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Search Results: 1 - 10 of 305248 matches for " Patrick J. Concannon "
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Prospective Teachers’ Perceptions of Science Theories: An Action Research Study  [PDF]
James P. Concannon, Patrick L. Brown, Erikka Brown
Creative Education (CE) , 2013, DOI: 10.4236/ce.2013.41011
Abstract: This study investigates prospective teachers’ conceptions of science theories before and after instruction. Instruction focused specifically on prospective teachers’ misconceptions that theories are not used to predict, that laws are more important than theories, and that theories are simply hunches. The action research investigation was successful in helping students accommodate new information presented in the lesson and facilitated their understanding towards the accepted explanation of what a theory in science means; however, the vernacular misconception that “theories are hunches” persisted.
Imputing Amino Acid Polymorphisms in Human Leukocyte Antigens
Xiaoming Jia, Buhm Han, Suna Onengut-Gumuscu, Wei-Min Chen, Patrick J. Concannon, Stephen S. Rich, Soumya Raychaudhuri, Paul I.W. de Bakker
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0064683
Abstract: DNA sequence variation within human leukocyte antigen (HLA) genes mediate susceptibility to a wide range of human diseases. The complex genetic structure of the major histocompatibility complex (MHC) makes it difficult, however, to collect genotyping data in large cohorts. Long-range linkage disequilibrium between HLA loci and SNP markers across the major histocompatibility complex (MHC) region offers an alternative approach through imputation to interrogate HLA variation in existing GWAS data sets. Here we describe a computational strategy, SNP2HLA, to impute classical alleles and amino acid polymorphisms at class I (HLA-A, -B, -C) and class II (-DPA1, -DPB1, -DQA1, -DQB1, and -DRB1) loci. To characterize performance of SNP2HLA, we constructed two European ancestry reference panels, one based on data collected in HapMap-CEPH pedigrees (90 individuals) and another based on data collected by the Type 1 Diabetes Genetics Consortium (T1DGC, 5,225 individuals). We imputed HLA alleles in an independent data set from the British 1958 Birth Cohort (N = 918) with gold standard four-digit HLA types and SNPs genotyped using the Affymetrix GeneChip 500 K and Illumina Immunochip microarrays. We demonstrate that the sample size of the reference panel, rather than SNP density of the genotyping platform, is critical to achieve high imputation accuracy. Using the larger T1DGC reference panel, the average accuracy at four-digit resolution is 94.7% using the low-density Affymetrix GeneChip 500 K, and 96.7% using the high-density Illumina Immunochip. For amino acid polymorphisms within HLA genes, we achieve 98.6% and 99.3% accuracy using the Affymetrix GeneChip 500 K and Illumina Immunochip, respectively. Finally, we demonstrate how imputation and association testing at amino acid resolution can facilitate fine-mapping of primary MHC association signals, giving a specific example from type 1 diabetes.
Spatiotemporally complete condensation in a non-Poissonian exclusion process
R. J. Concannon,R. A. Blythe
Physics , 2013, DOI: 10.1103/PhysRevLett.112.050603
Abstract: We investigate a non-Poissonian version of the asymmetric simple exclusion process, motivated by the observation that coarse-graining the interactions between particles in complex systems generically leads to a stochastic process with a non-Markovian (history-dependent) character. We characterize a large family of one-dimensional hopping processes using a waiting-time distribution for individual particle hops. We find that when its variance is infinite, a real-space condensate forms that is complete in space (involves all particles) and time (exists at almost any given instant) in the thermodynamic limit. The mechanism for the onset and stability of the condensate are both rather subtle, and depends on the microscopic dynamics subsequent to a failed particle hop attempts.
Spectral Variations in Early-Type Galaxies as a Function of Mass
K. D. Concannon,J. A. Rose,N. Caldwell
Physics , 2000, DOI: 10.1086/312727
Abstract: We report on the strengths of three spectral indicators - Mg_2, Hbeta, and Hn/Fe - in the integrated light of a sample of 100 field and cluster E/S0 galaxies. The measured indices are sensitive to age and/or and metallicity variations within the galaxy sample. Using linear regression analysis for data with non-uniform errors, we determine the intrinsic scatter present among the spectral indices of our galaxy sample as a function of internal velocity dispersion. Our analysis indicates that there is significantly more intrinsic scatter in the two Balmer line indices than in the Mg_2 index, indicating that the Balmer indices provide more dynamic range in determining the age of a stellar population than does the Mg_2 index. Furthermore, the scatter is much larger for the low velocity dispersion galaxies, indicating that star formation has occurred more recently in the lower mass galaxies.
Study design: Evaluating gene–environment interactions in the etiology of breast cancer – the WECARE study
Jonine L Bernstein, Bryan Langholz, Robert W Haile, Leslie Bernstein, Duncan C Thomas, Marilyn Stovall, Kathleen E Malone, Charles F Lynch, J?rgen H Olsen, Hoda Anton-Culver, Roy E Shore, John D Boice, Gertrud S Berkowitz, Richard A Gatti, Susan L Teitelbaum, Susan A Smith, Barry S Rosenstein, Anne-Lise B?rresen-Dale, Patrick Concannon, W Douglas Thompson
Breast Cancer Research , 2004, DOI: 10.1186/bcr771
Abstract: To examine the joint roles of radiation exposure and genetic susceptibility in the etiology of breast cancer, we designed a case-control study nested within five population-based cancer registries. We hypothesized that a woman carrying a mutant allele in one of these genes is more susceptible to radiation-induced breast cancer than is a non-carrier. In our study, 700 women with asynchronous bilateral breast cancer were individually matched to 1400 controls with unilateral breast cancer on date and age at diagnosis of the first breast cancer, race, and registry region, and counter-matched on radiation therapy. Each triplet comprised two women who received radiation therapy and one woman who did not. Radiation absorbed dose to the contralateral breast after initial treatment was estimated with a comprehensive dose reconstruction approach that included experimental measurements in anthropomorphic and water phantoms applying patient treatment parameters. Blood samples were collected from all participants for genetic analyses.Our study design improves the potential for detecting gene–environment interactions for diseases when both gene mutations and the environmental exposures of interest are rare in the general population. This is particularly applicable to the study of bilateral breast cancer because both radiation dose and genetic susceptibility have important etiologic roles, possibly by interactive mechanisms. By using counter-matching, we optimized the informativeness of the collected dosimetry data by increasing the variability of radiation dose within the case–control sets and enhanced our ability to detect radiation–genotype interactions.The WECARE (for Women's Environmental Cancer and Radiation Epidemiology) Study is a multi-center, population-based case-control study of breast cancer designed to examine the interaction of gene carrier status and radiation exposure in the etiology of breast cancer. We are currently focusing on three major breast cancer suscepti
The role of X-chromosome inactivation in female predisposition to autoimmunity
Smita Chitnis, Joanita Monteiro, David Glass, Brian Apatoff, Jane Salmon, Patrick Concannon, Peter K Gregersen
Arthritis Research & Therapy , 2000, DOI: 10.1186/ar118
Abstract: A reduction in the sex ratio (male : female) is characteristic of most autoimmune disorders. The increased prevalence in females ranges from a modest 2:1 for multiple sclerosis [1], to approximately 10:1 for systemic lupus erythematosus [2]. This tendency toward autoimmunity in females is often ascribed to hormonal differences, because in a number of experimental disease models estrogens exacerbated disease, and androgens can inhibit disease activity [3,4]. However, human studies have failed to demonstrate a clear-cut influence of hormonal environment on disease susceptibility to lupus or other autoimmune disorders. In addition, many childhood forms of autoimmunity, such as juvenile rheumatoid arthritis, exhibit female predominance [5]. Interestingly, juvenile (type 1) diabetes is an exception to this general trend, with a sex ratio close to 1 in most studies [6]. Therefore, it is reasonable to consider alternative explanations for the increased prevalence of autoimmune diseases in human females.A unifying feature of autoimmune disorders appears to be the loss of immunologic tolerance to self-antigens, and in many of these diseases there is evidence that T-cell tolerance has been broken. The most profound form of T-cell tolerance involves deletion of potentially self-reactive T cells during thymic selection. Thus, lack of exposure to a self-antigen in the thymus may lead to the presence of autoreactive T cells and may increase the risk of autoimmunity. An elegant example of this has recently been reported [7].The existence of X-chromosome inactivation in females offers a potential mechanism whereby X-linked self-antigens may escape presentation in the thymus or in other peripheral sites that are involved in tolerance induction. Early in female development, one of the two X chromosomes in each cell undergoes an ordered process of inactivation, with subsequent silencing of most genes on the inactive X chromosome [8]. This phenomenon occurs at a very early embryonic st
ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy
Juliette Faraco equal contributor,Ling Lin equal contributor,Birgitte Rahbek Kornum,Eimear E. Kenny,Gosia Trynka,Mali Einen,Tom J. Rico,Peter Lichtner,Yves Dauvilliers,Isabelle Arnulf,Michel Lecendreux,Sirous Javidi,Peter Geisler,Geert Mayer,Fabio Pizza,Francesca Poli,Giuseppe Plazzi,Sebastiaan Overeem,Gert Jan Lammers,David Kemlink,Karel Sonka,Sona Nevsimalova,Guy Rouleau,Alex Desautels,Jacques Montplaisir,Birgit Frauscher,Laura Ehrmann,Birgit H?gl,Poul Jennum,Patrice Bourgin,Rosa Peraita-Adrados,Alex Iranzo,Claudio Bassetti,Wei-Min Chen,Patrick Concannon,Susan D. Thompson,Vincent Damotte,Bertrand Fontaine,Maxime Breban,Christian Gieger,Norman Klopp,Panos Deloukas,Cisca Wijmenga,Joachim Hallmayer,Suna Onengut-Gumuscu,Stephen S. Rich,Juliane Winkelmann,Emmanuel Mignot
PLOS Genetics , 2013, DOI: 10.1371/journal.pgen.1003270
Abstract: Recent advances in the identification of susceptibility genes and environmental exposures provide broad support for a post-infectious autoimmune basis for narcolepsy/hypocretin (orexin) deficiency. We genotyped loci associated with other autoimmune and inflammatory diseases in 1,886 individuals with hypocretin-deficient narcolepsy and 10,421 controls, all of European ancestry, using a custom genotyping array (ImmunoChip). Three loci located outside the Human Leukocyte Antigen (HLA) region on chromosome 6 were significantly associated with disease risk. In addition to a strong signal in the T cell receptor alpha (TRA@), variants in two additional narcolepsy loci, Cathepsin H (CTSH) and Tumor necrosis factor (ligand) superfamily member 4 (TNFSF4, also called OX40L), attained genome-wide significance. These findings underline the importance of antigen presentation by HLA Class II to T cells in the pathophysiology of this autoimmune disease.
ATM mutations associated with breast cancer
RA Gatti, P Concannon
Breast Cancer Research , 2005, DOI: 10.1186/bcr1048
Abstract: These efforts were partially funded by NIH grant NS35322 and the A-T Medical Research Foundation, Los Angeles, California, USA.
Pseudocholinesterase Deficiency: A Case Report and Literature Review  [PDF]
Patrick J. Hackett, Tetsuro Sakai
Open Journal of Anesthesiology (OJAnes) , 2012, DOI: 10.4236/ojanes.2012.24043
Abstract: A 72-year-old male underwent neck dissection and parotidectomy with facial nerve preservation. Endotracheal intubation was facilitated with succinylcholine. Prolonged muscle paralysis which was first detected after failure to stimulate the facial nerve with electrocautery, lasted five hours. Laboratory tests indicated pseudocholinesterase (PChE) deficiency. A thyroidectomy one month later was performed uneventfully using rocuronium as a muscle relaxant. Literature review revealed a total of 40 PChE deficiency cases being reported since 1956.
The Effect of Work-Based Placement on the Final Year Attainment of Students Reading for a Broad BSc Hons Degree Programme in Biosciences in Northern Ireland—Case Report  [PDF]
Violetta Naughton, Patrick J. Naughton
Open Journal of Social Sciences (JSS) , 2016, DOI: 10.4236/jss.2016.41022
Abstract: This case report presents an evaluation of the effect of a work-based placement on the achievements in the final year of the undergraduate degree. We also aimed to assess whether “better” students were opting to take up a placement year and if such a con-founder would have an influence on the effect of placement on final year performance. Retrospective data were collected for ten consecutive cohorts of students who had read for the same full time BSc Hons degree programme with a broad curriculum that offered an optional work-based placement year that was not closely aligned to their academic studies. The results have shown that “better” students opt to take up an optional work-based placement year; however, taking up the placement has not affected students’ final year attainment. This case report supports the notion that for a work-based placement to have a positive effect on students’ final year attainment, the placement must be closely aligned to the discipline of academic study.
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