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1. Escafocefalia en aborígenes de la Republica Argentina: dos casos de estudio / Aboriginal scaphocephaly of Argentina: two case studies

Author

Hilton D. Drube

Subjects
Anthropology, GN1-890, Physical anthropology. Somatology, GN49-298
Abstract

La escafocefalia constituye la manifestación más frecuente en el grupo de anomalías óseas denominadas craneostenosis, condición patológica que involucra el cierre prematuro de las suturas en el cráneo. La escafocefalia consiste en la obliteración temprana de la sutura sagital, limitando por lo tanto el desarrollo en dirección transversa del cráneo. El presente trabajo da cuenta de la manifestación de esta patología congénita en dos casos correspondientes a individuos de poblaciones aborígenes prehispánicas de Argentina. El primero de ellos procede de un sitio arqueológico del Período Tardío localizado en la cuenca del río Dulce en la provincia de Santiago del Estero. Caracteriza el sitio la presencia de numerosos montículos y alfarería del complejo Sunchituyoj. Los restos corresponden a un individuo adulto con atributos morfológicos masculinos. El calvarium se caracteriza por su extrema longitud y estrechez, constituyendo un típico caso de escafocefalia al no observarse rastro alguno de la sutura sagital, la que presenta fusión completa interna y externamente. El segundo caso, un individuo juvenil de sexo indeterminado, pertenece también a la provincia de Santiago del Estero, si bien su procedencia corresponde en este caso a la cuenca del río Salado. De la misma manera que el caso anterior, el cráneo presenta una longitud marcada en sentido ánteroposterior y un índice cefálico inferior a 70. La sutura sagital presenta fusión completa endocranealmente, en tanto que la sinostosis ectocraneal es parcial al apreciarse rastros de la sutura en la región bregmática.

Published
2015

2. Prácticas mortuorias y evaluación bioesqueletal en un sitio arqueológico prehispánico del departamento Choya, Santiago del Estero / Mortuary practices and osteological evaluation in a pre-Hispanic archaeological site of the department Choya

Author

Hilton D. Drube

Subjects
Anthropology, GN1-890, Physical anthropology. Somatology, GN49-298
Abstract

Las prácticas mortuorias en las sociedades humanas suelen presentar variaciones en sus expresiones según el estatus social o la categoría etaria de los individuos que las conforman. En la presente comunicación se procede a evaluar dos enterratorios correspondientes a un sitio arqueológico del departamento Choya, ubicado en la región sudoeste de la provincia de Santiago del Estero. El sitio se encuentra enclavado en el piedemonte oriental de las Sierras de Guasayán y su adscripción cerámica corresponde la cultura de Las Mercedes. Si bien los entierros corresponden a individuos adultos, el patrón inhumatorio es diferente en ambos, al tratarse de una inhumación en urna en el primer caso, y de un enterratorio directo en el segundo. Los elementos óseos humanos depositados en la vasija funeraria corresponden únicamente al calvarium, adoleciendo de las piezas dentarias y de los restantes huesos esqueletales. Junto a los mismos yacían restos óseos faunísticos diversos. Dada la escasez de elementos esqueletales se pudo aproximar únicamente la edad y el sexo del individuo y también determinar la presencia de patologías presuntamente relacionadas con hábitos alimenticios. En cuanto al entierro directo, se recuperaron elementos tanto craneanos como postcraneales, pudiéndose determinar con precisión sus atributos dimórficos, etarios y morfológicos. Respecto a las anomalías óseas y dentales observadas en este individuo, destaca la presencia tanto de criba crania como de caries.

Published
2015

4. Ultrafast Phase Transition in Vanadium Dioxide Driven by Hot-Electron Injection

Author

Prasankumar R. P., Nag J., Seo M., Brady N. F., Appavoo K., Hilton D. J., and Haglund R. F.

Subjects
Physics, QC1-999
Abstract

We present a novel all-optical method of triggering the phase transition in vanadium dioxide by means of ballistic electrons injected across the interface between a mesh of Au nanoparticles coveringd VO2 nanoislands. By performing non-degenerate pump-probe transmission spectroscopy on this hybrid plasmonic/phase-changing nanostructure, structural and electronic dynamics can be retrieved and compared.

Published
2013
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5. Ultrafast Dynamics of the VO2 Insulator-to-Metal Transition Observed by Nondegenerate Pump-Probe Spectroscopy

Author

Haglund R. F., Prasankumar R. P., Nag J., Seo M., Appavoo K., Brady N. F., and Hilton D. J.

Subjects
Physics, QC1-999
Abstract

Non-degenerate pump (1.5 eV)-probe (0.4 eV) transmission spectroscopy on vanadium dioxide films grown on glass and three different sapphire substrates shows systematic variations with substrate that correlate with VO2 grain size and laser fluence. Temperature dependent measurements showed changes in the electronic response that is proportional to the metallic fraction.

Published
2013
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6. Elucidating the aggregation mechanisms of antibody fragments through biophysical analysis

Author

Hilton, D. W., Dalby, P. A., and Curtis, R. A.

Subjects
660.6
Abstract

The spontaneous formation of aggregates presents an obstacle in the developability, manufacturability and long term storage of numerous therapeutic proteins. These aggregates are a manifestation of the drug molecule's physical instability, potentially leading to reduced biological activity, differences in solution properties or increased immunogenic potential. Currently our understanding of the mechanisms behind aggregation and the role of a protein's extrinsic environment upon the molecule's aggregation propensity remains limited. In this study we investigated the aggregation behavior of a previously unstudied commercial biopharmaceutical, an α-TNF Fab' antibody fragment. Initially we mapped the differences in aggregation kinetics and product morphologies accompanying changes to the protein's aqueous environment, finding that the aggregation pathway adopted by the molecule depended upon the pH of the system. We then employed a combination of intrinsic and colloidal stability measurements to probe the causes of the behavioral differences seen. Together, these biophysical properties quantitatively captured the relative differences in aggregation rates observed. Furthermore, we were able to infer the existence of various partially folded intermediates whose populations govern the types and rates of aggregates formed. Finally, we sought to identify whether observable changes in the native state conformation precluded aggregate formation through low resolution structural analysis using small angle X-ray scattering. We showed that a drop in pH generated a conformationally expanded state which appeared to coincide with the titration of a key histidine residue within the protein's structure. We predict that an equivalent mechanism will lead to aggregation at low pH of other human derived antigen binding fragments.

Published
2016

7. Terahertz Coherent Control of a Landau-Quantized Two-Dimensional Electron Gas

Author

Arikawa, T., Wang, X., Hilton, D. J., Reno, J. L., Pan, W., and Kono, J.

Subjects
Condensed Matter - Mesoscale and Nanoscale Physics
Abstract

We demonstrate coherent control of cyclotron resonance (CR) in a two-dimensional electron gas (2DEG). We use a sequence of terahertz pulses to control the amplitude of CR oscillations in an arbitrary fashion via phase-dependent coherent interactions. We observe a self-interaction effect, where the 2DEG interacts with the terahertz field emitted by itself within the decoherence time, resulting in a revival and collapse of quantum coherence. These observations are accurately describable using {\em single-particle} optical Bloch equations, showing no signatures of electron-electron interactions, which verifies the validity of Kohn's theorem for CR in the coherent regime., Comment: 4 pages, 4 figures

Published
2011
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8. Direct Measurement of Cyclotron Coherence Times of High-Mobility Two-Dimensional Electron Gases

Author

Wang, X., Hilton, D. J., Reno, J. L., Mittleman, D. M., and Kono, J.

Subjects
Condensed Matter - Mesoscale and Nanoscale Physics
Abstract

We have observed long-lived (~30 ps) coherent oscillations of charge carriers due to cyclotron resonance (CR) in high-mobility two-dimensional electrons in GaAs in perpendicular magnetic fields using time-domain terahertz spectroscopy. The observed coherent oscillations were fitted well by sinusoids with exponentially-decaying amplitudes, through which we were able to provide direct and precise measures for the decay times and oscillation frequencies simultaneously. This method thus overcomes the CR saturation effect, which is known to prevent determination of true CR linewidths in high-mobility electron systems using Fourier-transform infrared spectroscopy., Comment: 7 pages, 4 figures

Published
2010
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9. Carbon Nanotube Terahertz Polarizer

Author

Ren, L., Pint, C. L., Booshehri, L. G., Rice, W. D., Wang, X., Hilton, D. J., Takeya, K., Kawayama, I., Tonouchi, M., Hauge, R. H., and Kono, J.

Subjects
Condensed Matter - Materials Science
Abstract

We describe a film of highly-aligned single-walled carbon nanotubes that acts as an excellent terahertz linear polarizer. There is virtually no attenuation (strong absorption) when the terahertz polarization is perpendicular (parallel) to the nanotube axis. From the data we calculated the reduced linear dichrosim to be 3, corresponding to a nematic order parameter of 1, which demonstrates nearly perfect alignment as well as intrinsically anisotropic terahertz response of single-walled carbon nanotubes in the film., Comment: 13 pages, 3 figures

Published
2009
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10. Softening of the insulating phase near Tc for the photo-induced insulator-to-metal phase transition in vanadium dioxide

Author

Hilton, D. J., Prasankumar, R. P., Fourmaux, S., Cavalleri, A., Brassard, D., Khakani, M. A. El, Kieffer, J. C., Taylor, A. J., and Averitt, R. D.

Subjects
Condensed Matter - Strongly Correlated Electrons, Condensed Matter - Materials Science
Abstract

We use optical-pump terahertz-probe spectroscopy to investigate the near-threshold behavior of the photoinduced insulator-to-metal (IM) transition in vanadium dioxide thin films. Upon approaching Tc a reduction in the fluence required to drive the IM transition is observed, consistent with a softening of the insulating state due to an increasing metallic volume fraction (below the percolation limit). This phase coexistence facilitates the growth of a homogeneous metallic conducting phase following superheating via photoexcitation. A simple dynamic model using Bruggeman effective medium theory describes the observed initial condition sensitivity., Comment: accepted for publication in Physical Review Letters

Published
2007
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11. Terahertz Time-Domain Magnetospectroscopy of a High-Mobility Two-Dimensional Electron Gas

Author

Wang, X., Hilton, D. J., Ren, L., Mittleman, D. M., Kono, J., and Reno, J. L.

Subjects
Condensed Matter - Mesoscale and Nanoscale Physics, Condensed Matter - Materials Science
Abstract

We have observed cyclotron resonance in a high-mobility GaAs/AlGaAs two-dimensional electron gas by using the techniques of terahertz time-domain spectroscopy combined with magnetic fields. From this, we calculate the real and imaginary parts of the diagonal elements of the magnetoconductivity tensor, which in turn allows us to extract the concentration, effective mass, and scattering time of the electrons in the sample. We demonstrate the utility of ultrafast terahertz spectroscopy, which can recover the true linewidth of cyclotron resonance in a high-mobility ($>{10}^{6} \mathrm{cm^{2} V^{-1} s^{-1}}$) sample without being affected by the saturation effect., Comment: 4 pages, 3 figures

Published
2007
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12. Ultrafast Conductivity Dynamics in Pentacene Probed using Terahertz Spectroscopy

Author

Thorsmolle, V. K., Averitt, R. D., Chi, X., Hilton, D. J., Smith, D. L., Ramirez, A. P., and Taylor, A. J.

Subjects
Condensed Matter
Abstract

We present measurements of the transient photoconductivity in pentacene single crystals using optical-pump THz-probe spectroscopy. We have measured the temperature and fluence dependence of the mobility of the photoexcited charge carriers with picosecond resolution. The pentacene crystals were excited at 3.0 eV which is above the bandgap of ~2.2 eV and the induced change in the far-infrared transmission was measured. At 30 K, the carrier mobility is mu ~ 0.4 cm^2/Vs and decreases to mu ~ 0.2 cm^2/Vs at room temperature. The transient terahertz signal reveals the presence of free carriers that are trapped on the timescale of a few ps or less, possibly through the formation of excitons, small polarons, or trapping by impurities., Comment: 11 pages, 4 figures, Accepted for publication in Applied Physics Letters

Published
2004
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13. Forearc carbon sink reduces long-term volatile recycling into the mantle

Author

Barry, P. H., de Moor, J. M., Giovannelli, D., Schrenk, M., Hummer, D. R., Lopez, T., Pratt, C. A., Segura, Y. Alpízar, Battaglia, A., Beaudry, P., Bini, G., Cascante, M., d’Errico, G., di Carlo, M., Fattorini, D., Fullerton, K., Gazel, E., González, G., Halldórsson, S. A., Iacovino, K., Ilanko, T., Kulongoski, J. T., Manini, E., Martínez, M., Miller, H., Nakagawa, M., Ono, S., Patwardhan, S., Ramírez, C. J., Regoli, F., Smedile, F., Turner, S., Vetriani, C., Yücel, M., Ballentine, C. J., Fischer, T. P., Hilton, D. R., and Lloyd, K. G.

Published
2019
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16. Multidimensional spectroscopy of magneto-excitons at high magnetic fields.

Author

Mapara, V., Stevens, C. E., Paul, J., Barua, A., Reno, J. L., McGill, S. A., Hilton, D. J., and Karaiskaj, D.

Subjects
MAGNETIC fields, FOURIER transform spectroscopy, BLOCH equations, SPECTROMETRY, QUANTUM phase transitions
Abstract

We perform two-dimensional Fourier transform spectroscopy on magneto-excitons in GaAs at magnetic fields and observe Zeeman splitting of the excitons. The Zeeman components are clearly resolved as separate peaks due to the two-dimensional nature of the spectra, leading to a more accurate measurement of the Zeeman splitting and the Landé g factors. Quantum coherent coupling between Zeeman components is observed using polarization dependent one-quantum two-dimensional spectroscopy. We use two-quantum two-dimensional spectroscopy to investigate higher four-particle correlations at high magnetic fields and reveal the role of the Zeeman splitting on the two-quantum transitions. The experimental two-dimensional spectra are simulated using the optical Bloch equations, where many-body effects are included phenomenologically. [ABSTRACT FROM AUTHOR]

Published
2021
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17. Superradiant Emission in a High-mobility Two-dimensional Electron Gas

Author

Barman, Biplob, primary, Linn, A. G., additional, O’Beirne, A. L., additional, Holleman, J., additional, Garcia, C., additional, Mapara, V., additional, Reno, John L, additional, McGill, Stephen A, additional, Turkowski, Volodymyr, additional, Karaiskaj, Denis, additional, and Hilton, D. J., additional

Published
2023
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19. In person and virtual process mapping experiences to capture and explore variability in clinical practice: application to genetic referral pathways across seven Australian hospital networks.

Author

Morrow, A, Steinberg, J, Chan, P, Tiernan, G, Kennedy, E, Egoroff, N, Hilton, D, Sankey, L, Venchiarutti, R, Hayward, A, Pearn, A, McKay, S, Debono, D, Hogden, E, Taylor, N, Morrow, A, Steinberg, J, Chan, P, Tiernan, G, Kennedy, E, Egoroff, N, Hilton, D, Sankey, L, Venchiarutti, R, Hayward, A, Pearn, A, McKay, S, Debono, D, Hogden, E, and Taylor, N

Abstract

Genetic referral for Lynch syndrome (LS) exemplifies complex clinical pathways. Identifying target behaviours (TBs) for change and associated barriers requires structured group consultation activities with busy clinicians - consolidating implementation activities whilst retaining rigour is crucial. This study aimed to: i) use process mapping to gain in-depth understandings of site-specific LS testing and referral practices in Australian hospitals and support identification of TBs for change, ii) explore if barriers to identified TBs could be identified through process mapping focus-group data, and iii) demonstrate pandemic-induced transition from in-person to virtual group interactive process mapping methods. LS clinical stakeholders attended interactive in-person or virtual focus groups to develop site-specific "process maps" visually representing referral pathways. Content analysis of transcriptions informed site-specific process maps, then clinical audit data was compared to highlight TBs for change. TBs were reviewed in follow-up focus groups. Secondary thematic analysis explored barriers to identified TBs, coded against the Theoretical Domains Framework (TDF). The transition from in-person to pandemic-induced virtual group interactive process mapping methods was documented. Process mapping highlighted six key areas of clinical practice variation across sites and site-specific TBs for change were identified. Key barriers to identified TBs emerged, categorised to seven TDF domains. Process mapping revealed variations in clinical practices surrounding LS referral between sites. Incorporating qualitative perspectives enhances process mapping by facilitating identification of TBs for change and barriers, providing a pathway to developing targeted interventions. Virtual process mapping activities produced detailed data and enabled comprehensive map development.

Published
2023

21. Author Correction: Forearc carbon sink reduces long-term volatile recycling into the mantle

Author

Barry, P. H., de Moor, J. M., Giovannelli, D., Schrenk, M., Hummer, D. R., Lopez, T., Pratt, C. A., Segura, Y. Alpízar, Battaglia, A., Beaudry, P., Bini, G., Cascante, M., d’Errico, G., di Carlo, M., Fattorini, D., Fullerton, K., Gazel, E., González, G., Halldórsson, S. A., Ilanko, T., Iacovino, K., Kulongoski, J. T., Manini, E., Martínez, M., Miller, H., Nakagawa, M., Ono, S., Patwardhan, S., Ramírez, C. J., Regoli, F., Smedile, F., Turner, S., Vetriani, C., Yücel, M., Ballentine, C. J., Fischer, T. P., Hilton, D. R., and Lloyd, K. G.

Published
2019
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22. Assigning moral roles within the Second World War in Europe: National similarities, differences, and implications for group-level moral representations

Author

Giner-Sorolla, R, Hilton, D, Erb, H, Durante, F, Flaßbeck, C, Fulop, E, Mari, S, Petrović, N, Sekerdej, M, Studzinska, A, Skitka, L, Washburn, A, Zadora, A, Giner-Sorolla R., Hilton D., Erb H. P., Durante F., Flaßbeck C., Fulop E., Mari S., Petrović N., Sekerdej M., Studzinska A., Skitka L. J., Washburn A. N., Zadora A., Giner-Sorolla, R, Hilton, D, Erb, H, Durante, F, Flaßbeck, C, Fulop, E, Mari, S, Petrović, N, Sekerdej, M, Studzinska, A, Skitka, L, Washburn, A, Zadora, A, Giner-Sorolla R., Hilton D., Erb H. P., Durante F., Flaßbeck C., Fulop E., Mari S., Petrović N., Sekerdej M., Studzinska A., Skitka L. J., Washburn A. N., and Zadora A.

Abstract

The moral roles assigned to nations that took part in the Second World War cast a shadow over contemporary international politics. To understand contemporary moral beliefs about the war, we took 11 mostly student samples from 9 nations that took part in the European theatre of war (total N = 1,427). We asked respondents, in free and scaled listings, to identify the war’s heroes, villains, victims, and recipients of help. Nations and individuals seen as heroes, victims, and villains could be readily identified by most samples and showed both continuity and difference across nations. Most nations preferentially assigned themselves hero and victim roles, and the two were correlated positively, showing ingroup favouritism linked to victimhood. These findings show the importance of morality to contemporary views of the war and suggest further directions for studying today’s political climate in Europe and elsewhere.

Published
2021

28. Catálogo Taxonômico da Fauna do Brasil: Setting the baseline knowledge on the animal diversity in Brazil

Author

Walter A. Boeger, Michel P. Valim, Hussam Zaher, José A. Rafael, Rafaela C. Forzza, Alexandre R. Percequillo, Cristiana S. Serejo, André R.S. Garraffoni, Adalberto J. Santos, Adam Slipinski, Adelita M. Linzmeier, Adolfo R. Calor, Adrian A. Garda, Adriano B. Kury, Agatha C.S. Fernandes, Aisur I. Agudo-Padrón, Alberto Akama, Alberto M. da Silva Neto, Alejandro L. Burbano, Aleksandra Menezes, Alessandre Pereira-Colavite, Alexander Anichtchenko, Alexander C. Lees, Alexandra M.R. Bezerra, Alexandre C. Domahovski, Alexandre D. Pimenta, Alexandre L.P. Aleixo, Alexandre P. Marceniuk, Alexandre S. de Paula, Alexandre Somavilla, Alexandre Specht, Alexssandro Camargo, Alfred F. Newton, Aline A.S. da Silva, Aline B. dos Santos, Aline D. Tassi, Allan C. Aragão, Allan P.M. Santos, Alvaro E. Migotto, Amanda C. Mendes, Amanda Cunha, Amazonas Chagas Júnior, Ana A.T. de Sousa, Ana C. Pavan, Ana C.S. Almeida, Ana L.B.G. Peronti, Ana L. Henriques-Oliveira, Ana L. Prudente, Ana L. Tourinho, Ana M.O. Pes, Ana P. Carmignotto, Ana P.G. da Silva Wengrat, Ana P.S. Dornellas, Anamaria Dal Molin, Anderson Puker, André C. Morandini, André da S. Ferreira, André L. Martins, André M. Esteves, André S. Fernandes, André S. Roza, Andreas Köhler, Andressa Paladini, Andrey J. de Andrade, Ângelo P. Pinto, Anna C. de A. Salles, Anne I. Gondim, Antonia C.Z. Amaral, Antonio A.A. Rondón, Antonio Brescovit, Antônio C. Lofego, Antonio C. Marques, Antonio Macedo, Artur Andriolo, Augusto L. Henriques, Augusto L. Ferreira Júnior, Aurino F. de Lima, Ávyla R. de A. Barros, Ayrton do R. Brito, Bárbara L.V. Romera, Beatriz M.C. de Vasconcelos, Benjamin W. Frable, Bernardo F. Santos, Bernardo R. Ferraz, Brunno B. Rosa, Brunno H.L. Sampaio, Bruno C. Bellini, Bruno Clarkson, Bruno G. de Oliveira, Caio C.D. Corrêa, Caleb C. Martins, Camila F. de Castro-Guedes, Camilla Souto, Carla de L. Bicho, Carlo M. Cunha, Carlos A. de M. Barboza, Carlos A.S. de Lucena, Carlos Barreto, Carlos D.C.M. de Santana, Carlos E.Q. Agne, Carlos G.C. Mielke, Carlos H.S. Caetano, Carlos H.W. Flechtmann, Carlos J.E. Lamas, Carlos Rocha, Carolina S. Mascarenhas, Cecilia B. Margaría, Cecilia Waichert, Celina Digiani, Célio F.B. Haddad, Celso O. Azevedo, Cesar J. Benetti, Charles M.D. dos Santos, Charles R. Bartlett, Cibele Bonvicino, Cibele S. Ribeiro-Costa, Cinthya S.G. Santos, Cíntia E.L. Justino, Clarissa Canedo, Claudia C. Bonecker, Cláudia P. Santos, Claudio J.B. de Carvalho, Clayton C. Gonçalves, Cleber Galvão, Cleide Costa, Cléo D.C. de Oliveira, Cristiano F. Schwertner, Cristiano L. Andrade, Cristiano M. Pereira, Cristiano Sampaio, Cristina de O. Dias, Daercio A. de A. Lucena, Daiara Manfio, Dalton de S. Amorim, Dalva L. de Queiroz, Daniara Colpani, Daniel Abbate, Daniel A. Aquino, Daniel Burckhardt, Daniel C. Cavallari, Daniel de C. Schelesky Prado, Daniel L. Praciano, Daniel S. Basílio, Daniela de C. Bená, Daniela G.P. de Toledo, Daniela M. Takiya, Daniell R.R. Fernandes, Danilo C. Ament, Danilo P. Cordeiro, Darliane E. Silva, Darren A. Pollock, David B. Muniz, David I. Gibson, David S. Nogueira, Dayse W.A. Marques, Débora Lucatelli, Deivys M.A. Garcia, Délio Baêta, Denise N.M. Ferreira, Diana Rueda-Ramírez, Diego A. Fachin, Diego de S. Souza, Diego F. Rodrigues, Diego G. de Pádua, Diego N. Barbosa, Diego R. Dolibaina, Diogo C. Amaral, Donald S. Chandler, Douglas H.B. Maccagnan, Edilson Caron, Edrielly Carvalho, Edson A. Adriano, Edson F. de Abreu Júnior, Edson H.L. Pereira, Eduarda F.G. Viegas, Eduardo Carneiro, Eduardo Colley, Eduardo Eizirik, Eduardo F. dos Santos, Eduardo M. Shimbori, Eduardo Suárez-Morales, Eliane P. de Arruda, Elisandra A. Chiquito, Élison F.B. Lima, Elizeu B. de Castro, Elton Orlandin, Elynton A. do Nascimento, Emanuel Razzolini, Emanuel R.R. Gama, Enilma M. de Araujo, Eric Y. Nishiyama, Erich L. Spiessberger, Érika C.L. dos Santos, Eugenia F. Contreras, Eunice A.B. Galati, Evaldo C. de Oliveira Junior, Fabiana Gallardo, Fabio A. Hernandes, Fábio A. Lansac-Tôha, Fabio B. Pitombo, Fabio Di Dario, Fábio L. dos Santos, Fabio Mauro, Fabio O. do Nascimento, Fabio Olmos, Fabio R. Amaral, Fabio Schunck, Fábio S. P. de Godoi, Fabrizio M. Machado, Fausto E. Barbo, Federico A. Agrain, Felipe B. Ribeiro, Felipe F.F. Moreira, Felipe F. Barbosa, Fenanda S. Silva, Fernanda F. Cavalcanti, Fernando C. Straube, Fernando Carbayo, Fernando Carvalho Filho, Fernando C.V. Zanella, Fernando de C. Jacinavicius, Fernando H.A. Farache, Fernando Leivas, Fernando M.S. Dias, Fernando Mantellato, Fernando Z. Vaz-de-Mello, Filipe M. Gudin, Flávio Albuquerque, Flavio B. Molina, Flávio D. Passos, Floyd W. Shockley, Francielly F. Pinheiro, Francisco de A.G. de Mello, Francisco E. de L. Nascimento, Francisco L. Franco, Francisco L. de Oliveira, Francisco T. de V. Melo, Freddy R.B. Quijano, Frederico F. Salles, Gabriel Biffi, Gabriel C. Queiroz, Gabriel L. Bizarro, Gabriela Hrycyna, Gabriela Leviski, Gareth S. Powell, Geane B. dos Santos, Geoffrey E. Morse, George Brown, George M.T. Mattox, Geraldo Zimbrão, Gervásio S. Carvalho, Gil F.G. Miranda, Gilberto J. de Moraes, Gilcélia M. Lourido, Gilmar P. Neves, Gilson R.P. Moreira, Giovanna G. Montingelli, Giovanni N. Maurício, Gláucia Marconato, Guilherme E.L. Lopez, Guilherme L. da Silva, Guilherme Muricy, Guilherme R.R. Brito, Guilherme S.T. Garbino, Gustavo E. Flores, Gustavo Graciolli, Gustavo S. Libardi, Heather C. Proctor, Helcio R. Gil-Santana, Henrique R. Varella, Hermes E. Escalona, Hermes J. Schmitz, Higor D.D. Rodrigues, Hilton de C. Galvão Filho, Hingrid Y.S. Quintino, Hudson A. Pinto, Hugo L. Rainho, Igor C. Miyahira, Igor de S. Gonçalves, Inês X. Martins, Irene A. Cardoso, Ismael B. de Oliveira, Ismael Franz, Itanna O. Fernandes, Ivan F. Golfetti, Ivanklin S. Campos-Filho, Ivo de S. Oliveira, Jacques H.C. Delabie, Jader de Oliveira, Jadila S. Prando, James L. Patton, Jamille de A. Bitencourt, Janaina M. Silva, Jandir C. Santos, Janine O. Arruda, Jefferson S. Valderrama, Jeronymo Dalapicolla, Jéssica P. Oliveira, Jiri Hájek, João P. Morselli, João P. Narita, João P.I. Martin, Jocélia Grazia, Joe McHugh, Jorge J. Cherem, José A.S. Farias Júnior, Jose A.M. Fernandes, José F. Pacheco, José L.O. Birindelli, José M. Rezende, Jose M. Avendaño, José M. Barbanti Duarte, José R. Inácio Ribeiro, José R.M. Mermudes, José R. Pujol-Luz, Josenilson R. dos Santos, Josenir T. Câmara, Joyce A. Teixeira, Joyce R. do Prado, Juan P. Botero, Julia C. Almeida, Julia Kohler, Julia P. Gonçalves, Julia S. Beneti, Julian P. Donahue, Juliana Alvim, Juliana C. Almeida, Juliana L. Segadilha, Juliana M. Wingert, Julianna F. Barbosa, Juliano Ferrer, Juliano F. dos Santos, Kamila M.D. Kuabara, Karine B. Nascimento, Karine Schoeninger, Karla M. Campião, Karla Soares, Kássia Zilch, Kim R. Barão, Larissa Teixeira, Laura D. do N.M. de Sousa, Leandro L. Dumas, Leandro M. Vieira, Leonardo H.G. Azevedo, Leonardo S. Carvalho, Leonardo S. de Souza, Leonardo S.G. Rocha, Leopoldo F.O. Bernardi, Letícia M. Vieira, Liana Johann, Lidianne Salvatierra, Livia de M. Oliveira, Lourdes M.A. El-moor Loureiro, Luana B. Barreto, Luana M. Barros, Lucas Lecci, Lucas M. de Camargos, Lucas R.C. Lima, Lucia M. Almeida, Luciana R. Martins, Luciane Marinoni, Luciano de A. Moura, Luciano Lima, Luciano N. Naka, Lucília S. Miranda, Lucy M. Salik, Luis E.A. Bezerra, Luis F. Silveira, Luiz A. Campos, Luiz A.S. de Castro, Luiz C. Pinho, Luiz F.L. Silveira, Luiz F.M. Iniesta, Luiz F.C. Tencatt, Luiz R.L. Simone, Luiz R. Malabarba, Luiza S. da Cruz, Lukas Sekerka, Lurdiana D. Barros, Luziany Q. Santos, Maciej Skoracki, Maira A. Correia, Manoel A. Uchoa, Manuella F.G. Andrade, Marcel G. Hermes, Marcel S. Miranda, Marcel S. de Araújo, Marcela L. Monné, Marcelo B. Labruna, Marcelo D. de Santis, Marcelo Duarte, Marcelo Knoff, Marcelo Nogueira, Marcelo R. de Britto, Marcelo R.S. de Melo, Marcelo R. de Carvalho, Marcelo T. Tavares, Marcelo V. Kitahara, Marcia C.N. Justo, Marcia J.C. Botelho, Márcia S. Couri, Márcio Borges-Martins, Márcio Felix, Marcio L. de Oliveira, Marco A. Bologna, Marco S. Gottschalk, Marcos D.S. Tavares, Marcos G. Lhano, Marcus Bevilaqua, Marcus T.T. Santos, Marcus V. Domingues, Maria A.M. Sallum, María C. Digiani, Maria C.A. Santarém, Maria C. do Nascimento, María de los A.M. Becerril, Maria E.A. dos Santos, Maria I. da S. dos Passos, Maria L. Felippe-Bauer, Mariana A. Cherman, Mariana Terossi, Marie L.C. Bartz, Marina F. de C. Barbosa, Marina V. Loeb, Mario Cohn-Haft, Mario Cupello, Marlúcia B. Martins, Martin L. Christofersen, Matheus Bento, Matheus dos S. Rocha, Maurício L. Martins, Melissa O. Segura, Melissa Q. Cardenas, Mércia E. Duarte, Michael A. Ivie, Michael M. Mincarone, Michela Borges, Miguel A. Monné, Mirna M. Casagrande, Monica A. Fernandez, Mônica Piovesan, Naércio A. Menezes, Natalia P. Benaim, Natália S. Reategui, Natan C. Pedro, Nathalia H. Pecly, Nelson Ferreira Júnior, Nelson J. da Silva Júnior, Nelson W. Perioto, Neusa Hamada, Nicolas Degallier, Ning L. Chao, Noeli J. Ferla, Olaf H.H. Mielke, Olivia Evangelista, Oscar A. Shibatta, Otto M.P. Oliveira, Pablo C.L. Albornoz, Pablo M. Dellapé, Pablo R. Gonçalves, Paloma H.F. Shimabukuro, Paschoal Grossi, Patrícia E. da S. Rodrigues, Patricia O.V. Lima, Paul Velazco, Paula B. dos Santos, Paula B. Araújo, Paula K.R. Silva, Paula R. Riccardi, Paulo C. de A. Garcia, Paulo G.H. Passos, Paulo H.C. Corgosinho, Paulo Lucinda, Paulo M.S. Costa, Paulo P. Alves, Paulo R. de O. Roth, Paulo R.S. Coelho, Paulo R.M. Duarte, Pedro F. de Carvalho, Pedro Gnaspini, Pedro G.B. Souza-Dias, Pedro M. Linardi, Pedro R. Bartholomay, Peterson R. Demite, Petr Bulirsch, Piter K. Boll, Rachel M.M. Pereira, Rafael A.P.F. Silva, Rafael B. de Moura, Rafael Boldrini, Rafaela A. da Silva, Rafaela L. Falaschi, Ralf T.S. Cordeiro, Ramon J.C.L. Mello, Randal A. Singer, Ranyse B. Querino, Raphael A. Heleodoro, Raphael de C. Castilho, Reginaldo Constantino, Reinaldo C. Guedes, Renan Carrenho, Renata S. Gomes, Renato Gregorin, Renato J.P. Machado, Renato S. Bérnils, Renato S. Capellari, Ricardo B. Silva, Ricardo Kawada, Ricardo M. Dias, Ricardo Siewert, Ricaro Brugnera, Richard A.B. Leschen, Robert Constantin, Robert Robbins, Roberta R. Pinto, Roberto E. dos Reis, Robson T. da C. Ramos, Rodney R. Cavichioli, Rodolfo C. de Barros, Rodrigo A. Caires, Rodrigo B. Salvador, Rodrigo C. Marques, Rodrigo C. Araújo, Rodrigo de O. Araujo, Rodrigo de V.P. Dios, Rodrigo Johnsson, Rodrigo M. Feitosa, Roger W. Hutchings, Rogéria I.R. Lara, Rogério V. Rossi, Roland Gerstmeier, Ronald Ochoa, Rosa S.G. Hutchings, Rosaly Ale-Rocha, Rosana M. da Rocha, Rosana Tidon, Rosangela Brito, Roseli Pellens, Sabrina R. dos Santos, Sandra D. dos Santos, Sandra V. Paiva, Sandro Santos, Sarah S. de Oliveira, Sávio C. Costa, Scott L. Gardner, Sebastián A. Muñoz Leal, Sergio Aloquio, Sergio L.C. Bonecker, Sergio L. de S. Bueno, Sérgio M. de Almeida, Sérgio N. Stampar, Sérgio R. Andena, Sergio R. Posso, Sheila P. Lima, Sian de S. Gadelha, Silvana C. Thiengo, Simone C. Cohen, Simone N. Brandão, Simone P. Rosa, Síria L.B. Ribeiro, Sócrates D. Letana, Sonia B. dos Santos, Sonia C.S. Andrade, Stephane Dávila, Stéphanie Vaz, Stewart B. Peck, Susete W. Christo, Suzan B.Z. Cunha, Suzete R. Gomes, Tácio Duarte, Taís Madeira-Ott, Taísa Marques, Talita Roell, Tarcilla C. de Lima, Tatiana A. Sepulveda, Tatiana F. Maria, Tatiana P. Ruschel, Thaiana Rodrigues, Thais A. Marinho, Thaís M. de Almeida, Thaís P. Miranda, Thales R.O. Freitas, Thalles P.L. Pereira, Thamara Zacca, Thaynara L. Pacheco, Thiago F. Martins, Thiago M. Alvarenga, Thiago R. de Carvalho, Thiago T.S. Polizei, Thomas C. McElrath, Thomas Henry, Tiago G. Pikart, Tiago J. Porto, Tiago K. Krolow, Tiago P. Carvalho, Tito M. da C. Lotufo, Ulisses Caramaschi, Ulisses dos S. Pinheiro, Ulyses F.J. Pardiñas, Valéria C. Maia, Valeria Tavares, Valmir A. Costa, Vanessa S. do Amaral, Vera C. Silva, Vera R. dos S. Wolff, Verônica Slobodian, Vinícius B. da Silva, Vinicius C. Espíndola, Vinicius da Costa-Silva, Vinicius de A. Bertaco, Vinícius Padula, Vinicius S. Ferreira, Vitor C.P. da Silva, Vítor de Q. Piacentini, Vivian E. Sandoval-Gómez, Vivian Trevine, Viviane R. Sousa, Vivianne B. de Sant’Anna, Wayne N. Mathis, Wesley de O. Souza, Wesley D. Colombo, Wioletta Tomaszewska, Wolmar B. Wosiacki, Ximena M.C. Ovando, and Yuri L.R. Leite

Subjects
Biodiversity, knowledge management, taxonomy, web services, zoology, Zoology, QL1-991
Abstract

ABSTRACT The limited temporal completeness and taxonomic accuracy of species lists, made available in a traditional manner in scientific publications, has always represented a problem. These lists are invariably limited to a few taxonomic groups and do not represent up-to-date knowledge of all species and classifications. In this context, the Brazilian megadiverse fauna is no exception, and the Catálogo Taxonômico da Fauna do Brasil (CTFB) (http://fauna.jbrj.gov.br/), made public in 2015, represents a database on biodiversity anchored on a list of valid and expertly recognized scientific names of animals in Brazil. The CTFB is updated in near real time by a team of more than 800 specialists. By January 1, 2024, the CTFB compiled 133,691 nominal species, with 125,138 that were considered valid. Most of the valid species were arthropods (82.3%, with more than 102,000 species) and chordates (7.69%, with over 11,000 species). These taxa were followed by a cluster composed of Mollusca (3,567 species), Platyhelminthes (2,292 species), Annelida (1,833 species), and Nematoda (1,447 species). All remaining groups had less than 1,000 species reported in Brazil, with Cnidaria (831 species), Porifera (628 species), Rotifera (606 species), and Bryozoa (520 species) representing those with more than 500 species. Analysis of the CTFB database can facilitate and direct efforts towards the discovery of new species in Brazil, but it is also fundamental in providing the best available list of valid nominal species to users, including those in science, health, conservation efforts, and any initiative involving animals. The importance of the CTFB is evidenced by the elevated number of citations in the scientific literature in diverse areas of biology, law, anthropology, education, forensic science, and veterinary science, among others.

Published
2024
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30. Causality in acute encephalitis: defining aetiologies

Author

GRANEROD, J., CUNNINGHAM, R., ZUCKERMAN, M., MUTTON, K., DAVIES, N. W. S., WALSH, A. L., WARD, K. N., HILTON, D. A., AMBROSE, H. E., CLEWLEY, J. P., MORGAN, D., LUNN, M. P., SOLOMON, T., BROWN, D. W. G., and CROWCROFT, N. S.

Published
2010

36. DMD - BIOMARKERS

Author

Catapano, F., primary, Ellis, M., additional, Torelli, S., additional, Chambers, D., additional, Evangelista, T., additional, Leturcq, F., additional, Natera-de Benito, D., additional, Jimenez-Mallebrera, C., additional, Marini-Bettolo, C., additional, Charlton, R., additional, Stenzel, W., additional, Dittmayer, C., additional, Schänzer, A., additional, Hilton, D., additional, Lilleker, J., additional, Roncaroli, F., additional, Sarkozy, A., additional, Muntoni, F., additional, and Phadke, R., additional

Published
2021
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39. An expanded conformation of an antibody Fab region by X-ray scattering, molecular dynamics, and smFRET identifies an aggregation mechanism

Author

Codina, N., Hilton, D., Zhang, C., Chakroun, N., Ahmad, S.S., Perkins, S.J., and Dalby, P.A.

Abstract

Protein aggregation is the underlying cause of many diseases, and also limits the usefulness of many natural and engineered proteins in biotechnology. Better mechanistic understanding and characterization of aggregation-prone states is needed to guide protein engineering, formulation, and drug-targeting strategies that prevent aggregation. While several final aggregated states—notably amyloids—have been characterized structurally, very little is known about the native structural conformers that initiate aggregation. We used a novel combination of small-angle x-ray scattering (SAXS), atomistic molecular dynamic simulations, single-molecule Förster resonance energy transfer, and aggregation-prone region predictions, to characterize structural changes in a native humanized Fab A33 antibody fragment, that correlated with the experimental aggregation kinetics. SAXS revealed increases in the native state radius of gyration, Rg, of 2.2% to 4.1%, at pH 5.5 and below, concomitant with accelerated aggregation. In a cutting-edge approach, we fitted the SAXS data to full MD simulations from the same conditions and located the conformational changes in the native state to the constant domain of the light chain (CL). This CL displacement was independently confirmed using single-molecule Förster resonance energy transfer measurements with two dual-labeled Fabs. These conformational changes were also found to increase the solvent exposure of a predicted APR, suggesting a likely mechanism through which they promote aggregation. Our findings provide a means by which aggregation-prone conformational states can be readily determined experimentally, and thus potentially used to guide protein engineering, or ligand binding strategies, with the aim of stabilizing the protein against aggregation.

Published
2019

44. COVID-19 vaccine coverage in health-care workers in England and effectiveness of BNT162b2 mRNA vaccine against infection (SIREN): a prospective, multicentre, cohort study

Author

Hall, Victoria Jane, primary, Foulkes, Sarah, additional, Saei, Ayoub, additional, Andrews, Nick, additional, Oguti, Blanche, additional, Charlett, Andre, additional, Wellington, Edgar, additional, Stowe, Julia, additional, Gillson, Natalie, additional, Atti, Ana, additional, Islam, Jasmin, additional, Karagiannis, Ioannis, additional, Munro, Katie, additional, Khawam, Jameel, additional, Chand, Meera A, additional, Brown, Colin S, additional, Ramsay, Mary, additional, Lopez-Bernal, Jamie, additional, Hopkins, Susan, additional, Andrews, N, additional, Atti, A, additional, Aziz, H, additional, Brooks, T, additional, Brown, CS, additional, Camero, D, additional, Carr, C, additional, Chand, MA, additional, Charlett, A, additional, Crawford, H, additional, Cole, M, additional, Conneely, J, additional, D'Arcangelo, S, additional, Ellis, J, additional, Evans, S, additional, Foulkes, S, additional, Gillson, N, additional, Gopal, R, additional, Hall, L, additional, Hall, VJ, additional, Harrington, P, additional, Hopkins, S, additional, Hewson, J, additional, Hoschler, K, additional, Ironmonger, D, additional, Islam, J, additional, Kall, M, additional, Karagiannis, I, additional, Kay, O, additional, Khawam, J, additional, King, E, additional, Kirwan, P, additional, Kyffin, R, additional, Lackenby, A, additional, Lattimore, M, additional, Linley, E, additional, Lopez-Bernal, J, additional, Mabey, L, additional, McGregor, R, additional, Miah, S, additional, Monk, EJM, additional, Munro, K, additional, Naheed, Z, additional, Nissr, A, additional, O'Connell, AM, additional, Oguti, B, additional, Okafor, H, additional, Organ, S, additional, Osbourne, J, additional, Otter, A, additional, Patel, M, additional, Platt, S, additional, Pople, D, additional, Potts, K, additional, Ramsay, M, additional, Robotham, J, additional, Rokadiya, S, additional, Rowe, C, additional, Saei, A, additional, Sebbage, G, additional, Semper, A, additional, Shrotri, M, additional, Simmons, R, additional, Soriano, A, additional, Staves, P, additional, Taylor, S, additional, Taylor, A, additional, Tengbe, A, additional, Tonge, S, additional, Vusirikala, A, additional, Wallace, S, additional, Wellington, E, additional, Zambon, M, additional, Corrigan, D, additional, Sartaj, M, additional, Cromey, L, additional, Campbell, S, additional, Braithwaite, K, additional, Price, L, additional, Haahr, L, additional, Stewart, S, additional, Lacey, ED, additional, Partridge, L, additional, Stevens, G, additional, Ellis, Y, additional, Hodgson, H, additional, Norman, C, additional, Larru, B, additional, Mcwilliam, S, additional, Roynon, A, additional, Northfield, J, additional, Winchester, S, additional, Cieciwa, P, additional, Pai, A, additional, Bakker, P, additional, Loughrey, C, additional, Watt, A, additional, Adair, F, additional, Hawkins, A, additional, Grant, A, additional, Temple-Purcell, R, additional, Howard, J, additional, Slawson, N, additional, Subudhi, C, additional, Davies, S, additional, Bexley, A, additional, Penn, R, additional, Wong, N, additional, Boyd, G, additional, Rajgopal, A, additional, Arenas-Pinto, A, additional, Matthews, R, additional, Whileman, A, additional, Laugharne, R, additional, Ledger, J, additional, Barnes,, T, additional, Jones, C, additional, Osuji, N, additional, Chitalia, N, additional, Bailey, T, additional, Akhtar, S, additional, Harrison, G, additional, Horne, S, additional, Walker, N, additional, Agwuh, K, additional, Maxwell, V, additional, Graves, J, additional, Williams, S, additional, O'Kelly, A, additional, Ridley, P, additional, Cowley, A, additional, Johnstone, H, additional, Swift, P, additional, Democratis, J, additional, Meda, M, additional, Brake, S, additional, Gunn, J, additional, Selassi, A, additional, Hams, S, additional, Irvine, V, additional, Chandrasekaran, B, additional, Forsyth, C, additional, Radmore, J, additional, Thomas, C, additional, Brown, K, additional, Roberts, S, additional, Burns, P, additional, Gajee, K, additional, Lewis, T, additional, Byrne, TM, additional, Sanderson, F, additional, Knight, S, additional, Macnaughton, E, additional, Burton, BJL, additional, Smith, H, additional, Chaudhuri, R, additional, Aeron-Thomas, J, additional, Hollinshead, K, additional, Shorten, RJ, additional, Swan, A, additional, Favager, C, additional, Murira, J, additional, Baillon, S, additional, Hamer, S, additional, Shah, A, additional, Russell, J, additional, Brennan, D, additional, Dave, A, additional, Chawla, A, additional, Westwell, F, additional, Adeboyeku, D, additional, Papineni, P, additional, Pegg, C, additional, Williams, M, additional, Ahmad, S, additional, Horsley, A, additional, Gabriel, C, additional, Pagget, K, additional, Maloney, G, additional, Ashcroft, J, additional, Del Rosario, I, additional, Crosby-Nwaobi, R, additional, Flanagan, D, additional, Dhasmana, D, additional, Fowler, S, additional, Cameron, E, additional, Prentice, L, additional, Sinclair, C, additional, Bateman, V, additional, McLelland-Brooks, K, additional, Ho, A, additional, Murphy, M, additional, Cochrane, A, additional, Gibson, A, additional, Black, K, additional, Tempeton, K, additional, Donaldson, S, additional, Coke, L, additional, Elumogo, N, additional, Elliott, J, additional, Padgett, D, additional, Cross, A, additional, Mirfenderesky, M, additional, Joyce, S, additional, Sinanovic, I, additional, Howard, M, additional, Cowling, P, additional, Brazil, M, additional, Hanna, E, additional, Abdelrazik, A, additional, Brand, S, additional, Sheridan, EA, additional, Wadams, B, additional, Lloyd, A, additional, Mouland, J, additional, Giles, J, additional, Pottinger, G, additional, Coles, H, additional, Joseph, M, additional, Lee, M, additional, Orr, S, additional, Chenoweth, H, additional, Browne, D, additional, Auckland, C, additional, Lear, R, additional, Mahungu, T, additional, Rodger, A, additional, Warren, S, additional, Brooking, D, additional, Pai, S, additional, Druyeh, R, additional, Smith, E, additional, Stone, S, additional, Meisner, S, additional, Delgado, D, additional, Underhill, E, additional, Keen, L, additional, Aga, M, additional, Domingos, P, additional, Gormley, S, additional, Kerrison, C, additional, Birch, S, additional, DeSilva, T, additional, Allsop, L, additional, Ambalkar, S, additional, Beekes, M, additional, Jose, S, additional, Tomlinson, J, additional, Painter, Sharen, additional, Price, C, additional, Pepperell, J, additional, James, K, additional, Trinick, T, additional, Moore, L, additional, Day, J, additional, Boulos, A, additional, Knox, I, additional, Defever, E, additional, McCracken, D, additional, Gray, K, additional, Houston, A, additional, Planche, T, additional, Pritchard Jones, R, additional, Wycherley, Diane, additional, Bennett, S, additional, Marrs, J, additional, Nimako, K, additional, Stewart, B, additional, Bain, SC, additional, Kalakonda, N, additional, Khanduri, S, additional, Ashby, A, additional, Holden, M, additional, Mahabir, N, additional, Harwood, J, additional, Payne, B, additional, Court, K, additional, White, N, additional, Longfellow, R, additional, Hughes, LE, additional, Green, ME, additional, Halkes, M, additional, Mercer, P, additional, Roebuck, A, additional, Wilson-Davies, E, additional, Gallego, L, additional, Lazarus, R, additional, Aldridge, N, additional, Berry, L, additional, Game, F, additional, Reynolds, T, additional, Holmes, C, additional, Wiselka, M, additional, Higham, A, additional, Booth, M, additional, Duff, C, additional, Alderton, J, additional, Hilton, D, additional, Powell, J, additional, Jackson, A, additional, Plant, AJ, additional, Ahmed, N, additional, Chin, T, additional, Qazzafi, MZ, additional, Moody, AM, additional, Tilley, RE, additional, Donaghy, T, additional, O'Kane, M, additional, Shipman, K, additional, Sierra, R, additional, Parmar, C, additional, Mills, G, additional, Harvey, D, additional, Huang, YWJ, additional, Birch, J, additional, Robinson, L, additional, Board, S, additional, Broadley, A, additional, Laven, C, additional, Todd, N, additional, Eyre, DW, additional, Jeffery, K, additional, Dunachie, S, additional, Duncan, C, additional, Klenerman, P, additional, Turtle, L, additional, Baxendale, H, additional, and Heeney, JL, additional

Published
2021
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45. Investigation of current models of care for genetic heart disease in Australia: A national clinical audit

Author

Austin, R, Quinn, MCJ, Afoakwah, C, Metke-Jimenez, A, Leroux, H, Atherton, J, Brown, JS, Wornham, LJ, Macciocca, I, de Silva, MG, Thompson, T, Martin, EM, Hilton, D, Devery, S, Wu, KHC, Jackson, MR, Correnti, G, Overkov, A, Elbracht-Leong, S, Ingles, J, Scuffham, P, Semsarian, C, McGaughran, J, Austin, R, Quinn, MCJ, Afoakwah, C, Metke-Jimenez, A, Leroux, H, Atherton, J, Brown, JS, Wornham, LJ, Macciocca, I, de Silva, MG, Thompson, T, Martin, EM, Hilton, D, Devery, S, Wu, KHC, Jackson, MR, Correnti, G, Overkov, A, Elbracht-Leong, S, Ingles, J, Scuffham, P, Semsarian, C, and McGaughran, J

Abstract

BACKGROUND: This sub-study of the Australian Genomics Cardiovascular Genetic Disorders Flagship sought to conduct the first nation-wide audit in Australia to establish the current practices across cardiac genetics clinics. METHOD: An audit of records of patients with a suspected genetic heart disease (cardiomyopathy, primary arrhythmia, autosomal dominant congenital heart disease) who had a cardiac genetics consultation between 1st January 2016 and 31 July 2018 and were offered a diagnostic genetic test. RESULTS: This audit included 536 records at multidisciplinary cardiac genetics clinics from 11 public tertiary hospitals across five Australian states. Most genetic consultations occurred in a clinic setting (90%), followed by inpatient (6%) and Telehealth (4%). Queensland had the highest proportion of Telehealth consultations (9% of state total). Sixty-six percent of patients had a clinical diagnosis of a cardiomyopathy, 28% a primary arrhythmia, and 0.7% congenital heart disease. The reason for diagnosis was most commonly as a result of investigations of symptoms (73%). Most patients were referred by a cardiologist (85%), followed by a general practitioner (9%) and most genetic tests were funded by the state Genetic Health Service (73%). Nationally, 29% of genetic tests identified a pathogenic or likely pathogenic gene variant; 32% of cardiomyopathies, 26% of primary arrhythmia syndromes, and 25% of congenital heart disease. CONCLUSION: We provide important information describing the current models of care for genetic heart diseases throughout Australia. These baseline data will inform the implementation and impact of whole genome sequencing in the Australian healthcare landscape.

Published
2021

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