal breeding as a source of favourable agronomic traits. Four diploid and two tetraploid Aegilops species and three Aegilops × Secale hybrids were analysed using FISH with pSc119.2, pAs1, 5S rDNA and 25S rDNA clones to differentiate the U-, M-, S(sh)- and D-subgenome chromosomes of Aegilops genus. Additionally, GISH for chromosome categorization was carried out. Differences in the hybridization patterns allowed to identify all U-, M-, S(sh)- and D-subgenome chromosomes. Some differences in localization of the rDNA, pSc119.2 and pAs1 sequences between analogue subgenomes in diploid and tetraploid species and Aegilops × Secale hybrids were detected. The hybridization pattern of the M and S genome was more variable than that of the U and D genome. An importance of the cytogenetic markers in plant breeding and their possible role in chromosome structure, function and evolution is discussed.

  15. Cytogenetic and molecular markers for detecting Aegilops uniaristata chromosomes in a wheat background.

    Science.gov (United States)

    Gong, Wenping; Li, Guangrong; Zhou, Jianping; Li, Genying; Liu, Cheng; Huang, Chengyan; Zhao, Zhendong; Yang, Zujun

    2014-09-01

    Aegilops uniaristata has many agronomically useful traits that can be used for wheat breeding. So far, a Triticum turgidum - Ae. uniaristata amphiploid and one set of Chinese Spring (CS) - Ae. uniaristata addition lines have been produced. To guide Ae. uniaristata chromatin transformation from these lines into cultivated wheat through chromosome engineering, reliable cytogenetic and molecular markers specific for Ae. uniaristata chromosomes need to be developed. Standard C-banding shows that C-bands mainly exist in the centromeric regions of Ae. uniaristata but rarely at the distal ends. Fluorescence in situ hybridization (FISH) using (GAA)8 as a probe showed that the hybridization signal of chromosomes 1N-7N are different, thus (GAA)8 can be used to identify all Ae. uniaristata chromosomes in wheat background simultaneously. Moreover, a total of 42 molecular markers specific for Ae. uniaristata chromosomes were developed by screening expressed sequence tag - sequence tagged site (EST-STS), expressed sequence tag - simple sequence repeat (EST-SSR), and PCR-based landmark unique gene (PLUG) primers. The markers were subsequently localized using the CS - Ae. uniaristata addition lines and different wheat cultivars as controls. The cytogenetic and molecular markers developed herein will be helpful for screening and identifying wheat - Ae. uniaristata progeny.

  16. 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.

  17. Molecular cytogenetic identification of a wheat– Thinopyrum ponticum translocation line resistant to powdery mildew

    Indian Academy of Sciences (India)

    FANG HE; YINGUANG BAO; XIAOLEI QI; YINGXUE MA; XINGFENG LI; HONGGANG WANG

    2017-03-01

    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 and 21 bivalents in the pollen mother cells, therebydemonstrating its cytogenetic stability. Genomic in situ hybridization, probed with the total genomic DNA of Th. ponticum, produced hybridization signals in the distal region of two wheat chromosome arms. After inoculation with the Blumeriagraminis f. sp. tritici (Bgt) isolates, SN0224 exhibited immunity. Segregation in F1s and F2s from the cross SN0224/cv. Huixianhong indicated that SN0224 carries a single dominant gene for powdery mildew (Pm) resistance, which was temporarily designated PmSn0224. Three markers Barc212, Xwmc522 and Xbarc1138 were detected to be linked with PmSn0224. Based on the locations of the markers, PmSn0224 was located on the chromosome 2A. None of the three markers above is linked with the previously reported PM resistance genes on chromosome 2A, and none of the previously reported PM resistance genes on chromosome 2A is related to Th. ponticum. Therefore, PmSn0224 is likely a novel gene putatively from Th. ponticum.

  18. AUTOMATED ANALYSIS OF BREAKERS

    Directory of Open Access Journals (Sweden)

    E. M. Farhadzade

    2014-01-01

    Full Text Available Breakers relate to Electric Power Systems’ equipment, the reliability of which influence, to a great extend, on reliability of Power Plants. In particular, the breakers determine structural reliability of switchgear circuit of Power Stations and network substations. Failure in short-circuit switching off by breaker with further failure of reservation unit or system of long-distance protection lead quite often to system emergency.The problem of breakers’ reliability improvement and the reduction of maintenance expenses is becoming ever more urgent in conditions of systematic increasing of maintenance cost and repair expenses of oil circuit and air-break circuit breakers. The main direction of this problem solution is the improvement of diagnostic control methods and organization of on-condition maintenance. But this demands to use a great amount of statistic information about nameplate data of breakers and their operating conditions, about their failures, testing and repairing, advanced developments (software of computer technologies and specific automated information system (AIS.The new AIS with AISV logo was developed at the department: “Reliability of power equipment” of AzRDSI of Energy. The main features of AISV are:· to provide the security and data base accuracy;· to carry out systematic control of breakers conformity with operating conditions;· to make the estimation of individual  reliability’s value and characteristics of its changing for given combination of characteristics variety;· to provide personnel, who is responsible for technical maintenance of breakers, not only with information but also with methodological support, including recommendations for the given problem solving  and advanced methods for its realization.

  19. Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

    NARCIS (Netherlands)

    Tan-Sindhunata, G; Castedo, S; Leegte, B; Mulder, [No Value; van der Veen, AYV; van der Hout, AHV; van Essen, AJ

    2000-01-01

    A family is described in which a mother and two of her children were mosaic for a small supernumerary ring chromosome. As the origin of the ring chromosome could not be determined by routine cytogenetic studies, fluorescent in situ hybridization was performed, which indicated that the ring chromosom

  20. Integration of the cytogenetic, genetic, and physical maps of the human genome by FISH mapping of CEPH YAC clones

    Energy Technology Data Exchange (ETDEWEB)

    Bray-Ward, P.; Menninger, J.; Lieman, J. [Yale Univ. School of Medicine, New Haven, CT (United States)] [and others

    1996-02-15

    This article discusses the genetic mapping of over 950 yeast artificial chromosome (YAC) clones on human chromosomes. This integration of the cytogenetic, genetic and physical maps of the human genome was accomplished using fluorescence in situ hybridization (FISH) mapping and the CEPH library of YAC clones. 27 refs., 2 figs., 1 tab.

  1. 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...

  2. 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.

  3. Favorable prognostic impact of NPM1 gene mutations in childhood acute myeloid leukemia, with emphasis on cytogenetically normal AML.

    NARCIS (Netherlands)

    Hollink, I.H.; Zwaan, C.M.; Zimmermann, M.; Arentsen-Peters, T.C.; Pieters, R.; Cloos, J.; Kaspers, G.J.L.; Graaf, S.S.N. de; Harbott, J.; Creutzig, U.; Reinhardt, D.; Heuvel-Eibrink, M.M. van den; Thiede, C.

    2009-01-01

    Nucleophosmin (NPM1) mutations occur frequently in adult cytogenetically normal acute myeloid leukemia (CN-AML) and confer favorable outcome. We investigated the frequency and prognostic significance of NPM1 mutations in childhood AML (n=298), specifically focusing on the CN-AML subgroup (n=100). Mu

  4. 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....

  5. 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...

  6. Evaluation of applying γ-H2AX as a radiation biodosimetry with an animal model%γ-H2AX用于辐射生物剂量计研究的动物模型评价

    Institute of Scientific and Technical Information of China (English)

    王晶; 张亚平; 丁德芳; 高赟; 张旭霞; 张俊香; 陈红红

    2015-01-01

    Objective To evaluate the potential feasibility of γ-H2AX foci as a biodosimetry after exposure to ionizing radiation by comparing DNA double-strand break repair kinetics in rat blood lymphocytes with that in human lymphocytes.Methods Peripheral blood lymphocytes separated from Sprague-Dawley(SD) male rats and healthy adults were exposed to γ-rays,and some rats were also subjected to total body irradiation.The inductions of DNA repair-related foci of γ-H2AX,pATM (S1981) and pDNA-PKcs (T2609) were detected with immunofluorescence staining technique at different time points post-irradiation,and the status of their co-localization was analyzed.Results The induction kinetics of γ-H2AX foci in rat lymphocytes was similar to that observed in human lymphocytes.The frequencies of γ-H2AX foci peaked at 30 min after γ-ray irradiation (trst =62.64,th =28.52,P < 0.05),then decreased rapidly after 6 h post-irradiation (trat =45.96,th =14.80,P <0.05),and the residual foci number remained only about 3%-8% of its maximal value at 24 h post-irradiation.At 30 min after γ-ray irradiation,the frequencies of pATM (S1981) and pDNA-PKcs (T2609) foci in rat and human lymphocytes significantly higher than those of nonirradiated control (trat =21.05,25.80,th =11.07,29.52,P < 0.05),and the frequencies of co-localization of pATM (S1981) or pDNA-PKcs (T2609) foci with γ-H2AX foci also markedly increased by 26%-32% in irradiated lymphocytes of rat and human (trat =5.34,9.14,thuman =18.32,51.28,P <0.05).Moreover,γ-H2AX foci incidence in rat lymphocytes in vitro was consistent with that induced by total body irradiation of rat.The number of γ-H2AX foci in irradiated rat lymphocytes increased with irradiation dose in a linear dose-dependent manner,its slope was similar to that of irradiated human lymphocytes reported by other laboratory.Conclusions Rat is a useful animal model to evaluate radiation biodosimetry with γ-H2AX foci in lymphocytes.The co-activation of ATM and

  7. Automation: Decision Aid or Decision Maker?

    Science.gov (United States)

    Skitka, Linda J.

    1998-01-01

    This study clarified that automation bias is something unique to automated decision making contexts, and is not the result of a general tendency toward complacency. By comparing performance on exactly the same events on the same tasks with and without an automated decision aid, we were able to determine that at least the omission error part of automation bias is due to the unique context created by having an automated decision aid, and is not a phenomena that would occur even if people were not in an automated context. However, this study also revealed that having an automated decision aid did lead to modestly improved performance across all non-error events. Participants in the non- automated condition responded with 83.68% accuracy, whereas participants in the automated condition responded with 88.67% accuracy, across all events. Automated decision aids clearly led to better overall performance when they were accurate. People performed almost exactly at the level of reliability as the automation (which across events was 88% reliable). However, also clear, is that the presence of less than 100% accurate automated decision aids creates a context in which new kinds of errors in decision making can occur. Participants in the non-automated condition responded with 97% accuracy on the six "error" events, whereas participants in the automated condition had only a 65% accuracy rate when confronted with those same six events. In short, the presence of an AMA can lead to vigilance decrements that can lead to errors in decision making.

  8. International Conference Automation : Challenges in Automation, Robotics and Measurement Techniques

    CERN Document Server

    Zieliński, Cezary; Kaliczyńska, Małgorzata

    2016-01-01

    This book presents the set of papers accepted for presentation at the International Conference Automation, held in Warsaw, 2-4 March of 2016. It presents the research results presented by top experts in the fields of industrial automation, control, robotics and measurement techniques. Each chapter presents a thorough analysis of a specific technical problem which is usually followed by numerical analysis, simulation, and description of results of implementation of the solution of a real world problem. The presented theoretical results, practical solutions and guidelines will be valuable for both researchers working in the area of engineering sciences and for practitioners solving industrial problems. .

  9. Influence of detection of pretreatment cytogenetic abnormalities on first complete remission and survival in adult acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    Milena Georgieva Velizarova

    2011-09-01

    Full Text Available Objective: Treatment of acute lymphoblastic leukemia (ALL in adults focuses on the initial assessment of the prognostic relevant cytogenetic features as well as a response-guided therapy based on molecular data. We examined the importance of molecular-cytogenetic abnormalities for complete remission (CR rates and the overall survival (OS in adult ALLs.Materials and Methods: Conventional cytogenetics and fluorescence in situ hybridization were performed on bone marrow cells from 33 newly-diagnosed ALL adults. Two karyotype categories [standard- risk group- normal karyotype, hyperdiplody and other structural aberrations, and high-risk group-t(11q23/MLL, t(9;22/bcr-abl, t(1;19, t(8;14, C-MYC and complex karyotype] and the biologically and clinically relevant ALL ploidy subgroups were prospectively defined.Results: Chromosomal abnormalities were found in 52% of the cases with a high rate of poor-risk translocations - t(9;22, t(8q24, t(11q23, t(1;19. The total CR rate was 67% and the median time for achievement 2.33 months. Male sex, an age below 35 years and the absence of high risk translocations might have contributed to the high CR rates. Female patients, hyperdiplody, low white blood cells (WBC, and random cytogenetic aberrations had the longest OS. OS, 3- and 5-years survival periods were significantly shorter for poor-risk than standard risk group (p=.015, p=.001 and p=.005, respectively.Conclusion: This study emphasizes the lack of influence of cytogenetic aberrations on the CR and the time to achieve CR. However, our observations show that these aberrations are an independent prognostic factor in adult ALL - they allow predicting therapy resistance and the OS time after intensetreatment.

  10. Molecular measurement of BCR-ABL transcript variations in chronic myeloid leukemia patients in cytogenetic remission

    Directory of Open Access Journals (Sweden)

    Costa Juliana

    2010-11-01

    Full Text Available Abstract Background The monitoring of BCR-ABL transcript levels by real-time quantitative polymerase chain reaction (RT-qPCR has become important to assess minimal residual disease (MRD and standard of care in the treatment of chronic myeloid leukemia (CML. In this study, we performed a prospective, sequential analysis using RT-qPCR monitoring of BCR-ABL gene rearrangements in blood samples from 91 CML patients in chronic phase (CP who achieved complete cytogenetic remission (CCyR and major molecular remission (MMR throughout imatinib treatment. Methods The absolute level of BCR-ABL transcript from peripheral blood was serially measured every 4 to 12 weeks by RT-qPCR. Only level variations > 0.5%, according to the international scale, was considered positive. Sequential cytogenetic analysis was also performed in bone marrow samples from all patients using standard protocols. Results Based on sequential analysis of BCR-ABL transcripts, the 91 patients were divided into three categories: (A 57 (62.6% had no variation on sequential analysis; (B 30 (32.9% had a single positive variation result obtained in a single sample; and (C 4 (4.39% had variations of BCR-ABL transcripts in at least two consecutive samples. Of the 34 patients who had elevated levels of transcripts (group B and C, 19 (55.8% had a BCR-ABL/BCR ratio, 13 (38.2% patients had a 1% to 10% increase and 2 patients had a >10% increase of RT-qPCR. The last two patients had lost a CCyR, and none of them showed mutations in the ABL gene. Transient cytogenetic alterations in Ph-negative cells were observed in five (5.5% patients, and none of whom lost CCyR. Conclusions Despite an increase levels of BCR-ABL/BCR ratio variations by RT-qPCR, the majority of CML patients with MMR remained in CCyR. Thus, such single variations should neither be considered predictive of subsequent failure and nor an indication for altering imatinib dose or switching to second generation therapy. Changing of

  11. Clinical, hematological, and cytogenetic profile of adult myelodysplastic syndrome in a tertiary care center

    Science.gov (United States)

    Narayanan, Santhosh

    2017-01-01

    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, and the association was statistically significant. Deletion of short arm of fifth chromosome (5q deletion) was

  12. cytogenetic effects in populations of amphibians Rana arvalis living on the radio-contaminated area

    Energy Technology Data Exchange (ETDEWEB)

    Yushkova, E.; Bodnar, I.; Zainullin, V. [Institute of Biology of Komi Scientific Centre of the Ural Branch of the Russian Academy of Sciences (Russian Federation)

    2014-07-01

    The study of the features reactions of the animals a differing complicated individual development (metamorphosis) and living in conditions of radioactive contamination is an important trend in the modern radio-ecology. This information is of interest not only from the point of view of detection the mechanisms of radiobiological effects (hyper-radiosensitivity, hormesis, radio-adaptation, etc.) but also viewpoint of predicting delayed radiation effects that is necessary at account the normalization of technogeneous loading on natural ecosystems. An assessment of the level of cytogenetic damages (single-strand and double-strand DNA breaks) in the blood cells of tadpoles of Rana arvalis living in areas contaminated of wastes radium production (Russia, Komi Republic, Ukhta district) was conducted. Using this biological matter as a bioindicator due to the fact that development amphibian is carried out by metamorphosis and includes larval stage. At this stage post-embryonic development of an individual are the most sensitive to anthropogenic impact. To exclude the effects of other factors (temperature, age-specific peculiarities, overpopulation, etc.) on the formation of DNA damages from the studied reservoirs were taken laying eggs of amphibians (12-15 egg laying from the area) which afterwards are contain in strictly controlled laboratory conditions using water, belt silt, plants of native pond. The reaction of amphibians on the contamination was assessed by the level of DNA damage by method Comet assay was determined. With each egg laying were selected for 7 even-aged individuals. Total for cytogenetic analysis was used 189 individuals. It is shown that in animals that develop on the radio-contaminated area the level of single-strand DNA (alkaline pH version of the Comet assay) was higher than in the control area. According an estimate to the level of double-strand DNA (neutral pH version of the Comet assay) significant differences not was found. The high variability

  13. Cytogenetic, FISH and molecular characterization of 3q27/BCL-6 rearrangements in NHL

    Energy Technology Data Exchange (ETDEWEB)

    Wiodarska, I.; Styl, M.; Mecucci, C. [Univ. of Leuven (Belgium)] [and others

    1994-09-01

    Reciprocal translocations involving the chromosomal region 3q27 and one of the immunoglobulin loci at 14q32, 2p12 or 22q11 have been identified as the third most common type of chromosomal abnormality in Non Hodgkin`s lymphomas (NHLs), in addition to t(14;18) and t(8;14). These abnormalities appeared to be strongly associated with a diffuse, large cell subtype of B-cell NHL. Recently, a t(3;14) and t(3;22) have been cloned and a new transcriptional unit at 3q27, designated BCL-5, BCL-6 or LAZ3, has been identified. The gene appears to encode a new zinc finger protein with the putative function of a transcription factor. Rearrangements of the BCL-6 gene have been detected not only in cases with a typical t(3;14), t(2;3) and t(3;22), but also in a few NHL cases carrying 3q27 translocations not involving Ig genes. We report on nine B-NHL cases with a 3q27/BCL-6 rearrangement demonstrated by cytogenetic, FISH, and Southern analysis. Cytogenetic analysis complemented by FISH studies showed the presence of a classical t(3;14) or a t(3;22) in three cases and a variety of chromosomal aberrations involving the 3q27 locus in the remaining cases. Some of these translocations were not previously identified by conventional banding analysis. In three patients chromosome painting demonstrated involvement of both chromosome at the 3q24 band. We conclude: 3q27/BCL-6 rearrangements seem not to be restricted to diffuse large cell lymphoma. We here documented 3q27/BCL-6 abnormalities in Richter syndrome and follicular lymphomas. The variety of 3q27 aberrations at cytogenetic level suggests that, in addition to immunoglobulin genes, a number of other genes spreading over the human genome may deregulate BCL-6 in lymphomas. Chromosome painting is a powerful tool to demonstrate 3q27 abnormalities, not identified by conventional banding analysis.

  14. Manual versus automated blood sampling

    DEFF Research Database (Denmark)

    Teilmann, A C; Kalliokoski, Otto; Sørensen, Dorte B

    2014-01-01

    Facial vein (cheek blood) and caudal vein (tail blood) phlebotomy are two commonly used techniques for obtaining blood samples from laboratory mice, while automated blood sampling through a permanent catheter is a relatively new technique in mice. The present study compared physiological parameters......, glucocorticoid dynamics as well as the behavior of mice sampled repeatedly for 24 h by cheek blood, tail blood or automated blood sampling from the carotid artery. Mice subjected to cheek blood sampling lost significantly more body weight, had elevated levels of plasma corticosterone, excreted more fecal...... corticosterone metabolites, and expressed more anxious behavior than did the mice of the other groups. Plasma corticosterone levels of mice subjected to tail blood sampling were also elevated, although less significantly. Mice subjected to automated blood sampling were less affected with regard to the parameters...

  15. Automated Approaches to RFI Flagging

    Science.gov (United States)

    Garimella, Karthik; Momjian, Emmanuel

    2017-01-01

    It is known that Radio Frequency Interference (RFI) is a major issue in centimeter wavelength radio astronomy. Radio astronomy software packages include tools to excise RFI; both manual and automated utilizing the visibilities (the uv data). Here we present results on an automated RFI flagging approach that utilizes a uv-grid, which is the intermediate product when converting uv data points to an image. It is a well known fact that any signal that appears widespread in a given domain (e.g., image domain) is compact in the Fourier domain (uv-grid domain), i.e., RFI sources that appear as large scale structures (e.g., stripes) in images can be located and flagged using the uv-grid data set. We developed several automated uv-grid based flagging algorithms to detect and excise RFI. These algorithms will be discussed, and results of applying them to measurement sets will be presented.

  16. Automated power management and control

    Science.gov (United States)

    Dolce, James L.

    1991-01-01

    A comprehensive automation design is being developed for Space Station Freedom's electric power system. A joint effort between NASA's Office of Aeronautics and Exploration Technology and NASA's Office of Space Station Freedom, it strives to increase station productivity by applying expert systems and conventional algorithms to automate power system operation. The initial station operation will use ground-based dispatches to perform the necessary command and control tasks. These tasks constitute planning and decision-making activities that strive to eliminate unplanned outages. We perceive an opportunity to help these dispatchers make fast and consistent on-line decisions by automating three key tasks: failure detection and diagnosis, resource scheduling, and security analysis. Expert systems will be used for the diagnostics and for the security analysis; conventional algorithms will be used for the resource scheduling.

  17. 2013 Chinese Intelligent Automation Conference

    CERN Document Server

    Deng, Zhidong

    2013-01-01

    Proceedings of the 2013 Chinese Intelligent Automation Conference presents selected research papers from the CIAC’13, held in Yangzhou, China. The topics include e.g. adaptive control, fuzzy control, neural network based control, knowledge based control, hybrid intelligent control, learning control, evolutionary mechanism based control, multi-sensor integration, failure diagnosis, and reconfigurable control. Engineers and researchers from academia, industry, and government can gain an inside view of new solutions combining ideas from multiple disciplines in the field of intelligent automation. Zengqi Sun and Zhidong Deng are professors at the Department of Computer Science, Tsinghua University, China.

  18. 2013 Chinese Intelligent Automation Conference

    CERN Document Server

    Deng, Zhidong

    2013-01-01

    Proceedings of the 2013 Chinese Intelligent Automation Conference presents selected research papers from the CIAC’13, held in Yangzhou, China. The topics include e.g. adaptive control, fuzzy control, neural network based control, knowledge based control, hybrid intelligent control, learning control, evolutionary mechanism based control, multi-sensor integration, failure diagnosis, and reconfigurable control. Engineers and researchers from academia, industry, and government can gain an inside view of new solutions combining ideas from multiple disciplines in the field of intelligent automation.   Zengqi Sun and Zhidong Deng are professors at the Department of Computer Science, Tsinghua University, China.

  19. Automated synthesis of sialylated oligosaccharides

    Directory of Open Access Journals (Sweden)

    Davide Esposito

    2012-09-01

    Full Text Available Sialic acid-containing glycans play a major role in cell-surface interactions with external partners such as cells and viruses. Straightforward access to sialosides is required in order to study their biological functions on a molecular level. Here, automated oligosaccharide synthesis was used to facilitate the preparation of this class of biomolecules. Our strategy relies on novel sialyl α-(2→3 and α-(2→6 galactosyl imidates, which, used in combination with the automated platform, provided rapid access to a small library of conjugation-ready sialosides of biological relevance.

  20. Automation, Labor Productivity and Employment

    DEFF Research Database (Denmark)

    Kromann, Lene; Rose Skaksen, Jan; Sørensen, Anders

    CEBR fremlægger nu den første rapport i AIM-projektet. Rapporten viser, at der er gode muligheder for yderligere automation i en stor del af de danske fremstillingsvirksomheder. For i dag er gennemsnitligt kun omkring 30 % af virksomhedernes produktionsprocesser automatiserede. Navnlig procesområ......CEBR fremlægger nu den første rapport i AIM-projektet. Rapporten viser, at der er gode muligheder for yderligere automation i en stor del af de danske fremstillingsvirksomheder. For i dag er gennemsnitligt kun omkring 30 % af virksomhedernes produktionsprocesser automatiserede. Navnlig...