9 results on '"Irwin, Rachael"'
Search Results
2. Optical characterisation of a low temperature plasma jet
- Author
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Irwin, Rachael, Riley, David, and Graham, William
- Subjects
530.4 - Abstract
Low temperature plasma jets are of particular interest due to their unique way of producing reactive species even at room temperature and atmospheric pressure. They therefore have the potential to be used for various applications, in plasma medicine and surface modification in particular. The characterisation of these plasma jets is important in order to be able to control them for the desired application. Various optical diagnostics have been implemented to establish the formation and propagation of the plasma, as well as to estimate the important parameters such as electron density, n
e , and electron temperature, Te . Initially imaging on nanosecond timescale established that the plasma, although continuous to the naked eye, consisted of plasma bullets travelling at velocities of up to 105 m s−1 . 2D quasi monchromatic images of the plasma, obtained by isolating the light produced by individual spectral transitions, allowed an estimation of the density of excited helium states within the plasma, in the region of 1 × 109 − 2 × 1010 cm−3 . Optical emission spectroscopy was used to identify the species present, to estimate the electron temperature of the plasma using helium line ratios, and to estimate the gas temperature using nitrogen emission. The electron temperature and gas temperature were found to be 0.3 eV and 303 K respectively, which confirmed that the plasma jet was operating in the low temperature regime. Emission from allowed and forbidden helium lines was also utilised, in this case to estimate the electric field present, which was calculated to be 32.1 kV cm−1 . Thomson scattering was also attempted in an effort to obtain electron density and temperature estimates. However, the electron density of the plasma in question was simply too low to detect using the experimental set-up at hand. However, using a model consisting of data from Raman scattering it was possible to put an upper limit on the electron density of the plasma of 9.95 × 1012 cm−3 .- Published
- 2020
3. K-Edge Structure in Shock-Compressed Chlorinated Parylene
- Author
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Bailie, David, primary, White, Steven, additional, Irwin, Rachael, additional, Hyland, Cormac, additional, Warwick, Richard, additional, Kettle, Brendan, additional, Breslin, Nicole, additional, Bland, Simon N., additional, Chapman, David J., additional, Mangles, Stuart P. D., additional, Baggot, Rory A., additional, Tubman, Eleanor R., additional, and Riley, David, additional
- Published
- 2023
- Full Text
- View/download PDF
4. Study of Ar Photoionisation Physics using VULCAN
- Author
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Irwin, Rachael, Sarri, Gianluca, White, Steven, Warwick, Jonathan, Riley, David, and Keenan, Francis
- Published
- 2017
5. Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ
- Author
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Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V Krishna K, Anderson, Carl A, Schoenmakers, Nadia, Schoenmakers, Erik [0000-0003-0674-8282], Maher, Eamonn [0000-0002-6226-6918], Chatterjee, Krishna [0000-0002-2654-8854], Schoenmakers, Nadia [0000-0002-0847-2884], and Apollo - University of Cambridge Repository
- Subjects
Congenital Hypothyroidism/genetics ,endocrine system ,Genetic Screening ,Iron-Binding Proteins/genetics ,Receptors, Thyrotropin/genetics ,Receptors, Thyrotropin ,Original Articles ,Autoantigens/genetics ,Gene ,R1 ,Iodide Peroxidase/genetics ,Autoantigens ,Iodide Peroxidase ,Thyroglobulin ,Pedigree ,Phenotype ,Thyroglobulin/genetics ,Iron-Binding Proteins ,Mutation ,Congenital Hypothyroidism ,Humans - Abstract
Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. Objective: Our objective was to evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD, and TSHR) in CH cases with GIS. Patients, Design, and Setting: We screened 49 CH cases with GIS from 34 ethnically diverse families, using next-generation sequencing. Pathogenicity of novel mutations was assessed in silico. Results: Twenty-nine cases harbored likely disease-causing mutations. Monogenic defects (19 cases) most commonly involved TG (12), TPO (four), DUOX2 (two), and TSHR (one). Ten cases harbored triallelic (digenic) mutations: TG and TPO (one); SLC26A4 and TPO (three), and DUOX2 and TG (six cases). Novel variants overall included 15 TG, six TPO, and three DUOX2 mutations. Genetic basis was not ascertained in 20 patients, including 14 familial cases. Conclusions: The etiology of CH with GIS remains elusive, with only 59% attributable to mutations in TSHR or known dyshormonogenesis-associated genes in a cohort enriched for familial cases. Biallelic TG or TPO mutations most commonly underlie severe CH. Triallelic defects are frequent, mandating future segregation studies in larger kindreds to assess their contribution to variable phenotype. A high proportion (∼41%) of unsolved or ambiguous cases suggests novel genetic etiologies that remain to be elucidated., TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD and TSHR genes were screened in 49 cases of congenital hypothyroidism with eutopic gland-in-situ. 59% were solved including cases with triallelic mutations.
- Published
- 2016
- Full Text
- View/download PDF
6. Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ
- Author
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Nicholas, Adeline K., Serra, Eva G., Cangül, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M., Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G., Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H., Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F., Gregory, John W., Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R., Chatterjee, V. Krishna K., Anderson, Carl A., Schoenmakers, Nadia, Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Sağlam, Halil, and C-7392-2019
- Subjects
TPO protein ,TG gene ,Iodide peroxidase ,Dual Oxidases ,Congenital Hypothyroidism ,Oxidoreductases ,IYD gene ,Autoantigens ,Gene ,Receptor gene ,Thyroglobulin gene ,Computer model ,Phenomics ,DUOX2 gene ,Endocrinology & metabolism ,Priority journal ,Allele ,Iodide organification defects ,Goiter ,Sequence analysis ,TSHR gene ,Pedigree ,Phenotype ,Iron-binding proteins ,Cohort analysis ,Human ,TPO gene ,Clinical article ,Population ,DNA sequence ,Thyrotropin receptor ,Guidelines ,Thyroglobulin ,Article ,Autoantigen ,Next generation sequencing ,Genetic screening ,Genetics ,Humans ,Pathogenicity ,Genetic variation ,Iron binding protein ,Gene mutation ,Receptors, thyrotropin ,SLC5A5 gene ,Congenital hypothyroidism ,Japanese patients ,DUOX2 mutations ,Mutation ,Genetic association ,SLC26A4 gene ,DUOXA2 gene ,Dyshormonogenesis - Abstract
Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. Objective: Our objective was to evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD, and TSHR) in CH cases with GIS. Patients, Design, and Setting:We screened 49 CH cases with GIS from 34 ethnically diverse families, using next-generation sequencing. Pathogenicity of novel mutations was assessed in silica. Results: Twenty-nine cases harbored likely disease-causing mutations. Monogenic defects (19 cases) most commonly involved TG (12), TPO (four), DUOX2 (two), and TSHR (one). Ten cases harbored triallelic (digenic) mutations: TG and TPO (one); SLC26A4 and TPO (three), and DUOX2 and TG (six cases). Novel variants overall included 15 TG, six TPO, and three DUOX2 mutations. Genetic basis was not ascertained in 20 patients, including 14 familial cases. Conclusions: The etiology of CH with GIS remains elusive, with only 59% attributable to mutations in TSHR or known dyshormonogenesis-associated genes in a cohort enriched for familial cases. Biallelic TG or TPO mutations most commonly underlie severe CH. Triallelic defects are frequent, mandating future segregation studies in larger kindreds to assess their contribution to variable phenotype. A high proportion (-41%) of unsolved or ambiguous cases suggests novel genetic etiologies that remain to be elucidated. Wellcome Trust European Commission - 100585/Z/12/Z - 095564/Z/11/Z - 098051 - WT091310 UK Research & Innovation (UKRI) Medical Research Council UK (MRC) - MC_UU_12012/5/B European Commission National Institute for Health Research (NIHR) - (NF-SI-0514-10176) NIHR (CL-2012-06-005)
- Published
- 2016
7. Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ
- Author
-
Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V Krishna K, Anderson, Carl A, and Schoenmakers, Nadia
- Subjects
Phenotype ,Iron-Binding Proteins ,Mutation ,Congenital Hypothyroidism ,Humans ,Receptors, Thyrotropin ,Autoantigens ,Iodide Peroxidase ,Thyroglobulin ,3. Good health ,Pedigree - Abstract
CONTEXT: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. OBJECTIVE: Our objective was to evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD, and TSHR) in CH cases with GIS. Patients, Design, and Setting: We screened 49 CH cases with GIS from 34 ethnically diverse families, using next-generation sequencing. Pathogenicity of novel mutations was assessed in silico. PATIENTS, DESIGN, AND SETTING: We screened 49 CH cases with GIS from 34 ethnically diverse families, using next-generation sequencing. Pathogenicity of novel mutations was assessed in silico. RESULTS: Twenty-nine cases harbored likely disease-causing mutations. Monogenic defects (19 cases) most commonly involved TG (12), TPO (four), DUOX2 (two), and TSHR (one). Ten cases harbored triallelic (digenic) mutations: TG and TPO (one); SLC26A4 and TPO (three), and DUOX2 and TG (six cases). Novel variants overall included 15 TG, six TPO, and three DUOX2 mutations. Genetic basis was not ascertained in 20 patients, including 14 familial cases. CONCLUSIONS: The etiology of CH with GIS remains elusive, with only 59% attributable to mutations in TSHR or known dyshormonogenesis-associated genes in a cohort enriched for familial cases. Biallelic TG or TPO mutations most commonly underlie severe CH. Triallelic defects are frequent, mandating future segregation studies in larger kindreds to assess their contribution to variable phenotype. A high proportion (∼41%) of unsolved or ambiguous cases suggests novel genetic etiologies that remain to be elucidated.
8. FEEDBACK.
- Author
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HAMILTON, MARYANN, GLENN, MIKE, STEINBERG, JANE, and IRWIN, RACHAEL
- Subjects
CONCERTS ,MUSICAL performance - Abstract
Several letters to the editor are presented in response to the editor's note about experiencing feelings in art and music in the Summer 2014 issue.
- Published
- 2014
9. Culture Shock and Multiculturalism: Reclaiming a Useful Model from the Religious Realm
- Author
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Edward Dutton, Author and Edward Dutton, Author
- Subjects
- Multiculturalism--Religious aspects, Culture shock, Culture conflict
- Abstract
It used to be widely accepted amongst anthropologists that when they conducted fieldwork with foreign cultures they experienced something called ‘culture shock.'This book will argue that ‘culture shock'is a useful model for understanding an important part of human experience. However, in its most widely-known form, the stage model, ‘culture shock'has been heavily influenced by the same anti-science, latter-day religiosity that has become so influential more broadly: Multiculturalism.This book will examine culture shock through the model of ‘religion.'It will show how the most well-known model of culture shock – so popular amongst business consultants, expatriates, international students and travelers – has become a means of promoting and sustaining this replacement religion which includes everything from dogmatism and fervour to conversion experience. By so doing, it will aim both to better understand culture shock and to show how it can still be useful, if divorced from its implicitly religious dimensions, to broadly scientific scholars. It will also suggest how anthropology itself might be stripped of its ideological infiltration and returned to the realm of science.
- Published
- 2012
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