WorldWideScience

Sample records for beryllium disease susceptibility

  1. Chronic Beryllium Disease

    Science.gov (United States)

    ... who are exposed to beryllium will not experience health effects. Studies have shown that on average, 1 – 6 percent of exposed workers develop beryllium sensitization, although the rates can be ...

  2. The nature of beryllium disease

    International Nuclear Information System (INIS)

    Williams, W.J.

    1977-01-01

    The increasing use of beryllium in modern industry poses a continuing health hazard with a real risk of producing incapacitating disease and even death. Beryllium and its salts are very toxic, even in small doses and may produce lesions in any organ. The majority of cases follow inhalation and may cause either acute or chronic lung disease. Acute pulmonary disease is a form of chemical pneumonitis while the chronic disease is characterised by the production of granulomas and fibrosis. The skin may be affected with the finding of dermatitis, acute or chronic ulceration. Other organs commonly involved include the liver and kidneys. The pathology of beryllium disease is not specific and diagnosis depends on satisfying the following criteria - history of exposure, consistent clinical, radiographic and pathological finding, presence of beryllium in tissue/fluid and evidence of hypersensitivity. Recent development of 'in vitro' tests of hypersensitivity may prove of value in both diagnosis and prevention of disease. Beryllium disease responds to steroid therapy but the only sure treatment is avoidance of exposure. (author)

  3. Chronic Beryllium Disease Prevention Program Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, S

    2012-03-29

    This document describes how Lawrence Livermore National Laboratory (LLNL) meets the requirements and management practices of federal regulation 10 CFR 850, 'Chronic Beryllium Disease Prevention Program (CBDPP).' This revision of the LLNL CBDPP incorporates clarification and editorial changes based on lessons learned from employee discussions, observations and reviews of Department of Energy (DOE) Complex and commercial industry beryllium (Be) safety programs. The information is used to strengthen beryllium safety practices at LLNL, particularly in the areas of: (1) Management of small parts and components; and (2) Communication of program status to employees. Future changes to LLNL beryllium activities and on-going operating experience will be incorporated into the program as described in Section S, 'Performance Feedback.'

  4. Exposure and genetics increase risk of beryllium sensitisation and chronic beryllium disease in the nuclear weapons industry.

    Science.gov (United States)

    Van Dyke, Michael V; Martyny, John W; Mroz, Margaret M; Silveira, Lori J; Strand, Matt; Cragle, Donna L; Tankersley, William G; Wells, Susan M; Newman, Lee S; Maier, Lisa A

    2011-11-01

    Beryllium sensitisation (BeS) and chronic beryllium disease (CBD) are caused by exposure to beryllium with susceptibility affected by at least one well-studied genetic host factor, a glutamic acid residue at position 69 (E69) of the HLA-DPβ chain (DPβE69). However, the nature of the relationship between exposure and carriage of the DPβE69 genotype has not been well studied. The goal of this study was to determine the relationship between DPβE69 and exposure in BeS and CBD. Current and former workers (n=181) from a US nuclear weapons production facility, the Y-12 National Security Complex (Oak Ridge, Tennessee, USA), were enrolled in a case-control study including 35 individuals with BeS and 19 with CBD. HLA-DPB1 genotypes were determined by PCR-SSP. Beryllium exposures were assessed through worker interviews and industrial hygiene assessment of work tasks. After removing the confounding effect of potential beryllium exposure at another facility, multivariate models showed a sixfold (OR 6.06, 95% CI 1.96 to 18.7) increased odds for BeS and CBD combined among DPβE69 carriers and a fourfold (OR 3.98, 95% CI 1.43 to 11.0) increased odds for those exposed over an assigned lifetime-weighted average exposure of 0.1 μg/m(3). Those with both risk factors had higher increased odds (OR 24.1, 95% CI 4.77 to 122). DPβE69 carriage and high exposure to beryllium appear to contribute individually to the development of BeS and CBD. Among workers at a beryllium-using facility, the magnitude of risk associated with either elevated beryllium exposure or carriage of DPβE69 alone appears to be similar.

  5. Beryllium

    Science.gov (United States)

    Foley, Nora K.; Jaskula, Brian W.; Piatak, Nadine M.; Schulte, Ruth F.; Schulz, Klaus J.; DeYoung,, John H.; Seal, Robert R.; Bradley, Dwight C.

    2017-12-19

    Beryllium is a mineral commodity that is used in a variety of industries to make products that are essential for the smooth functioning of a modern society. Two minerals, bertrandite (which is supplied domestically) and beryl (which is currently supplied solely by imports), are necessary to ensure a stable supply of high-purity beryllium metal, alloys, and metal-matrix composites and beryllium oxide ceramics. Although bertrandite is the source mineral for more than 90 percent of the beryllium produced globally, industrial beryl is critical for the production of the very high purity beryllium metal needed for some strategic applications. The current sole domestic source of beryllium is bertrandite ore from the Spor Mountain deposit in Utah; beryl is imported mainly from Brazil, China, Madagascar, Mozambique, and Portugal. High-purity beryllium metal is classified as a strategic and critical material by the Strategic Materials Protection Board of the U.S. Department of Defense because it is used in products that are vital to national security. Beryllium is maintained in the U.S. stockpile of strategic materials in the form of hot-pressed beryllium metal powder.Because of its unique chemical properties, beryllium is indispensable for many important industrial products used in the aerospace, computer, defense, medical, nuclear, and telecommunications industries. For example, high-performance alloys of beryllium are used in many specialized, high-technology electronics applications, as they are energy efficient and can be used to fabricate miniaturized components. Beryllium-copper alloys are used as contacts and connectors, switches, relays, and shielding for everything from cell phones to thermostats, and beryllium-nickel alloys excel in producing wear-resistant and shape-retaining high-temperature springs. Beryllium metal composites, which combine the fabrication ability of aluminum with the thermal conductivity and highly elastic modulus of beryllium, are ideal for

  6. Beryllium

    International Nuclear Information System (INIS)

    1988-01-01

    In this data sheet the occurrence, ore processing, chemical and physical properties and the uses of beryllium and its alloys is presented. The hazards involved in the use of beryllium and its compounds in the laboratory are discussed with particular reference to its toxicity, carcinogenicity, handling, storage, disposal, fire prevention and the principal health hazards. Further reading is suggested. (UK)

  7. Beryllium

    International Nuclear Information System (INIS)

    Hansen, N.B.

    1980-01-01

    A method for determination of beryllium in minerals and rocks is described. The method comprises microanalysis and trace analysis. Because of the toxidity of beryllium the method is designed for determination of a hitherto unknown small amount, 1-10 nanogram Be. With the optimal amount for determination, 3 ng Be, the relative error of the method is 10%. The description includes an inventory of chemicals and apparatus, also an example of application of the method on the mineral epididymite. In brief, the sample is melted with sodium carbonate and sodium tetra borate; when required the sample in advance is fumed with hydrogen fluoride and sulphuric acid to evaporate silica. The residuum is dissolved in water and hydrogen chloride, upon which the solution is made to volume. In the Ring oven interfering compounds are masked with EDTA. Beryllium is settled with chrome azurol and ammonia. Beryllium is identified and evaluated in comparison with previously produced standards. (author)

  8. Beryllium

    International Nuclear Information System (INIS)

    Hansen, N.B.

    1979-01-01

    A method for determination of beryllium in minerals and rocks is described. The method comprises microanalysis and trace analysis. Because of the toxidity of beryllium the method is designed for determination of a hitherto unknown small amount, 1-10 nanogram Be. With the optimal amount for determination, 3 ng Be, the relative error of the method is 10%. The description includes an inventory of chemicals and apparatus, also an example of application of the method on the mineral epididymite. In brief, the sample is melted with sodium carbonate and sodium tetra borate; when required the sample in advance is fumed with hydrogen fluoride and sulphuric acid to evaporate silica. The residuum is dissolved in water and hydrogen chloride, upon which the solution is made to volume. In the Ring oven interfering compounds are masked with EDTA. Beryllium is settled with chrome azurol and ammonia. Beryllium is identified and evaluated in comparison with previously produced standards. (author)

  9. Beryllium-stimulated neopterin as a diagnostic adjunct in chronic beryllium disease.

    Science.gov (United States)

    Maier, Lisa A; Kittle, Lori A; Mroz, Margaret M; Newman, Lee S

    2003-06-01

    The diagnosis of chronic beryllium disease (CBD) relies on the beryllium lymphocyte proliferation test (BeLPT) to demonstrate a Be specific immune response. This test has improved early diagnosis, but cannot discriminate beryllium sensitization (BeS) from CBD. We previously found high neopterin levels in CBD patients' serum and questioned whether Be-stimulated neopterin production by peripheral blood cells in vitro might be useful in the diagnosis of CBD. CBD, BeS, Be exposed workers without disease (Be-exp) normal controls and sarcoidosis subjects were enrolled. Peripheral blood mononuclear cells (PBMN) were cultured in the presence and absence of beryllium sulfate. Neopterin levels were determined from cell supernatants by enzyme linked immunosorbent assay (ELISA). Clinical evaluation of CBD subjects included chest radiography, pulmonary function testing, exercise testing, and the BeLPT. CBD patients produced higher levels of neopterin in both unstimulated and Be-stimulated conditions compared to all other subjects (P workplace screening. Copyright 2003 Wiley-Liss, Inc.

  10. Introduction to beryllium: uses, regulatory history, and disease.

    Science.gov (United States)

    Kolanz, M E

    2001-05-01

    Beryllium is an ubiquitous element in the environment, and it has many commercial applications. Because of its strength, electrical and thermal conductivity, corrosion resistance, and nuclear properties, beryllium products are used in the aerospace, automotive, energy, medical, and electronics industries. What eventually came to be known as chronic beryllium disease (CBD) was first identified in the 1940s, when a cluster of cases was observed in workers from the fluorescent light industry. The U.S. Atomic Energy Commission recommended the first 8-hour occupational exposure limit (OEL) for beryllium of 2.0 microg/m3 in 1949, which was later reviewed and accepted by the American Conference of Governmental Industrial Hygienists (ACGIH), the American Industrial Hygiene Association (AIHA), the American National Standards Institute (ANSI), the Occupational Safety and Health Administration (OSHA), and the vast majority of countries and standard-setting bodies worldwide. The 2.0 microg/m3 standard has been in use by the beryllium industry for more than 50 years and has been considered adequate to protect workers against clinical CBD. Recently, improved diagnostic techniques, including immunological testing and safer bronchoscopy, have enhanced our ability to identify subclinical CBD cases that would have formerly remained unidentified. Some recent epidemiological studies have suggested that some workers may develop CBD at exposures less than 2.0 microg/m3. ACGIH is currently reevaluating the adequacy of the current 2.0 microg/m3 guideline, and a plethora of research initiatives are under way to provide a better understanding of the cause of CBD. The research is focusing on the risk factors and exposure metrics that could be associated with CBD, as well as on efforts to better characterize the natural history of CBD. There is growing evidence that particle size and chemical form may be important factors that influence the risk of developing CBD. These research efforts are

  11. Defense programs beryllium good practice guide

    International Nuclear Information System (INIS)

    Herr, M.

    1997-07-01

    Within the DOE, it has recently become apparent that some contractor employees who have worked (or are currently working) with and around beryllium have developed chronic beryllium disease (CBD), an occupational granulomatous lung disorder. Respiratory exposure to aerosolized beryllium, in susceptible individuals, causes an immunological reaction that can result in granulomatous scarring of the lung parenchyma, shortness of breath, cough, fatigue, weight loss, and, ultimately, respiratory failure. Beryllium disease was originally identified in the 1940s, largely in the fluorescent light industry. In 1950, the Atomic Energy Commission (AEC) introduced strict exposure standards that generally curtailed both the acute and chronic forms of the disease. Beginning in 1984, with the identification of a CBD case in a DOE contractor worker, there was increased scrutiny of both industrial hygiene practices and individuals in this workforce. To date, over 100 additional cases of beryllium-specific sensitization and/or CBD have been identified. Thus, a disease previously thought to be largely eliminated by the adoption of permissible exposure standards 45 years ago is still a health risk in certain workforces. This good practice guide forms the basis of an acceptable program for controlling workplace exposure to beryllium. It provides (1) Guidance for minimizing worker exposure to beryllium in Defense Programs facilities during all phases of beryllium-related work, including the decontamination and decommissioning (D ampersand D) of facilities. (2) Recommended controls to be applied to the handling of metallic beryllium and beryllium alloys, beryllium oxide, and other beryllium compounds. (3) Recommendations for medical monitoring and surveillance of workers exposed (or potentially exposed) to beryllium, based on the best current understanding of beryllium disease and medical diagnostic tests available. (4) Site-specific safety procedures for all processes of beryllium that is

  12. 75 FR 80734 - Chronic Beryllium Disease Prevention Program

    Science.gov (United States)

    2010-12-23

    ... are used in nuclear weapons as nuclear reactor moderators or reflectors and as nuclear reactor fuel...), grinding, and machine tooling of parts. Inhalation of beryllium particles may cause chronic beryllium...

  13. Beryllium allergy

    International Nuclear Information System (INIS)

    Schoenherr, S.; Pevny, I.

    1989-12-01

    Beryllium is not only a high potent allergen, but also a fotoallergen and can provoke contact allergic reactions, fotoallergic reactions, granulomatous skin reactions, pulmonary granulomatous diseases and sometimes even systemic diseases. The authors present 9 own cases of a patch test positive beryllium allergy, 7 patients with relevant allergy and 5 patients with an allergic contact stomatitis. (author)

  14. Defense programs beryllium good practice guide

    Energy Technology Data Exchange (ETDEWEB)

    Herr, M.

    1997-07-01

    Within the DOE, it has recently become apparent that some contractor employees who have worked (or are currently working) with and around beryllium have developed chronic beryllium disease (CBD), an occupational granulomatous lung disorder. Respiratory exposure to aerosolized beryllium, in susceptible individuals, causes an immunological reaction that can result in granulomatous scarring of the lung parenchyma, shortness of breath, cough, fatigue, weight loss, and, ultimately, respiratory failure. Beryllium disease was originally identified in the 1940s, largely in the fluorescent light industry. In 1950, the Atomic Energy Commission (AEC) introduced strict exposure standards that generally curtailed both the acute and chronic forms of the disease. Beginning in 1984, with the identification of a CBD case in a DOE contractor worker, there was increased scrutiny of both industrial hygiene practices and individuals in this workforce. To date, over 100 additional cases of beryllium-specific sensitization and/or CBD have been identified. Thus, a disease previously thought to be largely eliminated by the adoption of permissible exposure standards 45 years ago is still a health risk in certain workforces. This good practice guide forms the basis of an acceptable program for controlling workplace exposure to beryllium. It provides (1) Guidance for minimizing worker exposure to beryllium in Defense Programs facilities during all phases of beryllium-related work, including the decontamination and decommissioning (D&D) of facilities. (2) Recommended controls to be applied to the handling of metallic beryllium and beryllium alloys, beryllium oxide, and other beryllium compounds. (3) Recommendations for medical monitoring and surveillance of workers exposed (or potentially exposed) to beryllium, based on the best current understanding of beryllium disease and medical diagnostic tests available. (4) Site-specific safety procedures for all processes of beryllium that is likely to

  15. Short- and long-term response to corticosteroid therapy in chronic beryllium disease.

    Science.gov (United States)

    Marchand-Adam, S; El Khatib, A; Guillon, F; Brauner, M W; Lamberto, C; Lepage, V; Naccache, J-M; Valeyre, D

    2008-09-01

    Chronic beryllium disease (CBD) is a granulomatous disorder that affects the lung after exposure to beryllium. The present study reports short- and long-term evolution of granulomatous and fibrotic components in eight patients with severe CBD receiving corticosteroid therapy. Eight patients with confirmed CBD were studied at baseline, after initial corticosteroid treatment (4-12 months), at relapse and at the final visit. Beryllium exposure, Glu(69) (HLA-DPB1 genes coding for glutamate at position beta69) polymorphism, symptoms, pulmonary function tests (PFT), serum angiotensin-converting enzyme (SACE) and high-resolution computed tomography (HRCT) quantification of pulmonary lesions were analysed. The CBD patients were observed for a median (range) of 69 (20-180) months. After stopping beryllium exposure, corticosteroids improved symptoms and PFT (vital capacity +26%, diffusing capacity of the lung for carbon monoxide +15%), and decreased SACE level and active lesion HRCT score. In total, 18 clinical relapses occurred after the treatment was tapered and these were associated with SACE and active lesion HRCT score impairment. At the final visit, corticosteroids had completely stabilised all parameters including both HRCT scores of active lesions and fibrotic lesions in six out of eight patients. Corticosteroids were beneficial in chronic beryllium disease. They were effective in suppressing granulomatosis lesions in all cases and in stopping the evolution to pulmonary fibrosis in six out of eight patients.

  16. A role for cell adhesion in beryllium-mediated lung disease

    Energy Technology Data Exchange (ETDEWEB)

    Hong-geller, Elizabeth [Los Alamos National Laboratory

    2008-01-01

    Chronic beryllium disease (CBD) is a debilitating lung disorder in which exposure to the lightweight metal beryllium (Be) causes the accumulation of beryllium-specific CD4+ T cells in the lung and formation of noncaseating pulmonary granulomas. Treatment for CBD patients who exhibit progressive pulmonary decline is limited to systemic corticosteroids, which suppress the severe host inflammatory response. Studies in the past several years have begun to highlight cell-cell adhesion interactions in the development of Be hypersensitivity and CBD. In particular, the high binding affinity between intercellular adhesion molecule 1 (I-CAM1) on lung epithelial cells and the {beta}{sub 2} integrin LFA-1 on migrating lymphocytes and macrophages regulates the concerted rolling of immune cells to sites of inflammation in the lung. In this review, we discuss the evidence that implicates cell adhesion processes in onset of Be disease and the potential of cell adhesion as an intervention point for development of novel therapies.

  17. India, Genomic diversity & Disease susceptibility

    Indian Academy of Sciences (India)

    Table of contents. India, Genomic diversity & Disease susceptibility · India, a paradise for Genetic Studies · Involved in earlier stages of Immune response protecting us from Diseases, Responsible for kidney and other transplant rejections Inherited from our parents · PowerPoint Presentation · Slide 5 · Slide 6 · Slide 7.

  18. Genetic susceptibility to Grave's disease.

    Science.gov (United States)

    Li, Hong; Chen, Qiuying

    2013-06-01

    The variety of clinical presentations of eye changes in patients with Graves' disease (GD) suggests that complex interactions between genetic, environmental, endogenous and local factors influence the severity of Graves' ophthalmopathy (GO). It is thought that the development of GO might be influenced by genetic factors and environmental factors, such as cigarette smoking. At present, however, the role of genetic factors in the development of GO is not known. On the basis of studies with candidate genes and other genetic approaches, several susceptibility loci in GO have been proposed, including immunological genes, human leukocyte antigen (HLA), cytotoxic T-lymphocyte antigen-4 (CTLA-4), regulatory T-cell genes and thyroid-specific genes. This review gives a brief overview of the current range of major susceptibility genes found for GD.

  19. Low Prevalence of Chronic Beryllium Disease Among Workers at aNuclearWeaponsResearchandDevelopmentFacility

    Science.gov (United States)

    Arjomandi, Mehrdad; Seward, James; Gotway, Michael B.; Nishimura, Stephen; Fulton, George P.; Thundiyil, Josef; King, Talmadge E.; Harber, Philip; Balmes, John R.

    2012-01-01

    Objective To study the prevalence of beryllium sensitization (BeS) and chronic beryllium disease (CBD) in a cohort of workers from a nuclear weapons research and development facility. Methods We evaluated 50 workers with BeS with medical and occupational histories, physical examination, chest imaging with high-resolution computed tomography (N = 49), and pulmonary function testing. Forty of these workers also underwent bronchoscopy for bronchoalveolar lavage and transbronchial biopsies. Results The mean duration of employment at the facility was 18 years and the mean latency (from first possible exposure) to time of evaluation was 32 years. Five of the workers had CBD at the time of evaluation (based on histology or high-resolution computed tomography); three others had evidence of probable CBD. Conclusions These workers with BeS, characterized by a long duration of potential Be exposure and a long latency, had a low prevalence of CBD. PMID:20523233

  20. Low Prevalence of Chronic Beryllium Disease among Workers at a Nuclear Weapons Research and Development Facility

    Energy Technology Data Exchange (ETDEWEB)

    Arjomandi, M; Seward, J P; Gotway, M B; Nishimura, S; Fulton, G P; Thundiyil, J; King, T E; Harber, P; Balmes, J R

    2010-01-11

    To study the prevalence of beryllium sensitization (BeS) and chronic beryllium disease (CBD) in a cohort of workers from a nuclear weapons research and development facility. We evaluated 50 workers with BeS with medical and occupational histories, physical examination, chest imaging with HRCT (N=49), and pulmonary function testing. Forty of these workers also underwent bronchoscopy for bronchoalveolar lavage (BAL) and transbronchial biopsies. The mean duration of employment at the facility was 18 yrs and the mean latency (from first possible exposure) to time of evaluation was 32 yrs. Five of the workers had CBD at the time of evaluation (based on histology or HRCT); three others had evidence of probable CBD. These workers with BeS, characterized by a long duration of potential Be exposure and a long latency, had a low prevalence of CBD.

  1. Technical Basis for PNNL Beryllium Inventory

    Energy Technology Data Exchange (ETDEWEB)

    Johnson, Michelle Lynn

    2014-07-09

    The Department of Energy (DOE) issued Title 10 of the Code of Federal Regulations Part 850, “Chronic Beryllium Disease Prevention Program” (the Beryllium Rule) in 1999 and required full compliance by no later than January 7, 2002. The Beryllium Rule requires the development of a baseline beryllium inventory of the locations of beryllium operations and other locations of potential beryllium contamination at DOE facilities. The baseline beryllium inventory is also required to identify workers exposed or potentially exposed to beryllium at those locations. Prior to DOE issuing 10 CFR 850, Pacific Northwest Nuclear Laboratory (PNNL) had documented the beryllium characterization and worker exposure potential for multiple facilities in compliance with DOE’s 1997 Notice 440.1, “Interim Chronic Beryllium Disease.” After DOE’s issuance of 10 CFR 850, PNNL developed an implementation plan to be compliant by 2002. In 2014, an internal self-assessment (ITS #E-00748) of PNNL’s Chronic Beryllium Disease Prevention Program (CBDPP) identified several deficiencies. One deficiency is that the technical basis for establishing the baseline beryllium inventory when the Beryllium Rule was implemented was either not documented or not retrievable. In addition, the beryllium inventory itself had not been adequately documented and maintained since PNNL established its own CBDPP, separate from Hanford Site’s program. This document reconstructs PNNL’s baseline beryllium inventory as it would have existed when it achieved compliance with the Beryllium Rule in 2001 and provides the technical basis for the baseline beryllium inventory.

  2. Statistical methods for the analysis of a screening test for chronic beryllium disease

    Energy Technology Data Exchange (ETDEWEB)

    Frome, E.L.; Neubert, R.L. [Oak Ridge National Lab., TN (United States). Mathematical Sciences Section; Smith, M.H.; Littlefield, L.G.; Colyer, S.P. [Oak Ridge Inst. for Science and Education, TN (United States). Medical Sciences Div.

    1994-10-01

    The lymphocyte proliferation test (LPT) is a noninvasive screening procedure used to identify persons who may have chronic beryllium disease. A practical problem in the analysis of LPT well counts is the occurrence of outlying data values (approximately 7% of the time). A log-linear regression model is used to describe the expected well counts for each set of test conditions. The variance of the well counts is proportional to the square of the expected counts, and two resistant regression methods are used to estimate the parameters of interest. The first approach uses least absolute values (LAV) on the log of the well counts to estimate beryllium stimulation indices (SIs) and the coefficient of variation. The second approach uses a resistant regression version of maximum quasi-likelihood estimation. A major advantage of the resistant regression methods is that it is not necessary to identify and delete outliers. These two new methods for the statistical analysis of the LPT data and the outlier rejection method that is currently being used are applied to 173 LPT assays. The authors strongly recommend the LAV method for routine analysis of the LPT.

  3. Beryllium production using beryllium fluoride

    International Nuclear Information System (INIS)

    Hubler, Carlos Henrique

    1993-01-01

    This work presents the beryllium production by thermal decomposition of the ammonium beryllium fluoride, followed by magnesium reduction, obtained in the small pilot plant of the Brazilian National Nuclear Energy Commission - Nuclear Engineering Institute

  4. The immunotoxicity of beryllium

    International Nuclear Information System (INIS)

    Reeves, A.L.

    1983-01-01

    In the disease berylliosis, granulomatous hypersensitivity is the specific immune response to tissue contact with a poorly soluble particle of beryllium compound, mediated through the accumulation and proliferation of reticuloendothelial cells. A review is given of the work accomplished since the 1950's and particularly since the 1970's to elucidate the nature and consequences of this response to beryllium and its compounds. (U.K.)

  5. Homeostasis, inflammation, and disease susceptibility.

    Science.gov (United States)

    Kotas, Maya E; Medzhitov, Ruslan

    2015-02-26

    While modernization has dramatically increased lifespan, it has also witnessed the increasing prevalence of diseases such as obesity, hypertension, and type 2 diabetes. Such chronic, acquired diseases result when normal physiologic control goes awry and may thus be viewed as failures of homeostasis. However, while nearly every process in human physiology relies on homeostatic mechanisms for stability, only some have demonstrated vulnerability to dysregulation. Additionally, chronic inflammation is a common accomplice of the diseases of homeostasis, yet the basis for this connection is not fully understood. Here we review the design of homeostatic systems and discuss universal features of control circuits that operate at the cellular, tissue, and organismal levels. We suggest a framework for classification of homeostatic signals that is based on different classes of homeostatic variables they report on. Finally, we discuss how adaptability of homeostatic systems with adjustable set points creates vulnerability to dysregulation and disease. This framework highlights the fundamental parallels between homeostatic and inflammatory control mechanisms and provides a new perspective on the physiological origin of inflammation. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Quantitative Susceptibility Mapping in Parkinson's Disease.

    Science.gov (United States)

    Langkammer, Christian; Pirpamer, Lukas; Seiler, Stephan; Deistung, Andreas; Schweser, Ferdinand; Franthal, Sebastian; Homayoon, Nina; Katschnig-Winter, Petra; Koegl-Wallner, Mariella; Pendl, Tamara; Stoegerer, Eva Maria; Wenzel, Karoline; Fazekas, Franz; Ropele, Stefan; Reichenbach, Jürgen Rainer; Schmidt, Reinhold; Schwingenschuh, Petra

    2016-01-01

    Quantitative susceptibility mapping (QSM) and R2* relaxation rate mapping have demonstrated increased iron deposition in the substantia nigra of patients with idiopathic Parkinson's disease (PD). However, the findings in other subcortical deep gray matter nuclei are converse and the sensitivity of QSM and R2* for morphological changes and their relation to clinical measures of disease severity has so far been investigated only sparsely. The local ethics committee approved this study and all subjects gave written informed consent. 66 patients with idiopathic Parkinson's disease and 58 control subjects underwent quantitative MRI at 3T. Susceptibility and R2* maps were reconstructed from a spoiled multi-echo 3D gradient echo sequence. Mean susceptibilities and R2* rates were measured in subcortical deep gray matter nuclei and compared between patients with PD and controls as well as related to clinical variables. Compared to control subjects, patients with PD had increased R2* values in the substantia nigra. QSM also showed higher susceptibilities in patients with PD in substantia nigra, in the nucleus ruber, thalamus, and globus pallidus. Magnetic susceptibility of several of these structures was correlated with the levodopa-equivalent daily dose (LEDD) and clinical markers of motor and non-motor disease severity (total MDS-UPDRS, MDS-UPDRS-I and II). Disease severity as assessed by the Hoehn & Yahr scale was correlated with magnetic susceptibility in the substantia nigra. The established finding of higher R2* rates in the substantia nigra was extended by QSM showing superior sensitivity for PD-related tissue changes in nigrostriatal dopaminergic pathways. QSM additionally reflected the levodopa-dosage and disease severity. These results suggest a more widespread pathologic involvement and QSM as a novel means for its investigation, more sensitive than current MRI techniques.

  7. CISH and susceptibility to infectious diseases.

    Science.gov (United States)

    Khor, Chiea C; Vannberg, Fredrik O; Chapman, Stephen J; Guo, Haiyan; Wong, Sunny H; Walley, Andrew J; Vukcevic, Damjan; Rautanen, Anna; Mills, Tara C; Chang, Kwok-Chiu; Kam, Kai-Man; Crampin, Amelia C; Ngwira, Bagrey; Leung, Chi-Chiu; Tam, Cheuk-Ming; Chan, Chiu-Yeung; Sung, Joseph J Y; Yew, Wing-Wai; Toh, Kai-Yee; Tay, Stacey K H; Kwiatkowski, Dominic; Lienhardt, Christian; Hien, Tran-Tinh; Day, Nicholas P; Peshu, Nobert; Marsh, Kevin; Maitland, Kathryn; Scott, J Anthony; Williams, Thomas N; Berkley, James A; Floyd, Sian; Tang, Nelson L S; Fine, Paul E M; Goh, Denise L M; Hill, Adrian V S

    2010-06-03

    The interleukin-2-mediated immune response is critical for host defense against infectious pathogens. Cytokine-inducible SRC homology 2 (SH2) domain protein (CISH), a suppressor of cytokine signaling, controls interleukin-2 signaling. Using a case-control design, we tested for an association between CISH polymorphisms and susceptibility to major infectious diseases (bacteremia, tuberculosis, and severe malaria) in blood samples from 8402 persons in Gambia, Hong Kong, Kenya, Malawi, and Vietnam. We had previously tested 20 other immune-related genes in one or more of these sample collections. We observed associations between variant alleles of multiple CISH polymorphisms and increased susceptibility to each infectious disease in each of the study populations. When all five single-nucleotide polymorphisms (SNPs) (at positions -639, -292, -163, +1320, and +3415 [all relative to CISH]) within the CISH-associated locus were considered together in a multiple-SNP score, we found an association between CISH genetic variants and susceptibility to bacteremia, malaria, and tuberculosis (P=3.8x10(-11) for all comparisons), with -292 accounting for most of the association signal (P=4.58x10(-7)). Peripheral-blood mononuclear cells obtained from adult subjects carrying the -292 variant, as compared with wild-type cells, showed a muted response to the stimulation of interleukin-2 production--that is, 25 to 40% less CISH expression. Variants of CISH are associated with susceptibility to diseases caused by diverse infectious pathogens, suggesting that negative regulators of cytokine signaling have a role in immunity against various infectious diseases. The overall risk of one of these infectious diseases was increased by at least 18% among persons carrying the variant CISH alleles. 2010 Massachusetts Medical Society

  8. CISH and Susceptibility to Infectious Diseases

    Science.gov (United States)

    Khor, Chiea C.; Vannberg, Fredrik O.; Chapman, Stephen J.; Guo, Haiyan; Wong, Sunny H.; Walley, Andrew J.; Vukcevic, Damjan; Rautanen, Anna; Mills, Tara C.; Chang, Kwok-Chiu; Kam, Kai-Man; Crampin, Amelia C.; Ngwira, Bagrey; Leung, Chi-Chiu; Tam, Cheuk-Ming; Chan, Chiu-Yeung; Sung, Joseph J.Y.; Yew, Wing-Wai; Toh, Kai-Yee; Tay, Stacey K.H.; Kwiatkowski, Dominic; Lienhardt, Christian; Hien, Tran-Tinh; Day, Nicholas P.; Peshu, Nobert; Marsh, Kevin; Maitland, Kathryn; Scott, J. Anthony; Williams, Thomas N.; Berkley, James A.; Floyd, Sian; Tang, Nelson L.S.; Fine, Paul E.M.; Goh, Denise L.M.; Hill, Adrian V.S.

    2013-01-01

    Background The interleukin-2 (IL2)-mediated immune response is critical for host defence against infectious pathogens. CISH, a suppressor of cytokine signalling, controls IL2 signalling. Methods We tested for association between CISH polymorphisms and susceptibility to major infectious diseases (bacteremia, tuberculosis and severe malaria) in 8402 persons from the Gambia, Hong Kong, Kenya, Malawi, and Vietnam using a case-control design. We have previously tested twenty other immune-related genes in one or more of these sample collections. Results We observed associations between variant alleles of multiple CISH polymorphisms and increased susceptibility to each infectious disease in each of the study populations. When all five SNPs (CISH −639, −292, −163, +1320 and +3415) within the CISH-associated locus were considered together in a multi-SNP score, we found substantial support for an effect of CISH genetic variants on susceptibility to bacteremia, malaria, and tuberculosis (overall P=3.8 × 10−11) with CISH −292 being “responsible” for the majority of the association signal (P=4.58×10−7). Peripheral blood mononuclear cells of adult volunteers carrying the CISH −292 variant showed a muted response to IL2 stimulation — in the form of 25-40% less CISH — when compared with “control” cells lacking the −292 variant. Conclusions Variants of CISH are associated with susceptibility to diseases caused by diverse infectious pathogens, suggesting that negative regulators of cytokine signalling may play a major role in immunity against various infectious diseases. The overall risk of having one of these infectious diseases was found to be increased by at least 18 percent in individuals carrying the variant CISH alleles. PMID:20484391

  9. Pregnancy and Susceptibility to Infectious Diseases

    Directory of Open Access Journals (Sweden)

    Elisabeth Sappenfield

    2013-01-01

    Full Text Available To summarize the literature regarding susceptibility of pregnant women to infectious diseases and severity of resulting disease, we conducted a review using a PubMed search and other strategies. Studies were included if they reported information on infection risk or disease outcome in pregnant women. In all, 1454 abstracts were reviewed, and a total of 85 studies were included. Data were extracted regarding number of cases in pregnant women, rates of infection, risk factors for disease severity or complications, and maternal outcomes. The evidence indicates that pregnancy is associated with increased severity of some infectious diseases, such as influenza, malaria, hepatitis E, and herpes simplex virus (HSV infection (risk for dissemination/hepatitis; there is also some evidence for increased severity of measles and smallpox. Disease severity seems higher with advanced pregnancy. Pregnant women may be more susceptible to acquisition of malaria, HIV infection, and listeriosis, although the evidence is limited. These results reinforce the importance of infection prevention as well as of early identification and treatment of suspected influenza, malaria, hepatitis E, and HSV disease during pregnancy.

  10. CISH and Susceptibility to Infectious Diseases

    OpenAIRE

    Khor, CC; Vannberg, FO; Chapman, SJ; Guo, H; Wong, SH; Walley, AJ; Vukcevic, D; Rautanen, A; Mills, TC; Chang, K-C; Kam, K-M; Crampin, AC; Ngwira, B; Leung, C-C; Tam, C-M

    2010-01-01

    BACKGROUND The interleukin-2-mediated immune response is critical for host defense against infectious pathogens. Cytokine-inducible SRC homology 2 (SH2) domain protein (CISH), a suppressor of cytokine signaling, controls interleukin-2 signaling. METHODS Using a case-control design, we tested for an association between CISH polymorphisms and susceptibility to major infectious diseases (bacteremia, tuberculosis, and severe malaria) in blood samples from 8402 persons in Gambia, Hong Kong, Kenya,...

  11. Beryllium poisonings

    International Nuclear Information System (INIS)

    Alibert, S.

    1959-03-01

    This note reports a bibliographical study of beryllium toxicity. Thus, this bibliographical review addresses and outlines aspects and issues like aetiology, cases of acute poisoning (cutaneous manifestations, pulmonary manifestations), chronic poisoning (cutaneous, pulmonary and bone manifestations), excretion and localisation, and prognosis

  12. Endocrine Disrupting Chemicals and Disease Susceptibility

    Science.gov (United States)

    Schug, Thaddeus T.; Janesick, Amanda; Blumberg, Bruce; Heindel, Jerrold J.

    2011-01-01

    Environmental chemicals have significant impacts on biological systems. Chemical exposures during early stages of development can disrupt normal patterns of development and thus dramatically alter disease susceptibility later in life. Endocrine disrupting chemicals (EDCs) interfere with the body's endocrine system and produce adverse developmental, reproductive, neurological, cardiovascular, metabolic and immune effects in humans. A wide range of substances, both natural and man-made, are thought to cause endocrine disruption, including pharmaceuticals, dioxin and dioxin-like compounds, polychlorinated biphenyls, DDT and other pesticides, and components of plastics such as bisphenol A (BPA) and phthalates. EDCs are found in many everyday products– including plastic bottles, metal food cans, detergents, flame retardants, food additives, toys, cosmetics, and pesticides. EDCs interfere with the synthesis, secretion, transport, activity, or elimination of natural hormones. This interference can block or mimic hormone action, causing a wide range of effects. This review focuses on the mechanisms and modes of action by which EDCs alter hormone signaling. It also includes brief overviews of select disease endpoints associated with endocrine disruption. PMID:21899826

  13. Method for welding beryllium

    Science.gov (United States)

    Dixon, R.D.; Smith, F.M.; O`Leary, R.F.

    1997-04-01

    A method is provided for joining beryllium pieces which comprises: depositing aluminum alloy on at least one beryllium surface; contacting that beryllium surface with at least one other beryllium surface; and welding the aluminum alloy coated beryllium surfaces together. The aluminum alloy may be deposited on the beryllium using gas metal arc welding. The aluminum alloy coated beryllium surfaces may be subjected to elevated temperatures and pressures to reduce porosity before welding the pieces together. The aluminum alloy coated beryllium surfaces may be machined into a desired welding joint configuration before welding. The beryllium may be an alloy of beryllium or a beryllium compound. The aluminum alloy may comprise aluminum and silicon. 9 figs.

  14. Method for welding beryllium

    International Nuclear Information System (INIS)

    Dixon, R.D.; Smith, F.M.; O'Leary, R.F.

    1997-01-01

    A method is provided for joining beryllium pieces which comprises: depositing aluminum alloy on at least one beryllium surface; contacting that beryllium surface with at least one other beryllium surface; and welding the aluminum alloy coated beryllium surfaces together. The aluminum alloy may be deposited on the beryllium using gas metal arc welding. The aluminum alloy coated beryllium surfaces may be subjected to elevated temperatures and pressures to reduce porosity before welding the pieces together. The aluminum alloy coated beryllium surfaces may be machined into a desired welding joint configuration before welding. The beryllium may be an alloy of beryllium or a beryllium compound. The aluminum alloy may comprise aluminum and silicon. 9 figs

  15. OVERVIEW OF BERYLLIUM SAMPLING AND ANALYSIS

    Energy Technology Data Exchange (ETDEWEB)

    Brisson, M

    2009-04-01

    Because of its unique properties as a lightweight metal with high tensile strength, beryllium is widely used in applications including cell phones, golf clubs, aerospace, and nuclear weapons. Beryllium is also encountered in industries such as aluminium manufacturing, and in environmental remediation projects. Workplace exposure to beryllium particulates is a growing concern, as exposure to minute quantities of anthropogenic forms of beryllium may lead to sensitization and to chronic beryllium disease, which can be fatal and for which no cure is currently known. Furthermore, there is no known exposure-response relationship with which to establish a 'safe' maximum level of beryllium exposure. As a result, the current trend is toward ever lower occupational exposure limits, which in turn make exposure assessment, both in terms of sampling and analysis, more challenging. The problems are exacerbated by difficulties in sample preparation for refractory forms of beryllium, such as beryllium oxide, and by indications that some beryllium forms may be more toxic than others. This chapter provides an overview of sources and uses of beryllium, health risks, and occupational exposure limits. It also provides a general overview of sampling, analysis, and data evaluation issues that will be explored in greater depth in the remaining chapters. The goal of this book is to provide a comprehensive resource to aid personnel in a wide variety of disciplines in selecting sampling and analysis methods that will facilitate informed decision-making in workplace and environmental settings.

  16. Environmentally induced epigenetic transgenerational inheritance of disease susceptibility.

    Science.gov (United States)

    Nilsson, Eric E; Skinner, Michael K

    2015-01-01

    Environmental insults, such as exposure to toxicants or nutritional abnormalities, can lead to epigenetic changes that are in turn related to increased susceptibility to disease. The focus of this review is on the transgenerational inheritance of such epigenetic abnormalities (epimutations), and how it is that these inherited epigenetic abnormalities can lead to increased disease susceptibility, even in the absence of continued environmental insult. Observations of environmental toxicant specificity and exposure-specific disease susceptibility are discussed. How epimutations are transmitted across generations and how epigenetic changes in the germline are translated into an increased disease susceptibility in the adult is reviewed with regard to disease etiology. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Managing health effects of beryllium exposure

    National Research Council Canada - National Science Library

    Committee on Beryllium Alloy Exposures; Committee on Toxicology; National Research Council; Division on Earth and Life Studies; National Research Council

    2008-01-01

    ... to its occurrence in exposed people. Despite reduced workplace exposure, chronic beryllium disease continues to occur. In addition, beryllium has been classified as a likely human carcinogen by several agencies, such as the International Agency for Research on Cancer, the National Toxicology Program, and the U.S. Environmental Protection Agency. Thos...

  18. Galvanic corrosion of beryllium welds

    International Nuclear Information System (INIS)

    Hill, M.A.; Butt, D.P.; Lillard, R.S.

    1997-01-01

    Beryllium is difficult to weld because it is highly susceptible to cracking. The most commonly used filler metal in beryllium welds is Al-12 wt.% Si. Beryllium has been successfully welded using Al-Si filler metal with more than 30 wt.% Al. This filler creates an aluminum-rich fusion zone with a low melting point that tends to backfill cracks. Drawbacks to adding a filler metal include a reduction in service temperature, a lowering of the tensile strength of the weld, and the possibility for galvanic corrosion to occur at the weld. To evaluate the degree of interaction between Be and Al-Si in an actual weld, sections from a mock beryllium weldment were exposed to 0.1 M Cl - solution. Results indicate that the galvanic couple between Be and the Al-Si weld material results in the cathodic protection of the weld and of the anodic dissolution of the bulk Be material. While the cathodic protection of Al is generally inefficient, the high anodic dissolution rate of the bulk Be during pitting corrosion combined with the insulating properties of the Be oxide afford some protection of the Al-Si weld material. Although dissolution of the Be precipitate in the weld material does occur, no corrosion of the Al-Si matrix was observed

  19. Novel disease susceptibility factors for fungal necrotrophic pathogens in Arabidopsis.

    Science.gov (United States)

    Dobón, Albor; Canet, Juan Vicente; García-Andrade, Javier; Angulo, Carlos; Neumetzler, Lutz; Persson, Staffan; Vera, Pablo

    2015-04-01

    Host cells use an intricate signaling system to respond to invasions by pathogenic microorganisms. Although several signaling components of disease resistance against necrotrophic fungal pathogens have been identified, our understanding for how molecular components and host processes contribute to plant disease susceptibility is rather sparse. Here, we identified four transcription factors (TFs) from Arabidopsis that limit pathogen spread. Arabidopsis mutants defective in any of these TFs displayed increased disease susceptibility to Botrytis cinerea and Plectosphaerella cucumerina, and a general activation of non-immune host processes that contribute to plant disease susceptibility. Transcriptome analyses revealed that the mutants share a common transcriptional signature of 77 up-regulated genes. We characterized several of the up-regulated genes that encode peptides with a secretion signal, which we named PROVIR (for provirulence) factors. Forward and reverse genetic analyses revealed that many of the PROVIRs are important for disease susceptibility of the host to fungal necrotrophs. The TFs and PROVIRs identified in our work thus represent novel genetic determinants for plant disease susceptibility to necrotrophic fungal pathogens.

  20. Novel disease susceptibility factors for fungal necrotrophic pathogens in Arabidopsis.

    Directory of Open Access Journals (Sweden)

    Albor Dobón

    2015-04-01

    Full Text Available Host cells use an intricate signaling system to respond to invasions by pathogenic microorganisms. Although several signaling components of disease resistance against necrotrophic fungal pathogens have been identified, our understanding for how molecular components and host processes contribute to plant disease susceptibility is rather sparse. Here, we identified four transcription factors (TFs from Arabidopsis that limit pathogen spread. Arabidopsis mutants defective in any of these TFs displayed increased disease susceptibility to Botrytis cinerea and Plectosphaerella cucumerina, and a general activation of non-immune host processes that contribute to plant disease susceptibility. Transcriptome analyses revealed that the mutants share a common transcriptional signature of 77 up-regulated genes. We characterized several of the up-regulated genes that encode peptides with a secretion signal, which we named PROVIR (for provirulence factors. Forward and reverse genetic analyses revealed that many of the PROVIRs are important for disease susceptibility of the host to fungal necrotrophs. The TFs and PROVIRs identified in our work thus represent novel genetic determinants for plant disease susceptibility to necrotrophic fungal pathogens.

  1. Susceptibility based upon Chemical Interaction with Disease ...

    Science.gov (United States)

    One of the challenges facing toxicology and risk assessment is that numerous host and environmental factors may modulate vulnerability and risk. An area of increasing interest is the potential for chemicals to interact with background aging and disease processes, an interaction that may yield cumulative damage, altered chemical potency, and increased disease incidence. This review outlines the interactions possible between chemicals and background disease and identifies the type of information needed to evaluate such interactions. Key among these is the existence of a clinically relevant and easy to measure biomarker of disease risk which allows the identification of vulnerable individuals based upon the level of risk biomarker. The impact of toxic chemicals on this biomarker can then be used to predict how the chemical modifies disease risk as long as related mechanistic and toxicological data are consistent with toxicant effect on the disease process. Several case studies are briefly presented which describe the toxic chemical, the clinical biomarker and the impacted disease including: fine particulate matter/decreased heart rate variability/increased cardiopulmonary events; cadmium/decreased glomerular filtration rate/increased chronic kidney disease; methyl mercury/decreased paraoxonase-1/increased cardiovascular risk; trichloroethylene/increased anti-nuclear antibody/autoimmunity; dioxin/increased CYP1A1/hypertension. These case studies point o

  2. Beryllium health effects in the era of the beryllium lymphocyte proliferation test.

    Science.gov (United States)

    Maier, L A

    2001-05-01

    The beryllium lymphocyte proliferation test (BeLPT) has revolutionized our approach to the diagnosis, screening, and surveillance of beryllium health effects. Based on the development of a beryllium-specific cell-mediated immune response, the BeLPT has allowed us to define early health effects of beryllium, including beryllium sensitization (BeS), and chronic beryllium disease (CBD) at a subclinical stage. The use of this test as a screening tool has improved our understanding of these health effects. From a number of studies it is apparent that BeS precedes CBD and develops after as little as 9 weeks of beryllium exposure. CBD occurs within 3 months and up to 30 years after initial beryllium exposure. Exposure-response variables have been associated with BeS/CBD, including work as a machinist, chemical or metallurgical operator, laboratory technician, work in ceramics or beryllium metal production, and years of beryllium exposure. Recent studies have found BeS and CBD in workplaces in which the majority of exposures were below the 2 microg/m3 OSHA time-weighted average (TWA). Ideally, the BeLPT would be used in surveillance aimed at defining other risk-related processes, determining exposure variables which predict BeS and CBD, and defining the exposure level below which beryllium health effects do not occur. Unfortunately, the BeLPT can result in false negative tests and still requires an invasive procedure, a bronchoscopy, for the definitive diagnosis of CBD. Thus, research is needed to establish new tests to be used alone or in conjunction with the BeLPT to improve our ability to detect early beryllium health effects.

  3. Laser fabrication of beryllium components

    International Nuclear Information System (INIS)

    Hanafee, J.E.; Ramos, T.J.

    1995-08-01

    Working with the beryllium industry on commercial applications and using prototype parts, the authors have found that the use of lasers provides a high-speed, low-cost method of cutting beryllium metal, beryllium alloys, and beryllium-beryllium oxide composites. In addition, they have developed laser welding processes for commercial structural grades of beryllium that do not need a filler metal; i.e., autogenous welds were made in commercial structural grades of beryllium by using lasers

  4. Control of beryllium powder at a DOE facility

    International Nuclear Information System (INIS)

    Langner, G.C.; Creek, K.L.; Castro, R.G.

    1997-01-01

    Beryllium is contained in a number of domestic and national defense items. Although many items might contain beryllium in some manner, few people need worry about the adverse effects caused by exposure to beryllium because it is the inhalable form of beryllium that is most toxic. Chronic beryllium disease (CBD), a granulomas and fibrotic lung disease with long latency, can be developed after inhalation exposures to beryllium. It is a progressive, debilitating lung disease. Its occurrence in those exposed to beryllium has been difficult to predict because some people seem to react to low concentration exposures whereas others do not react to high concentration exposures. Onset of the disease frequently occurs between 15 to 20 years after exposure begins. Some people develop the disease after many years of low concentration exposures but others do not develop CBD even though beryllium is shown to be present in lungs and urine. Conclusions based on these experiences are that their is some immunological dependence of developing CBD in about 3--4% of the exposed population, but the exact mechanism involved has not yet been identified. Acute beryllium disease can occur after a single exposure to a concentration of greater than 0.100 mg/m3 (inhalation exposure); it is characterized by the development of chemical pneumoconiosis, a respiratory disease. The acute effect of skin contact is a dermatitis characterized by itching and reddened, elevated, or fluid-accumulated lesions which appear particularly on the exposed surfaces of the body, especially the face, neck, arms, and hands. Small particles of beryllium that enter breaks in the skin can lead to the development of granulomas and/or open sores that do not heal until the beryllium has been removed. Our interest is only airborne beryllium, which is found in areas that machine or produce beryllium

  5. Beryllium chemistry and processing

    CERN Document Server

    Walsh, Kenneth A

    2009-01-01

    This book introduces beryllium; its history, its chemical, mechanical, and physical properties including nuclear properties. The 29 chapters include the mineralogy of beryllium and the preferred global sources of ore bodies. The identification and specifics of the industrial metallurgical processes used to form oxide from the ore and then metal from the oxide are thoroughly described. The special features of beryllium chemistry are introduced, including analytical chemical practices. Beryllium compounds of industrial interest are identified and discussed. Alloying, casting, powder processing, forming, metal removal, joining and other manufacturing processes are covered. The effect of composition and process on the mechanical and physical properties of beryllium alloys assists the reader in material selection. The physical metallurgy chapter brings conformity between chemical and physical metallurgical processing of beryllium, metal, alloys, and compounds. The environmental degradation of beryllium and its all...

  6. Beryllium. Evaluation of beryllium hydroxide industrial processes. Pt. 3

    International Nuclear Information System (INIS)

    Lires, O.A.; Delfino, C.A.; Botbol, J.

    1991-01-01

    This work continues the 'Beryllium' series. It is a historical review of different industrial processes of beryllium hydroxide obtention from beryllium ores. Flowsheats and operative parameters of five plants are provided. These plants (Degussa, Brush Beryllium Co., Beryllium Corp., Murex Ltd., SAPPI) were selected as representative samples of diverse commercial processes in different countries. (Author) [es

  7. Tricking the guard: exploiting plant defense for disease susceptibility.

    Science.gov (United States)

    Lorang, J; Kidarsa, T; Bradford, C S; Gilbert, B; Curtis, M; Tzeng, S-C; Maier, C S; Wolpert, T J

    2012-11-02

    Typically, pathogens deploy virulence effectors to disable defense. Plants defeat effectors with resistance proteins that guard effector targets. We found that a pathogen exploits a resistance protein by activating it to confer susceptibility in Arabidopsis. The guard mechanism of plant defense is recapitulated by interactions among victorin (an effector produced by the necrotrophic fungus Cochliobolus victoriae), TRX-h5 (a defense-associated thioredoxin), and LOV1 (an Arabidopsis susceptibility protein). In LOV1's absence, victorin inhibits TRX-h5, resulting in compromised defense but not disease by C. victoriae. In LOV1's presence, victorin binding to TRX-h5 activates LOV1 and elicits a resistance-like response that confers disease susceptibility. We propose that victorin is, or mimics, a conventional pathogen virulence effector that was defeated by LOV1 and confers virulence to C. victoriae solely because it incites defense.

  8. Modeling elm growth and Dutch elm disease susceptibility

    Science.gov (United States)

    Alberto Santini; Luisa Ghelardini

    2012-01-01

    Elm susceptibility to Dutch elm disease (DED) displays strong seasonal variation. The period during which elms can become infected and express DED symptoms is generally restricted to several weeks after growth resumption in spring, although it can vary among species, provenances, and environmental conditions. The reason for this phenomenon is not understood, but the...

  9. Exploration of genetic susceptibility factors for Parkinson's disease

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 89; Issue 2. Exploration of genetic susceptibility factors for Parkinson's disease in a South American sample. Bruno A. Benitez Diego A. Forero Gonzalo H. Arboleda Luis A. Granados Juan J. Yunis William Fernandez Humberto Arboleda. Research Note Volume 89 Issue 2 ...

  10. (Beryllium). Internal Report No. 137, Jan. 15, 1958; Le beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Mouret, P; Rigaud, A

    1959-07-01

    After a brief summary of the physical and chemical properties of beryllium, the various chemical treatments which can be applied to beryllium minerals either directly or after a physical enrichment are discussed. These various treatments give either the hydroxide or beryllium salts, from which either beryllium oxide or metallic beryllium can easily be obtained. The purification, analysis and uses of beryllium are also briefly discussed. (author)

  11. Characteristics of Japanese inflammatory bowel disease susceptibility loci.

    Science.gov (United States)

    Arimura, Yoshiaki; Isshiki, Hiroyuki; Onodera, Kei; Nagaishi, Kanna; Yamashita, Kentaro; Sonoda, Tomoko; Matsumoto, Takayuki; Takahashi, Atsushi; Takazoe, Masakazu; Yamazaki, Keiko; Kubo, Michiaki; Fujimiya, Mineko; Imai, Kohzoh; Shinomura, Yasuhisa

    2014-08-01

    There are substantial differences in inflammatory bowel disease (IBD) genetics depending on the populations examined. We aimed to identify Japanese population-specific or true culprit susceptibility genes through a meta-analysis of past genetic studies of Japanese IBD. For this study, we reviewed 2,703 articles. The review process consisted of three screening stages: we initially searched for relevant studies and then relevant single nucleotide polymorphisms (SNPs). Finally, we adjusted them for the meta-analysis. To maximize our chances of analysis, we introduced proxy SNPs during the first stage. To minimize publication bias, no significant SNPs and solitary SNPs without pairs were combined to be reconsidered during the third stage. Additionally, two SNPs were newly genotyped. Finally, we conducted a meta-analysis of 37 published studies in 50 SNPs located at 22 loci corresponding to the total number of 4,853 Crohn's disease (CD), 5,612 ulcerative colitis (UC) patients, and 14,239 healthy controls. We confirmed that the NKX2-3 polymorphism is associated with common susceptibility to IBD and that HLA-DRB1*0450 alleles increase susceptibility to CD but reduce risk for UC while HLA-DRB1*1502 alleles increase susceptibility to UC but reduce CD risk. Moreover, we found individual disease risk loci: TNFSF15 and TNFα to CD and HLA-B*5201, and NFKBIL1 to UC. The genetic risk of HLA was substantially high (odds ratios ranged from 1.54 to 2.69) while that of common susceptibility loci to IBD was modest (odds ratio ranged from 1.13 to 1.24). Results indicate that Japanese IBD susceptibility loci identified by the meta-analysis are closely associated with the HLA regions.

  12. Potential exposures and risks from beryllium-containing products.

    Science.gov (United States)

    Willis, Henry H; Florig, H Keith

    2002-10-01

    Beryllium is the strongest of the lightweight metals. Used primarily in military applications prior to the end of the Cold War, beryllium is finding new applications in many commercial products, including computers, telecommunication equipment, and consumer and automotive electronics. The use of beryllium in nondefense consumer applications is of concern because beryllium is toxic. Inhalation of beryllium dust or vapor causes a chronic lung disease in some individuals at concentrations as low as 0.01 microg/m3 in air. As beryllium enters wider commerce, it is prudent to ask what risks this might present to the general public and to workers downstream of the beryllium materials industry. We address this question by evaluating the potential for beryllium exposure from the manufacturing, use, recycle, and disposal of beryllium-containing products. Combining a market study with a qualitative exposure analysis, we determine which beryllium applications and life cycle phases have the largest exposure potential. Our analysis suggests that use and maintenance of the most common types of beryllium-containing products do not result in any obvious exposures of concern, and that maintenance activities result in greater exposures than product use. Product disposal has potential to present significant individual risks, but uncertainties concerning current and future routes of product disposal make it difficult to be definitive. Overall, additional exposure and dose-response data are needed to evaluate both the health significance of many exposure scenarios, and the adequacy of existing regulations to protect workers and the public. Although public exposures to beryllium and public awareness and concern regarding beryllium risks are currently low, beryllium risks have psychometric qualities that may lead to rapidly heightened public concern.

  13. Extractive metallurgy of the beryllium

    International Nuclear Information System (INIS)

    Alonso, Neusa; Capocchi, Jose Deodoro Trani

    1995-01-01

    A bibliographic review is performed on the beryllium extractive metallurgy. The work describes the main type of ores and processes applied to the metallic beryllium production, beryllium oxide production using fluoride, sulfide and direct chlorination. The thermodynamic consideration are made on beryllium reduction processes, discussing the viability of the beryllium oxide and hallide reduction processes. Under the technological viewpoint, the Cu-Be alloys main production processes are discussed, and the main toxicity problems related with beryllium are mentioned

  14. Host susceptibility hypothesis for shell disease in American lobsters.

    Science.gov (United States)

    Tlusty, Michael F; Smolowitz, Roxanna M; Halvorson, Harlyn O; DeVito, Simone E

    2007-12-01

    Epizootic shell disease (ESD) in American lobsters Homarus americanus is the bacterial degradation of the carapace resulting in extensive irregular, deep erosions. The disease is having a major impact on the health and mortality of some American lobster populations, and its effects are being transferred to the economics of the fishery. While the onset and progression of ESD in American lobsters is undoubtedly multifactorial, there is little understanding of the direct causality of this disease. The host susceptibility hypothesis developed here states that although numerous environmental and pathological factors may vary around a lobster, it is eventually the lobster's internal state that is permissive to or shields it from the final onset of the diseased state. To support the host susceptibility hypothesis, we conceptualized a model of shell disease onset and severity to allow further research on shell disease to progress from a structured model. The model states that shell disease onset will occur when the net cuticle degradation (bacterial degradation, decrease of host immune response to bacteria, natural wear, and resorption) is greater than the net deposition (growth, maintenance, and inflammatory response) of the shell. Furthermore, lesion severity depends on the extent to which cuticle degradation exceeds deposition. This model is consistent with natural observations of shell disease in American lobster.

  15. Infection's Sweet Tooth: How Glycans Mediate Infection and Disease Susceptibility.

    Science.gov (United States)

    Taylor, Steven L; McGuckin, Michael A; Wesselingh, Steve; Rogers, Geraint B

    2018-02-01

    Glycans form a highly variable constituent of our mucosal surfaces and profoundly affect our susceptibility to infection and disease. The diversity and importance of these surface glycans can be seen in individuals who lack a functional copy of the fucosyltransferase gene, FUT2. Representing around one-fifth of the population, these individuals have an altered susceptibility to many bacterial and viral infections and diseases. The mediation of host-pathogen interactions by mucosal glycans, such as those added by FUT2, is poorly understood. We highlight, with specific examples, important mechanisms by which host glycans influence infection dynamics, including by: acting as pathogen receptors (or receptor-decoys), promoting microbial stability, altering the physical characteristics of mucus, and acting as immunological markers. We argue that the effect glycans have on infection dynamics has profound implications for many aspects of healthcare and policy, including clinical management, outbreak control, and vaccination policy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  16. Safety handling of beryllium for fusion technology R and D

    International Nuclear Information System (INIS)

    Yoshida, Hiroshi; Okamoto, Makoto; Terai, Takayuki; Odawara, Osamu; Ashibe, Kusuo; Ohara, Atsushi.

    1992-07-01

    Feasibility of beryllium use as a blanket neutron multiplier, first wall and plasma facing material has been studied for the D-T burning experiment reactors such as ITER. Various experimental work of beryllium and its compounds will be performed under the conditions of high temperature and high energy particle exposure simulating fusion reactor conditions. Beryllium is known as a hazardous substance and its handling has been carefully controlled by various health and safe guidances and/or regulations in many countries. Japanese regulations for hazardous substance provide various guidelines on beryllium for the protection of industrial workers and environment. This report was prepared for the safe handling of beryllium in a laboratory scale experiments for fusion technology R and D such as blanket development. Major items in this report are; (1) Brief review of guidances and regulations in USA, UK and Japan. (2) Safe handling and administration manuals at beryllium facilities in INEL, LANL and JET. (3) Conceptual design study of beryllium handling facility for small to mid-scale blanket R and D. (4) Data on beryllium toxicity, example of clinical diagnosis of beryllium disease, and environmental occurence of beryllium. (5) Personnel protection tools of Japanese Industrial Standard for hazardous substance. (author) 61 refs

  17. METHOD OF BRAZING BERYLLIUM

    Science.gov (United States)

    Hanks, G.S.; Keil, R.W.

    1963-05-21

    A process is described for brazing beryllium metal parts by coating the beryllium with silver (65- 75 wt%)-aluminum alloy using a lithium fluoride (50 wt%)-lithium chloride flux, and heating the coated joint to a temperature of about 700 un. Concent 85% C for about 10 minutes. (AEC)

  18. Preparation of beryllium hydride

    International Nuclear Information System (INIS)

    Roberts, C.B.

    1975-01-01

    A process is described for preparing beryllium hydride by the direct reaction of beryllium borohydride and aluminum hydride trimethylamine adduct. Volatile by-products and unreacted reactants are readily removed from the product mass by sublimation and/or evaporation. (U.S.)

  19. Association between rs6812193 polymorphism and sporadic Parkinson's disease susceptibility.

    Science.gov (United States)

    Huo, Qiang; Li, Tao; Zhao, Peiqing; Wang, Lianqing

    2015-08-01

    Recently, the association of a single nucleotide polymorphism rs6812193 C/T with sporadic Parkinson's disease (PD) susceptibility has been widely evaluated, but the results remained inconsistent. This association should be clarified because of the importance of it on human health and quality of life. We performed a comprehensive meta-analysis to evaluate the association between the rs6812193 polymorphism and sporadic PD. PubMed was used to retrieve articles published up to June 2014 for all studies evaluating the rs6812193 polymorphism and PD in humans. Ethnicity-specific subgroup analysis was also performed based on ethnicity susceptibility. A total of 17 independent study samples (15 Caucasians and 2 Asians) including 17,956 cases and 52,751 controls were used in the presented study. The MAFT (minor allele T frequency) in PD patients of European descent is obviously higher than Asian cases (p susceptibility among overall samples (OR 0.882, 95 % CI 0.856-0.908) and Caucasian population (OR 0.881, 95 % CI 0.856-0.907), but not in Asian samples (OR 0.918, 95 % CI 0.721-1.168). No evidence of publication bias was observed. Throughout our analysis, the rs6812193 polymorphism is significantly associated with sporadic PD susceptibility in Caucasian samples, and ethnicity might be the key point of inconsistency in rs6812193 studies. Further studies are warranted to re-examine the observed associations, especially in different ethnicities.

  20. Influence of the factor V Leiden mutation on infectious disease susceptibility and outcome

    DEFF Research Database (Denmark)

    Benfield, Thomas L; Dahl, Mortens; Nordestgaard, Borge G

    2005-01-01

    The effect of the coagulation factor V Leiden mutation on infectious disease susceptibility and outcome is controversial.......The effect of the coagulation factor V Leiden mutation on infectious disease susceptibility and outcome is controversial....

  1. [Emotional stress-induced Shanghuo syndrome increases disease susceptibility].

    Science.gov (United States)

    Zhu, Si-Rui; Luo, Xiang; Li, Yi-Fang; Hiroshi, Kurihara; He, Rong-Rong

    2018-04-01

    Shanghuo(excessive internal heat) is a special organic state based on the concept of traditional Chinese medicine(TCM), commonly known as the abnormal heating syndrome of body in folks. With the acceleration of modern life rhythm and the increase of the social competition pressure, emotional stress has become an important cause for the spread of Shanghuo symptoms. What's more, Shanghuo can impact the body physiological functions to cause the onset, recurrence and progression of common diseases, harming the health of the body. According to the long-term research findings, the author found that Shanghuo referred to the imbalance of multiple physiological functions, such as nerve, immunity and metabolism, caused by emotional stress. "Shanghuo" is not a disease itself, but it can increase the susceptibility to a variety of diseases. This study reviewed the traditional medicine theory and the modern medical studies, and explored the relevance and correlation mechanisms between the Shanghuo symptoms and disease susceptibility, so as to provide a reference to improve the state of sub-health and prevent or treat modern diseases. Copyright© by the Chinese Pharmaceutical Association.

  2. Corrosion of beryllium

    International Nuclear Information System (INIS)

    Mueller, J.J.; Adolphson, D.R.

    1987-01-01

    The corrosion behavior of beryllium in aqueous and elevated-temperature oxidizing environments has been extensively studied for early-intended use of beryllium in nuclear reactors and in jet and rocket propulsion systems. Since that time, beryllium has been used as a structural material in les corrosive environments. Its primary applications include gyro systems, mirror and reentry vehicle structures, and aircraft brakes. Only a small amount of information has been published that is directly related to the evaluation of beryllium for service in the less severe or normal atmospheric environments associated with these applications. Despite the lack of published data on the corrosion of beryllium in atmospheric environments, much can be deduced about its corrosion behavior from studies of aqueous corrosion and the experiences of fabricators and users in applying, handling, processing, storing, and shipping beryllium components. The methods of corrosion protection implemented to resist water and high-temperature gaseous environments provide useful information on methods that can be applied to protect beryllium for service in future long-term structural applications

  3. Beryllium poisonings; Les intoxications par le beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Alibert, S.

    1959-03-15

    This note reports a bibliographical study of beryllium toxicity. Thus, this bibliographical review addresses and outlines aspects and issues like aetiology, cases of acute poisoning (cutaneous manifestations, pulmonary manifestations), chronic poisoning (cutaneous, pulmonary and bone manifestations), excretion and localisation, and prognosis.

  4. Validation of cleaning method for various parts fabricated at a Beryllium facility

    Energy Technology Data Exchange (ETDEWEB)

    Davis, Cynthia M. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

    2015-12-15

    This study evaluated and documented a cleaning process that is used to clean parts that are fabricated at a beryllium facility at Los Alamos National Laboratory. The purpose of evaluating this cleaning process was to validate and approve it for future use to assure beryllium surface levels are below the Department of Energy’s release limits without the need to sample all parts leaving the facility. Inhaling or coming in contact with beryllium can cause an immune response that can result in an individual becoming sensitized to beryllium, which can then lead to a disease of the lungs called chronic beryllium disease, and possibly lung cancer. Thirty aluminum and thirty stainless steel parts were fabricated on a lathe in the beryllium facility, as well as thirty-two beryllium parts, for the purpose of testing a parts cleaning method that involved the use of ultrasonic cleaners. A cleaning method was created, documented, validated, and approved, to reduce beryllium contamination.

  5. Study beryllium microplastic deformation

    International Nuclear Information System (INIS)

    Papirov, I.I.; Ivantsov, V.I.; Nikolaenko, A.A.; Shokurov, V.S.; Tuzov, Yu.V.

    2015-01-01

    Microplastic flow characteristics systematically studied for different varieties beryllium. In isostatically pressed beryllium it decreased with increasing particle size of the powder, increasing temperature and increasing the pressing metal purity. High initial values of the limit microelasticity and microflow in some cases are due a high level of internal stresses of thermal origin and over time it can relax slowly. During long-term storage of beryllium materials with high initial resistance values microplastic deformation microflow limit and microflow stress markedly reduced, due mainly to the relaxation of thermal microstrain

  6. Preparation of beryllium hydride

    International Nuclear Information System (INIS)

    Lowrance, B.R.

    1975-01-01

    A process is described for the preparation of beryllium hydride which comprises pyrolyzing, while in solution in a solvent inert under the reaction conditions, with respect to reactants and products and at a temperature in the range of about 100 0 to about 200 0 C, sufficient to result in the formation of beryllium hydride, a di-t-alkyl beryllium etherate wherein each tertiary alkyl radical contains from 4 to 20 carbon atoms. The pyrolysis is carried out under an atmosphere inert under the reaction conditions, with respect to reactants and products. (U.S.)

  7. Beryllium and copper-beryllium alloys; Beryllium und Kupfer-Beryllium-Legierungen

    Energy Technology Data Exchange (ETDEWEB)

    Nagel, Nikolaus [Materion Brush GmbH, Stuttgart (Germany). Operation and Quality/EH and S

    2017-02-15

    The light metal beryllium is a comparatively rare element, which today is primarily derived from bertrandite. It is mainly used as pure metal or in the form of copper-beryllium alloys, e.g., in automotive industry, aerospace, and electrical components. The wide range of applications is mainly attributed to the extremely high rigidity/density ratio. An overview of the history of the metal, its production, and recycling as well as the properties of CuBe alloys are given.

  8. Preparation of beryllium hydride

    International Nuclear Information System (INIS)

    Bergeron, C.R.; Baker, R.W.

    1975-01-01

    Beryllium hydride of high bulk density, suitable for use as a component of high-energy fuels, is prepared by the pyrolysis, in solution in an inert solvent, of a ditertiary-alkyl beryllium. An agitator introduces mechanical energy into the reaction system, during the pyrolysis, at the rate of 0.002 to 0.30 horsepower per gallon of reaction mixture. (U.S.)

  9. Genetic variants of CD209 associated with Kawasaki disease susceptibility.

    Directory of Open Access Journals (Sweden)

    Ho-Chang Kuo

    Full Text Available BACKGROUND: Kawasaki disease (KD is a systemic vasculitis with unknown etiology mainly affecting children in Asian countries. Dendritic cell-specific intercellular adhesion molecule-3 grabbing non-integrin (DC-SIGN, CD209 in humans was showed to trigger an anti-inflammatory cascade and associated with KD susceptibility. This study was conducted to investigate the association between genetic polymorphisms of CD209 and the risk KD. METHODS: A total of 948 subjects (381 KD and 567 controls were recruited. Nine tagging SNPs (rs8112310, rs4804800, rs11465421, rs1544766, rs4804801, rs2287886, rs735239, rs735240, rs4804804 were selected for TaqMan allelic discrimination assay. Clinical phenotypes, coronary artery lesions (CAL and intravenous immunoglobulin (IVIG treatment outcomes were collected for analysis. RESULTS: Significant associations were found between CD209 polymorphisms (rs4804800, rs2287886, rs735240 and the risk of KD. Haplotype analysis for CD209 polymorphisms showed that A/A/G haplotype (P = 0.0002, OR = 1.61 and G/A/G haplotype (P = 0.0365, OR = 1.52 had higher risk of KD as compared with G/G/A haplotype in rs2287886/rs735239/rs735240 pairwise allele analysis. There were no significant association in KD with regards to CAL formation and IVIG treatment responses. CONCLUSION: CD209 polymorphisms were responsible for the susceptibility of KD, but not CAL formation and IVIG treatment responsiveness.

  10. Genetic Variants of CD209 Associated with Kawasaki Disease Susceptibility

    Science.gov (United States)

    Kuo, Ho-Chang; Huang, Ying-Hsien; Chien, Shu-Chen; Yu, Hong-Ren; Hsieh, Kai-Sheng; Hsu, Yu-Wen; Chang, Wei-Chiao

    2014-01-01

    Background Kawasaki disease (KD) is a systemic vasculitis with unknown etiology mainly affecting children in Asian countries. Dendritic cell-specific intercellular adhesion molecule-3 grabbing non-integrin (DC-SIGN, CD209) in humans was showed to trigger an anti-inflammatory cascade and associated with KD susceptibility. This study was conducted to investigate the association between genetic polymorphisms of CD209 and the risk KD. Methods A total of 948 subjects (381 KD and 567 controls) were recruited. Nine tagging SNPs (rs8112310, rs4804800, rs11465421, rs1544766, rs4804801, rs2287886, rs735239, rs735240, rs4804804) were selected for TaqMan allelic discrimination assay. Clinical phenotypes, coronary artery lesions (CAL) and intravenous immunoglobulin (IVIG) treatment outcomes were collected for analysis. Results Significant associations were found between CD209 polymorphisms (rs4804800, rs2287886, rs735240) and the risk of KD. Haplotype analysis for CD209 polymorphisms showed that A/A/G haplotype (P = 0.0002, OR = 1.61) and G/A/G haplotype (P = 0.0365, OR = 1.52) had higher risk of KD as compared with G/G/A haplotype in rs2287886/rs735239/rs735240 pairwise allele analysis. There were no significant association in KD with regards to CAL formation and IVIG treatment responses. Conclusion CD209 polymorphisms were responsible for the susceptibility of KD, but not CAL formation and IVIG treatment responsiveness. PMID:25148534

  11. Allele-specific DNA methylation of disease susceptibility genes in Japanese patients with inflammatory bowel disease.

    Science.gov (United States)

    Chiba, Hirofumi; Kakuta, Yoichi; Kinouchi, Yoshitaka; Kawai, Yosuke; Watanabe, Kazuhiro; Nagao, Munenori; Naito, Takeo; Onodera, Motoyuki; Moroi, Rintaro; Kuroha, Masatake; Kanazawa, Yoshitake; Kimura, Tomoya; Shiga, Hisashi; Endo, Katsuya; Negoro, Kenichi; Nagasaki, Masao; Unno, Michiaki; Shimosegawa, Tooru

    2018-01-01

    Inflammatory bowel disease (IBD) has an unknown etiology; however, accumulating evidence suggests that IBD is a multifactorial disease influenced by a combination of genetic and environmental factors. The influence of genetic variants on DNA methylation in cis and cis effects on expression have been demonstrated. We hypothesized that IBD susceptibility single-nucleotide polymorphisms (SNPs) regulate susceptibility gene expressions in cis by regulating DNA methylation around SNPs. For this, we determined cis-regulated allele-specific DNA methylation (ASM) around IBD susceptibility genes in CD4+ effector/memory T cells (Tem) in lamina propria mononuclear cells (LPMCs) in patients with IBD and examined the association between the ASM SNP genotype and neighboring susceptibility gene expressions. CD4+ effector/memory T cells (Tem) were isolated from LPMCs in 15 Japanese IBD patients (ten Crohn's disease [CD] and five ulcerative colitis [UC] patients). ASM analysis was performed by methylation-sensitive SNP array analysis. We defined ASM as a changing average relative allele score ([Formula: see text]) >0.1 after digestion by methylation-sensitive restriction enzymes. Among SNPs showing [Formula: see text] >0.1, we extracted the probes located on tag-SNPs of 200 IBD susceptibility loci and around IBD susceptibility genes as candidate ASM SNPs. To validate ASM, bisulfite-pyrosequencing was performed. Transcriptome analysis was examined in 11 IBD patients (seven CD and four UC patients). The relation between rs36221701 genotype and neighboring gene expressions were analyzed. We extracted six candidate ASM SNPs around IBD susceptibility genes. The top of [Formula: see text] (0.23) was rs1130368 located on HLA-DQB1. ASM around rs36221701 ([Formula: see text] = 0.14) located near SMAD3 was validated using bisulfite pyrosequencing. The SMAD3 expression was significantly associated with the rs36221701 genotype (p = 0.016). We confirmed the existence of cis-regulated ASM around

  12. Allele-specific DNA methylation of disease susceptibility genes in Japanese patients with inflammatory bowel disease

    Science.gov (United States)

    Chiba, Hirofumi; Kakuta, Yoichi; Kinouchi, Yoshitaka; Kawai, Yosuke; Watanabe, Kazuhiro; Nagao, Munenori; Naito, Takeo; Onodera, Motoyuki; Moroi, Rintaro; Kuroha, Masatake; Kanazawa, Yoshitake; Kimura, Tomoya; Shiga, Hisashi; Endo, Katsuya; Negoro, Kenichi; Nagasaki, Masao; Unno, Michiaki; Shimosegawa, Tooru

    2018-01-01

    Background Inflammatory bowel disease (IBD) has an unknown etiology; however, accumulating evidence suggests that IBD is a multifactorial disease influenced by a combination of genetic and environmental factors. The influence of genetic variants on DNA methylation in cis and cis effects on expression have been demonstrated. We hypothesized that IBD susceptibility single-nucleotide polymorphisms (SNPs) regulate susceptibility gene expressions in cis by regulating DNA methylation around SNPs. For this, we determined cis-regulated allele-specific DNA methylation (ASM) around IBD susceptibility genes in CD4+ effector/memory T cells (Tem) in lamina propria mononuclear cells (LPMCs) in patients with IBD and examined the association between the ASM SNP genotype and neighboring susceptibility gene expressions. Methods CD4+ effector/memory T cells (Tem) were isolated from LPMCs in 15 Japanese IBD patients (ten Crohn's disease [CD] and five ulcerative colitis [UC] patients). ASM analysis was performed by methylation-sensitive SNP array analysis. We defined ASM as a changing average relative allele score (ΔRAS¯) >0.1 after digestion by methylation-sensitive restriction enzymes. Among SNPs showing ΔRAS¯ >0.1, we extracted the probes located on tag-SNPs of 200 IBD susceptibility loci and around IBD susceptibility genes as candidate ASM SNPs. To validate ASM, bisulfite-pyrosequencing was performed. Transcriptome analysis was examined in 11 IBD patients (seven CD and four UC patients). The relation between rs36221701 genotype and neighboring gene expressions were analyzed. Results We extracted six candidate ASM SNPs around IBD susceptibility genes. The top of ΔRAS¯ (0.23) was rs1130368 located on HLA-DQB1. ASM around rs36221701 (ΔRAS¯ = 0.14) located near SMAD3 was validated using bisulfite pyrosequencing. The SMAD3 expression was significantly associated with the rs36221701 genotype (p = 0.016). Conclusions We confirmed the existence of cis-regulated ASM around IBD

  13. Additional mechanisms conferring genetic susceptibility to Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Miguel eCalero

    2015-04-01

    Full Text Available Familial Alzheimer's disease (AD, mostly associated with early onset, is caused by mutations in three genes (APP, PSEN1 and PSEN2 involved in the production of the amyloid  peptide. In contrast, the molecular mechanisms that trigger the most common late onset sporadic AD remain largely unknown. With the implementation of an increasing number of case-control studies and the upcoming of large-scale genome-wide association studies (GWAS there is a mounting list of genetic risk factors associated to common genetic variants that have been associated to sporadic AD. Besides APOE, that presents a strong association with the disease (OR~4, the rest of these genes have moderate or low degrees of association, with OR ranging from 0.88 to 1.23. Taking together, these genes may account only for a fraction of the attributable AD risk and therefore, rare variants and epistastic gene interactions should be taken into account in order to get the full picture of the genetic risks associated to AD. Here, we review recent whole-exome studies looking for rare variants, somatic brain mutations with a strong association to the disease, and several studies dealing with epistasis as additional mechanisms conferring genetic susceptibility to AD. Altogether, recent evidence underlines the importance of defining molecular and genetic pathways and networks rather than the contribution of specific genes.

  14. Cardiovascular Disease Susceptibility and Resistance in Circumpolar Inuit Populations.

    Science.gov (United States)

    Tvermosegaard, Maria; Dahl-Petersen, Inger K; Nielsen, Nina Odgaard; Bjerregaard, Peter; Jørgensen, Marit Eika

    2015-09-01

    Cardiovascular disease (CVD) is a major public health issue in indigenous populations in the Arctic. These diseases have emerged concomitantly with profound social changes over the past 60 years. The aim of this study was to summarize the literature on CVD risk among Arctic Inuit. Literature on prevalence, incidence, and time trends for CVD and its risk factors in Arctic Inuit populations was reviewed. Most evidence supports a similar incidence of coronary heart disease and a higher incidence of cerebrovascular disease among Arctic Inuit than seen in western populations. Factors that may increase CVD risk include aging of the population, genetic susceptibility, and a rapid increase in obesity, diabetes, and hypertension in parallel with decreasing physical activity and deterioration of the lipid profile. In contrast, and of great importance, there has been a decrease in smoking and alcohol intake (at least documented in Greenland), and contaminant levels are declining. Although there have been marked socioeconomic and dietary changes, it remains unsolved and to some extent controversial how this may have influenced cardiovascular risk among Arctic Inuit. The increase in life expectancy, in combination with improved prognosis for patients with manifest CVD, will inevitably lead to a large increase in absolute numbers of individuals affected by CVD in Arctic Inuit populations, exacerbated by the rise in most CVD risk factors over the past decades. For preventive purposes and for health care planning, it is crucial to carefully monitor disease incidence and trends in risk factors in these vulnerable Arctic populations. Copyright © 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  15. PTPN22 gene polymorphisms in autoimmune diseases with special reference to systemic lupus erythematosus disease susceptibility

    Directory of Open Access Journals (Sweden)

    Pradhan V

    2010-01-01

    Full Text Available Systemic lupus erythematosus (SLE is a prototype autoimmune disease. SLE is a result of one or more immune mechanisms, like autoantibody production, complement activation, multiple inflammation and immune complex deposition leading to organ tissue damage. SLE affected patients are susceptible to common and opportunistic infections. There are several reports suggesting that Mycobacterium tuberculosis infection precipitates SLE in patients from endemic areas. Genetic factors and environmental factors also play an important role in the overall susceptibility to SLE pathophysiology. Recently, protein tyrosine phosphatase, non-receptor type 22 (PTPN22 gene, has been found to be associated with several autoimmune diseases like SLE, Grave′s disease and Hashimoto thyroiditis. The missense R620W polymorphism, rs 2476601, in PTPN22 gene at the nucleotide 1858 in codon 620 (620Arg > Trp has been associated with autoimmune diseases. The PTPN22 locus is also found to be responsible for development of pulmonary tuberculosis in certain populations. The PTPN22 1858C/T gene locus will be ideal to look for SLE susceptibility to tuberculosis in the Indian population. In this review, we focus on human PTPN22 gene structure and function as well as the association of PTPN22 gene polymorphisms with SLE susceptibility

  16. Sintering of beryllium oxide

    International Nuclear Information System (INIS)

    Caillat, R.; Pointud, R.

    1955-01-01

    This study had for origin to find a process permitting to manufacture bricks of beryllium oxide of pure nuclear grade, with a density as elevated as possible and with standardized shape. The sintering under load was the technique kept for the manufacture of the bricks. Because of the important toxicity of the beryllium oxide, the general features for the preliminary study of the sintering, have been determined while using alumina. The obtained results will be able to act as general indication for ulterior studies with sintering under load. (M.B.) [fr

  17. Disease susceptibility genes shared by primary biliary cirrhosis and Crohn's disease in the Japanese population.

    Science.gov (United States)

    Aiba, Yoshihiro; Yamazaki, Keiko; Nishida, Nao; Kawashima, Minae; Hitomi, Yuki; Nakamura, Hitomi; Komori, Atsumasa; Fuyuno, Yuta; Takahashi, Atsushi; Kawaguchi, Takaaki; Takazoe, Masakazu; Suzuki, Yasuo; Motoya, Satoshi; Matsui, Toshiyuki; Esaki, Motohiro; Matsumoto, Takayuki; Kubo, Michiaki; Tokunaga, Katsushi; Nakamura, Minoru

    2015-09-01

    We previously identified TNFSF15 as the most significant susceptibility gene at non-HLA loci for both primary biliary cirrhosis (PBC) and Crohn's diseases (CD) in the Japanese population. The aim of this study is to identify further disease susceptibility genes shared by PBC and CD. We selected 15 and 33 genetic variants that were significantly associated with PBC and CD, respectively, based on previously reported genome-wide association studies of the Japanese population. Next, an association study was independently performed for these genetic variants in CD (1312 CD patients and 3331 healthy controls) and PBC (1279 PBC patients and 1015 healthy controls) cohorts. Two CD susceptibility genes, ICOSLG rs2838519 and IL12B rs6556412, were also nominally associated with susceptibility to PBC (P=3.85 × 10(-2) and P=8.40 × 10(-3), respectively). Three PBC susceptibility genes, CXCR5 rs6421571, STAT4 rs7574865 and NFKB1 rs230534, were nominally associated with susceptibility to CD (P=2.82 × 10(-2), P=3.88 × 10(-2) and P=2.04 × 10(-2), respectively). The effect of ICOSLG and CXCR5 variants were concordant but the effect of STAT4, NFKB1 and IL12B variants were discordant for PBC and CD. TNFSF15 and ICOSLG-CXCR5 might constitute a shared pathogenic pathway in the development of PBC and CD in the Japanese population, whereas IL12B-STAT4-NFKB1 might constitute an opposite pathogenic pathway, reflecting the different balance between Th1 and Th17 in the two diseases.

  18. GAB2 as an Alzheimer Disease Susceptibility Gene

    Science.gov (United States)

    Schjeide, Brit-Maren M.; Hooli, Basavaraj; Parkinson, Michele; Hogan, Meghan F.; DiVito, Jason; Mullin, Kristina; Blacker, Deborah; Tanzi, Rudolph E.; Bertram, Lars

    2009-01-01

    Background Genomewide association (GWA) studies have recently implicated 4 novel Alzheimer disease (AD) susceptibility loci (GAB2, GOLM1, and 2 uncharacterized loci to date on chromosomes 9p and 15q). To our knowledge, these findings have not been independently replicated. Objective To assess these GWA findings in 4 large data sets of families affected by AD. Design Follow-up of genetic association findings in previous studies. Setting Academic research. Participants More than 4000 DNA samples from almost 1300 families affected with AD. Main Outcome Measures Genetic association analysis testing of 4 GWA signals (rs7101429 [GAB2], rs7019241 [GOLM1], rs10519262 [chromosome 15q], and rs9886784 [chromosome 9p]) using family-based methods. Results In the combined analyses, only rs7101429 in GAB2 yielded significant evidence of association with the same allele as in the original GWA study (P = .002). The results are in agreement with recent meta-analyses of this and other GAB2 polymorphisms suggesting approximately a 30% decrease in risk for AD among carriers of the minor alleles. None of the other 3 tested loci showed consistent evidence for association with AD across the investigated data sets. Conclusions GAB2 contains genetic variants that may lead to a modest change in the risk for AD. Despite these promising results, more data from independent samples are needed to better evaluate the potential contribution of GAB2 to AD risk in the general population. PMID:19204163

  19. Clinical application of MR susceptibility weighted imaging in cerebrovascular diseases

    International Nuclear Information System (INIS)

    Zhu Wenzhen; Qi Jianpin; Shen Hao; Wang Chengyuan; Xia Liming; Hu Junwu; Feng Dingyi

    2007-01-01

    Objective: To assess clinical application value of susceptibility weighted imaging (SWI) in cerebrovascular diseases. Method: Twenty-three patients with cerebrovascular disease were investigated, including 7 cases of cavernoma, 4 of venous hemangioma, 3 of small AVM, 1 of Sturge-Weber Syndrome, 2 of cerebral venous sinus thrombosis and 6 of chronic cerebral infarction. All patients underwent standard Mill and SWI, and most of them also underwent enhanced T 1 WI and MRA. The corrected phase (CP) values were obtained at the lesions and control areas. Results: The average CP values of the lesions and the control areas were -0.112±0.032 and -0.013±0.004, respectively (t=2.167, P 2 WI. The cavemoma could be differentiated from the hemorrhage within lesions. Moreover, multiple microcavernomas were detected on SWI. In 4 cases of venous hemangioma, SWI detected spider-like lesions with more hair-thin pulp veins adjacent to the dilated draining vein than contrast MRI. In 3 cases of small AVM, SWI was more advantageous than MRA in clearly detecting the small feeding artery. In 1 case of Sturge-Weber Syndrome, SWI demonstrated large areas of calcification and the abnormal vessels on the cerebral surface and the deep part of the cerebrum at the same time. In 2 cases of cerebral venous sinus thrombosis, the deep draining veins and superficial venous rete were generally dilated and winding, and the hemorrhagic lesions could be detected earlier than conventional MR images in one case. In 6 eases of cerebral infarction, old hemorrhage was clearly displayed within the lesions. Conclusion: SWI has more predominant advantages than conventional MRI and MRA in detecting the low-flow cerebral vascular malformations, identifying microbleeds and cerebral infarction accompanying hemorrhage, and the dilation of cerebral deep or superficial veins in patients with cerebral venous sinus thrombosis. Moreover, SWI can show the phase contrast between the lesions and the control areas. (authors)

  20. Historical perspectives on the uses and health risks of beryllium

    International Nuclear Information System (INIS)

    Preuss, O.P.

    1985-01-01

    Unawareness of the health risks of beryllium resulted in a decade of unmitigated exposure of several thousand workers and numerous cases of beryllium disease in employees and nearby residents. Subsequent adoption of exposure limits and their implementation with effective technical controls reduced the occurrence of new cases, which were mainly due to accidental exposures, to a minimum. The fact that continuously growing production and consumption did not alter this trend demonstrates the effectiveness of the present threshold limit value. It shows that the potential health hazard can be well contained and that beryllium can be produced and fabricated without undue risk to employees or the general public

  1. Comparison of protein profiles of beech bark disease-resistant or beech bark disease-susceptible American beech

    Science.gov (United States)

    Mary E. Mason; Marek Krasowski; Judy Loo; Jennifer. Koch

    2011-01-01

    Proteomic analysis of beech bark proteins from trees resistant and susceptible to beech bark disease (BBD) was conducted. Sixteen trees from eight geographically isolated stands, 10 resistant (healthy) and 6 susceptible (diseased/infested) trees, were studied. The genetic complexity of the sample unit, the sampling across a wide geographic area, and the complexity of...

  2. Thermal effects on beryllium mirrors

    International Nuclear Information System (INIS)

    Weinswig, S.

    1989-01-01

    Beryllium is probably the most frequently used material for spaceborne system scan mirrors. Beryllium's properties include lightweightedness, high Young's modulus, high stiffness value, high resonance value. As an optical surface, beryllium is usually nickel plated in order to produce a higher quality surface. This process leads to the beryllium mirror acting like a bimetallic device. The mirror's deformation due to the bimetallic property can possibly degrade the performance of the associated optical system. As large space borne systems are designed and as temperature considerations become more crucial in the instruments, the concern about temporal deformation of the scan mirrors becomes a prime consideration. Therefore, two sets of tests have been conducted in order to ascertain the thermal effects on nickel plated beryllium mirrors. These tests are categorized. The purpose of this paper is to present the values of the bimetallic effect on typical nickel plated beryllium mirrors

  3. Are happy chickens safer chickens? Poultry welfare and disease susceptibility.

    Science.gov (United States)

    Humphrey, Tom

    2006-08-01

    1. Contaminated chicken meat remains an internationally important vehicle for human infection with Salmonella and Campylobacter spp. In addition, the last 20 years has seen an international pandemic of human salmonellosis caused by the contamination of eggs with Salmonella Enteritidis. 2. It has been a long held scientific view that Campylobacter spp. and most, if not all of the common zoonotic salmonella, are essentially commensal in chickens. They usually form part of the gut flora and contaminate chicken carcases, for example, by faecal spillage at slaughter. Even when certain salmonella serovars like S. Enteritidis are invasive in laying hens overt evidence of clinical disease is rare and the birds appear to behave normally. 3. Are these bacteria just 'passing through' the avian host and only transient members of the bacterial flora or is there a more dynamic perspective to this infection/colonisation process? Chickens mount antibody responses to both pathogens, which indicate something other than commensalism. Such immune responses, however, do not always result in the clearance of the pathogen. 4. Not all animals in a group will carry salmonella or campylobacter, even under experimental conditions, and will vary, especially those that are outbred, in their responses to pathogen challenge. Identifying the reasons behind this could have important implications for disease control. 5. Both salmonella and campylobacter are more likely to be found in animals, which are compromised and this may explain at least part of the variations seen. Animals are more susceptible to infection when they are in a poor environment, fed a poor diet and/or under physical or psychological stress. 6. Work in this area has naturally focused on pathogens of medical significance and has shown that neurotransmitters such as noradrenaline can markedly alter pathogen behaviour. Other host responses like Interferon gamma can also affect host tissues in a way, which facilitates invasion by

  4. Beryllium. Its minerals. Pt. 1

    International Nuclear Information System (INIS)

    Lires, O.A.; Delfino, C.A.; Botbol, J.

    1990-01-01

    With this work a series of reports begins, under the generic name 'Beryllium', related to several aspects of beryllium technology. The target is to update, with critical sense, current bibliographic material in order to be used in further applications. Some of the most important beryllium ores, the Argentine emplacement of their deposits and world occurrence are described. Argentine and world production, resources and reserves are indicated here as well. (Author) [es

  5. Beryllium Metal Supply Options

    Science.gov (United States)

    1989-01-01

    Carcinogen Assessment Group (U.S. Environmental Protec- tion Agency, 1987). The National Institute of Occupational Safety and Health is currently examining...Epidemiology of beryllium intox- ication. Arch. Ind. Hyg. Occup . Med. 4:123-151. U. S. Environmental Protection Agency 1987. Health Assessment Document...1957 to 1961. He rejoined the Bureau of Mines in 1961 as the aluminum and bauxite commcdity specialist. In 1973 he became chief of the Division of

  6. Beryllium and zirconium

    International Nuclear Information System (INIS)

    Salesse, Marc

    1959-01-01

    Pure beryllium and zirconium, both isolated at about the same date but more than a century ago remained practically unused for eighty years. Fifteen years ago they were released from this state of inactivity by atomic energy, which made them into current metal a with an annual production which runs into tens of tons for the one and thousands for the other. The reasons for this promotion promise well for the future of the two metals, which moreover will probably find additional uses in other branches of industry. The attraction of beryllium and zirconium for atomic energy is easily explained. The curve of figure 1 gives the price per gram of uranium-235 as a function of enrichment: this price increases by about a factor of 3 on passing from natural uranium (0, 7 percent 235 U) to almost pure uranium-235. Because of their tow capture cross-section beryllium and zirconium make it possible, or at least easier, to use natural uranium and they thus enjoy an advantage the extent of which must be calculated for each reactor or fuel element project, but which is generally considerable. It will be seen later that this advantage should be based on figures which are even more favourable that would appear from the simple ratio 3 of the price of pure uranium- 235 contained in natural uranium. Reprint of a paper published in 'Industries Atomiques' - n. 1-2, 1959

  7. Characterization of shocked beryllium

    Directory of Open Access Journals (Sweden)

    Papin P.A.

    2012-08-01

    Full Text Available While numerous studies have investigated the low-strain-rate constitutive response of beryllium, the combined influence of high strain rate and temperature on the mechanical behavior and microstructure of beryllium has received limited attention over the last 40 years. In the current work, high strain rate tests were conducted using both explosive drive and a gas gun to accelerate the material. Prior studies have focused on tensile loading behavior, or limited conditions of dynamic strain rate and/or temperature. Two constitutive strength (plasticity models, the Preston-Tonks-Wallace (PTW and Mechanical Threshold Stress (MTS models, were calibrated using common quasi-static and Hopkinson bar data. However, simulations with the two models give noticeably different results when compared with the measured experimental wave profiles. The experimental results indicate that, even if fractured by the initial shock loading, the Be remains sufficiently intact to support a shear stress following partial release and subsequent shock re-loading. Additional “arrested” drive shots were designed and tested to minimize the reflected tensile pulse in the sample. These tests were done to both validate the model and to put large shock induced compressive loads into the beryllium sample.

  8. Ethical issues of genetic susceptibility testing for occupational diseases: opinions of trainees in a high-risk job

    NARCIS (Netherlands)

    Visser, M. J.; Rhebergen, M. D. F.; Kezic, S.; van Dijk, F. J. H.; Willems, D. L.; Verberk, M. M.

    2013-01-01

    Genetic research has opened up possibilities for identification of persons with an increased susceptibility for occupational disease. However, regulations considering the ethical issues that are inevitably associated with the use of genetic tests for susceptibility for occupational diseases are

  9. Beryllium. Beryllium oxide, obtention and properties. Pt.4

    International Nuclear Information System (INIS)

    Lires, O.A.; Delfino, C.A.; Botbol, J.

    1991-01-01

    As a continuation of the 'Beryllium' series this work reviews several methods of high purity beryllia production. Diverse methods of obtention and purification from different beryllium compounds are described. Some chemical, mechanical and electrical properties related with beryllia obtention methods are summarized. (Author) [es

  10. Plasma spraying of beryllium and beryllium-aluminum-silver alloys

    International Nuclear Information System (INIS)

    Castro, R.G.; Stanek, P.W.; Elliott, K.E.; Jacobson, L.A.

    1994-01-01

    A preliminary investigation on plasma-spraying of beryllium and a beryllium-aluminum-4% silver alloy was done at the Los Alamos National Laboratory's Beryllium Atomization and Thermal Spray Facility (BATSF). Spherical Be and Be-Al-4%Ag powders, which were produced by centrifugal atomization, were used as feedstock material for plasma-spraying. The spherical morphology of the powders allowed for better feeding of fine (<38 μm) powders into the plasma-spray torch. The difference in the as-deposited densities and deposit efficiencies of the two plasma-sprayed powders will be discussed along with the effect of processing parameters on the as-deposited microstructure of the Be-Al-4%Ag. This investigation represents ongoing research to develop and characterize plasma-spraying of beryllium and beryllium-aluminum alloys for magnetic fusion and aerospace applications

  11. Plasma spraying of beryllium and beryllium-aluminum-silver alloys

    International Nuclear Information System (INIS)

    Castro, R.G.; Stanek, P.W.; Elliott, K.E.; Jacobson, L.A.

    1993-01-01

    A preliminary investigation on plasma-spraying of beryllium and a beryllium-aluminum 4% silver alloy was done at the Los Alamos National Laboratory's Beryllium Atomization and Thermal Spray Facility (BATSF). Spherical Be and Be-Al-4%Ag powders, which were produced by centrifugal atomization, were used as feedstock material for plasma-spraying. The spherical morphology of the powders allowed for better feeding of fine (<38 μm) powders into the plasma-spray torch. The difference in the as-deposited densities and deposit efficiencies of the two plasma-sprayed powders will be discussed along with the effect of processing parameters on the as-deposited microstructure of the Be-Al-4%Ag. This investigation represents ongoing research to develop and characterize plasma-spraying of beryllium and beryllium-aluminum alloys for magnetic fusion and aerospace applications

  12. Measurements of beryllium sputtering yields at JET

    Science.gov (United States)

    Jet-Efda Contributors Stamp, M. F.; Krieger, K.; Brezinsek, S.

    2011-08-01

    The lifetime of the beryllium first wall in ITER will depend on erosion and redeposition processes. The physical sputtering yields for beryllium (both deuterium on beryllium (Be) and Be on Be) are of crucial importance since they drive the erosion process. Literature values of experimental sputtering yields show an order of magnitude variation so predictive modelling of ITER wall lifetimes has large uncertainty. We have reviewed the old beryllium yield experiments on JET and used current beryllium atomic data to produce revised beryllium sputtering yields. These experimental measurements have been compared with a simple physical sputtering model based on TRIM.SP beryllium yield data. Fair agreement is seen for beryllium yields from a clean beryllium limiter. However the yield on a beryllium divertor tile (with C/Be co-deposits) shows poor agreement at low electron temperatures indicating that the effect of the higher sputtering threshold for beryllium carbide is important.

  13. SUSCEPTIBILITY TO OZONE-INDUCED INJURY AND ANTIOXIDANT COMPENSATION IN RAT MODELS OF CARDIOVASCULAR DISEASE

    Science.gov (United States)

    Increased oxidative stress and compromised antioxidant status are common pathologic factors of cardiovascular diseases (CVD). It is hypothesized that individuals with chronic CVD are more susceptible to environmental exposures due to underlying oxidative stress. To determine the ...

  14. Corrosion of beryllium exposed to celotex and water

    International Nuclear Information System (INIS)

    Hill, M.A.; Butt, D.P.; Lillard, R.S.

    1997-01-01

    Celotex is a commercial rigid cellulose fiberboard product primarily used in the building construction industry. Currently celotex is being used as a packing material in AL-R8 containers. Ion chromatography of celotex packing material at Lawrence Livermore National Laboratory (LLNL) has indicated that this material contains aggressive anions, including chloride, which may accelerate corrosion. It is well known that beryllium is susceptible to pitting corrosion when exposed to chloride containing environments. Levy noted pitting in beryllium at the open circuit potential when exposed to 0.1 M NaCl solution. This investigation attempts to evaluate the potential risk of accelerated beryllium corrosion from celotex and water which may occur naturally when celotex dust comes into contact with moisture from the atmosphere

  15. Method for fabricating beryllium structures

    Science.gov (United States)

    Hovis, Jr., Victor M.; Northcutt, Jr., Walter G.

    1977-01-01

    Thin-walled beryllium structures are prepared by plasma spraying a mixture of beryllium powder and about 2500 to 4000 ppm silicon powder onto a suitable substrate, removing the plasma-sprayed body from the substrate and placing it in a sizing die having a coefficient of thermal expansion similar to that of the beryllium, exposing the plasma-sprayed body to a moist atmosphere, outgassing the plasma-sprayed body, and then sintering the plasma-sprayed body in an inert atmosphere to form a dense, low-porosity beryllium structure of the desired thin-wall configuration. The addition of the silicon and the exposure of the plasma-sprayed body to the moist atmosphere greatly facilitate the preparation of the beryllium structure while minimizing the heretofore deleterious problems due to grain growth and grain orientation.

  16. Doped beryllium lanthanate crystals

    International Nuclear Information System (INIS)

    1974-01-01

    Monocrystals of doped beryllium lanthanate, Be 2 Lasub(2-2x)Zsub(2x)O 5 --where Z may be any rare earth, but preferably neodymium, and x may have values between 0.001 and 0.2, but preferably between 0.007 and 0.015-- are recommended as laser hosts. They are softer and may be grown at a lower temperature than Y 3 A1 5 O 12 :Nd (YAG:Nd). Their chemical composition and preparation are described. An example of an optically pumped laser apparatus with this type of monocrystal as laser host is presented

  17. Role of T cell receptor delta gene in susceptibility to celiac disease.

    Science.gov (United States)

    Roschmann, E; Wienker, T F; Volk, B A

    1996-02-01

    There is a strong genetic influence on the susceptibility to celiac disease. Although in the vast majority of patients with celiac disease, the HLA-DQ(alpha1*0501, beta1*0201) heterodimer encoded by the alleles HLA-DQA1*0501 and HLA-DQB1*0201 seems to confer the primary disease susceptibility, it cannot be excluded that other genes contribute to disease susceptibility, as indicated by the difference in concordance rates between monozygotic twins and HLA identical siblings (70% vs. 30%). Obviously other genes involved in the genetic control of T cell mediated immune response could potentially influence susceptibility to celiac disease. The density of T cells using the gammadelta T cell receptor (TCR) is considerably increased in the jejunal epithelium of patients with celiac disease, an abnormality considered to be specific for celiac disease. This suggests an involvement of gammadelta T cells in the pathogenesis of the disease. To ascertain whether the TCR delta (TCRD) gene contributes to celiac disease susceptibility we carried out an association study and genetic linkage analysis using a highly polymorphic microsatellite marker at the TCRD locus on chromosome 14q11.2. The association study demonstrated no significant difference in allele frequencies of the TCRD gene marker between celiac disease patients and controls; accordingly, the relative risk estimates did not reach the level of statistical significance. In the linkage analysis, performed in 23 families, the logarithm of the odds (LOD) scores calculated for celiac disease versus the TCRD gene marker excluded linkage, suggesting that there is no determinant contributing to celiac disease status at or 5 cM distant to the analyzed TCRD gene marker. In conclusion, the results of the present study provide no evidence that the analyzed TCRD gene contributes substantially to celiac disease susceptibility.

  18. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease

    NARCIS (Netherlands)

    Khor, Chiea Chuen; Davila, Sonia; Breunis, Willemijn B.; Lee, Yi-Ching; Shimizu, Chisato; Wright, Victoria J.; Yeung, Rae S. M.; Tan, Dennis E. K.; Sim, Kar Seng; Wang, Jie Jin; Wong, Tien Yin; Pang, Junxiong; Mitchell, Paul; Cimaz, Rolando; Dahdah, Nagib; Cheung, Yiu-Fai; Huang, Guo-Ying; Yang, Wanling; Park, In-Sook; Lee, Jong-Keuk; Wu, Jer-Yuarn; Levin, Michael; Burns, Jane C.; Burgner, David; Kuijpers, Taco W.; Hibberd, Martin L.; Lau, Yu-Lung; Zhang, Jing; Ma, Xiao-Jing; Liu, Fang; Wu, Lin; Yoo, Jeong-Jin; Hong, Soo-Jong; Kim, Kwi-Joo; Kim, Jae-Jung; Park, Young-Mi; Mi Hong, Young; Sohn, Sejung; Young Jang, Gi; Ha, Kee-Soo; Nam, Hyo-Kyoung; Byeon, Jung-Hye; Weon Yun, Sin; Ki Han, Myung; Lee, Kyung-Yil; Hwang, Ja-Young; Kuipers, Irene M.; Ottenkamp, Jaap J.; Biezeveld, Maarten; Tacke, Carline

    2011-01-01

    Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from

  19. Thermal fatigue of beryllium

    International Nuclear Information System (INIS)

    Deksnis, E.; Ciric, D.; Falter, H.

    1995-01-01

    Thermal fatigue life of S65c beryllium castellated to a geometry 6 x 6 x (8-10)mm deep has been tested for steady heat fluxes of 3 MW/m 2 to 5 MW/m 2 and under pulsed heat fluxes (10-20 MW/m 2 ) for which the time averaged heat flux is 5 MW/m 2 . These tests were carried out in the JET neutral beam test facility A test sequence with peak surface temperatures ≤ 600 degrees C produced no visible fatigue cracks. In the second series of tests, with T max ≤ 750 degrees C evidence for fatigue appeared after a minimum of 1350 stress cycles. These fatigue data are discussed in view of the observed lack of thermal fatigue in JET plasma operations with beryllium PFC. JET experience with S65b and S65c is reviewed; recent operations with Φ = 25 MW/m 2 and sustained melting/resolidification are also presented. The need for a failure criterion for finite element analyses of Be PFC lifetimes is discussed

  20. Corrosion of beryllium oxide

    International Nuclear Information System (INIS)

    Elston, J.; Caillat, R.

    1958-01-01

    Data are reported on the volatilization rate of beryllium oxide in moist air depending on temperature and water vapour concentration. They are concerned with powder samples or sintered shapes of various densities. For sintered samples, the volatilization rate is very low under the following conditions: - temperature: 1300 deg. C, - water vapour concentration in moist air: 25 g/m 3 , - flow rate: 12 I/hour corresponding to a speed of 40 m/hour on the surface of the sample. For calcinated powders (1300 deg. C), grain growth has been observed under a stream of moist air at 1100 deg. C. For instance, grain size changes from 0,5 to at least 2 microns after 500 hours of exposure at this temperature. Furthermore, results data are reported on corrosion of sintered beryllium oxide in pressurized water. At 250 deg. C, under a pressure of 40 kg/cm 2 water is very slightly corrosive; however, internal strains are revealed. Finally, some features on the corrosion in liquid sodium are exposed. (author) [fr

  1. Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases.

    Science.gov (United States)

    Hitomi, Yuki; Tokunaga, Katsushi

    2017-01-01

    Human genome variation may cause differences in traits and disease risks. Disease-causal/susceptible genes and variants for both common and rare diseases can be detected by comprehensive whole-genome analyses, such as whole-genome sequencing (WGS), using next-generation sequencing (NGS) technology and genome-wide association studies (GWAS). Here, in addition to the application of an NGS as a whole-genome analysis method, we summarize approaches for the identification of functional disease-causal/susceptible variants from abundant genetic variants in the human genome and methods for evaluating their functional effects in human diseases, using an NGS and in silico and in vitro functional analyses. We also discuss the clinical applications of the functional disease causal/susceptible variants to personalized medicine.

  2. Electron-beam fusion welding of beryllium

    International Nuclear Information System (INIS)

    Campbell, R.P.; Dixon, R.D.; Liby, A.L.

    1978-01-01

    Ingot-sheet beryllium (Be) having three different chemistries and three different thicknesses was fusion-welded by the electron-beam process. Several different preheats were used to obtain 100% penetration and crack-free welds. Cracking susceptability was found to be related to aluminum (Al) content; the higher Al-content material was most susceptable. However, adequate preheat allowed full penetration and crack-free welds to be made in all materials tested. The effect of a post-weld heat treatment on the mechanical properties of these compositions was also determined. The heat treatment produced no significant effect on the ultimate tensile strength. However, the yield strength was decreased and the ductility was increased. These changes are attributed to the formation of AlFeBe 4 and FeBe 11

  3. Susceptibility, likelihood to be diagnosed, worry and fear for contracting Lyme disease.

    Science.gov (United States)

    Fogel, Joshua; Chawla, Gurasees S

    Risk perception and psychological concerns are relevant for understanding how people view Lyme disease. This study investigates the four separate outcomes of susceptibility, likelihood to be diagnosed, worry, and fear for contracting Lyme disease. University students (n=713) were surveyed about demographics, perceived health, Lyme disease knowledge, Lyme disease preventive behaviors, Lyme disease history, and Lyme disease miscellaneous variables. We found that women were associated with increased susceptibility and fear. Asian/Asian-American race/ethnicity was associated with increased worry and fear. Perceived good health was associated with increased likelihood to be diagnosed, worry, and fear. Correct knowledge was associated with increased susceptibility and likelihood to be diagnosed. Those who typically spend a lot of time outdoors were associated with increased susceptibility, likelihood to be diagnosed, worry, and fear. In conclusion, healthcare providers and public health campaigns should address susceptibility, likelihood to be diagnosed, worry, and fear about Lyme disease, and should particularly target women and Asians/Asian-Americans to address any possible misconceptions and/or offer effective coping strategies. Copyright © 2016 King Saud Bin Abdulaziz University for Health Sciences. Published by Elsevier Ltd. All rights reserved.

  4. The results of medical surveillance of beryllium production personnel

    International Nuclear Information System (INIS)

    Koviazin, A.; Urikh, A.; Kovianzina, L.

    2004-01-01

    The report presents results of surveillance of 1836 workers of beryllium production of Ulba Metallurgical Plant JSC with the acute and chronic forms of occupation diseases for 52 years of its operation. The dependence of acute and chronic occupation lesions on the protection degree is shown. It has been found out that, the risk of getting an occupation disease increases sharply at the moments of experimental works and at the time of reconstruction and some other extreme conditions in the production, that is supported by fixed lesions of eye mucous coat, skin and lung lesions. In this case, the readiness of people for their work in deleterious conditions and their personal responsibility for following the regulations of safety occupational standards plays a definite role. Therefore, the issues of protection are of paramount importance in prophylaxis both of acute and chronic exposure to beryllium. An influence of duration of service and occupation on chronic beryllium diseases is shown. A parallel between the lung beryllium disease and skin lesions by insoluble beryllium compounds is drawn for the first time. (author)

  5. The INEL beryllium multiplication experiment

    International Nuclear Information System (INIS)

    Smith, J.R.; King, J.J.

    1991-03-01

    The experiment to measure the multiplication of 14-MeV neutrons in bulk beryllium has been completed. The experiment consists of determining the ratio of 56 Mn activities induced in a large manganese bath by a central 14-MeV neutron source, with and without a beryllium sample surrounding the source. In the manganese bath method a neutron source is placed at the center of a totally-absorbing aqueous solution of MnSo 4 . The capture of neutrons by Mn produces a 56 Mn activity proportional to the emission rate of the source. As applied to the measurement of the multiplication of 14- MeV neutrons in bulk beryllium, the neutron source is a tritium target placed at the end of the drift tube of a small deuteron accelerator. Surrounding the source is a sample chamber. When the sample chamber is empty, the neutrons go directly to the surrounding MnSO 4 solution, and produce a 56 Mn activity proportional to the neutron emission rate. When the chamber contains a beryllium sample, the neutrons first enter the beryllium and multiply through the (n,2n) process. Neutrons escaping from the beryllium enter the bath and produce a 56 Mn activity proportional to the neutron emission rate multiplied by the effective value of the multiplication in bulk beryllium. The ratio of the activities with and without the sample present is proportional to the multiplication value. Detailed calculations of the multiplication and all the systematic effects were made with the Monte Carlo program MCNP, utilizing both the Young and Stewart and the ENDF/B-VI evaluations for beryllium. Both data sets produce multiplication values that are in excellent agreement with the measurements for both raw and corrected values of the multiplication. We conclude that there is not real discrepancy between experimental and calculated values for the multiplication of neutrons in bulk beryllium. 12 figs., 11 tabs., 18 refs

  6. Physicochemical characteristics of aerosol particles generated during the milling of beryllium silicate ores: implications for risk assessment.

    Science.gov (United States)

    Stefaniak, Aleksandr B; Chipera, Steve J; Day, Gregory A; Sabey, Phil; Dickerson, Robert M; Sbarra, Deborah C; Duling, Mathew G; Lawrence, Robert B; Stanton, Marcia L; Scripsick, Ronald C

    2008-01-01

    Inhalation of beryllium dusts generated during milling of ores and cutting of beryl-containing gemstones is associated with development of beryllium sensitization and low prevalence of chronic beryllium disease (CBD). Inhalation of beryllium aerosols generated during primary beryllium production and machining of the metal, alloys, and ceramics are associated with sensitization and high rates of CBD, despite similar airborne beryllium mass concentrations among these industries. Understanding the physicochemical properties of exposure aerosols may help to understand the differential immunopathologic mechanisms of sensitization and CBD and lead to more biologically relevant exposure standards. Properties of aerosols generated during the industrial milling of bertrandite and beryl ores were evaluated. Airborne beryllium mass concentrations among work areas ranged from 0.001 microg/m(3) (beryl ore grinding) to 2.1 microg/m(3) (beryl ore crushing). Respirable mass fractions of airborne beryllium-containing particles were 80% in high-energy input areas (beryl melting, beryl grinding). Particle specific surface area decreased with processing from feedstock ores to drumming final product beryllium hydroxide. Among work areas, beryllium was identified in three crystalline forms: beryl, poorly crystalline beryllium oxide, and beryllium hydroxide. In comparison to aerosols generated by high-CBD risk primary production processes, aerosol particles encountered during milling had similar mass concentrations, generally lower number concentrations and surface area, and contained no identifiable highly crystalline beryllium oxide. One possible explanation for the apparent low prevalence of CBD among workers exposed to beryllium mineral dusts may be that characteristics of the exposure material do not contribute to the development of lung burdens sufficient for progression from sensitization to CBD. In comparison to high-CBD risk exposures where the chemical nature of aerosol

  7. Offshoots from beryllium development programme

    International Nuclear Information System (INIS)

    Sharma, B.P.; Sinha, P.K.

    1995-01-01

    The paper briefly presents extraction and processing of beryllium metal as practiced in the beryllium facilities at Turbhe, New Bombay. These facilities have been set up to meet the indigenous requirements of the metal in space and nuclear science programmes. As offshoot of this beryllium development programme has been the development of a number of pyro and powder metallurgical equipment. Indigenous development of these pieces of equipment has been a professionally rewarding experience. Efforts are now on to promote these equipment for industrial use. (author). 6 refs., 6 figs., 2 tabs

  8. Exploration of genetic susceptibility factors for Parkinson's disease ...

    Indian Academy of Sciences (India)

    1Neurosciences Research Group, School of Medicine and Institute of Genetics, Universidad Nacional de Colombia, Bogotá ... factors for Parkinson's disease in a South American sample. J. Genet. 89, ... In the current work, we report the results of a system- ..... Synaptic dysfunction and oxidative stress in Alzheimer's disease:.

  9. Gene-wide analysis detects two new susceptibility genes for Alzheimer's Disease

    OpenAIRE

    Escott-Price, Valentina; Bellenguez, Céline; Wang, Li-San; Choi, Seung-Hoan; Harold, Denise; Jones, Lesley; Holmans, Peter Alan; Gerrish, Amy; Vedernikov, Alexey; Richards, Alexander; DeStefano, Anita L.; Lambert, Jean-Charles; Ibrahim-Verbaas, Carla A.; Naj, Adam C.; Sims, Rebecca

    2014-01-01

    PUBLISHED BACKGROUND: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over...

  10. Susceptibility to exacerbation in chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Hurst, John R; Vestbo, Jørgen; Anzueto, Antonio

    2010-01-01

    BACKGROUND: Although we know that exacerbations are key events in chronic obstructive pulmonary disease (COPD), our understanding of their frequency, determinants, and effects is incomplete. In a large observational cohort, we tested the hypothesis that there is a frequent-exacerbation phenotype...... of follow-up were 0.85 per person for patients with stage 2 COPD (with stage defined in accordance with Global Initiative for Chronic Obstructive Lung Disease [GOLD] stages), 1.34 for patients with stage 3, and 2.00 for patients with stage 4. Overall, 22% of patients with stage 2 disease, 33% with stage 3...... of COPD that is independent of disease severity. METHODS: We analyzed the frequency and associations of exacerbation in 2138 patients enrolled in the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE) study. Exacerbations were defined as events that led a care provider...

  11. Cardiovascular Disease Susceptibility and Resistance in Circumpolar Inuit Populations

    DEFF Research Database (Denmark)

    Tvermosegaard, Maria; Dahl-Petersen, Inger K; Nielsen, Nina Odgaard

    2015-01-01

    Cardiovascular disease (CVD) is a major public health issue in indigenous populations in the Arctic. These diseases have emerged concomitantly with profound social changes over the past 60 years. The aim of this study was to summarize the literature on CVD risk among Arctic Inuit. Literature...... on prevalence, incidence, and time trends for CVD and its risk factors in Arctic Inuit populations was reviewed. Most evidence supports a similar incidence of coronary heart disease and a higher incidence of cerebrovascular disease among Arctic Inuit than seen in western populations. Factors that may increase...... intake (at least documented in Greenland), and contaminant levels are declining. Although there have been marked socioeconomic and dietary changes, it remains unsolved and to some extent controversial how this may have influenced cardiovascular risk among Arctic Inuit. The increase in life expectancy...

  12. Bipolar disorder: idioms of susceptibility and disease and the role of 'genes' in illness explanations.

    Science.gov (United States)

    Baart, Ingrid; Widdershoven, Guy

    2013-11-01

    This qualitative study explores (1) how members of the Dutch Association for People with Bipolar Disorder explain the affliction of bipolar disorder; (2) the relationship between genetic, environmental and personal factors in these explanations and (3) the relationship between illness explanations, self-management and identity. A total of 40 participants took part in seven different focus group discussions. The results demonstrate that there are two different explanatory idioms, each one centred around an opposing concept, that is, susceptibility and disease. Individuals who construct explanations around the concept of 'disease' attach more importance to 'genes and chemicals' than to environmental components in the onset of the disorder, whereas individuals adhering to the central concept of 'susceptibility' tend to do this much less. Compared with individuals using the 'susceptibility' idiom, those who use a 'disease' idiom tend to observe fewer possibilities for self-management and are less inclined to construct normalcy through a quest for personal growth. Stories of suffering seem more integral to the 'disease' idiom than to the 'susceptibility' idiom. The 'disease' idiom seems less integrated in a contemporary surveillance psychiatric discourse than the 'susceptibility' idiom; however, both vocabularies can offer normative constraints.

  13. Research of beryllium safety issues

    International Nuclear Information System (INIS)

    Longhurst, G.R.; Anderl, R.A.; Dolan, T.J.; Hankins, M.R.; Pawelko, R.J.

    1993-01-01

    Beryllium has been identified as a leading contender for the plasma-facing material in ITER. Its use has some obvious advantages, but there are also a number of safety concerns associated with it. The Idaho National Engineering Laboratory (INEL) has undertaken a number of studies to help resolve some of these issues. One issue is the response of beryllium to neutron irradiation. We have tested samples irradiated in the Advanced Test Reactor (ATR) and are currently preparing to make measurements of the change in mechanical properties of beryllium samples irradiated at elevated temperatures in the Fast Flux Test Facility (FFTF) and the Experimental Breeder Reactor II (EBR-II) at the INEL. Mechanical tests will be conducted at the irradiation temperatures of 375-550 C. Other experiments address permeation and retention of implanted tritium in plasma-sprayed beryllium. In one test the porosity of the material allowed 0.12% of implanted ions and 0.17% of atoms from background gas pressure to pass through the foil with essentially no delay. For comparison, similar tests on fully dense hot-rolled, vacuum melted or sintered powder foils of high purity beryllium showed only 0.001% of implanting ions to pass through the foil, and then only after a delay of several hours. None of the molecular gas appeared to permeate these latter targets. An implication is that plasma-sprayed beryllium may substantially enhance recycling of tritium to the plasma provided it is affixed to a relatively impermeable substrate. (orig.)

  14. Fracture toughness of irradiated beryllium

    International Nuclear Information System (INIS)

    Beeston, J.M.

    1978-01-01

    The fracture toughness of nuclear grade hot-pressed beryllium upon irradiation to fluences of 3.5 to 5.0 x 10 21 n/cm 2 , E greater than 1 MeV, was determined. Procedures and data relating to a round-robin test contributing to a standard ASTM method for unirradiated beryllium are discussed in connection with the testing of irradiated specimens. A porous grade of beryllium was also irradiated and tested, thereby enabling some discrimination between the models for describing the fracture toughness behavior of porous beryllium. The fracture toughness of unirradiated 2 percent BeO nuclear grade beryllium was 12.0 MPa m/sup 1 / 2 /, which was reduced 60 percent upon irradiation at 339 K and testing at 295 K. The fracture toughness of a porous grade of beryllium was 13.1 MPa m/sup 1 / 2 /, which was reduced 68 percent upon irradiation and testing at the same conditions. Reasons for the reduction in fracture toughness upon irradiation are discussed

  15. Beryllium technology workshop, Clearwater Beach, Florida, November 20, 1991

    International Nuclear Information System (INIS)

    Longhurst, G.R.

    1991-12-01

    This report discusses the following topics: beryllium in the ITER blanket; mechanical testing of irradiated beryllium; tritium release measurements on irradiated beryllium; beryllium needs for plasma-facing components; thermal conductivity of plasma sprayed beryllium; beryllium research at the INEL; Japanese beryllium research activities for in-pile mockup tests on ITER; a study of beryllium bonding of copper alloy; new production technologies; thermophysical properties of a new ingot metallurgy beryllium product line; implications of beryllium:steam interactions in fusion reactors; and a test program for irradiation embrittlement of beryllium at JET

  16. Beryllium technology workshop, Clearwater Beach, Florida, November 20, 1991

    Energy Technology Data Exchange (ETDEWEB)

    Longhurst, G.R.

    1991-12-01

    This report discusses the following topics: beryllium in the ITER blanket; mechanical testing of irradiated beryllium; tritium release measurements on irradiated beryllium; beryllium needs for plasma-facing components; thermal conductivity of plasma sprayed beryllium; beryllium research at the INEL; Japanese beryllium research activities for in-pile mockup tests on ITER; a study of beryllium bonding of copper alloy; new production technologies; thermophysical properties of a new ingot metallurgy beryllium product line; implications of beryllium:steam interactions in fusion reactors; and a test program for irradiation embrittlement of beryllium at JET.

  17. The SPINK gene family and celiac disease susceptibility

    NARCIS (Netherlands)

    Wapenaar, M.C.; Monsuur, A.J.; Poell, J.; Slot, R. van 't; Meijer, J.W.R.; Meijer, G.A.; Mulder, C.J.; Mearin, M.L.; Wijmenga, C.

    2007-01-01

    The gene family of serine protease inhibitors of the Kazal type (SPINK) are functional and positional candidate genes for celiac disease (CD). Our aim was to assess the gut mucosal gene expression and genetic association of SPINK1, -2, -4, and -5 in the Dutch CD population. Gene expression was

  18. The SPINK gene family and celiac disease susceptibility

    NARCIS (Netherlands)

    Wapenaar, Martin C.; Monsuur, Alienke J.; Poell, Jos; Slot, Ruben Van 't; Meijer, Jos W. R.; Meijer, Gerrit A.; Mulder, Chris J.; Mearin, Maria Luisa; Wijmenga, Cisca

    The gene family of serine protease inhibitors of the Kazal type (SPINK) are functional and positional candidate genes for celiac disease (CD). Our aim was to assess the gut mucosal gene expression and genetic association of SPINK1, -2, -4, and -5 in the Dutch CD population. Gene expression was

  19. Susceptibility to exacerbation in chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Hurst, John R; Vestbo, Jørgen; Anzueto, Antonio

    2010-01-01

    be predicted on the basis of the patient's recall of previous treated events. In addition to its association with more severe disease and prior exacerbations, the phenotype was independently associated with a history of gastroesophageal reflux or heartburn, poorer quality of life, and elevated white-cell count...

  20. Beryllium R and D for blanket application

    Energy Technology Data Exchange (ETDEWEB)

    Dalle Donne, M.; Scaffidi-Argentina, F. [Forschungszentrum Karlsruhe GmbH Technik und Umwelt (Germany). Inst. fuer Neutronenphysik und Reaktortechnik; Longhurst, G.R. [Idaho National Engineering Lab., Idaho Falls (United States); Kawamura, H. [Japan Atomic Energy Research Inst., Oarai, Ibaraki (Japan). Oarai Research Establishment

    1998-10-01

    The paper describes the main problems and the R and D for the beryllium to be used as neutron multiplier in blankets. As the four ITER partners propose to use beryllium in the form of pebbles for their DEMO relevant blankets (only the Russians consider the porous beryllium option as an alternative) and the ITER breeding blanket will use beryllium pebbles as well, the paper is mainly based on beryllium pebbles. Also the work on the chemical reactivity of fully dense and porous beryllium in contact with water steam is described, due to the safety importance of this point. (orig.) 29 refs.

  1. Beryllium R and D for blanket application

    International Nuclear Information System (INIS)

    Dalle Donne, M.; Scaffidi-Argentina, F.; Kawamura, H.

    1998-01-01

    The paper describes the main problems and the R and D for the beryllium to be used as neutron multiplier in blankets. As the four ITER partners propose to use beryllium in the form of pebbles for their DEMO relevant blankets (only the Russians consider the porous beryllium option as an alternative) and the ITER breeding blanket will use beryllium pebbles as well, the paper is mainly based on beryllium pebbles. Also the work on the chemical reactivity of fully dense and porous beryllium in contact with water steam is described, due to the safety importance of this point. (orig.)

  2. Beryllium R&D for blanket application

    Science.gov (United States)

    Donne, M. Dalle; Longhurst, G. R.; Kawamura, H.; Scaffidi-Argentina, F.

    1998-10-01

    The paper describes the main problems and the R&D for the beryllium to be used as neutron multiplier in blankets. As the four ITER partners propose to use beryllium in the form of pebbles for their DEMO relevant blankets (only the Russians consider the porous beryllium option as an alternative) and the ITER breeding blanket will use beryllium pebbles as well, the paper is mainly based on beryllium pebbles. Also the work on the chemical reactivity of fully dense and porous beryllium in contact with water steam is described, due to the safety importance of this point.

  3. Degree of host susceptibility in the initial disease outbreak influences subsequent epidemic spread

    Science.gov (United States)

    Severns, Paul M.; Estep, Laura K.; Sackett, Kathryn E.; Mundt, Christopher C.

    2014-01-01

    Summary Disease epidemics typically begin as an outbreak of a relatively small, spatially explicit population of infected individuals (focus), in which disease prevalence increases and rapidly spreads into the uninfected, at-risk population. Studies of epidemic spread typically address factors influencing disease spread through the at-risk population, but the initial outbreak may strongly influence spread of the subsequent epidemic.We initiated wheat stripe rust Puccinia striiformis f. sp. tritici epidemics to assess the influence of the focus on final disease prevalence when the degree of disease susceptibility differed between the at-risk and focus populations.When the focus/at-risk plantings consisted of partially genetic resistant and susceptible cultivars, final disease prevalence was statistically indistinguishable from epidemics produced by the focus cultivar in monoculture. In these experimental epidemics, disease prevalence was not influenced by the transition into an at-risk population that differed in disease susceptibility. Instead, the focus appeared to exert a dominant influence on the subsequent epidemic.Final disease prevalence was not consistently attributable to either the focus or the at-risk population when focus/at-risk populations were planted in a factorial set-up with a mixture (~28% susceptible and 72% resistant) and susceptible individuals. In these experimental epidemics, spatial heterogeneity in disease susceptibility within the at-risk population appeared to counter the dominant influence of the focus.Cessation of spore production from the focus (through fungicide/glyphosate application) after 1.3 generations of stripe rust spread did not reduce final disease prevalence, indicating that the focus influence on disease spread is established early in the epidemic.Synthesis and applications. Our experiments indicated that outbreak conditions can be highly influential on epidemic spread, even when disease resistance in the at-risk population

  4. The BTNL2 G16071A gene polymorphism increases granulomatous disease susceptibility

    Science.gov (United States)

    Tong, Xiang; Ma, Yao; Niu, Xundong; Yan, Zhipeng; Liu, Sitong; Peng, Bo; Peng, Shifeng; Fan, Hong

    2016-01-01

    Abstract Objective: The butyrophilin-like 2 (BTNL2) G16071A gene polymorphism has been implicated in the susceptibility to granulomatous diseases, but the results were inconclusive. The objective of the current study was to precisely explore the relationship between BTNL2 G16071A gene polymorphism and granulomatous disease susceptibility by the meta-analysis including false-positive report probability (FPRP) test. Methods: A systematic literature search in the PubMed, Embase, and Wanfang databases, China National Knowledge Internet, and commercial Internet search engines was conducted to identify studies published up to April 1, 2016. The odds ratio (OR) with 95% confidence interval (CI) was used to assess the effect size. Statistical analysis was conducted using the STATA 12.0 software and FPRP test sheet. Results: In total, all 4324 cases and 4386 controls from 14 eligible studies were included in the current meta-analysis. By the overall meta-analysis, we found a significant association between BTNL2 G16071A gene polymorphism and granulomatous disease susceptibility (A vs G: OR = 1.25, 95% CI = 1.07–1.45, P = 0.005). The meta-regression analyses showed that a large proportion of the between-study heterogeneity was significantly attributed to the ethnicity (A vs G, P = 0.013) and the types of granulomatous diseases (A vs G, P = 0.002). By the subgroup meta-analysis, the BTNL2 G16071A gene polymorphism was associated with granulomatous disease susceptibility in Caucasians (A vs G: OR = 1.37, 95% CI = 1.18–1.58, P susceptibility (A vs G: OR = 1.52, 95% CI = 1.39–1.66, P susceptibility (A vs G, FPRP susceptibility among Caucasians (A vs G, FPRP susceptibility, especially increasing the sarcoidosis susceptibility. In addition, the polymorphism may be greatly associated with likelihood of granulomatous diseases among Caucasians. PMID:27472712

  5. Safe waste management practices in beryllium facilities

    International Nuclear Information System (INIS)

    Bhat, P.N.; Soundararajan, S.; Sharma, D.N.

    2012-01-01

    Beryllium, an element with the atomic symbol Be, atomic number 4, has very high stiffness to weight ratio and low density. It has good electrical conductive properties with low coefficient of thermal expansion. These properties make the metal beryllium very useful in varied technological endeavours, However, beryllium is recognised as one of the most toxic metals. Revelation of toxic effects of beryllium resulted in institution of stringent health and safety practices in beryllium handling facilities. The waste generated in such facilities may contain traces of beryllium. Any such waste should be treated as toxic waste and suitable safe waste management practices should be adopted. By instituting appropriate waste management practice and through a meticulously incorporated safety measures and continuous surveillance exercised in such facilities, total safety can be ensured. This paper broadly discusses health hazards posed by beryllium and safe methods of management of beryllium bearing wastes. (author)

  6. TGF-b2 induction regulates invasiveness of Theileria-transformed leukocytes and disease susceptibility.

    Directory of Open Access Journals (Sweden)

    Marie Chaussepied

    2010-11-01

    Full Text Available Theileria parasites invade and transform bovine leukocytes causing either East Coast fever (T. parva, or tropical theileriosis (T. annulata. Susceptible animals usually die within weeks of infection, but indigenous infected cattle show markedly reduced pathology, suggesting that host genetic factors may cause disease susceptibility. Attenuated live vaccines are widely used to control tropical theileriosis and attenuation is associated with reduced invasiveness of infected macrophages in vitro. Disease pathogenesis is therefore linked to aggressive invasiveness, rather than uncontrolled proliferation of Theileria-infected leukocytes. We show that the invasive potential of Theileria-transformed leukocytes involves TGF-b signalling. Attenuated live vaccine lines express reduced TGF-b2 and their invasiveness can be rescued with exogenous TGF-b. Importantly, infected macrophages from disease susceptible Holstein-Friesian (HF cows express more TGF-b2 and traverse Matrigel with great efficiency compared to those from disease-resistant Sahiwal cattle. Thus, TGF-b2 levels correlate with disease susceptibility. Using fluorescence and time-lapse video microscopy we show that Theileria-infected, disease-susceptible HF macrophages exhibit increased actin dynamics in their lamellipodia and podosomal adhesion structures and develop more membrane blebs. TGF-b2-associated invasiveness in HF macrophages has a transcription-independent element that relies on cytoskeleton remodelling via activation of Rho kinase (ROCK. We propose that a TGF-b autocrine loop confers an amoeboid-like motility on Theileria-infected leukocytes, which combines with MMP-dependent motility to drive invasiveness and virulence.

  7. Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis

    Science.gov (United States)

    Hinks, Anne; Eyre, Steve; Ke, Xiayi; Barton, Anne; Martin, Paul; Flynn, Edward; Packham, Jon; Worthington, Jane; Thomson, Wendy

    2010-01-01

    Background Genome-wide association studies (GWAS) have been extremely successful in the search for susceptibility risk factors for complex genetic autoimmune diseases. As more studies are published, evidence is emerging of considerable overlap of loci between these diseases. In juvenile idiopathic arthritis (JIA), another complex genetic autoimmune disease, the strategy of using information from autoimmune disease GWAS or candidate gene studies to help in the search for novel JIA susceptibility loci has been successful, with confirmed association with two genes, PTPN22 and IL2RA. Rheumatoid arthritis (RA) is an autoimmune disease that shares similar clinical and pathological features with JIA and, therefore, recently identified confirmed RA susceptibility loci are also excellent JIA candidate loci. Objective To determine the overlap of disease susceptibility loci for RA and JIA. Methods Fifteen single nucleotide polymorphisms (SNPs) at nine RA-associated loci were genotyped in Caucasian patients with JIA (n=1054) and controls (n=3531) and tested for association with JIA. Allele and genotype frequencies were compared between cases and controls using the genetic analysis software, PLINK. Results Two JIA susceptibility loci were identified, one of which was a novel JIA association (STAT4) and the second confirmed previously published associations of the TRAF1/C5 locus with JIA. Weak evidence of association of JIA with three additional loci (Chr6q23, KIF5A and PRKCQ) was also obtained, which warrants further investigation. Conclusion All these loci are good candidates in view of the known pathogenesis of JIA, as genes within these regions (TRAF1, STAT4, TNFAIP3, PRKCQ) are known to be involved in T-cell receptor signalling or activation pathways. PMID:19674979

  8. Impact of Maternal Exercise during Pregnancy on Offspring Chronic Disease Susceptibility.

    Science.gov (United States)

    Blaize, A Nicole; Pearson, Kevin J; Newcomer, Sean C

    2015-10-01

    Maternal behaviors during pregnancy have been reported to impact offspring health in adulthood. In this article we explore the novel hypothesis that exercise during pregnancy can protect against chronic disease susceptibility in the offspring. To date, research has demonstrated that improvements in metabolic outcomes, cardiovascular risk, and cancer can occur in response to maternal exercise during pregnancy.

  9. Mycobacterium abscessus subsp. abscessus Lung Disease: Drug Susceptibility Testing in Sputum Culture Negative Conversion

    Directory of Open Access Journals (Sweden)

    Takehiko Kobayashi

    2018-01-01

    Full Text Available Background: Among Mycobacterium abscessus complex infections, patients with M. abscessus subsp. abscessus (MAA lung disease are difficult to treat and no standard therapy has been established. Few reports have investigated the drug susceptibility of these strains. We retrospectively investigated how in vitro drug susceptibility testing (DST of MAA affects the induction of sputum conversion using pharmacotherapy. Methods: Patients with MAA lung disease diagnosed and treated between 2010 and 2014 at our hospital were enrolled and divided into Group A (sputum conversion without relapse within 1 year and Group B (persistent positive cultured or negative conversion with relapse. MAA was identified in M. abscessus using sequence with genotyping, and DST of MAA was performed. Results: We assessed 23 patients (9 males and 14 females. There were 8 patients in Group A and 15 in Group B. Higher prevalence of susceptible isolates for clarithromycin (CAM susceptibility on day 14 was noted in Group A than in Group B (P = 0.03 and no significant difference observed in the two groups for other drugs. Conclusions: In vitro DST of MAA, especially CAM susceptibility on day 14, affected the results of negative conversion. No other drugs were found to affect sputum culture negative conversion.

  10. Association between TYK2 polymorphisms and susceptibility to autoimmune rheumatic diseases: a meta-analysis.

    Science.gov (United States)

    Lee, Y H; Bae, S-C

    2016-10-01

    This study aimed to explore whether TYK2 polymorphisms are associated with susceptibility to autoimmune rheumatic diseases. We conducted a meta-analysis on the association between TYK2 polymorphisms and autoimmune rheumatic diseases. Twelve studies with a total of 16,335 patients and 30,065 controls were included in the meta-analysis. Meta-analysis revealed an association between rheumatic diseases and the 2 allele of the TYK2 rs2304256 (OR = 0.885, 95% CI = 0.802-0.978, p = 0.016). Furthermore, stratification by ethnicity identified a significant association between this polymorphism and rheumatic diseases in Caucasians (OR = 0.822, 95% CI = 0.706-0.889, p = 9.5 × 10(-7)), but not in Asians (OR = 1.127, 95% CI = 0.835-1.522, p = 0.434). Meta-analysis by rheumatic disease type revealed a significant association between the 2 allele of the TYK2 rs2304256 and SLE in Caucasians (OR = 0.737, 95% CI = 0.673-0.808, p rheumatic diseases in Caucasians (OR = 0.812, 95% CI = 0.661-0.997, p = 0.046) but not in Asians. Interestingly, the rs280519 polymorphism was significantly associated with susceptibility to SLE both in Caucasians and Asians. However, no associations were found between the rs12720270, rs280500, rs280523 and rs8108236 polymorphisms and susceptibility to rheumatic diseases. This meta-analysis demonstrates that the TYK2 rs2304256 and rs12720356 polymorphisms are associated with susceptibility to rheumatic diseases, rs2304256 polymorphism is associated with SLE in Caucasians, and rs280519 polymorphism is associated with SLE in Caucasians and Asians. © The Author(s) 2016.

  11. The die is cast: arsenic exposure in early life and disease susceptibility.

    Science.gov (United States)

    Thomas, David J

    2013-12-16

    Early life exposure to arsenic in humans and mice produces similar patterns of disease in later life. Given the long interval between exposure and effect, epigenetic effects of early life exposure to arsenic may account for the development and progression of disease in both species. Mode of action and dosimetric studies in the mouse may help assess the role of age at exposure as a factor in susceptibility to the toxic and carcinogenic effects of arsenic in humans.

  12. Differential susceptibility according to gender in the association between air pollution and mortality from respiratory diseases

    OpenAIRE

    Oliveira,Marcio Sacramento de; Leon,Antônio Ponce de; Mattos,Inês Echenique; Koifman,Sérgio

    2011-01-01

    This study analyzed the association between air pollution and deaths from respiratory diseases, considering differential susceptibility according to gender. The authors used daily deaths from respiratory diseases (ICD-10, J00-J99), PM10, SO2, and O3 levels, and meteorological indicators in Volta Redonda, Rio de Janeiro State, Brazil, from January 2002 to December 2006. The association was estimated by Poisson regression using generalized additive models, where the increase in risk of deaths f...

  13. Hydrogen transport behavior of beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Anderl, R.A.; Hankins, M.R.; Longhurst, G.R.; Pawelko, R.J. (Idaho National Engineering Lab., EG and G Idaho, Inc., Idaho Falls, ID (United States)); Macaulay-Newcombe, R.G. (Dept. of Engineering Physics, Univ. Hamilton, ON (Canada))

    1992-12-01

    Beryllium is being evaluated for use as a plasma-facing material in the International Thermonuclear Experimental Reactor (ITER). One concern in the evaluation is the retention and permeation of tritium implanted into the plasma-facing surface. We performed laboratory-scale studies to investigate mechanisms that influence hydrogen transport and retention in beryllium foil specimens of rolled powder metallurgy product and rolled ingot cast beryllium. Specimen characterization was accomplished using scanning electron microscopy. Auger electron spectroscopy, and Rutherford backscattering spectrometry (RBS) techniques. Hydrogen transport was investigated using ion-beam permeation experiments and nuclear reaction analysis (NRA). Results indicate that trapping plays a significant role in permeation, re-emission, and retention, and that surface processes at both upstream and downstream surfaces are also important. (orig.).

  14. High-strength beryllium block

    International Nuclear Information System (INIS)

    Pinto, N.P.; Keith, G.H.

    1977-01-01

    Beryllium billets hot isopressed using fine powder of high purity have exceptionally attractive properties; average tensile ultimate, 0.2% offset yield strength and elongation are 590 MPa, 430 MPa and 4.0% respectively. Properties are attributed to the fine grain size (about 4.0 μm average diameter) and the relatively low levels of BeO present as fine, well-dispersed particles. Dynamic properties, e.g., fracture toughness, are similar to those of standard grade, high-purity beryllium. The modulus of beryllium is retained to very high stress levels, and the microyield stress or precision elastic limit is higher than for other grades, including instrument grades. Limited data for billets made from normal-purity fine powders show similar room temperature properties. (author)

  15. Spread of Ebola disease with susceptible exposed infected isolated recovered (SEIIhR) model

    Science.gov (United States)

    Azizah, Afina; Widyaningsih, Purnami; Retno Sari Saputro, Dewi

    2017-06-01

    Ebola is a deadly infectious disease and has caused an epidemic on several countries in West Africa. Mathematical modeling to study the spread of Ebola disease has been developed, including through models susceptible infected removed (SIR) and susceptible exposed infected removed (SEIR). Furthermore, susceptible exposed infected isolated recovered (SEIIhR) model has been derived. The aims of this research are to derive SEIIhR model for Ebola disease, to determine the patterns of its spread, to determine the equilibrium point and stability of the equilibrium point using phase plane analysis, and also to apply the SEIIhR model on Ebola epidemic in Sierra Leone in 2014. The SEIIhR model is a differential equation system. Pattern of ebola disease spread with SEIIhR model is solution of the differential equation system. The equilibrium point of SEIIhR model is unique and it is a disease-free equilibrium point that stable. Application of the model is based on the data Ebola epidemic in Sierra Leone. The free-disease equilibrium point (Se; Ee; Ie; Ihe; Re )=(5743865, 0, 0, 0, 0) is stable.

  16. Spread of Ebola disease with susceptible exposed infected isolated recovered (SEIIhR) model

    International Nuclear Information System (INIS)

    Azizah, Afina; Widyaningsih, Purnami; Saputro, Dewi Retno Sari

    2017-01-01

    Ebola is a deadly infectious disease and has caused an epidemic on several countries in West Africa. Mathematical modeling to study the spread of Ebola disease has been developed, including through models susceptible infected removed (SIR) and susceptible exposed infected removed (SEIR). Furthermore, susceptible exposed infected isolated recovered (SEII h R) model has been derived. The aims of this research are to derive SEII h R model for Ebola disease, to determine the patterns of its spread, to determine the equilibrium point and stability of the equilibrium point using phase plane analysis, and also to apply the SEII h R model on Ebola epidemic in Sierra Leone in 2014. The SEII h R model is a differential equation system. Pattern of ebola disease spread with SEII h R model is solution of the differential equation system. The equilibrium point of SEII h R model is unique and it is a disease-free equilibrium point that stable. Application of the model is based on the data Ebola epidemic in Sierra Leone. The free-disease equilibrium point ( S e ; E e ; I e ; I he ; R e )=(5743865, 0, 0, 0, 0) is stable. (paper)

  17. Cause of pitting in beryllium

    International Nuclear Information System (INIS)

    Kershaw, R.P.

    1982-01-01

    Light microscopy, bare-film radiography, secondary ion mass spectroscopy, electron microprobe and physical testing were used to examine beryllium specimens exhibiting a stratified, pitted, pattern after chemical milling. The objective was to find the cause of this pattern. Specimens were found to have voids in excess of density specification allowances. These voids are attributed, at least in part, to the sublimation of beryllium fluoride during the vacuum hot pressing operation. The origin of the pattern is attributed to these voids and etching out of fines and associated impurities. Hot isostatic pressing with a subsequent heat treatment close residual porosity and dispersed impurities enough to correct the problem

  18. Bioenvironmental Engineering Guide to Beryllium

    Science.gov (United States)

    2017-07-26

    Dermal contact with beryllium can result in dermatitis resembling first- or second-degree burns and skin granulomas [7]. Beryllium dust, fume...minute short-term exposure limit (STEL) of 2.0 µg/m3 [§1910.1024(c)(2) & §1926.1124(c)(2)], and added provisions to prevent skin contact [§1910.1024(b...document you want more information, contact the Environmental, Safety, and Occupational Health (ESOH) Service Center at DSN 798-3764, 1-888-232-ESOH (3764

  19. Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease

    DEFF Research Database (Denmark)

    Baillie, J. Kenneth; Bretherick, Andrew; Haley, Christopher S.

    2018-01-01

    Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns of transcrip...

  20. Evolution, revolution and heresy in the genetics of infectious disease susceptibility

    Science.gov (United States)

    Hill, Adrian V. S.

    2012-01-01

    Infectious pathogens have long been recognized as potentially powerful agents impacting on the evolution of human genetic diversity. Analysis of large-scale case–control studies provides one of the most direct means of identifying human genetic variants that currently impact on susceptibility to particular infectious diseases. For over 50 years candidate gene studies have been used to identify loci for many major causes of human infectious mortality, including malaria, tuberculosis, human immunodeficiency virus/acquired immunodeficiency syndrome, bacterial pneumonia and hepatitis. But with the advent of genome-wide approaches, many new loci have been identified in diverse populations. Genome-wide linkage studies identified a few loci, but genome-wide association studies are proving more successful, and both exome and whole-genome sequencing now offer a revolutionary increase in power. Opinions differ on the extent to which the genetic component to common disease susceptibility is encoded by multiple high frequency or rare variants, and the heretical view that most infectious diseases might even be monogenic has been advocated recently. Review of findings to date suggests that the genetic architecture of infectious disease susceptibility may be importantly different from that of non-infectious diseases, and it is suggested that natural selection may be the driving force underlying this difference. PMID:22312051

  1. Evolution, revolution and heresy in the genetics of infectious disease susceptibility.

    Science.gov (United States)

    Hill, Adrian V S

    2012-03-19

    Infectious pathogens have long been recognized as potentially powerful agents impacting on the evolution of human genetic diversity. Analysis of large-scale case-control studies provides one of the most direct means of identifying human genetic variants that currently impact on susceptibility to particular infectious diseases. For over 50 years candidate gene studies have been used to identify loci for many major causes of human infectious mortality, including malaria, tuberculosis, human immunodeficiency virus/acquired immunodeficiency syndrome, bacterial pneumonia and hepatitis. But with the advent of genome-wide approaches, many new loci have been identified in diverse populations. Genome-wide linkage studies identified a few loci, but genome-wide association studies are proving more successful, and both exome and whole-genome sequencing now offer a revolutionary increase in power. Opinions differ on the extent to which the genetic component to common disease susceptibility is encoded by multiple high frequency or rare variants, and the heretical view that most infectious diseases might even be monogenic has been advocated recently. Review of findings to date suggests that the genetic architecture of infectious disease susceptibility may be importantly different from that of non-infectious diseases, and it is suggested that natural selection may be the driving force underlying this difference.

  2. Inhalation hazards from machining beryllium metal

    International Nuclear Information System (INIS)

    Hoover, M.D.; Finch, G.L.; Mewhinney, J.A.; Eidson, A.F.

    1987-01-01

    Beryllium metal has special nuclear and structural properties that make it useful for applications in fission and fusion reactor designs. Unfortunately, concerns for its toxicity have made designers wary of using beryllium metal. The work being reported here was undertaken to characterize the aerosols produced by two very common operations performed during preparation or modification of components for use in reactor systems: sawing and milling of beryllium metal. The study also covered beryllium metal alloys to allow comparison. Information from this study is to enable better assessments of the risk of using beryllium metal in reactor designs

  3. Heterozygote loss of ACE2 is sufficient to increase the susceptibility to heart disease.

    Science.gov (United States)

    Wang, Wang; Patel, Vaibhav B; Parajuli, Nirmal; Fan, Dong; Basu, Ratnadeep; Wang, Zuocheng; Ramprasath, Tharmarajan; Kassiri, Zamaneh; Penninger, Josef M; Oudit, Gavin Y

    2014-08-01

    Angiotensin-converting enzyme 2 (ACE2) metabolizes Ang II into Ang 1-7 thereby negatively regulating the renin-angiotensin system. However, heart disease in humans and in animal models is associated with only a partial loss of ACE2. ACE2 is an X-linked gene; and as such, we tested the clinical relevance of a partial loss of ACE2 by using female ACE2(+/+) (wildtype) and ACE2(+/-) (heterozygote) mice. Pressure overload in ACE2(+/-) mice resulted in greater LV dilation and worsening systolic and diastolic dysfunction. These changes were associated with increased myocardial fibrosis, hypertrophy, and upregulation of pathological gene expression. In response to Ang II infusion, there was increased NADPH oxidase activity and myocardial fibrosis resulting in the worsening of Ang II-induced diastolic dysfunction with a preserved systolic function. Ang II-mediated cellular effects in cultured adult ACE2(+/-) cardiomyocytes and cardiofibroblasts were exacerbated. Ang II-mediated pathological signaling worsened in ACE2(+/-) hearts characterized by an increase in the phosphorylation of ERK1/2 and JNK1/2 and STAT-3 pathways. The ACE2(+/-) mice showed an exacerbated pressor response with increased vascular fibrosis and stiffness. Vascular superoxide and nitrotyrosine levels were increased in ACE2(+/-) vessels consistent with increased vascular oxidative stress. These changes occurred with increased renal fibrosis and superoxide production. Partial heterozygote loss of ACE2 is sufficient to increase the susceptibility to heart disease secondary to pressure overload and Ang II infusion. Heart disease in humans with idiopathic dilated cardiomyopathy is associated with a partial loss of ACE2. Heterozygote female ACE2 mutant mice showed enhanced susceptibility to pressure overload-induced heart disease. Heterozygote female ACE2 mutant mice showed enhanced susceptibility to Ang II-induced heart and vascular diseases. Partial loss of ACE2 is sufficient to enhance the susceptibility to

  4. Estimating chronic wasting disease susceptibility in cervids using real-time quaking-induced conversion.

    Science.gov (United States)

    Haley, Nicholas J; Rielinger, Rachel; Davenport, Kristen A; O'Rourke, Katherine; Mitchell, Gordon; Richt, Jürgen A

    2017-11-01

    In mammals, susceptibility to prion infection is primarily modulated by the host's cellular prion protein (PrP C ) sequence. In the sheep scrapie model, a graded scale of susceptibility has been established both in vivo and in vitro based on PrP C amino acids 136, 154 and 171, leading to global breeding programmes to reduce the prevalence of scrapie in sheep. Chronic wasting disease (CWD) resistance in cervids is often characterized as decreased prevalence and/or protracted disease progression in individuals with specific alleles; at present, no PrP C allele conferring absolute resistance in cervids has been identified. To model the susceptibility of various naturally occurring and hypothetical cervid PrP C alleles in vitro, we compared the amplification rates and amyloid extension efficiencies of eight distinct CWD isolates in recombinant cervid PrP C substrates using real-time quaking-induced conversion. We hypothesized that the in vitro conversion characteristics of these isolates in cervid substrates would correlate to in vivo susceptibility - permitting susceptibility prediction for the rare alleles found in nature. We also predicted that hypothetical alleles with multiple resistance-associated codons would be more resistant to in vitro conversion than natural alleles with a single resistant codon. Our studies demonstrate that in vitro conversion metrics align with in vivo susceptibility, and that alleles with multiple amino acid substitutions, each influencing resistance independently, do not necessarily contribute additively to conversion resistance. Importantly, we found that the naturally occurring whitetail deer QGAK substrate exhibited the slowest amplification rate among those evaluated, suggesting that further investigation of this allele and its resistance in vivo is warranted.

  5. Optimization of beryllium for fusion blanket applications

    International Nuclear Information System (INIS)

    Billone, M.C.

    1993-01-01

    The primary function of beryllium in a fusion reactor blanket is neutron multiplication to enhance tritium breeding. However, because heat, tritium and helium will be generated in and/or transported through beryllium and because the beryllium is in contact with other blanket materials, the thermal, mechanical, tritium/helium and compatibility properties of beryllium are important in blanket design. In particular, tritium retention during normal operation and release during overheating events are safety concerns. Accommodating beryllium thermal expansion and helium-induced swelling are important issues in ensuring adequate lifetime of the structural components adjacent to the beryllium. Likewise, chemical/metallurgical interactions between beryllium and structural components need to be considered in lifetime analysis. Under accident conditions the chemical interaction between beryllium and coolant and breeding materials may also become important. The performance of beryllium in fusion blanket applications depends on fabrication variables and operational parameters. First the properties database is reviewed to determine the state of knowledge of beryllium performance as a function of these variables. Several design calculations are then performed to indicate ranges of fabrication and operation variables that lead to optimum beryllium performance. Finally, areas for database expansion and improvement are highlighted based on the properties survey and the design sensitivity studies

  6. Reactivity test between beryllium and copper

    International Nuclear Information System (INIS)

    Kawamura, H.; Kato, M.

    1995-01-01

    Beryllium has been expected for using as plasma facing material on ITER. And, copper alloy has been proposed as heat sink material behind plasma facing components. Therefore, both materials must be joined. However, the elementary process of reaction between beryllium and copper alloy does not clear in detail. For example, other authors reported that beryllium reacted with copper at high temperature, but it was not obvious about the generation of reaction products and increasing of the reaction layer. In the present work, from this point, for clarifying the elementary process of reaction between beryllium and copper, the out-of-pile compatibility tests were conducted with diffusion couples of beryllium and copper which were inserted in the capsule filled with high purity helium gas (6N). Annealing temperatures were 300, 400, 500, 600 and 700 degrees C, and annealing periods were 100, 300 and 1000h. Beryllium specimens were hot pressed beryllium, and copper specimens were OFC (Oxygen Free Copper)

  7. Worker Environment Beryllium Characterization Study

    International Nuclear Information System (INIS)

    2009-01-01

    This report summarizes the conclusion of regular monitoring of occupied buildings at the Nevada Test Site and North Las Vegas facility to determine the extent of beryllium (Be) contamination in accordance with Judgment of Needs 6 of the August 14, 2003, 'Minnema Report.'

  8. Worker Environment Beryllium Characterization Study

    Energy Technology Data Exchange (ETDEWEB)

    NSTec Environment, Safety, Health & Quality

    2009-12-28

    This report summarizes the conclusion of regular monitoring of occupied buildings at the Nevada Test Site and North Las Vegas facility to determine the extent of beryllium (Be) contamination in accordance with Judgment of Needs 6 of the August 14, 2003, “Minnema Report.”

  9. ANTIMICROBIAL SUSCEPTIBILITY PROFILE OF MICROBIAL PATHOGENS ISOLATED FROM CALVES WITH RESPIRATORY DISEASES

    OpenAIRE

    George Cosmin Nadas; Flore Chirila; Cosmina Bouari; Nicodim Fit

    2016-01-01

    Introduction: Respiratory disease in calves is an actual problem, a major cause of economic losses due to mortality, growth delay and improper development. These conditions are frequent in calves due to the weaning stress, transport and environmental changes. Aims: The aim of this study was the isolation of bacteria from 30 calves with respiratory disorders and their antibiotic susceptibility testing. Materials and methods: Samples were collected from calves with respiratory disorders...

  10. Genetic susceptibility to infectious disease: lessons from mouse models of leishmaniasis

    Czech Academy of Sciences Publication Activity Database

    Lipoldová, Marie; Demant, P.

    2006-01-01

    Roč. 7, č. 4 (2006), s. 294-305 ISSN 1471-0056 R&D Projects: GA ČR(CZ) GA310/03/1381 Grant - others:Howard Hughes Medical Institute(US) HHMI55000323 Institutional research plan: CEZ:AV0Z50520514 Keywords : leishmaniasis * susceptibility to infectious disease * modifying genes Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 22.947, year: 2006

  11. THE MITOCHONDRIAL PARADIGM FOR CARDIOVASCULAR DISEASE SUSCEPTIBILITY AND CELLULAR FUNCTION: A COMPLEMENTARY CONCEPT TO MENDELIAN GENETICS

    OpenAIRE

    Kryzwanski, David M.; Moellering, Douglas; Fetterman, Jessica L.; Dunham-Snary, Kimberly J.; Sammy, Melissa J.; Ballinger, Scott W.

    2011-01-01

    While there is general agreement that cardiovascular disease (CVD) development is influenced by a combination of genetic, environmental, and behavioral contributors, the actual mechanistic basis of how these factors initiate or promote CVD development in some individuals while others with identical risk profiles do not, is not clearly understood. This review considers the potential role for mitochondrial genetics and function in determining CVD susceptibility from the standpoint that the orig...

  12. CD28/CTLA-4/ICOS haplotypes confers susceptibility to Graves' disease and modulates clinical phenotype of disease.

    Science.gov (United States)

    Pawlak-Adamska, Edyta; Frydecka, Irena; Bolanowski, Marek; Tomkiewicz, Anna; Jonkisz, Anna; Karabon, Lidia; Partyka, Anna; Nowak, Oskar; Szalinski, Marek; Daroszewski, Jacek

    2017-01-01

    Graves' disease, an autoimmune disease with heterogeneous symptoms including Graves' orbitopathy, has a combined genetic/environmental background, where variations within CD28/CTLA-4/ICOS genes are considered as disease markers.Association of CD28c.17+3T>C(rs3116496), CTLA-4g.319C>T(rs5742909), CTLA-4c.49A>G(rs231775), CTLA-4g.*642AT(8_33), CT60(rs3087243), Jo31(rs11571302), ICOSc.1554+4GT(8_15) polymorphisms with susceptibility to Graves' disease and clinical outcome was investigated. The study group comprised of 561 Polish Caucasians, including 172 unrelated Graves' disease patients. CTLA-4c.49A>G, CTLA-4g.319C>T, and CT60 were genotyped by PCR-RFLP; Jo31 and CD28c.17+3C>T by minisequencing; CTLA-4g.*642AT(8_33) and ICOSc.1554+4GT(8_15)-PCR and fluorescence-based technique. CD28c.17+3T>C(rs3116496)T/CTLA-4g.319C>T(rs5742909)C/CTLA-4c.49A>G(rs231775)G/CTLA-4g.*642AT(8_33)(AT 16-21 )/CT60(rs3087243)G/Jo31(rs11571302)G/ICOSc.1554+4GT(8_15)(m) and TCA(AT Graves' disease, especially in males, as well as overall Graves' orbitopathy development with severe outcome. TCG(AT 16-21 )GG(l) haplotype increased risk of Graves' disease and reduced the chance of successful medical treatment. Although this haplotype was mainly observed in patients without signs of Graves' orbitopathy, if Graves' orbitopathy developed it favored a Graves' orbitopathy outcome. Haplotype TCA(AT >21 )GT(m) increased Graves' disease risk in women and, in all patients, was linked to Graves' disease without Graves' orbitopathy. TCG(AT Graves' disease risk factor, whereas CT60 was an independent factor for disease progression. Sporadic Graves' disease was related to presence of CTLA-4c.49A>G[A] and the rare CTLA-4g.319C>T[T] allele variant. Familial background of the disease was exclusively associated with CTLA-4g.*642AT(8_33)[AT >21 ]/[AT >21 ] genotype. CD28/CTLA-4/ICOS loci may confer inherited susceptibility to Graves' disease or may be involved in susceptibility to Graves' disease and play a

  13. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

    Science.gov (United States)

    Escott-Price, Valentina; Bellenguez, Céline; Wang, Li-San; Choi, Seung-Hoan; Harold, Denise; Jones, Lesley; Holmans, Peter; Gerrish, Amy; Vedernikov, Alexey; Richards, Alexander; DeStefano, Anita L; Lambert, Jean-Charles; Ibrahim-Verbaas, Carla A; Naj, Adam C; Sims, Rebecca; Jun, Gyungah; Bis, Joshua C; Beecham, Gary W; Grenier-Boley, Benjamin; Russo, Giancarlo; Thornton-Wells, Tricia A; Denning, Nicola; Smith, Albert V; Chouraki, Vincent; Thomas, Charlene; Ikram, M Arfan; Zelenika, Diana; Vardarajan, Badri N; Kamatani, Yoichiro; Lin, Chiao-Feng; Schmidt, Helena; Kunkle, Brian; Dunstan, Melanie L; Vronskaya, Maria; Johnson, Andrew D; Ruiz, Agustin; Bihoreau, Marie-Thérèse; Reitz, Christiane; Pasquier, Florence; Hollingworth, Paul; Hanon, Olivier; Fitzpatrick, Annette L; Buxbaum, Joseph D; Campion, Dominique; Crane, Paul K; Baldwin, Clinton; Becker, Tim; Gudnason, Vilmundur; Cruchaga, Carlos; Craig, David; Amin, Najaf; Berr, Claudine; Lopez, Oscar L; De Jager, Philip L; Deramecourt, Vincent; Johnston, Janet A; Evans, Denis; Lovestone, Simon; Letenneur, Luc; Hernández, Isabel; Rubinsztein, David C; Eiriksdottir, Gudny; Sleegers, Kristel; Goate, Alison M; Fiévet, Nathalie; Huentelman, Matthew J; Gill, Michael; Brown, Kristelle; Kamboh, M Ilyas; Keller, Lina; Barberger-Gateau, Pascale; McGuinness, Bernadette; Larson, Eric B; Myers, Amanda J; Dufouil, Carole; Todd, Stephen; Wallon, David; Love, Seth; Rogaeva, Ekaterina; Gallacher, John; George-Hyslop, Peter St; Clarimon, Jordi; Lleo, Alberto; Bayer, Anthony; Tsuang, Debby W; Yu, Lei; Tsolaki, Magda; Bossù, Paola; Spalletta, Gianfranco; Proitsi, Petra; Collinge, John; Sorbi, Sandro; Garcia, Florentino Sanchez; Fox, Nick C; Hardy, John; Naranjo, Maria Candida Deniz; Bosco, Paolo; Clarke, Robert; Brayne, Carol; Galimberti, Daniela; Scarpini, Elio; Bonuccelli, Ubaldo; Mancuso, Michelangelo; Siciliano, Gabriele; Moebus, Susanne; Mecocci, Patrizia; Zompo, Maria Del; Maier, Wolfgang; Hampel, Harald; Pilotto, Alberto; Frank-García, Ana; Panza, Francesco; Solfrizzi, Vincenzo; Caffarra, Paolo; Nacmias, Benedetta; Perry, William; Mayhaus, Manuel; Lannfelt, Lars; Hakonarson, Hakon; Pichler, Sabrina; Carrasquillo, Minerva M; Ingelsson, Martin; Beekly, Duane; Alvarez, Victoria; Zou, Fanggeng; Valladares, Otto; Younkin, Steven G; Coto, Eliecer; Hamilton-Nelson, Kara L; Gu, Wei; Razquin, Cristina; Pastor, Pau; Mateo, Ignacio; Owen, Michael J; Faber, Kelley M; Jonsson, Palmi V; Combarros, Onofre; O'Donovan, Michael C; Cantwell, Laura B; Soininen, Hilkka; Blacker, Deborah; Mead, Simon; Mosley, Thomas H; Bennett, David A; Harris, Tamara B; Fratiglioni, Laura; Holmes, Clive; de Bruijn, Renee F A G; Passmore, Peter; Montine, Thomas J; Bettens, Karolien; Rotter, Jerome I; Brice, Alexis; Morgan, Kevin; Foroud, Tatiana M; Kukull, Walter A; Hannequin, Didier; Powell, John F; Nalls, Michael A; Ritchie, Karen; Lunetta, Kathryn L; Kauwe, John S K; Boerwinkle, Eric; Riemenschneider, Matthias; Boada, Mercè; Hiltunen, Mikko; Martin, Eden R; Schmidt, Reinhold; Rujescu, Dan; Dartigues, Jean-François; Mayeux, Richard; Tzourio, Christophe; Hofman, Albert; Nöthen, Markus M; Graff, Caroline; Psaty, Bruce M; Haines, Jonathan L; Lathrop, Mark; Pericak-Vance, Margaret A; Launer, Lenore J; Van Broeckhoven, Christine; Farrer, Lindsay A; van Duijn, Cornelia M; Ramirez, Alfredo; Seshadri, Sudha; Schellenberg, Gerard D; Amouyel, Philippe; Williams, Julie

    2014-01-01

    Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4×10-6) and 14 (IGHV1-67 p = 7.9×10-8) which indexed novel susceptibility loci. The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.

  14. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Valentina Escott-Price

    Full Text Available Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls.In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4×10-6 and 14 (IGHV1-67 p = 7.9×10-8 which indexed novel susceptibility loci.The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.

  15. Genetic susceptibility testing for chronic disease and intention for behavior change in healthy young adults.

    Science.gov (United States)

    Vassy, Jason L; Donelan, Karen; Hivert, Marie-France; Green, Robert C; Grant, Richard W

    2013-04-01

    Genetic testing for chronic disease susceptibility may motivate young adults for preventive behavior change. This nationally representative survey gave 521 young adults hypothetical scenarios of receiving genetic susceptibility results for heart disease, type 2 diabetes, and stroke and asked their (1) interest in such testing, (2) anticipated likelihood of improving diet and physical activity with high- and low-risk test results, and (3) readiness to make behavior change. Responses were analyzed by presence of established disease-risk factors. Respondents with high phenotypic diabetes risk reported increased likelihood of improving their diet and physical activity in response to high-risk results compared with those with low diabetes risk (odds ratio (OR), 1.82 (1.03, 3.21) for diet and OR, 2.64 (1.24, 5.64) for physical activity). In contrast, poor baseline diet (OR, 0.51 (0.27, 0.99)) and poor physical activity (OR, 0.53 (0.29, 0.99)) were associated with decreased likelihood of improving diet. Knowledge of genetic susceptibility may motivate young adults with higher personal diabetes risk for improvement in diet and exercise, but poor baseline behaviors are associated with decreased intention to make these changes. To be effective, genetic risk testing in young adults may need to be coupled with other strategies to enable behavior change.

  16. THE MITOCHONDRIAL PARADIGM FOR CARDIOVASCULAR DISEASE SUSCEPTIBILITY AND CELLULAR FUNCTION: A COMPLEMENTARY CONCEPT TO MENDELIAN GENETICS

    Science.gov (United States)

    Kryzwanski, David M.; Moellering, Douglas; Fetterman, Jessica L.; Dunham-Snary, Kimberly J.; Sammy, Melissa J.; Ballinger, Scott W.

    2013-01-01

    While there is general agreement that cardiovascular disease (CVD) development is influenced by a combination of genetic, environmental, and behavioral contributors, the actual mechanistic basis of how these factors initiate or promote CVD development in some individuals while others with identical risk profiles do not, is not clearly understood. This review considers the potential role for mitochondrial genetics and function in determining CVD susceptibility from the standpoint that the original features that molded cellular function were based upon mitochondrial-nuclear relationships established millions of years ago and were likely refined during prehistoric environmental selection events that today, are largely absent. Consequently, contemporary risk factors that influence our susceptibility to a variety of age-related diseases, including CVD were probably not part of the dynamics that defined the processes of mitochondrial – nuclear interaction, and thus, cell function. In this regard, the selective conditions that contributed to cellular functionality and evolution should be given more consideration when interpreting and designing experimental data and strategies. Finally, future studies that probe beyond epidemiologic associations are required. These studies will serve as the initial steps for addressing the provocative concept that contemporary human disease susceptibility is the result of selection events for mitochondrial function that increased chances for prehistoric human survival and reproductive success. PMID:21647091

  17. Mechanisms of hydrogen retention in metallic beryllium and beryllium oxide and properties of ion-induced beryllium nitride

    International Nuclear Information System (INIS)

    Oberkofler, Martin

    2011-01-01

    In the framework of this thesis laboratory experiments on atomically clean beryllium surfaces were performed. They aim at a basic understanding of the mechanisms occurring upon interaction of a fusion plasma with a beryllium first wall. The retention and the temperature dependent release of implanted deuterium ions are investigated. An atomistic description is developed through simulations and through the comparison with calculations based on density functional theory. The results of these investigations are compared to the behaviour of hydrogen upon implantation into thermally grown beryllium oxide layers. Furthermore, beryllium nitride is produced by implantation of nitrogen into metallic beryllium and its properties are investigated. The results are interpreted with regard to the use of beryllium in a fusion reactor. (orig.)

  18. Comparisons of protein profiles of beech bark disease resistant and susceptible American beech (Fagus grandifolia)

    Science.gov (United States)

    2013-01-01

    Background Beech bark disease is an insect-fungus complex that damages and often kills American beech trees and has major ecological and economic impacts on forests of the northeastern United States and southeastern Canadian forests. The disease begins when exotic beech scale insects feed on the bark of trees, and is followed by infection of damaged bark tissues by one of the Neonectria species of fungi. Proteomic analysis was conducted of beech bark proteins from diseased trees and healthy trees in areas heavily infested with beech bark disease. All of the diseased trees had signs of Neonectria infection such as cankers or fruiting bodies. In previous tests reported elsewhere, all of the diseased trees were demonstrated to be susceptible to the scale insect and all of the healthy trees were demonstrated to be resistant to the scale insect. Sixteen trees were sampled from eight geographically isolated stands, the sample consisting of 10 healthy (scale-resistant) and 6 diseased/infested (scale-susceptible) trees. Results Proteins were extracted from each tree and analysed in triplicate by isoelectric focusing followed by denaturing gel electrophoresis. Gels were stained and protein spots identified and intensity quantified, then a statistical model was fit to identify significant differences between trees. A subset of BBD differential proteins were analysed by mass spectrometry and matched to known protein sequences for identification. Identified proteins had homology to stress, insect, and pathogen related proteins in other plant systems. Protein spots significantly different in diseased and healthy trees having no stand or disease-by-stand interaction effects were identified. Conclusions Further study of these proteins should help to understand processes critical to resistance to beech bark disease and to develop biomarkers for use in tree breeding programs and for the selection of resistant trees prior to or in early stages of BBD development in stands. Early

  19. Survey of susceptibility to marbofloxacin in bacteria isolated from diseased pigs in Europe.

    Science.gov (United States)

    El Garch, F; Kroemer, S; Galland, D; Morrissey, I; Woehrle, F

    2017-06-17

    A monitoring programme of marbofloxacin susceptibility of bacteria from Europe causing respiratory tract infection and meningitis in pigs has been active since 1994 and 2002, respectively. Monitoring digestive, metritis and urinary tract infection (UTI) in pigs has been active since 2005 and susceptibility results until 2013 are presented. Minimum inhibitory concentration (MIC) was determined by broth microdilution. For MIC interpretation, Vétoquinol-evaluated breakpoints were applied. For digestive pathogens, Escherichia coli and Salmonella species (1717 and 300 isolates, respectively) exhibited 7.5 per cent resistance in E coli and no resistance in Salmonella species. Similarly, E coli from metritis (369 isolates) had 7.0 per cent resistance to marbofloxacin. However, E coli from UTI (633 isolates) had higher resistance (10.4 per cent). For Streptococcus suis causing meningitis (585 isolates), marbofloxacin susceptibility was very high with only 0.5 per cent resistance and 0.4 per cent resistance was observed with S suis causing respiratory disease (729 isolates). Other respiratory pathogens were also highly susceptible to marbofloxacin with no resistance in Actinobacillus pleuropneumoniae (647 isolates) or Bordetella bronchiseptica (504 isolates), 0.1 per cent resistance in Pasteurella multocida (1373 isolates) and 1.4 per cent resistance in Haemophilus parasuis (145 isolates). There was no apparent change in marbofloxacin MIC over time for any bacterial pathogen based on MIC 50/90 These data confirm previously published MIC results from porcine and other animal infections. British Veterinary Association.

  20. OAS1: a multiple sclerosis susceptibility gene that influences disease severity.

    LENUS (Irish Health Repository)

    O'Brien, M

    2012-02-01

    BACKGROUND: Type 1 interferons upregulate oligoadenylate synthetase 1 (OAS1). A single nucleotide polymorphism (SNP) in exon 7 of OAS1 results in differential RNAseL enzyme activity, the A allele coding for a truncated form with low activity and the G conferring high activity. We hypothesized that OAS1 genotypes would influence both susceptibility to multiple sclerosis (MS) and disease activity with the AA genotype being overrepresented and the GG genotype underrepresented in relapsing-remitting MS (RRMS) with increased disease activity. METHODS: We examined OAS1 genotype distribution in 401 patients with MS, 394 healthy controls, and 178 patients with RRMS receiving interferon-beta (IFNbeta) assessed as 1) having no or minimal disease activity on IFNbeta, 2) having disease activity despite IFNbeta, and 3) 65 patients with RRMS with highly active disease. RESULTS: The OAS1 genotype distribution differed between patients with MS and controls (p = 0.000003), with lower frequency of GG homozygotes in patients with MS (6%) compared with controls (17%). In relation to disease severity, 34 (32%) patients with no or minimal disease activity on IFNbeta had the AA and 8 (8%) the GG genotype; of patients with disease activity despite IFNbeta, 27 (51%) were AA, while only 1 (2%) was GG (p = 0.03). Median time to first relapse on IFNbeta was 24 months in patients with RRMS with AA genotype and 33 months with AG or GG genotype (p = 0.04). The GG genotype was absent in 65 patients with highly active RRMS (p = 0.03). CONCLUSIONS: A functional OAS1 SNP, AA genotype, confers susceptibility to MS and the GG genotype may protect against increased disease activity.

  1. Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis.

    Directory of Open Access Journals (Sweden)

    Arne S Schaefer

    2009-02-01

    Full Text Available Recent studies indicate a mutual epidemiological relationship between coronary heart disease (CHD and periodontitis. Both diseases are associated with similar risk factors and are characterized by a chronic inflammatory process. In a candidate-gene association study, we identify an association of a genetic susceptibility locus shared by both diseases. We confirm the known association of two neighboring linkage disequilibrium regions on human chromosome 9p21.3 with CHD and show the additional strong association of these loci with the risk of aggressive periodontitis. For the lead SNP of the main associated linkage disequilibrium region, rs1333048, the odds ratio of the autosomal-recessive mode of inheritance is 1.99 (95% confidence interval 1.33-2.94; P = 6.9 x 10(-4 for generalized aggressive periodontitis, and 1.72 (1.06-2.76; P = 2.6 x 10(-2 for localized aggressive periodontitis. The two associated linkage disequilibrium regions map to the sequence of the large antisense noncoding RNA ANRIL, which partly overlaps regulatory and coding sequences of CDKN2A/CDKN2B. A closely located diabetes-associated variant was independent of the CHD and periodontitis risk haplotypes. Our study demonstrates that CHD and periodontitis are genetically related by at least one susceptibility locus, which is possibly involved in ANRIL activity and independent of diabetes associated risk variants within this region. Elucidation of the interplay of ANRIL transcript variants and their involvement in increased susceptibility to the interactive diseases CHD and periodontitis promises new insight into the underlying shared pathogenic mechanisms of these complex common diseases.

  2. Does Animal Behavior Underlie Covariation Between Hosts' Exposure to Infectious Agents and Susceptibility to Infection? Implications for Disease Dynamics

    NARCIS (Netherlands)

    Hawley, Dana M.; Etienne, Rampal S.; Ezenwa, Vanessa O.; Jolles, Anna E.

    2011-01-01

    Animal behavior is unique in influencing both components of the process of transmission of disease: exposure to infectious agents, and susceptibility to infection once exposed. To date, the influence of behavior on exposure versus susceptibility has largely been considered separately. Here, we ask

  3. Hanford Site Beryllium Program: Past, Present, and Future - 12428

    Energy Technology Data Exchange (ETDEWEB)

    Fisher, Mark [CH2M Hill Plateau Remediation Company, Richland, Washington 99354 (United States); Garcia, Pete [U.S. Department of Energy - Richland Office, Richland, Washington 99352 (United States); Goeckner, Julie [U.S. Department of Energy - HQ, EMCBC, Cincinnati, Ohio 45202 (United States); Millikin, Emily [Washington Closure Hanford, Richland, Washington 99354 (United States); Stoner, Mike [Mission Support Alliance, Richland, Washington 99354 (United States)

    2012-07-01

    The U.S. Department of Energy (DOE) has a long history of beryllium use because of the element's broad application to many nuclear operations and processes. At the Hanford Site beryllium alloy was used to fabricate parts for reactors, including fuel rods for the N-Reactor during plutonium production. Because of continued confirmed cases of chronic beryllium disease (CBD), and data suggesting CBD occurs at exposures to low-level concentrations, the DOE decided to issue a rule to further protect federal and contractor workers from hazards associated with exposure to beryllium. When the beryllium rule was issued in 1999, each of the Hanford Site contractors developed a Chronic Beryllium Disease Prevention Program (CBDPP) and initial site wide beryllium inventories. A new site-wide CBDPP, applicable to all Hanford contractors, was issued in May, 2009. In the spring of 2010 the DOE Headquarters Office of Health, Safety, and Security (HSS) conducted an independent inspection to evaluate the status of implementation of the Hanford Site Chronic Beryllium Disease Prevention Program (CBDPP). The report identified four Findings and 12 cross-cutting Opportunities for Improvement (OFIs). A corrective action plan (CAP) was developed to address the Findings and crosscutting OFIs. The DOE directed affected site contractors to identify dedicated resources to participate in development of the CAP, along with involving stakeholders. The CAP included general and contractor-specific recommendations. Following initiation of actions to implement the approved CAP, it became apparent that additional definition of product deliverables was necessary to assure that expectations were adequately addressed and CAP actions could be closed. Consequently, a supplement to the original CAP was prepared and transmitted to DOE-HQ for approval. Development of the supplemental CAP was an eight month effort. From the onset a core group of CAP development members were identified to develop a mechanism

  4. Belgian research on fusion beryllium waste

    International Nuclear Information System (INIS)

    Druyts, F.; Mallants, D.; Sillen, X.; Iseghem, P. Van

    2004-01-01

    Future fusion power plants will generate important quantities of neutron irradiated beryllium. Although recycling is the preferred management option for this waste, this may not be technically feasible for all of the beryllium, because of its radiological characteristics. Therefore, at SCK·CEN, we initiated a research programme aimed at studying aspects of the disposal of fusion beryllium, including waste characterisation, waste acceptance criteria, conditioning methods, and performance assessment. One of the main issues to be resolved is the development of fusion-specific waste acceptance criteria for surface or deep geological disposal, in particular with regard to the tritium content. In case disposal is the only solution, critical nuclides can be immobilised by conditioning the waste. As a first approach to immobilising beryllium waste, we investigated the vitrification of beryllium. Corrosion tests were performed on both metallic and vitrified beryllium to provide source data for performance assessment. Finally, a first step in performance assessment was undertaken. (author)

  5. Beryllium minerals - demand strong for miniaturisation

    International Nuclear Information System (INIS)

    Griffiths, J.

    1985-01-01

    Beryllium is an essential constituent of over 40 minerals of which two are exploited commercially. Beryl is largely produced in the USSR and China and bertrandite in the U.S.A. Phenacite, from Canada, is also under investigation. The largest extraction plant for the recovery of beryllium in the western world is in Utah, U.S.A. and the company also produces beryllium oxide used in the manufacture of ceramics widely used in the electronics industry and for refractory articles. Beryllium-copper alloys in strip, rod and tube form are produced in the U.S.A., Germany and the U.K. Beryllium ceramics are important because of their high thermal conductivity, electrical insulation, strength and rigidity. The alloys, used as electric connectors, microswitch contacts are important for their high suitability for miniaturisation. The future growth potential for the beryllium industry is in the automotive industries in Europe and Japan. (U.K.)

  6. Method for hot pressing beryllium oxide articles

    Science.gov (United States)

    Ballard, Ambrose H.; Godfrey, Jr., Thomas G.; Mowery, Erb H.

    1988-01-01

    The hot pressing of beryllium oxide powder into high density compacts with little or no density gradients is achieved by employing a homogeneous blend of beryllium oxide powder with a lithium oxide sintering agent. The lithium oxide sintering agent is uniformly dispersed throughout the beryllium oxide powder by mixing lithium hydroxide in an aqueous solution with beryllium oxide powder. The lithium hydroxide is converted in situ to lithium carbonate by contacting or flooding the beryllium oxide-lithium hydroxide blend with a stream of carbon dioxide. The lithium carbonate is converted to lithium oxide while remaining fixed to the beryllium oxide particles during the hot pressing step to assure uniform density throughout the compact.

  7. IRGM Variants and Susceptibility to Inflammatory Bowel Disease in the German Population

    Science.gov (United States)

    Bues, Stephanie; Stallhofer, Johannes; Fries, Christoph; Olszak, Torsten; Tsekeri, Eleni; Wetzke, Martin; Beigel, Florian; Steib, Christian; Friedrich, Matthias; Göke, Burkhard; Diegelmann, Julia; Czamara, Darina; Brand, Stephan

    2013-01-01

    Background & Aims Genome-wide association studies identified the autophagy gene IRGM to be strongly associated with Crohn's disease (CD) but its impact in ulcerative colitis (UC), its phenotypic effects and potential epistatic interactions with other IBD susceptibility genes are less clear which we therefore analyzed in this study. Methodology/Principal Findings Genomic DNA from 2060 individuals including 817 CD patients, 283 UC patients, and 961 healthy, unrelated controls (all of Caucasian origin) was analyzed for six IRGM single nucleotide polymorphisms (SNPs) (rs13371189, rs10065172 = p.Leu105Leu, rs4958847, rs1000113, rs11747270, rs931058). In all patients, a detailed genotype-phenotype analysis and testing for epistasis with the three major CD susceptibility genes NOD2, IL23R and ATG16L1 were performed. Our analysis revealed an association of the IRGM SNPs rs13371189 (p = 0.02, OR 1.31 [95% CI 1.05–1.65]), rs10065172 = p.Leu105Leu (p = 0.016, OR 1.33 [95% CI 1.06–1.66]) and rs1000113 (p = 0.047, OR 1.27 [95% CI 1.01–1.61]) with CD susceptibility. There was linkage disequilibrium between these three IRGM SNPs. In UC, several IRGM haplotypes were weakly associated with UC susceptibility (passociations with a specific IBD phenotype or ileal CD involvement. There was evidence for weak gene-gene-interaction between several SNPs of the autophagy genes IRGM and ATG16L1 (p<0.05), which, however, did not remain significant after Bonferroni correction. Conclusions/Significance Our results confirm IRGM as susceptibility gene for CD in the German population, supporting a role for the autophagy genes IRGM and ATG16L1 in the pathogenesis of CD. PMID:23365659

  8. Mechanical properties of irradiated beryllium

    International Nuclear Information System (INIS)

    Beeston, J.M.; Longhurst, G.R.; Wallace, R.S.

    1992-01-01

    Beryllium is planned for use as a neutron multiplier in the tritium breeding blanket of the International Thermonuclear Experimental Reactor (ITER). After fabricating samples of beryllium at densities varying from 80 to 100% of the theoretical density, we conducted a series of experiments to measure the effect of neutron irradiation on mechanical properties, especially strength and ductility. Samples were irradiated in the Advanced Test Reactor (ATR) to a neutron fluence of 2.6 x 10 25 n/m 2 (E > MeV) at an irradiation temperature of 75deg C. These samples were subsequently compression-tested at room temperature, and the results were compared with similar tests on unirradiated specimens. We found that the irradiation increased the strength by approximately four times and reduced the ductility to approximately one fourth. Failure was generally ductile, but the 80% dense irradiated samples failed in brittle fracture with significant generation of fine particles and release of small quantities of tritium. (orig.)

  9. Mechanical properties of irradiated beryllium

    Science.gov (United States)

    Beeston, J. M.; Longhurst, G. R.; Wallace, R. S.; Abeln, S. P.

    1992-10-01

    Beryllium is planned for use as a neutron multiplier in the tritium breeding blanket of the International Thermonuclear Experimental Reactor (ITER). After fabricating samples of beryllium at densities varying from 80 to 100% of the theoretical density, we conducted a series of experiments to measure the effect of neutron irradiation on mechanical properties, especially strength and ductility. Samples were irradiated in the Advanced Test Reactor (ATR) to a neutron fluence of 2.6 × 10 25 n/m 2 ( E > 1 MeV) at an irradiation temperature of 75°C. These samples were subsequently compression-tested at room temperature, and the results were compared with similar tests on unirradiated specimens. We found that the irradiation increased the strength by approximately four times and reduced the ductility to approximately one fourth. Failure was generally ductile, but the 80% dense irradiated samples failed in brittle fracture with significant generation of fine particles and release of small quantities of tritium.

  10. Research advances in susceptibility genes and their role in the pathogenesis of nonalcoholic fatty liver disease

    Directory of Open Access Journals (Sweden)

    XUAN Shiying

    2016-03-01

    Full Text Available Currently the incidence of nonalcoholic fatty liver disease (NAFLD is increasing, and the age of onset is getting younger worldwide, resulting in a heavy economic burden for both individuals and the society. Since NAFLD is closely related to heredity, metabolism, and the environment, genetic factors play an important role in the development and progression of NAFLD. With the development and wide application of the techniques from the genome-wide association studies, new research advances have been achieved in the susceptibility genes of NAFLD. This review summarizes the related research findings at home and abroad, and investigates the pathogenic factors for NAFLD and related mechanisms with a focus on the polymorphisms of susceptibility genes.

  11. MEASUREMENTS OF THE PROPERTIES OF BERYLLIUM FOIL

    International Nuclear Information System (INIS)

    ZHAO, Y.; WANG, H.

    2000-01-01

    The electrical conductivity of beryllium at radio frequency (800 MHz) and liquid nitrogen temperature were investigated and measured. This summary addresses a collection of beryllium properties in the literature, an analysis of the anomalous skin effect, the test model, the experimental setup and improvements, MAFIA simulations, the measurement results and data analyses. The final results show that the conductivity of beryllium is not as good as indicated by the handbook, yet very close to copper at liquid nitrogen temperature

  12. New audio applications of beryllium metal

    International Nuclear Information System (INIS)

    Sato, M.

    1977-01-01

    The major applications of beryllium metal in the field of audio appliances are for the vibrating cones for the two types of speakers 'TWITTER' for high range sound and 'SQUAWKER' for mid range sound, and also for beryllium cantilever tube assembled in stereo cartridge. These new applications are based on the characteristic property of beryllium having high ratio of modulus of elasticity to specific gravity. The production of these audio parts is described, and the audio response is shown. (author)

  13. Thermal expansion of beryllium oxide

    International Nuclear Information System (INIS)

    Solodukhin, A.V.; Kruzhalov, A.V.; Mazurenko, V.G.; Maslov, V.A.; Medvedev, V.A.; Polupanova, T.I.

    1987-01-01

    Precise measurements of temperature dependence of the coefficient of linear expansion in the 22-320 K temperature range on beryllium oxide monocrystals are conducted. A model of thermal expansion is suggested; the range of temperature dependence minimum of the coefficient of thermal expansion is well described within the frames of this model. The results of the experiment may be used for investigation of thermal stresses in crystals

  14. Tritium behavior in ITER beryllium

    International Nuclear Information System (INIS)

    Longhurst, G.R.

    1990-10-01

    The beryllium neutron multiplier in the ITER breeding blanket will generate tritium through transmutations. That tritium constitutes a safety hazard. Experiments evaluating tritium storage and release mechanisms have shown that most of the tritium comes out in a burst during thermal ramping. A small fraction of retained tritium is released by thermally activated processes. Analysis of recent experimental data shows that most of the tritium resides in helium bubbles. That tritium is released when the bubbles undergo swelling sufficient to develop porosity that connects with the surface. That appears to occur when swelling reaches about 10--15%. Other tritium appears to be stored chemically at oxide inclusions, probably as Be(OT) 2 . That component is released by thermal activation. There is considerable variation in published values for tritium diffusion through the beryllium and solubility in it. Data from experiments using highly irradiated beryllium from the Idaho National Engineering Laboratory showed diffusivity generally in line with the most commonly accepted values for fully dense material. Lower density material, planned for use in the ITER blanket may have very short diffusion times because of the open structure. The beryllium multiplier of the ITER breeding blanket was analyzed for tritium release characteristics using temperature and helium production figures at the midplane generated in support of the ITER Summer Workshop, 1990 in Garching. Ordinary operation, either in Physics or Technology phases, should not result in the release of tritium trapped in the helium bubbles. Temperature excursions above 600 degree C result in large-scale release of that tritium. 29 refs., 10 figs., 3 tabs

  15. Intoxication experiments with beryllium sulphate

    International Nuclear Information System (INIS)

    Bucurescu, I.; Stan, T.

    1990-01-01

    The changes in the particular number of animals in two groups of 40 rats each subjected to intoxication experiments with beryllium sulphate was investigated. The two investigations had very different characteristics. In the case of chronic intoxication there was a marked lethality over given time intervals. In the case of subacute intoxication the number of animals decreased with time. It was found empirically that this change can be described by an exponential relationship which lends itself to statistical interpretation. (author)

  16. Thermodynamic properties of beryllium hydroxide

    International Nuclear Information System (INIS)

    Baur, A.; Lecocq, A.

    1964-01-01

    The study of the hydro-thermal decomposition of beryllium hydroxide has made it possible to determine the free energy of formation and the entropy. The results obtained are in good agreement with the theoretical values calculated from the solubility product of this substance. They give furthermore the possibility of acquiring a better understanding of the BeO-H 2 O-Be (OH) 2 system between 20 and 1500 C. (authors) [fr

  17. Investigation of Caucasian rheumatoid arthritis susceptibility loci in African patients with the same disease

    Science.gov (United States)

    2012-01-01

    Introduction The largest genetic risk to develop rheumatoid arthritis (RA) arises from a group of alleles of the HLA DRB1 locus ('shared epitope', SE). Over 30 non-HLA single nucleotide polymorphisms (SNPs) predisposing to disease have been identified in Caucasians, but they have never been investigated in West/Central Africa. We previously reported a lower prevalence of the SE in RA patients in Cameroon compared to European patients and aimed in the present study to investigate the contribution of Caucasian non-HLA RA SNPs to disease susceptibility in Black Africans. Methods RA cases and controls from Cameroon were genotyped for Caucasian RA susceptibility SNPs using Sequenom MassArray technology. Genotype data were also available for 5024 UK cases and 4281 UK controls and for 119 Yoruba individuals in Ibadan, Nigeria (YRI, HapMap). A Caucasian aggregate genetic-risk score (GRS) was calculated as the sum of the weighted risk-allele counts. Results After genotyping quality control procedures were performed, data on 28 Caucasian non-HLA susceptibility SNPs were available in 43 Cameroonian RA cases and 44 controls. The minor allele frequencies (MAF) were tightly correlated between Cameroonian controls and YRI individuals (correlation coefficient 93.8%, p = 1.7E-13), and they were pooled together. There was no correlation between MAF of UK and African controls; 13 markers differed by more than 20%. The MAF for markers at PTPN22, IL2RA, FCGR2A and IL2/IL21 was below 2% in Africans. The GRS showed a strong association with RA in the UK. However, the GRS did not predict RA in Africans (OR = 0.71, 95% CI 0.29 - 1.74, p = 0.456). Random sampling from the UK cohort showed that this difference in association is unlikely to be explained by small sample size or chance, but is statistically significant with p<0.001. Conclusions The MAFs of non-HLA Caucasian RA susceptibility SNPs are different between Caucasians and Africans, and several polymorphisms are barely detectable in

  18. AS3MT, GSTO, and PNP polymorphisms: impact on arsenic methylation and implications for disease susceptibility.

    Science.gov (United States)

    Antonelli, Ray; Shao, Kan; Thomas, David J; Sams, Reeder; Cowden, John

    2014-07-01

    Oral exposure to inorganic arsenic (iAs) is associated with adverse health effects. Epidemiological studies suggest differences in susceptibility to these health effects, possibly due to genotypic variation. Genetic polymorphisms in iAs metabolism could lead to increased susceptibility by altering urinary iAs metabolite concentrations. To examine the impact of genotypic polymorphisms on iAs metabolism. We screened 360 publications from PubMed and Web of Science for data on urinary mono- and dimethylated arsenic (MMA and DMA) percentages and polymorphic genes encoding proteins that are hypothesized to play roles in arsenic metabolism. The genes we examined were arsenic (+3) methyltransferase (AS3MT), glutathione-s-transferase omega (GSTO), and purine nucleoside phosphorylase (PNP). Relevant data were pooled to determine which polymorphisms are associated across studies with changes in urinary metabolite concentration. In our review, AS3MT polymorphisms rs3740390, rs11191439, and rs11191453 were associated with statistically significant changes in percent urinary MMA. Studies of GSTO polymorphisms did not indicate statistically significant associations with methylation, and there are insufficient data on PNP polymorphisms to evaluate their impact on metabolism. Collectively, these data support the hypothesis that AS3MT polymorphisms alter in vivo metabolite concentrations. Preliminary evidence suggests that AS3MT genetic polymorphisms may impact disease susceptibility. GSTO polymorphisms were not associated with iAs-associated health outcomes. Additional data are needed to evaluate the association between PNP polymorphisms and iAs-associated health outcomes. Delineation of these relationships may inform iAs mode(s) of action and the approach for evaluating low-dose health effects for iAs. Genotype impacts urinary iAs metabolite concentrations and may be a potential mechanism for iAs-related disease susceptibility. Published by Elsevier Inc.

  19. Thermal Properties of Beryllium Metal

    International Nuclear Information System (INIS)

    Cho, Tae Won; Baek, Je Kyun; Jeong, Gwan Yoon; Kim, Ji Hyeon; Sohn, Dong Seong

    2013-01-01

    It is known that the presence of as-fabricated porosity largely affect thermal conductivity of beryllium. Therefore, in this paper we will suggest a new thermal conductivity equation which consider volume fraction and discuss how this can be applied to irradiation induced degradation of thermal conductivity later. This study was performed to develop a new correlation of thermal conductivity of Beryllium. Although there are many factors like BeO contents, impurity level, grain size, and porosity, we assumed porosity will be the dominant factor for thermal conductivity. Therefore, a new correlation which consider volume fraction by applying Maxwell-Eucken equation is developed and this is consistent to some degrees. However, increasing impurity level and decreasing grain size will decrease thermal conductivity. Therefore, we need to consider their effects although we assume BeO contents, impurity, and grain size do not make noticeable effects in the future. Furthermore, thermal conductivity degradation by neutron irradiation should be considered afterward. There are two main factors for the thermal conductivity degradation: the one is defects formed by neutron collisions and the other is helium generated by transmutation of Be. It is known that they make a considerable degradation of conductivity. Beryllium is known there are considerable volume increases by helium accumulation. Therefore, we anticipate our suggested model can be applicable if it has been developed furthermore considering irradiation induced swelling

  20. (Beryllium). Internal Report No. 137, Jan. 15, 1958

    International Nuclear Information System (INIS)

    Mouret, P.; Rigaud, A.

    1959-01-01

    After a brief summary of the physical and chemical properties of beryllium, the various chemical treatments which can be applied to beryllium minerals either directly or after a physical enrichment are discussed. These various treatments give either the hydroxide or beryllium salts, from which either beryllium oxide or metallic beryllium can easily be obtained. The purification, analysis and uses of beryllium are also briefly discussed. (author)

  1. Beryllium dust generation resulting from plasma bombardment

    International Nuclear Information System (INIS)

    Doerner, R.; Mays, C.

    1997-01-01

    The beryllium dust resulting from erosion of beryllium samples subjected to plasma bombardment has been measured in PISCES-B. Loose surface dust was found to be uniformly distributed throughout the device and accounts for 3% of the eroded material. A size distribution measurement of the loose surface dust shows an increasing number of particles with decreasing diameter. Beryllium coatings on surfaces with a line of sight view of the target interaction region account for an additional 33% of the eroded beryllium material. Flaking of these surface layers is observed and is thought to play a significant role in dust generation inside the vacuum vessel. (orig.)

  2. Microplasticity in hot-pressed beryllium

    International Nuclear Information System (INIS)

    Plane, D.C.; Bonfield, W.

    1977-01-01

    Closed hysteresis loops measured in the microstrain region of hot pressed, commercially pure, polycrystalline beryllium are correlated with a dislocation - impurity atom, energy dissipating mechanism. (author)

  3. Beryllium thin films for resistor applications

    Science.gov (United States)

    Fiet, O.

    1972-01-01

    Beryllium thin films have a protective oxidation resistant property at high temperature and high recrystallization temperature. However, the experimental film has very low temperature coefficient of resistance.

  4. The use of simple indicators for detecting potential coronary heart disease susceptibility in the air traffic controller population.

    Science.gov (United States)

    1972-05-01

    An analysis was made of an eight-year interval change in several indicators of coronary heart disease (CHD) susceptibility as measured on 475 male air traffic control (ATC) personnel. The initial measurements were obtained from these personnel as ATC...

  5. The use of simple indicators for detecting potential coronary heart disease susceptibility in the third-class airman population.

    Science.gov (United States)

    1972-07-01

    An analysis was made of an eight-year interval change in several Framingham Heart Study (FHS) indicators of coronary heart disease (CHD) susceptibility as measured on 475 male air traffic control (ATC) personnel. The initial measurements were obtaine...

  6. Executive Summary: Variation in Susceptibility to Ozone-Induced Health Effects in Rodent Models of Cardiometabolic Disease

    Science.gov (United States)

    Seven million premature deaths occur annually due to air pollution worldwide, of which ~80% are attributed to exacerbation of cardiovascular disease (CVD}, necessitating greater attention to understanding the causes of susceptibility to air pollution in this sector of population....

  7. Beyond disease susceptibility-Leveraging genome-wide association studies for new insights into complex disease biology.

    Science.gov (United States)

    Lee, J C

    2017-12-01

    Genetic studies in complex diseases have been highly successful, but have also been largely one-dimensional: predominantly focusing on the genetic contribution to disease susceptibility. While this is undoubtedly important-indeed it is a pre-requisite for understanding the mechanisms underlying disease development-there are many other important aspects of disease biology that have received comparatively little attention. In this review, I will discuss how existing genetic data can be leveraged to provide new insights into other aspects of disease biology, why such insights could change the way we think about complex disease, and how this could provide opportunities for better therapies and/or facilitate personalised medicine. To do this, I will use the example of Crohn's disease-a chronic form of inflammatory bowel disease that has been one of the main success stories in complex disease genetics. Indeed, thanks to genetic studies, we now have a much more detailed understanding of the processes involved in Crohn's disease development, but still know relatively little about what determines the subsequent disease course (prognosis) and why this differs so considerably between individuals. I will discuss how we came to realise that genetic variation plays an important role in determining disease prognosis and how this has changed the way we think about Crohn's disease genetics. This will illustrate how phenotypic data can be used to leverage new insights from genetic data and will provide a broadly applicable framework that could yield new insights into the biology of multiple diseases. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Peroxisome Proliferator-Activated Receptor Genetic Polymorphisms and Nonalcoholic Fatty Liver Disease: Any Role in Disease Susceptibility?

    Directory of Open Access Journals (Sweden)

    Paola Dongiovanni

    2013-01-01

    Full Text Available Nonalcoholic fatty liver disease (NAFLD defines a wide spectrum of liver diseases that extend from simple steatosis, that is, increased hepatic lipid content, to nonalcoholic steatohepatitis (NASH, a condition that may progress to cirrhosis with its associated complications. Nuclear hormone receptors act as intracellular lipid sensors that coordinate genetic networks regulating lipid metabolism and energy utilization. This family of transcription factors, in particular peroxisome proliferator-activated receptors (PPARs, represents attractive drug targets for the management of NAFLD and NASH, as well as related conditions such as type 2 diabetes and the metabolic syndrome. The impact on the regulation of lipid metabolism observed for PPARs has led to the hypothesis that genetic variants within the human PPARs genes may be associated with human disease such as NAFLD, the metabolic syndrome, and/or coronary heart disease. Here we review the available evidence on the association between PPARs genetic polymorphism and the susceptibility to NAFLD and NASH, and we provide a meta-analysis of the available evidence. The impact of PPAR variants on the susceptibility to NASH in specific subgroup of patients, and in particular on the response to therapies, especially those targeting PPARs, represents promising new areas of investigation.

  9. NFKBIZ polymorphisms and susceptibility to pneumococcal disease in European and African populations

    Science.gov (United States)

    Chapman, Stephen J; Khor, Chiea C; Vannberg, Fredrik O; Rautanen, Anna; Segal, Shelley; Moore, Catrin E; Davies, Robert J O; Day, Nicholas P; Peshu, Norbert; Crook, Derrick W; Berkley, James A; Williams, Thomas N; Scott, J Anthony; Hill, Adrian V S

    2011-01-01

    The proinflammatory transcription factor nuclear factor-kappaB (NF-κB) plays a central role in host defence against pneumococcal disease. Both rare mutations and common polymorphisms in the NFKBIA gene encoding the NF-κB inhibitor IκB-α associate with susceptibility to bacterial disease, but the possible role of polymorphisms within the related IκB-ζ gene NFKBIZ in the development of invasive pneumococcal disease has not previously been reported. To investigate this further, we examined the frequencies of 22 single-nucleotide polymorphisms spanning NFKBIZ in two case-control studies, comprising UK Caucasian (n=1008) and Kenyan (n=723) individuals. Nine polymorphisms within a single UK linkage disequilibrium block and all four polymorphisms within the equivalent, shorter Kenyan linkage disequilibrium block displayed either significant association with invasive pneumococcal disease or a trend towards association. For each polymorphism, heterozygosity was associated with protection from invasive pneumococcal disease when compared to the combined homozygous states (e.g. for rs600718, Mantel-Haenszel 2×2 χ2=7.576, P=0.006, OR=0.67, 95% CI for OR: 0.51-0.88; for rs616597, Mantel-Haenszel 2×2 χ2=8.715, P=0.003, OR=0.65, 95% CI: 0.49-0.86). We conclude that multiple NFKBIZ polymorphisms associate with susceptibility to invasive pneumococcal disease in humans. The study of multiple populations may aid fine-mapping of associations within extensive regions of strong linkage disequilibrium (‘transethnic mapping’). PMID:19798075

  10. Trypanosoma cruzi benznidazole susceptibility in vitro does not predict the therapeutic outcome of human Chagas disease

    Directory of Open Access Journals (Sweden)

    Margoth Moreno

    2010-11-01

    Full Text Available Therapeutic failure of benznidazole (BZ is widely documented in Chagas disease and has been primarily associated with variations in the drug susceptibility of Trypanosoma cruzi strains. In humans, therapeutic success has been assessed by the negativation of anti-T. cruzi antibodies, a process that may take up to 10 years. A protocol for early screening of the drug resistance of infective strains would be valuable for orienting physicians towards alternative therapies, with a combination of existing drugs or new anti-T. cruzi agents. We developed a procedure that couples the isolation of parasites by haemoculture with quantification of BZ susceptibility in the resultant epimastigote forms. BZ activity was standardized with reference strains, which showed IC50 to BZ between 7.6-32 µM. The assay was then applied to isolates from seven chronic patients prior to administration of BZ therapy. The IC50 of the strains varied from 15.6 ± 3-51.4 ± 1 µM. Comparison of BZ susceptibility of the pre-treatment isolates of patients considered cured by several criteria and of non-cured patients indicates that the assay does not predict therapeutic outcome. A two-fold increase in BZ resistance in the post-treatment isolates of two patients was verified. Based on the profile of nine microsatellite loci, sub-population selection in non-cured patients was ruled out.

  11. Association between LRP1 C766T polymorphism and Alzheimer's disease susceptibility: a meta-analysis.

    Science.gov (United States)

    Wang, Yun; Liu, Shengyuan; Wang, Jingjing; Zhang, Jie; Hua, Yaqiong; Li, Hua; Tan, Huibiao; Kuai, Bin; Wang, Biao; Sheng, Sitong

    2017-08-16

    Low density lipoprotein receptor-related protein 1 (LRP1) C766T polymorphism (rs1799986) has been extensively investigated for Alzheimer's disease (AD) susceptibility. However, results in different studies have been contradictory. Therefore, we conducted a meta-analysis containing 6455 AD cases and 6304 controls from 26 independent case-control studies to determine whether there was an association between the LRP1 C766T polymorphism and AD susceptibility. The combined analysis showed that there was no significant association between LRP1 C766T polymorphism and AD susceptibility (TT + CT versus CC: OR = 0.920, 95% CI = 0.817-1.037, P = 0.172). In subgroup analysis, significant decreased AD susceptibility was found among Asian population in allele model (T versus C: OR = 0.786, 95% CI = 0.635-0.974, P = 0.028) and dominant model (TT + CT versus CC: OR = 0.800, 95% CI = 0.647-0.990, P = 0.040). Moreover, T allele of LRP1 C766T was statistically associated with late onset of AD (LOAD) (T versus C: OR = 0.858, 95% CI = 0.748-0.985, P = 0.029; TT + CT versus CC: OR = 0.871, 95% CI = 0.763-0.994, P = 0.040). In conclusion, our meta-analysis suggested that LRP1 C766T polymorphism was associated with lower risk of AD in Asian, and could reduce LOAD risk especially. Considering some limitations of our meta-analysis, further large-scale studies should be done to reach a more comprehensive understanding.

  12. Beryllium and growth. II. The effect of beryllium on plant growth

    Energy Technology Data Exchange (ETDEWEB)

    Hoagland, M B

    1952-01-01

    Experiments were undertaken to determine whether beryllium could replace magnesium in a growing organism. This was stimulated by the several known growth effects of beryllium in animals and by the fact that beryllium apparently competes with magnesium for animal alkaline phosphatases. The following findings are noted: (1) beryllium can reduce the magnesium requirement of plants by some 60% within a certain range of magnesium deficiency. (2) The residual obligatory magnesium requirements is probably accounted for by chlorophyll since beryllium appears to have no primary effect on chlorophyll or chlorophyll production. (3) The pH of the nutrient solution is critical: at acid pH's, beryllium is highly toxic, and growth increase due to beryllium only appears at initial pH's above 11.2, although this initial pH rapidly falls to neutrality during the experimental period. 22 references, 4 figures, 1 table.

  13. Beryllium in aircraft brakes - a summary

    International Nuclear Information System (INIS)

    Zenczak, S.

    1977-01-01

    Beryllium has been in use in aircraft brakes for ten years. During the original design phases of the several aircraft programs using beryllium a number of problems requiring solution confronted the designers. In actual service the solution to these problems performed much better than had been anticipated. A summary is presented. (author)

  14. ICT diagnostic method of beryllium welding quality

    International Nuclear Information System (INIS)

    Sun Lingxia; Wei Kentang; Ye Yunchang

    2002-01-01

    To avoid the interference of high density material for the quality assay of beryllium welding line, a slice by slice scanning method was proposed based upon the research results of the Industrial Computerized Tomography (ICT) diagnostics for weld penetration, weld width, off-centered deviation and weld defects of beryllium-ring welding seam with high density material inside

  15. Investigation of beryllium/steam interaction

    Energy Technology Data Exchange (ETDEWEB)

    Chekhonadskikh, A.M.; Vurim, A.D.; Vasilyev, Yu.S.; Pivovarov, O.S. [Inst. of Atomic Energy National Nuclear Center of the Republic of Kazakstan Semipalatinsk (Kazakhstan); Shestakov, V.P.; Tazhibayeva, I.L.

    1998-01-01

    In this report program on investigations of beryllium emissivity and transient processes on overheated beryllium surface attacked by water steam to be carried out in IAE NNC RK within Task S81 TT 2096-07-16 FR. The experimental facility design is elaborated in this Report. (author)

  16. Modeling of hydrogen interactions with beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Longhurst, G.R. [Lockheed Martin Idaho Technologies Co., Idaho Falls, ID (United States)

    1998-01-01

    In this paper, improved mathematical models are developed for hydrogen interactions with beryllium. This includes the saturation effect observed for high-flux implantation of ions from plasmas and retention of tritium produced from neutronic transmutations in beryllium. Use of the models developed is justified by showing how they can replicated experimental data using the TMAP4 tritium transport code. (author)

  17. Structure investigations of some beryllium materials

    Energy Technology Data Exchange (ETDEWEB)

    Faeldt, I; Lagerberg, G

    1960-05-15

    Metallographic structure, microhardness and texture have been studied on various types of beryllium metal including hot pressed powder, a rolled strip and an extruded tube It was found that beryllium exhibits its highest hardness in directions perpendicular to the basal plane. Good ideas of the prevailing textures were obtained with an ordinary X-ray diffractometer.

  18. Some aspects of beryllium disposal in Kazakhstan

    International Nuclear Information System (INIS)

    Shestakov, V.; Chikhray, Y.; Shakhvorostov, Yr.

    2004-01-01

    Historically in Kazakhstan all disposals of used beryllium and beryllium wasted materials were stored and recycled at JSC ''Ulba Metallurgical Plant''. Since Ulba Metallurgical Plant (beside beryllium and tantalum production) is one of the world largest complex producers of fuel for nuclear power plants as well it has possibilities, technologies and experience in processing toxic and radioactive wastes related with those productions. At present time only one operating Kazakhstan research reactors (EWG1M in Kurchatov) contains beryllium made core. The results of current examination of that core allow using it without replacement long time yet (at least for next five-ten years). Nevertheless the problem how to utilize such irradiated beryllium becomes actual issue for Kazakhstan even today. Since Kazakhstan is the member of ITER/DEMO Reactors Projects and is permanently considered as possible provider of huge amount of beryllium for those reactors so that is the reason for starting studies of possibilities of large scale processing/recycling of such disposed irradiated beryllium. It is clear that the Ulba Metallurgical Plant is considered as the best site for it in Kazakhstan. The draft plan how to organize experimental studies of irradiated beryllium disposals in Kazakhstan involving National Nuclear Center, National University (Almaty), JSC ''Ulba Metallurgical Plant'' (Ust-Kamenogorsk) would be presented in this paper as well as proposals to arrange international collaboration in that field through ISTC (International Science Technology Center, Moscow). (author)

  19. Structure investigations of some beryllium materials

    International Nuclear Information System (INIS)

    Faeldt, I.; Lagerberg, G.

    1960-05-01

    Metallographic structure, microhardness and texture have been studied on various types of beryllium metal including hot pressed powder, a rolled strip and an extruded tube It was found that beryllium exhibits its highest hardness in directions perpendicular to the basal plane. Good ideas of the prevailing textures were obtained with an ordinary X-ray diffractometer

  20. Toxoplasmosis and Polygenic Disease Susceptibility Genes: Extensive Toxoplasma gondii Host/Pathogen Interactome Enrichment in Nine Psychiatric or Neurological Disorders

    Directory of Open Access Journals (Sweden)

    C. J. Carter

    2013-01-01

    Full Text Available Toxoplasma gondii is not only implicated in schizophrenia and related disorders, but also in Alzheimer's or Parkinson's disease, cancer, cardiac myopathies, and autoimmune disorders. During its life cycle, the pathogen interacts with ~3000 host genes or proteins. Susceptibility genes for multiple sclerosis, Alzheimer's disease, schizophrenia, bipolar disorder, depression, childhood obesity, Parkinson's disease, attention deficit hyperactivity disorder (multiple sclerosis, and autism (, but not anorexia or chronic fatigue are highly enriched in the human arm of this interactome and 18 (ADHD to 33% (MS of the susceptibility genes relate to it. The signalling pathways involved in the susceptibility gene/interactome overlaps are relatively specific and relevant to each disease suggesting a means whereby susceptibility genes could orient the attentions of a single pathogen towards disruption of the specific pathways that together contribute (positively or negatively to the endophenotypes of different diseases. Conditional protein knockdown, orchestrated by T. gondii proteins or antibodies binding to those of the host (pathogen derived autoimmunity and metabolite exchange, may contribute to this disruption. Susceptibility genes may thus be related to the causes and influencers of disease, rather than (and as well as to the disease itself.

  1. Immunochip analysis identification of 6 additional susceptibility loci for Crohn's disease in Koreans.

    Science.gov (United States)

    Yang, Suk-Kyun; Hong, Myunghee; Choi, Hyunchul; Zhao, Wanting; Jung, Yusun; Haritunians, Talin; Ye, Byong Duk; Kim, Kyung-Jo; Park, Sang Hyoung; Lee, Inchul; Kim, Won Ho; Cheon, Jae Hee; Kim, Young-Ho; Jang, Byung Ik; Kim, Hyun-Soo; Choi, Jai Hyun; Koo, Ja Seol; Lee, Ji Hyun; Jung, Sung-Ae; Shin, Hyoung Doo; Kang, Daehee; Youn, Hee-Shang; Taylor, Kent D; Rotter, Jerome I; Liu, Jianjun; McGovern, Dermot P B; Song, Kyuyoung

    2015-01-01

    Crohn's disease (CD) is an intractable inflammatory bowel disease of unknown cause. Recent genome-wide association studies of CD in Korean and Japanese populations suggested marginal sharing of susceptibility loci between Caucasian and Asian populations. As the 7 identified loci altogether explain 5.31% of the risk for CD, the objective of this study was to identify additional CD susceptibility loci in the Korean population. Using the ImmunoChip custom single-nucleotide polymorphism array designed for dense genotyping of 186 loci identified through GWAS, we analyzed 722 individuals with CD and 461 controls for 96,048 SNP markers in the discovery stage, followed by validation in an additional 948 affected individuals and 977 controls. We confirmed 6 previously reported loci in Caucasian: GPR35 at 2q37 (rs3749172; P = 5.30 × 10, odds ratio [OR] = 1.45), ZNF365 at 10q21 (rs224143; P = 2.20 × 10, OR = 1.38), ZMIZ1 at 10q22 (rs1250569; P = 3.05 × 10, OR = 1.30), NKX2-3 at 10q24 (rs4409764; P = 7.93 × 10, OR = 1.32), PTPN2 at 18p11 (rs514000; P = 9.00 × 10, OR = 1.33), and USP25 at 21q11 (rs2823256; P = 2.49 × 10, OR = 1.35), bringing the number of known CD loci (including 3 in the HLA) in Koreans to 15. The 6 additional loci increased the total genetic variance for CD risk from 5.31% to 7.27% in Koreans. Although the different genetic backgrounds of CD between Asian and Western countries has been well established for the major susceptibility genes, our findings of overlapping associations offer new insights into the genetic architecture of CD.

  2. KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis susceptibility

    Science.gov (United States)

    Ragazzo, Michele; Manzo, Laura; Costanza, Gaetana; Bowes, John; Hüffmeier, Ulrike; Potenza, Saverio; Sangiuolo, Federica; Reis, André; Barton, Anne; Novelli, Giuseppe; Orlandi, Augusto; Giardina, Emiliano

    2017-01-01

    To date, the genes associated with Psoriatic Arthritis (PsA) are principally involved in inflammation, immune response and epidermal differentiation, without any information about the relationship between disease and bone metabolism genes. Our work was focused on 5q31 locus, which contains several genetic variants significantly associated with PsA. The study involved 1526 subjects (500 PsA, 426 PsV, 600 controls). The region was evaluated by selecting and genotyping the SNPs of interest by Real Time PCR and direct sequencing. The results were subjected to biostatistic and bioinformatic analysis. The case-control study highlighted a significant association between KIF3A/IL-4 and PsA, but not with PsV (Psoriasis Vulgaris) patients. In addition, the haplotype analysis revealed two haplotypes significantly associated with PsA susceptibility. The Linkage Disequilibrium (LD) study showed the presence of a specific block in high LD within 132,692,628-132,737,638 bp of 5q31, giving additional evidence of specific association of the 5q31 region in PsA patients. Moreover, KIF3A expression was assessed by immunohistochemistry assays which showed a marked and significant difference of KIF3A expression between pathological and normal tissues. Our analysis described KIF3A and IL-4 as novel susceptibility genes for PsA, suggesting a clear implication of bone metabolism genes in the disease etiopathogenesis. PMID:29221136

  3. MAVS is not a Likely Susceptibility Locus for Addison's Disease and Type 1 Diabetes.

    Science.gov (United States)

    Zurawek, Magdalena; Fichna, Marta; Kazimierska, Marta; Fichna, Piotr; Dzikiewicz-Krawczyk, Agnieszka; Przybylski, Grzegorz; Ruchala, Marek; Nowak, Jerzy

    2017-06-01

    Mitochondrial antiviral signaling (MAVS) protein is an intracellular adaptor molecule, downstream of viral sensors, retinoid acid-inducible gene I (RIG-I)-like receptors (RLRs). Impaired antiviral cell signaling might contribute to autoimmunity. Studies have recently shown variations in genes encoding RLRs as risk factors for autoimmune diseases. We investigated whether MAVS coding polymorphisms are associated with Addison's disease (AD) and type 1 diabetes (T1D) in Polish population. We genotyped 140 AD, 532 T1D patients and 600 healthy controls for MAVS rs17857295, rs7262903, rs45437096 and rs7269320. Genotyping was performed by TaqMan assays. Distribution of the MAVS genotypes and alleles did not reveal significant differences between patients and controls (p > 0.05). This analysis did not indicate the association of the MAVS locus with susceptibility to AD and T1D.

  4. Association of TLR1, TLR2, TLR4, TLR6, and TIRAP polymorphisms with disease susceptibility.

    Science.gov (United States)

    Noreen, Mamoona; Arshad, Muhammad

    2015-06-01

    Toll like receptors (TLRs) play a crucial role in regulation of innate as well as adaptive immunity. TLRs recognize a distinct but limited repertoire of conserved microbial products. Ligand binding to TLRs activates the signaling cascade and results in activation of multiple inflammatory genes. Variation in this immune response is under genetic control. Polymorphisms in genes associated with inflammatory pathway especially influence the outcome of diseases. TLR2 makes heterodimer with TLR1 or TLR6 and recognizes a wide variety of microbial ligands. In this review, we summarize studies of polymorphisms in genes encoding TLR1, TLR2, TLR4, TLR6, and most polymorphic adaptor protein, Mal/TIRAP, revealing their effect on susceptibility to diseases.

  5. The status of beryllium technology for fusion

    Energy Technology Data Exchange (ETDEWEB)

    Scaffidi-Argentina, F.; Longhurst, G.R. E-mail: gx1@inel.gov; Shestakov, V.; Kawamura, H

    2000-12-01

    Beryllium was used for a number of years in the Joint European Torus (JET), and it is planned to be used extensively on the lower heat-flux surfaces of the reduced technical objective/reduced cost international thermonuclear experimental reactor (RTO/RC ITER). It has been included in various forms in a number of tritium breeding blanket designs. There are technical advantages but also a number of safety issues associated with the use of beryllium. Research in a variety of technical areas in recent years has revealed interesting issues concerning the use of beryllium in fusion. Progress in this research has been presented at a series of International Workshops on Beryllium Technology for Fusion. The most recent workshop was held in Karlsruhe, Germany on 15-17 September 1999. In this paper, a summary of findings presented there and their implications for the use of beryllium in the development of fusion reactors are presented.

  6. The status of beryllium technology for fusion

    International Nuclear Information System (INIS)

    Scaffidi-Argentina, F.; Longhurst, G.R.; Shestakov, V.; Kawamura, H.

    2000-01-01

    Beryllium was used for a number of years in the Joint European Torus (JET), and it is planned to be used extensively on the lower heat-flux surfaces of the reduced technical objective/reduced cost international thermonuclear experimental reactor (RTO/RC ITER). It has been included in various forms in a number of tritium breeding blanket designs. There are technical advantages but also a number of safety issues associated with the use of beryllium. Research in a variety of technical areas in recent years has revealed interesting issues concerning the use of beryllium in fusion. Progress in this research has been presented at a series of International Workshops on Beryllium Technology for Fusion. The most recent workshop was held in Karlsruhe, Germany on 15-17 September 1999. In this paper, a summary of findings presented there and their implications for the use of beryllium in the development of fusion reactors are presented

  7. BERYLLIUM MEASUREMENT IN COMMERCIALLY AVAILABLE WET WIPES

    Energy Technology Data Exchange (ETDEWEB)

    Youmans-Mcdonald, L.

    2011-02-18

    Analysis for beryllium by fluorescence is now an established method which is used in many government-run laboratories and commercial facilities. This study investigates the use of this technique using commercially available wet wipes. The fluorescence method is widely documented and has been approved as a standard test method by ASTM International and the National Institute for Occupational Safety and Health (NIOSH). The procedure involves dissolution of samples in aqueous ammonium bifluoride solution and then adding a small aliquot to a basic hydroxybenzoquinoline sulfonate fluorescent dye (Berylliant{trademark} Inc. Detection Solution Part No. CH-2) , and measuring the fluorescence. This method is specific to beryllium. This work explores the use of three different commercial wipes spiked with beryllium, as beryllium acetate or as beryllium oxide and subsequent analysis by optical fluorescence. The effect of possible interfering metals such as Fe, Ti and Pu in the wipe medium is also examined.

  8. Beryllium Measurement In Commercially Available Wet Wipes

    International Nuclear Information System (INIS)

    Youmans-Mcdonald, L.

    2011-01-01

    Analysis for beryllium by fluorescence is now an established method which is used in many government-run laboratories and commercial facilities. This study investigates the use of this technique using commercially available wet wipes. The fluorescence method is widely documented and has been approved as a standard test method by ASTM International and the National Institute for Occupational Safety and Health (NIOSH). The procedure involves dissolution of samples in aqueous ammonium bifluoride solution and then adding a small aliquot to a basic hydroxybenzoquinoline sulfonate fluorescent dye (Berylliant(trademark) Inc. Detection Solution Part No. CH-2) , and measuring the fluorescence. This method is specific to beryllium. This work explores the use of three different commercial wipes spiked with beryllium, as beryllium acetate or as beryllium oxide and subsequent analysis by optical fluorescence. The effect of possible interfering metals such as Fe, Ti and Pu in the wipe medium is also examined.

  9. Assessment of LANL beryllium waste management documentation

    International Nuclear Information System (INIS)

    Danna, J.G.; Jennrich, E.A.; Lund, D.M.; Davis, K.D.; Hoevemeyer, S.S.

    1991-04-01

    The objective of this report is to determine present status of the preparation and implementation of the various high priority documents required to properly manage the beryllium waste generated at the Laboratory. The documents being assessed are: Waste Acceptance Criteria, Waste Characterization Plan, Waste Certification Plan, Waste Acceptance Procedures, Waste Characterization Procedures, Waste Certification Procedures, Waste Training Procedures and Waste Recordkeeping Procedures. Beryllium is regulated (as a dust) under 40 CFR 261.33 as ''Discarded commercial chemical products, off specification species, container residues and spill residues thereof.'' Beryllium is also identified in the 3rd thirds ruling of June 1, 1990 as being restricted from land disposal (as a dust). The beryllium waste generated at the Laboratory is handled separately because beryllium has been identified as a highly toxic carcinogenic material

  10. Beryllium for fusion application - recent results

    International Nuclear Information System (INIS)

    Khomutov, A.; Barabash, V.; Chakin, V.; Chernov, V.; Davydov, D.; Gorokhov, V.; Kawamura, H.; Kolbasov, B.; Kupriyanov, I.; Longhurst, G.; Scaffidi-Argentina, F.; Shestakov, V.

    2002-01-01

    The main issues for the application of beryllium in fusion reactors are analyzed taking into account the latest results since the ICFRM-9 (Colorado, USA, October 1999) and presented at 5th IEA Be Workshop (10-12 October 2001, Moscow Russia). Considerable progress has been made recently in understanding the problems connected with the selection of the beryllium grades for different applications, characterization of the beryllium at relevant operational conditions (irradiation effects, thermal fatigue, etc.), and development of required manufacturing technologies. The key remaining problems related to the application of beryllium as an armour in near-term fusion reactors (e.g. ITER) are discussed. The features of the application of beryllium and beryllides as a neutron multiplier in the breeder blanket for power reactors (e.g. DEMO) in pebble-bed form are described

  11. Beryllium for fusion application - recent results

    Science.gov (United States)

    Khomutov, A.; Barabash, V.; Chakin, V.; Chernov, V.; Davydov, D.; Gorokhov, V.; Kawamura, H.; Kolbasov, B.; Kupriyanov, I.; Longhurst, G.; Scaffidi-Argentina, F.; Shestakov, V.

    2002-12-01

    The main issues for the application of beryllium in fusion reactors are analyzed taking into account the latest results since the ICFRM-9 (Colorado, USA, October 1999) and presented at 5th IEA Be Workshop (10-12 October 2001, Moscow Russia). Considerable progress has been made recently in understanding the problems connected with the selection of the beryllium grades for different applications, characterization of the beryllium at relevant operational conditions (irradiation effects, thermal fatigue, etc.), and development of required manufacturing technologies. The key remaining problems related to the application of beryllium as an armour in near-term fusion reactors (e.g. ITER) are discussed. The features of the application of beryllium and beryllides as a neutron multiplier in the breeder blanket for power reactors (e.g. DEMO) in pebble-bed form are described.

  12. Beryllium coating on Inconel tiles

    International Nuclear Information System (INIS)

    Bailescu, V.; Burcea, G.; Lungu, C.P.; Mustata, I.; Lungu, A.M.; Rubel, M.; Coad, J.P.; Matthews, G.; Pedrick, L.; Handley, R.

    2007-01-01

    Full text of publication follows: The Joint European Torus (JET) is a large experimental nuclear fusion device. Its aim is to confine and study the behaviour of plasma in conditions and dimensions approaching those required for a fusion reactor. The plasma is created in the toroidal shaped vacuum vessel of the machine in which it is confined by magnetic fields. In preparation for ITER a new ITER-like Wall (ILW) will be installed on Joint European Torus (JET), a wall not having any carbon facing the plasma [1]. In places Inconel tiles are to be installed, these tiles shall be coated with Beryllium. MEdC represented by the National Institute for Laser, Plasma and Radiation Physics, Magurele, Bucharest and in direct cooperation with Nuclear Fuel Plant Pitesti started to coat Inconel tiles with 8 μm of Beryllium in accordance with the requirements of technical specification and fit for installation in the JET machine. This contribution provides an overview of the principles of manufacturing processes using thermal evaporation method in vacuum and the properties of the prepared coatings. The optimization of the manufacturing process (layer thickness, structure and purity) has been carried out on Inconel substrates (polished and sand blasted) The results of the optimization process and analysis (SEM, TEM, XRD, Auger, RBS, AFM) of the coatings will be presented. Reference [1] Takeshi Hirai, H. Maier, M. Rubel, Ph. Mertens, R. Neu, O. Neubauer, E. Gauthier, J. Likonen, C. Lungu, G. Maddaluno, G. F. Matthews, R. Mitteau, G. Piazza, V. Philipps, B. Riccardi, C. Ruset, I. Uytdenhouwen, R and D on full tungsten divertor and beryllium wall for JET TIER-like Wall Project, 24. Symposium on Fusion Technology - 11-15 September 2006 -Warsaw, Poland. (authors)

  13. Postirradiation examination of beryllium pebbles

    International Nuclear Information System (INIS)

    Gelles, D.S.

    1998-01-01

    Postirradiation examinations of COBRA-1A beryllium pebbles irradiated in the EBR-II fast reactor at neutron fluences which generated 2700--3700 appm helium have been performed. Measurements included density change, optical microscopy, scanning electron microscopy, and transmission electron microscopy. The major change in microstructure is development of unusually shaped helium bubbles forming as highly non-equiaxed thin platelet-like cavities on the basal plane. Measurement of the swelling due to cavity formation was in good agreement with density change measurements

  14. How glyphosate affects plant disease development: it is more than enhanced susceptibility.

    Science.gov (United States)

    Hammerschmidt, Ray

    2018-05-01

    Glyphosate has been shown to affect the development of plant disease in several ways. Plants utilize phenolic and other shikimic acid pathway-derived compounds as part of their defense against pathogens, and glyphosate inhibits the biosynthesis of these compounds via its mode of action. Several studies have shown a correlation between enhanced disease and suppression of phenolic compound production after glyphosate. Glyphosate-resistant crop plants have also been studied for changes in resistance as a result of carrying the glyphosate resistance trait. The evidence indicates that neither the resistance trait nor application of glyphosate to glyphosate-resistant plants increases susceptibility to disease. The only exceptions to this are cases where glyphosate has been shown to reduce rust diseases on glyphosate-resistant crops, supporting a fungicidal role for this chemical. Finally, glyphosate treatment of weeds or volunteer crops can cause a temporary increase in soil-borne pathogens that may result in disease development if crops are planted too soon after glyphosate application. © 2017 Society of Chemical Industry. © 2017 Society of Chemical Industry.

  15. Polymorphisms in miRNA genes and their involvement in autoimmune diseases susceptibility.

    Science.gov (United States)

    Latini, Andrea; Ciccacci, Cinzia; Novelli, Giuseppe; Borgiani, Paola

    2017-08-01

    MicroRNAs (miRNAs) are small non-coding RNA molecules that negatively regulate the expression of multiple protein-encoding genes at the post-transcriptional level. MicroRNAs are involved in different pathways, such as cellular proliferation and differentiation, signal transduction and inflammation, and play crucial roles in the development of several diseases, such as cancer, diabetes, and cardiovascular diseases. They have recently been recognized to play a role also in the pathogenesis of autoimmune diseases. Although the majority of studies are focused on miRNA expression profiles investigation, a growing number of studies have been investigating the role of polymorphisms in miRNA genes in the autoimmune diseases development. Indeed, polymorphisms affecting the miRNA genes can modify the set of targets they regulate or the maturation efficiency. This review is aimed to give an overview about the available studies that have investigated the association of miRNA gene polymorphisms with the susceptibility to various autoimmune diseases and to their clinical phenotypes.

  16. Technical issues for beryllium use in fusion blanket applications

    International Nuclear Information System (INIS)

    McCarville, T.J.; Berwald, D.H.; Wolfer, W.; Fulton, F.J.; Lee, J.D.; Maninger, R.C.; Moir, R.W.; Beeston, J.M.; Miller, L.G.

    1985-01-01

    Beryllium is an excellent non-fissioning neutron multiplier for fusion breeder and fusion electric blanket applications. This report is a compilation of information related to the use of beryllium with primary emphasis on the fusion breeder application. Beryllium resources, production, fabrication, properties, radiation damage and activation are discussed. A new theoretical model for beryllium swelling is presented

  17. Production of beryllium oxide of nuclear purity from beryl

    Energy Technology Data Exchange (ETDEWEB)

    Copat, A; Sood, S P

    1984-01-01

    Production of beryllium oxide from beryl by the fluoride process was optimized in this study. Optimum results were obtained using a mixture of sodium hexafluorsilicate and sodium hexafluorferrate as flux and calcinating at 740/sup 0/C for 2 hours. The beryllium concentrate produced was further purified by crystallization as beryllium sulfate to obtain nuclear grade beryllium oxide

  18. Production of beryllium oxide of nuclear purity from beryl

    International Nuclear Information System (INIS)

    Copat, A.; Sood, S.P.

    1983-01-01

    Production of beryllium oxide from beryl by the fluoride process was optimized in this study. Optimum results were obtained using a mixture of sodium hexafluorsilicate and sodium hexafluorferrate as flux and calcinating at 740 0 C for 2 hours. The beryllium concentrate produced was further purified by crystallization as beryllium sulfate to obtain nuclear grade beryllium oxide (Author) [pt

  19. Mannose-binding lectin gene, MBL2, polymorphisms are not associated with susceptibility to invasive pneumococcal disease in children

    DEFF Research Database (Denmark)

    Lundbo, Lene Fogt; Harboe, Zitta Barrella; Clausen, Louise Nygaard

    2014-01-01

    BACKGROUND: Most children are transiently colonized with Streptococcus pneumoniae, but very few develop invasive pneumococcal disease (IPD). Host genetic variation of innate immunity may predispose to IPD. We investigated the effect of genetic variation in the mannose-binding lectin gene, MBL2......, on susceptibility and disease severity of IPD in previously healthy children aged

  20. Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK in disease susceptibility.

    Directory of Open Access Journals (Sweden)

    Chia-Jung Chang

    Full Text Available The BLK and CD40 loci have been associated with Kawasaki disease (KD in two genome-wide association studies (GWAS conducted in a Taiwanese population of Han Chinese ancestry (Taiwanese and in Japanese cohorts. Here we build on these findings with replication studies of the BLK and CD40 loci in populations of Korean and European descent. The BLK region was significantly associated with KD susceptibility in both populations. Within the BLK gene the rs2736340-located linkage disequilibrium (LD comprising the promoter and first intron was strongly associated with KD, with the combined results of Asian studies including Taiwanese, Japanese, and Korean populations (2,539 KD patients and 7,021 controls providing very compelling evidence of association (rs2736340, OR = 1.498, 1.354-1.657; P = 4.74×10(-31. We determined the percentage of B cells present in the peripheral blood mononuclear cell (PBMC population and the expression of BLK in the peripheral blood leukocytes (leukocytes of KD patients during the acute and convalescent stages. The percentage of B cells in the PBMC population and the expression of BLK in leukocytes were induced in patients in the acute stage of KD. In B cell lines derived from KD patients, and in purified B cells from KD patients obtained during the acute stage, those with the risk allele of rs2736340 expressed significantly lower levels of BLK. These results suggest that peripheral B cells play a pathogenic role during the acute stage of KD. Decreased BLK expression in peripheral blood B cells may alter B cell function and predispose individuals to KD. These associative data suggest a role for B cells during acute KD. Understanding the functional implications may facilitate the development of B cell-mediated therapy for KD.

  1. Antimicrobial Susceptibility of Bacteria That Cause Bovine Respiratory Disease Complex in Alberta, Canada

    Directory of Open Access Journals (Sweden)

    R. Michele Anholt

    2017-12-01

    Full Text Available Bovine respiratory disease (BRD is the most important illness of feedlot cattle. Disease management targets the associated bacterial pathogens, Mannheimia haemolytica, Mycoplasma bovis, Pasteurella multocida, Histophilus somni, and Trueperella pyogenes. We conducted a cross-sectional study to measure the frequencies of antimicrobial-resistant BRD pathogens using a collaborative network of veterinarians, industry, government, and a diagnostic laboratory. Seven private veterinary practices in southern Alberta collected samples from both living and dead BRD-affected animals at commercial feedlots. Susceptibility testing of 745 isolates showed that 100% of the M. haemolytica, M. bovis, P. multocida, and T. pyogenes isolates and 66.7% of the H. somni isolates were resistant to at least one antimicrobial class. Resistance to macrolide antimicrobials (90.2% of all isolates was notable for their importance to beef production and human medicine. Multidrug resistance (MDR was high in all target pathogens with 47.2% of the isolates resistant to four or five antimicrobial classes and 24.0% resistance to six to nine classes. We compared the MDR profiles of isolates from two feedlots serviced by different veterinary practices. Differences in the average number of resistant classes were found for M. haemolytica (p < 0.001 and P. multocida (p = 0.002. Compared to previous studies, this study suggests an increasing trend of resistance in BRD pathogens against the antimicrobials used to manage the disease in Alberta. For the veterinary clinician, the results emphasize the importance of ongoing susceptibility testing of BRD pathogens to inform treatment protocols. Surveillance studies that collect additional epidemiological information and manage sampling bias will be necessary to develop strategies to limit the spread of resistance.

  2. Mechanical properties of irradiated beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Beeston, J.M.; Longhurst, G.R.; Wallace, R.S. (EG and G Idaho, Inc., Idaho Falls, ID (United States). Idaho National Engineering Lab.); Abeln, S.P. (EG and G Rocky Flats, Inc., Golden, CO (United States))

    1992-10-01

    Beryllium is planned for use as a neutron multiplier in the tritium breeding blanket of the International Thermonuclear Experimental Reactor (ITER). After fabricating samples of beryllium at densities varying from 80 to 100% of the theoretical density, we conducted a series of experiments to measure the effect of neutron irradiation on mechanical properties, especially strength and ductility. Samples were irradiated in the Advanced Test Reactor (ATR) to a neutron fluence of 2.6 x 10[sup 25] n/m[sup 2] (E > MeV) at an irradiation temperature of 75deg C. These samples were subsequently compression-tested at room temperature, and the results were compared with similar tests on unirradiated specimens. We found that the irradiation increased the strength by approximately four times and reduced the ductility to approximately one fourth. Failure was generally ductile, but the 80% dense irradiated samples failed in brittle fracture with significant generation of fine particles and release of small quantities of tritium. (orig.).

  3. ANTIMICROBIAL SUSCEPTIBILITY PROFILE OF MICROBIAL PATHOGENS ISOLATED FROM CALVES WITH RESPIRATORY DISEASES

    Directory of Open Access Journals (Sweden)

    George Cosmin Nadas

    2016-11-01

    Full Text Available Introduction: Respiratory disease in calves is an actual problem, a major cause of economic losses due to mortality, growth delay and improper development. These conditions are frequent in calves due to the weaning stress, transport and environmental changes. Aims: The aim of this study was the isolation of bacteria from 30 calves with respiratory disorders and their antibiotic susceptibility testing. Materials and methods: Samples were collected from calves with respiratory disorders (nasal discharge aged 6 to 9 weeks in 2 series, using sterile swabs. Samples were initially inoculated on blood agar and MacConkey agar following the characteristics of the colonies and microscopic examination that enabled the identification of bacterial species. Isolated strains were used to flood Mueller-Hinton agar to carry out sensitivity testing. The antibiotics tested were represented by: Amoxicillin with clavulanic acid, Gentamicin, Florfenicol, Enrofloxacin, Marbofloxacin, Penicillin G, Cefquinone, Tulathromycin, Ceftiofur, Tylosin and Cephalotin. Results: Genus Streptococcus have been identified in 23 samples, followed by Staphylococcus identified in 14 samples, and Bacillus spp., in 10 nasal swabs; The most common bacteria associations were represented by Streptococcus-Staphylococcus, Streptococcus-Staphylococcus-Bacillus, and Streptococcus-E.coli. The most efficient antibiotic was Cefquinome (Cobactan, followed by Penicillin G and Amoxicillin with clavulanic acid (Amoxiclav; the least effective antibiotics were Florfenicol and Tulathromycin. Conclusions: The study carried out on nasal discharge samples collected from calves with respiratory disorders and their antimicrobial profile testing led to the following conclusions: 1 Low susceptibility to Florfenicol is caused by previous treatments when this molecule was excessively used and without prior sensitivity testing. 2 Cefquinome may represent an emergency therapeutic antibiotic for respiratory

  4. Impact of MCP-1 and CCR-2 gene polymorphisms on coronary artery disease susceptibility.

    Science.gov (United States)

    Lin, Hsiu-Ling; Ueng, Kwo-Chang; Hsieh, Yih-Shou; Chiang, Whei-Ling; Yang, Shun-Fa; Chu, Shu-Chen

    2012-09-01

    Coronary artery disease (CAD) was the second leading cause of death during the last 3 years in Taiwan. Smooth muscle cells, monocytes/macrophages, and endothelial cells produce monocyte chemoattractant protein-1 (MCP-1) within atherosclerotic plaques following binding to the chemokine receptor-2 (CCR-2). Previous studies have well-documented the association between MCP-1 expression and susceptibility to, or clinicopathological features, of CAD. This study investigated the relationships between MCP-1-2518A/G and CCR-2-V64I genetic polymorphisms and CAD in the Taiwanese population. A total of 608 subjects, including 392 non-CAD controls and 216 patients with CAD, were recruited and subjected to polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to evaluate the effects of these two polymorphic variants on CAD. Results indicated a significant association between MCP-1 -2548 gene polymorphism and susceptibility to CAD. GG genotypes (OR = 1.629; 95 % CI = 1.003-2.644), or individuals with at least one G allele (OR = 1.511; 95 % CI = 1.006-2.270), had a higher risk of CAD as compared with AA genotypes. Results also revealed that subjects with at least one A allele of the V64I CCR2 gene polymorphism had significantly increased risk of CAD. G allele in MCP-1-2518 might contribute to higher prevalence of atrial fibrillation in CAD patients (OR = 4.254; p CCR-2 64I gene polymorphisms represent important factors in determining susceptibility to CAD, and the contribution of MCP-1-2518G could be through effects on atrial fibrillation in CAD patients.

  5. Urbanized South Asians' susceptibility to coronary heart disease: The high-heat food preparation hypothesis.

    Science.gov (United States)

    Kakde, Smitha; Bhopal, Raj S; Bhardwaj, Swati; Misra, Anoop

    2017-01-01

    Known risk factors do not fully explain the comparatively high susceptibility to coronary heart disease (CHD) in South Asians (Indian, Pakistani, Bangladeshi, and Sri Lankan populations in South Asia and overseas). The search for explanatory hypotheses and cofactors that raise susceptibility of South Asians to CHD continues. The aim of this study was to propose "the high-heat food preparation hypothesis," where neo-formed contaminants (NFCs) such as trans-fatty acids (TFAs) and advanced glycation end-products (AGEs) are the cofactors. We reviewed the actions of AGEs and TFAs, the burden of these products in tissues and blood in South Asians, the relationship between these products and CHD, the effects of preparing food and reheating oils at high temperatures on NFCs, and the foods and mode of preparation in South Asian and Chinese cuisines. Animal and human studies show NFCs increase the risk for CHD. Evidence on the consumption and body burden of these products across ethnic groups is not available, and comparable data on the NFC content of the cuisine of South Asians and potential comparison populations (e.g., the Chinese with lower CHD rates) are limited. South Asians' cuisine is dominated by frying and roasting techniques that use high temperatures. South Asian foods have high TFA content primarily through the use of partially hydrogenated fats, reheated oils, and high-heat cooking. Reheating oils greatly increases the TFA content. In comparison, Chinese cuisine involves mostly braising, steaming, and boiling rather than frying. We hypothesize that South Asians' susceptibility to CHD is partly attributable to high-heat treated foods producing high NFCs. Research to accrue direct evidence is proposed. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Differential Disease Susceptibilities in Experimentally Reptarenavirus-Infected Boa Constrictors and Ball Pythons

    Science.gov (United States)

    Sanchez-Migallon Guzman, David; Garcia, Valentina E.; Layton, Marylee L.; Hoon-Hanks, Laura L.; Boback, Scott M.; Keel, M. Kevin; Drazenovich, Tracy

    2017-01-01

    .e., to identify organisms that appear to cause disease, but to be certain that a candidate pathogen actually causes disease, it is necessary to provide additional evidence of causality. We have done this to demonstrate that reptarenaviruses cause inclusion body disease (IBD), a serious transmissible disease of snakes. We infected boa constrictors and ball pythons with purified reptarenavirus. Ball pythons fell ill within 2 months of infection and displayed signs of neurological disease typical of IBD. In contrast, boa constrictors remained healthy over 2 years, despite high levels of virus throughout their bodies. This difference matches previous reports that pythons are more susceptible to IBD than boas and could reflect the possibility that boas are natural hosts of these viruses in the wild. PMID:28515291

  7. Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease

    DEFF Research Database (Denmark)

    Baillie, J Kenneth; Bretherick, Andrew; Haley, Christopher S

    2018-01-01

    Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns...... the regulation of the OCT1 cation transporter and genetic variants underlying circulating cholesterol levels. NDA strongly implicates particular cell types and tissues in disease pathogenesis. For example, distinct groupings of disease-associated regulatory regions implicate two distinct biological processes...... in the pathogenesis of ulcerative colitis; a further two separate processes are implicated in Crohn's disease. Thus, our functional analysis of genetic predisposition to disease defines new distinct disease endotypes. We predict that patients with a preponderance of susceptibility variants in each group are likely...

  8. Detection of Marek's disease virus DNA in Japanese quail susceptible to atherosclerosis

    International Nuclear Information System (INIS)

    Pyrzak, R.; Shih, J.C.H.

    1986-01-01

    Marek's disease virus (MDV) was demonstrated as an etiological agent which causes atherosclerosis in the chicken. Since herpes viruses are ubiquitous, incidences of viral atherogenesis in humans and other animals were speculated. In this laboratory, the atherosclerosis susceptible (SUS) and resistant (RES) Japanese quail were developed as the animal model for atherosclerosis research. The susceptibility of the animal might be due to an infection of MDV or a related quail herpes virus (QHV). An initial attempt to isolate viruses from quail and an agar gel precipitin test for MDC were not positive. A DNA hybridization technique was used to determine whether the MDC-DNA existed in the quail cell. The gene library of MDV EcoRl DNA fragments was used to prepare the DNA probe, labeled with [ 32 P] by nick translation. Dot hybridizations were carried out by mixing the MDV-DNA probe with DNAs isolated from quail tissues. A high stringent condition was used. From this experiment it was found that the tissues from the SUS quail were hybridization positive, but most of them from RES quail were negative. When aortas were compared, the severe atherosclerotic had a strong hybridization (3-4 cop. of genome/cell) whereas the others hybridized moderately (1 cop./cell). It was concluded that genes from MDV or a QHV indeed existed in Japanese quail

  9. Barley disease susceptibility factor RACB acts in epidermal cell polarity and positioning of the nucleus.

    Science.gov (United States)

    Scheler, Björn; Schnepf, Vera; Galgenmüller, Carolina; Ranf, Stefanie; Hückelhoven, Ralph

    2016-05-01

    RHO GTPases are regulators of cell polarity and immunity in eukaryotes. In plants, RHO-like RAC/ROP GTPases are regulators of cell shaping, hormone responses, and responses to microbial pathogens. The barley (Hordeum vulgare L.) RAC/ROP protein RACB is required for full susceptibility to penetration by Blumeria graminis f.sp. hordei (Bgh), the barley powdery mildew fungus. Disease susceptibility factors often control host immune responses. Here we show that RACB does not interfere with early microbe-associated molecular pattern-triggered immune responses such as the oxidative burst or activation of mitogen-activated protein kinases. RACB also supports rather than restricts expression of defence-related genes in barley. Instead, silencing of RACB expression by RNAi leads to defects in cell polarity. In particular, initiation and maintenance of root hair growth and development of stomatal subsidiary cells by asymmetric cell division is affected by silencing expression of RACB. Nucleus migration is a common factor of developmental cell polarity and cell-autonomous interaction with Bgh RACB is required for positioning of the nucleus near the site of attack from Bgh We therefore suggest that Bgh profits from RACB's function in cell polarity rather than from immunity-regulating functions of RACB. © The Author 2016. Published by Oxford University Press on behalf of the Society for Experimental Biology.

  10. Association between Toll-like receptor 4 Asp299Gly polymorphism and coronary heart disease susceptibility.

    Science.gov (United States)

    Wu, B W; Zhu, J; Shi, H M; Jin, B; Wen, Z C

    2017-08-07

    Published data on the association between Toll-like receptor 4 (TLR4) Asp299Gly polymorphism and coronary heart disease (CHD) susceptibility are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. English-language studies were identified by searching PubMed and Embase databases (up to November 2016). All epidemiological studies were regarding Caucasians because no TLR4 Asp/Gly and Gly/Gly genotypes have been detected in Asians. A total of 20 case-control studies involving 14,416 cases and 10,764 controls were included in the meta-analysis. Overall, no significant associations were found between TLR4 Asp299Gly polymorphism and CHD susceptibility in the dominant model (OR=0.89; 95%CI=0.74 to 1.06; P=0.20) pooled in the meta-analysis. In the subgroup analysis by CHD, non-significant associations were found in cases compared to controls. When stratified by control source, no significantly decreased risk was found in the additive model or dominant model. The present meta-analysis suggests that the TLR4 Asp299Gly polymorphism was not associated with decreased CHD risk in Caucasians.

  11. Fluorimetric method for determination of Beryllium

    International Nuclear Information System (INIS)

    Sparacino, N.; Sabbioneda, S.

    1996-10-01

    The old fluorimetric method for the determination of Beryllium, based essentially on the fluorescence of the Beryllium-Morine complex in a strongly alkaline solution, is still competitive and stands the comparison with more modern methods or at least three reasons: in the presence of solid or gaseous samples (powders), the times necessary to finalize an analytic determination are comparable since the stage of the process which lasts the longest is the mineralization of the solid particles containing Beryllium, the cost of a good fluorimeter is by far Inferior to the cost, e. g., of an Emission Spectrophotometer provided with ICP torch and magnets for exploiting the Zeeman effect and of an Atomic absorption Spectrophotometer provided with Graphite furnace; it is possible to determine, fluorimetrically, rather small Beryllium levels (about 30 ng of Beryllium/sample), this potentiality is more than sufficient to guarantee the respect of all the work safety and hygiene rules now in force. The study which is the subject of this publication is designed to the analysis procedure which allows one to reach good results in the determination of Beryllium, chiefly through the control and measurement of the interference effect due to the presence of some metals which might accompany the environmental samples of workshops and laboratories where Beryllium is handled, either at the pure state or in its alloys. The results obtained satisfactorily point out the merits and limits of this analytic procedure

  12. Research of flaw assessment methods for beryllium reflector elements

    International Nuclear Information System (INIS)

    Shibata, Akira; Ito, Masayasu; Takemoto, Noriyuki; Tanimoto, Masataka; Tsuchiya, Kunihiko; Nakatsuka, Masafumi; Ohara, Hiroshi; Kodama, Mitsuhiro

    2012-02-01

    Reflector elements made from metal beryllium is widely used as neutron reflectors to increase neutron flux in test reactors. When beryllium reflector elements are irradiated by neutron, bending of reflector elements caused by swelling occurs, and beryllium reflector elements must be replaced in several years. In this report, literature search and investigation for non-destructive inspection of Beryllium and experiments for Preliminary inspection to establish post irradiation examination method for research of characteristics of metal beryllium under neutron irradiation were reported. (author)

  13. Preliminary proposal for a beryllium technology program for fusion applications

    International Nuclear Information System (INIS)

    1985-02-01

    The program was designed to provide the answers to the critical issues of beryllium technology needed in fusion blanket designs. The four tasks are as follows: (1) Beryllium property measurements needed for fusion data base. (2) Beryllium stress relaxation and creep measurements for lifetime modelling calculations. (3) Simplified recycle technique development for irradiated beryllium. (4) Beryllium neutron multiplier measurements using manganese bath absolute calibration techniques

  14. A model to estimate effects of SNPs on host susceptibility and infectivity for an endemic infectious disease.

    Science.gov (United States)

    Biemans, Floor; de Jong, Mart C M; Bijma, Piter

    2017-06-30

    Infectious diseases in farm animals affect animal health, decrease animal welfare and can affect human health. Selection and breeding of host individuals with desirable traits regarding infectious diseases can help to fight disease transmission, which is affected by two types of (genetic) traits: host susceptibility and host infectivity. Quantitative genetic studies on infectious diseases generally connect an individual's disease status to its own genotype, and therefore capture genetic effects on susceptibility only. However, they usually ignore variation in exposure to infectious herd mates, which may limit the accuracy of estimates of genetic effects on susceptibility. Moreover, genetic effects on infectivity will exist as well. Thus, to design optimal breeding strategies, it is essential that genetic effects on infectivity are quantified. Given the potential importance of genetic effects on infectivity, we set out to develop a model to estimate the effect of single nucleotide polymorphisms (SNPs) on both host susceptibility and host infectivity. To evaluate the quality of the resulting SNP effect estimates, we simulated an endemic disease in 10 groups of 100 individuals, and recorded time-series data on individual disease status. We quantified bias and precision of the estimates for different sizes of SNP effects, and identified the optimum recording interval when the number of records is limited. We present a generalized linear mixed model to estimate the effect of SNPs on both host susceptibility and host infectivity. SNP effects were on average slightly underestimated, i.e. estimates were conservative. Estimates were less precise for infectivity than for susceptibility. Given our sample size, the power to estimate SNP effects for susceptibility was 100% for differences between genotypes of a factor 1.56 or more, and was higher than 60% for infectivity for differences between genotypes of a factor 4 or more. When disease status was recorded 11 times on each

  15. Recommended design correlations for S-65 beryllium

    International Nuclear Information System (INIS)

    Billone, M.C.

    1995-01-01

    The properties of tritium and helium behavior in irradiated beryllium are reviewed, along with the thermal-mechanical properties needed for ITER design analysis. Correlations are developed to describe the performance of beryllium in a fusion reactor environment. While this paper focuses on the use of beryllium as a plasma-facing component (PFC) material, the correlations presented here can also be used to describe the performance of beryllium as a neutron multiplier for a tritium breeding blanket. The performance properties for beryllium are subdivided into two categories: properties which do not change with irradiation damage to the bulk of the material; and properties which are degraded by neutron irradiation. The irradiation-independent properties described within are: thermal conductivity, specific heat capacity, thermal expansion, and elastic constants. Irradiation-dependent properties include: yield strength, ultimate tensile strength, plastic tangent modulus, uniform and total tensile elongation, thermal and irradiation-induced creep strength, He-induced swelling and tritium retention/release. The approach taken in developing properties correlations is to describe the behavior of dense, pressed S-65 beryllium -- the material chosen for ITER PFC application -- as a function of temperature. As there are essentially no data on the performance of porous and/or irradiated S-65 beryllium, the degradation of properties with as-fabricated porosity and irradiation are determined from the broad data base on S-200F, as well as other types and grades, and applied to S-65 beryllium by scaling factors. The resulting correlations can be used for Be produced by vacuum hot pressing (VHP) and cold-pressing (CP)/sintering(S)/hot-isostatic-pressing (HIP). The performance of plasma-sprayed beryllium is discussed but not quantified

  16. Beryllium and growth. III. The effect of beryllium on plant phosphatase

    Energy Technology Data Exchange (ETDEWEB)

    Hoagland, M B

    1952-01-01

    The purpose of the investigations was to correlate the apparent ability of beryllium to substitute for magnesium in plant growth with a specific biochemical effect of the metal. Through association with earlier work on beryllium inhibition of animal alkaline phosphatase, a study was made of the effect of beryllium and other metals upon the activity of a phosphatase derived from tomato leaves. Although only indirect evidence is available that this enzyme system was magnesium-activated, beryllium was found to inhibit reversibly the splitting of GP and ATP. Other metals were also found to be inhibitory but the ATP-ase inhibition - and especially the ratio of P split from GP to P split from ATP - was higher for beryllium than for any other metal studied. The significance of this finding in relation to energy metabolism, growth, and beryllium toxicity is discussed. 12 references, 5 figures, 2 tables.

  17. Spectrographic measurement of beryllium in the atmosphere; Dosage spectrographique du beryllium dans l'atmosphere

    Energy Technology Data Exchange (ETDEWEB)

    Artaud, J; Cittanova, J [Commissariat a l' Energie Atomique, Service d' Analyses et Recherches Chimiques Appliquees, Saclay (France). Centre d' Etudes Nucleaires; Crehange, G; Frequelin, S [Commissariat a l' Energie Atomique, Dir. des Applications Militaires, Service Chimie, Saclay (France). Centre d' Etudes Nucleaires; Baudin, G [Commissariat a l' Energie Atomique, Grenoble (France). Centre d' Etudes Nucleaires

    1961-07-01

    We describe here a method for the spectrographic determination of beryllium on filters which is valid for amounts varying between 0,01 and 30 {mu}g of beryllium and which is independent of the nature of the beryllium compound involved. This is a flux method (graphite-lithium carbonate mixture), the excitation being by a direct current arc. (author) [French] Nous decrivons ici, une methode de dosage spectrographique de beryllium sur filtre, valable pour des teneurs comprises entre 0,01 et 30 {mu}g de beryllium et independante de la nature du compose de beryllium a doser. C'est une methode de 'flux' (melange graphite-carbonate de lithium) l'excitation etant un arc a courant continu. (auteur)

  18. Molecules at the interface of Cryptococcus and the host that determine disease susceptibility.

    Science.gov (United States)

    Wozniak, Karen L; Olszewski, Michal A; Wormley, Floyd L

    2015-05-01

    Cryptococcus neoformans and Cryptococcus gattii, the predominant etiological agents of cryptococcosis, are fungal pathogens that cause disease ranging from a mild pneumonia to life-threatening infections of the central nervous system (CNS). Resolution or exacerbation of Cryptococcus infection is determined following complex interactions of several host and pathogen derived factors. Alternatively, interactions between the host and pathogen may end in an impasse resulting in the establishment of a sub-clinical Cryptococcus infection. The current review addresses the delicate interaction between the host and Cryptococcus-derived molecules that determine resistance or susceptibility to infection. An emphasis will be placed on data highlighted at the recent 9th International Conference on Cryptococcus and Cryptococcosis (ICCC). Copyright © 2015. Published by Elsevier Inc.

  19. Mud crab susceptibility to disease from white spot syndrome virus is species-dependent

    Directory of Open Access Journals (Sweden)

    Sritunyalucksana Kallaya

    2010-11-01

    Full Text Available Abstract Background Based on a report for one species (Scylla serrata, it is widely believed that mud crabs are relatively resistant to disease caused by white spot syndrome virus (WSSV. We tested this hypothesis by determining the degree of susceptibility in two species of mud crabs, Scylla olivacea and Scylla paramamosain, both of which were identified by mitochondrial 16 S ribosomal gene analysis. We compared single-dose and serial-dose WSSV challenges on S. olivacea and S. paramamosain. Findings In a preliminary test using S. olivacea alone, a dose of 1 × 106 WSSV copies/g gave 100% mortality within 7 days. In a subsequent test, 17 S. olivacea and 13 S. paramamosain were divided into test and control groups for challenge with WSSV at 5 incremental, biweekly doses starting from 1 × 104 and ending at 5 × 106 copies/g. For 11 S. olivacea challenged, 3 specimens died at doses between 1 × 105 and 5 × 105 copies/g and none died for 2 weeks after the subsequent dose (1 × 106 copies/g that was lethal within 7 days in the preliminary test. However, after the final challenge on day 56 (5 × 106 copies/g, the remaining 7 of 11 S. olivacea (63.64% died within 2 weeks. There was no mortality in the buffer-injected control crabs. For 9 S. paramamosain challenged in the same way, 5 (55.56% died after challenge doses between 1 × 104 and 5 × 105 copies/g, and none died for 2 weeks after the challenge dose of 1 × 106 copies/g. After the final challenge (5 × 106 copies/g on day 56, no S. paramamosain died during 2 weeks after the challenge, and 2 of 9 WSSV-infected S. paramamosain (22.22% remained alive together with the control crabs until the end of the test on day 106. Viral loads in these survivors were low when compared to those in the moribund crabs. Conclusions S. olivacea and S. paramamosain show wide variation in response to challenge with WSSV. S. olivacea and S. paramamosain are susceptible to white spot disease, and S. olivacea is more

  20. Differences in the susceptibility of dromedary and Bactrian camels to foot-and-mouth disease virus

    DEFF Research Database (Denmark)

    Larska, M.; Wernery, U.; Kinne, J.

    2009-01-01

    In this study, two sheep, eight dromedary camels and two Bactrian camels were inoculated with foot-and-mouth disease virus (FMDV) type A SAU 22/92. Five naive dromedary camels and four sheep were kept in direct or indirect contact with the inoculated camels. The inoculated sheep, which served...... as positive controls, displayed typical moderate clinical signs of FMD and developed viraemia and high antibody titres. The presence of the virus was also detected in probang and mouth-swab samples for several days after inoculation. In contrast, the inoculated dromedary camels were not susceptible to FMDV...... type A infection. None of them showed clinical signs of FMD or developed viraemia or specific anti-FMDV antibodies despite the high dose of virus inoculated. All the contact sheep and contact dromedaries that were kept together with the inoculated camels remained virus-negative and did not seroconvert...

  1. Metallurgical viewpoints on the brittleness of beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Lagerberg, G

    1960-02-15

    At present the development and use of beryllium metal for structural applications is severely hampered by its brittleness. Reasons for this lack of ductility are reviewed in discussing the deformation behaviour of beryllium in relation to other hexagonal metals. The ease of fracturing in beryllium is assumed to be a consequence of a limited number of deformation modes in combination with high deformation resistance. Models for the nucleation of fracture are suggested. The relation of ductility to elastic constants as well as to grain size, texture and alloying additions is discussed.

  2. THE IDAHO NATIONAL LABORATORY BERYLLIUM TECHNOLOGY UPDATE

    International Nuclear Information System (INIS)

    Glen R. Longhurst

    2007-01-01

    A Beryllium Technology Update meeting was held at the Idaho National Laboratory on July 18, 2007. Participants came from the U.S., Japan, and Russia. There were two main objectives of this meeting. One was a discussion of current technologies for beryllium in fission reactors, particularly the Advanced Test Reactor and the Japan Materials Test Reactor, and prospects for material availability in the coming years. The second objective of the meeting was a discussion of a project of the International Science and Technology Center regarding treatment of irradiated beryllium for disposal. This paper highlights discussions held during that meeting and major conclusions reached

  3. Metallurgical viewpoints on the brittleness of beryllium

    International Nuclear Information System (INIS)

    Lagerberg, G.

    1960-02-01

    At present the development and use of beryllium metal for structural applications is severely hampered by its brittleness. Reasons for this lack of ductility are reviewed in discussing the deformation behaviour of beryllium in relation to other hexagonal metals. The ease of fracturing in beryllium is assumed to be a consequence of a limited number of deformation modes in combination with high deformation resistance. Models for the nucleation of fracture are suggested. The relation of ductility to elastic constants as well as to grain size, texture and alloying additions is discussed

  4. Identification of Two Additional Susceptibility Loci for Inflammatory Bowel Disease in a Chinese Population

    Directory of Open Access Journals (Sweden)

    Xiucai Lan

    2017-04-01

    Full Text Available Background/Aims: To investigate the associations between the rs1250569 (zinc finger MIZ-type containing 1, ZMIZ1, rs1042522 (tumour protein p53, TP53, and rs10114470 (tumour necrosis factor-like cytokine 1A, TL1A polymorphisms and the development of inflammatory bowel disease (IBD in a Chinese (Han population. We analysed the expression of genes that predispose patients to Crohn’s disease (CD and ulcerative colitis (UC. Methods: A total of 381 IBD patients and 517 healthy controls were recruited into our study. Polymorphisms at the three loci were genotyped using polymerase chain reaction-ligation detection reactions (PCR-LDR. Genotype-phenotype correlations were analysed. Blood and gut samples were obtained and analysed using quantitative real-time PCR (qRT-PCR, western blot analysis, and immunohistochemistry to investigate the mRNA and protein levels and in situ expression of genes found to predispose patients to IBD. Furthermore, the expression of susceptible genes was further verified using a mouse dextran sulphate sodium (DSS-induced acute colitis model. Results: No significant association was detected between rs1250569 and rs1042522 genotypes and CD or UC susceptibility. However, the frequency of allele A of rs1250569 was much higher in CD patients than that in healthy controls (55.03% vs. 48.48%, respectively; p = 0.044. The mutation rates at rs10114470 were dramatically lower at both the genotype and allele level in patients than those in healthy controls (p = 0.002 at both the genotype and allele level. Additionally, increased ZMIZ1 and TL1A levels were detected in intestinal samples obtained from both IBD patients and DSS-treated mice. Conclusion: rs1250569 (ZMIZ1 and rs10114470 (TL1A are two novel loci that indicate susceptibility to IBD in Han-Chinese patients. Consistent with previous studies, TL1A expression levels were higher in Chinese Han IBD patients and DSS-treated mice. Most importantly, we found that ZMIZ1 expression was

  5. Effect of Aging on Periodontal Inflammation, Microbial Colonization, and Disease Susceptibility.

    Science.gov (United States)

    Wu, Y; Dong, G; Xiao, W; Xiao, E; Miao, F; Syverson, A; Missaghian, N; Vafa, R; Cabrera-Ortega, A A; Rossa, C; Graves, D T

    2016-04-01

    Periodontitis is a chronic inflammatory disease induced by a biofilm that forms on the tooth surface. Increased periodontal disease is associated with aging. We investigated the effect of aging on challenge by oral pathogens, examining the host response, colonization, and osteoclast numbers in aged versus young mice. We also compared the results with mice with lineage-specific deletion of the transcription factor FOXO1, which reduces dendritic cell (DC) function. Periodontitis was induced by oral inoculation of Porphyromonas gingivalis and Fusobacterium nucleatum in young (4 to 5 mo) and aged (14 to 15 mo) mice. Aged mice as well as mice with reduced DC function had decreased numbers of DCs in lymph nodes, indicative of a diminished host response. In vitro studies suggest that reduced DC numbers in lymph nodes of aged mice may involve the effect of advanced glycation end products on DC migration. Surprisingly, aged mice but not mice with genetically altered DC function had greater production of antibody to P. gingivalis, greater IL-12 expression, and more plasma cells in lymph nodes following oral inoculation as compared with young mice. The greater adaptive immune response in aged versus young mice was linked to enhanced levels of P. gingivalis and reduced bacterial diversity. Thus, reduced bacterial diversity in aged mice may contribute to increased P. gingivalis colonization following inoculation and increased periodontal disease susceptibility, reflected by higher TNF levels and osteoclast numbers in the periodontium of aged versus young mice. © International & American Associations for Dental Research 2016.

  6. The impact of Fusarium mycotoxins on human and animal host susceptibility to infectious diseases.

    Science.gov (United States)

    Antonissen, Gunther; Martel, An; Pasmans, Frank; Ducatelle, Richard; Verbrugghe, Elin; Vandenbroucke, Virginie; Li, Shaoji; Haesebrouck, Freddy; Van Immerseel, Filip; Croubels, Siska

    2014-01-28

    Contamination of food and feed with mycotoxins is a worldwide problem. At present, acute mycotoxicosis caused by high doses is rare in humans and animals. Ingestion of low to moderate amounts of Fusarium mycotoxins is common and generally does not result in obvious intoxication. However, these low amounts may impair intestinal health, immune function and/or pathogen fitness, resulting in altered host pathogen interactions and thus a different outcome of infection. This review summarizes the current state of knowledge about the impact of Fusarium mycotoxin exposure on human and animal host susceptibility to infectious diseases. On the one hand, exposure to deoxynivalenol and other Fusarium mycotoxins generally exacerbates infections with parasites, bacteria and viruses across a wide range of animal host species. Well-known examples include coccidiosis in poultry, salmonellosis in pigs and mice, colibacillosis in pigs, necrotic enteritis in poultry, enteric septicemia of catfish, swine respiratory disease, aspergillosis in poultry and rabbits, reovirus infection in mice and Porcine Reproductive and Respiratory Syndrome Virus infection in pigs. However, on the other hand, T-2 toxin has been shown to markedly decrease the colonization capacity of Salmonella in the pig intestine. Although the impact of the exposure of humans to Fusarium toxins on infectious diseases is less well known, extrapolation from animal models suggests possible exacerbation of, for instance, colibacillosis and salmonellosis in humans, as well.

  7. Corals hosting symbiotic hydrozoans are less susceptible to predation and disease

    KAUST Repository

    Montano, Simone

    2017-12-20

    In spite of growing evidence that climate change may dramatically affect networks of interacting species, whether-and to what extent-ecological interactions can mediate species\\' responses to disturbances is an open question. Here we show how a largely overseen association such as that between hydrozoans and scleractinian corals could be possibly associated with a reduction in coral susceptibility to ever-increasing predator and disease outbreaks. We examined 2455 scleractinian colonies (from both Maldivian and the Saudi Arabian coral reefs) searching for non-random patterns in the occurrence of hydrozoans on corals showing signs of different health conditions (i.e. bleaching, algal overgrowth, corallivory and different coral diseases). We show that, after accounting for geographical, ecological and co-evolutionary factors, signs of disease and corallivory are significantly lower in coral colonies hosting hydrozoans than in hydrozoan-free ones. This finding has important implications for our understanding of the ecology of coral reefs, and for their conservation in the current scenario of global change, because it suggests that symbiotic hydrozoans may play an active role in protecting their scleractinian hosts from stresses induced by warming water temperatures.

  8. Trade-offs in disease and bleaching susceptibility among two color morphs of the Hawaiian reef coral, Montipora capitata

    Science.gov (United States)

    Shore-Maggio, Amanda; Callahan, Sean M.; Aeby, Greta S.

    2018-06-01

    Two threats impacting coral reefs are bleaching and disease, and differential susceptibility to both exists among and within coral taxa. Bleaching resistance is commonly linked to the clade of endosymbiotic Symbiodinium, but may come at a cost to other biological traits. Montipora capitata is an Indo-Pacific reef-building coral with two color morphs, red and orange, which harbor different clades of Symbiodinium. We explored whether these color morphs displayed differences in bleaching/disease susceptibility and other biological traits (growth rate, reproductive output, and lipid content). We found a trade-off between disease and bleaching susceptibility. The orange morph had significantly higher disease prevalence, whereas the red morph had significantly higher bleaching prevalence. Thermal stress experiments found that bleaching and loss of photochemical efficiency occurred significantly faster in the red morph, but at normal temperatures, the red morph had a significantly higher growth rate. Higher abundance of the red morph in the field suggests that disease resistance is a more successful strategy in the absence of thermal stress events. The orange morph may better tolerate increases in sea temperatures, but may not persist due to decreased growth rate and increased disease susceptibility. Trade-offs in response to stressors highlight the need to consider local and global threats to coral reefs.

  9. Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease

    Directory of Open Access Journals (Sweden)

    Kullo Iftikhar J

    2011-04-01

    Full Text Available Abstract Background We hypothesized that the frequencies of risk alleles of SNPs mediating susceptibility to cardiovascular diseases differ among populations of varying geographic origin and that population-specific selection has operated on some of these variants. Methods From the database of genome-wide association studies (GWAS, we selected 36 cardiovascular phenotypes including coronary heart disease, hypertension, and stroke, as well as related quantitative traits (eg, body mass index and plasma lipid levels. We identified 292 SNPs in 270 genes associated with a disease or trait at P -8. As part of the Human Genome-Diversity Project (HGDP, 158 (54.1% of these SNPs have been genotyped in 938 individuals belonging to 52 populations from seven geographic areas. A measure of population differentiation, FST, was calculated to quantify differences in risk allele frequencies (RAFs among populations and geographic areas. Results Large differences in RAFs were noted in populations of Africa, East Asia, America and Oceania, when compared with other geographic regions. The mean global FST (0.1042 for 158 SNPs among the populations was not significantly higher than the mean global FST of 158 autosomal SNPs randomly sampled from the HGDP database. Significantly higher global FST (P FST of 2036 putatively neutral SNPs. For four of these SNPs, additional evidence of selection was noted based on the integrated Haplotype Score. Conclusion Large differences in RAFs for a set of common SNPs that influence risk of cardiovascular disease were noted between the major world populations. Pairwise comparisons revealed RAF differences for at least eight SNPs that might be due to population-specific selection or demographic factors. These findings are relevant to a better understanding of geographic variation in the prevalence of cardiovascular disease.

  10. Is nutrient intake a gender-specific cause for enhanced susceptibility to alcohol-induced liver disease in women?

    DEFF Research Database (Denmark)

    Wagnerberger, S.; Schafer, C.; Schwarz, E.

    2008-01-01

    Aim: Women have a higher susceptibility to alcohol-induced liver disease (ALD) than men. Gender-related differences in food preference were described in previous studies for several populations, but not in alcohol abusers. As certain micronutrients are reported to take influence on the development...... of ALD in animal experiments, the hypothesis of the present retrospective cross-sectional study was that gender-dependent (micro-) nutrient intake in patients with ALD may cause the higher susceptibility of women to this disease. Methods: In 210 patients (male: 158, female: 52) with different stages...

  11. Combined aging of beryllium bronze

    International Nuclear Information System (INIS)

    Duraev, P.P.; Kaplun, Yu.A.; Pastukhova, Zh.P.; Rakhshtadt, A.G.

    1986-01-01

    This article evaluates the possibility of increasing the resistance of beryllium bronze to small plastic deformations as a result of the application of stepped aging under stress. Low-temperature aging under conditions of bending under a stress of about 100 MPa was applied to alloy BrBNT1, 9Mg at 150, 180, and 210 0 C, high-temperature aging at 300 and 340 0 C under stress and without stress. As a result of applying stepped aging under stress, the elastic limit of the alloy BrBNT1, 9Mg was raised to 900 MPa. Stepped aging under stress has a substantial effect on the relaxation stability of the alloy. The procedure suggested in the article for aging may be used efficiently for treating elastic elements made of other brands of bronze as well

  12. Monitoring beryllium during site cleanup and closure using a real-time analyzer

    Energy Technology Data Exchange (ETDEWEB)

    Schlager, R.J.; Sappey, A.D.; French, P.D. [ADA Technologies, Inc., Englewood, CO (United States)

    1998-12-31

    Beryllium metal has a number of unique properties that have been exploited for use in commercial and government applications. Airborne beryllium particles can represent a significant human health hazard if deposited in the lungs. These particles can cause immunologically-mediated chronic granulomatous lung disease (chronic beryllium disease). Traditional methods of monitoring airborne beryllium involve collecting samples of air within the work area using a filter. The filter then undergoes chemical analysis to determine the amount of beryllium collected during the sampling period. These methods are time-consuming and results are known only after a potential exposure has occurred. The need for monitoring exposures in real time has prompted government and commercial companies to develop instrumentation that will allow for the real time assessment of short-term exposures so that adequate protection for workers in contaminated environments can be provided. Such an analyzer provides a tool that will allow government and commercial sites to be cleaned up in a more safe and effective manner since exposure assessments can be made instantaneously. This paper describes the development and initial testing of an analyzer for monitoring airborne beryllium using a technique known as Laser-Induced Breakdown Spectroscopy (LIBS). Energy from a focused, pulsed laser is used to vaporize a sample and create an intense plasma. The light emitted from the plasma is analyzed to determine the quantity of beryllium in the sampled air. A commercial prototype analyzer has been fabricated and tested in a program conducted by Lawrence Livermore National Laboratory, Los Alamos National Laboratory, Lovelace Respiratory Research Institute, and ADA Technologies, Inc. Design features of the analyzer and preliminary test results are presented.

  13. Loss of function in Mlo orthologs reduces susceptibility of pepper and tomato to powdery mildew disease caused by Leveillula taurica.

    Directory of Open Access Journals (Sweden)

    Zheng Zheng

    Full Text Available Powdery mildew disease caused by Leveillula taurica is a serious fungal threat to greenhouse tomato and pepper production. In contrast to most powdery mildew species which are epiphytic, L. taurica is an endophytic fungus colonizing the mesophyll tissues of the leaf. In barley, Arabidopsis, tomato and pea, the correct functioning of specific homologues of the plant Mlo gene family has been found to be required for pathogenesis of epiphytic powdery mildew fungi. The aim of this study was to investigate the involvement of the Mlo genes in susceptibility to the endophytic fungus L. taurica. In tomato (Solanum lycopersicum, a loss-of-function mutation in the SlMlo1 gene results in resistance to powdery mildew disease caused by Oidium neolycopersici. When the tomato Slmlo1 mutant was inoculated with L. taurica in this study, it proved to be less susceptible compared to the control, S. lycopersicum cv. Moneymaker. Further, overexpression of SlMlo1 in the tomato Slmlo1 mutant enhanced susceptibility to L. taurica. In pepper, the CaMlo2 gene was isolated by applying a homology-based cloning approach. Compared to the previously identified CaMlo1 gene, the CaMlo2 gene is more similar to SlMlo1 as shown by phylogenetic analysis, and the expression of CaMlo2 is up-regulated at an earlier time point upon L. taurica infection. However, results of virus-induced gene silencing suggest that both CaMlo1 and CaMlo2 may be involved in the susceptibility of pepper to L. taurica. The fact that overexpression of CaMlo2 restored the susceptibility of the tomato Slmlo1 mutant to O. neolycopersici and increased its susceptibility to L. taurica confirmed the role of CaMlo2 acting as a susceptibility factor to different powdery mildews, though the role of CaMlo1 as a co-factor for susceptibility cannot be excluded.

  14. The adhesive bonding of beryllium structural components

    International Nuclear Information System (INIS)

    Fullerton-Batten, R.C.

    1977-01-01

    Where service conditions permit, adhesive bonding is a highly recommendable, reliable means of joining beryllium structural parts. Several important programs have successfully used adhesive bonding for joining structural and non-structural beryllium components. Adhesive bonding minimizes stress concentrations associated with other joining techniques and considerably improves fatigue resistance. In addition, no degradation of base metal properties occur. In many instances, structural joints can be fabricated more cheaply by adhesive bonding or in combination with adhesive bonding than by any other method used alone. An evaluation program on structural adhesive bonding of beryllium sheet components is described. A suitable surface pretreatment for beryllium adherends prior to bonding is given. Tensile shear strength and fatigue properties of FM 1000 and FM 123-5 adhesive bonded joints are reviewed and compared with data obtained from riveted joints of similar geometry. (author)

  15. Beryllium-aluminum alloys for investment castings

    International Nuclear Information System (INIS)

    Nachtrab, W.T.; Levoy, N.

    1997-01-01

    Beryllium-aluminum alloys containing greater than 60 wt % beryllium are very favorable materials for applications requiring light weight and high stiffness. However, when produced by traditional powder metallurgical methods, these alloys are expensive and have limited applications. To reduce the cost of making beryllium-aluminum components, Nuclear Metals Inc. (NMI) and Lockheed Martin Electronics and Missiles have recently developed a family of patented beryllium-aluminum alloys that can be investment cast. Designated Beralcast, the alloys can achieve substantial weight savings because of their high specific strength and stiffness. In some cases, weight has been reduced by up to 50% over aluminum investment casting. Beralcast is now being used to make thin wall precision investment castings for several advanced aerospace applications, such as the RAH-66 Comanche helicopter and F-22 jet fighter. This article discusses alloy compositions, properties, casting method, and the effects of cobalt additions on strength

  16. Experiments on tritium behavior in beryllium, (2)

    International Nuclear Information System (INIS)

    Ishitsuka, Etsuo; Kawamura, Hiroshi; Nakata, Hirokatsu; Sugai, Hiroyuki; Tanase, Masakazu.

    1990-02-01

    Beryllium has been used as the neutron reflector of material testing reactor and as the neutron multiplier for the fusion reactor lately. To study the tritium behavior in beryllium, we conducted the experiments, i.e., tritium release by recoil or diffusion by using the hot-pressed beryllium which had been produced both tritium and helium by neutron irradiation. From our experiments, we found that (1) amount of tritium production per one cycle irradiation (lasting 22 days) of JMTR is 10 mCi/g, (2) amount of tritium per surface area of hot-pressed beryllium released by recoil is 4 μCi/cm 2 , (3) diffusion coefficient of tritium in a temperature range of 800 ∼1180degC can be expressed with the following equation; D = 8.7 x 10 4 exp(-2.9x10 5 /R/T) cm 2 /s. (author)

  17. CD40: Novel Association with Crohn's Disease and Replication in Multiple Sclerosis Susceptibility

    Science.gov (United States)

    Alcina, Antonio; Teruel, María; Díaz-Gallo, Lina M.; Gómez-García, María; López-Nevot, Miguel A.; Rodrigo, Luis; Nieto, Antonio; Cardeña, Carlos; Alcain, Guillermo; Díaz-Rubio, Manuel; de la Concha, Emilio G.; Fernandez, Oscar; Arroyo, Rafael

    2010-01-01

    Background A functional polymorphism located at −1 from the start codon of the CD40 gene, rs1883832, was previously reported to disrupt a Kozak sequence essential for translation. It has been consistently associated with Graves' disease risk in populations of different ethnicity and genetic proxies of this variant evaluated in genome-wide association studies have shown evidence of an effect in rheumatoid arthritis and multiple sclerosis (MS) susceptibility. However, the protective allele associated with Graves' disease or rheumatoid arthritis has shown a risk role in MS, an effect that we aimed to replicate in the present work. We hypothesized that this functional polymorphism might also show an association with other complex autoimmune condition such as inflammatory bowel disease, given the CD40 overexpression previously observed in Crohn's disease (CD) lesions. Methodology Genotyping of rs1883832C>T was performed in 1564 MS, 1102 CD and 969 ulcerative colitis (UC) Spanish patients and in 2948 ethnically matched controls by TaqMan chemistry. Principal Findings The observed effect of the minor allele rs1883832T was replicated in our independent Spanish MS cohort [p = 0.025; OR (95% CI) = 1.12 (1.01–1.23)]. The frequency of the minor allele was also significantly higher in CD patients than in controls [p = 0.002; OR (95% CI) = 1.19 (1.06–1.33)]. This increased predisposition was not detected in UC patients [p = 0.5; OR (95% CI) = 1.04 (0.93–1.17)]. Conclusion The impact of CD40 rs1883832 on MS and CD risk points to a common signaling shared by these autoimmune conditions. PMID:20634952

  18. Disease susceptibility of the human macula: differential gene transcription in the retinal pigmented epithelium/choroid.

    Science.gov (United States)

    Radeke, Monte J; Peterson, Katie E; Johnson, Lincoln V; Anderson, Don H

    2007-09-01

    The discoveries of gene variants associated with macular diseases have provided valuable insight into their molecular mechanisms, but they have not clarified why the macula is particularly vulnerable to degenerative disease. Its predisposition may be attributable to specialized structural features and/or functional properties of the underlying macular RPE/choroid. To examine the molecular basis for the macula's disease susceptibility, we compared the gene expression profile of the human RPE/choroid in the macula with the profile in the extramacular region using DNA microarrays. Seventy-five candidate genes with differences in macular:extramacular expression levels were identified by microarray analysis, of which 29 were selected for further analysis. Quantitative PCR confirmed that 21 showed statistically significant differences in expression. Five genes were expressed at higher levels in the macula. Two showed significant changes in the macular:extramacular expression ratio; another two exhibited changes in absolute expression level, as a function of age or AMD. Several of the differentially expressed genes have potential relevance to AMD pathobiology. One is an RPE cell growth factor (TFPI2), five are extracellular matrix components (DCN, MYOC, OGN, SMOC2, TFPI2), and six are related to inflammation (CCL19, CCL26, CXCL14, SLIT2) and/or angiogenesis (CXCL14, SLIT2, TFPI2, WFDC1). The identification of regional differences in gene expression in the RPE/choroid is a first step in clarifying the macula's propensity for degeneration. These findings lay the groundwork for further studies into the roles of the corresponding gene products in the normal, aged, and diseased macula.

  19. Estimating the total number of susceptibility variants underlying complex diseases from genome-wide association studies.

    Directory of Open Access Journals (Sweden)

    Hon-Cheong So

    2010-11-01

    Full Text Available Recently genome-wide association studies (GWAS have identified numerous susceptibility variants for complex diseases. In this study we proposed several approaches to estimate the total number of variants underlying these diseases. We assume that the variance explained by genetic markers (Vg follow an exponential distribution, which is justified by previous studies on theories of adaptation. Our aim is to fit the observed distribution of Vg from GWAS to its theoretical distribution. The number of variants is obtained by the heritability divided by the estimated mean of the exponential distribution. In practice, due to limited sample sizes, there is insufficient power to detect variants with small effects. Therefore the power was taken into account in fitting. Besides considering the most significant variants, we also tried to relax the significance threshold, allowing more markers to be fitted. The effects of false positive variants were removed by considering the local false discovery rates. In addition, we developed an alternative approach by directly fitting the z-statistics from GWAS to its theoretical distribution. In all cases, the "winner's curse" effect was corrected analytically. Confidence intervals were also derived. Simulations were performed to compare and verify the performance of different estimators (which incorporates various means of winner's curse correction and the coverage of the proposed analytic confidence intervals. Our methodology only requires summary statistics and is able to handle both binary and continuous traits. Finally we applied the methods to a few real disease examples (lipid traits, type 2 diabetes and Crohn's disease and estimated that hundreds to nearly a thousand variants underlie these traits.

  20. Genetic Predictions of Prion Disease Susceptibility in Carnivore Species Based on Variability of the Prion Gene Coding Region

    Science.gov (United States)

    Stewart, Paula; Campbell, Lauren; Skogtvedt, Susan; Griffin, Karen A.; Arnemo, Jon M.; Tryland, Morten; Girling, Simon; Miller, Michael W.; Tranulis, Michael A.; Goldmann, Wilfred

    2012-01-01

    Mammalian species vary widely in their apparent susceptibility to prion diseases. For example, several felid species developed prion disease (feline spongiform encephalopathy or FSE) during the bovine spongiform encephalopathy (BSE) epidemic in the United Kingdom, whereas no canine BSE cases were detected. Whether either of these or other groups of carnivore species can contract other prion diseases (e.g. chronic wasting disease or CWD) remains an open question. Variation in the host-encoded prion protein (PrPC) largely explains observed disease susceptibility patterns within ruminant species, and may explain interspecies differences in susceptibility as well. We sequenced and compared the open reading frame of the PRNP gene encoding PrPC protein from 609 animal samples comprising 29 species from 22 genera of the Order Carnivora; amongst these samples were 15 FSE cases. Our analysis revealed that FSE cases did not encode an identifiable disease-associated PrP polymorphism. However, all canid PrPs contained aspartic acid or glutamic acid at codon 163 which we propose provides a genetic basis for observed susceptibility differences between canids and felids. Among other carnivores studied, wolverine (Gulo gulo) and pine marten (Martes martes) were the only non-canid species to also express PrP-Asp163, which may impact on their prion diseases susceptibility. Populations of black bear (Ursus americanus) and mountain lion (Puma concolor) from Colorado showed little genetic variation in the PrP protein and no variants likely to be highly resistant to prions in general, suggesting that strain differences between BSE and CWD prions also may contribute to the limited apparent host range of the latter. PMID:23236380

  1. Genetic predictions of prion disease susceptibility in carnivore species based on variability of the prion gene coding region.

    Directory of Open Access Journals (Sweden)

    Paula Stewart

    Full Text Available Mammalian species vary widely in their apparent susceptibility to prion diseases. For example, several felid species developed prion disease (feline spongiform encephalopathy or FSE during the bovine spongiform encephalopathy (BSE epidemic in the United Kingdom, whereas no canine BSE cases were detected. Whether either of these or other groups of carnivore species can contract other prion diseases (e.g. chronic wasting disease or CWD remains an open question. Variation in the host-encoded prion protein (PrP(C largely explains observed disease susceptibility patterns within ruminant species, and may explain interspecies differences in susceptibility as well. We sequenced and compared the open reading frame of the PRNP gene encoding PrP(C protein from 609 animal samples comprising 29 species from 22 genera of the Order Carnivora; amongst these samples were 15 FSE cases. Our analysis revealed that FSE cases did not encode an identifiable disease-associated PrP polymorphism. However, all canid PrPs contained aspartic acid or glutamic acid at codon 163 which we propose provides a genetic basis for observed susceptibility differences between canids and felids. Among other carnivores studied, wolverine (Gulo gulo and pine marten (Martes martes were the only non-canid species to also express PrP-Asp163, which may impact on their prion diseases susceptibility. Populations of black bear (Ursus americanus and mountain lion (Puma concolor from Colorado showed little genetic variation in the PrP protein and no variants likely to be highly resistant to prions in general, suggesting that strain differences between BSE and CWD prions also may contribute to the limited apparent host range of the latter.

  2. Beryllium concentration in pharyngeal tonsils in children

    Directory of Open Access Journals (Sweden)

    Ewa Nogaj

    2014-06-01

    Full Text Available Power plant dust is believed to be the main source of the increased presence of the element beryllium in the environment which has been detected in the atmospheric air, surface waters, groundwater, soil, food, and cigarette smoke. In humans, beryllium absorption occurs mainly via the respiratory system. The pharyngeal tonsils are located on the roof of the nasopharynx and are in direct contact with dust particles in inhaled air. As a result, the concentration levels of beryllium in the pharyngeal tonsils are likely to be a good indicator of concentration levels in the air. The presented study had two primary aims: to investigate the beryllium concentration in pharyngeal tonsils in children living in southern Poland, and the appropriate reference range for this element in children’s pharyngeal tonsils. Pharyngeal tonsils were extracted from a total of 379 children (age 2–17 years, mean 6.2 ± 2.7 years living in southern Poland. Tonsil samples were mineralized in a closed cycle in a pressure mineralizer PDS 6, using 65% spectrally pure nitric acid. Beryllium concentration was determined using the ICP-AES method with a Perkin Elmer Optima 5300DVTM. The software Statistica v. 9 was used for the statistical analysis. It was found that girls had a significantly greater beryllium concentration in their pharyngeal tonsils than boys. Beryllium concentration varies greatly, mostly according to the place of residence. Based on the study results, the reference value for beryllium in pharyngeal tonsils of children is recommended to be determined at 0.02–0.04 µg/g.

  3. Effect of transient heating loads on beryllium

    International Nuclear Information System (INIS)

    Kupriyanov, Igor B.; Porezanov, Nicolay P.; Nikolaev, Georgyi N.; Kurbatova, Liudmila A.; Podkovyrov, Vyacheslav L.; Muzichenko, Anatoliy D.; Zhitlukhin, Anatoliy M.; Khimchenko, Leonid N.; Gervash, Alexander A.

    2014-01-01

    Highlights: • We study the effect of transient plasma loads on beryllium erosion and surface microstructure. • Beryllium targets were irradiated by plasma streams with energy of 0.5–1 MJ/m 2 at ∼250 °C. • Under plasma loads 0.5–1 MJ/m 2 cracking of beryllium surface is rather slight. • Under 0.5 MJ/m 2 the mass loss of Be is no more than 0.2 g/m 2 shot and decreasing with shots number. • Under 1 MJ/m 2 maximum mass loss of beryllium was 3.7 g/m 2 shot and decreasing with shots number. - Abstract: Beryllium will be used as a plasma facing material for ITER first wall. It is expected that erosion of beryllium under transient plasma loads such as the edge-localized modes (ELMs) and disruptions will mainly determine a lifetime of ITER first wall. The results of recent experiments with the Russian beryllium of TGP-56FW ITER grade on QSPA-Be plasma gun facility are presented. The Be/CuCrZr mock-ups were exposed to upto 100 shots by deuterium plasma streams with pulse duration of 0.5 ms at ∼250 °C and average heat loads of 0.5 and 1 MJ/m 2 . Experiments were performed at 250 °C. The evolution of surface microstructure and cracks morphology as well as beryllium mass loss are investigated under erosion process

  4. Feasibility of the salivary transcriptome as a novel biomarker in determining disease susceptibility.

    Science.gov (United States)

    Hidayat, M F H; Milne, T; Cullinan, M P; Seymour, G J

    2018-06-01

    The salivary transcriptome may present as a readily available and non-invasive source of potential biomarkers. The development of chronic periodontitis is determined by individual patient susceptibility; hence, the aim of this study was to determine the potential of the salivary transcriptome as a biomarker of disease susceptibility using chronic periodontitis as an example. Using an Oragene ® RNA kit, the total RNA was purified from the saliva of 10 patients with chronic periodontitis and 10 patients without chronic periodontitis. The quantity and quality of the total RNA was determined, and a measure of gene expression via cDNA was undertaken using the Affymetrix microarray system. The microarray profiling result was further validated by real-time quantitative polymerase chain reaction. Spectrophotometric analysis showed the total RNA purified from each participant ranged from 0.92 μg/500 μL to 62.85 μg/500 μL. There was great variability in the quantity of total RNA obtained from the 2 groups in the study with a mean of 10.21 ± 12.71 μg/500 μL for the periodontitis group and 15.97 ± 23.47 μg/500 μL for the control group. Further the RNA purity (based on the A 260 /A 280 ratio) for the majority of participants (9 periodontitis and 6 controls) were within the acceptable limits for downstream analysis (2.0 ± 0.1). The study samples, showed 2 distinct bands at 23S (3800 bp) and 16S (1500 bp) characteristic of bacterial rRNA. Preliminary microarray analysis was performed for 4 samples (P2, P6, H5 and H9). The percentage of genes present in each of the 4 samples was not consistent with about 1.8%-18.7% of genes being detected. Quantitative real-time polymerase chain reaction confirmed that the total RNA purified from each sample was mainly bacterial RNA (Uni 16S) with minimal human mRNA. This study showed that minimal amounts of human RNA were able to be isolated from the saliva of patients with periodontitis as well as controls. Further

  5. Differential susceptibility according to gender in the association between air pollution and mortality from respiratory diseases.

    Science.gov (United States)

    Oliveira, Marcio Sacramento de; Leon, Antônio Ponce de; Mattos, Inês Echenique; Koifman, Sérgio

    2011-09-01

    This study analyzed the association between air pollution and deaths from respiratory diseases, considering differential susceptibility according to gender. The authors used daily deaths from respiratory diseases (ICD-10, J00-J99), PM(10), SO(2), and O(3) levels, and meteorological indicators in Volta Redonda, Rio de Janeiro State, Brazil, from January 2002 to December 2006. The association was estimated by Poisson regression using generalized additive models, where the increase in risk of deaths from PM(10) to lag 1 was 10.01% (95%CI: 1.81-18.88%) in the total female population and 10.04% (95%CI: 0.90-20.02%) in elderly women. The increase in risk of deaths from PM(10) to lag 9 was 8.25% in the total male population (95%CI: 0.86-16.18%) and 10.80% (95%CI: 2.18-20.15%) in elderly men. For exposure to SO(2) and O(3), the risk was significant in the total male population and the elderly, respectively. The results emphasize the need for further studies, focusing on modification of the effects of air pollution on health.

  6. Differential susceptibility according to gender in the association between air pollution and mortality from respiratory diseases

    Directory of Open Access Journals (Sweden)

    Marcio Sacramento de Oliveira

    2011-09-01

    Full Text Available This study analyzed the association between air pollution and deaths from respiratory diseases, considering differential susceptibility according to gender. The authors used daily deaths from respiratory diseases (ICD-10, J00-J99, PM10, SO2, and O3 levels, and meteorological indicators in Volta Redonda, Rio de Janeiro State, Brazil, from January 2002 to December 2006. The association was estimated by Poisson regression using generalized additive models, where the increase in risk of deaths from PM10 to lag 1 was 10.01% (95%CI: 1.81-18.88% in the total female population and 10.04% (95%CI: 0.90-20.02% in elderly women. The increase in risk of deaths from PM10 to lag 9 was 8.25% in the total male population (95%CI: 0.86-16.18% and 10.80% (95%CI: 2.18-20.15% in elderly men. For exposure to SO2 and O3, the risk was significant in the total male population and the elderly, respectively. The results emphasize the need for further studies, focusing on modification of the effects of air pollution on health.

  7. Associations between CD36 gene polymorphisms and susceptibility to coronary artery heart disease

    International Nuclear Information System (INIS)

    Zhang, Y.; Ling, Z.Y.; Deng, S.B.; Du, H.A.; Yin, Y.H.; Yuan, J.; She, Q.; Chen, Y.Q.

    2014-01-01

    Associations between polymorphisms of the CD36 gene and susceptibility to coronary artery heart disease (CHD) are not clear. We assessed allele frequencies and genotype distributions of CD36 gene polymorphisms in 112 CHD patients and 129 control patients using semi-quantitative polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. Additionally, we detected CD36 mRNA expression by real-time quantitative PCR, and we quantified plasma levels of oxidized low-density lipoprotein (ox-LDL) using an enzyme-linked immunosorbent assay (ELISA). There were no significant differences between the two groups (P>0.05) in allele frequencies of rs1761667 or in genotype distribution and allele frequencies of rs3173798. The genotype distribution of rs1761667 significantly differed between CHD patients and controls (P=0.034), with a significantly higher frequency of the AG genotype in the CHD group compared to the control group (P=0.011). The plasma levels of ox-LDL in patients with the AG genotype were remarkably higher than those with the GG and AA genotypes (P=0.010). In a randomized sample taken from patients in the two groups, the CD36 mRNA expression of the CHD patients was higher than that of the controls. In CHD patients, the CD36 mRNA expression in AG genotype patients was remarkably higher than in those with an AA genotype (P=0.005). After adjusted logistic regression analysis, the AG genotype of rs1761667 was associated with an increased risk of CHD (OR=2.337, 95% CI=1.336-4.087, P=0.003). In conclusion, the rs1761667 polymorphism may be closely associated with developing CHD in the Chongqing Han population of China, and an AG genotype may be a genetic susceptibility factor for CHD

  8. Associations between CD36 gene polymorphisms and susceptibility to coronary artery heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Y.; Ling, Z.Y.; Deng, S.B.; Du, H.A.; Yin, Y.H.; Yuan, J.; She, Q.; Chen, Y.Q. [Department of Cardiology, The Second Affiliated Hospital, Chongqing Medical University, Chongqing (China)

    2014-08-08

    Associations between polymorphisms of the CD36 gene and susceptibility to coronary artery heart disease (CHD) are not clear. We assessed allele frequencies and genotype distributions of CD36 gene polymorphisms in 112 CHD patients and 129 control patients using semi-quantitative polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. Additionally, we detected CD36 mRNA expression by real-time quantitative PCR, and we quantified plasma levels of oxidized low-density lipoprotein (ox-LDL) using an enzyme-linked immunosorbent assay (ELISA). There were no significant differences between the two groups (P>0.05) in allele frequencies of rs1761667 or in genotype distribution and allele frequencies of rs3173798. The genotype distribution of rs1761667 significantly differed between CHD patients and controls (P=0.034), with a significantly higher frequency of the AG genotype in the CHD group compared to the control group (P=0.011). The plasma levels of ox-LDL in patients with the AG genotype were remarkably higher than those with the GG and AA genotypes (P=0.010). In a randomized sample taken from patients in the two groups, the CD36 mRNA expression of the CHD patients was higher than that of the controls. In CHD patients, the CD36 mRNA expression in AG genotype patients was remarkably higher than in those with an AA genotype (P=0.005). After adjusted logistic regression analysis, the AG genotype of rs1761667 was associated with an increased risk of CHD (OR=2.337, 95% CI=1.336-4.087, P=0.003). In conclusion, the rs1761667 polymorphism may be closely associated with developing CHD in the Chongqing Han population of China, and an AG genotype may be a genetic susceptibility factor for CHD.

  9. Beryllium R and D for fusion applications

    International Nuclear Information System (INIS)

    Scaffidi-Argentina, F.; Longhurst, G.R.; Shestakov, V.; Kawamura, H.

    2000-01-01

    Beryllium is one of the primary candidates as both plasma-facing material (PFM) and neutron multiplier in the next-step fusion reactors. Both sintered-product blocks and pebbles are considered in fusion reactor designs. Beryllium evaporated on carbon tiles has also been used in Joint European Torus (JET) and may be considered for other designs. Future efforts are directed toward the pebble form of beryllium. Research and evaluations of data are underway to determine the most attractive material processing approaches in terms of fabrication cost and quality; technical issues associated with heat transfer; thermal, mechanical and irradiation stability; safety and tritium release. Beryllium plasma-facing components will require periodic repair or replacement, therefore disposal or recycling of activated and tritiated beryllium will also be a concern. Beryllium as a component of the molten salt, Flibe is also being considered in novel approaches to the plasma-structure interface. This paper deals with the main issues related to the use of Be in a fusion reactor as both neutron multiplier and first wall material. These issues include potential reactions with steam during accidents and the health and environmental aspects of its use, reprocessing and reuse, or disposal

  10. Beryllium R and D for fusion applications

    Energy Technology Data Exchange (ETDEWEB)

    Scaffidi-Argentina, F. E-mail: francesco.scaffidi@iket.fzk.de; Longhurst, G.R.; Shestakov, V.; Kawamura, H

    2000-11-01

    Beryllium is one of the primary candidates as both plasma-facing material (PFM) and neutron multiplier in the next-step fusion reactors. Both sintered-product blocks and pebbles are considered in fusion reactor designs. Beryllium evaporated on carbon tiles has also been used in Joint European Torus (JET) and may be considered for other designs. Future efforts are directed toward the pebble form of beryllium. Research and evaluations of data are underway to determine the most attractive material processing approaches in terms of fabrication cost and quality; technical issues associated with heat transfer; thermal, mechanical and irradiation stability; safety and tritium release. Beryllium plasma-facing components will require periodic repair or replacement, therefore disposal or recycling of activated and tritiated beryllium will also be a concern. Beryllium as a component of the molten salt, Flibe is also being considered in novel approaches to the plasma-structure interface. This paper deals with the main issues related to the use of Be in a fusion reactor as both neutron multiplier and first wall material. These issues include potential reactions with steam during accidents and the health and environmental aspects of its use, reprocessing and reuse, or disposal.

  11. Tritium release from neutron irradiated beryllium pebbles

    Energy Technology Data Exchange (ETDEWEB)

    Scaffidi-Argentina, F.; Werle, H. [Forschungszentrum Karlsruhe GmbH Technik und Umwelt (Germany). Inst. fuer Neutronenphysik und Reactortechnik

    1998-01-01

    One of the most important open issues related to beryllium for fusion applications refers to the kinetics of the tritium release as a function of neutron fluence and temperature. The EXOTIC-7 as well as the `Beryllium` experiments carried out in the HFR reactor in Petten are considered as the most detailed and significant tests for investigating the beryllium response under neutron irradiation. This paper reviews the present status of beryllium post-irradiation examinations performed at the Forschungszentrum Karlsruhe with samples from the above mentioned irradiation experiments, trying to elucidate the tritium release controlling processes. In agreement with previous studies it has been found that release starts at about 500-550degC and achieves a maximum at about 700-750degC. The observed release at about 500-550degC is probably due to tritium escaping from chemical traps, while the maximum release at about 700-750degC is due to tritium escaping from physical traps. The consequences of a direct contact between beryllium and ceramics during irradiation, causing tritium implanting in a surface layer of beryllium up to a depth of about 40 mm and leading to an additional inventory which is usually several times larger than the neutron-produced one, are also presented and the effects on the tritium release are discussed. (author)

  12. Cultivar Variation in Hormonal Balance Is a Significant Determinant of Disease Susceptibility to Xanthomonas campestris pv. campestris in Brassica napus

    Directory of Open Access Journals (Sweden)

    Md. Tabibul Islam

    2017-12-01

    Full Text Available This study aimed to directly elucidate cultivar variation in disease susceptibility and disease responses in relation to hormonal status in the interaction of Brassica napus cultivars and Xanthomonas campestris pv. campestris (Xcc, the causal agent of black rot disease. Fully expanded leaves of six B. napus cultivars (cvs. Capitol, Youngsan, Saturnin, Colosse, Tamra, and Mosa were inoculated with Xcc. At 14 days post-inoculation with Xcc, cultivar variation in susceptibility or resistance was interpreted with defense responses as estimated by redox status, defensive metabolites, and expression of phenylpropanoid synthesis-related genes in relation to endogenous hormonal status. Disease susceptibility of six cultivars was distinguished by necrotic lesions in the Xcc-inoculated leaves and characterized concurrently based on the higher increase in reactive oxygen species and lipid peroxidation. Among these cultivars, as the susceptibility was higher, the ratios of abscisic acid (ABA/jasmonic acid (JA and salicylic acid (SA/JA tended to increase with enhanced expression of SA signaling regulatory gene NPR1 and transcriptional factor TGA1 and antagonistic suppression of JA-regulated gene PDF 1.2. In the resistant cultivar (cv. Capitol, accumulation of defensive metabolites with enhanced expression of genes involved in flavonoids (chalcone synthase, proanthocyanidins (anthocyanidin reductase, and hydroxycinnamic acids (ferulate-5-hydroxylase biosynthesis and higher redox status were observed, whereas the opposite results were obtained for susceptible cultivars (cvs. Mosa and Tamra. These results clearly indicate that cultivar variation in susceptibility to infection by Xcc was determined by enhanced alteration of the SA/JA ratio, as a negative regulator of redox status and phenylpropanoid synthesis in the Brasica napus–Xcc pathosystem.

  13. Comparison of 3T and 7T susceptibility-weighted angiography of the substantia nigra in diagnosing Parkinson disease.

    Science.gov (United States)

    Cosottini, M; Frosini, D; Pesaresi, I; Donatelli, G; Cecchi, P; Costagli, M; Biagi, L; Ceravolo, R; Bonuccelli, U; Tosetti, M

    2015-03-01

    Standard neuroimaging fails in defining the anatomy of the substantia nigra and has a marginal role in the diagnosis of Parkinson disease. Recently 7T MR target imaging of the substantia nigra has been useful in diagnosing Parkinson disease. We performed a comparative study to evaluate whether susceptibility-weighted angiography can diagnose Parkinson disease with a 3T scanner. Fourteen patients with Parkinson disease and 13 healthy subjects underwent MR imaging examination at 3T and 7T by using susceptibility-weighted angiography. Two expert blinded observers and 1 neuroradiology fellow evaluated the 3T and 7T images of the sample to identify substantia nigra abnormalities indicative of Parkinson disease. Diagnostic accuracy and intra- and interobserver agreement were calculated separately for 3T and 7T acquisitions. Susceptibility-weighted angiography 7T MR imaging can diagnose Parkinson disease with a mean sensitivity of 93%, specificity of 100%, and diagnostic accuracy of 96%. 3T MR imaging diagnosed Parkinson disease with a mean sensitivity of 79%, specificity of 94%, and diagnostic accuracy of 86%. Intraobserver and interobserver agreement was excellent at 7T. At 3T, intraobserver agreement was excellent for experts, and interobserver agreement ranged between good and excellent. The less expert reader obtained a diagnostic accuracy of 89% at 3T. Susceptibility-weighted angiography images obtained at 3T and 7T differentiate controls from patients with Parkinson disease with a higher diagnostic accuracy at 7T. The capability of 3T in diagnosing Parkinson disease might encourage its use in clinical practice. The use of the more accurate 7T should be supported by a dedicated cost-effectiveness study. © 2015 by American Journal of Neuroradiology.

  14. Wild rodents as a model to discover genes and pathways underlying natural variation in infectious disease susceptibility.

    Science.gov (United States)

    Turner, A K; Paterson, S

    2013-11-01

    Individuals vary in their susceptibility to infectious disease, and it is now well established that host genetic factors form a major component of this variation. The discovery of genes underlying susceptibility has the potential to lead to improved disease control, through the identification and management of vulnerable individuals and the discovery of novel therapeutic targets. Laboratory rodents have proved invaluable for ascertaining the function of genes involved in immunity to infection. However, these captive animals experience conditions very different to the natural environment, lacking the genetic diversity and environmental pressures characteristic of natural populations, including those of humans. It has therefore often proved difficult to translate basic laboratory research to the real world. In order to further our understanding of the genetic basis of infectious disease resistance, and the evolutionary forces that drive variation in susceptibility, we propose that genetic research traditionally conducted on laboratory animals is expanded to the more ecologically valid arena of natural populations. In this article, we highlight the potential of using wild rodents as a new resource for biomedical research, to link the functional genetic knowledge gained from laboratory rodents with the variation in infectious disease susceptibility observed in humans and other natural populations. © 2013 John Wiley & Sons Ltd.

  15. Estimating host genetic effects on susceptibility and infectivity to infectious diseases and their contribution to response to selection

    NARCIS (Netherlands)

    Anche, M.T.

    2016-01-01

    Mahlet Teka Anche. (2016). Estimating host genetic effects on susceptibility and infectivity to infectious diseases and their contribution to response to selection. PhD thesis, Wageningen University, the Netherlands

    Genetic approaches aiming to reduce the prevalence of an infection in a

  16. New susceptibility loci associated with kidney disease in type 1 diabetes.

    Directory of Open Access Journals (Sweden)

    Niina Sandholm

    2012-09-01

    Full Text Available Diabetic kidney disease, or diabetic nephropathy (DN, is a major complication of diabetes and the leading cause of end-stage renal disease (ESRD that requires dialysis treatment or kidney transplantation. In addition to the decrease in the quality of life, DN accounts for a large proportion of the excess mortality associated with type 1 diabetes (T1D. Whereas the degree of glycemia plays a pivotal role in DN, a subset of individuals with poorly controlled T1D do not develop DN. Furthermore, strong familial aggregation supports genetic susceptibility to DN. However, the genes and the molecular mechanisms behind the disease remain poorly understood, and current therapeutic strategies rarely result in reversal of DN. In the GEnetics of Nephropathy: an International Effort (GENIE consortium, we have undertaken a meta-analysis of genome-wide association studies (GWAS of T1D DN comprising ~2.4 million single nucleotide polymorphisms (SNPs imputed in 6,691 individuals. After additional genotyping of 41 top ranked SNPs representing 24 independent signals in 5,873 individuals, combined meta-analysis revealed association of two SNPs with ESRD: rs7583877 in the AFF3 gene (P = 1.2 × 10(-8 and an intergenic SNP on chromosome 15q26 between the genes RGMA and MCTP2, rs12437854 (P = 2.0 × 10(-9. Functional data suggest that AFF3 influences renal tubule fibrosis via the transforming growth factor-beta (TGF-β1 pathway. The strongest association with DN as a primary phenotype was seen for an intronic SNP in the ERBB4 gene (rs7588550, P = 2.1 × 10(-7, a gene with type 2 diabetes DN differential expression and in the same intron as a variant with cis-eQTL expression of ERBB4. All these detected associations represent new signals in the pathogenesis of DN.

  17. Beryllium electrodeposition on aluminium cathode from chloride melts

    International Nuclear Information System (INIS)

    Nichkov, I.F.; Novikov, E.A.; Serebryakov, G.A.; Kanashin, Yu.P.; Sardyko, G.N.

    1980-01-01

    Cathodic processes during beryllium deposition on liquid and solid aluminium cathodes are investigated. Mixture of sodium, potassium and beryllium chloride melts served as an lectrolyte. Beryllium ion discharge at the expense of alloy formation takes place at more positive potentials than on an indifferent cathode at low current densities ( in the case of liquid aluminium cathode). Metallographic analysis and measurements of microhardness have shown, that the cathodic product includes two phases: beryllium solid solution in aluminium and metallic beryllium. It is concluded, that aluminium-beryllium alloys with high cathodic yield by current can be obtained by the electrolytic method

  18. Sanitary-hygienic and ecological aspects of beryllium production

    Energy Technology Data Exchange (ETDEWEB)

    Dvinskykh, E.M.; Savchuk, V.V.; Sidorov, V.L.; Slobodin, D.B.; Tuzov, Y.V. [Ulba Metallurgical Plant, Ust-Kamenogorsk (Kazakhstan)

    1998-01-01

    The Report describes An organization of sanitary-hygienic and ecological control of beryllium production at Ulba metallurgical plant. It involves: (1) the consideration of main methods for protection of beryllium production personnel from unhealthy effect of beryllium, (2) main kinds of filters, used in gas purification systems at different process areas, (3) data on beryllium monitoring in water, soil, on equipment. This Report also outlines problems connected with designing devices for a rapid analysis of beryllium in air as well as problems of beryllium production on ecological situation in the town. (author)

  19. Beryllium satellite thrust cone design, manufacture and test

    International Nuclear Information System (INIS)

    Schneiter, H.; Chandler, D.

    1977-01-01

    Pre-formed beryllium sheet material has been used in the design, manufacturing and test of a satellite thrust cone structure. Adhesive bonding was used for attachment of aluminium flanges and conical segment lap strips. Difficulties in beryllium structure design such as incompatibilities with aluminium and handling problems are discussed. Testing to optimize beryllium-beryllium and beryllium-aluminium adhesive bonds is described. The completed thrust cone assembly has been subjected to static load testing and the results are presented. A summary of the relative merits of the use of beryllium in satellite structures is given with recommendations for future users. (author)

  20. Beryllium-rich intermediate phases in beryllium alloys

    International Nuclear Information System (INIS)

    Raynor, G.V.

    1977-01-01

    The results of a survey of the factors affecting the formation of phases of stoichiometry MBe 5 , M 2 Be 17 , MBe 12 and MBe 13 are presented. Using published information it is shown that the structures adopted at the higher Be:M ratios involve different characteristics from those adopted at lower Be:M ratios. In the ThMn 12 and NaZn 13 structures adopted in the former case dsub(M-Be) > (rsub(M) + rsub(Be)), (where the atomic radii refer to coordination number 12) and the dsub(Be-Be) distances are contracted. In the CaCu 5 structure adopted at composition MBe 5 , dsub(M-Be) < (rsub(M) + rsub(Be)) and interactions between unlike atoms are significant. The structural characteristics, occurrence, and the stabilities of these phases, and of the others mentioned above, are discussed in terms of atomic radius ratios, the position of the M component in the periodic table, and the value of the univalent ionic radius of the M component, taken as a measure of the extension in space of the hard incompressible ionic core. Though the compound-forming characteristics of beryllium are largely dictated by its small atomic diameter, other factors such as the nature of the bonding which can be exerted by the partner atoms are also significant. In particular, the proportions of the volumes of the atoms which are occupied by the hard incompressible ionic cores assume importance. (author)

  1. Thermomechanical testing of beryllium for the JET/ISX-B beryllium limiter experiment

    International Nuclear Information System (INIS)

    Watson, R.D.; Smith, M.F.; Whitley, J.B.; McDonald, J.M.

    1984-01-01

    Materials testing of S-65-B beryllium has been conducted in support of the beryllium limiter experiment on the ISX-B tokamak. The S-65-B grade of hot-pressed beryllium was chosen over S-200-E because of its superior strength and ductility at elevated temperatures. The testing has included measurement of tensile and yield strength, ductility, Young's Modulus, thermal conductivity, and specific heat from 50 0 C to 700 0 C. Thermal fatigue testing of a 2.5 cm beryllium cube was conducted using an electron beam to apply a heat flux of 2.5 kw/cm 2 for 0.3 second pulses for 1500 cycles. Results from the tests are compared to elastic-plastic finite element stress calculations. The testing indicates that the ISX-B beryllium limiter should survive the tokamak environment without serious structural failure, although some surface cracking is expected to occur. (author)

  2. [Genetics and susceptibility to human papillomaviruses: epidermodysplasia verruciformis, a disease model].

    Science.gov (United States)

    Orth, Gérard

    2010-06-01

    The outcomes of infection by human papillomaviruses (HPV), both oncogenic and non oncogenic, show major interindividual variability The underlying genetic factors and mechanisms are poorly known, but their complexity is illustrated by epidermodysplasia verruciformis (EV), a rare autosomal recessive genodermatosis associated with a high risk of non melanoma skin cancer. This model disease is characterized by abnormal susceptibility to widespread betapapillomaviruses, including HPV-5, a virus associated with EV cancers. Most cases of EV are caused by a mutation that inactivates either of two related genes, EVER1 and EVER2. This inactivation likely compensates for the absence of a viral gene (E5 or E8) essential for HPV pathogenicity. Proteins E5 and E8 interfere with the interaction between EVER proteins and ZnT1, a zinc transporter EV is thus likely to represent a primary defect of intrinsic (constitutive) immunity or innate immunity to betapapillomaviruses, involving modulation of zinc homeostasis upon keratinocyte infection. It remains to be established which cellular genes are involved in intrinsic, innate or acquired immune responses to other human papillomaviruses, including oncogenic genital types.

  3. Homologues of CsLOB1 in citrus function as disease susceptibility genes in citrus canker.

    Science.gov (United States)

    Zhang, Junli; Huguet-Tapia, Jose Carlos; Hu, Yang; Jones, Jeffrey; Wang, Nian; Liu, Sanzhen; White, Frank F

    2017-08-01

    The lateral organ boundary domain (LBD) genes encode a group of plant-specific proteins that function as transcription factors in the regulation of plant growth and development. Citrus sinensis lateral organ boundary 1 (CsLOB1) is a member of the LBD family and functions as a disease susceptibility gene in citrus bacterial canker (CBC). Thirty-four LBD members have been identified from the Citrus sinensis genome. We assessed the potential for additional members of LBD genes in citrus to function as surrogates for CsLOB1 in CBC, and compared host gene expression on induction of different LBD genes. Using custom-designed transcription activator-like (TAL) effectors, two members of the same clade as CsLOB1, named CsLOB2 and CsLOB3, were found to be capable of functioning similarly to CsLOB1 in CBC. RNA sequencing and quantitative reverse transcription-polymerase chain reaction analyses revealed a set of cell wall metabolic genes that are associated with CsLOB1, CsLOB2 and CsLOB3 expression and may represent downstream genes involved in CBC. © 2016 BSPP AND JOHN WILEY & SONS LTD.

  4. Age-associated sperm DNA methylation alterations: possible implications in offspring disease susceptibility.

    Science.gov (United States)

    Jenkins, Timothy G; Aston, Kenneth I; Pflueger, Christian; Cairns, Bradley R; Carrell, Douglas T

    2014-07-01

    Recent evidence demonstrates a role for paternal aging on offspring disease susceptibility. It is well established that various neuropsychiatric disorders (schizophrenia, autism, etc.), trinucleotide expansion associated diseases (myotonic dystrophy, Huntington's, etc.) and even some forms of cancer have increased incidence in the offspring of older fathers. Despite strong epidemiological evidence that these alterations are more common in offspring sired by older fathers, in most cases the mechanisms that drive these processes are unclear. However, it is commonly believed that epigenetics, and specifically DNA methylation alterations, likely play a role. In this study we have investigated the impact of aging on DNA methylation in mature human sperm. Using a methylation array approach we evaluated changes to sperm DNA methylation patterns in 17 fertile donors by comparing the sperm methylome of 2 samples collected from each individual 9-19 years apart. With this design we have identified 139 regions that are significantly and consistently hypomethylated with age and 8 regions that are significantly hypermethylated with age. A representative subset of these alterations have been confirmed in an independent cohort. A total of 117 genes are associated with these regions of methylation alterations (promoter or gene body). Intriguingly, a portion of the age-related changes in sperm DNA methylation are located at genes previously associated with schizophrenia and bipolar disorder. While our data does not establish a causative relationship, it does raise the possibility that the age-associated methylation of the candidate genes that we observe in sperm might contribute to the increased incidence of neuropsychiatric and other disorders in the offspring of older males. However, further study is required to determine whether, and to what extent, a causative relationship exists.

  5. Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus.

    Directory of Open Access Journals (Sweden)

    Anna L Mitchell

    Full Text Available Autoimmune Addison's disease (AAD is a rare, highly heritable autoimmune endocrinopathy. It is possible that there may be some highly penetrant variants which confer disease susceptibility that have yet to be discovered.DNA samples from 23 multiplex AAD pedigrees from the UK and Norway (50 cases, 67 controls were genotyped on the Affymetrix SNP 6.0 array. Linkage analysis was performed using Merlin. EMMAX was used to carry out a genome-wide association analysis comparing the familial AAD cases to 2706 UK WTCCC controls. To explore some of the linkage findings further, a replication study was performed by genotyping 64 SNPs in two of the four linked regions (chromosomes 7 and 18, on the Sequenom iPlex platform in three European AAD case-control cohorts (1097 cases, 1117 controls. The data were analysed using a meta-analysis approach.In a parametric analysis, applying a rare dominant model, loci on chromosomes 7, 9 and 18 had LOD scores >2.8. In a non-parametric analysis, a locus corresponding to the HLA region on chromosome 6, known to be associated with AAD, had a LOD score >3.0. In the genome-wide association analysis, a SNP cluster on chromosome 2 and a pair of SNPs on chromosome 6 were associated with AAD (P <5x10-7. A meta-analysis of the replication study data demonstrated that three chromosome 18 SNPs were associated with AAD, including a non-synonymous variant in the NFATC1 gene.This linkage study has implicated a number of novel chromosomal regions in the pathogenesis of AAD in multiplex AAD families and adds further support to the role of HLA in AAD. The genome-wide association analysis has also identified a region of interest on chromosome 2. A replication study has demonstrated that the NFATC1 gene is worthy of future investigation, however each of the regions identified require further, systematic analysis.

  6. Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus.

    Science.gov (United States)

    Mitchell, Anna L; Bøe Wolff, Anette; MacArthur, Katie; Weaver, Jolanta U; Vaidya, Bijay; Erichsen, Martina M; Darlay, Rebecca; Husebye, Eystein S; Cordell, Heather J; Pearce, Simon H S

    2015-01-01

    Autoimmune Addison's disease (AAD) is a rare, highly heritable autoimmune endocrinopathy. It is possible that there may be some highly penetrant variants which confer disease susceptibility that have yet to be discovered. DNA samples from 23 multiplex AAD pedigrees from the UK and Norway (50 cases, 67 controls) were genotyped on the Affymetrix SNP 6.0 array. Linkage analysis was performed using Merlin. EMMAX was used to carry out a genome-wide association analysis comparing the familial AAD cases to 2706 UK WTCCC controls. To explore some of the linkage findings further, a replication study was performed by genotyping 64 SNPs in two of the four linked regions (chromosomes 7 and 18), on the Sequenom iPlex platform in three European AAD case-control cohorts (1097 cases, 1117 controls). The data were analysed using a meta-analysis approach. In a parametric analysis, applying a rare dominant model, loci on chromosomes 7, 9 and 18 had LOD scores >2.8. In a non-parametric analysis, a locus corresponding to the HLA region on chromosome 6, known to be associated with AAD, had a LOD score >3.0. In the genome-wide association analysis, a SNP cluster on chromosome 2 and a pair of SNPs on chromosome 6 were associated with AAD (P <5x10-7). A meta-analysis of the replication study data demonstrated that three chromosome 18 SNPs were associated with AAD, including a non-synonymous variant in the NFATC1 gene. This linkage study has implicated a number of novel chromosomal regions in the pathogenesis of AAD in multiplex AAD families and adds further support to the role of HLA in AAD. The genome-wide association analysis has also identified a region of interest on chromosome 2. A replication study has demonstrated that the NFATC1 gene is worthy of future investigation, however each of the regions identified require further, systematic analysis.

  7. Age-associated sperm DNA methylation alterations: possible implications in offspring disease susceptibility.

    Directory of Open Access Journals (Sweden)

    Timothy G Jenkins

    2014-07-01

    Full Text Available Recent evidence demonstrates a role for paternal aging on offspring disease susceptibility. It is well established that various neuropsychiatric disorders (schizophrenia, autism, etc., trinucleotide expansion associated diseases (myotonic dystrophy, Huntington's, etc. and even some forms of cancer have increased incidence in the offspring of older fathers. Despite strong epidemiological evidence that these alterations are more common in offspring sired by older fathers, in most cases the mechanisms that drive these processes are unclear. However, it is commonly believed that epigenetics, and specifically DNA methylation alterations, likely play a role. In this study we have investigated the impact of aging on DNA methylation in mature human sperm. Using a methylation array approach we evaluated changes to sperm DNA methylation patterns in 17 fertile donors by comparing the sperm methylome of 2 samples collected from each individual 9-19 years apart. With this design we have identified 139 regions that are significantly and consistently hypomethylated with age and 8 regions that are significantly hypermethylated with age. A representative subset of these alterations have been confirmed in an independent cohort. A total of 117 genes are associated with these regions of methylation alterations (promoter or gene body. Intriguingly, a portion of the age-related changes in sperm DNA methylation are located at genes previously associated with schizophrenia and bipolar disorder. While our data does not establish a causative relationship, it does raise the possibility that the age-associated methylation of the candidate genes that we observe in sperm might contribute to the increased incidence of neuropsychiatric and other disorders in the offspring of older males. However, further study is required to determine whether, and to what extent, a causative relationship exists.

  8. Physiological and pathological adaptations in dairy cows that may increase susceptibility to periparturient diseases and disorders

    Directory of Open Access Journals (Sweden)

    Juan J. Loor

    2010-01-01

    Full Text Available Dairy cows undergo tremendous metabolic and physiological adaptations around parturition to support lactation. The liver  is central to many of these processes, including gluconeogenesis and metabolism of fatty acids mobilized from adipose tis-  sue. Fat accumulation may impair normal functions of the liver and increase ketogenesis, which in turn may predispose cows  to other metabolic abnormalities. Several aspects of dietary management and body condition may alter these adaptations,  affect dry matter intake, and increase or decrease susceptibility to periparturient health problems. Overfeeding energy dur-  ing the dry period is a prominent risk factor. Considerable progress has been made in recent years in describing the adap-  tive changes in the liver and other organs in normal and abnormal states, but this knowledge has not yet identified unequiv-  ocally the key steps that might be compromised during development of metabolic disorders. The potential role of signaling  compounds, such as the inflammatory cytokines released in response to environmental stressors, infectious challenge, and  oxidative stress, in the pathogenesis of periparturient disease is under investigation. New techniques such as functional  genomics, using cDNA or oligonucleotide microarrays, as well as proteomics and metabolomics, provide additional high-  throughput tools to determine the effects of nutrition, management, or stressors on tissue function in development of dis-  ease. Integrative approaches should be fruitful in unraveling the complex interactions of metabolism, immune activation,  stress physiology, and endocrinology that likely underlie development of periparturient disease

  9. Large scale association analysis identifies three susceptibility loci for coronary artery disease.

    Directory of Open Access Journals (Sweden)

    Stephanie Saade

    Full Text Available Genome wide association studies (GWAS and their replications that have associated DNA variants with myocardial infarction (MI and/or coronary artery disease (CAD are predominantly based on populations of European or Eastern Asian descent. Replication of the most significantly associated polymorphisms in multiple populations with distinctive genetic backgrounds and lifestyles is crucial to the understanding of the pathophysiology of a multifactorial disease like CAD. We have used our Lebanese cohort to perform a replication study of nine previously identified CAD/MI susceptibility loci (LTA, CDKN2A-CDKN2B, CELSR2-PSRC1-SORT1, CXCL12, MTHFD1L, WDR12, PCSK9, SH2B3, and SLC22A3, and 88 genes in related phenotypes. The study was conducted on 2,002 patients with detailed demographic, clinical characteristics, and cardiac catheterization results. One marker, rs6922269, in MTHFD1L was significantly protective against MI (OR=0.68, p=0.0035, while the variant rs4977574 in CDKN2A-CDKN2B was significantly associated with MI (OR=1.33, p=0.0086. Associations were detected after adjustment for family history of CAD, gender, hypertension, hyperlipidemia, diabetes, and smoking. The parallel study of 88 previously published genes in related phenotypes encompassed 20,225 markers, three quarters of which with imputed genotypes The study was based on our genome-wide genotype data set, with imputation across the whole genome to HapMap II release 22 using HapMap CEU population as a reference. Analysis was conducted on both the genotyped and imputed variants in the 88 regions covering selected genes. This approach replicated HNRNPA3P1-CXCL12 association with CAD and identified new significant associations of CDKAL1, ST6GAL1, and PTPRD with CAD. Our study provides evidence for the importance of the multifactorial aspect of CAD/MI and describes genes predisposing to their etiology.

  10. Long-term follow-up of beryllium sensitized workers from a single employer

    Directory of Open Access Journals (Sweden)

    Curtis Anne M

    2010-01-01

    Full Text Available Abstract Background Up to 12% of beryllium-exposed American workers would test positive on beryllium lymphocyte proliferation test (BeLPT screening, but the implications of sensitization remain uncertain. Methods Seventy two current and former employees of a beryllium manufacturer, including 22 with pathologic changes of chronic beryllium disease (CBD, and 50 without, with a confirmed positive test were followed-up for 7.4 +/-3.1 years. Results Beyond predicted effects of aging, flow rates and lung volumes changed little from baseline, while DLCO dropped 17.4% of predicted on average. Despite this group decline, only 8 subjects (11.1% demonstrated physiologic or radiologic abnormalities typical of CBD. Other than baseline status, no clinical or laboratory feature distinguished those who clinically manifested CBD at follow-up from those who did not. Conclusions The clinical outlook remains favorable for beryllium-sensitized individuals over the first 5-12 years. However, declines in DLCO may presage further and more serious clinical manifestations in the future. These conclusions are tempered by the possibility of selection bias and other study limitations.

  11. Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations

    NARCIS (Netherlands)

    Einarsdottir, Elisabet; Bevova, Marianna R.; Zhernakova, Alexandra; Monsuur, Alienke; Koskinen, Lotta L. E.; van't Slot, Ruben; Mulder, Chris; Mearin, M. Luisa; Korponay-Szabo, Ilma R.; Kaukinen, Katri; Kurppa, Kalle; Kere, Juha; Maki, Markku; Wijmenga, Cisca; Saavalainen, Paivi

    Celiac disease is an inflammatory enteropathy caused by intolerance to gluten. Previous linkage studies in the Dutch, Finnish and Hungarian populations have revealed a locus on chromosome 6q21-22 conferring susceptibility to celiac disease. This locus has previously been implicated in susceptibility

  12. Sex differences in metabolic aging of the brain: insights into female susceptibility to Alzheimer's disease.

    Science.gov (United States)

    Zhao, Liqin; Mao, Zisu; Woody, Sarah K; Brinton, Roberta D

    2016-06-01

    Despite recent advances in the understanding of clinical aspects of sex differences in Alzheimer's disease (AD), the underlying mechanisms, for instance, how sex modifies AD risk and why the female brain is more susceptible to AD, are not clear. The purpose of this study is to elucidate sex disparities in brain aging profiles focusing on 2 major areas-energy and amyloid metabolism-that are most significantly affected in preclinical development of AD. Total RNA isolated from hippocampal tissues of both female and male 129/C57BL/6 mice at ages of 6, 9, 12, or 15 months were comparatively analyzed by custom-designed Taqman low-density arrays for quantitative real-time polymerase chain reaction detection of a total of 182 genes involved in a broad spectrum of biological processes modulating energy production and amyloid homeostasis. Gene expression profiles revealed substantial differences in the trajectory of aging changes between female and male brains. In female brains, 44.2% of genes were significantly changed from 6 months to 9 months and two-thirds showed downregulation. In contrast, in male brains, only 5.4% of genes were significantly altered at this age transition. Subsequent changes in female brains were at a much smaller magnitude, including 10.9% from 9 months to 12 months and 6.1% from 12 months to 15 months. In male brains, most changes occurred from 12 months to 15 months and the majority were upregulated. Furthermore, gene network analysis revealed that clusterin appeared to serve as a link between the overall decreased bioenergetic metabolism and increased amyloid dyshomeostasis associated with the earliest transition in female brains. Together, results from this study indicate that: (1) female and male brains follow profoundly dissimilar trajectories as they age; (2) female brains undergo age-related changes much earlier than male brains; (3) early changes in female brains signal the onset of a hypometabolic phenotype at risk for AD. These

  13. Parental genetic diversity of brown trout (Salmo trutta m. fario) brood stock affects offspring susceptibility to whirling disease.

    Science.gov (United States)

    Eszterbauer, Edit; Forró, Barbara; Tolnai, Zoltán; Guti, Csaba Ferenc; Zsigmond, Gergely; Hoitsy, György; Kallert, Dennis Marc

    2015-03-03

    Whirling disease, caused by the myxozoan parasite Myxobolus cerebralis, has high economical and ecological importance worldwide. Susceptibility to the disease varies considerably among salmonid species. In brown trout (Salmo trutta) the infection is usually subclinical with low mortality, which increases the risk of parasite dissemination, especially when farm fish are used for stocking natural habitats. The influence of intraspecific genetic differences (especially the level of homozygosity) on susceptibility is unknown. Therefore, we examined the possible correlations between parental genetic diversity and offspring susceptibility of brown trout stocks to whirling disease. Two brown trout brood stocks from a German and a Hungarian fish farm were genetically characterized using microsatellite and lineage-specific genetic markers. The individual inbreeding coefficient f and pairwise relatedness factor r were estimated based on eight microsatellite markers. Brood stock populations were divided into groups according to low and high f and r value estimates and subjected to selective fertilization. The offspring from these separate groups were exposed to M. cerebralis actinospores, and the infection prevalence and intensity was measured and statistically analysed. The analysis of phylogeographic lineage heritage revealed high heterogeneity in the Hungarian brood stock since > 50% of individuals were Atlantic-Danubian hybrids, while only pure Atlantic-descending specimens were detected in the German population. Based on f msat and r msat estimations, classified non-inbred (NIB), inbred (IB) and a group of closely related fish (REL) were created. The susceptibility of their offspring varied considerably. Although there was no significant difference in the prevalence of M. cerebralis infection, the mean intensity of infection differed significantly between NIB and IB groups. In REL and IB groups, a high variability was observed in infection intensity. No external

  14. T-cell receptor variable genes and genetic susceptibility to celiac disease: an association and linkage study.

    Science.gov (United States)

    Roschmann, E; Wienker, T F; Gerok, W; Volk, B A

    1993-12-01

    Genetic susceptibility of celiac disease is primarily associated with a particular combination of and HLA-DQA1/DQB1 gene; however, this does not fully account for the genetic predisposition. Therefore, the aim of this study was to examine whether T-cell receptor (TCR) genes may be susceptibility genes in celiac disease. HLA class II typing was performed by polymerase chain reaction amplification in combination with sequence-specific oligonucleotide hybridization. TCR alpha (TCRA), TCR gamma (TCRG), and TCR beta (TCRB) loci were investigated by restriction fragment length polymorphism analysis. Allelic frequencies of TCRA, TCRG, and TCRB variable genes were compared between patients with celiac disease (n = 53) and control patients (n = 67), and relative risk (RR) estimates were calculated. The RR was 1.67 for allele C1 at TCRA1, 3.35 for allele D2 at TCRA2, 1.66 for allele B2 at TCRG, and 1.35 for allele B at TCRB, showing no significant association. Additionally, linkage analysis was performed in 23 families. The logarithm of odd scores for celiac disease vs. the TCR variable genes at TCRA, TCRG, and TCRB showed no significant linkage. These data suggest that the analyzed TCR variable gene segments V alpha 1.2, V gamma 11, and V beta 8 do not play a major role in susceptibility to celiac disease.

  15. Beyond retrograde and anterograde signalling: mitochondrial-nuclear interactions as a means for evolutionary adaptation and contemporary disease susceptibility.

    Science.gov (United States)

    Ballinger, Scott W

    2013-02-01

    Although there is general agreement that most forms of common disease develop as a consequence of a combination of factors, including genetic, environmental and behavioural contributors, the actual mechanistic basis of how these factors initiate or promote diabetes, cancer, neurodegenerative and cardiovascular diseases in some individuals but not in others with seemingly identical risk factor profiles, is not clearly understood. In this respect, consideration of the potential role for mitochondrial genetics, damage and function in influencing common disease susceptibility seems merited, given that the prehistoric challenges were the original factors that moulded cellular function, and these were based upon the mitochondrial-nuclear relationships that were established during evolutionary history. These interactions were probably refined during prehistoric environmental selection events that, at present, are largely absent. Contemporary risk factors such as diet, sedentary lifestyle and increased longevity, which influence our susceptibility to a variety of chronic diseases were not part of the dynamics that defined the processes of mitochondrial-nuclear interaction, and thus cell function. Consequently, the prehistoric challenges that contributed to cell functionality and evolution should be considered when interpreting and designing experimental data and strategies. Although several molecular epidemiological studies have generally supported this notion, studies that probe beyond these associations are required. Such investigation will mark the initial steps for mechanistically addressing the provocative concept that contemporary human disease susceptibility is the result of prehistoric selection events for mitochondrial-nuclear function, which increased the probability for survival and reproductive success during evolution.

  16. Beryllium. Health hazards and their control. Pt. 2

    International Nuclear Information System (INIS)

    Lires, O.A.; Delfino, C.A.; Botbol, J.

    1991-01-01

    In this work (continuation of 'Beryllium' series) health hazards, toxic effects, limits of permissible atmospheric contamination and safe exposure to beryllium are described. Guidelines to the design, control operations and hygienic precautions of the working facilities are given. (Author) [es

  17. Mechanical performance of irradiated beryllium pebbles

    Energy Technology Data Exchange (ETDEWEB)

    Scaffidi-Argentina, F.; Dalle-Donne, M.; Werle, H. [Forschungszentrum Karlsruhe GmbH Technik und Umwelt (Germany). Inst. fuer Neutronenphysik und Reaktortechnik

    1998-01-01

    For the Helium Cooled Pebble Bed (HCPB) Blanket, which is one of the two reference concepts studied within the European Fusion Technology Programme, the neutron multiplier consists of a mixed bed of about 2 and 0.1-0.2 mm diameter beryllium pebbles. Beryllium has no structural function in the blanket, however microstructural and mechanical properties are important, as they might influence the material behavior under neutron irradiation. The EXOTIC-7 as well as the `Beryllium` experiments carried out in the HFR reactor in Petten are considered as the most detailed and significant tests for investigating it. This paper reviews the present status of beryllium post-irradiation examinations performed at the Forschungszentrum Karlsruhe with samples from these irradiation experiments, emphasizing the effects of irradiation of essential material properties and trying to elucidate the processes controlling the property changes. The microstructure, the porosity distribution, the impurity content, the behavior under compression loads and the compatibility of the beryllium pebbles with lithium orthosilicate (Li{sub 4}SiO{sub 4}) during the in-pile irradiation are presented and critically discussed. Qualitative information on ductility and creep obtained by hardness-type measurements are also supplied. (author)

  18. Experiments on tritium behavior in beryllium, (1)

    International Nuclear Information System (INIS)

    Kawamura, Hiroshi; Ishizuka, Etsuo; Matsumoto, Mikio; Inada, Seiji; Sezaki, Katsuji; Saito, Minoru; Kato, Mineo.

    1989-06-01

    In JMTR, it was observed that the tritium concentration of the primary coolant increases with the reactor operation at 50 MW. As one of the tritium generation sources, we paid attention to a neutron reflector made of beryllium because the tritium generation rate in the beryllium is bigger than other components in the reactor core. On the other hand, the irradiation test of blanket materials (i.e. tritium breeding materials and neutron multipling materials) are planned for development of the fusion reactor in JMTR and the beryllium will be also irradiated as a neutron multiplier with tritium breeding materials. Therefore, as the irradiated specimens, we used a hot-pressed beryllium disk fabricated by the same method as the neutron reflector or the neutron multiplier and conducted the irradiation tests in JMTR. The purpose of these tests are to clarify the tritium behavior in the hot-pressed beryllium. In this paper, from a viewpoint of the fabrication of capsules for neutron irradiation, the specifications of the irradiated specimens and capsules are summarized. Additionally, the results on the puncture test of the container of the irradiation specimens are described. (author)

  19. Effect of machining damage on tensile properties of beryllium

    International Nuclear Information System (INIS)

    Hanafee, J.E.

    1976-01-01

    It is well established that damage introduced at the surface of beryllium during machining operations can lower its mechanical properties. Tensile tests were conducted to illustrate this on beryllium presently being used for parts in the W79 program and similar to the new powder-processed beryllium specified for production (tentative specification MEL 76-001319). The objective of this study is to quantitatively illuminate the importance of controlling machining damage in this particular grade of powder-processed beryllium

  20. Genetic susceptibility, colony size, and water temperature drive white-pox disease on the coral Acropora palmata.

    Science.gov (United States)

    Muller, Erinn M; van Woesik, Robert

    2014-01-01

    Outbreaks of coral diseases are one of the greatest threats to reef corals in the Caribbean, yet the mechanisms that lead to coral diseases are still largely unknown. Here we examined the spatial-temporal dynamics of white-pox disease on Acropora palmata coral colonies of known genotypes. We took a Bayesian approach, using Integrated Nested Laplace Approximation algorithms, to examine which covariates influenced the presence of white-pox disease over seven years. We showed that colony size, genetic susceptibility of the coral host, and high-water temperatures were the primary tested variables that were positively associated with the presence of white-pox disease on A. palmata colonies. Our study also showed that neither distance from previously diseased individuals, nor colony location, influenced the dynamics of white-pox disease. These results suggest that white-pox disease was most likely a consequence of anomalously high water temperatures that selectively compromised the oldest colonies and the most susceptible coral genotypes.

  1. Genetic susceptibility, colony size, and water temperature drive white-pox disease on the coral Acropora palmata.

    Directory of Open Access Journals (Sweden)

    Erinn M Muller

    Full Text Available Outbreaks of coral diseases are one of the greatest threats to reef corals in the Caribbean, yet the mechanisms that lead to coral diseases are still largely unknown. Here we examined the spatial-temporal dynamics of white-pox disease on Acropora palmata coral colonies of known genotypes. We took a Bayesian approach, using Integrated Nested Laplace Approximation algorithms, to examine which covariates influenced the presence of white-pox disease over seven years. We showed that colony size, genetic susceptibility of the coral host, and high-water temperatures were the primary tested variables that were positively associated with the presence of white-pox disease on A. palmata colonies. Our study also showed that neither distance from previously diseased individuals, nor colony location, influenced the dynamics of white-pox disease. These results suggest that white-pox disease was most likely a consequence of anomalously high water temperatures that selectively compromised the oldest colonies and the most susceptible coral genotypes.

  2. Occupational and non-occupational allergic contact dermatitis from beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Vilaplana, J; Romaguera, C; Grimalt, F [Allergy Department, Dermatological Service Hospital Clinico, Barcelona (Spain)

    1992-01-01

    There are various references to sensitization to beryllium in the literature. Since introducing a patch testing series for patients with suspected sensitization to metals, we have found 3 cases of sensitization to beryllium. Of these 3 cases, we regard the first 2 as having relevant sensitization. Beryllium chloride (1% pet.) was positive in 3 patients and negative in 150 controls. (au).

  3. Occupational and non-occupational allergic contact dermatitis from beryllium

    International Nuclear Information System (INIS)

    Vilaplana, J.; Romaguera, C.; Grimalt, F.

    1992-01-01

    There are various references to sensitization to beryllium in the literature. Since introducing a patch testing series for patients with suspected sensitization to metals, we have found 3 cases of sensitization to beryllium. Of these 3 cases, we regard the first 2 as having relevant sensitization. Beryllium chloride (1% pet.) was positive in 3 patients and negative in 150 controls. (au)

  4. Toll like receptor7 polymorphisms in relation to disease susceptibility and progression in Chinese patients with chronic HBV infection.

    Science.gov (United States)

    Zhu, Junping; Zhang, Tong; Cao, Lina; Li, Aixin; Zheng, Kai; Zhang, Nan; Su, Bin; Chen, Zhiyun; Chen, Ning; Wu, Hao; He, Qiushui

    2017-09-29

    Toll-like receptors (TLRs) play a key role in innate and adaptive immunity, protecting the host from viral pathogens. We studied the effect of TLR7 polymorphisms on disease susceptibility and progression of chronic hepatitis B (CHB) infection in Chinese adults. Blood samples were taken from 612 patients with confirmed CHB, hepatitis B virus (HBV)-related liver cirrhosis (LC) or hepatocellular carcinoma (HCC) and 293 controls. TLR7 polymorphisms (rs179010-C > T, rs2074109-T > C, and rs179009-A > G) were analyzed by PCR-based sequencing. A significantly higher frequency of TLR7 rs179010 C allele was found in male CHB patients than in controls (74.8% vs 59.5%, P = 0.002). The frequency of rs179009 G allele was markedly increased with disease progression when male patients with CHB, LC and HCC were compared (P = 0.012). The haplotype CTA was significantly associated with an increased susceptibility to CHB among male patients (P = 0.000). Frequency of the haplotype CTG was higher in male patients with HCC than CHB (P = 0.005). No such differences in these allele frequencies were found between female patients and controls. Our results indicated that TLR7 polymorphisms play an important role in disease susceptibility and the progression of CHB infections in Chinese adults, and may partly explain the high incidence of HBV related diseases in Chinese men.

  5. Comprehensive analysis of three TYK2 gene variants in the susceptibility to Chagas disease infection and cardiomyopathy

    Science.gov (United States)

    Carmona, F. David; Dolade, Nuria; Vargas, Sofia; Echeverría, Luis Eduardo; González, Clara Isabel; Martin, Javier

    2018-01-01

    Tyrosine kinase 2 (TYK2) is a member of the Janus kinases family implicated in the signal transduction of type I interferons and several interleukins. It has been described that genetic mutations within TYK2 lead to multiple deleterious effects in the immune response. In this work, we have analyzed three functional independent variants from the frequency spectrum on the TYK2 gene (common and low-frequency variants) suggested to reduce the function of the gene in mediating cytokine signaling and the susceptibility to infections by Trypanosoma cruzi and/or the development of Chagas cardiomyopathy in the Colombian population. A total of 1,323 individuals from a Colombian endemic region for Chagas disease were enrolled in the study. They were classified as seronegative (n = 445), seropositive asymptomatic (n = 336), and chronic Chagas Cardiomyopathy subjects (n = 542). DNA samples were genotyped using TaqMan probes. Our results showed no statistically significant differences between the allelic frequencies of the three analyzed variants when seropositive and seronegative individuals were compared, therefore these variants were not associated with susceptibility to Chagas disease. Moreover, when Chagas cardiomyopathy patients were compared to asymptomatic patients, no significant associations were found. Previous reports highlighted the association of this gene in immune-related disorders under an autoimmunity context, but not predisposing patients to infectious diseases, which is consistent with our findings. Therefore, according to our results, TYK2 gene variants do not seem to play an important role in Chagas disease susceptibility and/or chronic Chagas cardiomyopathy. PMID:29304122

  6. Beryllium phonon spectrum from cold neutron measurements

    International Nuclear Information System (INIS)

    Bulat, I.A.

    1979-01-01

    The inelastic coherent scattering of neutrons with the initial energy E 0 =4.65 MeV on the spectrometer according to the time of flight is studied in polycrystalline beryllium. The measurements are made for the scattering angles THETA=15, 30, 45, 60, 75 and 90 deg at 293 K. The phonon spectrum of beryllium, i-e. g(w) is reestablished from the experimental data. The data obtained are compared with the data of model calculations. It is pointed out that the phonon spectrum of beryllium has a bit excessive state density in the energy range from 10 to 30 MeV. It is caused by the insufficient statistical accuracy of the experiment at low energy transfer

  7. Spectrographic determination of impurities in beryllium oxide

    International Nuclear Information System (INIS)

    Paula Reino, L.C. de; Lordello, A.R.; Pereira, A.S.A.

    1986-03-01

    A method for the spectrographic determination of Al, B, Cd, Co, Cu, Cr, Fe, Mg, NaNi, Si and Zn in nuclear grade beryllium oxide has been developed. The determination of Co, Al, Na and Zn is besed upon a carrier distillation technique. Better results were obtained with 2% Ga 2 O 3 as carrier in beryllium oxide. For the elements B, Cd, Cu, Fe, Cr, Mg, Ni and Si the sample is loaded in a Scribner-Mullin shallow cup electrode, covered with graphite powder and excited in DC arc. The relative standard deviation values for different elements are in the range of 10 to 20%. The method fulfills requirements of precision and sensitivity for specification analysis of nuclear grade beryllium oxide.(Author) [pt

  8. Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.

    Science.gov (United States)

    Bertram, Lars; Lange, Christoph; Mullin, Kristina; Parkinson, Michele; Hsiao, Monica; Hogan, Meghan F; Schjeide, Brit M M; Hooli, Basavaraj; Divito, Jason; Ionita, Iuliana; Jiang, Hongyu; Laird, Nan; Moscarillo, Thomas; Ohlsen, Kari L; Elliott, Kathryn; Wang, Xin; Hu-Lince, Diane; Ryder, Marie; Murphy, Amy; Wagner, Steven L; Blacker, Deborah; Becker, K David; Tanzi, Rudolph E

    2008-11-01

    Alzheimer's disease (AD) is a genetically complex and heterogeneous disorder. To date four genes have been established to either cause early-onset autosomal-dominant AD (APP, PSEN1, and PSEN2(1-4)) or to increase susceptibility for late-onset AD (APOE5). However, the heritability of late-onset AD is as high as 80%, (6) and much of the phenotypic variance remains unexplained to date. We performed a genome-wide association (GWA) analysis using 484,522 single-nucleotide polymorphisms (SNPs) on a large (1,376 samples from 410 families) sample of AD families of self-reported European descent. We identified five SNPs showing either significant or marginally significant genome-wide association with a multivariate phenotype combining affection status and onset age. One of these signals (p = 5.7 x 10(-14)) was elicited by SNP rs4420638 and probably reflects APOE-epsilon4, which maps 11 kb proximal (r2 = 0.78). The other four signals were tested in three additional independent AD family samples composed of nearly 2700 individuals from almost 900 families. Two of these SNPs showed significant association in the replication samples (combined p values 0.007 and 0.00002). The SNP (rs11159647, on chromosome 14q31) with the strongest association signal also showed evidence of association with the same allele in GWA data generated in an independent sample of approximately 1,400 AD cases and controls (p = 0.04). Although the precise identity of the underlying locus(i) remains elusive, our study provides compelling evidence for the existence of at least one previously undescribed AD gene that, like APOE-epsilon4, primarily acts as a modifier of onset age.

  9. Longevity of animals under reactive oxygen species stress and disease susceptibility due to global warming

    Science.gov (United States)

    Paital, Biswaranjan; Panda, Sumana Kumari; Hati, Akshaya Kumar; Mohanty, Bobllina; Mohapatra, Manoj Kumar; Kanungo, Shyama; Chainy, Gagan Bihari Nityananda

    2016-01-01

    The world is projected to experience an approximate doubling of atmospheric CO2 concentration in the next decades. Rise in atmospheric CO2 level as one of the most important reasons is expected to contribute to raise the mean global temperature 1.4 °C-5.8 °C by that time. A survey from 128 countries speculates that global warming is primarily due to increase in atmospheric CO2 level that is produced mainly by anthropogenic activities. Exposure of animals to high environmental temperatures is mostly accompanied by unwanted acceleration of certain biochemical pathways in their cells. One of such examples is augmentation in generation of reactive oxygen species (ROS) and subsequent increase in oxidation of lipids, proteins and nucleic acids by ROS. Increase in oxidation of biomolecules leads to a state called as oxidative stress (OS). Finally, the increase in OS condition induces abnormality in physiology of animals under elevated temperature. Exposure of animals to rise in habitat temperature is found to boost the metabolism of animals and a very strong and positive correlation exists between metabolism and levels of ROS and OS. Continuous induction of OS is negatively correlated with survivability and longevity and positively correlated with ageing in animals. Thus, it can be predicted that continuous exposure of animals to acute or gradual rise in habitat temperature due to global warming may induce OS, reduced survivability and longevity in animals in general and poikilotherms in particular. A positive correlation between metabolism and temperature in general and altered O2 consumption at elevated temperature in particular could also increase the risk of experiencing OS in homeotherms. Effects of global warming on longevity of animals through increased risk of protein misfolding and disease susceptibility due to OS as the cause or effects or both also cannot be ignored. Therefore, understanding the physiological impacts of global warming in relation to

  10. Longevity of animals under reactive oxygen species stress and disease susceptibility due to global warming.

    Science.gov (United States)

    Paital, Biswaranjan; Panda, Sumana Kumari; Hati, Akshaya Kumar; Mohanty, Bobllina; Mohapatra, Manoj Kumar; Kanungo, Shyama; Chainy, Gagan Bihari Nityananda

    2016-02-26

    The world is projected to experience an approximate doubling of atmospheric CO2 concentration in the next decades. Rise in atmospheric CO2 level as one of the most important reasons is expected to contribute to raise the mean global temperature 1.4 °C-5.8 °C by that time. A survey from 128 countries speculates that global warming is primarily due to increase in atmospheric CO2 level that is produced mainly by anthropogenic activities. Exposure of animals to high environmental temperatures is mostly accompanied by unwanted acceleration of certain biochemical pathways in their cells. One of such examples is augmentation in generation of reactive oxygen species (ROS) and subsequent increase in oxidation of lipids, proteins and nucleic acids by ROS. Increase in oxidation of biomolecules leads to a state called as oxidative stress (OS). Finally, the increase in OS condition induces abnormality in physiology of animals under elevated temperature. Exposure of animals to rise in habitat temperature is found to boost the metabolism of animals and a very strong and positive correlation exists between metabolism and levels of ROS and OS. Continuous induction of OS is negatively correlated with survivability and longevity and positively correlated with ageing in animals. Thus, it can be predicted that continuous exposure of animals to acute or gradual rise in habitat temperature due to global warming may induce OS, reduced survivability and longevity in animals in general and poikilotherms in particular. A positive correlation between metabolism and temperature in general and altered O2 consumption at elevated temperature in particular could also increase the risk of experiencing OS in homeotherms. Effects of global warming on longevity of animals through increased risk of protein misfolding and disease susceptibility due to OS as the cause or effects or both also cannot be ignored. Therefore, understanding the physiological impacts of global warming in relation to

  11. Utility of susceptibility-weighted MRI in differentiating Parkinson's disease and atypical parkinsonism

    International Nuclear Information System (INIS)

    Gupta, Deepak; Saini, Jitender; Kesavadas, Chandrasekharan; Sarma, P.S.; Kishore, Asha

    2010-01-01

    Neuropathological studies report varying patterns of brain mineralization in Parkinson's diseases (PD), progressive supranuclear palsy (PSP), and Parkinson variant of multiple system atrophy (MSA-P). Susceptibility-weighted imaging (SWI) is the ideal magnetic resonance imaging (MRI) technique to detect mineralization of the brain. The purpose of this study was to test if SWI can differentiate PD, PSP, and MSA-P. Eleven patients with PD, 12 with PSP, 12 with MSA-P, and 11 healthy controls underwent SWI of the brain. Hypointensity of putamen, red nucleus, substantia nigra, and dentate nucleus in all groups were measured using an objective grading scale and scored from 0 to 3. In PSP, hypointensity score of red nucleus was higher than that in MSA-P (p = 0.001) and PD (p = 0.001), and a score of ≥2 differentiated the PSP group from the PD and MSA-P groups. Putaminal hypointensity score was higher in PSP when compared to that in PD (p = 0.003), and a score of ≥2 differentiated PSP from PD groups. SWI hypointensity scores of red nucleus and putamen had an excellent intrarater and interrater correlation. Substantia nigra hypointensity score of the PSP group was higher than that of the MSA-P (p = 0.004) and PD (p = 0.006) groups, but the scores had only a moderate intrarater and interrater correlation. SWI shows different patterns of brain mineralization in clinically diagnosed groups of PD, PSP, and MSA-P and may be considered as an additional MR protocol to help differentiate these conditions. (orig.)

  12. Admixture mapping of end stage kidney disease genetic susceptibility using estimated mutual information ancestry informative markers

    Directory of Open Access Journals (Sweden)

    Geiger Dan

    2010-10-01

    Full Text Available Abstract Background The question of a genetic contribution to the higher prevalence and incidence of end stage kidney disease (ESKD among African Americans (AA remained unresolved, until recent findings using admixture mapping pointed to the association of a genomic locus on chromosome 22 with this disease phenotype. In the current study we utilize this example to demonstrate the utility of applying a multi-step admixture mapping approach. Methods A multi-step case only admixture mapping study, consisted of the following steps was designed: 1 Assembly of the sample dataset (ESKD AA; 2 Design of the estimated mutual information ancestry informative markers (n = 2016 screening panel 3; Genotyping the sample set whose size was determined by a power analysis (n = 576 appropriate for the initial screening panel; 4 Inference of local ancestry for each individual and identification of regions with increased AA ancestry using two different ancestry inference statistical approaches; 5 Enrichment of the initial screening panel; 6 Power analysis of the enriched panel 7 Genotyping of additional samples. 8 Re-analysis of the genotyping results to identify a genetic risk locus. Results The initial screening phase yielded a significant peak using the ADMIXMAP ancestry inference program applying case only statistics. Subgroup analysis of 299 ESKD patients with no history of diabetes yielded peaks using both the ANCESTRYMAP and ADMIXMAP ancestry inference programs. The significant peak was found on chromosome 22. Genotyping of additional ancestry informative markers on chromosome 22 that took into account linkage disequilibrium in the ancestral populations, and the addition of samples increased the statistical significance of the finding. Conclusions A multi-step admixture mapping analysis of AA ESKD patients replicated the finding of a candidate risk locus on chromosome 22, contributing to the heightened susceptibility of African Americans to develop non

  13. Is nutrient intake a gender-specific cause for enhanced susceptibility to alcohol-induced liver disease in women?

    DEFF Research Database (Denmark)

    Wagnerberger, S.; Schäfer, C.; Schwarz, E.

    2008-01-01

    AIM: Women have a higher susceptibility to alcohol-induced liver disease (ALD) than men. Gender-related differences in food preference were described in previous studies for several populations, but not in alcohol abusers. As certain micronutrients are reported to take influence on the development......, the data of calculated daily macro- and micronutrient intake do not suggest any explicit influence of gender-specific nutrition in the development of ALD....

  14. Systematic detection of positive selection in the human-pathogen interactome and lasting effects on infectious disease susceptibility.

    Directory of Open Access Journals (Sweden)

    Erik Corona

    Full Text Available Infectious disease has shaped the natural genetic diversity of humans throughout the world. A new approach to capture positive selection driven by pathogens would provide information regarding pathogen exposure in distinct human populations and the constantly evolving arms race between host and disease-causing agents. We created a human pathogen interaction database and used the integrated haplotype score (iHS to detect recent positive selection in genes that interact with proteins from 26 different pathogens. We used the Human Genome Diversity Panel to identify specific populations harboring pathogen-interacting genes that have undergone positive selection. We found that human genes that interact with 9 pathogen species show evidence of recent positive selection. These pathogens are Yersenia pestis, human immunodeficiency virus (HIV 1, Zaire ebolavirus, Francisella tularensis, dengue virus, human respiratory syncytial virus, measles virus, Rubella virus, and Bacillus anthracis. For HIV-1, GWAS demonstrate that some naturally selected variants in the host-pathogen protein interaction networks continue to have functional consequences for susceptibility to these pathogens. We show that selected human genes were enriched for HIV susceptibility variants (identified through GWAS, providing further support for the hypothesis that ancient humans were exposed to lentivirus pandemics. Human genes in the Italian, Miao, and Biaka Pygmy populations that interact with Y. pestis show significant signs of selection. These results reveal some of the genetic footprints created by pathogens in the human genome that may have left lasting marks on susceptibility to infectious disease.

  15. Epizootic to enzootic transition of a fungal disease in tropical Andean frogs: Are surviving species still susceptible?

    Directory of Open Access Journals (Sweden)

    Alessandro Catenazzi

    Full Text Available The fungal pathogen Batrachochytrium dendrobatidis (Bd, which causes the disease chytridiomycosis, has been linked to catastrophic amphibian declines throughout the world. Amphibians differ in their vulnerability to chytridiomycosis; some species experience epizootics followed by collapse while others exhibit stable host/pathogen dynamics where most amphibian hosts survive in the presence of Bd (e.g., in the enzootic state. Little is known about the factors that drive the transition between the two disease states within a community, or whether populations of species that survived the initial epizootic are stable, yet this information is essential for conservation and theory. Our study focuses on a diverse Peruvian amphibian community that experienced a Bd-caused collapse. We explore host/Bd dynamics of eight surviving species a decade after the mass extinction by using population level disease metrics and Bd-susceptibility trials. We found that three of the eight species continue to be susceptible to Bd, and that their populations are declining. Only one species is growing in numbers and it was non-susceptible in our trials. Our study suggests that some species remain vulnerable to Bd and exhibit ongoing population declines in enzootic systems where Bd-host dynamics are assumed to be stable.

  16. Preliminary results for explosion bonding of beryllium to copper

    International Nuclear Information System (INIS)

    Butler, D.J.; Dombrowski, D.E.

    1995-01-01

    This program was undertaken to determine if explosive bonding is a viable technique for joining beryllium to copper substrates. The effort was a cursory attempt at trying to solve some of the problems associated with explosive bonding beryllium and should not be considered a comprehensive research effort. There are two issues that this program addressed. Can beryllium be explosive bonded to copper substrates and can the bonding take place without shattering the beryllium? Thirteen different explosive bonding iterations were completed using various thicknesses of beryllium that were manufactured with three different techniques

  17. Genetic analysis of infectious diseases: Estimating gene effects for susceptibility and infectivity

    NARCIS (Netherlands)

    Anche, M.T.; Bijma, P.; Jong, de M.C.M.

    2015-01-01

    Background: Genetic selection of livestock against infectious diseases can complement existing interventions to control infectious diseases. Most genetic approaches that aim at reducing disease prevalence assume that individual disease status (infected/not-infected) is solely a function of its

  18. Association of vitamin D receptor BsmI (rs1544410) gene polymorphism with the chronic kidney disease susceptibility.

    Science.gov (United States)

    Zhou, Tian-Biao; Jiang, Zong-Pei; Huang, Miao-Fang

    2015-02-01

    Association of vitamin D receptor (VDR) BsmI (rs1544410) gene polymorphism with the chronic kidney disease (CKD) susceptibility from the published reports are still conflicting. This meta-analysis was performed to evaluate the relationship between VDR BsmI (rs1544410) gene polymorphism and the risk of CKD. The association studies were identified from PubMed, Cochrane Library and China Biological Medicine Database on 1 March 2014, and eligible investigations were included and synthesized using meta-analysis method. Nine reports were recruited into this meta-analysis for the association of VDR BsmI gene polymorphism with CKD susceptibility. In this meta-analysis for overall populations, the BsmI B allele BB genotype and bb genotype were not associated with the risk of CKD (B allele: OR = 1.12, 95% CI: 0.88-1.44, p = 0.36; BB genotype: OR = 1.15, 95% CI: 0.81-1.62, p = 0.43; bb genotype: OR = 0.86, 95% CI: 0.61-1.20, p = 0.36). Furthermore, VDR BsmI gene polymorphism was not associated with CKD susceptibility in Asians and in Caucasians. In conclusion, the BsmI gene polymorphism was not associated with CKD susceptibility in overall populations, in Asians and in Caucasians. However, more studies should be conducted to confirm it.

  19. Acoustic investigation of magnetic susceptibility of liquid metals

    International Nuclear Information System (INIS)

    Tekuchev, V.V.; Barashkov, B.I.; Ivanova, I.V.; Rygalov, L.N.

    2008-01-01

    An acoustic method is proposed for studying the specific magnetic susceptibility of metal melts. For the first time, magnetic susceptibilities of francium, beryllium, scandium, yttrium, vanadium, niobium, rhenium, palladium, and platinum in the liquid phase at their melting points, as well as temperature dependences of magnetic susceptibilities of cesium, yttrium, and vanadium over the temperature range from melting points to boiling points have been estimated [ru

  20. Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility

    NARCIS (Netherlands)

    Chang, Chia-Jung; Kuo, Ho-Chang; Chang, Jeng-Sheng; Lee, Jong-Keuk; Tsai, Fuu-Jen; Khor, Chiea Chuen; Chang, Li-Ching; Chen, Shih-Ping; Ko, Tai-Ming; Liu, Yi-Min; Chen, Ying-Ju; Hong, Young Mi; Jang, Gi Young; Hibberd, Martin L.; Kuijpers, Taco; Burgner, David; Levin, Michael; Burns, Jane C.; Davila, Sonia; Chen, Yuan-Tsong; Chen, Chien-Hsiun; Wu, Jer-Yuarn; Lee, Yi-Ching; Liang, Chi-Di; Hwang, Kao-Pin; Chang, Luan-Yin; Huang, Li-Min; Chen, Ming-Ren; Chi, Hsin; Huang, Fu-Yuan; Chiu, Nan-Chang; Lee, Meng-Luen; Huang, Yhu-Chering; Hwang, Betau; Lee, Pi-Chang; Yoo, Jeong-Jin; Park, In-Sook; Hong, Soo-Jong; Kim, Kwi-Joo; Kim, Jae-Jung; Sohn, Saejung; Young Jang, Gi; Ha, Kee-Soo; Nam, Hyo-Kyoung; Byeon, Jung-Hye; Yun, Sin Weon; Han, Myung Ki; Kuipers, Irene M.; Ottenkamp, Jaap J.; Biezeveld, Maarten

    2013-01-01

    The BLK and CD40 loci have been associated with Kawasaki disease (KD) in two genome-wide association studies (GWAS) conducted in a Taiwanese population of Han Chinese ancestry (Taiwanese) and in Japanese cohorts. Here we build on these findings with replication studies of the BLK and CD40 loci in

  1. The effect of nitrogen fertilization and irradiation on barley susceptibility to net blotch disease

    International Nuclear Information System (INIS)

    Arabi, M.I.E.; Al-safadi, B.; Charbaji, T.

    2000-11-01

    Isolates of Drechslera teres f. sp. teres that cause net blotch symptoms on barley were collected from fields in different regions of Syria. there virulence spectra were determined using 11 barley cultivars. Cultivars exhibited a continuos range of response from very susceptible to moderately resistant. Isolate Raqa 13 had the highest mean virulence, then Halap 2, whereas ICARDA 3 was the lowest virulent. The effect of three concentrations (1000, 1500, 2000 ppm) of nitrogen (Urea 45%) fertilizer, and two doses of gamma ray (10 and 20 Gy), on susceptibility to infection by Drechslera teres were studied. Two barley cultivars (Thibaut and Furia) were used in this study. Results showed that 1000 ppm (N) and 15 Gy dose treatment had a positive effect on decreasing the susceptibility. (author)

  2. Antagonism between phytohormone signalling underlies the variation in disease susceptibility of tomato plants under elevated CO2

    Science.gov (United States)

    Zhang, Shuai; Li, Xin; Sun, Zenghui; Shao, Shujun; Hu, Lingfei; Ye, Meng; Zhou, Yanhong; Xia, Xiaojian; Yu, Jingquan; Shi, Kai

    2015-01-01

    Increasing CO2 concentrations ([CO2]) have the potential to disrupt plant–pathogen interactions in natural and agricultural ecosystems, but the research in this area has often produced conflicting results. Variations in phytohormone salicylic acid (SA) and jasmonic acid (JA) signalling could be associated with variations in the responses of pathogens to plants grown under elevated [CO2]. In this study, interactions between tomato plants and three pathogens with different infection strategies were compared. Elevated [CO2] generally favoured SA biosynthesis and signalling but repressed the JA pathway. The exposure of plants to elevated [CO2] revealed a lower incidence and severity of disease caused by tobacco mosaic virus (TMV) and by Pseudomonas syringae, whereas plant susceptibility to necrotrophic Botrytis cinerea increased. The elevated [CO2]-induced and basal resistance to TMV and P. syringae were completely abolished in plants in which the SA signalling pathway nonexpressor of pathogenesis-related genes 1 (NPR1) had been silenced or in transgenic plants defective in SA biosynthesis. In contrast, under both ambient and elevated [CO2], the susceptibility to B. cinerea highly increased in plants in which the JA signalling pathway proteinase inhibitors (PI) gene had been silenced or in a mutant affected in JA biosynthesis. However, plants affected in SA signalling remained less susceptible to this disease. These findings highlight the modulated antagonistic relationship between SA and JA that contributes to the variation in disease susceptibility under elevated [CO2]. This information will be critical for investigating how elevated CO2 may affect plant defence and the dynamics between plants and pathogens in both agricultural and natural ecosystems. PMID:25657213

  3. Linking susceptibility to infectious diseases to immune system abnormalities among HIV Exposed Uninfected Infants

    Directory of Open Access Journals (Sweden)

    Candice Ruck

    2016-08-01

    Full Text Available HIV exposed, uninfected (HEU infants have been shown to have an increase in overall mortality from infectious causes when compared to HIV unexposed, uninfected (HU infants. This is the case in both resource-rich and resource-limited settings. We explore here the concept that specific types of infectious diseases that are more common among HEU infants could provide clues as to the potential underlying immunological abnormalities. The most commonly reported infections in HEU vs. HU are caused by encapsulated bacteria; this suggests the existence of a less effective humoral (antibody, complement immune response. Decreased transplacental transfer of protective maternal antibodies has been seen consistently among HEU newborns, suggesting that this may indeed be one of the key drivers of their susceptibility to infections with encapsulated bacteria. Reassuringly, HEU humoral response to vaccination appears to be well conserved. While there appears to be an increase in overall incidence of acute viral infections, no specific pattern of acute viral infections has emerged; and while there is evidence of increased chronic viral infection from perinatal transmission of hepatitis C and CMV, no data exist to suggest an increase in adverse outcomes. Thus, no firm conclusions about anti-viral effector mechanisms can be drawn. However, the most unusual of reported infections among the HEU have been opportunistic infections, suggesting the possibility of underlying defects in CD4 helper and overall immune regulatory function. This may relate to the observation that the immunological profile of HEUs indicate more activated T cell profile as well as a more inflammatory innate immune response. However, both of these observations appear temporary, marked in early infancy, but no longer evident later in life. The causes of these changes in early life immune profile are likely multifactorial and may be related to in utero exposure to HIV, but also to increased

  4. Status of beryllium development for fusion applications

    International Nuclear Information System (INIS)

    Billone, M.C.; Donne, M.D.; Macaulay-Newcombe, R.G.

    1994-05-01

    Beryllium is a leading candidate material for the neutron multiplier of tritium breeding blankets and the plasma facing component of first wall and divertor systems. Depending on the application, the fabrication methods proposed include hot-pressing, hot-isostatic-pressing, cold isostatic pressing/sintering, rotary electrode processing and plasma spraying. Product forms include blocks, tubes, pebbles, tiles and coatings. While, in general, beryllium is not a leading structural material candidate, its mechanical performance, as well its performance with regard to sputtering, heat transport, tritium retention/release, helium-induced swelling and chemical compatibility, is an important consideration in first-wall/blanket design. Differential expansion within the beryllium causes internal stresses which may result in cracking, thereby affecting the heat transport and barrier performance of the material. Overall deformation can result in loading of neighboring structural material. Thus, in assessing the performance of beryllium for fusion applications, it is important to have a good database in all of these performance areas, as well as a set of properties correlations and models for the purpose of interpolation/extrapolation

  5. Method of beryllium implantation in germanium substrate

    International Nuclear Information System (INIS)

    Kagawa, S.; Baba, Y.; Kaneda, T.; Shirai, T.

    1983-01-01

    A semiconductor device is disclosed, as well as a method for manufacturing it in which ions of beryllium are implanted into a germanium substrate to form a layer containing p-type impurity material. There after the substrate is heated at a temperature in the range of 400 0 C. to 700 0 C. to diffuse the beryllium ions into the substrate so that the concentration of beryllium at the surface of the impurity layer is in the order of 10 17 cm- 3 or more. In one embodiment, a p-type channel stopper is formed locally in a p-type germanium substrate and an n-type active layer is formed in a region surrounded by, and isolated from, the channel stopper region. In another embodiment, a relatively shallow p-type active layer is formed at one part of an n-type germanium substrate and p-type guard ring regions are formed surrounding, and partly overlapping said p-type active layer. In a further embodiment, a p-type island region is formed at one part of an n-type germanium substrate, and an n-type region is formed within said p-type region. In these embodiments, the p-type channel stopper region, p-type guard ring regions and the p-type island region are all formed by implanting ions of beryllium into the germanium substrate

  6. ESR investigations of gamma irradiated beryllium ceramics

    International Nuclear Information System (INIS)

    Ryabikin, Yu.A.; Polyakov, A.I.; Petukhov, Yu.V.; Bitenbaev, M.I.; Zashkvara, O.V.

    2000-01-01

    In this report the result of ESR- investigation of kinetics of radiation paramagnetic defects accumulated in beryllium ceramics under gamma irradiation are presented. The data on quantum yield and destruction rate constants of these defects under ionizing irradiation are obtained. (orig.)

  7. ESR investigations of gamma irradiated beryllium ceramics

    Energy Technology Data Exchange (ETDEWEB)

    Ryabikin, Yu A; Polyakov, A I; Petukhov, Yu V; Bitenbaev, M I; Zashkvara, O V [Physical-Technical Inst., Almaty (Kazakhstan)

    2000-04-01

    In this report the result of ESR- investigation of kinetics of radiation paramagnetic defects accumulated in beryllium ceramics under gamma irradiation are presented. The data on quantum yield and destruction rate constants of these defects under ionizing irradiation are obtained. (orig.)

  8. Beryllium, a material of great promise

    International Nuclear Information System (INIS)

    Le Fauconnier, J.P.; Nomine, A.M.

    1992-01-01

    Beryllium is one of the lightest metals. It also owns an outstanding combination of physical, mechanical and nuclear properties which gives it a favorable position, compared to more usual materials, in various fields of applications. Constant technological advancements in the elaboration and working up have induced a significant improvement of its ductility and a reduction of the production costs. (Author). 12 refs., 7 figs

  9. Thermophysical properties of solid and liquid beryllium

    International Nuclear Information System (INIS)

    Boivineau, M.; Arles, L.; Vermeulen, J.M.; Thevenin, Th.

    1993-01-01

    A submillisecond resistive heating technique under high pressure (0.12 GPa) has been used to measure selected thermophysical properties of both solid and liquid beryllium. Data have been obtained between room temperature and 2900 K. Results on enthalpy, volume expansion, electrical resistivity, and sound velocity measurements are presented

  10. Critical parameters controlling irradiation swelling in beryllium

    International Nuclear Information System (INIS)

    Dubinko, V.I.

    1995-01-01

    Radiation effects in beryllium can hardly be explained within a framework of the conventional theory based on the bias concept due to elastic interaction difference (EID) between vacancies and self-interstitial atoms (SIAs) since beryllium belongs to hexagonal close-packed metals where diffusion has been shown to be anisotropic. Diffusional anisotropy difference (DAD) between point defects changes the cavity bias for their absorption and leads to dependence of the dislocation bias on the distribution of dislocations over crystallographic directions. On the other hand, the elastic interaction between point defects and cavities gives rise to the size and gas pressure dependencies of the cavity bias, resulting in new critical quantities for bubble-void transition effects at low temperature irradiation. In the present paper, we develop the concept of the critical parameters controlling irradiation swelling with account of both DAD and EID, and take care of thermal effects as well since they are of major importance for beryllium which has an anomalously low self-diffusion activation energy. Experimental data on beryllium swelling are analyzed on the basis of the present theory. (orig.)

  11. Susceptibility of Marmosets (Callithrix jacchus) to Monkeypox Virus: A Low Dose Prospective Model for Monkeypox and Smallpox Disease.

    Science.gov (United States)

    Mucker, Eric M; Chapman, Jennifer; Huzella, Louis M; Huggins, John W; Shamblin, Joshua; Robinson, Camenzind G; Hensley, Lisa E

    2015-01-01

    Although current nonhuman primate models of monkeypox and smallpox diseases provide some insight into disease pathogenesis, they require a high titer inoculum, use an unnatural route of infection, and/or do not accurately represent the entire disease course. This is a concern when developing smallpox and/or monkeypox countermeasures or trying to understand host pathogen relationships. In our studies, we altered half of the test system by using a New World nonhuman primate host, the common marmoset. Based on dose finding studies, we found that marmosets are susceptible to monkeypox virus infection, produce a high viremia, and have pathological features consistent with smallpox and monkeypox in humans. The low dose (48 plaque forming units) required to elicit a uniformly lethal disease and the extended incubation (preclinical signs) are unique features among nonhuman primate models utilizing monkeypox virus. The uniform lethality, hemorrhagic rash, high viremia, decrease in platelets, pathology, and abbreviated acute phase are reflective of early-type hemorrhagic smallpox.

  12. Assessment of the beryllium lymphocyte proliferation test using statistical process control.

    Science.gov (United States)

    Cher, Daniel J; Deubner, David C; Kelsh, Michael A; Chapman, Pamela S; Ray, Rose M

    2006-10-01

    Despite more than 20 years of surveillance and epidemiologic studies using the beryllium blood lymphocyte proliferation test (BeBLPT) as a measure of beryllium sensitization (BeS) and as an aid for diagnosing subclinical chronic beryllium disease (CBD), improvements in specific understanding of the inhalation toxicology of CBD have been limited. Although epidemiologic data suggest that BeS and CBD risks vary by process/work activity, it has proven difficult to reach specific conclusions regarding the dose-response relationship between workplace beryllium exposure and BeS or subclinical CBD. One possible reason for this uncertainty could be misclassification of BeS resulting from variation in BeBLPT testing performance. The reliability of the BeBLPT, a biological assay that measures beryllium sensitization, is unknown. To assess the performance of four laboratories that conducted this test, we used data from a medical surveillance program that offered testing for beryllium sensitization with the BeBLPT. The study population was workers exposed to beryllium at various facilities over a 10-year period (1992-2001). Workers with abnormal results were offered diagnostic workups for CBD. Our analyses used a standard statistical technique, statistical process control (SPC), to evaluate test reliability. The study design involved a repeated measures analysis of BeBLPT results generated from the company-wide, longitudinal testing. Analytical methods included use of (1) statistical process control charts that examined temporal patterns of variation for the stimulation index, a measure of cell reactivity to beryllium; (2) correlation analysis that compared prior perceptions of BeBLPT instability to the statistical measures of test variation; and (3) assessment of the variation in the proportion of missing test results and how time periods with more missing data influenced SPC findings. During the period of this study, all laboratories displayed variation in test results that

  13. Status of beryllium development for fusion applications

    International Nuclear Information System (INIS)

    Billone, M.C.; Macaulay-Newcombe, R.G.

    1995-01-01

    Beryllium is a leading candidate material for the neutron multiplier of tritium breeding blankets and the plasma-facing component of first-wall and divertor systems. Depending on the application, the fabrication methods proposed include hot-pressing, hot-isostatic-pressing, cold-isostatic-pressing/sintering, rotary electrode processing and plasma spraying. Product forms include blocks, tubes, pebbles, tiles and coatings. While, in general, beryllium is not a leading structural material candidate, its mechanical performance, as well as its performance with regard to sputtering, heat transport, tritium retention/release, helium-induced swelling and chemical compatibility, is an important consideration in first-wall/blanket design. Differential expansion within the beryllium causes internal stresses which may result in cracking, thereby affecting the heat transport and barrier performance of the material. Overall deformation can result in loading of neighboring structural material. Thus, in assessing the performance of beryllium for fusion applications, it is important to have a good database in all of these performance areas, as well as a set of properties correlations and models for the purpose of interpolation/extrapolation.In this current work, the range of anticipated fusion operating conditions is reviewed. The thermal, mechanical, chemical compatibility, tritium retention/release, and helium retention/swelling databases are then reviewed for fabrication methods and fusion operating conditions of interest. Properties correlations and uncertainty ranges are also discussed. In the case of the more complex phenomena of tritium retention/release and helium-induced swelling, fundamental mechanisms and models are reviewed in more detail. Areas in which additional data are needed are highlighted, along with some trends which suggest ways of optimizing the performance of beryllium for fusion applications. (orig.)

  14. Terpene Profile, Leaf Anatomy, and Enzyme Activity of Resistant and Susceptible Cocoa Clonesto Vascular Streak Dieback Disease

    Directory of Open Access Journals (Sweden)

    Adi Prawoto

    2014-10-01

    Full Text Available Vascular-streak dieback (VSD, Oncobasidium theobromae is the most prevalent disease of Theobroma cacao L. in Indonesia. This study aims to analyze resistance mechanism to VSD based on terpene profile, leaf anatomy, chitinase, and peroxidase study. Resistant clones of Sulawesi 1 and Sca 6 and susceptible clones of ICS 60 and TSH 858 were used for terpene profile, leaf anatomy analysis, chitinase, peroxides, polyphenol, lignin, and cellulose analysis. Those clones and KEE 2, KKM 22 and ICS 13 were used for peroxides analysis. For trichome study, the resistant clones of Sulawesi 1, Sca 6, KEE 2, and KKM 22, and susceptible clones of ICS 60 and TSH 858 were used. GCMS analysis showed that chromatogram pattern of resistant and susceptible groups were quite similar, but resistant clones contained 22% more components than the susceptible ones. Resistant clones contained groups of pinene, decane, myrcene, and octadecanoic acid, while those substances on usceptible clones were absent. Trichome was thicker on younger leaf, and its density on the basal was higher than that on the middle and tip leaf parts. Trichome density of resistant clone was not always thicker than that of susceptible ones. On resistant clones, stomatal density was lower and width of stomate pits was narrower, while thickness of epidermis layer and pallisade parenchym were higher. Polyphenol content of resistant clones were higher but lignin and cellulose of both groups were similar. Chitinase activity which has a role in hydrolysis of mycelia cell wall was higher on the resistant clones, but peroxides which has a role in polymeration of lignin biosynthesis was similar between both groups. It is concluded that groups of terpene pinene, decane, myrcene, and octadecanoic acid, thickness of leaf epidermis, density and width of stomata pit, and chitinase activity plays important role in cocoa resistance to VSD. Key words: Theobroma cacaoL., clone, vascular-streak dieback, resistance, leaf

  15. Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

    DEFF Research Database (Denmark)

    Sud, Amit; Thomsen, Hauke; Law, Philip J.

    2017-01-01

    Several susceptibility loci for classical Hodgkin lymphoma have been reported. However, much of the heritable risk is unknown. Here, we perform a meta-analysis of two existing genome-wide association studies, a new genome-wide association study, and replication totalling 5,314 cases and 16,749 co...

  16. Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

    NARCIS (Netherlands)

    Sud, A. (Amit); Thomsen, H. (Hauke); Law, P.J. (Philip J.); A. Försti (Asta); Filho, M.I.D.S. (Miguel Inacio Da Silva); Holroyd, A. (Amy); P. Broderick (Peter); Orlando, G. (Giulia); Lenive, O. (Oleg); Wright, L. (Lauren); R. Cooke (Rosie); D.F. Easton (Douglas); P.D.P. Pharoah (Paul); A.M. Dunning (Alison); J. Peto (Julian); F. Canzian (Federico); Eeles, R. (Rosalind); Z. Kote-Jarai; K.R. Muir (K.); Pashayan, N. (Nora); B.E. Henderson (Brian); C.A. Haiman (Christopher); S. Benlloch (Sara); F.R. Schumacher (Fredrick R); Olama, A.A.A. (Ali Amin Al); S.I. Berndt (Sonja); G. Conti (Giario); F. Wiklund (Fredrik); S.J. Chanock (Stephen); Stevens, V.L. (Victoria L.); C.M. Tangen (Catherine M.); Batra, J. (Jyotsna); Clements, J. (Judith); H. Grönberg (Henrik); Schleutker, J. (Johanna); D. Albanes (Demetrius); Weinstein, S. (Stephanie); K. Wolk (Kerstin); West, C. (Catharine); Mucci, L. (Lorelei); Cancel-Tassin, G. (Géraldine); Koutros, S. (Stella); Sorensen, K.D. (Karina Dalsgaard); L. Maehle; D. Neal (David); S.P.L. Travis (Simon); Hamilton, R.J. (Robert J.); S.A. Ingles (Sue); B.S. Rosenstein (Barry S.); Lu, Y.-J. (Yong-Jie); Giles, G.G. (Graham G.); A. Kibel (Adam); Vega, A. (Ana); M. Kogevinas (Manolis); Penney, K.L. (Kathryn L.); Park, J.Y. (Jong Y.); Stanford, J.L. (Janet L.); C. Cybulski (Cezary); B.G. Nordestgaard (Børge); Brenner, H. (Hermann); Maier, C. (Christiane); Kim, J. (Jeri); E.M. John (Esther); P.J. Teixeira; Neuhausen, S.L. (Susan L.); De Ruyck, K. (Kim); Razack, A. (Azad); Newcomb, L.F. (Lisa F.); Lessel, D. (Davor); Kaneva, R. (Radka); N. Usmani (Nawaid); F. Claessens; Townsend, P.A. (Paul A.); Dominguez, M.G. (Manuela Gago); Roobol, M.J. (Monique J.); F. Menegaux (Florence); P. Hoffmann (Per); M.M. Nöthen (Markus); K.-H. JöCkel (Karl-Heinz); Strandmann, E.P.V. (Elke Pogge Von); Lightfoot, T. (Tracy); Kane, E. (Eleanor); Roman, E. (Eve); Lake, A. (Annette); Montgomery, D. (Dorothy); Jarrett, R.F. (Ruth F.); A.J. Swerdlow (Anthony ); A. Engert (Andreas); N. Orr (Nick); K. Hemminki (Kari); Houlston, R.S. (Richard S.)

    2017-01-01

    textabstractSeveral susceptibility loci for classical Hodgkin lymphoma have been reported. However, much of the heritable risk is unknown. Here, we perform a meta-analysis of two existing genome-wide association studies, a new genome-wide association study, and replication totalling 5,314 cases and

  17. Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.

    Directory of Open Access Journals (Sweden)

    Cathy J Jensen

    Full Text Available Recent association studies in multiple sclerosis (MS have identified and replicated several single nucleotide polymorphism (SNP susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease severity incorporating disability, age of onset, cognition and brain atrophy. We observed trends towards association between the RPL5 risk SNP and time between first demyelinating event and relapse, and between the CD40 risk SNP and symbol digit test score. No associations were significant after correction for multiple testing. We found no evidence for the hypothesis that these new MS disease risk-associated SNPs influence disease severity.

  18. Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.

    Science.gov (United States)

    Baillie, J Kenneth; Bretherick, Andrew; Haley, Christopher S; Clohisey, Sara; Gray, Alan; Neyton, Lucile P A; Barrett, Jeffrey; Stahl, Eli A; Tenesa, Albert; Andersson, Robin; Brown, J Ben; Faulkner, Geoffrey J; Lizio, Marina; Schaefer, Ulf; Daub, Carsten; Itoh, Masayoshi; Kondo, Naoto; Lassmann, Timo; Kawai, Jun; Mole, Damian; Bajic, Vladimir B; Heutink, Peter; Rehli, Michael; Kawaji, Hideya; Sandelin, Albin; Suzuki, Harukazu; Satsangi, Jack; Wells, Christine A; Hacohen, Nir; Freeman, Thomas C; Hayashizaki, Yoshihide; Carninci, Piero; Forrest, Alistair R R; Hume, David A

    2018-03-01

    Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns of transcriptional activity. Accordingly, shared transcriptional activity (coexpression) may help prioritise loci associated with a given trait, and help to identify underlying biological processes. Using cap analysis of gene expression (CAGE) profiles of promoter- and enhancer-derived RNAs across 1824 human samples, we have analysed coexpression of RNAs originating from trait-associated regulatory regions using a novel quantitative method (network density analysis; NDA). For most traits studied, phenotype-associated variants in regulatory regions were linked to tightly-coexpressed networks that are likely to share important functional characteristics. Coexpression provides a new signal, independent of phenotype association, to enable fine mapping of causative variants. The NDA coexpression approach identifies new genetic variants associated with specific traits, including an association between the regulation of the OCT1 cation transporter and genetic variants underlying circulating cholesterol levels. NDA strongly implicates particular cell types and tissues in disease pathogenesis. For example, distinct groupings of disease-associated regulatory regions implicate two distinct biological processes in the pathogenesis of ulcerative colitis; a further two separate processes are implicated in Crohn's disease. Thus, our functional analysis of genetic predisposition to disease defines new distinct disease endotypes. We predict that patients with a preponderance of susceptibility variants in each group are likely to respond differently to pharmacological therapy. Together, these findings enable a deeper biological understanding of the causal basis of complex traits.

  19. Cardiovascular Disease Biomarkers Predict Susceptibility or Resistance to Lung Injury in World Trade Center Dust Exposed Firefighters

    Science.gov (United States)

    Weiden, Michael D.; Naveed, Bushra; Kwon, Sophia; Cho, Soo Jung; Comfort, Ashley L.; Prezant, David J.; Rom, William N.; Nolan, Anna

    2013-01-01

    Pulmonary vascular loss is an early feature of chronic obstructive pulmonary disease. Biomarkers of inflammation and of metabolic syndrome, predicts loss of lung function in World Trade Center Lung Injury (WTC-LI). We investigated if other cardiovascular disease (CVD) biomarkers also predicted WTC-LI. This nested case-cohort study used 801 never smoker, WTC exposed firefighters with normal pre-9/11 lung function presenting for subspecialty pulmonary evaluation (SPE) before March, 2008. A representative sub-cohort of 124/801 with serum drawn within six months of 9/11 defined CVD biomarker distribution. Post-9/11/01 FEV1 at subspecialty exam defined cases: susceptible WTC-LI cases with FEV1≤77% predicted (66/801) and resistant WTC-LI cases with FEV1≥107% (68/801). All models were adjusted for WTC exposure intensity, BMI at SPE, age at 9/11, and pre-9/11 FEV1. Susceptible WTC-LI cases had higher levels of Apo-AII, CRP, and MIP-4 with significant RRs of 3.85, 3.93, and 0.26 respectively with an area under the curve (AUC) of 0.858. Resistant WTC-LI cases had significantly higher sVCAM and lower MPO with RRs of 2.24, and 2.89 respectively; AUC 0.830. Biomarkers of CVD in serum six-month post-9/11 predicted either susceptibility or resistance to WTC-LI. These biomarkers may define pathways producing or protecting subjects from pulmonary vascular disease and associated loss of lung function after an irritant exposure. PMID:22903969

  20. Increased Tumor Necrosis Factor (TNF)-α and Its Promoter Polymorphisms Correlate with Disease Progression and Higher Susceptibility towards Vitiligo

    Science.gov (United States)

    Laddha, Naresh C.; Dwivedi, Mitesh; Begum, Rasheedunnisa

    2012-01-01

    Abstract Tumor Necrosis Factor (TNF)-α, is a paracrine inhibitor of melanocytes, which plays a critical role in the pathogenesis of several autoimmune diseases including vitiligo, as abnormal immune responses have frequently been observed in vitiligo patients. Moreover, vitiligo patients show higher lesion levels of TNF-α. Genetic polymorphisms in the promoter region of TNF-α are involved in the regulation of its expression. The present study explores TNF-α promoter polymorphisms and correlates them with TNF-α transcript and protein levels in vitiligo patients and controls of Gujarat along with its effect on disease onset and progression. PCR-RFLP technique was used for genotyping of these polymorphisms in 977 vitiligo patients and 990 controls. TNF-α transcript and protein levels were measured by Real time PCR and ELISA respectively. The genotype and allele frequencies for the investigated polymorphisms were significantly associated with vitiligo patients. The study revealed significant increase in TNF-α transcript and protein levels in vitiligo patients compared to controls. In particular, haplotypes: AATCC, AACCT, AGTCT, GATCT, GATCC and AGCCT were found to increase the TNF-α levels in vitiligo patients. Analysis of TNF-α levels based on the gender and disease progression suggests that female patients and patients with active vitiligo had higher levels of TNF-α. Also, the TNF-α levels were high in patients with generalized vitiligo as compared to localized vitiligo. Age of onset analysis of the disease suggests that the haplotypes: AACAT, AACCT, AATCC and AATCT had a profound effect in the early onset of the disease. Moreover, the analysis suggests that female patients had an early onset of vitiligo. Overall, our results suggest that TNF-α promoter polymorphisms may be genetic risk factors for susceptibility and progression of the disease. The up-regulation of TNF-α transcript and protein levels in individuals with susceptible haplotypes advocates

  1. Lack of association between miR-218 rs11134527 A>G and Kawasaki disease susceptibility.

    Science.gov (United States)

    Pi, Lei; Fu, Lanyan; Xu, Yufen; Che, Di; Deng, Qiulian; Huang, Xijing; Li, Meiai; Zhang, Li; Huang, Ping; Gu, Xiaoqiong

    2018-05-01

    Abstract Kawasaki disease (KD) is a type of disease that includes the development of a fever that lasts at least five days and involves the clinical manifestation of multicellular vasculitis. KD has become one of the most common pediatric cardiovascular diseases. Previous studies have reported that miR-218 rs11134527 A>G is associated with susceptibility to various cancer risks. However, there is a lack of evidence regarding the relationship between this polymorphism and KD risk. This study explored the correlation between the miR-218 rs11134527 A>G polymorphism and the risk of KD. We recruited 532 patients with KD and 623 controls to genotype the miR-218 rs11134527 A>G polymorphism with a TaqMan allelic discrimination assay. Our results illustrated that the miR-218 rs11134527 A>G polymorphism was not associated with KD risk. In an analysis stratified by age, sex, and coronary artery lesions, we found only that the risk of KD was significantly decreased for children older than 5 years (GG vs. AA/AG: adjusted OR=0.26, 95% CI=0.07-0.94, P =0.041). This study demonstrated that the miR-218 rs1113452 A>G polymorphism may have an age-related relationship with KD susceptibility that has not previously been revealed. ©2018 The Author(s).

  2. Using case-control designs for genome-wide screening for associations between genetic markers and disease susceptibility loci.

    Science.gov (United States)

    Yang, Q; Khoury, M J; Atkinson, M; Sun, F; Cheng, R; Flanders, W D

    1999-01-01

    We used a case-control design to scan the genome for any associations between genetic markers and disease susceptibility loci using the first two replicates of the Mycenaean population from the GAW11 (Problem 2) data. Using a case-control approach, we constructed a series of 2-by-3 tables for each allele of every marker on all six chromosomes. Odds ratios (ORs) and 95% confidence intervals (95% CI) were estimated for all alleles of every marker. We selected the one allele for which the estimated OR had the minimum p-value to plot in the graph. Among these selected ORs, we calculated 95% CI for those that had a p-value Mycenaean population, the case-control design identified allele number 1 of marker 24 on chromosome 1 to be associated with a disease susceptibility gene, OR = 2.10 (95% CI 1.66-2.62). Our approach failed to show any other significant association between case-control status and genetic markers. Stratified analysis on the environmental risk factor (E1) provided no further evidence of significant association other than allele 1 of marker 24 on chromosome 1. These data indicate the absence of linkage disequilibrium for markers flanking loci A, B, and C. Finally, we examined the effect of gene x environment (G x E) interaction for the identified allele. Our results provided no evidence of G x E interaction, but suggested that the environmental exposure alone was a risk factor for the disease.

  3. Genetic susceptibility loci, environmental exposures, and Parkinson's disease: a case-control study of gene-environment interactions.

    Science.gov (United States)

    Chung, Sun Ju; Armasu, Sebastian M; Anderson, Kari J; Biernacka, Joanna M; Lesnick, Timothy G; Rider, David N; Cunningham, Julie M; Ahlskog, J Eric; Frigerio, Roberta; Maraganore, Demetrius M

    2013-06-01

    Prior studies causally linked mutations in SNCA, MAPT, and LRRK2 genes with familial Parkinsonism. Genome-wide association studies have demonstrated association of single nucleotide polymorphisms (SNPs) in those three genes with sporadic Parkinson's disease (PD) susceptibility worldwide. Here we investigated the interactions between SNPs in those three susceptibility genes and environmental exposures (pesticides application, tobacco smoking, coffee drinking, and alcohol drinking) also associated with PD susceptibility. Pairwise interactions between environmental exposures and 18 variants (16 SNPs and two variable number tandem repeats, or "VNTRs") in SNCA, MAPT and LRRK2, were investigated using data from 1098 PD cases from the upper Midwest, USA and 1098 matched controls. Environmental exposures were assessed using a validated telephone interview script. Five pairwise interactions had uncorrected P-values coffee drinking × MAPT H1/H2 haplotype or MAPT rs16940806, and alcohol drinking × MAPT rs2435211. None of these interactions remained significant after Bonferroni correction. Secondary analyses in strata defined by type of control (sibling or unrelated), sex, or age at onset of the case also did not identify significant interactions after Bonferroni correction. This study documented limited pairwise interactions between established genetic and environmental risk factors for PD; however, the associations were not significant after correction for multiple testing. Copyright © 2013 Elsevier Ltd. All rights reserved.

  4. Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility gene

    DEFF Research Database (Denmark)

    Hersh, Craig P; Pillai, Sreekumar G; Zhu, Guohua

    2010-01-01

    to the identification of chronic obstructive pulmonary disease (COPD) susceptibility genes on chromosome 2q. METHODS: Within the chromosome 2q linkage region, 2,843 SNPs were genotyped in 806 COPD cases and 779 control subjects from Norway, and 2,484 SNPs were genotyped in 309 patients with severe COPD from...... the National Emphysema Treatment Trial and 330 community control subjects. Significant associations from the combined results across the two case-control studies were followed up in 1,839 individuals from 603 families from the International COPD Genetics Network (ICGN) and in 949 individuals from 127 families...

  5. Toxicokinetics of beryllium following inhalation of beryllium oxide by Beagle dogs. III

    International Nuclear Information System (INIS)

    Finch, G.L.; Haley, P.J.; Hoover, M.D.; Mewhinney, J.A.; Bice, D.E.; Eidson, A.F.

    1988-01-01

    Young adult Beagle dogs inhaled radiolabeled beryllium oxide aerosols ( 7 BeO) prepared at either 500 deg. or 1000 deg. C to achieve one of two initial lung burdens (ILBs) of BeO. After exposure, animals were monitored by whole body counting for 7 Be, and excreta, clinical, and radiographic data were collected. One group of dogs was assigned for serial sacrifice for quantitation of beryllium clearance from lung, translocation to other organs, and histopathologic analysis of lung and lymph nodes. A second group of dogs was subjected to periodic bronchopulmonary lavage for analysis of lymphocyte responsiveness to beryllium. These latter dogs were subsequently re-exposed to the high ILB level of BeO prepared t 500 deg. C. ILBs following the second exposure were higher than that after the first exposure (74 vs. 42 μg BeO/kg, respectively). Except for one dog that exhibited enhanced beryllium retention after the second exposure, patterns of whole body clearance were similar to those observed after the initial exposures to the 500 deg. C-BeO. Analysis of lymphocyte responsiveness to beryllium in the second group of dogs is continuing. (author)

  6. Toxicokinetics of beryllium following inhalation of beryllium oxide by Beagle dogs. III

    Energy Technology Data Exchange (ETDEWEB)

    Finch, G L; Haley, P J; Hoover, M D; Mewhinney, J A; Bice, D E; Eidson, A F

    1988-12-01

    Young adult Beagle dogs inhaled radiolabeled beryllium oxide aerosols ({sup 7}BeO) prepared at either 500 deg. or 1000 deg. C to achieve one of two initial lung burdens (ILBs) of BeO. After exposure, animals were monitored by whole body counting for {sup 7}Be, and excreta, clinical, and radiographic data were collected. One group of dogs was assigned for serial sacrifice for quantitation of beryllium clearance from lung, translocation to other organs, and histopathologic analysis of lung and lymph nodes. A second group of dogs was subjected to periodic bronchopulmonary lavage for analysis of lymphocyte responsiveness to beryllium. These latter dogs were subsequently re-exposed to the high ILB level of BeO prepared t 500 deg. C. ILBs following the second exposure were higher than that after the first exposure (74 vs. 42 {mu}g BeO/kg, respectively). Except for one dog that exhibited enhanced beryllium retention after the second exposure, patterns of whole body clearance were similar to those observed after the initial exposures to the 500 deg. C-BeO. Analysis of lymphocyte responsiveness to beryllium in the second group of dogs is continuing. (author)

  7. Epistatic interaction between haplotypes of the ghrelin ligand and receptor genes influence susceptibility to myocardial infarction and coronary artery disease.

    Science.gov (United States)

    Baessler, Andrea; Fischer, Marcus; Mayer, Bjoern; Koehler, Martina; Wiedmann, Silke; Stark, Klaus; Doering, Angela; Erdmann, Jeanette; Riegger, Guenter; Schunkert, Heribert; Kwitek, Anne E; Hengstenberg, Christian

    2007-04-15

    Data from both experimental models and humans provide evidence that ghrelin and its receptor, the growth hormone secretagogue receptor (ghrelin receptor, GHSR), possess a variety of cardiovascular effects. Thus, we hypothesized that genetic variants within the ghrelin system (ligand ghrelin and its receptor GHSR) are associated with susceptibility to myocardial infarction (MI) and coronary artery disease (CAD). Seven single nucleotide polymorphisms (SNPs) covering the GHSR region as well as eight SNPs across the ghrelin gene (GHRL) region were genotyped in index MI patients (864 Caucasians, 'index MI cases') from the German MI family study and in matched controls without evidence of CAD (864 Caucasians, 'controls', MONICA Augsburg). In addition, siblings of these MI patients with documented severe CAD (826 'affected sibs') were matched likewise with controls (n = 826 Caucasian 'controls') and used for verification. The effect of interactions between genetic variants of both genes of the ghrelin system was explored by conditional classification tree models. We found association of several GHSR SNPs with MI [best SNP odds ratio (OR) 1.7 (1.2-2.5); P = 0.002] using a recessive model. Moreover, we identified a common GHSR haplotype which significantly increases the risk for MI [multivariate adjusted OR for homozygous carriers 1.6 (1.1-2.5) and CAD OR 1.6 (1.1-2.5)]. In contrast, no relationship between genetic variants and the disease could be revealed for GHRL. However, the increase in MI/CAD frequency related to the susceptible GHSR haplotype was abolished when it coincided with a common GHRL haplotype. Multivariate adjustments as well as permutation-based methods conveyed the same results. These data are the first to demonstrate an association of SNPs and haplotypes within important genes of the ghrelin system and the susceptibility to MI, whereas association with MI/CAD could be identified for genetic variants across GHSR, no relationship could be revealed for GHRL

  8. Association of STAT4 rs7574865 polymorphism with susceptibility to inflammatory bowel disease: A systematic review and meta-analysis.

    Science.gov (United States)

    Liu, Qi-Fei; Li, Yi; Zhao, Qi-Hong; Wang, Zheng-Yu; Hu, Shuang; Yang, Chao-Qun; Ye, Kui; Li, Li

    2015-10-01

    Association of Signal transducers and activators of transcription-4 (STAT4) gene polymorphism with susceptibility to inflammatory bowel disease have been investigated in a number of epidemiological studies, but the results are inclusive. The aim of this meta-analysis was to more precisely estimate the relationship. The databases of Pubmed and CBM updated to October, 2014 were retrieved. Random- or fixed-effect model was used to estimate odd radio (OR) and corresponding 95% confidence interval (95%CI) on the basis of heterogeneity. Seven articles containing 2196 Crohn's disease (CD) cases, 1588 ulcerative colitis (UC) cases and 4126 controls were identified. We detected a significant association between STAT4 rs7574865 polymorphism and IBD susceptibility in overall population (GG vs. GT+TT, OR=0.855, 95% CI=0.760-0.962, P=0.009), but not in Caucasian and Asian population, respectively. No association was detected between rs7574865 polymorphism and CD susceptibility in overall, Asian and Caucasian population, respectively. Interestingly, a significant association was detected between rs7574865 with UC susceptibility in overall population (G vs. T, OR=0.881, 95% CI=0.798-0.972, P=0.012; GG vs. GT+TT, OR=0.788, 95% CI=0.679-0.914, P=0.002; GG vs. TT, OR=0.683, 95% CI=0.498-0.937, P=0.018) and Caucasians (GG vs. GT+TT, OR=0.833, 95% CI=0.701-0.990, P=0.038; GG+GT vs. TT, OR=0.667, 95% CI=0.456-0.975, P=0.037; GG vs. TT, OR=0.636, 95% CI=0.433-0.934, P=0.021), respectively, and a possible association was found in Asian population (GG vs. GT+TT, OR=0.709, 95% CI=0.503-0.998, P=0.049). STAT4 rs7574865 gene is IBD risk factor, and this gene polymorphism is associated with UC susceptibility, especially in Caucasians. To confirm these findings, further studies with more sample size are required for a definitive conclusion. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  9. Status of material development for lifetime expansion of beryllium reflector

    Energy Technology Data Exchange (ETDEWEB)

    Dorn, C [Materion Brush Beryllium and Composites, California (United States); Tsuchiya, Kunihiko; Kawamura, Hiroshi [Japan Atomic Energy Agency, Oarai Research and Development Center, Oarai, Ibaraki (Japan); Hatano, Y [Univ. of Toyama, Toyama (Japan); Chakrov, P [INP-KNNC, Almaty (Kazakhstan); Kodama, M [Nippon Nuclear Fuel Development Co., Ltd., Oarai, Ibaraki (Japan)

    2012-03-15

    Beryllium has been used as the reflector element material in the reactor, specifically S-200F structural grade beryllium manufactured by Materion Brush Beryllium and Composites (former, Brush Wellman Inc.). As a part of the reactor upgrade, the Japan Atomic Energy Agency (JAEA) also has carried out the cooperation experiments to extend the operating lifetime of the beryllium reflector elements. It will first be necessary to determine which of the material's physical, mechanical and chemical properties will be the most influential on that choice. The irradiation testing plans to evaluate the various beryllium grades are also briefly considered and prepared. In this paper, material selection, irradiation test plan and PEI development for lifetime expansion of beryllium are described for material testing reactors. (author)

  10. Characterization of plasma sprayed beryllium ITER first wall mockups

    Energy Technology Data Exchange (ETDEWEB)

    Castro, R.G.; Vaidya, R.U.; Hollis, K.J. [Los Alamos National Lab., NM (United States). Material Science and Technology Div.

    1998-01-01

    ITER first wall beryllium mockups, which were fabricated by vacuum plasma spraying the beryllium armor, have survived 3000 thermal fatigue cycles at 1 MW/m{sup 2} without damage during high heat flux testing at the Plasma Materials Test Facility at Sandia National Laboratory in New Mexico. The thermal and mechanical properties of the plasma sprayed beryllium armor have been characterized. Results are reported on the chemical composition of the beryllium armor in the as-deposited condition, the through thickness and normal to the through thickness thermal conductivity and thermal expansion, the four-point bend flexure strength and edge-notch fracture toughness of the beryllium armor, the bond strength between the beryllium armor and the underlying heat sink material, and ultrasonic C-scans of the Be/heat sink interface. (author)

  11. Characterization of Plasma Sprayed Beryllium ITER First Wall Mockups

    International Nuclear Information System (INIS)

    Castro, Richard G.; Vaidya, Rajendra U.; Hollis, Kendall J.

    1997-10-01

    ITER first wall beryllium mockups, which were fabricated by vacuum plasma spraying the beryllium armor, have survived 3000 thermal fatigue cycles at 1 MW/sq m without damage during high heat flux testing at the Plasma Materials Test Facility at Sandia National Laboratory in New Mexico. The thermal and mechanical properties of the plasma sprayed beryllium armor have been characterized. Results are reported on the chemical composition of the beryllium armor in the as-deposited condition, the through thickness and normal to the through thickness thermal conductivity and thermal expansion, the four-point bend flexure strength and edge-notch fracture toughness of the beryllium armor, the bond strength between the beryllium armor and the underlying heat sink material, and ultrasonic C-scans of the Be/heat sink interface

  12. Mechanisms of hydrogen retention in metallic beryllium and beryllium oxide and properties of ion-induced beryllium nitride; Rueckhaltemechanismen fuer Wasserstoff in metallischem Beryllium und Berylliumoxid sowie Eigenschaften von ioneninduziertem Berylliumnitrid

    Energy Technology Data Exchange (ETDEWEB)

    Oberkofler, Martin

    2011-09-22

    In the framework of this thesis laboratory experiments on atomically clean beryllium surfaces were performed. They aim at a basic understanding of the mechanisms occurring upon interaction of a fusion plasma with a beryllium first wall. The retention and the temperature dependent release of implanted deuterium ions are investigated. An atomistic description is developed through simulations and through the comparison with calculations based on density functional theory. The results of these investigations are compared to the behaviour of hydrogen upon implantation into thermally grown beryllium oxide layers. Furthermore, beryllium nitride is produced by implantation of nitrogen into metallic beryllium and its properties are investigated. The results are interpreted with regard to the use of beryllium in a fusion reactor. (orig.)

  13. Study on neutron irradiation behavior of beryllium as neutron multiplier

    Energy Technology Data Exchange (ETDEWEB)

    Ishitsuka, Etsuo [Japan Atomic Energy Research Inst., Oarai, Ibaraki (Japan). Oarai Research Establishment

    1998-03-01

    More than 300 tons beryllium is expected to be used as a neutron multiplier in ITER, and study on the neutron irradiation behavior of beryllium as the neutron multiplier with Japan Materials Testing Reactor (JMTR) were performed to get the engineering data for fusion blanket design. This study started as the study on the tritium behavior in beryllium neutron reflector in order to make clear the generation mechanism on tritium of JMTR primary coolant since 1985. These experiences were handed over to beryllium studies for fusion study, and overall studies such as production technology of beryllium pebbles, irradiation behavior evaluation and reprocessing technology have been started since 1990. In this presentation, study on the neutron irradiation behavior of beryllium as the neutron multiplier with JMTR was reviewed from the point of tritium release, thermal properties, mechanical properties and reprocessing technology. (author)

  14. Prenatal ethanol exposure programs an increased susceptibility of non-alcoholic fatty liver disease in female adult offspring rats

    International Nuclear Information System (INIS)

    Shen, Lang; Liu, Zhongfen; Gong, Jun; Zhang, Li; Wang, Linlong; Magdalou, Jacques; Chen, Liaobin; Wang, Hui

    2014-01-01

    Prenatal ethanol exposure (PEE) induces dyslipidemia and hyperglycemia in fetus and adult offspring. However, whether PEE increases the susceptibility to non-alcoholic fatty liver disease (NAFLD) in offspring and its underlying mechanism remain unknown. This study aimed to demonstrate an increased susceptibility to high-fat diet (HFD)-induced NAFLD and its intrauterine programming mechanisms in female rat offspring with PEE. Rat model of intrauterine growth retardation (IUGR) was established by PEE, the female fetus and adult offspring that fed normal diet (ND) or HFD were sacrificed. The results showed that, in PEE + ND group, serum corticosterone (CORT) slightly decreased and insulin-like growth factor-1 (IGF-1) and glucose increased with partial catch-up growth; In PEE + HFD group, serum CORT decreased, while serum IGF-1, glucose and triglyceride (TG) increased, with notable catch-up growth, higher metabolic status and NAFLD formation. Enhanced liver expression of the IGF-1 pathway, gluconeogenesis, and lipid synthesis as well as reduced expression of lipid output were accompanied in PEE + HFD group. In PEE fetus, serum CORT increased while IGF-1 decreased, with low body weight, hyperglycemia, and hepatocyte ultrastructural changes. Hepatic IGF-1 expression as well as lipid output was down-regulated, while lipid synthesis significantly increased. Based on these findings, we propose a “two-programming” hypothesis for an increased susceptibility to HFD-induced NAFLD in female offspring of PEE. That is, the intrauterine programming of liver glucose and lipid metabolic function is “the first programming”, and postnatal adaptive catch-up growth triggered by intrauterine programming of GC-IGF1 axis acts as “the second programming”. - Highlights: • Prenatal ethanol exposure increase the susceptibility of NAFLD in female offspring. • Prenatal ethanol exposure reprograms fetal liver’s glucose and lipid metabolism . • Prenatal ethanol exposure cause

  15. Prenatal ethanol exposure programs an increased susceptibility of non-alcoholic fatty liver disease in female adult offspring rats

    Energy Technology Data Exchange (ETDEWEB)

    Shen, Lang; Liu, Zhongfen; Gong, Jun; Zhang, Li [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Wang, Linlong [Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Magdalou, Jacques [UMR 7561 CNRS-Nancy Université, Faculté de Médicine, Vandoeuvre-lès-Nancy (France); Chen, Liaobin [Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Wang, Hui [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Research Center of Food and Drug Evaluation, Wuhan University, Wuhan 430071 (China)

    2014-01-15

    Prenatal ethanol exposure (PEE) induces dyslipidemia and hyperglycemia in fetus and adult offspring. However, whether PEE increases the susceptibility to non-alcoholic fatty liver disease (NAFLD) in offspring and its underlying mechanism remain unknown. This study aimed to demonstrate an increased susceptibility to high-fat diet (HFD)-induced NAFLD and its intrauterine programming mechanisms in female rat offspring with PEE. Rat model of intrauterine growth retardation (IUGR) was established by PEE, the female fetus and adult offspring that fed normal diet (ND) or HFD were sacrificed. The results showed that, in PEE + ND group, serum corticosterone (CORT) slightly decreased and insulin-like growth factor-1 (IGF-1) and glucose increased with partial catch-up growth; In PEE + HFD group, serum CORT decreased, while serum IGF-1, glucose and triglyceride (TG) increased, with notable catch-up growth, higher metabolic status and NAFLD formation. Enhanced liver expression of the IGF-1 pathway, gluconeogenesis, and lipid synthesis as well as reduced expression of lipid output were accompanied in PEE + HFD group. In PEE fetus, serum CORT increased while IGF-1 decreased, with low body weight, hyperglycemia, and hepatocyte ultrastructural changes. Hepatic IGF-1 expression as well as lipid output was down-regulated, while lipid synthesis significantly increased. Based on these findings, we propose a “two-programming” hypothesis for an increased susceptibility to HFD-induced NAFLD in female offspring of PEE. That is, the intrauterine programming of liver glucose and lipid metabolic function is “the first programming”, and postnatal adaptive catch-up growth triggered by intrauterine programming of GC-IGF1 axis acts as “the second programming”. - Highlights: • Prenatal ethanol exposure increase the susceptibility of NAFLD in female offspring. • Prenatal ethanol exposure reprograms fetal liver’s glucose and lipid metabolism . • Prenatal ethanol exposure cause

  16. Mutations in CARD15 and smoking confer susceptibility to Crohn's disease in the Danish population

    DEFF Research Database (Denmark)

    Ernst, Anja; Jacobsen, Bent Ascanius; Østergaard, Mette

    2007-01-01

    Three CAspase Recruitment Domain (CARD15) mutations have shown to predispose to Crohn's disease in Caucasian populations. The aim of this study was to investigate the mutation frequency in patients with inflammatory bowel disease and in healthy controls in Denmark....

  17. Measuring device for bending of beryllium reflector

    International Nuclear Information System (INIS)

    Nishida, Seiri; Sakamoto, Naoki.

    1994-01-01

    The device of the present invention can measure bending of a beryllium reflector formed in a reactor core of a nuclear reactor by a relatively easy operation. Namely, a sensor portion comprises a long-support that can be inserted to a fuel element-insertion hole disposed in the reactor and a plurality of distance sensors disposed in a longitudinal direction of the support. A supersonic wave sensor which is advantageous in the heat resistance, the size and the accuracy and can conduct measurement in water relatively easily is used as the distance sensors. However, other sensors, instead of the sensor described above, may also be used. The plurality of distance sensors detect the bending amount of the beryllium reflector in the longitudinal direction by such an easy operation of inserting such a sensor portion to the fuel element-insertion hole upon exchange of fuel elements. (I.S.)

  18. Dietary vitamin K and therapeutic warfarin alter susceptibility to vascular calcification in experimental chronic kidney disease

    Science.gov (United States)

    The leading cause of death in patients with chronic kidney disease (CKD) is cardiovascular disease (CVD), with vascular calcification (VC) being a key modifier of disease progression. A local regulator of vascular calcification is vitamin K. This gamma-glutamyl carboxylase substrate is an essential ...

  19. Host and Potential Vector Susceptibility to an Emerging Orbivirus in the United States: Epizootic Hemorrhagic Disease Virus Serotype 6.

    Science.gov (United States)

    Ruder, M G; Stallknecht, D E; Allison, A B; Mead, D G; Carter, D L; Howerth, E W

    2016-05-01

    Epizootic hemorrhagic disease viruses (EHDVs) are orbiviruses transmitted by Culicoides biting midges to domestic and wild ruminants. EHDV-1 and EHDV-2 are endemic in the United States, where epizootic hemorrhagic disease is the most significant viral disease of white-tailed deer (WTD;Odocoileus virginianus) and reports of epizootic hemorrhagic disease in cattle are increasing. In 2006, a reassortant EHDV-6 was isolated from dead WTD in Indiana and has been detected each subsequent year over a wide geographic region. Since EHDV-6 is not a historically endemic serotype in the United States, it is important to understand infection outcome in potential hosts. Specifically, we aimed to evaluate the pathogenicity of the virus in 2 primary US ruminant hosts (WTD and cattle) and the susceptibility of a confirmed US vector (Culicoides sonorensis). Five WTD and 4 cattle were inoculated with >10(6)TCID50EHDV-6 by intradermal and subcutaneous injection. All 5 WTD exhibited moderate to severe disease, and 3 died. Viremia was first detected 3 to 5 days postinfection (dpi) with surviving animals seroconverting by 10 dpi. Two of 4 inoculated cattle had detectable viremia, 5 to 10 dpi and 7 to 24 dpi, respectively. No clinical, hematologic, or pathologic abnormalities were observed. Antibodies were detected by 10 dpi in 3 of 4 cows.C. sonorensis were fed on WTD blood spiked with EHDV-6 and held for 4 to 14 days postfeeding at 25°C. From 4 to 14 days postfeeding, 19 of 171 midges were virus isolation positive and 6 of 171 had ≥10(2.7)TCID50EHDV-6. Although outcomes varied, these studies demonstrate the susceptibility of ruminant and vector hosts in the United States for this recently emerged EHDV serotype. © The Author(s) 2015.

  20. Interaction of hydrogen and its isotopes with irradiated beryllium

    International Nuclear Information System (INIS)

    Tazhibaeva, I.L.; Shestakov, V.P.; Klepikov, A.Kh.; Pomanenko, O.G.; Chikhraj, E.V.; Kenzhin, E.A.; Zverev, V.V.; Kolbanenkov, A.N.

    2000-01-01

    In the article the results of experiments on hydrogen and its isotopes accumulation and gas-release from irradiated beryllium are presented. The irradiation was conducted at different media and temperatures in the RA and IVG.1M reactors. The measurements were carried out by thermal desorption method. Hydrogen release from beryllium samples saturated at different conditions were calculated. Dependence of hydrogen confinement character in beryllium from grain orientation in the sample, temperature and irradiation rate was revealed

  1. Premelting hcp to bcc Transition in Beryllium

    Science.gov (United States)

    Lu, Y.; Sun, T.; Zhang, Ping; Zhang, P.; Zhang, D.-B.; Wentzcovitch, R. M.

    2017-04-01

    Beryllium (Be) is an important material with wide applications ranging from aerospace components to x-ray equipment. Yet a precise understanding of its phase diagram remains elusive. We have investigated the phase stability of Be using a recently developed hybrid free energy computation method that accounts for anharmonic effects by invoking phonon quasiparticles. We find that the hcp → bcc transition occurs near the melting curve at 0 materials.

  2. Analysis of surface contaminants on beryllium windows

    International Nuclear Information System (INIS)

    Gmur, N.F.

    1986-12-01

    It is known that various crystalline and liquid compounds form on the downstream surfaces of beryllium windows exposed to air. It is also known that the integrity of such windows may be compromised resulting in leaks through the window. The purpose of this report is to document the occurrences described as they pertain to the NSLS and to analyze, where possible, the various substances formed

  3. Preparation and properties of beryllium diphosphide

    International Nuclear Information System (INIS)

    Brice, J.F.; Gerardin, R.; Zanne, M.; Gleitzer, C.; Aubry, J.

    1975-01-01

    The compound BeP 2 can be obtained by direct action of phosphor on beryllium metal at 800-1000 0 C, and by removal of arsenic with phosphor in the diarsenide BeAs 2 . BeP 2 is a non hygroscopic brown-red powder. The X rays diffraction provide evidence for a quadratic cell with a = 7.08 A and c = 15.06 A. The atomic stacking is diamond type

  4. Characterization of a disease susceptibility locus for exploring an efficient way to improve rice resistance against bacterial blight

    Institute of Scientific and Technical Information of China (English)

    Qi Cheng; Weihua Mao; Wenya Xie; Qinsong Liu; Jianbo Cao; Meng Yuan; Qinglu Zhang; Xianghua Li; Shiping Wang

    2017-01-01

    Bacterial blight caused by Xanthomonas oryzae pv.oryzae (Xoo) is the most harmful bacterial disease of rice worldwide.Previously,we characterized major disease resistance (MR) gene xa25,which confers race-specific resistance to Xoo strain PXO339.The xa25 is a recessive allele of the SWEET13 locus,but SWEET13's interaction with PXO339 and how efficiently using this locus for rice breeding still need to be defined.Here we show that the SWEET13 allele from rice Zhenshan 97 is a susceptibility gene to PXO339.Using this allele's promoter to regulate xa25 resulted in disease,suggesting that the promoter is a key determinant in SWEET13 caused disease in Zhanshan 97 after PXO339 infection.PXO339 transcriptionally induces SWEET13 to cause disease.Partial suppressing SWEET13 expression leads to a high level of resistance to PXO339.Thus,the transcriptionally suppressed SWEET13 functions as xa25 in resistance to PXO339.Hybrid rice is widely grown in many countries.However,recessive MR genes have not been efficiently used for disease resistance breeding in hybrid rice production for both parents of the hybrid have to carry the same recessive gene.However,the suppressed SWEET13 functions dominantly,which will have advantage to improve the resistance of hybrid rice to xa25-incomptible Xoo.

  5. Permeation behavior of deuterium implanted into beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Nakamura, Hirofumi; Hayashi, Takumi; O' hira, Shigeru; Nishi, Masataka [Japan Atomic Energy Research Inst., Tokai, Ibaraki (Japan). Tokai Research Establishment

    2001-09-01

    Study on Implantation Driven Permeation (IDP) behavior of deuterium through pure beryllium was investigated as a part of the research to predict the tritium permeation through the first wall components ITER (International Thermonuclear Experimental Reactor). The permeation experiments were carried out with two beryllium specimens, one was an unannealed specimen and the other was that annealed at 1173 K. The permeation flux was measured as a function of specimen temperature and incident ion flux. Surface analysis of specimen was also carried out after the permeation experiment. Permeation was observed only with the annealed specimen and no significant permeation was observed with unannealed specimen under the present experimental condition (maximum temperature: 685 K, detection limit: 1x10{sup 13} D atoms/m{sup 2}s). It could be attributed that the intrinsic lattice defects, which act as diffusion preventing site, decreased with the specimen annealing. Based on the result of steady and transient permeation behavior and surface analysis, it was estimated that the deuterium permeation implanted into annealed beryllium was controlled by surface recombination due to the oxide layer on the surface of the permeated side. (author)

  6. Behavior of beryllium pebbles under irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Dalle-Donne, M.; Scaffidi-Argentina, F. [Forschungszentrum Karlsruhe GmbH Technik und Umwelt (Germany). Inst. fuer Neutronenphysik und Reactortechnik; Baldwin, D.L.; Gelles, D.S.; Greenwood, L.R.; Kawamura, H.; Oliver, B.M.

    1998-01-01

    Beryllium pebbles are being considered in fusion reactor blanket designs as neutron multiplier. An example is the European `Helium Cooled Pebble Bed Blanket.` Several forms of beryllium pebbles are commercially available but little is known about these forms in response to fast neutron irradiation. Commercially available beryllium pebbles have been irradiated to approximately 1.3 x 10{sup 22} n/cm{sup 2} (E>1 MeV) at 390degC. Pebbles 1-mm in diameter manufactured by Brush Wellman, USA and by Nippon Gaishi Company, Japan, and 3-mm pebbles manufactured by Brush Wellman were included. All were irradiated in the below-core area of the Experimental Breeder Reactor-II in Idaho Falls, USA, in molybdenum alloy capsules containing helium. Post-irradiation results are presented on density change measurements, tritium release by assay, stepped-temperature anneal, and thermal ramp desorption tests, and helium release by assay and stepped-temperature anneal measurements, for Be pebbles from two manufacturing methods, and with two specimen diameters. The experimental results on density change and tritium and helium release are compared with the predictions of the code ANFIBE. (author)

  7. Dynamic behaviour of S200F beryllium

    International Nuclear Information System (INIS)

    Montoya, Dominique

    1991-01-01

    Compression tests have been made on a large scale of strain, strain rate (up to 2000 s -1 ) and temperature (between 20 C and 300 C). From these experiences, we have calculated a constitutive model for beryllium S200F, which can be used by computer codes. Its formulation is not far from Steinberg, Cochran and Guinan's. But in our case, the influences of temperature and strain rate appear clearly within the expression. To validate our equation, we have used it in a computer code. Its extrapolation for higher strain rates is in good agreement with experiments such as Taylor impact tests or plate impact tests (strain rates greater than 10 4 s -1 ). With micrography, we could settle a link between the main strain mode within the material, and the variation of one parameter of the model. Beside the constitutive model, we have shown that shock loaded beryllium behaves in two different ways. If the strain rate is lower than 5.10 6 s -1 , then it is proportional to the squared shock pressure. Beyond, it is a linear function of shock pressure to the power of four. By a spall study on beryllium, we have confirmed that it is excessively fragile. Its fracture is sudden, at a strength near 1 GPa. (author) [fr

  8. Quantitative method of determining beryllium or a compound thereof in a sample

    Science.gov (United States)

    McCleskey, T. Mark; Ehler, Deborah S.; John, Kevin D.; Burrell, Anthony K.; Collis, Gavin E.; Minogue, Edel M.; Warner, Benjamin P.

    2010-08-24

    A method of determining beryllium or a beryllium compound thereof in a sample, includes providing a sample suspected of comprising beryllium or a compound thereof, extracting beryllium or a compound thereof from the sample by dissolving in a solution, adding a fluorescent indicator to the solution to thereby bind any beryllium or a compound thereof to the fluorescent indicator, and determining the presence or amount of any beryllium or a compound thereof in the sample by measuring fluorescence.

  9. The Cryogenic Properties of Several Aluminum-Beryllium Alloys and a Beryllium Oxide Material

    Science.gov (United States)

    Gamwell, Wayne R.; McGill, Preston B.

    2003-01-01

    Performance related mechanical properties for two aluminum-beryllium (Al-Be) alloys and one beryllium-oxide (BeO) material were developed at cryogenic temperatures. Basic mechanical properties (Le., ultimate tensile strength, yield strength, percent elongation, and elastic modulus were obtained for the aluminum-beryllium alloy, AlBeMetl62 at cryogenic [-195.5"C (-320 F) and -252.8"C (-423"F)I temperatures. Basic mechanical properties for the Be0 material were obtained at cyrogenic [- 252.8"C (-423"F)] temperatures. Fracture properties were obtained for the investment cast alloy Beralcast 363 at cryogenic [-252.8"C (-423"F)] temperatures. The AlBeMetl62 material was extruded, the Be0 material was hot isostatic pressing (HIP) consolidated, and the Beralcast 363 material was investment cast.

  10. In vitro susceptibility of Borrelia burgdorferi isolates to three antibiotics commonly used for treating equine Lyme disease.

    Science.gov (United States)

    Caol, Sanjie; Divers, Thomas; Crisman, Mark; Chang, Yung-Fu

    2017-09-29

    Lyme disease in humans is predominantly treated with tetracycline, macrolides or beta lactam antibiotics that have low minimum inhibitory concentrations (MIC) against Borrelia burgdorferi. Horses with Lyme disease may require long-term treatment making frequent intravenous or intramuscular treatment difficult and when administered orally those drugs may have either a high incidence of side effects or have poor bioavailability. The aim of the present study was to determine the in vitro susceptibility of three B. burgdorferi isolates to three antibiotics of different classes that are commonly used in practice for treating Borrelia infections in horses. Broth microdilution assays were used to determine minimum inhibitory concentration of three antibiotics (ceftiofur sodium, minocycline and metronidazole), for three Borrelia burgdorferi isolates. Barbour-Stoner-Kelly (BSK K + R) medium with a final inoculum of 10 6 Borrelia cells/mL and incubation periods of 72 h were used in the determination of MICs. Observed MICs indicated that all isolates had similar susceptibility to each drug but susceptibility to the tested antimicrobial agents varied; ceftiofur sodium (MIC = 0.08 μg/ml), minocycline hydrochloride (MIC = 0.8 μg/ml) and metronidazole (MIC = 50 μg/ml). The MIC against B. burgorferi varied among the three antibiotics with ceftiofur having the lowest MIC and metronidazole the highest MIC. The MIC values observed for ceftiofur in the study fall within the range of reported serum and tissue concentrations for the drug metabolite following ceftiofur sodium administration as crystalline-free acid. Minocycline and metronidazole treatments, as currently used in equine practice, could fall short of attaining MIC concentrations for B. burgdorferi.

  11. The Rocky Flats Environmental Technology Site beryllium characterization project

    International Nuclear Information System (INIS)

    Morrell, D.M.; Miller, J.R.; Allen, D.F.

    1999-01-01

    A site beryllium characterization project was completed at the Rocky Flats Environmental Technology Site (RFETS) in 1997. Information from historical reviews, previous sampling surveys, and a new sampling survey were used to establish a more comprehensive understanding of the locations and levels of beryllium contamination in 35 buildings. A feature of the sampling strategy was to test if process knowledge was a good predictor of where beryllium contamination could be found. Results revealed that this technique was effective at identifying where surface contamination levels might exceed the RFETS smear control level but that it was not effective in identifying where low concentrations of beryllium might be found

  12. Formation of cellular structure in beryllium at plastic working

    International Nuclear Information System (INIS)

    Papirov, I.I.; Nikolaenko, A.A.; Shokurov, V.S.; Pikalov, A.I.

    2013-01-01

    Conditions of cellular structure formation are investigated at various kinds of deformation and heat treatment of beryllium ingots. It is shown that the cellular structure plays the important role in formation of complex of physical mechanical properties of beryllium. Influence of impurity, various conditions of deformation (temperature, squeezing degree) and heat treatments on substructure, texture and mechanical properties of metal is investigated. Optimum conditions of rolling and heat treatments of beryllium are defined. The way of sign-variable cyclic deformation of beryllium ingots is offered for reception quasi-isotropic fine-grained metal. Physical-mechanical properties of ultra fine-grained metal are studied

  13. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.

    Directory of Open Access Journals (Sweden)

    Wanyang Liu

    Full Text Available Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its susceptibility locus has been mapped to 17q25.3 in Japanese families, but the susceptibility gene is unknown.Genome-wide linkage analysis in eight three-generation families with moyamoya disease revealed linkage to 17q25.3 (P<10(-4. Fine mapping demonstrated a 1.5-Mb disease locus bounded by D17S1806 and rs2280147. We conducted exome analysis of the eight index cases in these families, with results filtered through Ng criteria. There was a variant of p.N321S in PCMTD1 and p.R4810K in RNF213 in the 1.5-Mb locus of the eight index cases. The p.N321S variant in PCMTD1 could not be confirmed by the Sanger method. Sequencing RNF213 in 42 index cases confirmed p.R4810K and revealed it to be the only unregistered variant. Genotyping 39 SNPs around RNF213 revealed a founder haplotype transmitted in 42 families. Sequencing the 260-kb region covering the founder haplotype in one index case did not show any coding variants except p.R4810K. A case-control study demonstrated strong association of p.R4810K with moyamoya disease in East Asian populations (251 cases and 707 controls with an odds ratio of 111.8 (P = 10(-119. Sequencing of RNF213 in East Asian cases revealed additional novel variants: p.D4863N, p.E4950D, p.A5021V, p.D5160E, and p.E5176G. Among Caucasian cases, variants p.N3962D, p.D4013N, p.R4062Q and p.P4608S were identified. RNF213 encodes a 591-kDa cytosolic protein that possesses two functional domains: a Walker motif and a RING finger domain. These exhibit ATPase and ubiquitin ligase activities. Although the mutant alleles (p.R4810K or p.D4013N in the RING domain did not affect transcription levels or ubiquitination activity, knockdown of RNF213 in zebrafish caused irregular wall formation in trunk arteries and abnormal sprouting vessels.We provide evidence suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya

  14. Growth performance, productivity and diseases susceptibility of barley varieties in Slovenia within the Cobra project’s site comparison

    Directory of Open Access Journals (Sweden)

    Grobelnik Mlakar Silva

    2016-12-01

    Full Text Available Different plant genotypes react differently in different climates. A field experiment was carried out to estimate the growth performance, productivity and diseases susceptibility of spring barley varieties in the Slovenian climate. We received some varieties, mainly of Nordic origin, from the Technical University of Denmark, a COBRA project partner, which were previously tested in estimated future climate in RERAF phytotron. Varieties of the highest grain yield (3,993 kg ha-1 in ‘Evergreen’ to 5,146 kg ha-1 in ‘Sebastian’ were rather shorter (58.7 cm to 67.1 cm and mostly had the highest specific grain weight (54.3 to 58.6 kg 100 L-1 and 1000-kernel weight (30.2 to 37.1 g. They developed 1,561 to 2,532 tillers m-2 and 515 to 840 ears m-2 and reached a heading stage between 13th and 25th of May. The tested varieties seem rather insusceptible to most common diseases, but susceptible to cereal leaf beetle attacks.

  15. Health communication, genetic determinism, and perceived control: the roles of beliefs about susceptibility and severity versus disease essentialism.

    Science.gov (United States)

    Parrott, Roxanne; Kahl, Mary L; Ndiaye, Khadidiatou; Traeder, Tara

    2012-08-01

    This research examined the lay public's beliefs about genes and health that might be labeled deterministic. The goals of this research were to sort through the divergent and contested meanings of genetic determinism in an effort to suggest directions for public health genomic communication. A survey conducted in community-based settings of 717 participants included 267 who self-reported race as African American and 450 who self-reported race as Caucasian American. The survey results revealed that the structure of genetic determinism included 2 belief sets. One set aligned with perceived threat, encompassing susceptibility and severity beliefs linked to genes and health. The other set represents beliefs about biological essentialism linked to the role of genes for health. These concepts were found to be modestly positively related. Threat beliefs predicted perceived control over genes. Public health efforts to communicate about genes and health should consider effects of these messages for (a) perceived threat relating to susceptibility and severity and (b) perceptions of disease essentialism. Perceived threat may enhance motivation to act in health protective ways, whereas disease essentialist beliefs may contribute to a loss of motivation associated with control over health.

  16. Complex interplay of future climate levels of CO2, ozone and temperature on susceptibility to fungal diseases in barley

    DEFF Research Database (Denmark)

    Mikkelsen, Bolette Lind; Bagger Jørgensen, Rikke; Lyngkjær, Michael Foged

    2015-01-01

    efficiency of PSII, both at ambient and elevated [CO2], suggesting that photosynthesis was not limited by [CO2] at ambient temperature. When growing under elevated temperature or [O3], infection by the biotrophic powdery mildew fungus decreased, whereas disease symptoms and growth of the toxin......Barley (Hordeum vulgare) was grown in different climatic environments with elevated [CO2] (700 vs 385 ppm), [O3] (60/90 vs 20 ppb) and temperature (24/19 vs 19/12°C day/night) as single factors and in combinations, to evaluate the impact of these climatic factors on photosynthesis...... and susceptibility to powdery mildew and spot blotch disease. No significant increase in net CO2 assimilation rate was observed in barley grown under elevated [CO2] at ambient temperature. However, this rate was positively stimulated under elevated temperature together with a slightly higher potential quantum...

  17. Corrosion of beryllium oxide; Corrosion de l'oxyde de beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Elston, J; Caillat, R [Commissariat a l' Energie Atomique, Saclay (France). Centre d' Etudes Nucleaires

    1958-07-01

    Data are reported on the volatilization rate of beryllium oxide in moist air depending on temperature and water vapour concentration. They are concerned with powder samples or sintered shapes of various densities. For sintered samples, the volatilization rate is very low under the following conditions: - temperature: 1300 deg. C, - water vapour concentration in moist air: 25 g/m{sup 3}, - flow rate: 12 I/hour corresponding to a speed of 40 m/hour on the surface of the sample. For calcinated powders (1300 deg. C), grain growth has been observed under a stream of moist air at 1100 deg. C. For instance, grain size changes from 0,5 to at least 2 microns after 500 hours of exposure at this temperature. Furthermore, results data are reported on corrosion of sintered beryllium oxide in pressurized water. At 250 deg. C, under a pressure of 40 kg/cm{sup 2} water is very slightly corrosive; however, internal strains are revealed. Finally, some features on the corrosion in liquid sodium are exposed. (author)Fren. [French] La volatilisation de l'oxyde de beryllium dans l'air humide est etudiee en fonction de la temperature pour differentes teneurs de vapeur d'eau. Les essais decrits portent sur de l'oxyde de beryllium en poudre ou sur des echantillons d'oxyde de beryllium fritte de differentes densites. Avec un debit d'air de 12 I/h contenant 25 g de vapeur par m{sup 3} correspondant a une vitesse de 40 m/h sur la surface de l'echantillon, la volatilisation des frittes a 1300 deg. C reste tres faible. Sur de la poudre d'oxyde de beryllium calcinee initialement a 1300 deg. C, on observe un grossissement de la taille des grains sous l'influence de l'air humide a 1100 deg. C. Par exemple, elle passe de 0,5 a au moins 2 microns apres 500 heures d'exposition a cette temperature. On donne d'autre part les resultats d'une etude de la corrosion de frittes d'oxyde de beryllium par l'eau, en autoclave. A 250 deg. C, sous une pression de 40 kg/cm{sup 2}, l'action de l'eau reste tres

  18. Prion disease susceptibility is affected by β-structure folding propensity and local side-chain interactions in PrP

    Science.gov (United States)

    Khan, M. Qasim; Sweeting, Braden; Mulligan, Vikram Khipple; Arslan, Pharhad Eli; Cashman, Neil R.; Pai, Emil F.; Chakrabartty, Avijit

    2010-01-01

    Prion diseases occur when the normally α-helical prion protein (PrP) converts to a pathological β-structured state with prion infectivity (PrPSc). Exposure to PrPSc from other mammals can catalyze this conversion. Evidence from experimental and accidental transmission of prions suggests that mammals vary in their prion disease susceptibility: Hamsters and mice show relatively high susceptibility, whereas rabbits, horses, and dogs show low susceptibility. Using a novel approach to quantify conformational states of PrP by circular dichroism (CD), we find that prion susceptibility tracks with the intrinsic propensity of mammalian PrP to convert from the native, α-helical state to a cytotoxic β-structured state, which exists in a monomer–octamer equilibrium. It has been controversial whether β-structured monomers exist at acidic pH; sedimentation equilibrium and dual-wavelength CD evidence is presented for an equilibrium between a β-structured monomer and octamer in some acidic pH conditions. Our X-ray crystallographic structure of rabbit PrP has identified a key helix-capping motif implicated in the low prion disease susceptibility of rabbits. Removal of this capping motif increases the β-structure folding propensity of rabbit PrP to match that of PrP from mouse, a species more susceptible to prion disease. PMID:21041683

  19. Prion disease susceptibility is affected by beta-structure folding propensity and local side-chain interactions in PrP.

    Science.gov (United States)

    Khan, M Qasim; Sweeting, Braden; Mulligan, Vikram Khipple; Arslan, Pharhad Eli; Cashman, Neil R; Pai, Emil F; Chakrabartty, Avijit

    2010-11-16

    Prion diseases occur when the normally α-helical prion protein (PrP) converts to a pathological β-structured state with prion infectivity (PrP(Sc)). Exposure to PrP(Sc) from other mammals can catalyze this conversion. Evidence from experimental and accidental transmission of prions suggests that mammals vary in their prion disease susceptibility: Hamsters and mice show relatively high susceptibility, whereas rabbits, horses, and dogs show low susceptibility. Using a novel approach to quantify conformational states of PrP by circular dichroism (CD), we find that prion susceptibility tracks with the intrinsic propensity of mammalian PrP to convert from the native, α-helical state to a cytotoxic β-structured state, which exists in a monomer-octamer equilibrium. It has been controversial whether β-structured monomers exist at acidic pH; sedimentation equilibrium and dual-wavelength CD evidence is presented for an equilibrium between a β-structured monomer and octamer in some acidic pH conditions. Our X-ray crystallographic structure of rabbit PrP has identified a key helix-capping motif implicated in the low prion disease susceptibility of rabbits. Removal of this capping motif increases the β-structure folding propensity of rabbit PrP to match that of PrP from mouse, a species more susceptible to prion disease.

  20. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease

    Science.gov (United States)

    Lambert, Jean-Charles; Ibrahim-Verbaas, Carla A; Harold, Denise; Naj, Adam C; Sims, Rebecca; Bellenguez, Céline; Jun, Gyungah; DeStefano, Anita L; Bis, Joshua C; Beecham, Gary W; Grenier-Boley, Benjamin; Russo, Giancarlo; Thornton-Wells, Tricia A; Jones, Nicola; Smith, Albert V; Chouraki, Vincent; Thomas, Charlene; Ikram, M Arfan; Zelenika, Diana; Vardarajan, Badri N; Kamatani, Yoichiro; Lin, Chiao-Feng; Gerrish, Amy; Schmidt, Helena; Kunkle, Brian; Dunstan, Melanie L; Ruiz, Agustin; Bihoreau, Marie-Thérèse; Choi, Seung-Hoan; Reitz, Christiane; Pasquier, Florence; Hollingworth, Paul; Ramirez, Alfredo; Hanon, Olivier; Fitzpatrick, Annette L; Buxbaum, Joseph D; Campion, Dominique; Crane, Paul K; Baldwin, Clinton; Becker, Tim; Gudnason, Vilmundur; Cruchaga, Carlos; Craig, David; Amin, Najaf; Berr, Claudine; Lopez, Oscar L; De Jager, Philip L; Deramecourt, Vincent; Johnston, Janet A; Evans, Denis; Lovestone, Simon; Letenneur, Luc; Morón, Francisco J; Rubinsztein, David C; Eiriksdottir, Gudny; Sleegers, Kristel; Goate, Alison M; Fiévet, Nathalie; Huentelman, Matthew J; Gill, Michael; Brown, Kristelle; Kamboh, M Ilyas; Keller, Lina; Barberger-Gateau, Pascale; McGuinness, Bernadette; Larson, Eric B; Green, Robert; Myers, Amanda J; Dufouil, Carole; Todd, Stephen; Wallon, David; Love, Seth; Rogaeva, Ekaterina; Gallacher, John; St George-Hyslop, Peter; Clarimon, Jordi; Lleo, Alberto; Bayer, Anthony; Tsuang, Debby W; Yu, Lei; Tsolaki, Magda; Bossù, Paola; Spalletta, Gianfranco; Proitsi, Petroula; Collinge, John; Sorbi, Sandro; Sanchez-Garcia, Florentino; Fox, Nick C; Hardy, John; Deniz Naranjo, Maria Candida; Bosco, Paolo; Clarke, Robert; Brayne, Carol; Galimberti, Daniela; Mancuso, Michelangelo; Matthews, Fiona; Moebus, Susanne; Mecocci, Patrizia; Zompo, Maria Del; Maier, Wolfgang; Hampel, Harald; Pilotto, Alberto; Bullido, Maria; Panza, Francesco; Caffarra, Paolo; Nacmias, Benedetta; Gilbert, John R; Mayhaus, Manuel; Lannfelt, Lars; Hakonarson, Hakon; Pichler, Sabrina; Carrasquillo, Minerva M; Ingelsson, Martin; Beekly, Duane; Alvarez, Victoria; Zou, Fanggeng; Valladares, Otto; Younkin, Steven G; Coto, Eliecer; Hamilton-Nelson, Kara L; Gu, Wei; Razquin, Cristina; Pastor, Pau; Mateo, Ignacio; Owen, Michael J; Faber, Kelley M; Jonsson, Palmi V; Combarros, Onofre; O’Donovan, Michael C; Cantwell, Laura B; Soininen, Hilkka; Blacker, Deborah; Mead, Simon; Mosley, Thomas H; Bennett, David A; Harris, Tamara B; Fratiglioni, Laura; Holmes, Clive; de Bruijn, Renee F A G; Passmore, Peter; Montine, Thomas J; Bettens, Karolien; Rotter, Jerome I; Brice, Alexis; Morgan, Kevin; Foroud, Tatiana M; Kukull, Walter A; Hannequin, Didier; Powell, John F; Nalls, Michael A; Ritchie, Karen; Lunetta, Kathryn L; Kauwe, John S K; Boerwinkle, Eric; Riemenschneider, Matthias; Boada, Mercè; Hiltunen, Mikko; Martin, Eden R; Schmidt, Reinhold; Rujescu, Dan; Wang, Li-san; Dartigues, Jean-François; Mayeux, Richard; Tzourio, Christophe; Hofman, Albert; Nöthen, Markus M; Graff, Caroline; Psaty, Bruce M; Jones, Lesley; Haines, Jonathan L; Holmans, Peter A; Lathrop, Mark; Pericak-Vance, Margaret A; Launer, Lenore J; Farrer, Lindsay A; van Duijn, Cornelia M; Van Broeckhoven, Christine; Moskvina, Valentina; Seshadri, Sudha; Williams, Julie; Schellenberg, Gerard D; Amouyel, Philippe

    2013-01-01

    Eleven susceptibility loci for late-onset Alzheimer’s disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide association studies (GWAS) in individuals of European ancestry. In stage 1, we used genotyped and imputed data (7,055,881 SNPs) to perform meta-analysis on 4 previously published GWAS data sets consisting of 17,008 Alzheimer’s disease cases and 37,154 controls. In stage 2,11,632 SNPs were genotyped and tested for association in an independent set of 8,572 Alzheimer’s disease cases and 11,312 controls. In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 × 10−8) in the combined stage 1 and stage 2 analysis, of which 11 are newly associated with Alzheimer’s disease. PMID:24162737

  1. Genetic analysis of disease susceptibility in the Arabidopsis-Hyaloperonospora parasitica interaction

    NARCIS (Netherlands)

    Damme, M.M.A. van

    2007-01-01

    On a global scale the impact and costs of plant diseases on agriculture is enormous, highlighting the importance of the research on this topic. Plant disease is the result of a compatible interaction between plants and adapted pathogens. The knowledge on the molecular mechanisms underlying

  2. Examination of Susceptibility to Libby Amphibole Asbestos-Induced Injury in Rat Models of Cardiovascular Disease

    Science.gov (United States)

    Although cardiovascular disease (CVD) is considered a risk factor for the exacerbation of air pollution health effects, no studies have been done assessing the influence of the disease on the development of lung injury induced by asbestos exposure. In this study we examined lung ...

  3. The die is cast - Arsenic exposure in early life and disease susceptibility

    Science.gov (United States)

    Abstract Early life exposure to arsenic in humans and mice produces similar patterns of disease in later life. Given the long interval between exposure and effect, epigenetic effects of early life exposure to arsenic may account for development and progression of disease in bo...

  4. Comparisons of protein profiles of beech bark disease resistant and susceptible American beech (Fagus grandifolia)

    Science.gov (United States)

    Mary E. Mason; Jennifer L. Koch; Marek Krasowski; Judy. Loo

    2013-01-01

    Beech bark disease is an insect-fungus complex that damages and often kills American beech trees and has major ecological and economic impacts on forests of the northeastern United States and southeastern Canadian forests. The disease begins when exotic beech scale insects feed on the bark of trees, and is followed by infection of damaged bark tissues by one of the...

  5. Alcohol Metabolizing Gene Polymorphisms as Genetic Biomarkers of Alcoholic Liver Disease Susceptibility and Severity: A Northeast India Patient Based Study

    Directory of Open Access Journals (Sweden)

    Tarun K. Basumatary

    2017-07-01

    Full Text Available Background: Excessive alcohol consumption is associated with genetic predisposition to Alcoholic Liver Disease (ALD, but there is very limited data on both molecular and genetic aspects of ALD among the Northeast Indian (NEI population. Aim and Objectives: Screening the role of genetic alterations in alcohol metabolizing pathway genes in the pathogenesis of ALD which is prevalent in the ethnically NEI population. Material and Methods: Whole blood was collected from ALD patients (n=150 [alcoholic chronic liver disease (CLD, n=110 and alcoholic cirrhosis (Cirr/cirrhosis, n=40], Alcoholic Without Liver Disease (AWLD, n=93 and healthy controls (HC/controls, n=274 with informed consents along with Fibroscan based liver stiffness measurement (LSM score and clinical data. Alcohol Dehydrogenase 2 (ADH2 and Aldehyde Dehydrogenase 2 (ALDH2 genotyping was studied by Polymerase Chain Reaction with Confronting Two Pair Primers (PCR-CTPP; and Alcohol Dehydrogenase 3 (ADH3 by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP method. Results:ADH2*2 genotype was predominant and associated with increased risk of cirrhosis compared to healthy controls, AWLD and CLD cases; and CLD compared to AWLD cases. ADH3*1 genotype was associated with significantly increased risk of cirrhosis compared to healthy controls, AWLD and CLD cases (p<0.001. Variant ALDH2 genotype was rare and analysis of the joint effects of genotypes showed that higher variant genotype resulted increased risk of CLD and cirrhosis compared to AWLD, and cirrhosis compared to CLD; thereby confirming the association of the polymorphisms in key alcohol metabolizing genes in the predisposition to ALD susceptibility and severity. Presence of variant ADH2, ADH3 and ALDH2 genotypes correlated with higher LSM scores in ALD. Conclusion: Alterations in the alcohol metabolizing genes are critically associated with ALD susceptibility and severity.

  6. Studies on the susceptibility of ostriches (Struthio camelus to the Indonesian velogenic strain of Newcastle disease virus

    Directory of Open Access Journals (Sweden)

    Darminto

    1998-12-01

    Full Text Available Susceptibility of ostriches (Struthio camelus to the Indonesian velogenic strain of Newcastle disease virus (NDV was evaluated by artificial infection . Twelve - 5 to 6 week old ostriches were divided into 3 groups each containing 4 birds . The first group was inoculated through respiratory system by dropping directly the virus solution into the nostrils, while the second group was inoculated through digestive system by dropping directly the virus solution into the oesophagus, with the dose of infection 106ELDSo (50%-embryo lethal dose per bird . Meanwhile, the third group was treated as uninfected control . All infected birds developed antibody responses, but only two inoculated birds from the first group and two inoculated birds from the second group developed clinical signs of Newcastle disease (ND, with no specific pathological alterations . Infected birds, either sicks or healthy, excreted the challenge viruses through the respiratory system and still be detected up to the end of this experiment, ie . 15 days post-inoculation . The challenge viruses can be re-isolated from the brain, trachea, lungs, heart, liver, spleen, kidneys, small intestine, cecal-tonsil, and proventriculus of the infected birds . This study concludes that: (1 the ostriches are susceptible to the infection of the Indonesian velogenic strain ofNDV; (2 all infected birds developed immune responses, but only half of them develops el jtigi aj i disease ; (3 the infected birds excreted the challenge viruses for a considerable long time which may play role as the Mginiseti.ce ofinfectron the other healthy ostriches ; and (4 the challenge viruses can be re-isolated from various organs of the birds . .

  7. Antimicrobial susceptibility monitoring of respiratory tract pathogens isolated from diseased cattle and pigs across Europe: the VetPath study.

    Science.gov (United States)

    de Jong, Anno; Thomas, Valérie; Simjee, Shabbir; Moyaert, Hilde; El Garch, Farid; Maher, Kirsty; Morrissey, Ian; Butty, Pascal; Klein, Ulrich; Marion, Hervé; Rigaut, Delphine; Vallé, Michel

    2014-08-06

    VetPath is an ongoing pan-European antibiotic susceptibility monitoring programme collecting pathogens from diseased antimicrobial non-treated cattle, pigs and poultry. In the current study, 1001 isolates from cattle and pig respiratory tract infections were tested for their antimicrobial susceptibilities. Non-replicate lung samples or nasopharyngeal/nasal swabs were collected from animals with acute clinical signs in 11 countries during 2002-2006. Pasteurella multocida and Mannheimia haemolytica from cattle and P. multocida, Actinobacillus pleuropneumoniae and Streptococcus suis from pigs were isolated by standard methods. S. suis was also isolated from meningitis cases. MICs of 16 antibiotics were assessed centrally by broth microdilution following CLSI recommendations. Results were interpreted using CLSI breakpoints where available. P. multocida (231) and M. haemolytica (138) isolates were all susceptible to amoxicillin/clavulanic acid, ceftiofur, enrofloxacin and trimethoprim/sulfamethoxazole. Resistance to florfenicol and spectinomycin was 0.4% and 3.5% in P. multocida, respectively, and absent in M. haemolytica isolates. Tetracycline resistance was 5.7% and 14.6% for P. multocida and M. haemolytica. In pigs, 230 P. multocida, 220 A. pleuropneumoniae and 182 S. suis isolates were recovered. Resistance to amoxicillin/clavulanic acid, ceftiofur, enrofloxacin, florfenicol, tiamulin and tilmicosin was absent or <1%. Trimethoprim/sulfamethoxazole resistance was 3-6% and tetracycline resistance varied from 14.7% in A. pleuropneumoniae to 81.8% in S. suis. In conclusion, low resistance to antibiotics with defined clinical breakpoints, except for tetracycline, was observed among the major respiratory tract pathogens recovered from cattle and pigs. Since for approximately half of the antibiotics in this panel no CLSI-defined breakpoints were available, setting of the missing veterinary breakpoints is important. Copyright © 2014 Elsevier B.V. All rights reserved.

  8. Symbiotic immuno-suppression: is disease susceptibility the price of bleaching resistance?

    Science.gov (United States)

    Merselis, Daniel G; Lirman, Diego; Rodriguez-Lanetty, Mauricio

    2018-01-01

    Accelerating anthropogenic climate change threatens to destroy coral reefs worldwide through the processes of bleaching and disease. These major contributors to coral mortality are both closely linked with thermal stress intensified by anthropogenic climate change. Disease outbreaks typically follow bleaching events, but a direct positive linkage between bleaching and disease has been debated. By tracking 152 individual coral ramets through the 2014 mass bleaching in a South Florida coral restoration nursery, we revealed a highly significant negative correlation between bleaching and disease in the Caribbean staghorn coral, Acropora cervicornis . To explain these results, we propose a mechanism for transient immunological protection through coral bleaching: removal of Symbiodinium during bleaching may also temporarily eliminate suppressive symbiont modulation of host immunological function. We contextualize this hypothesis within an ecological perspective in order to generate testable predictions for future investigation.

  9. Deuterium/hydrogen isotope exchange on beryllium and beryllium nitride; Deuterium/Wasserstoff-Isotopenaustausch an Beryllium und Berylliumnitrid

    Energy Technology Data Exchange (ETDEWEB)

    Dollase, Petra; Eichler, Michael; Koeppen, Martin; Dittmar, Timo; Linsmeier, Christian [Forschungszentrum Juelich GmbH, Institut fuer Energie- und Klimaforschung - Plasmaphysik (Germany)

    2016-07-01

    In the fusion experiments JET and ITER, the first wall is made up of beryllium. The use of nitrogen is discussed for radiative cooling in the divertor. This can react with the surface of the first wall to form beryllium nitride (Be{sub 3}N{sub 2}). The hydrogen isotopes deuterium and tritium, which react in the fusion reaction to helium and a neutron, are used as fuel. Since the magnetic confinement of the plasma is not perfect, deuterium and tritium ions are also found on the beryllium wall and can accumulate there. This should be avoided due to the radioactivity of tritium. Therefore the isotope exchange with deuterium is investigated to regenerate the first wall. We investigate the isotopic exchange of deuterium and protium in order to have not to work with radioactive tritium. The ion bombardment is simulated with an ion source. With voltages up to a maximum of 5 kV, deuterium and protic hydrogen ions are implanted in polycrystalline Be and Be{sub 3}N{sub 2}. The samples are then analyzed in situ using X-ray photoelectron spectroscopy (XPS) and thermal desorption spectroscopy (TDS). Subsequently, samples prepared under the same conditions are characterized ex-situ by means of nuclear reaction analysis (NRA). [German] In den Fusionsexperimenten JET und ITER besteht die erste Wand im Hauptraum aus Beryllium (Be). Zur Strahlungskuehlung im Divertor wird der Einsatz von Stickstoff diskutiert. Dieser kann mit der Oberflaeche der ersten Wand zu Berylliumnitrid (Be{sub 3}N{sub 2}) reagieren. Als Brennstoff werden die Wasserstoffisotope Deuterium und Tritium eingesetzt, die in der Fusionsreaktion zu Helium und einem Neutron reagieren. Da der magnetische Einschluss des Plasmas nicht perfekt ist, treffen auch Deuterium- und Tritiumionen auf die Berylliumwand auf und koennen sich dort anreichern. Das soll aufgrund der Radioaktivitaet von Tritium unbedingt vermieden werden. Daher wird zur Regenerierung der ersten Wand der Isotopenaustausch mit Deuterium untersucht. Wir

  10. The inflammatory bowel disease (IBD susceptibility genes NOD1 and NOD2 have conserved anti-bacterial roles in zebrafish

    Directory of Open Access Journals (Sweden)

    Stefan H. Oehlers

    2011-11-01

    Inflammatory bowel disease (IBD, in the form of Crohn’s disease (CD or ulcerative colitis (UC, is a debilitating chronic immune disorder of the intestine. A complex etiology resulting from dysfunctional interactions between the intestinal immune system and its microflora, influenced by host genetic susceptibility, makes disease modeling challenging. Mutations in NOD2 have the highest disease-specific risk association for CD, and a related gene, NOD1, is associated with UC. NOD1 and NOD2 encode intracellular bacterial sensor proteins acting as innate immune triggers, and represent promising therapeutic targets. The zebrafish has the potential to aid in modeling genetic and environmental aspects of IBD pathogenesis. Here, we report the characterization of the Nod signaling components in the zebrafish larval intestine. The nod1 and nod2 genes are expressed in intestinal epithelial cells and neutrophils together with the Nod signaling pathway genes ripk2, a20, aamp, cd147, centaurin b1, erbin and grim-19. Using a zebrafish embryo Salmonella infection model, morpholino-mediated depletion of Nod1 or Nod2 reduced the ability of embryos to control systemic infection. Depletion of Nod1 or Nod2 decreased expression of dual oxidase in the intestinal epithelium and impaired the ability of larvae to reduce intracellular bacterial burden. This work highlights the potential use of zebrafish larvae in the study of components of IBD pathogenesis.

  11. Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

    Directory of Open Access Journals (Sweden)

    Kristen N Stevens

    Full Text Available Congenital heart disease (CHD is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1 is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an exceptional candidate gene to consider as a cause of complex congenital heart disease. We evaluated whether genetic variation in ISL1 fits the common variant-common disease hypothesis. A 2-stage case-control study examined 27 polymorphisms mapping to the ISL1 locus in 300 patients with complex congenital heart disease and 2,201 healthy pediatric controls. Eight genic and flanking ISL1 SNPs were significantly associated with complex congenital heart disease. A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease. Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations.

  12. Sintering of beryllium oxide; Frittage de l'oxyde de beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Caillat, R; Pointud, R [Commissariat a l' Energie Atomique, Saclay (France). Centre d' Etudes Nucleaires

    1955-07-01

    This study had for origin to find a process permitting to manufacture bricks of beryllium oxide of pure nuclear grade, with a density as elevated as possible and with standardized shape. The sintering under load was the technique kept for the manufacture of the bricks. Because of the important toxicity of the beryllium oxide, the general features for the preliminary study of the sintering, have been determined while using alumina. The obtained results will be able to act as general indication for ulterior studies with sintering under load. (M.B.) [French] Cette etude a eu pour origine la recherche d'un procede permettant de fabriquer industriellement des briques d'oxyde de beryllium nucleaireraent pures, de densite aussi elevee que possible et de forme standardisee. Le frittage sous charge fut la technique retenue pour la fabrication des briques. En raison de la grande toxicite de l'oxyde de beryllium, les caracteristiques generales du frittage, pour l'etude preliminaire, ont ete determine en utilisant de l'alumine. Les resultats obtenus pourront servir d'indication generale pour des etudes ulterieurs avec frittage sous charge. (M.B.)

  13. Implanted deuterium retention and release in carbon-coated beryllium

    International Nuclear Information System (INIS)

    Anderl, R.A.; Longhurst, G.R.; Pawelko, R.J.; Oates, M.A.

    1997-01-01

    Deuterium implantation experiments have been conducted on samples of clean and carbon-coated beryllium. These studies entailed preparation and characterization of beryllium samples coated with carbon thicknesses of 100, 500, and 1000 angstrom. Heat treatment of a beryllium sample coated with carbon to a thickness of approximately 100 angstrom revealed that exposure to a temperature of 400 degrees C under high vacuum conditions was sufficient to cause substantial diffusion of beryllium through the carbon layer, resulting in more beryllium than carbon at the surface. Comparable concentrations of carbon and beryllium were observed in the bulk of the coating layer. Higher than expected oxygen levels were observed throughout the coating layer as well. Samples were exposed to deuterium implantation followed by thermal desorption without exposure to air. Differences were observed in deuterium retention and postimplantation release behavior in the carbon-coated samples as compared with bare samples. For comparable implantation conditions (sample temperature of 400 degrees C and an incident deuterium flux of approximately 6 X 10 19 D/m 2 sec), the quantity of deuterium retained in the bare sample was less than that retained in the carbon-coated samples. Further, the release of the deuterium took place at lower temperatures for the bare beryllium surfaces than for carbon-coated beryllium samples. 4 refs., 8 figs., 1 tab

  14. Implanted Deuterium Retention and Release in Carbon-Coated Beryllium

    Science.gov (United States)

    Anderl, R. A.; Longhurst, G. R.; Pawelko, R. J.; Oates, M. A.

    1997-06-01

    Deuterium implantation experiments have been conducted on samples of clean and carbon-coated beryllium. These studies entailed preparation and characterization of beryllium samples coated with carbon thicknesses of 100, 500, and 1000 Å. Heat treatment of a beryllium sample coated with carbon to a thickness of approximately 100 Å revealed that exposure to a temperature of 400°C under high vacuum conditions was sufficient to cause substantial diffusion of beryllium through the carbon layer, resulting in more beryllium than carbon at the surface. Comparable concentrations of carbon and beryllium were observed in the bulk of the coating layer. Higher than expected oxygen levels were observed throughout the coating layer as well. Samples were exposed to deuterium implantation followed by thermal desorption without exposure to air. Differences were observed in deuterium retention and postimplantation release behavior in the carbon-coated samples as compared with bare samples. For comparable implantation conditions (sample temperature of 400°C and an incident deuterium flux of approximately 6 × 1019 D/m2-s), the quantity of deuterium retained in the bare sample was less than that retained in the carbon-coated samples. Further, the release of the deuterium took place at lower temperatures for the bare beryllium surfaces than for carbon-coated beryllium samples.

  15. 10 CFR 850.20 - Baseline beryllium inventory.

    Science.gov (United States)

    2010-01-01

    ... 10 Energy 4 2010-01-01 2010-01-01 false Baseline beryllium inventory. 850.20 Section 850.20 Energy... Baseline beryllium inventory. (a) The responsible employer must develop a baseline inventory of the... inventory, the responsible employer must: (1) Review current and historical records; (2) Interview workers...

  16. Atlas of hot isostatic beryllium powder pressing diagrams

    International Nuclear Information System (INIS)

    Stoev, P.I.; Papirov, I.I.; Tikhinskij, G.F.; Vasil'ev, A.A.

    1995-01-01

    Diagrams of hot isotopic pressing (HIP) of beryllium powder with different grain size in a wide range of pressing parameters are built by mathematical modeling methods. The HIP diagrams presented are divided into 3 groups: parametric dependencies D=f(P,T); technological HIP diagrams; compacting mechanisms. The created data bank permits to optimise beryllium powder HIP with changing parameters. 4 refs., 23 figs

  17. Reactivity effects due to beryllium poisoning of BR2

    International Nuclear Information System (INIS)

    Kalcheva, S.; Ponsard, B.; Koonen, E.

    2004-01-01

    This paper illustrates the impact of the poisoning of the beryllium reflector on reactivity variations of the Belgian MTR BR2 in SCK.CEN. Detailed calculations by MCNP-4C of reactivity effects caused by strong neutron absorbers 3 He and 6 Li during reactor operation history are presented. The importance of beryllium poisoning for the accuracy of reactivity predictions is discussed. (authors)

  18. Progress report of preliminary studies of beryllium toxicity

    Energy Technology Data Exchange (ETDEWEB)

    Hodge, H.C.

    1947-09-01

    This document was prepared in connection with a symposium of beryllium poisoning held at the Saranac Laboratories and describes progress made and a research program aimed at characterizing the toxicity of beryllium. Seven individual papers in this document are separately indexed and cataloged for the database.

  19. Joining of beryllium by braze welding technique: preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Banaim, P.; Abramov, E. [Ben-Gurion Univ. of the Negev, Beersheba (Israel); Zalkind, S.; Eden, S.

    1998-01-01

    Within the framework of some applications, there is a need to join beryllium parts to each other. Gas Tungsten Arc Braze Welds were made in beryllium using 0.3 mm commercially Aluminum (1100) shim preplaced at the joint. The welds exhibited a tendency to form microcracks in the Fusion Zone and Heat Affected Zone. All the microcracks were backfilled with Aluminum. (author)

  20. Laser welding of a beryllium/tantalum collimator

    International Nuclear Information System (INIS)

    Lingenfelter, A.C.; Anglin, C.D.

    1985-01-01

    This report describes the methods utilized in the fabrication of a collimator from 0.001 inch thick beryllium and tantalum foil. The laser welding process proved to be an acceptable method for joining the beryllium in a standing edge joint configuration

  1. Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases.

    Directory of Open Access Journals (Sweden)

    Hariklia Eleftherohorinou

    2009-11-01

    Full Text Available Although the introduction of genome-wide association studies (GWAS have greatly increased the number of genes associated with common diseases, only a small proportion of the predicted genetic contribution has so far been elucidated. Studying the cumulative variation of polymorphisms in multiple genes acting in functional pathways may provide a complementary approach to the more common single SNP association approach in understanding genetic determinants of common disease. We developed a novel pathway-based method to assess the combined contribution of multiple genetic variants acting within canonical biological pathways and applied it to data from 14,000 UK individuals with 7 common diseases. We tested inflammatory pathways for association with Crohn's disease (CD, rheumatoid arthritis (RA and type 1 diabetes (T1D with 4 non-inflammatory diseases as controls. Using a variable selection algorithm, we identified variants responsible for the pathway association and evaluated their use for disease prediction using a 10 fold cross-validation framework in order to calculate out-of-sample area under the Receiver Operating Curve (AUC. The generalisability of these predictive models was tested on an independent birth cohort from Northern Finland. Multiple canonical inflammatory pathways showed highly significant associations (p 10(-3-10(-20 with CD, T1D and RA. Variable selection identified on average a set of 205 SNPs (149 genes for T1D, 350 SNPs (189 genes for RA and 493 SNPs (277 genes for CD. The pattern of polymorphisms at these SNPS were found to be highly predictive of T1D (91% AUC and RA (85% AUC, and weakly predictive of CD (60% AUC. The predictive ability of the T1D model (without any parameter refitting had good predictive ability (79% AUC in the Finnish cohort. Our analysis suggests that genetic contribution to common inflammatory diseases operates through multiple genes interacting in functional pathways.

  2. Immunogenetic basis of environmental lung disease: Lessons from the berylliosis model

    International Nuclear Information System (INIS)

    Saltini, C.; Richeldi, L.; Amicosante, M.; Franchi, A.; Lombardi, G.

    1998-01-01

    The role of genetic factors has been hypothesized in the pathogenesis of a number of chronic inflammatory lung diseases. The genes of the major histocompatibility complex (MHC) locus on human chromosome 6 have been identified as important determinants in diseases caused both by inorganic and organic compounds such as beryllium, gold, acid anhydrides, isocyanates and grass pollens. Since many environmental factors are the determinants of the immunopathogenesis of asthma, pulmonary granulomatous disorders, hypersensitivity pneumonitis and fibrotic lung disorders, an understanding of the interaction between environmental factors is crucial to epidemiology, prevention and treatment of these disorders. Berylliosis is an environmental chronic inflammatory disorder of the lung caused by inhalation of beryllium dusts. A human leukocyte antigen class II marker (HLA-DP Glu69) has been found to be strongly associated with the disease. In in vitro studies, the gene has been shown to play a direct role in the immunopathogenesis of the disease. In human studies, the gene has been shown to confer increased susceptibility to beryllium in exposed workers, thus suggesting that HLA gene markers may be used as epidemiological probes to identify population groups at higher risk of environmental lung diseases, to identify environmental levels of lung immunotoxicants that would be safe for the entire population and the prevent disease risk associated with occupation, manufactured products and the environment. Studies on the associations between human leukocyte antigens and chronic inflammatory lung disorders are reviewed in the context of the berylliosis model. (au)

  3. Quantification and micron-scale imaging of spatial distribution of trace beryllium in shrapnel fragments and metallurgic samples with correlative fluorescence detection method and secondary ion mass spectrometry (SIMS)

    Science.gov (United States)

    Abraham, Jerrold L.; Chandra, Subhash; Agrawal, Anoop

    2014-01-01

    Recently, a report raised the possibility of shrapnel-induced chronic beryllium disease (CBD) from long-term exposure to the surface of retained aluminum shrapnel fragments in the body. Since the shrapnel fragments contained trace beryllium, methodological developments were needed for beryllium quantification and to study its spatial distribution in relation to other matrix elements, such as aluminum and iron, in metallurgic samples. In this work, we developed methodology for quantification of trace beryllium in samples of shrapnel fragments and other metallurgic sample-types with main matrix of aluminum (aluminum cans from soda, beer, carbonated water, and aluminum foil). Sample preparation procedures were developed for dissolving beryllium for its quantification with the fluorescence detection method for homogenized measurements. The spatial distribution of trace beryllium on the sample surface and in 3D was imaged with a dynamic secondary ion mass spectrometry (SIMS) instrument, CAMECA IMS 3f SIMS ion microscope. The beryllium content of shrapnel (~100 ppb) was the same as the trace quantities of beryllium found in aluminum cans. The beryllium content of aluminum foil (~25 ppb) was significantly lower than cans. SIMS imaging analysis revealed beryllium to be distributed in the form of low micron-sized particles and clusters distributed randomly in X-Y-and Z dimensions, and often in association with iron, in the main aluminum matrix of cans. These observations indicate a plausible formation of Be-Fe or Al-Be alloy in the matrix of cans. Further observations were made on fluids (carbonated water) for understanding if trace beryllium in cans leached out and contaminated the food product. A direct comparison of carbonated water in aluminum cans and plastic bottles revealed that beryllium was below the detection limits of the fluorescence detection method (~0.01 ppb). These observations indicate that beryllium present in aluminum matrix was either present in an

  4. Quantification and micron-scale imaging of spatial distribution of trace beryllium in shrapnel fragments and metallurgic samples with correlative fluorescence detection method and secondary ion mass spectrometry (SIMS).

    Science.gov (United States)

    Abraham, J L; Chandra, S; Agrawal, A

    2014-11-01

    Recently, a report raised the possibility of shrapnel-induced chronic beryllium disease from long-term exposure to the surface of retained aluminum shrapnel fragments in the body. Since the shrapnel fragments contained trace beryllium, methodological developments were needed for beryllium quantification and to study its spatial distribution in relation to other matrix elements, such as aluminum and iron, in metallurgic samples. In this work, we developed methodology for quantification of trace beryllium in samples of shrapnel fragments and other metallurgic sample-types with main matrix of aluminum (aluminum cans from soda, beer, carbonated water and aluminum foil). Sample preparation procedures were developed for dissolving beryllium for its quantification with the fluorescence detection method for homogenized measurements. The spatial distribution of trace beryllium on the sample surface and in 3D was imaged with a dynamic secondary ion mass spectrometry instrument, CAMECA IMS 3f secondary ion mass spectrometry ion microscope. The beryllium content of shrapnel (∼100 ppb) was the same as the trace quantities of beryllium found in aluminum cans. The beryllium content of aluminum foil (∼25 ppb) was significantly lower than cans. SIMS imaging analysis revealed beryllium to be distributed in the form of low micron-sized particles and clusters distributed randomly in X-Y- and Z dimensions, and often in association with iron, in the main aluminum matrix of cans. These observations indicate a plausible formation of Be-Fe or Al-Be alloy in the matrix of cans. Further observations were made on fluids (carbonated water) for understanding if trace beryllium in cans leached out and contaminated the food product. A direct comparison of carbonated water in aluminum cans and plastic bottles revealed that beryllium was below the detection limits of the fluorescence detection method (∼0.01 ppb). These observations indicate that beryllium present in aluminum matrix was either

  5. New susceptibility loci associated with kidney disease in type 1 diabetes

    DEFF Research Database (Denmark)

    Sandholm, Niina; Salem, Rany M; McKnight, Amy Jayne

    2012-01-01

    Diabetic kidney disease, or diabetic nephropathy (DN), is a major complication of diabetes and the leading cause of end-stage renal disease (ESRD) that requires dialysis treatment or kidney transplantation. In addition to the decrease in the quality of life, DN accounts for a large proportion...... mechanisms behind the disease remain poorly understood, and current therapeutic strategies rarely result in reversal of DN. In the GEnetics of Nephropathy: an International Effort (GENIE) consortium, we have undertaken a meta-analysis of genome-wide association studies (GWAS) of T1D DN comprising ~2...... SNP in the ERBB4 gene (rs7588550, P = 2.1 × 10(-7)), a gene with type 2 diabetes DN differential expression and in the same intron as a variant with cis-eQTL expression of ERBB4. All these detected associations represent new signals in the pathogenesis of DN....

  6. Protection of air in premises and environment against beryllium aerosols

    Energy Technology Data Exchange (ETDEWEB)

    Bitkolov, N.Z.; Vishnevsky, E.P.; Krupkin, A.V. [Research Inst. of Industrial and Marine Medicine, St. Petersburg (Russian Federation)

    1998-01-01

    First and foremost, the danger of beryllium aerosols concerns a possibility of their inhalation. The situation is aggravated with high biological activity of the beryllium in a human lung. The small allowable beryllium aerosols` concentration in air poses a rather complex and expensive problem of the pollution prevention and clearing up of air. The delivery and transportation of beryllium aerosols from sites of their formation are defined by the circuit of ventilation, that forms aerodynamics of air flows in premises, and aerodynamic links between premises. The causes of aerosols release in air of premises from hoods, isolated and hermetically sealed vessels can be vibrations, as well as pulses of temperature and pressure. Furthermore, it is possible the redispersion of aerosols from dirty surfaces. The effective protection of air against beryllium aerosols at industrial plants is provided by a complex of hygienic measures: from individual means of breath protection up to collective means of the prevention of air pollution. (J.P.N.)

  7. Hydrodynamic instabilities in beryllium targets for the National Ignition Facility

    Energy Technology Data Exchange (ETDEWEB)

    Yi, S. A., E-mail: austinyi@lanl.gov; Simakov, A. N.; Wilson, D. C.; Olson, R. E.; Kline, J. L.; Batha, S. H. [Los Alamos National Laboratory, P.O. Box 1663, Los Alamos, New Mexico 87545 (United States); Clark, D. S.; Hammel, B. A.; Milovich, J. L.; Salmonson, J. D.; Kozioziemski, B. J. [Lawrence Livermore National Laboratory, P.O. Box 808, Livermore, California 94551 (United States)

    2014-09-15

    Beryllium ablators offer higher ablation velocity, rate, and pressure than their carbon-based counterparts, with the potential to increase the probability of achieving ignition at the National Ignition Facility (NIF) [E. I. Moses et al., Phys. Plasmas 16, 041006 (2009)]. We present here a detailed hydrodynamic stability analysis of low (NIF Revision 6.1) and high adiabat NIF beryllium target designs. Our targets are optimized to fully utilize the advantages of beryllium in order to suppress the growth of hydrodynamic instabilities. This results in an implosion that resists breakup of the capsule, and simultaneously minimizes the amount of ablator material mixed into the fuel. We quantify the improvement in stability of beryllium targets relative to plastic ones, and show that a low adiabat beryllium capsule can be at least as stable at the ablation front as a high adiabat plastic target.

  8. Preparation and characterization of beryllium doped organic plasma polymer coatings

    International Nuclear Information System (INIS)

    Brusasco, R.; Letts, S.; Miller, P.; Saculla, M.; Cook, R.

    1995-01-01

    We report the formation of beryllium doped plasma polymerized coatings derived from a helical resonator deposition apparatus, using diethylberyllium as the organometaric source. These coatings had an appearance not unlike plain plasma polymer and were relatively stable to ambient exposure. The coatings were characterized by Inductively Coupled Plasma Mass Spectrometry and X-Ray Photoelectron Spectroscopy. Coating rates approaching 0.7 μm hr -1 were obtained with a beryllium-to-carbon ratio of 1:1.3. There is also a significant oxygen presence in the coating as well which is attributed to oxidation upon exposure of the coating to air. The XPS data show only one peak for beryllium with the preponderance of the XPS data suggesting that the beryllium exists as BeO. Diethylberyllium was found to be inadequate as a source for beryllium doped plasma polymer, due to thermal decomposition and low vapor recovery rates

  9. Reaction-diffusion modeling of hydrogen in beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Wensing, Mirko; Matveev, Dmitry; Linsmeier, Christian [Forschungszentrum Juelich GmbH, Institut fuer Energie- und Klimaforschung - Plasmaphysik (Germany)

    2016-07-01

    Beryllium will be used as first-wall material for the future fusion reactor ITER as well as in the breeding blanket of DEMO. In both cases it is important to understand the mechanisms of hydrogen retention in beryllium. In earlier experiments with beryllium low-energy binding states of hydrogen were observed by thermal desorption spectroscopy (TDS) which are not yet well understood. Two candidates for these states are considered: beryllium-hydride phases within the bulk and surface effects. The retention of deuterium in beryllium is studied by a reaction rate approach using a coupled reaction diffusion system (CRDS)-model relying on ab initio data from density functional theory calculations (DFT). In this contribution we try to assess the influence of surface recombination.

  10. Cooler temperatures destabilize RNA interference and increase susceptibility of disease vector mosquitoes to viral infection.

    Directory of Open Access Journals (Sweden)

    Zach N Adelman

    Full Text Available The impact of global climate change on the transmission dynamics of infectious diseases is the subject of extensive debate. The transmission of mosquito-borne viral diseases is particularly complex, with climatic variables directly affecting many parameters associated with the prevalence of disease vectors. While evidence shows that warmer temperatures often decrease the extrinsic incubation period of an arthropod-borne virus (arbovirus, exposure to cooler temperatures often predisposes disease vector mosquitoes to higher infection rates. RNA interference (RNAi pathways are essential to antiviral immunity in the mosquito; however, few experiments have explored the effects of temperature on the RNAi machinery.We utilized transgenic "sensor" strains of Aedes aegypti to examine the role of temperature on RNA silencing. These "sensor" strains express EGFP only when RNAi is inhibited; for example, after knockdown of the effector proteins Dicer-2 (DCR-2 or Argonaute-2 (AGO-2. We observed an increase in EGFP expression in transgenic sensor mosquitoes reared at 18°C as compared with 28°C. Changes in expression were dependent on the presence of an inverted repeat with homology to a portion of the EGFP sequence, as transgenic strains lacking this sequence, the double stranded RNA (dsRNA trigger for RNAi, showed no change in EGFP expression when reared at 18°C. Sequencing small RNAs in sensor mosquitoes reared at low temperature revealed normal processing of dsRNA substrates, suggesting the observed deficiency in RNAi occurs downstream of DCR-2. Rearing at cooler temperatures also predisposed mosquitoes to higher levels of infection with both chikungunya and yellow fever viruses.This data suggest that microclimates, such as those present in mosquito breeding sites, as well as more general climactic variables may influence the dynamics of mosquito-borne viral diseases by affecting the antiviral immunity of disease vectors.

  11. ZIRCONIUM-TITANIUM-BERYLLIUM BRAZING ALLOY

    Science.gov (United States)

    Gilliland, R.G.; Patriarca, P.; Slaughter, G.M.; Williams, L.C.

    1962-06-12

    A new and improved ternary alloy is described which is of particular utility in braze-bonding parts made of a refractory metal selected from Group IV, V, and VI of the periodic table and alloys containing said metal as a predominating alloying ingredient. The brazing alloy contains, by weight, 40 to 50 per cent zirconium, 40 to 50 per cent titanium, and the balance beryllium in amounts ranging from 1 to 20 per cent, said alloy having a melting point in the range 950 to 1400 deg C. (AEC)

  12. Moessbauer study of iron diffusion in beryllium

    International Nuclear Information System (INIS)

    Sepiol, B.; Ruebenbauer, K.; Miczko, B.; Birchall, T.

    1991-01-01

    The broadening of the 14.41 keV Moessbauer line of 57 Fe dure to diffusion of iron atoms in polycrystalline beryllium has been investigated in the temperature range 1123 to 1423 K. The observed broadenings obey the Arrhenius law with activation energy 1.66(10) eV, i.e., lower than that obtained from the corresponding polycrystalline tracer data. The variations of the resonant fraction, second order Doppler shift and quadrupole splitting versus temperature are reported. An average diffusion coefficient has been calculated from the obtained broadenings and compared with the tracer results. (orig.)

  13. Investigation of cerebral iron deposition in aged patients with ischemic cerebrovascular disease using susceptibility-weighted imaging

    Directory of Open Access Journals (Sweden)

    Liu Y

    2016-08-01

    Full Text Available Yin Liu, Jun Liu, Huanghui Liu, Yunjie Liao, Lu Cao, Bin Ye, Wei Wang Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, People’s Republic of China Objective: The aim of this study was to investigate focal iron deposition level in the brain in patients with ischemic cerebrovascular disease and its correlation with cerebral small vessel disease imaging markers.Patients and methods: Seventy-four patients with first-ever transient ischemic attack (median age: 69 years; 30 males and 44 females and 77 patients with positive ischemic stroke history (median age: 72 years; 43 males and 34 females were studied retrospectively. On phase image of susceptibility-weighted imaging and regions of interest were manually drawn at the bilateral head of the caudate nucleus, lenticular nucleus (LN, thalamus (TH, frontal white matter, and occipital white matter. The correlation between iron deposition level and the clinical and imaging variables was also investigated.Results: Iron deposition level at LN was significantly higher in patients with previous stroke history. It linearly correlated with the presence and number of cerebral microbleeds (CMBs but not with white matter hyperintensity and lacunar infarct. Multiple linear regression analysis showed that deep structure CMBs were the most relevant in terms of iron deposition at LN.Conclusion: Iron deposition at LN may increase in cases of more severe ischemia in aged patients with transient ischemic attack, and it may be an imaging marker for CMB of ischemic origin. Keywords: cerebral microbleed, ischemia, susceptibility-weighted imaging, iron, lenticular nucleus

  14. Activating KIR and HLA Bw4 ligands are associated to decreased susceptibility to pemphigus foliaceus, an autoimmune blistering skin disease.

    Directory of Open Access Journals (Sweden)

    Danillo G Augusto

    Full Text Available The KIR genes and their HLA class I ligands have thus far not been investigated in pemphigus foliaceus (PF and related autoimmune diseases, such as pemphigus vulgaris. We genotyped 233 patients and 204 controls for KIR by PCR-SSP. HLA typing was performed by LABType SSO reagent kits. We estimated the odds ratio, 95% confidence interval and performed logistic regression analyses to test the hypothesis that KIR genes and their known ligands influence susceptibility to PF. We found significant negative association between activating genes and PF. The activating KIR genes may have an overlapping effect in the PF susceptibility and the presence of more than three activating genes was protective (OR=0.49, p=0.003. A strong protective association was found for higher ratios activating/inhibitory KIR (OR=0.44, p=0.001. KIR3DS1 and HLA-Bw4 were negatively associated to PF either isolated or combined, but higher significance was found for the presence of both together (OR=0.34, p<10(-3 suggesting that the activating function is the major factor to interfere in the PF pathogenesis. HLA-Bw4 (80I and 80T was decreased in patients. There is evidence that HLA-Bw4(80T may also be important as KIR3DS1 ligand, being the association of this pair (OR=0.07, p=0.001 stronger than KIR3DS1-Bw4(80I (OR=0.31, p=0.002. Higher levels of activating KIR signals appeared protective to PF. The activating KIR genes have been commonly reported to increase the risk for autoimmunity, but particularities of endemic PF, like the well documented influence the environmental exposure in the pathogenesis of this disease, may be the reason why activated NK cells probably protect against pemphigus foliaceus.

  15. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

    NARCIS (Netherlands)

    Schunkert, Heribert; König, Inke R.; Kathiresan, Sekar; Reilly, Muredach P.; Assimes, Themistocles L.; Holm, Hilma; Preuss, Michael; Stewart, Alexandre F. R.; Barbalic, Maja; Gieger, Christian; Absher, Devin; Aherrahrou, Zouhair; Allayee, Hooman; Altshuler, David; Anand, Sonia S.; Andersen, Karl; Anderson, Jeffrey L.; Ardissino, Diego; Ball, Stephen G.; Balmforth, Anthony J.; Barnes, Timothy A.; Becker, Diane M.; Becker, Lewis C.; Berger, Klaus; Bis, Joshua C.; Boekholdt, S. Matthijs; Boerwinkle, Eric; Braund, Peter S.; Brown, Morris J.; Burnett, Mary Susan; Buysschaert, Ian; Carlquist, John F.; Chen, Li; Cichon, Sven; Codd, Veryan; Davies, Robert W.; Dedoussis, George; Dehghan, Abbas; Demissie, Serkalem; Devaney, Joseph M.; Diemert, Patrick; Do, Ron; Doering, Angela; Eifert, Sandra; Mokhtari, Nour Eddine El; Ellis, Stephen G.; Elosua, Roberto; Engert, James C.; Epstein, Stephen E.; de Faire, Ulf; Fischer, Marcus; Folsom, Aaron R.; Freyer, Jennifer; Gigante, Bruna; Girelli, Domenico; Gretarsdottir, Solveig; Gudnason, Vilmundur; Gulcher, Jeffrey R.; Halperin, Eran; Hammond, Naomi; Hazen, Stanley L.; Hofman, Albert; Horne, Benjamin D.; Illig, Thomas; Iribarren, Carlos; Jones, Gregory T.; Jukema, J. Wouter; Kaiser, Michael A.; Kaplan, Lee M.; Kastelein, John J. P.; Khaw, Kay-Tee; Knowles, Joshua W.; Kolovou, Genovefa; Kong, Augustine; Laaksonen, Reijo; Lambrechts, Diether; Leander, Karin; Lettre, Guillaume; Li, Mingyao; Lieb, Wolfgang; Loley, Christina; Lotery, Andrew J.; Mannucci, Pier M.; Maouche, Seraya; Martinelli, Nicola; McKeown, Pascal P.; Meisinger, Christa; Meitinger, Thomas; Melander, Olle; Merlini, Pier Angelica; Mooser, Vincent; Morgan, Thomas; Mühleisen, Thomas W.; Muhlestein, Joseph B.; Münzel, Thomas; Musunuru, Kiran; Nahrstaedt, Janja; Nelson, Christopher P.; Nöthen, Markus M.; Olivieri, Oliviero; Patel, Riyaz S.; Patterson, Chris C.; Peters, Annette; Peyvandi, Flora; Qu, Liming; Quyyumi, Arshed A.; Rader, Daniel J.; Rallidis, Loukianos S.; Rice, Catherine; Rosendaal, Frits R.; Rubin, Diana; Salomaa, Veikko; Sampietro, M. Lourdes; Sandhu, Manj S.; Schadt, Eric; Schäfer, Arne; Schillert, Arne; Schreiber, Stefan; Schrezenmeir, Jürgen; Schwartz, Stephen M.; Siscovick, David S.; Sivananthan, Mohan; Sivapalaratnam, Suthesh; Smith, Albert; Smith, Tamara B.; Snoep, Jaapjan D.; Soranzo, Nicole; Spertus, John A.; Stark, Klaus; Stirrups, Kathy; Stoll, Monika; Tang, W. H. Wilson; Tennstedt, Stephanie; Thorgeirsson, Gudmundur; Thorleifsson, Gudmar; Tomaszewski, Maciej; Uitterlinden, Andre G.; van Rij, Andre M.; Voight, Benjamin F.; Wareham, Nick J.; Wells, George A.; Wichmann, H.-Erich; Wild, Philipp S.; Willenborg, Christina; Witteman, Jaqueline C. M.; Wright, Benjamin J.; Ye, Shu; Zeller, Tanja; Ziegler, Andreas; Cambien, Francois; Goodall, Alison H.; Cupples, L. Adrienne; Quertermous, Thomas; März, Winfried; Hengstenberg, Christian; Blankenberg, Stefan; Ouwehand, Willem H.; Hall, Alistair S.; Deloukas, Panos; Thompson, John R.; Stefansson, Kari; Roberts, Robert; Thorsteinsdottir, Unnur; O'Donnell, Christopher J.; McPherson, Ruth; Erdmann, Jeanette; Samani, Nilesh J.

    2011-01-01

    We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13

  16. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

    NARCIS (Netherlands)

    H. Schunkert (Heribert); I.R. König (Inke); S. Kathiresan (Sekar); M.P. Reilly (Muredach); T.L. Assimes (Themistocles); H. Holm (Hilma); M. Preuss (Michael); A.F.R. Stewart (Alexandre); M. Barbalic (maja); C. Gieger (Christian); D. Absher (Devin); Z. Aherrahrou (Zouhair); H. Allayee (Hooman); D. Altshuler (David); S.S. Anand (Sonia); K.K. Andersen (Karl); J.L. Anderson (Jeffrey); D. Ardissino (Diego); S.G. Ball (Stephen); A.J. Balmforth (Anthony); T.A. Barnes (Timothy); D.M. Becker (Diane); K. Berger (Klaus); J.C. Bis (Joshua); S.M. Boekholdt (Matthijs); E.A. Boerwinkle (Eric); P.S. Braund (Peter); M.J. Brown (Morris); M.S. Burnett; I. Buysschaert (Ian); J.F. Carlquist (John); L. Chen (Li); S. Cichon (Sven); V. Codd (Veryan); R.W. Davies (Robert); G.V. Dedoussis (George); A. Dehghan (Abbas); S. Demissie (Serkalem); J. Devaney (Joseph); P. Diemert (Patrick); R. Do (Ron); A. Doering (Angela); S. Eifert (Sandra); N.E.E. Mokhtari; S.G. Ellis (Stephen); R. Elosua (Roberto); J.C. Engert (James); S.E. Epstein (Stephen); U. de Faire (Ulf); M. Fischer (Marcus); A.R. Folsom (Aaron); J. Freyer (Jennifer); B. Gigante (Bruna); D. Girelli (Domenico); S. Gretarsdottir (Solveig); V. Gudnason (Vilmundur); J.R. Gulcher (Jeffrey); E. Halperin (Eran); N. Hammond (Naomi); S.L. Hazen (Stanley); A. Hofman (Albert); B.D. Horne (Benjamin); T. Illig (Thomas); C. Iribarren (Carlos); G.T. Jones (Gregory); J.W. Jukema (Jan Wouter); M.A. Kaiser (Michael); R.C. Kaplan (Robert); K-T. Khaw (Kay-Tee); J.W. Knowles (Joshua); G. Kolovou (Genovefa); A. Kong (Augustine); R. Laaksonen (Reijo); D. Lambrechts (Diether); K. Leander (Karin); G. Lettre (Guillaume); X. Li (Xiaohui); W. Lieb (Wolfgang); C. Loley (Christina); A.J. Lotery (Andrew); P.M. Mannucci (Pier); S. Maouche (Seraya); N. Martinelli (Nicola); P.P. McKeown (Pascal); C. Meisinger (Christa); T. Meitinger (Thomas); O. Melander (Olle); P.A. Merlini; V. Mooser (Vincent); T. Morgan (Thomas); T.W. Mühleisen (Thomas); J.B. Muhlestein (Joseph); T. Münzel (Thomas); K. Musunuru (Kiran); J. Nahrstaedt (Janja); C.P. Nelson (Christopher P.); M.M. Nöthen (Markus); O. Olivieri (Oliviero); R.S. Patel (Riyaz); C.C. Patterson (Chris); A. Peters (Annette); F. Peyvandi (Flora); L. Qu (Liming); A.A. Quyyumi (Arshed); D.J. Rader (Daniel); L.S. Rallidis (Loukianos); C. Rice (Catherine); F.R. Rosendaal (Frits); D. Rubin (Diana); V. Salomaa (Veikko); M.L. Sampietro (Maria Lourdes); M.S. Sandhu (Manj); E.E. Schadt (Eric); A. Scḧsignfer (Arne); A. Schillert (Arne); S. Schreiber (Stefan); J. Schrezenmeir (Jürgen); S.M. Schwartz (Stephen); D.S. Siscovick (David); M. Sivananthan (Mohan); S. Sivapalaratnam (Suthesh); A.V. Smith (Albert Vernon); J.D. Snoep (Jaapjan); N. Soranzo (Nicole); J.A. Spertus (John); K. Stark (Klaus); K. Stirrups (Kathy); M. Stoll (Monika); W.H.W. Tang (Wilson); S. Tennstedt (Stephanie); G. Thorgeirsson (Gudmundur); G. Thorleifsson (Gudmar); M. Tomaszewski (Maciej); A.G. Uitterlinden (André); A.M. van Rij (Andre); B.F. Voight (Benjamin); N.J. Wareham (Nick); G.A. Wells (George); H.E. Wichmann (Heinz Erich); P.S. Wild (Philipp); C. Willenborg (Christina); J.C.M. Witteman (Jacqueline); B.J. Wright (Benjamin); S. Ye (Shu); T. Zeller (Tanja); A. Ziegler (Andreas); F. Cambien (François); A.H. Goodall (Alison); L.A. Cupples (Adrienne); T. Quertermous (Thomas); W. Mäsignrz (Winfried); C. Hengstenberg (Christian); S. Blankenberg (Stefan); W.H. Ouwehand (Willem); A.S. Hall (Alistair); J.J.P. Kastelein (John); P. Deloukas (Panagiotis); J.R. Thompson (John); K. Stefansson (Kari); R. Roberts (Robert); U. Thorsteinsdottir (Unnur); C.J. O'Donnell (Christopher); R. McPherson (Ruth); J. Erdmann (Jeanette); N.J. Samani (Nilesh)

    2011-01-01

    textabstractWe performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis

  17. Cuticles of European and American lobsters harbor diverse bacterial species and differ in disease susceptibility.

    Science.gov (United States)

    Whitten, Miranda M A; Davies, Charlotte E; Kim, Anita; Tlusty, Michael; Wootton, Emma C; Chistoserdov, Andrei; Rowley, Andrew F

    2014-06-01

    Diseases of lobster shells have a significant impact on fishing industries but the risk of disease transmission between different lobster species has yet to be properly investigated. This study compared bacterial biofilm communities from American (Homarus americanus) and European lobsters (H. gammarus), to assess both healthy cuticle and diseased cuticle during lesion formation. Culture-independent molecular techniques revealed diversity in the bacterial communities of cuticle biofilms both within and between the two lobster species, and identified three bacterial genera associated with shell lesions plus two putative beneficial bacterial species (detected exclusively in healthy cuticle or healing damaged cuticle). In an experimental aquarium shared between American and European lobsters, heterospecific transmission of potentially pathogenic bacteria appeared to be very limited; however, the claws of European lobsters were more likely to develop lesions when reared in the presence of American lobsters. Aquarium biofilms were also examined but revealed no candidate pathogens for environmental transmission. Aquimarina sp. 'homaria' (a potential pathogen associated with a severe epizootic form of shell disease) was detected at a much higher prevalence among American than European lobsters, but its presence correlated more with exacerbation of existing lesions rather than with lesion initiation. © 2014 The Authors. MicrobiologyOpen published by John Wiley & Sons Ltd.

  18. CARDIOVASCULAR DISEASES, SUSCEPTIBILITY TO OXIDATIVE INJURY AND COMPENSATORY MECHANISMS: INSIGHTS FROM RODENT MODELS

    Science.gov (United States)

    Cardiovascular diseases (CVD) are the number one cause for human mortality and nearly 25% of the population develops chronic CVD at an age of 65 years or older. Environmental and genetic interactions govern pathogenesis. Increased oxidative stress and compromised antioxidant stat...

  19. The MHC locus and genetic susceptibility to autoimmune and infectious diseases

    NARCIS (Netherlands)

    Matzaraki, Vasiliki; Kumar, Vinod; Wijmenga, Cisca; Zhernakova, Alexandra

    2017-01-01

    In the past 50 years, variants in the major histocompatibility complex (MHC) locus, also known as the human leukocyte antigen (HLA), have been reported as major risk factors for complex diseases. Recent advances, including large genetic screens, imputation, and analyses of non-additive and epistatic

  20. Cortical correlates of susceptibility to upper limb freezing in Parkinson's disease

    NARCIS (Netherlands)

    Scholten, M.; Govindan, R.B.; Braun, C.; Bloem, B.R.; Plewnia, C.; Kruger, R.; Gharabaghi, A.; Weiss, D.

    2016-01-01

    OBJECTIVE: Freezing behavior is an unmet symptom in Parkinson's disease (PD), which reflects its complex pathophysiology. Freezing behavior can emerge when attentional capacity is reduced, i.e. under dual task interference. In this study, we characterized the cortical network signatures underlying

  1. Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases.

    Science.gov (United States)

    Martínez, A; Varadé, J; Márquez, A; Cénit, M C; Espino, L; Perdigones, N; Santiago, J L; Fernández-Arquero, M; de la Calle, H; Arroyo, R; Mendoza, J L; Fernández-Gutiérrez, B; de la Concha, E G; Urcelay, E

    2008-09-01

    The STAT4 gene encodes a transcription factor involved in the signaling pathways of several cytokines, including interleukin-12 (IL-12), the type I interferons, and IL-23. Recently, the association of a STAT4 haplotype marked by rs7574865 with rheumatoid arthritis (RA) and systemic lupus erythematosus was reported. The aim of this study was to investigate the role of this STAT4 tagging polymorphism in other immune-mediated diseases. The study group comprised 2,776 consecutively recruited Spanish individuals: 575 with RA, 440 with multiple sclerosis, 700 with inflammatory bowel disease, 311 with type 1 diabetes, and 723 ethnically matched healthy control subjects. The STAT4 polymorphism rs7574865 was genotyped using a predesigned TaqMan assay. Allele and genotype frequencies in patients and control subjects were compared by chi-square test. The association of STAT4 polymorphism rs7574865 with RA was validated in patients of Spanish origin (for T versus G, P = 1.2 x 10(-6), odds ratio [OR] 1.59, 95% confidence interval [95% CI] 1.31-1.92), and the association was described for the first time in both clinical forms of inflammatory bowel disease, Crohn's disease and ulcerative colitis (for T versus G, P = 0.006, OR 1.29, 95% CI 1.07-1.55), and in type 1 diabetes mellitus (for T versus G, P = 0.008, OR 1.36, 95% CI 1.07-1.71). In contrast, the genotypic distribution of this polymorphism showed no difference between patients with multiple sclerosis and healthy control subjects (for T versus G, P = 0.83, OR 1.02, 95% CI 0.82-1.28). The STAT4 gene is emerging as a novel common risk factor for diverse complex diseases.

  2. Hypothesis: Do miRNAs Targeting the Leucine-Rich Repeat Kinase 2 Gene (LRRK2) Influence Parkinson's Disease Susceptibility?

    Science.gov (United States)

    Yılmaz, Şenay Görücü; Geyik, Sırma; Neyal, Ayşe Münife; Soko, Nyarai D; Bozkurt, Hakan; Dandara, Collet

    2016-04-01

    Parkinson's disease (PD) is a frequently occurring neurodegenerative motor disorder adversely impacting global health. There is a paucity of biomarkers and diagnostics that can forecast susceptibility to PD. A new research frontier for PD pathophysiology is the study of variations in microRNA (miRNA) expression whereby miRNAs serve as "upstream regulators" of gene expression in relation to functioning of the dopamine neuronal pathways. Leucine-Rich Repeat Kinase 2 (LRRK2) is a frequently studied gene in PD. Little is known about the ways in which expression of miRNAs targeting LRKK2 impact PD susceptibility. In a sample of 204 unrelated subjects (102 persons with PD and 102 healthy controls), we report here candidate miRNA expression in whole blood samples as measured by real-time PCR (hsa-miR-4671-3p, hsa-miR-335-3p, hsa-miR-561-3p, hsa-miR-579-3p, and hsa-miR-3143) that target LRRK2. Using step-wise logistic regression, and controlling for covariates such as age, gender, PD disease severity, concomitant medications, and co-morbidity, we found that the combination of has-miR-335-3p, has-miR-561-3p, and has-miR-579-3p account for 50% of the variation in regards to PD susceptibility (p<0.0001). Notably, the hsa-miR-561-3p expression was the most robust predictor of PD in both univariate and multivariate analyses (p<0.001). Moreover, the biological direction (polarity) of the association was plausible in that the candidate miRNAs displayed a diminished expression in patients. This is consistent with the hypothesis that decreased levels of miRNAs targeting LRRK2 might result in a gain of function for LRRK2, and by extension, loss of neuronal viability. To the best of our knowledge, this is the first clinical association study of the above candidate miRNAs' expression in PD using peripheral samples. These observations may guide future clinical diagnostics research on PD.

  3. Genetic susceptibility to pancreatic cancer and its functional characterisation: The PANcreatic Disease ReseArch (PANDoRA) consortium

    Czech Academy of Sciences Publication Activity Database

    Campa, D.; Rizzato, C.; Capurso, G.; Giese, N.; Funel, N.; Greenhalf, W.; Souček, P.; Gazouli, M.; Pezzilli, R.; Pasquali, C.; Talar-Wojnarowska, R.; Cantore, M.; Andriulli, A.; Scarpa, A.; Jamroziak, K.; Delle Fave, G.; Costello, E.; Khaw, K. T.; Heller, A.; Key, T. K.; Theodoropoulos, G.; Malecka-Panas, E.; Mambrini, A.; Bambi, F.; Landi, S.; Pedrazzoli, S.; Bassi, C.; Pacetti, P.; Piepoli, A.; Tavano, F.; di Sebastiano, P.; Vodičková, Ludmila; Basso, D.; Plebani, M.; Fogar, P.; Buechler, M. W.; Bugert, P.; Vodička, Pavel; Boggi, U.; Neoptolemos, J. P.; Werner, J.; Canzian, F.

    2013-01-01

    Roč. 45, č. 2 (2013), s. 95-99 ISSN 1590-8658 Institutional support: RVO:68378041 Keywords : cancer susceptibility * genetic polymorphisms * genetic susceptibility Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.889, year: 2013

  4. Changes to perceptions of the pros and cons of genetic susceptibility testing after APOE genotyping for Alzheimer disease risk

    Science.gov (United States)

    Christensen, Kurt D.; Roberts, J. Scott; Uhlmann, Wendy R.; Green, Robert C.

    2011-01-01

    Purpose Perceptions about the pros and cons of genetic susceptibility testing are among the best predictors of test utilization. How actual testing changes such perceptions has yet to be examined. Methods In a clinical trial, first-degree relatives of patients with Alzheimer disease received genetic risk assessments for Alzheimer disease including APOE disclosure. Participants rated 11 possible benefits associated with genetic testing (pros) and 10 risks or limitations (cons) before genetic risk disclosure and again 12 months afterward. Results Pros were rated higher than cons at baseline (3.53 vs. 1.83, P cons did not change (1.88 vs. 1.83, P = 0.199) except for a three-item discrimination subscale which increased (2.07 vs. 1.92, P = 0.012). Among specific pros and cons, three items related to prevention and treatment changed the most. Conclusion The process of APOE genetic risk assessment for Alzheimer disease sensitizes some to its limitations and the risks of discrimination; however, 1-year after disclosure, test recipients still consider the pros to strongly outweigh the cons. PMID:21270636

  5. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

    Science.gov (United States)

    Bustamante, Jacinta; Boisson-Dupuis, Stéphanie; Abel, Laurent; Casanova, Jean-Laurent

    2014-01-01

    Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, in otherwise healthy individuals with no overt abnormalities in routine hematological and immunological tests. MSMD designation does not recapitulate all the clinical features, as patients are also prone to salmonellosis, candidiasis and tuberculosis, and more rarely to infections with other intramacrophagic bacteria, fungi, or parasites, and even, perhaps, a few viruses. Since 1996, nine MSMD-causing genes, including seven autosomal (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, ISG15, and IRF8) and two X-linked (NEMO, CYBB) genes have been discovered. The high level of allelic heterogeneity has already led to the definition of 18 different disorders. The nine gene products are physiologically related, as all are involved in IFN-γ-dependent immunity. These disorders impair the production of (IL12B, IL12RB1, IRF8, ISG15, NEMO) or the response to (IFNGR1, IFNGR2, STAT1, IRF8, CYBB) IFN-γ. These defects account for only about half the known MSMD cases. Patients with MSMD-causing genetic defects may display other infectious diseases, or even remain asymptomatic. Most of these inborn errors do not show complete clinical penetrance for the case-definition phenotype of MSMD. We review here the genetic, immunological, and clinical features of patients with inborn errors of IFN-γ-dependent immunity. PMID:25453225

  6. The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility.

    Science.gov (United States)

    Charoute, Hicham; Nahili, Halima; Abidi, Omar; Gabi, Khalid; Rouba, Hassan; Fakiri, Malika; Barakat, Abdelhamid

    2014-03-01

    National and ethnic mutation databases provide comprehensive information about genetic variations reported in a population or an ethnic group. In this paper, we present the Moroccan Genetic Disease Database (MGDD), a catalogue of genetic data related to diseases identified in the Moroccan population. We used the PubMed, Web of Science and Google Scholar databases to identify available articles published until April 2013. The Database is designed and implemented on a three-tier model using Mysql relational database and the PHP programming language. To date, the database contains 425 mutations and 208 polymorphisms found in 301 genes and 259 diseases. Most Mendelian diseases in the Moroccan population follow autosomal recessive mode of inheritance (74.17%) and affect endocrine, nutritional and metabolic physiology. The MGDD database provides reference information for researchers, clinicians and health professionals through a user-friendly Web interface. Its content should be useful to improve researches in human molecular genetics, disease diagnoses and design of association studies. MGDD can be publicly accessed at http://mgdd.pasteur.ma.

  7. Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility.

    Science.gov (United States)

    Sugiura, Tomoko; Kawaguchi, Yasushi; Goto, Kanako; Hayashi, Yukiko; Gono, Takahisa; Furuya, Takefumi; Nishino, Ichizo; Yamanaka, Hisashi

    2014-01-01

    Accumulating evidence has shown that several non-HLA genes are involved in the susceptibility to polymyositis/dermatomyositis. This study aimed to investigate the involvement of C8orf13-BLK, one of the strongest candidate genes for autoimmune diseases, in susceptibility to polymyositis/dermatomyositis in the Japanese population. A possible gene-gene interaction between C8orf13-BLK and STAT4, which we recently showed to be associated with Japanese polymyositis/dermatomyositis, was also analyzed. A single-nucleotide polymorphism in C8orf13-BLK (dbSNP ID: rs13277113) was investigated in the Japanese population using a TaqMan assay in 283 polymyositis patients, 194 dermatomyositis patients, and 656 control subjects. The C8orf13-BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (Prs7574865 T alleles had an additive effect on polymyositis/dermatomyositis susceptibility. The strongest association was observed in dermatomyositis, with an OR of 3.07 (95% CI; 1.57-6.02) for the carriers of four risk alleles at the two SNP sites, namely, rs1327713 and rs7574865. This study established C8orf13-BLK as a new genetic susceptibility factor for polymyositis/dermatomyositis. Both C8orf13-BLK and STAT4 exert additive effects on disease susceptibility. These observations suggested that C8orf13-BLK, in combination with STAT4, plays a pivotal role in creating genetic susceptibility to polymyositis/dermatomyositis in Japanese individuals.

  8. Methodological approach for substantiating disease freedom in a heterogeneous small population. Application to ovine scrapie, a disease with a strong genetic susceptibility.

    Science.gov (United States)

    Martinez, Marie-José; Durand, Benoit; Calavas, Didier; Ducrot, Christian

    2010-06-01

    Demonstrating disease freedom is becoming important in different fields including animal disease control. Most methods consider sampling only from a homogeneous population in which each animal has the same probability of becoming infected. In this paper, we propose a new methodology to calculate the probability of detecting the disease if it is present in a heterogeneous population of small size with potentially different risk groups, differences in risk being defined using relative risks. To calculate this probability, for each possible arrangement of the infected animals in the different groups, the probability that all the animals tested are test-negative given this arrangement is multiplied by the probability that this arrangement occurs. The probability formula is developed using the assumption of a perfect test and hypergeometric sampling for finite small size populations. The methodology is applied to scrapie, a disease affecting small ruminants and characterized in sheep by a strong genetic susceptibility defining different risk groups. It illustrates that the genotypes of the tested animals influence heavily the confidence level of detecting scrapie. The results present the statistical power for substantiating disease freedom in a small heterogeneous population as a function of the design prevalence, the structure of the sample tested, the structure of the herd and the associated relative risks. (c) 2010 Elsevier B.V. All rights reserved.

  9. Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases

    Czech Academy of Sciences Publication Activity Database

    Huhn, S.; Bevier, M.; Rudolph, A.; Pardini, Barbara; Naccarati, Alessio; Hein, R.; Hoffmeister, M.; Vodičková, Ludmila; Novotný, J.; Brenner, H.; Chang-Claude, J.; Vodička, Pavel; Hemminki, K.; Försti, A.

    2012-01-01

    Roč. 13, č. 1 (2012), s. 94 ISSN 1471-2350 R&D Projects: GA ČR GAP304/10/1286; GA ČR GAP304/12/1585 Institutional research plan: CEZ:AV0Z50390512 Institutional support: RVO:68378041 Keywords : colorectal cancer * nutrition * complex diseases Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.536, year: 2012

  10. Mucin 5B promoter polymorphism is associated with susceptibility to interstitial lung diseases in Chinese males.

    Directory of Open Access Journals (Sweden)

    Chunli Wang

    Full Text Available The variation of G>T in the MUC5B promoter (rs35705950 has been associated with idiopathic pulmonary fibrosis (IPF and familial interstitial pneumonia (FIP in Caucasians, but no information is available regarding this variant in the Chinese population. We recruited 405 patients with interstitial lung diseases (ILD, including 165 IPF patients and 2043 healthy controls, for genotyping the MUC5B gene in the Chinese population. One hundred three patients with pneumonia and 360 patients with autoimmune diseases (ADs were recruited as disease controls. Our results indicated that the prevalence of the minor allele (T of the polymorphism rs35705950 in healthy Chinese subjects was approximately 0.66%, which was lower than that described in the Caucasian population. The frequencies of the T allele were 3.33% and 2.22% in IPF and ILD patients, respectively, and these values were significantly higher than those of healthy controls (P = 0.001, OR = 4.332 for IPF, and P = 0.002, OR = 2.855 for ILD. A stratified analysis showed that this variant in MUC5B associated with the risk for ILD mainly in older male Chinese subjects. No difference was observed between patients with pneumonia, AD patients, and healthy controls.

  11. Investigations of the ternary system beryllium-carbon-tungsten and analyses of beryllium on carbon surfaces

    International Nuclear Information System (INIS)

    Kost, Florian

    2009-01-01

    Beryllium, carbon and tungsten are planned to be used as first wall materials in the future fusion reactor ITER. The aim of this work is a characterization of mixed material formation induced by thermal load. To this end, model systems (layers) were prepared and investigated, which give insight into the basic physical and chemical concepts. Before investigating ternary systems, the first step was to analyze the binary systems Be/C and Be/W (bottom-up approach), where the differences between the substrates PG (pyrolytic graphite) and HOPG (highly oriented pyrolytic graphite) were of special interest. Particularly X-ray photoelectron spectroscopy (XPS), low energy ion scattering (ISS) and Rutherford backscattering spectroscopy (RBS) were used as analysis methods. Beryllium evaporated on carbon shows an island growth mode, whereas a closed layer can be assumed for layer thicknesses above 0.7 nm. Annealing of the Be/C system induces Be 2 C island formation for T≥770 K. At high temperatures (T≥1170 K), beryllium carbide dissociates, resulting in (metallic) beryllium desorption. For HOPG, carbide formation starts at higher temperatures compared to PG. Activation energies for the diffusion processes were determined by analyzing the decreasing beryllium amount versus annealing time. Surface morphologies were characterized using angle-resolved XPS (ARXPS) and atomic force microscopy (AFM). Experiments were performed to study processes in the Be/W system in the temperature range from 570 to 1270 K. Be 2 W formation starts at 670 K, a complete loss of Be 2 W is observed at 1170 K due to dissociation (and subsequent beryllium desorption). Regarding ternary systems, particularly Be/C/W and C/Be/W were investigated, attaching importance to layer thickness (reservoir) variations. At room temperature, Be 2 C, W 2 C, WC and Be 2 W formation at the respective interfaces was observed. Further Be 2 C is forming with increasing annealing temperatures. Depending on the layer

  12. Deletion of PPAR-γ in immune cells enhances susceptibility to antiglomerular basement membrane disease

    Directory of Open Access Journals (Sweden)

    Cristen Chafin

    2010-10-01

    Full Text Available Cristen Chafin2, Sarah Muse2, Raquel Hontecillas5, Josep Bassaganya-Riera5, David L Caudell2, Samuel K Shimp III4, M Nichole Rylander4, John Zhang6, Liwu Li3, Christopher M Reilly1,21Virginia College of Osteopathic Medicine, 2Department of Biomedical Sciences and Pathobiology, Virginia-Maryland Regional College of Veterinary Medicine, Virginia Polytechnic Institute and State University, Blacksburg, VA, USA; 3Department of Biological Sciences, 4Department of Mechanical Engineering, Virginia Polytechnic Institute and State University, Blacksburg, VA, USA; 5Nutritional Immunology and Molecular Medicine Laboratory, Virginia Bioinformatics Institute, Virginia Polytechnic Institute and State University, Blacksburg, VA, USA; 6Medical University of SC, Charleston, SC, USAAbstract: Activation of the nuclear hormone receptor peroxisome proliferator-activated receptor gamma (PPAR-γ has been shown to be immunoregulatory in autoimmune diseases by inhibiting production of a number of inflammatory mediators. We investigated whether PPAR-γ gene deletion in hematopoietic cells would alter disease pathogenesis in the antiglomerular basement membrane (anti-GBM mouse model. PPAR-γ+/+ and PPAR-γ-/- mice were immunized with rabbit antimouse GBM antibodies and lipopolysaccharide and evaluated for two weeks. Although both the PPAR-γ+/+ and PPAR-γ-/- mice had IgG deposition in the glomerulus and showed proteinuria two weeks after injection, glomerular and tubulointerstitial disease in PPAR-γ-/- mice were significantly more severe compared with the PPAR-γ+/+ animals. We observed that the PPAR-γ-/- mice had decreased CD4+CD25+ regulatory T cells and an increased CD8+:CD4+ ratio as compared with the PPAR-γ+/+ mice, suggesting that PPAR-γ has a role in the regulation of T cells. Furthermore, plasma interleukin-6 levels were significantly increased in the PPAR-γ-/- mice at two weeks as compared with the PPAR-γ+/+ animals. Taken together, these studies show that

  13. Relative susceptibility of Musa genotypes to banana bunchy top disease in Cameroon and implication for disease management

    Science.gov (United States)

    Banana bunchy top disease (BBTD) is a serious threat to banana and plantain (Musa spp.) production. BBTD is caused by the Banana bunchy top virus (BBTV, genus Babuvirus) which is spread through infected plant propagules and banana aphid, Pentalonia nigronervosa. A high level of resistance to BBTD in...

  14. Susceptibility to Laurel Wilt and disease incidence in two rare plant species, Pondberry and Pondspice Plant Disease.

    Science.gov (United States)

    Stephen Fraedrich; T Harrington; C Bates; J Johnson; L. Reid; Glenda Susan Best; T Leininger; Tracy Hawkins

    2011-01-01

    Laurel wilt, caused by Raffaelea lauricola, has been responsible for extensive losses of redbay (Persea borbonia) in South Carolina and Georgia since 2003. Symptoms of the disease have been noted in other species of the Lauraceae such as the federally endangered pondberry (Lindera melissifolia) and the threatened pondspice (Litsea aestivalis). Pondberry and pondspice...

  15. Assessment of the feasibility and advantages of beryllium recycling

    International Nuclear Information System (INIS)

    Druyts, F.; Braet, J.; Ooms, L.

    2006-01-01

    This paper proposes a generic route for the recycling of beryllium from fusion reactors, based on critical issues associated with beryllium pebbles after their service life in the HCPB breeding blanket. These critical issues are the high tritium inventory, the presence of long-lived radionuclides (among which transuranics due to traces of uranium in the base metal), and the chemical toxicity of beryllium. On the basis of the chemical and radiochemical characteristics of the neutron irradiated beryllium pebbles, we describe a possible recycling route. The first step is the detritiation of the material. This can be achieved by heating the pebbles to 800 o C under an argon flow. The argon gas avoids oxidation of the beryllium, and at the proposed temperature the tritium inventory is readily released from the pebbles. In a second step, the released tritium can be oxidised on a copper oxide bed to produce tritiated water, which is consistent with the current international strategy to convert all kinds of tritiated waste into tritiated water, which can subsequently be treated in a water detritiation plant. Removal of radionuclides from the beryllium pebbles may be achieved by several types of chloride processes. The first step is to pass chlorine gas (in an argon flow) over the pebbles, thus yielding volatile BeCl 2 . This beryllium chloride can then be purified by fractional distillation. As a small fraction of the beryllium chloride contains the long-lived 10 Be isotope, 10BeCl 2 has to be separated from 9BeCl 2 , which could be achieved by centrifugal techniques. The product can then be reduced to obtain high-purity metallic beryllium. Two candidate reduction methods were identified: fused salt electrolysis and thermal decomposition. Both these methods require laboratory parametric studies to maximise the yield and achieve a high purity metal, before either process can be upgraded to a larger scale. The eventual product of the chloride reduction process must be a high

  16. Microstructure Analysis on Beryllium Reflector Blocks of Research Reactors

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Suk Hoon; Jang, Jin Sung; Jeong, Yong Hwan; Han, Chang Hee; Jung, Yang Il; Kim, Tae Kyu [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of); Choi, Yong Seok; Oh, Kyu Hwan [Seoul National University, Seoul (Korea, Republic of)

    2012-05-15

    A pure beryllium has a very low mass absorption coefficient: it has been used as the reflector element material in research reactors. The lifetime of beryllium reflector elements usually determined by the swelling: the swelling leads to dimensional change in the reflector frame, which results in bending or cracking of the parts. The mechanical interference in between parts should be avoided; the anisotropy of beryllium also needs to be considered. A beryllium has hexagonal close-pack (HCP) crystal structure, which is inherently anisotropic. It has virtually no ductility in one direction. There are two main aspects in the manufacturing of beryllium which will affect its isotropy, and those are the powder morphology and the consolidation process. Powder metallurgy permits the material to be produced in isotropic and fine-grained form, which overcomes the crystal structure problem by distributing loads in low ductility oriented grains to high ductility oriented grains. There are three representative consolidating methods to make beryllium reflector blocks. Traditionally, most powder-derived grades of beryllium have been consolidated by vacuum hot-pressing (VHP). A column of loose beryllium powder is compacted under vacuum by the pressure of the opposed upper and lower punches, bringing the billet to final density. The VHP process is directional in nature: it contributes to the anisotropy of the material properties. Another consolidating method for beryllium powder is hot isostatic pressing (HIPing), which will enhance its isotropy. During HIPing, The argon gas exerts pressure uniformly in all directions on the can containing the beryllium powder. The HIP process is effective to improve the isotropy of the resulting material as well as refinement of grain sizes. The last consolidating method is hot extrusion (HE). A roughly close packed beryllium is subjected to severe plastic defomation, the grains are refined and the tensile strength is enhanced. Since the material

  17. Status of beryllium study for fusion in RF

    International Nuclear Information System (INIS)

    Khomutov, A.M.; Kupriyanov, I.B.; Markushkin, Yu.E.; Gervash, A.; Kolbasov, B.N.

    2004-01-01

    The main directions of research activities in the field of beryllium application science and technology carried out in Russia during 2001-2003 have been reviewed. The main results of these investigations have been highlighted. First wall and port-limier. The investigation on the actively cooled components with beryllium cladding is under progress objecting on the clarification of their ultimate thermo cycling capabilities. The study of behavior of bulk beryllium and the boundary region of the contact with the cooling structure under the intensive thermo cycling loading and neutron irradiation have been the object of consideration in particular. The works on the optimization and modification of industrial fabrication processes for commercial scaled production of beryllium tile were also under way. The influence of neutron irradiation. The new experimental data on the nuclear properties of several Russian beryllium grades has been obtained. The samples have been subjected to the high neutron dozes. The influence of low temperature (70-200degree C) neutron irradiation on the thermal conductivity has been examined in particular. The interrelations of the helium inventory and temperature of neutron irradiation with tritium release out of irradiated beryllium samples have been analyzed. The beryllium associated safety questions. The experiments on the modeling of normal working conditions and conditions imitating the plasma disruption events in ITER performance scenario have been continued. The new experimental information on the coefficient of pulverization of beryllium and the accumulation of deuterium in beryllium under the action of proton beam has been collected. The dependence of the reaction rate constant for the beryllium oxidation by the water vapor for different conditions has been analyzed. The compact, porous and powder beryllium samples have been tested at the wide range of temperature, pressure and duration of reaction with water vapor. The calculating

  18. Copper-beryllium alloys for technical applications

    International Nuclear Information System (INIS)

    Heller, W.

    1976-01-01

    Data of physical properties are compiled for the most commonly used copper-beryllium alloys (CuBe 2, CuBe 1.7, CuCoBe, and CuCoAgBe), with emphasis on their temperature dependence and their variation with particular annealing and hardening treatments. The purpose is to provide a reference source and to indicate the versatility of these materials with respect to other copper alloys and to pure copper. The special features of CuBe alloys include high mechanical strength with reasonably high electrical conductivity, as well as good wear and corrosion resistance. For example, CuBe 2 has a yield strength of up to 1200 N/mm 2 , about three times that of pure copper, whilst the electrical conductivity of CuCoBe can be as high as 28 MS/m, nearly half that of pure copper. Typical applications are springs and electrical contacts. The importance of a proper heat treatment is discussed in some detail, notably the metallurgy and effects of low-temperature annealing (precipitation-hardening). A chapter on manufacturing processes covers machining, brazing, welding, and cleaning. This is followed by some remarks on safety precautions against beryllium poisoning. CuBe alloys are commercially available in the form of wires, strips, rods, and bars. Typical dimensions, specifications, a brief cost estimate, and addresses of suppliers are listed. (Author)

  19. Development of all-beryllium riveted structures

    International Nuclear Information System (INIS)

    Floyd, D.R.; Leslie, W.W.; Miley, D.V.; Nokes, R.W.

    1976-01-01

    Results are presented of a development program aimed at making a full-scale, all-beryllium frustrum by riveted assembly methods. Included are descriptions of the sheet-metal fabrication practices and assembly plans. Results of extensive mechanical testing of both ingot- and powder-source beryllium products that are presented include tensile, notch-tensile, bearing, and shear tests. Although the full-size structure has not been built, examples are given of several conical and cylindrical structures that were made. The largest of these is a 20-in. diameter, 15-in. long cylinder that was roll-formed from one 0.050-in. thick ingot sheet and assembled with 60 countersunk rivets. Tensile testing of riveted flat coupons is also reported as is bulge testing of riveted cylindrical shells. A cost comparison of riveted deep-drawn and powder-source cylinders is made. Results show that when strength and dimensional tolerance requirements are not severe, a riveted assembly approach is warranted. 33 figures, 8 tables

  20. Charge-density study of crystalline beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Stewart, R F [Carnegie-Mellon Univ., Pittsburgh, Pa. (USA). Dept. of Chemistry

    1977-01-01

    The X-ray structure factors for crystalline beryllium measured by Brown (Phil. Mag. (1972), 26, 1377) have been analyzed with multipole deformation functions for charge-density information. Single exponential radial functions were used for the valence charge density. A valence monopole plus the three harmonics, P/sup 3//sub 5/(cos theta) sin 3phi, P/sub 6/(cos theta) and P/sup 3//sub 7/(cos theta) sin 3phi, provide a least-squares fit to the data with Rsub(w)=0.0081. The superposition of these density functions describes a bonding charge density between Be atoms along the c axis through the tetrahedral vacancy. The results reported here are in qualitative agreement with a recent pseudo-potential calculation of metallic beryllium. The final residuals in the analysis are largest at high sin theta/lambda values. This suggests that core charge deformation is present and/or anharmonic motion of the nuclei is appreciable.

  1. Physical properties of beryllium oxide - Irradiation effects

    International Nuclear Information System (INIS)

    Elston, J.; Caillat, R.

    1958-01-01

    This work has been carried out in view of determining several physical properties of hot-pressed beryllium oxide under various conditions and the change of these properties after irradiation. Special attention has been paid on to the measurement of the thermal conductivity coefficient and thermal diffusivity coefficient. Several designs for the measurement of the thermal conductivity coefficient have been achieved. They permit its determination between 50 and 300 deg. C, between 400 and 800 deg. C. Some measurements have been made above 1000 deg. C. In order to measure the thermal diffusivity coefficient, we heat a perfectly flat surface of a sample in such a way that the heat flux is modulated (amplitude and frequency being adjustable). The thermal diffusivity coefficient is deduced from the variations of temperature observed on several spots. Tensile strength; compressive strength; expansion coefficient; sound velocity and crystal parameters have been also measured. Some of the measurements have been carried out after neutron irradiation. Some data have been obtained on the change of the properties of beryllium oxide depending on the integrated neutron flux. (author) [fr

  2. Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping.

    Directory of Open Access Journals (Sweden)

    Chris Wallace

    2015-06-01

    Full Text Available Identification of candidate causal variants in regions associated with risk of common diseases is complicated by linkage disequilibrium (LD and multiple association signals. Nonetheless, accurate maps of these variants are needed, both to fully exploit detailed cell specific chromatin annotation data to highlight disease causal mechanisms and cells, and for design of the functional studies that will ultimately be required to confirm causal mechanisms. We adapted a Bayesian evolutionary stochastic search algorithm to the fine mapping problem, and demonstrated its improved performance over conventional stepwise and regularised regression through simulation studies. We then applied it to fine map the established multiple sclerosis (MS and type 1 diabetes (T1D associations in the IL-2RA (CD25 gene region. For T1D, both stepwise and stochastic search approaches identified four T1D association signals, with the major effect tagged by the single nucleotide polymorphism, rs12722496. In contrast, for MS, the stochastic search found two distinct competing models: a single candidate causal variant, tagged by rs2104286 and reported previously using stepwise analysis; and a more complex model with two association signals, one of which was tagged by the major T1D associated rs12722496 and the other by rs56382813. There is low to moderate LD between rs2104286 and both rs12722496 and rs56382813 (r2 ≃ 0:3 and our two SNP model could not be recovered through a forward stepwise search after conditioning on rs2104286. Both signals in the two variant model for MS affect CD25 expression on distinct subpopulations of CD4+ T cells, which are key cells in the autoimmune process. The results support a shared causal variant for T1D and MS. Our study illustrates the benefit of using a purposely designed model search strategy for fine mapping and the advantage of combining disease and protein expression data.

  3. Bait and the susceptibility of American lobsters Homarus americanus to epizootic shell disease.

    Science.gov (United States)

    Bethoney, N David; Stokesbury, Kevin D E; Stevens, Bradley G; Altabet, Mark A

    2011-05-24

    Shell disease (SD) has been observed in lobster populations for almost a hundred years, but recently, rates of an epizootic form of shell disease (ESD) have increased in the southern New England (USA) area. A large proportion of fish in the diet of American lobsters Homarus americanus has been linked to increased rates of SD. Therefore, the use of fish as lobster bait may be linked to increased ESD rates in lobsters. Lobsters from the western portion of Martha's Vineyard, MA (41 degrees N, 71 degrees W), were randomly divided into 3 groups of 16 and exposed to dietary treatments (100% herring; 48% crab, 48% blue mussel and 4% plant matter; or 50% herring, 24% crab, 24% mussel, 2% plant matter) to determine if lobster tissue delta15N levels reflected diet. The results of the feeding experiment confirmed that differences in diet are observed in the delta15N levels of lobster muscle tissue. The delta15N levels of tissue samples from 175 wild lobsters with varying degrees of ESD were unrelated to ESD severity but did indicate lobsters were eating large amounts of fish (bait). This result does not support the speculation that fish used as bait is contributing to ESD outbreaks in portions of the southern New England area.

  4. Low brain ascorbic acid increases susceptibility to seizures in mouse models of decreased brain ascorbic acid transport and Alzheimer's disease.

    Science.gov (United States)

    Warner, Timothy A; Kang, Jing-Qiong; Kennard, John A; Harrison, Fiona E

    2015-02-01

    Seizures are a known co-occurring symptom of Alzheimer's disease, and they can accelerate cognitive and neuropathological dysfunction. Sub-optimal vitamin C (ascorbic acid) deficiency, that is low levels that do not lead the sufferer to present with clinical signs of scurvy (e.g. lethargy, hemorrhage, hyperkeratosis), are easily obtainable with insufficient dietary intake, and may contribute to the oxidative stress environment of both Alzheimer's disease and epilepsy. The purpose of this study was to test whether mice that have diminished brain ascorbic acid in addition to carrying human Alzheimer's disease mutations in the amyloid precursor protein (APP) and presenilin 1 (PSEN1) genes, had altered electrical activity in the brain (electroencephalography; EEG), and were more susceptible to pharmacologically induced seizures. Brain ascorbic acid was decreased in APP/PSEN1 mice by crossing them with sodium vitamin C transporter 2 (SVCT2) heterozygous knockout mice. These mice have an approximately 30% decrease in brain ascorbic acid due to lower levels of SVCT2 that supplies the brain with ASC. SVCT2+/-APP/PSEN1 mice had decreased ascorbic acid and increased oxidative stress in brain, increased mortality, faster seizure onset latency following treatment with kainic acid (10 mg/kg i.p.), and more ictal events following pentylenetetrazol (50 mg/kg i.p.) treatment. Furthermore, we report the entirely novel phenomenon that ascorbic acid deficiency alone increased the severity of kainic acid- and pentylenetetrazol-induced seizures. These data suggest that avoiding ascorbic acid deficiency may be particularly important in populations at increased risk for epilepsy and seizures, such as Alzheimer's disease. Copyright © 2014 Elsevier B.V. All rights reserved.

  5. Ion beam assisted deposition of metal-coatings on beryllium

    International Nuclear Information System (INIS)

    Tashlykov, I.S.; Tul'ev, V.V.

    2015-01-01

    Thin films were applied on beryllium substrates on the basis of metals (Cr, Ti, Cu and W) with method of the ion-assisted deposition in vacuum. Me/Be structures were prepared using 20 kV ions irradiation during deposition on beryllium neutral fraction generated from vacuum arc plasma. Rutherford back scattering and computer simulation RUMP code were applied to investigate the composition of the modified beryllium surface. Researches showed that the superficial structure is formed on beryllium by thickness ~ 50-60 nm. The covering composition includes atoms of the deposited metal (0.5-3.3 at. %), atoms of technological impurity carbon (0.8-1.8 at. %) and oxygen (6.3-9.9 at. %), atoms of beryllium from the substrate. Ion assisted deposition of metals on beryllium substrate is accompanied by radiation enhanced diffusion of metals, oxygen atoms in the substrate, out diffusion of beryllium, carbon atoms in the deposited coating and sputtering film-forming ions assists. (authors)

  6. [Correlation between the genetic polymorphisms of apolipoprotein M with the susceptibility to rheumatic diseases of Chinese Han populastion in Lanzhou].

    Science.gov (United States)

    Li, Meiyong; Guo, Xinling; Li, Qiannan; You, Chongge

    2016-08-01

    Objective To investigate the relationship between the genetic polymorphisms of apolipoprotein M (ApoM) and the susceptibility to rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and ankylosing spondylitis (AS) among Chinese Han population in Lanzhou. Methods Primers for the two single nucleotide polymorphism (SNP) sites (rs805296 and rs805297) in ApoM gene were designed and their genotyping methods of polymerase chain reaction-high resolution melting (PCR-HRM) assay were established. Case-control studies were performed among the 599 cases of RA, 194 cases of SLE, 179 cases of AS and 273 matched healthy controls to analyze the correlations between the two SNPs and the susceptibility to rheumatic diseases. Results The genotype frequencies of rs805296 were AA 87.0%, AG 12.7%, GG 0.3% in RA cases, AA 84.5%, AG 15.0%, GG 0.5% in SLE cases, AA 91.6%, AG 7.3%, GG 1.1% in AS cases, AA 85.0%, AG 15.0%, GG 0% in healthy controls. The ones of rs805297 were GG 38.2%, GT 51.8%, TT 10.0% in RA cases, GG 44.3%, GT 45.4%, TT 10.3% in SLE cases, GG 37.4%, GT 47.5%, TT 15.1% in AS cases, GG 40.7%, GT 46.1%, TT 13.2% in healthy controls. Statistical analyses showed that only the genotype distribution of rs805296 was significantly different between the AS cases and the healthy controls. Under the dominant model, the G allele carriers of rs805296 (AG heterozygote and GG homozygote) were found to significantly decrease the risk for AS development. Conclusion The established PCR-HRM genotyping assays in the present study can successfully achieve the molecular diagnosis of the two SNPs sites (rs805296 and rs805297) from clinical samples, and the study found a significant association between the SNP of rs805296 and the susceptibility to AS among Chinese Han population in Lanzhou.

  7. Mutant DD genotype of NFKB1 gene is associated with the susceptibility and severity of coronary artery disease.

    Science.gov (United States)

    Luo, Jun-Yi; Li, Xiao-Mei; Zhou, Yun; Zhao, Qiang; Chen, Bang-Dang; Liu, Fen; Chen, Xiao-Cui; Zheng, Hong; Ma, Yi-Tong; Gao, Xiao-Ming; Yang, Yi-Ning

    2017-02-01

    Nuclear factor κappa B (NF-κB) is an important transcription factor in the development and progression of coronary artery disease (CAD). Recent evidence suggests that -94 ATTG ins/del mutant in the promoter of NFKB1 gene is an essential functional mutant. The present study demonstrated the frequencies of the del/del (DD) genotype and del (D) allele were significantly higher in CAD patients than in controls. CAD patients carrying mutant DD genotype had worse stenosis of diseased coronary arteries compared to those carrying ins/ins (II) or ins/del (ID) genotype. Plasma levels of endothelial nitric oxide synthase (eNOS) were lower, while inflammatory cytokine incnterlukin-6 (IL-6) was higher in CAD patients with DD genotype than those with II or ID genotype (both PDD genotype HUVECs) were more susceptible to H 2 O 2 -induced apoptosis, which was accompanied with a decreased Bcl-2 expression. Further, mutant HUVECs had lower eNOS but higher IL-6 mRNA levels and decreased phosphorylation of eNOS under H 2 O 2 -stimulation (both PDD genotype of NFKB1 gene is associated with the risk and severity of CAD. Dwonregulation of NF-κB p50 subunit leads to exacerbated endothelial dysfunction and apoptosis and enhanced inflammatory response that is the potential underlying mechanism. Copyright © 2017 Elsevier Ltd. All rights reserved.

  8. Molecular and Bioenergetic Differences between Cells with African versus European Inherited Mitochondrial DNA Haplogroups: Implications for Population Susceptibility to Diseases

    Science.gov (United States)

    Kenney, M. Cristina; Chwa, Marilyn; Atilano, Shari R.; Falatoonzadeh, Payam; Ramirez, Claudio; Malik, Deepika; Tarek, Mohamed; Cáceres del Carpio, Javier; Nesburn, Anthony B.; Boyer, David S.; Kuppermann, Baruch D.; Vawter, Marquis P.; Jazwinski, S. Michal; Miceli, Michael V.; Wallace, Douglas C.; Udar, Nitin

    2015-01-01

    The geographic origins of populations can be identified by their maternally inherited mitochondrial DNA (mtDNA) haplogroups. This study compared human cybrids (cytoplasmic hybrids), which are cell lines with identical nuclei but mitochondria from different individuals with mtDNA from either the H haplogroup or L haplogroup backgrounds. The most common European haplogroup is H while individuals of maternal African origin are of the L haplogroup. Despite lower mtDNA copy numbers, L cybrids had higher expression levels for nine mtDNA-encoded respiratory complex genes, decreased ATP turnover rates and lower levels of ROS production, parameters which are consistent with more efficient oxidative phosphorylation. Surprisingly, GeneChip arrays showed that the L and H cybrids had major differences in expression of genes of the canonical complement system (5 genes), dermatan/chondroitin sulfate biosynthesis (5 genes) and CCR3 signaling (9 genes). Quantitative nuclear gene expression studies confirmed that L cybrids had (a) lower expression levels of complement pathway and innate immunity genes and (b) increased levels of inflammation-related signaling genes, which are critical in human diseases. Our data support the hypothesis that mtDNA haplogroups representing populations from different geographic origins may play a role in differential susceptibilities to diseases. PMID:24200652

  9. Association between the length of the MUC8-minisatellite 5 region and susceptibility to chronic obstructive pulmonary disease (COPD).

    Science.gov (United States)

    Lee, Se-Ra; Kim, Won-Tae; Kim, Tae Nam; Nam, Jong Kil; Kim, Woo Jin; Leem, Sun-Hee

    2018-01-01

    In asthma and chronic obstructive pulmonary disease (COPD), mucins display disease-related alterations caused by airway mucus obstruction. MUC5AC, MUC5B and MUC8 are known as the major secretory mucins in human airway epithelial cells. Analysis of mucin genes has identified the presence of several features with a variable number of tandem repeats (VNTR; minisatellites) in the central region of each mucin. In our previous study, six minisatellites in the region of the MUC8 gene were identified, and the MUC8-MS5 minisatellite showed the highest heterozygosity among them. In this study, we evaluated the relationship between MUC8-MS5 and susceptibility to asthma and COPD. A case-control study was performed with 229 controls, 123 COPD cases and 77 asthma cases. A significant association (OR 3.96) between short alleles (2/2 repeats) and the occurrence of COPD was observed [95% confidence interval (CI) 1.32-11.88; p = 0.008]. Hence, the increased frequency of 2/2 homo-short alleles were also found in asthma cases (3.11; CI 0.88-11.05; p = 0.066), though this association was not statistically significant. These results revealed a genetic association between MUC8 and COPD, and that the specific short minisatellite alleles (2/2) of MUC8-MS5 may be a risk factor for COPD.

  10. Matrix metalloproteinase 3 polymorphisms as a potential marker of enhanced susceptibility to lung cancer in chronic obstructive pulmonary disease subjects

    Directory of Open Access Journals (Sweden)

    Kamil Brzóska

    2014-09-01

    Full Text Available [b]Introduction and objective[/b]. Chronic obstructive pulmonary disease (COPD is often accompanied by lung cancer. Among the genes that may play a role in the occurrence of COPD and lung cancer are those encoding the proteolytic enzymes, such as matrix metalloproteinases (MMPs and their tissue inhibitors. The objective of this study was to find MMPs-associated markers useful in the identification of COPD subjects with increased susceptibility to developing lung cancer. [b]Materials and methods[/b]. We compared the frequency of single nucleotide polymorphisms in genes coding for matrix proteinases ([i]MMP1, MMP2, MMP3, MMP9, MMP12[/i] as well as tissue inhibitor of metalloproteinases ([i]TIMP1[/i] in two groups of subjects: COPD patients (54 subjects and COPD patients diagnosed for lung cancer occurrence (53 subjects.The levels of the respective proteins in blood serum were also analyzed. [b]Results[/b]. The frequencies of 2 genotypes, [i]MMP3[/i] rs3025058 and MMP3 rs678815, were significantly different between the studied groups. In both cases, more heterozygotes and less homozygotes (both types were observed in the COPD group than in the COPD + cancer group. A significantly higher TIMP1 level in blood serum was observed in the COPD + cancer group than in the COPD group. There were no statistically significant differences in[i] MMPs[/i] blood levels between the studied groups. In addition, no genotype-associated differences in [i]TIMP1[/i] or[i] MMPs[/i] blood levels were observed. [b]Conclusions[/b]. Homozygocity for [i]MMP3[/i] rs3025058 and rs678815 polymorphisms is a potential marker of enhanced susceptibility to lung cancer development among COPD subjects.

  11. Genetic Ancestry and Susceptibility to Late-Onset Alzheimer Disease (LOAD) in the Admixed Colombian Population.

    Science.gov (United States)

    Moreno, Diana J; Pino, Sebastián; Ríos, Ángela; Lopera, Francisco; Ostos, Henry; Via, Marc; Bedoya, Gabriel

    2017-01-01

    Differences in the prevalence of dementia among populations and in the effect of apolipoprotein E (APOE) on the emergence of Alzheimer disease (AD), which is the main type of dementia, have been reported. This study estimated the ancestry of a group of individuals with late-onset Alzheimer disease (LOAD) (N=280) and established whether there were any differences when compared with a control group (N=357) in a sample of the Colombian population. When the analyses were adjusted for known risk factors such as age, sex, presence of APOE[Latin Small Letter Open E]4, socioeconomic status, educational attainment, and place of birth, African ancestry was associated with an increased LOAD risk (odds ratio: 1.55; 95% confidence interval, 1.09-2.03; P=0.029), whereas Native American ancestry was associated with lower risk (odds ratio: 0.75; 95% confidence interval, 0.61-0.98; P=0.046), for every 10% increase in ancestry. In addition, there were significant differences in the proportion of Native American ancestry between carriers and noncarriers of the APOE[Latin Small Letter Open E]4 allele (Mann-Whitney U test, P=0.047), with noncarriers having higher mean Native American ancestry when compared with carriers. Our results are consistent with the presence of variants of African origin in the genome of the Colombian population and different from APOE[Latin Small Letter Open E]4 that represents a risk factor for the development of LOAD, whereas variants of Native American origin may be conferring protection. However, unknown environmental factors or epigenetic differences among continental groups could also explain the observed associations.

  12. Beryllium-copper reactivity in an ITER joining environment

    International Nuclear Information System (INIS)

    Odegard, B.C.; Cadden, C.H.; Yang, N.Y.C.

    1998-01-01

    Beryllium-copper reactivity was studied using test parameters being considered for use in the ITER reactor. In this application, beryllium-copper tiles are produced using a low-temperature copper-copper diffusion bonding technique. Beryllium is joined to copper by first plating the beryllium with copper followed by diffusion bonding the electrodeposited (ED) copper to a wrought copper alloy (CuNiBe) at 450 C, 1-3 h using a hot isostatic press (HIP). In this bonded assembly, beryllium is the armor material and the CuNiBe alloy is the heat sink material. Interface temperatures in service are not expected to exceed 350 C. For this study, an ED copper-beryllium interface was subjected to diffusion bonding temperatures and times to study the reaction products. Beryllium-copper assemblies were subjected to 350, 450 and 550 C for times up to 200 h. Both BeCu and Be 2 Cu intermetallic phases were detected using scanning electron microscopy and quantitative microprobe analysis. Growth rates were determined experimentally for each phase and activation energies for formation were calculated. The activation energies were 66 mol and 62 kJ mol -1 for the BeCu and Be 2 Cu, respectively. Tensile bars were produced from assemblies consisting of coated beryllium (both sides) sandwiched between two blocks of Hycon-3. Tensile tests were conducted to evaluate the influence of these intermetallics on the bond strength. Failure occurred at the beryllium-copper interface at fracture strengths greater than 300 MPa for the room-temperature tests. (orig.)

  13. Analysis of surface contaminants on beryllium and aluminum windows

    International Nuclear Information System (INIS)

    Gmur, N.F.

    1987-06-01

    An effort has been made to document the types of contamination which form on beryllium window surfaces due to interaction with a synchrotron radiation beam. Beryllium windows contaminated in a variety of ways (exposure to water and air) exhibited surface powders, gels, crystals and liquid droplets. These contaminants were analyzed by electron diffraction, electron energy loss spectroscopy, energy dispersive x-ray spectroscopy and wet chemical methods. Materials found on window surfaces include beryllium oxide, amorphous carbon, cuprous oxide, metallic copper and nitric acid. Aluminum window surface contaminants were also examined

  14. About kinetics of paramagnetic radiation malformations in beryllium ceramics

    International Nuclear Information System (INIS)

    Polyakov, A.I.; Ryabinkin, Yu.A.; Zashkvara, O.V.; Bitenbaev, M.I.; Petukhov, Yu.V.

    1999-01-01

    This paper [1] specifies that γ-radiation of the beryllium-oxide-based ceramics results in development of paramagnetic radiation malformations emerging the ESR spectrum in form of doublet with the splitting rate of oestrasid Δ∼1.6 and g-factor of 2.008. This report presents evaluation outcomes of dependence of paramagnetic radiation malformations concentration in beryllium ceramics on gamma-radiation dose ( 60 Co) within the range of 0-100 Mrad. Total paramagnetic parameters of beryllium ceramics in the range 0-100 Mrad of gamma-radiation dose varied slightly, and were specified by the first type of paramagnetic radiation malformations

  15. Evaluation of the hazard associated with fabricating beryllium copper alloys

    International Nuclear Information System (INIS)

    Senn, T.J.

    1977-01-01

    Beryllium-copper alloys should be considered toxic materials and proper controls must be used when they are machined, heated, or otherwise fabricated. Air samples should be taken for each type of fabrication to determine the worker's exposure and the effectiveness of the controls in use. It has been shown that aerosols containing beryllium are generated during the four methods of fabrication tested, and that these aerosols can be reduced through local exhaust to undetectable levels. Considering the acute, chronic and possibly carcinogenic effects of exposure to beryllium, effective controls should be required because they are feasible both technologically and economically. The health hazards and control measures are reviewed

  16. Preparation of a sinterable beryllium oxide through decomposition of beryllium hydroxide (1963)

    International Nuclear Information System (INIS)

    Bernier, M.

    1963-01-01

    In the course of the present study, we have attempted to precise the factors which among the ones effective in the course of the preparation of the beryllium hydroxide and oxide and during the sintering have an influence on the final result: the density and homogeneity of the sintered body. Of the several varieties of hydroxides precipitated from a sulfate solution the β-hydroxide only is always contaminated with beryllium sulfate and cannot be purified even by thorough washing. We noticed that those varieties of the hydroxide (gel, α, β) have different decomposition rates; this behaviour is used to identify and even to dose the different species in (α, β) mixtures. The various hydroxides transmit to the resulting oxides the shape they had when precipitated. Accordingly the history of the oxide is revealed by its behaviour during its fabrication and sintering. By comparing the results of the sintering operation with the various measurements performed on the oxide powders we are led to the conclusion that an oxide obtained from beryllium hydroxide is sinterable under vacuum if the following conditions are fulfilled: the particle size must lie between 0.1 and 0.2 μ and the BeSO 4 content of the powder must be less than 0.25 per cent wt (expressed as SO 3 /BeO). The best fitting is obtained with the oxide issued from an α-hydroxide precipitated as very small aggregates and with a low sulfur-content. We have observed that this is also the case for the oxide obtained by direct calcination of beryllium sulfate. (author) [fr

  17. Macrophage Migration Inhibitory Factor Polymorphism Is Associated with Susceptibility to Inflammatory Coronary Heart Disease

    Directory of Open Access Journals (Sweden)

    Kangting Ji

    2015-01-01

    Full Text Available Background. Macrophage migration inhibitory factor (MIF is a proinflammatory cytokine. This study explored the association of 173G/C polymorphism of the MIF gene with coronary heart disease (CHD. Methods. Sequencing was carried out after polymerase chain reaction with DNA specimens from 186 volunteers without CHD and 70 patients with CHD. Plasma MIF levels on admission were measured by ELISA. Patients were classified into either stable angina pectoris (SAP or unstable angina pectoris (UAP. Genotype distribution between cases and controls and the association of patients’ genotypes with MIF level and plaque stability were statistically evaluated (ethical approval number: 2012-01. Results. The frequency of the C genotype was higher in CHD patients than in the control (P=0.014. The frequency of the 173*CC genotype was higher in CHD patients than in the control (P=0.005. The plasma MIF level was higher in MIF173*C carriers than in MIF173*G carriers (P=0.033. CHD patients had higher plasma MIF levels than the control (P=0.000. Patients with UAP had higher plasma MIF levels than patients with SAP (P=0.014. Conclusions. These data suggest that MIF −173G/C polymorphism may be related to the development of CHD in a Chinese population. Plasma MIF level is a predictor of plaque stability. This trial is registered with NCT01750502 .

  18. The energy cost of action potential propagation in dopamine neurons: clues to susceptibility in Parkinson's disease.

    Science.gov (United States)

    Pissadaki, Eleftheria K; Bolam, J Paul

    2013-01-01

    Dopamine neurons of the substantia nigra pars compacta (SNc) are uniquely sensitive to degeneration in Parkinson's disease (PD) and its models. Although a variety of molecular characteristics have been proposed to underlie this sensitivity, one possible contributory factor is their massive, unmyelinated axonal arbor that is orders of magnitude larger than other neuronal types. We suggest that this puts them under such a high energy demand that any stressor that perturbs energy production leads to energy demand exceeding supply and subsequent cell death. One prediction of this hypothesis is that those dopamine neurons that are selectively vulnerable in PD will have a higher energy cost than those that are less vulnerable. We show here, through the use of a biology-based computational model of the axons of individual dopamine neurons, that the energy cost of axon potential propagation and recovery of the membrane potential increases with the size and complexity of the axonal arbor according to a power law. Thus SNc dopamine neurons, particularly in humans, whose axons we estimate to give rise to more than 1 million synapses and have a total length exceeding 4 m, are at a distinct disadvantage with respect to energy balance which may be a factor in their selective vulnerability in PD.

  19. Mental disorders across the adult life course and future coronary heart disease: evidence for general susceptibility.

    Science.gov (United States)

    Gale, Catharine R; Batty, G David; Osborn, David P J; Tynelius, Per; Rasmussen, Finn

    2014-01-14

    Depression, anxiety, and psychotic disorders have been associated with an increased risk of coronary heart disease (CHD). It is unclear whether this association between mental health and CHD is present across a wider range of mental disorders. Participants were 1 107 524 Swedish men conscripted at a mean age of 18.3 years. Mental disorders were assessed by psychiatric interview on conscription, and data on hospital admissions for mental disorder and CHD were obtained from national registers during 22.6 years of follow-up. An increased risk of incident CHD was evident across a range of mental disorders whether diagnosed at conscription or on later hospital admission. Age-adjusted hazard ratios (95% confidence intervals) according to diagnoses at conscription ranged from 1.30 (1.05, 1.62) (depressive disorders) to 1.90 (1.58, 2.38) (alcohol-related disorders). [corrected]. The equivalent figures according to diagnoses during hospital admission ranged from 1.49 (1.24-1.80) (schizophrenia) to 2.82 (2.53-3.13) (other substance use disorders). Associations were little changed by adjustment for parental socioeconomic status, or body mass index, diabetes mellitus, and blood pressure measured at conscription, but they were partially attenuated by the adjustment for smoking, alcohol intake, and intelligence measured at conscription, and for education and own socioeconomic position. Increased risk of incident CHD is present across a range of mental disorders and is observable when the disorders are diagnosed at a young age.

  20. Quantitative susceptibility of Streptococcus suis strains isolated from diseased pigs in seven European countries to antimicrobial agents licenced in veterinary medicine

    NARCIS (Netherlands)

    Wisselink, H.J.; Veldman, K.T.; Salmon, S.A.; Mevius, D.J.

    2006-01-01

    The susceptibility of Streptococcus suis strains (n = 384) isolated from diseased pigs in seven European countries to 10 antimicrobial agents was determined. For that purpose a microbroth dilution method was used according to CLSI recommendations. The following antimicrobial agents were tested:

  1. Arterial spin labelling MRI for assessment of cerebral perfusion in children with moyamoya disease: comparison with dynamic susceptibility contrast MRI

    Energy Technology Data Exchange (ETDEWEB)

    Goetti, Robert [University Children' s Hospital Zurich, Department of Diagnostic Imaging, Zurich (Switzerland); University Hospital Zurich, Department of Diagnostic and Interventional Radiology, Zurich (Switzerland); O' Gorman, Ruth [University Children' s Hospital Zurich, Center for MR Research, Zurich (Switzerland); Khan, Nadia [University Children' s Hospital Zurich, Moyamoya Center, Division of Neurosurgery, Department of Surgery, Zurich (Switzerland); Kellenberger, Christian J.; Scheer, Ianina [University Children' s Hospital Zurich, Department of Diagnostic Imaging, Zurich (Switzerland)

    2013-05-15

    This study seeks to evaluate the diagnostic accuracy of cerebral perfusion imaging with arterial spin labelling (ASL) MR imaging in children with moyamoya disease compared to dynamic susceptibility contrast (DSC) imaging. Ten children (7 females; age, 9.2 {+-} 5.4 years) with moyamoya disease underwent cerebral perfusion imaging with ASL and DSC on a 3-T MRI scanner in the same session. Cerebral perfusion images were acquired with ASL (pulsed continuous 3D ASL sequence, 32 axial slices, TR = 5.5 s, TE = 25 ms, FOV = 24 cm, matrix = 128 x 128) and DSC (gradient echo EPI sequence, 35 volumes of 28 axial slices, TR = 2,000 ms, TE = 36 ms, FOV = 24 cm, matrix = 96 x 96, 0.2 ml/kg Gd-DOTA). Cerebral blood flow maps were generated. ASL and DSC images were qualitatively assessed regarding perfusion of left and right ACA, MCA, and PCA territories by two independent readers using a 3-point-Likert scale and quantitative relative cerebral blood flow (rCBF) was calculated. Correlation between ASL and DSC for qualitative and quantitative assessment and the accuracy of ASL for the detection of reduced perfusion per territory with DSC serving as the standard of reference were calculated. With a good interreader agreement ({kappa} = 0.62) qualitative perfusion assessment with ASL and DSC showed a strong and significant correlation ({rho} = 0.77; p < 0.001), as did quantitative rCBF (r = 0.79; p < 0.001). ASL showed a sensitivity, specificity and accuracy of 94 %, 93 %, and 93 % for the detection of reduced perfusion per territory. In children with moyamoya disease, unenhanced ASL enables the detection of reduced perfusion per vascular territory with a good accuracy compared to contrast-enhanced DSC. (orig.)

  2. Novel plasma source for safe beryllium spectral line studies in the presence of beryllium dust

    Science.gov (United States)

    Stankov, B. D.; Vinić, M.; Gavrilović Božović, M. R.; Ivković, M.

    2018-05-01

    Plasma source for beryllium spectral line studies in the presence of beryllium dust particles was realised. The guideline during construction was to prevent exposure to formed dust, considering the toxicity of beryllium. Plasma source characterization through determination of optimal working conditions is described. The necessary conditions for Be spectral line appearance and optimal conditions for line shape measurements are found. It is proven experimentally that under these conditions dust appears coincidently with the second current maximum. The electron density measured after discharge current maximum is determined from the peak separation of the hydrogen Balmer beta spectral line, and the electron temperature is determined from the ratios of the relative intensities of Be spectral lines emitted from successive ionized stages of atoms. Maximum values of electron density and temperature are measured to be 9.3 × 1022 m-3 and 16 800 K, respectively. Construction details and testing of the BeO discharge tube in comparison with SiO2 and Al2O3 discharge tubes are also presented in this paper.

  3. Mental disorders across the adult life course and future coronary heart disease: evidence for general susceptibility

    Science.gov (United States)

    Gale, Catharine R; Batty, G David; Osborn, David P J; Tynelius, Per; Rasmussen, Finn

    2014-01-01

    Background Depression, anxiety and psychotic disorders have been associated with an increased risk of coronary heart disease (CHD). It is unclear whether this association between mental health and CHD is present across a wider range of mental disorders. Methods and Results Participants were 1,107,524 Swedish men conscripted at mean age 18.3 years. Mental disorders were assessed by psychiatric interview on conscription and data on hospital admissions for mental disorder and CHD were obtained from national registers during 22.6 years of follow-up. Increased risk of incident CHD was evident across a range of mental disorders whether diagnosed at conscription or on later hospital admission. Age-adjusted hazard ratios (95% confidence intervals) according to diagnoses at conscription ranged from 1.30 (1.05, 1.60) (depressive disorders) to 1.92 (1.60, 2.31) (alcohol-related disorders). The equivalent figures according to diagnoses during hospital admission ranged from 1.49 (1.24, 1.80) (schizophrenia) to 2.82 (2.53, 3.13) (other substance use disorders). Associations were little changed by adjustment for parental socioeconomic status, or body mass index, diabetes and blood pressure measured at conscription, but were partially attenuated by adjustment for smoking, alcohol intake, and intelligence measured at conscription, and for education and own socioeconomic position. Conclusions Increased risk of incident CHD is present across a range of mental disorders and is observable when disorders are diagnosed at a young age. PMID:24190959

  4. Real-time monitoring of airborne beryllium, at OSHA limit levels, by time-resolved laser-induced breakdown spectroscopy

    International Nuclear Information System (INIS)

    Radziemski, L.J.; Loree, T.R.; Cremers, D.A.

    1982-01-01

    Real-time detection of beryllium particulate is being investigated by the new technique of laser-induced breakdown spectroscopy. For beryllium detection we monitor the 313.1-nm feature of once ionized beryllium (Be II). Numerous publications describe the technique, our beryllium results, and other applications. Here we summarize the important points and describe our experiments with beryllium

  5. Aldosterone synthase gene is not a major susceptibility gene for progression of chronic kidney disease in patients with autosomal dominant polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    Gnanasambandan Ramanathan

    2017-01-01

    Full Text Available Autosomal dominant polycystic kidney disease (ADPKD is the most common heritable kidney disease and is characterized by bilateral renal cysts. Hypertension is a frequent cause of chronic kidney disease (CKD and mortality in patients with ADPKD. The aldosterone synthase gene polymorphisms of the renin-angiotensin-aldosterone system have been extensively studied as hypertension candidate genes. The present study is aimed to investigate the potential modifier effect of CYP11B2 gene on the progression of CKD in ADPKD. One hundred and two ADPKD patients and 106 healthy controls were recruited based on Ravine inclusion and exclusion criteria. The three tag-SNPs within CYP11B2 gene (rs3802230, rs4543, and rs4544 were genotyped using FRET-based KASPar method. Cochran-Armitage trend test was used to assess the potential associations between these polymorphisms and CKD stages. Mantel- Haenszel stratified analysis was used to explore confounding and interaction effects of these polymorphisms. Of the three tag-SNPs genotyped, rs4544 polymorphism was monomorphic and rs3802230 deviated Hardy-Weinberg equilibrium. The CYP11B2 tag-SNPs did not show significant association with ADPKD or CKD. Further, these polymorphisms did not exhibit confounding effect on the relationship between CKD progression and hypertension. Our results suggest that aldosterone synthase gene is not a major susceptibility gene for progression of CKD in South Indian ADPKD patients.

  6. Vitamin D effects on monocytes' CCL-2, IL6 and CD14 transcription in Addison's disease and HLA susceptibility.

    Science.gov (United States)

    Kraus, A U; Penna-Martinez, M; Meyer, G; Badenhoop, K

    2018-03-01

    Addison's disease is a rare autoimmune disorder leading to adrenal insufficiency and life-long glucocorticoid dependency. Vitamin D receptor (VDR) polymorphisms and vitamin D deficiency predispose to Addison's disease. Aim of the current study was, to investigate potential anti-inflammatory vitamin D effects on monocytes in Addison's disease, focusing on inflammatory CCL-2 and IL6, as well on monocyte CD14 markers. Addison's disease is genetically linked to distinct HLA susceptibility alleles. Therefore we analyzed, whether HLA genotypes differed for vitamin D effects on monocyte markers. CD14 + monocytes were isolated from Addison's disease patients (AD, n=13) and healthy controls (HC, n=15) and stimulated with 1,25-dihydroxyvitamin D 3 and IL1β as an inflammatory stimulant. Cells were processed for mRNA expression of CCL-2, IL6 and CD14 and DNA samples were genotyped for major histocompatibility class (MHC) class II-encoded HLA- DQA1-DQB1 haplotypes. We found a downregulation of CCL-2 after vitamin D treatment in IL1β-stimulated monocytes both from AD patients and HC (AD p<0.001; HC p<0.0001). CD14 expression however, was upregulated in both HC and AD patients after vitamin D treatment (p<0.001, respectively). HC showed higher CD14 transcription level than AD patients after vitamin D treatment (p=0.04). Compared to IL1β-induced inflammation, HC have increased CD14 levels after vitamin D treatment (p<0.001), whereas the IL1β-induced CD14 expression of AD patients' monocytes did not change after vitamin D treatment (p=0.8). AD patients carrying HLA high-risk haplotypes showed an increased CCL-2 expression after IL1β-induced inflammation compared to intermediate-risk HLA carriers (p=0.05). Also HC monocytes' CD14 transcription after IL1β and vitamin D co-stimulation differed according to HLA risk profile. We show that vitamin D can exert anti-inflammatory effects on AD patients' monocytes which may be modulated by HLA risk genotypes. Copyright © 2017 Elsevier

  7. Age at Development of Type 1 Diabetes– and Celiac Disease–Associated Antibodies and Clinical Disease in Genetically Susceptible Children Observed From Birth

    OpenAIRE

    Simell, Satu; Hoppu, Sanna; Simell, Tuu; Ståhlberg, Marja-Riitta; Viander, Markku; Routi, Taina; Simell, Ville; Veijola, Riitta; Ilonen, Jorma; Hyöty, Heikki; Knip, Mikael; Simell, Olli

    2010-01-01

    OBJECTIVE To compare the ages and sequence in which antibodies associated with type 1 diabetes and celiac disease appear and overt diseases develop in children with an HLA-conferred susceptibility to both diseases. RESEARCH DESIGN AND METHODS We observed 2,052 children carrying genetic risks for both type 1 diabetes and celiac disease from birth until the median age of 5.7 years and analyzed diabetes- and celiac disease–associated antibodies in serum samples collected at 3- to 12-month interv...

  8. Investigation of the ion beryllium surface interaction

    International Nuclear Information System (INIS)

    Guseva, M.I.; Birukov, A.Yu.; Gureev, V.M.

    1995-01-01

    The self -sputtering yield of the Be was measured. The energy dependence of the Be self-sputtering yield agrees well with that calculated by W. Eckstein et. al. Below 770 K the self-sputtering yield is temperature independent; at T irr .> 870 K it increases sharply. Hot-pressed samples at 370 K were implanted with monoenergetic 5 keV hydrogen ions and with a stationary plasma (flux power ∼ 5 MW/m 2 ). The investigation of hydrogen behavior in beryllium shows that at low doses hydrogen is solved, but at doses ≥ 5x10 22 m -2 the bubbles and channels are formed. It results in hydrogen profile shift to the surface and decrease of its concentration. The sputtering results in further concentration decrease at doses > 10 25 m -2

  9. Polarizabilities of the beryllium clock transition

    International Nuclear Information System (INIS)

    Mitroy, J.

    2010-01-01

    The polarizabilities of the three lowest states of the beryllium atom are determined from a large basis configuration interaction calculation. The polarizabilities of the 2s 2 1 S e ground state (37.73a 0 3 ) and the 2s2p 3 P 0 o metastable state (39.04a 0 3 ) are found to be very similar in size and magnitude. This leads to an anomalously small blackbody radiation shift at 300 K of -0.018(4) Hz for the 2s 2 1 S e -2s2p 3 P 0 o clock transition. Magic wavelengths for simultaneous trapping of the ground and metastable states are also computed.

  10. Primordial beryllium as a big bang calorimeter.

    Science.gov (United States)

    Pospelov, Maxim; Pradler, Josef

    2011-03-25

    Many models of new physics including variants of supersymmetry predict metastable long-lived particles that can decay during or after primordial nucleosynthesis, releasing significant amounts of nonthermal energy. The hadronic energy injection in these decays leads to the formation of ⁹Be via the chain of nonequilibrium transformations: Energy(h)→T, ³He→⁶He, ⁶Li→⁹Be. We calculate the efficiency of this transformation and show that if the injection happens at cosmic times of a few hours the release of O(10 MeV) per baryon can be sufficient for obtaining a sizable ⁹Be abundance. The absence of a plateau structure in the ⁹Be/H abundance down to a O(10⁻¹⁴) level allows one to use beryllium as a robust constraint on new physics models with decaying or annihilating particles.

  11. Advances in beryllium powder consolidation simulations

    International Nuclear Information System (INIS)

    Reardon, B.J.

    1998-01-01

    A fuzzy logic based multiobjective genetic algorithm (GA) is introduced and the algorithm is used to optimize micromechanical densification modeling parameters for warm isopressed beryllium powder, HIPed copper powder and CIPed/sintered and HIPed tantalum powder. In addition to optimizing the main model parameters using the experimental data points as objective functions, the GA provides a quantitative measure of the sensitivity of the model to each parameter, estimates the mean particle size of the powder, and determines the smoothing factors for the transition between stage 1 and stage 2 densification. While the GA does not provide a sensitivity analysis in the strictest sense, and is highly stochastic in nature, this method is reliable and reproducible in optimizing parameters given any size data set and determining the impact on the model of slight variations in each parameter

  12. Preparation of selenium coatings onto beryllium foils

    International Nuclear Information System (INIS)

    Erikson, E.D.; Tassano, P.L.; Reiss, R.H.; Griggs, G.E.

    1984-09-01

    A technique for preparing selenium films onto 50.8 microns thick beryllium foils is described. The selenium was deposited in vacuum from a resistance heated evaporation source. Profilometry measurements of the coatings indicate deposit thicknesses of 5.5, 12.9, 37.5, 49.8 and 74.5 microns. The control of deposition rate and of coating thickness was facilitated using a commercially available closed-loop programmable thin film controller. The x-ray transmission of the coated substrates was measured using a tritiated zirconium source. The transmissivities of the film/substrate combination are presented for the range of energies from 4 to 20 keV. 15 references, 3 figures

  13. The gene-immune-behavioral pathway: Gamma-interferon (IFN-γ) simultaneously coordinates susceptibility to infectious disease and harm avoidance behaviors.

    Science.gov (United States)

    MacMurray, James; Comings, David E; Napolioni, Valerio

    2014-01-01

    Cytokine gene variants are known to influence both infectious disease susceptibility and harm-avoidant behaviors, suggesting that these risk variants may be pleiotropically linked to instinctual disease-avoidant traits. The gamma-interferon (IFNG) +874 T>A polymorphism (rs2430561) is an ideal candidate gene variant for immune-behavioral studies. It is a functional SNP, regulating IFNG mRNA expression; it is known to modulate serotonergic activity and is therefore capable of modifying behavior; and it has previously been associated with increased susceptibility to malaria, tuberculosis, leprosy and Chagas disease. We hypothesized that the infectious disease-high-risk IFNG +874 A-allele would be associated with four personality traits previously reported as behavioral defenses against infection: Harm Avoidance (HA), Extraversion (E), Exploratory Excitability (Exp E), and Openness to Experience (O). We tested this hypothesis in a sample of 168 healthy university students from Southern California genotyped for IFNG +874 T>A and evaluated by the Temperament and Character Inventory-Revised (TCI-R) and the NEO Five-Factor Inventory (NEO-FFI). We found that the infectious disease-high-risk IFNG +874 A-allele was associated with increased HA (P=0.001) and decreased E (P=0.030) and Exp E (P=0.030). These findings suggest that the IFNG +874 A gene variant is linked both to infectious disease susceptibility and to proactive behavioral defenses that reduce infection risk in healthy subjects. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Examining the role of components of Slc11a1 (Nramp1 in the susceptibility of New Zealand sea lions (Phocarctos hookeri to disease.

    Directory of Open Access Journals (Sweden)

    Amy J Osborne

    Full Text Available The New Zealand sea lion (NZSL, Phocarctos hookeri is a Threatened marine mammal with a restricted distribution and a small, declining, population size. The species is susceptible to bacterial pathogens, having suffered three mass mortality events since 1998. Understanding the genetic factors linked to this susceptibility is important in mitigating population decline. The gene solute carrier family 11 member a1 (Slc11a1 plays an important role in mammalian resistance or susceptibility to a wide range of bacterial pathogens. At present, Slc11a1 has not been characterised in many taxa, and despite its known roles in mediating the effects of infectious disease agents, has not been examined as a candidate gene in susceptibility or resistance in any wild population of conservation concern. Here we examine components of Slc11a1 in NZSLs and identify: i a polymorphic nucleotide in the promoter region; ii putative shared transcription factor binding motifs between canids and NZSLs; and iii a conserved polymorphic microsatellite in the first intron of Slc11a1, which together suggest conservation of Slc11a1 gene structure in otariids. At the promoter polymorphism, we demonstrate a shift away from normal allele frequency distributions and an increased likelihood of death from infectious causes with one allelic variant. While this increased likelihood is not statistically significant, lack of significance is potentially due to the complexity of genetic susceptibility to disease in wild populations. Our preliminary data highlight the potential significance of this gene in disease resistance in wild populations; further exploration of Slc11a1 will aid the understanding of susceptibility to infection in mammalian species of conservation significance.

  15. Electron microscope study of irradiated beryllium oxide

    International Nuclear Information System (INIS)

    Bisson, A.A.

    1965-06-01

    The beryllium oxide is studied first by fractography, before and after irradiation, using sintered samples. The fractures are examined under different aspects. The higher density sintered samples, with transgranular fractures are the most interesting for a microscopic study. It is possible to mark the difference between the 'pores' left by the sintering process and the 'bubbles' of gases that can be produced by former thermal treatments. After irradiation, the grain boundaries are very much weakened. By annealing, it is possible to observe the evolution of the gases produced by the reaction (n, 2n) and (n. α) and gathered on the grain boundaries. The irradiated beryllium oxide is afterwards studied by transmission. For that, a simple method has been used: little chips of the crushed material are examined. Clusters of point defects produced by neutrons are thus detected in crystals irradiated at the three following doses: 6 x 10 19 , 9 x 10 19 and 2 x 10 20 n f cm -2 at a temperature below 100 deg. C. For the irradiation at 6 x 10 19 n f cm -2 , the defects are merely visible, but at 2 x l0 20 n f cm -2 the crystals an crowded with clusters and the Kikuchi lines have disappeared from the micro-diffraction diagrams. The evolution of the clusters into dislocation loops is studied by a series of annealings. The activation energy (0,37 eV) calculated from the annealing curves suggests that it must be interstitials that condense into dislocation loops. Samples irradiated at high temperatures (650, 900 and 1100 deg. C) are also studied. In those specimens the size of the loops is not the same as the equilibrium size obtained after out of pile annealing at the same temperature. Those former loops are more specifically studied and their Burgers vector is determined by micro-diffraction. (author) [fr

  16. New facility for post irradiation examination of neutron irradiated beryllium

    International Nuclear Information System (INIS)

    Ishitsuka, Etsuo; Kawamura, Hiroshi

    1995-01-01

    Beryllium is expected as a neutron multiplier and plasma facing materials in the fusion reactor, and the neutron irradiation data on properties of beryllium up to 800 degrees C need for the engineering design. The acquisition of data on the tritium behavior, swelling, thermal and mechanical properties are first priority in ITER design. Facility for the post irradiation examination of neutron irradiated beryllium was constructed in the hot laboratory of Japan Materials Testing Reactor to get the engineering design data mentioned above. This facility consist of the four glove boxes, dry air supplier, tritium monitoring and removal system, storage box of neutron irradiated samples. Beryllium handling are restricted by the amount of tritium;7.4 GBq/day and 60 Co;7.4 MBq/day

  17. Deuterium permeation and diffusion in high-purity beryllium

    International Nuclear Information System (INIS)

    Abramov, E.; Riehm, M.P.; Thompson, D.A.; Smeltzer, W.W.

    1990-01-01

    The permeation rate of deuterium through high-purity beryllium membranes was measured using the gas-driven permeation technique. The time-dependent and the steady-state deuterium flux data were analyzed and the effective diffusivities of the samples were determined. Using multilayer permeation theory the effects of surface oxide were eliminated and the diffusion coefficients of the bulk beryllium determined. The diffusion parameters obtained for the extra-grade beryllium samples (99.8%) are D 0 =6.7x10 -9 m 2 /s and E D =28.4 kJ/mol. For the high-grade beryllium samples (99%) the parameters are D 0 =8.0x10 -9 m 2 /s and E D =35.1 kJ/mol. (orig.)

  18. Deuterium permeation and diffusion in high purity beryllium

    International Nuclear Information System (INIS)

    Abramov, E.

    1990-05-01

    The permeation rate of deuterium through high-purity beryllium membranes was measured using the gas-driven permeation technique. The time-dependent and the steady-state deuterium flux data were analyzed and the effective diffusivities of the samples were determined. A multilayer permeation theory was used in order to eliminate the surface oxide effects and the diffusion coefficients of the bulk beryllium were determined. The diffusion parameters obtained for the extra-grade beryllium samples (99.8%) are D 0 = 6.7 x 10 -9 [m 2 /s] and E D = 28.4 [KJ/mol]; and for the high-grade beryllium samples (99%) the parameters are D 0 = 8.0 x 10 -9 [m 2 /s] and E D = 35.1 [KJ/mol

  19. Spectrochemical determination of beryllium and lithium in stream sediments

    International Nuclear Information System (INIS)

    Gallimore, D.L.; Hues, A.D.; Palmer, B.A.; Cox, L.E.; Simi, O.R.; Bieniewski, T.M.; Steinhaus, D.W.

    1979-11-01

    A spectrochemical method was developed to analyze 200 or more samples of stream sediments per day for beryllium and lithium. One part of ground stream sediment is mixed with two parts graphite-SiO 2 buffer, packed into a graphite electrode, and excited in a direct-current arc. The resulting emission goes to a 3.4-m, direct-reading, Ebert spectrograph. A desk-top computer system is used to record and process the signals, and to report the beryllium and lithium concentrations. The limits of detection are 0.2 μg/g for beryllium and 0.5 μg/g for lithium. For analyses of prepared reference materials, the relative standard deviations were 16% for determining 0.2 to 100 μg/g of beryllium and 15% for determining 0.5 to 500 μg/g of lithium. A correction is made for vanadium interference

  20. Electropolishing or chemical milling of beryllium to remove machining defects

    International Nuclear Information System (INIS)

    Helms, J.R.

    1975-12-01

    The techniques of electropolishing and chemical milling to remove machine damage from beryllium are compared. Both techniques are found to be effective; chemical milling is recommended because it is easier to use and control

  1. Beryllium brazing considerations in CANDU fuel bundle manufacture

    International Nuclear Information System (INIS)

    Harmsen, J.; Pant, A.; Lewis, B.J.; Thompson, W.T.

    2010-01-01

    'Full text:' Appendages of CANDU fuel bundle elements are currently joined to zircaloy sheaths by vacuum beryllium brazing. Ongoing environmental and workplace concerns about beryllium combined with the continuous efforts by Cameco Fuel Manufacturing in its improvement process, initiated this study to find a substitute for pure beryllium. The presentation will review the necessary functionality of brazing alloy components and short list a series of alloys with the potential to duplicate the performance of pure beryllium. Modifications to current manufacturing processes based on in-plant testing will be discussed in relation to the use of these alloys. The presentation will conclude with a summary of the progress to date and further testing expected to be necessary.

  2. Health effects of beryllium exposure: a literature review

    National Research Council Canada - National Science Library

    Committee on Beryllium Alloy Exposures, Committee on Toxicology, National Research Council

    2007-01-01

    Beryllium is an important metal that is used in a number of industries-including the defense, aerospace, automotive, medical, and electronics industries-because of its exceptional strength, stability...

  3. Phosphorus-containing azo compounds as analytical reagents for beryllium

    International Nuclear Information System (INIS)

    Lisenko, N.F.; Dolzhnikova, E.N.; Petrova, G.S.; Tsvetkov, E.N.; Vsesoyuznyj Nauchno-Issledovatel'skij Inst. Khimicheskikh Reaktivov i Osobo Chistykh Veshchestv, Moscow; AN SSSR, Moscow. Inst. Ehlementoorganicheskikh Soedinenij)

    1979-01-01

    The interaction of beryllium with six new azocompounds based on chromotropic or R-acids and o-aminophenyl-phenylphosphonic acids is studied. A sharp difference in the detection limit for beryllium by the two groups of compounds is found. Azoderivatives based on chromotropic acid are promising agent for beryllium due to sufficiently high selectivity. The introduction of the methyl-group into the o-position of the phosphorus-containing group improves the analytical properties of agents. Techniques are developed for the determination of beryllium in bronze, sewage water and in an artificial mixture using a sodium salt of 1.8-dioxi-2 [2' - (oxi- (o-methylphenyl)-phosphenyl)-phenilazo]-naphtalene-3.6-disulfoacid

  4. Beryllium armour produced by evaporation-condensation technique

    International Nuclear Information System (INIS)

    Anisimov, A.; Frolov, V.; Moszherin, S.; Pepekin, G.; Pirogov, A.; Komarov, V.; Mazul, I.

    1997-01-01

    Beryllium, as armour material for ITER plasma facing components, has a limited erosion lifetime. In order to repair the surface of eroded tiles in-situ, Be-deposition technologies are under consideration. One of them uses the physical vapour deposition of beryllium on copper or beryllium substrate produced by a hot Be-target placed in the vicinity of this substrate. Three different options for using this technology for ITER Be-armour application are considered. The first option is the repair in-situ of eroded Be-tiles. The second option suggests the use of this technology to provide the joining of Be to Cu-substrate. The third option assumes the use of evaporated-condensed beryllium as a bulk tile material bonded to copper substrate by conventional joining (Brazing et al.) techniques. The first results and prospects of these approaches are presented below. (orig.)

  5. Further investigation of the role of HLA-DPB1 in adult Hodgkin's disease (HD) suggests an influence on susceptibility to different HD subtypes.

    OpenAIRE

    Taylor, G.M.; Gokhale, D.A.; Crowther, D.; Woll, P.J.; Harris, M.; Ryder, D.; Ayres, M.; Radford, J.A.

    1999-01-01

    It has been suggested in a number of studies that susceptibility to adult Hodgkin's disease (HD) is influenced by the HLA class II region, and specifically by alleles at the HLA-DPB1 locus. Since HD is diagnostically complex, it is not clear whether different HLA-DPB1 alleles confer susceptibility to different HD subtypes. To clarify this we have extended a previous study to type DPB1 alleles in 147 adult HD patients from a single centre. We have analysed patients with nodular sclerosing (NS)...

  6. Sporadic Creutzfeldt-Jakob Disease: Prion Pathology in Medulla Oblongata-Possible Routes of Infection and Host Susceptibility.

    Science.gov (United States)

    Iacono, Diego; Ferrari, Sergio; Gelati, Matteo; Zanusso, Gianluigi; Mariotto, Sara; Monaco, Salvatore

    2015-01-01

    Sporadic Creutzfeldt-Jakob disease (sCJD), the most frequent human prion disorder, is characterized by remarkable phenotypic variability, which is influenced by the conformation of the pathologic prion protein and the methionine/valine polymorphic codon 129 of the prion protein gene. While the etiology of sCJD remains unknown, it has been hypothesized that environmental exposure to prions might occur through conjunctival/mucosal contact, oral ingestion, inhalation, or simultaneous involvement of the olfactory and enteric systems. We studied 21 subjects with definite sCJD to assess neuropathological involvement of the dorsal motor nucleus of the vagus and other medullary nuclei and to evaluate possible associations with codon 129 genotype and prion protein conformation. The present data show that prion protein deposition was detected in medullary nuclei of distinct sCJD subtypes, either valine homozygous or heterozygous at codon 129. These findings suggest that an "environmental exposure" might occur, supporting the hypothesis that external sources of contamination could contribute to sCJD in susceptible hosts. Furthermore, these novel data could shed the light on possible causes of sCJD through a "triple match" hypothesis that identify environmental exposure, host genotype, and direct exposure of specific anatomical regions as possible pathogenetic factors.

  7. Non-Motor Symptom Burdens Are Not Associated with Iron Accumulation in Early Parkinson's Disease: a Quantitative Susceptibility Mapping Study.

    Science.gov (United States)

    Shin, Chaewon; Lee, Seon; Lee, Jee Young; Rhim, Jung Hyo; Park, Sun Won

    2018-03-26

    Quantitative susceptibility mapping (QSM) has been used to measure iron accumulation in the deep nuclei of patients with Parkinson's disease (PD). This study examined the relationship between non-motor symptoms (NMSs) and iron accumulation in the deep nuclei of patients with PD. The QSM data were acquired from 3-Tesla magnetic resonance imaging (MRI) in 29 patients with early PD and 19 normal controls. The Korean version of the NMS scale (K-NMSS) was used for evaluation of NMSs in patients. The patients were divided into high NMS and low NMS groups. The region-of-interest analyses were performed in the following deep nuclei: red nucleus, substantia nigra pars compacta, substantia nigra pars reticulata, dentate nucleus, globus pallidus, putamen, and head of the caudate nucleus. Thirteen patients had high NMS scores (total K-NMSS score, mean = 32.1), and 16 had low NMS scores (10.6). The QSM values in the deep were not different among the patients with high NMS scores, low NMS scores, and controls. The QSM values were not correlated linearly with K-NMSS total score after adjusting the age at acquisition of brain MRI. The study demonstrated that the NMS burdens are not associated with iron accumulation in the deep nuclei of patients with PD. These results suggest that future neuroimaging studies on the pathology of NMSs in PD should use more specific and detailed clinical tools and recruit PD patients with severe NMSs. © 2018 The Korean Academy of Medical Sciences.

  8. Data Needs for Erosion and Tritium Retention in Beryllium Surfaces

    International Nuclear Information System (INIS)

    Braams, B.J.

    2011-07-01

    A Consultants' Meeting was held at IAEA Headquarters 30-31 May 2011 with the aim to provide advice about the scope and aims of a planned IAEA coordinated research project on erosion and tritium retention in beryllium plasma-facing materials and about other activities of the A+M Data Unit in the area of plasma interaction with beryllium surfaces. The present report contains the proceedings, recommendations and conclusions of that Consultants' Meeting. (author)

  9. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.

    Directory of Open Access Journals (Sweden)

    Fuu-Jen Tsai

    Full Text Available Kawasaki disease (KD is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has the third-highest incidence of KD in the world, after Japan and Korea. To investigate novel mechanisms that might predispose individuals to KD, we conducted a genome-wide association study (GWAS in 250 KD patients and 446 controls in a Han Chinese population residing in Taiwan, and further validated our findings in an independent Han Chinese cohort of 208 cases and 366 controls. The most strongly associated single-nucleotide polymorphisms (SNPs detected in the joint analysis corresponded to three novel loci. Among these KD-associated SNPs three were close to the COPB2 (coatomer protein complex beta-2 subunit gene: rs1873668 (p = 9.52×10⁻⁵, rs4243399 (p = 9.93×10⁻⁵, and rs16849083 (p = 9.93×10⁻⁵. We also identified a SNP in the intronic region of the ERAP1 (endoplasmic reticulum amino peptidase 1 gene (rs149481, p(best = 4.61×10⁻⁵. Six SNPs (rs17113284, rs8005468, rs10129255, rs2007467, rs10150241, and rs12590667 clustered in an area containing immunoglobulin heavy chain variable regions genes, with p(best-values between 2.08×10⁻⁵ and 8.93×10⁻⁶, were also identified. This is the first KD GWAS performed in a Han Chinese population. The novel KD candidates we identified have been implicated in T cell receptor signaling, regulation of proinflammatory cytokines, as well as antibody-mediated immune responses. These findings may lead to a better understanding of the underlying molecular pathogenesis of KD.

  10. The beryllium production at Ulba metallurgical plant (Ust-Kamenogrsk, Kazakhstan)

    Energy Technology Data Exchange (ETDEWEB)

    Dvinskykh, E.M.; Savchuk, V.V.; Tuzov, Y.V. [Ulba Metallurgical Plant (Zavod), Ust-Kamenogorsk, Abay prospect 102 (Kazakhstan)

    1998-01-01

    The Report includes data on beryllium production of Ulba metallurgical plant, located in Ust-Kamenogorsk (Kazakhstan). Beryllium production is showed to have extended technological opportunities in manufacturing semi-products (beryllium ingots, master alloys, metallic beryllium powders, beryllium oxide) and in production of structural beryllium and its parts. Ulba metallurgical plant owns a unique technology of beryllium vacuum distillation, which allows to produce reactor grades of beryllium with a low content of metallic impurities. At present Ulba plant does not depend on raw materials suppliers. The quantity of stored raw materials and semi-products will allow to provide a 25-years work of beryllium production at a full capacity. The plant has a satisfactory experience in solving ecological problems, which could be useful in ITER program. (author)

  11. Genome editing of the disease susceptibility gene CsLOB1 in citrus confers resistance to citrus canker.

    Science.gov (United States)

    Jia, Hongge; Zhang, Yunzeng; Orbović, Vladimir; Xu, Jin; White, Frank F; Jones, Jeffrey B; Wang, Nian

    2017-07-01

    Citrus is a highly valued tree crop worldwide, while, at the same time, citrus production faces many biotic challenges, including bacterial canker and Huanglongbing (HLB). Breeding for disease-resistant varieties is the most efficient and sustainable approach to control plant diseases. Traditional breeding of citrus varieties is challenging due to multiple limitations, including polyploidy, polyembryony, extended juvenility and long crossing cycles. Targeted genome editing technology has the potential to shorten varietal development for some traits, including disease resistance. Here, we used CRISPR/Cas9/sgRNA technology to modify the canker susceptibility gene CsLOB1 in Duncan grapefruit. Six independent lines, D LOB 2, D LOB 3, D LOB 9, D LOB 10, D LOB 11 and D LOB 12, were generated. Targeted next-generation sequencing of the six lines showed the mutation rate was 31.58%, 23.80%, 89.36%, 88.79%, 46.91% and 51.12% for D LOB 2, D LOB 3, D LOB 9, D LOB 10, D LOB 11 and D LOB 12, respectively, of the cells in each line. D LOB 2 and D LOB 3 showed canker symptoms similar to wild-type grapefruit, when inoculated with the pathogen Xanthomonas citri subsp. citri (Xcc). No canker symptoms were observed on D LOB 9, D LOB 10, D LOB 11 and D LOB 12 at 4 days postinoculation (DPI) with Xcc. Pustules caused by Xcc were observed on D LOB 9, D LOB 10, D LOB 11 and D LOB 12 in later stages, which were much reduced compared to that on wild-type grapefruit. The pustules on D LOB 9 and D LOB 10 did not develop into typical canker symptoms. No side effects and off-target mutations were detected in the mutated plants. This study indicates that genome editing using CRISPR technology will provide a promising pathway to generate disease-resistant citrus varieties. © 2016 The Authors. Plant Biotechnology Journal published by Society for Experimental Biology and The Association of Applied Biologists and John Wiley & Sons Ltd.

  12. In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.

    Science.gov (United States)

    Mercer, Stephen W; Wang, Jianbin; Burke, Richard

    2017-03-10

    Copper is an essential biometal, and several inherited diseases are directly associated with a disruption to normal copper homeostasis. The best characterized are the copper deficiency and toxicity disorders Menkes and Wilson diseases caused by mutations in the p-type Cu-ATPase genes ATP7A and ATP7B , respectively. Missense mutations in the C-terminal portion of ATP7A have also been shown to cause distal motor neuropathy, whereas polymorphisms in ATP7B are associated with increased risk of Alzheimer's disease. We have generated a single, in vivo model for studying multiple pathogenic mutations in ATP7 proteins using Drosophila melanogaster , which has a single orthologue of ATP7A and ATP7B. Four pathogenic ATP7A mutations and two ATP7B mutations were introduced into a genomic ATP7 rescue construct containing an in-frame C-terminal GFP tag. Analysis of the wild type ATP7-GFP transgene confirmed that ATP7 is expressed at the basolateral membrane of larval midgut copper cells and that the transgene can rescue a normally early lethal ATP7 deletion allele to adulthood. Analysis of the gATP7-GFP transgenes containing pathogenic mutations showed that the function of ATP7 was affected, to varying degrees, by all six of the mutations investigated in this study. Of particular interest, the ATP7B K832R Alzheimer's disease susceptibility allele was found, for the first time, to be a loss of function allele. This in vivo system allows us to assess the severity of individual ATP7A / B mutations in an invariant genetic background and has the potential to be used to screen for therapeutic compounds able to restore function to faulty copper transport proteins. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.

  13. A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans.

    Science.gov (United States)

    Pazderska, Agnieszka; Oftedal, Bergithe E; Napier, Catherine M; Ainsworth, Holly F; Husebye, Eystein S; Cordell, Heather J; Pearce, Simon H S; Mitchell, Anna L

    2016-11-01

    Autoimmune Addison's disease (AAD) is a rare but highly heritable condition. The BACH2 protein plays a crucial role in T lymphocyte maturation, and allelic variation in its gene has been associated with a number of autoimmune conditions. We aimed to determine whether alleles of the rs3757247 single nucleotide polymorphism (SNP) in the BACH2 gene are associated with AAD. This case-control association study was performed in two phases using Taqman chemistry. In the first phase, the rs3757247 SNP was genotyped in 358 UK AAD subjects and 166 local control subjects. Genotype data were also available from 5154 healthy UK controls from the Wellcome Trust (WTCCC2) for comparison. In the second phase, the SNP was genotyped in a validation cohort comprising 317 Norwegian AAD subjects and 365 controls. The frequency of the minor T allele was significantly higher in subjects with AAD from the United Kingdom compared to both the local and WTCCC2 control cohorts (58% vs 45 and 48%, respectively) (local controls, P = 1.1 × 10 -4 ; odds ratio [OR], 1.68; 95% confidence interval [CI], 1.29-2.18; WTCCC2 controls, P = 1.4 × 10 -6 ; OR, 1.44; 95% CI, 1.23-1.69). This finding was replicated in the Norwegian validation cohort (P = .0015; OR, 1.41; 95% CI, 1.14-1.75). Subgroup analysis showed that this association is present in subjects with both isolated AAD (OR, 1.53; 95% CI, 1.22-1.92) and autoimmune polyglandular syndrome type 2 (OR, 1.37; 95% CI, 1.12-1.69) in the UK cohort, and with autoimmune polyglandular syndrome type 2 in the Norwegian cohort (OR, 1.58; 95% CI, 1.22-2.06). We have demonstrated, for the first time, that allelic variability at the BACH2 locus is associated with susceptibility to AAD. Given its association with multiple autoimmune conditions, BACH2 can be considered a "universal" autoimmune susceptibility locus.

  14. Impurities effect on the swelling of neutron irradiated beryllium

    International Nuclear Information System (INIS)

    Donne, M.D.; Scaffidi-Argentina, F.

    1995-01-01

    An important factor controlling the swelling behaviour of fast neutron irradiated beryllium is the impurity content which can strongly affect both the surface tension and the creep strength of this material. Being the volume swelling of the old beryllium (early sixties) systematically higher than that of the more modem one (end of the seventies), a sensitivity analysis with the aid of the computer code ANFIBE (ANalysis of Fusion Irradiated BEryllium) to investigate the effect of these material properties on the swelling behaviour of neutron irradiated beryllium has been performed. Two sets of experimental data have been selected: the first one named Western refers to quite recently produced Western beryllium, whilst the second one, named Russian refers to relatively old (early sixties) Russian beryllium containing a higher impurity rate than the Western one. The results obtained with the ANFIBE Code were assessed by comparison with experimental data and the used material properties were compared with the data available in the literature. Good agreement between calculated and measured values has been found

  15. Thermogravimetric analysis of the beryllium/steam reaction

    Energy Technology Data Exchange (ETDEWEB)

    Druyts, Frank E-mail: fdruyts@sckcen.be; Iseghem, Pierre van

    2000-11-01

    In view of the safety assessment of new fusion reactor designs, kinetic data are needed on the beryllium/steam reaction. Therefore, thermogravimetric analysis was used to determine the reactivity of beryllium in steam as a function of temperature, irradiation history and porosity of the samples. To this purpose, reference unirradiated S-200 VHP beryllium samples were compared with specimens irradiated in the BR2 reactor up to fast neutron fluences (E>1 MeV) of respectively 1.6x10{sup 21} n cm{sup -2} (resulting in a helium content of 300 appm He and a theoretical density of 99.9%) and 4x10{sup 22} n cm{sup -2} (21000 appm He, 97.2% theoretical density). Kinetics were parabolic for all tested beryllium types at 600 deg. C. At 700 deg. C, kinetics were parabolic for the unirradiated and irradiated 99.9% dense beryllium, and accelerating/linear for the irradiated 97.2% material. At 800 deg. C, all samples showed accelerating/linear behaviour. There was no influence of porosity on the reaction rate of beryllium in steam within the limited investigated density range, except at 700 deg. C, where the measured reaction rate for the irradiated 97.2% dense samples is an order of magnitude higher than for the irradiated 99.9% dense specimens.

  16. Status of beryllium R and D in Japan

    International Nuclear Information System (INIS)

    Kawamura, H.; Ishida, K.

    2004-01-01

    Recently, several R and D program of beryllium for fusion are being promoted in Japan and community of beryllium study is growing up. In the R and D area of beryllium for solid breeding blanket, major subjects are beryllide application for prototype reactor, lifetime evaluation of neutron multiplier, impurity effect of beryllium and recycling of irradiated beryllium. Especially, the study of beryllide application has significant progress in these two years. The basic properties such as tritium inventory, oxidation behavior, steam interaction for stoichiometric Be 12 Ti fabricated by HIP (Hot Isostatic Pressing) have been studied and some advantages against beryllium were made clear. For manufacturing technology development, phase diagram and ductility improvement have been studied. And, Be 12 Ti pebbles with the improved microstructure were successfully fabricated by Rotating Electrode Process. In order to enhance the R and D activities, the R and D network consisted of industries, universities and laboratories in all Japan have been organized. Many collaboration and information exchange strongly promotes the R and D and some projects for commercial application have been launched form these activities. Also international collaborative project such as IEA and ISTC have been launched or planned. Recent result of R and D in Japan is described on this paper. (author)

  17. Activity of pradofloxacin against Porphyromonas and Prevotella spp. Implicated in periodontal disease in dogs: susceptibility test data from a European multicenter study.

    Science.gov (United States)

    Stephan, Bernd; Greife, Heinrich A; Pridmore, Andrew; Silley, Peter

    2008-06-01

    Collaborating veterinarians from five European countries collected subgingival bacterial samples from dogs exhibiting clinical periodontal disease. Sterile endodontic paper points were used for collection of the samples, which were transported to a central laboratory for susceptibility testing. Anaerobic bacteria were isolated and Porphyromonas and Prevotella isolates identified to the species level; susceptibility to pradofloxacin and metronidazole was determined using the CLSI agar dilution methodology. A total of 630 isolates, 310 of Porphyromonas spp. and 320 of Prevotella spp., were isolated. Pradofloxacin MIC data for all isolates were in the range of periodontal disease and shows activity against metronidazole-resistant isolates. The broad-spectrum activity of pradofloxacin makes it a suitable candidate for the treatment of periodontal disease in dogs.

  18. Candidate chromosome 1 disease susceptibility genes for Sjogren’s syndrome xerostomia are narrowed by novel NOD.B10 congenic mice

    Science.gov (United States)

    Mongini, Patricia K. A.; Kramer, Jill M.; Ishikawa, Tomo-o; Herschman, Harvey; Esposito, Donna

    2014-01-01

    Sjogren’s syndrome (SS) is characterized by salivary gland leukocytic infiltrates and impaired salivation (xerostomia). Cox-2 (Ptgs2) is located on chromosome 1 within the span of the Aec2 region. In an attempt to demonstrate that COX-2 drives antibody-dependent hyposalivation, NOD.B10 congenic mice bearing a Cox-2flox gene were generated. A congenic line with non-NOD alleles in Cox-2-flanking genes failed manifest xerostomia. Further backcrossing yielded disease-susceptible NOD.B10 Cox-2flox lines; fine genetic mapping determined that critical Aec2 genes lie within a 1.56 to 2.17 Mb span of DNA downstream of Cox-2. Bioinformatics analysis revealed that susceptible and non-susceptible lines exhibit non-synonymous coding SNPs in 8 protein-encoding genes of this region, thereby better delineating candidate Aec2 alleles needed for SS xerostomia. PMID:24685748

  19. Association between a C8orf13–BLK Polymorphism and Polymyositis/Dermatomyositis in the Japanese Population: An Additive Effect with STAT4 on Disease Susceptibility

    Science.gov (United States)

    Sugiura, Tomoko; Kawaguchi, Yasushi; Goto, Kanako; Hayashi, Yukiko; Gono, Takahisa; Furuya, Takefumi; Nishino, Ichizo; Yamanaka, Hisashi

    2014-01-01

    Background Accumulating evidence has shown that several non-HLA genes are involved in the susceptibility to polymyositis/dermatomyositis. This study aimed to investigate the involvement of C8orf13–BLK, one of the strongest candidate genes for autoimmune diseases, in susceptibility to polymyositis/dermatomyositis in the Japanese population. A possible gene–gene interaction between C8orf13–BLK and STAT4, which we recently showed to be associated with Japanese polymyositis/dermatomyositis, was also analyzed. Methods A single-nucleotide polymorphism in C8orf13–BLK (dbSNP ID: rs13277113) was investigated in the Japanese population using a TaqMan assay in 283 polymyositis patients, 194 dermatomyositis patients, and 656 control subjects. Results The C8orf13–BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (Prs7574865 T alleles had an additive effect on polymyositis/dermatomyositis susceptibility. The strongest association was observed in dermatomyositis, with an OR of 3.07 (95% CI; 1.57–6.02) for the carriers of four risk alleles at the two SNP sites, namely, rs1327713 and rs7574865. Conclusions This study established C8orf13–BLK as a new genetic susceptibility factor for polymyositis/dermatomyositis. Both C8orf13–BLK and STAT4 exert additive effects on disease susceptibility. These observations suggested that C8orf13–BLK, in combination with STAT4, plays a pivotal role in creating genetic susceptibility to polymyositis/dermatomyositis in Japanese individuals. PMID:24632671

  20. Beryllium data base for in-pile mockup test on blanket of fusion reactor, (1)

    Energy Technology Data Exchange (ETDEWEB)

    Kawamura, Hiroshi; Ishitsuka, Etsuo (Japan Atomic Energy Research Inst., Oarai, Ibaraki (Japan). Oarai Research Establishment); Sakamoto, Naoki; Kato, Masakazu; Takatsu, Hideyuki.

    1992-11-01

    Beryllium has been used in the fusion blanket designs with ceramic breeder as a neutron multiplier to increase the net tritium breeding ratio (TBR). The properties of beryllium, that is physical properties, chemical properties, thermal properties, mechanical properties, nuclear properties, radiation effects, etc. are necessary for the fusion blanket design. However, the properties of beryllium have not been arranged for the fusion blanket design. Therefore, it is indispensable to check and examine the material data of beryllium reported previously. This paper is the first one of the series of papers