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1. Universal DNA methylation age across mammalian tissues.

Author

Lu, A, Fei, Z, Haghani, A, Robeck, T, Zoller, J, Li, C, Lowe, R, Yan, Q, Zhang, J, Vu, H, Ablaeva, J, Acosta-Rodriguez, V, Adams, D, Almunia, J, Aloysius, A, Ardehali, R, Arneson, A, Baker, C, Banks, G, Belov, K, Bennett, N, Black, P, Bors, E, Breeze, C, Brooke, R, Brown, J, Carter, G, Caulton, A, Cavin, J, Chakrabarti, L, Chatzistamou, I, Chen, H, Cheng, K, Chiavellini, P, Choi, O, Clarke, S, Cooper, L, Cossette, M, Day, J, DeYoung, J, DiRocco, S, Dold, C, Ehmke, E, Emmons, C, Emmrich, S, Erbay, E, Erlacher-Reid, C, Faulkes, C, Ferguson, S, Flower, J, Gaillard, J, Garde, E, Gerber, L, Gladyshev, V, Gorbunova, V, Goya, R, Grant, M, Green, C, Hales, E, Hanson, M, Hart, D, Haulena, M, Herrick, K, Hogan, A, Hogg, C, Hore, T, Izpisua Belmonte, J, Jasinska, A, Jones, G, Jourdain, E, Kashpur, O, Katcher, H, Katsumata, E, Kaza, V, Kiaris, H, Kobor, M, Kordowitzki, P, Koski, W, Krützen, M, Kwon, S, Larison, B, Lee, S, Lehmann, M, Lemaitre, J, Lim, A, Lin, D, Lindemann, D, Little, T, Macoretta, N, Maddox, D, Matkin, C, Mattison, J, McClure, M, Mergl, J, Meudt, J, Montano, G, Mozhui, K, Munshi-South, J, Naderi, A, and Nagy, M

Subjects
Humans, Mice, Animals, DNA Methylation, Epigenesis, Genetic, Aging, Longevity, Mammals
Abstract

Aging, often considered a result of random cellular damage, can be accurately estimated using DNA methylation profiles, the foundation of pan-tissue epigenetic clocks. Here, we demonstrate the development of universal pan-mammalian clocks, using 11,754 methylation arrays from our Mammalian Methylation Consortium, which encompass 59 tissue types across 185 mammalian species. These predictive models estimate mammalian tissue age with high accuracy (r > 0.96). Age deviations correlate with human mortality risk, mouse somatotropic axis mutations and caloric restriction. We identified specific cytosines with methylation levels that change with age across numerous species. These sites, highly enriched in polycomb repressive complex 2-binding locations, are near genes implicated in mammalian development, cancer, obesity and longevity. Our findings offer new evidence suggesting that aging is evolutionarily conserved and intertwined with developmental processes across all mammals.

Published
2023

2. Tutorial on the stochastic simulation of dissipative quantum oscillators.

Author

Hogg, C. R., Glatthard, J., Cerisola, F., and Anders, J.

Subjects
*STOCHASTIC processes, *SYSTEM dynamics, *NOISE
Abstract

Generic open quantum systems are notoriously difficult to simulate unless one looks at specific regimes. In contrast, classical dissipative systems can often be effectively described by stochastic processes, which are generally less computationally expensive. Here, we use the paradigmatic case of a dissipative quantum oscillator to give a pedagogic introduction to the modeling of open quantum systems using quasiclassical methods, i.e., classical stochastic methods that use a "quantum" noise spectrum to capture the influence of the environment on the system. Such quasiclassical methods have the potential to offer insights into the impact of the quantum nature of the environment on the dynamics of the system of interest while still being computationally tractable. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Author Correction: Universal DNA methylation age across mammalian tissues

Author

Lu, A. T., Fei, Z., Haghani, A., Robeck, T. R., Zoller, J. A., Li, C. Z., Lowe, R., Yan, Q., Zhang, J., Vu, H., Ablaeva, J., Acosta-Rodriguez, V. A., Adams, D. M., Almunia, J., Aloysius, A., Ardehali, R., Arneson, A., Baker, C. S., Banks, G., Belov, K., Bennett, N. C., Black, P., Blumstein, D. T., Bors, E. K., Breeze, C. E., Brooke, R. T., Brown, J. L., Carter, G. G., Caulton, A., Cavin, J. M., Chakrabarti, L., Chatzistamou, I., Chen, H., Cheng, K., Chiavellini, P., Choi, O. W., Clarke, S. M., Cooper, L. N., Cossette, M. L., Day, J., DeYoung, J., DiRocco, S., Dold, C., Ehmke, E. E., Emmons, C. K., Emmrich, S., Erbay, E., Erlacher-Reid, C., Faulkes, C. G., Ferguson, S. H., Finno, C. J., Flower, J. E., Gaillard, J. M., Garde, E., Gerber, L., Gladyshev, V. N., Gorbunova, V., Goya, R. G., Grant, M. J., Green, C. B., Hales, E. N., Hanson, M. B., Hart, D. W., Haulena, M., Herrick, K., Hogan, A. N., Hogg, C. J., Hore, T. A., Huang, T., Izpisua Belmonte, J. C., Jasinska, A. J., Jones, G., Jourdain, E., Kashpur, O., Katcher, H., Katsumata, E., Kaza, V., Kiaris, H., Kobor, M. S., Kordowitzki, P., Koski, W. R., Krützen, M., Kwon, S. B., Larison, B., Lee, S. G., Lehmann, M., Lemaitre, J. F., Levine, A. J., Li, C., Li, X., Lim, A. R., Lin, D. T. S., Lindemann, D. M., Little, T. J., Macoretta, N., Maddox, D., Matkin, C. O., Mattison, J. A., McClure, M., Mergl, J., Meudt, J. J., Montano, G. A., Mozhui, K., Munshi-South, J., Naderi, A., Nagy, M., Narayan, P., Nathanielsz, P. W., Nguyen, N. B., Niehrs, C., O’Brien, J. K., O’Tierney Ginn, P., Odom, D. T., Ophir, A. G., Osborn, S., Ostrander, E. A., Parsons, K. M., Paul, K. C., Pellegrini, M., Peters, K. J., Pedersen, A. B., Petersen, J. L., Pietersen, D. W., Pinho, G. M., Plassais, J., Poganik, J. R., Prado, N. A., Reddy, P., Rey, B., Ritz, B. R., Robbins, J., Rodriguez, M., Russell, J., Rydkina, E., Sailer, L. L., Salmon, A. B., Sanghavi, A., Schachtschneider, K. M., Schmitt, D., Schmitt, T., Schomacher, L., Schook, L. B., Sears, K. E., Seifert, A. W., Seluanov, A., Shafer, A. B. A., Shanmuganayagam, D., Shindyapina, A. V., Simmons, M., Singh, K., Sinha, I., Slone, J., Snell, R. G., Soltanmaohammadi, E., Spangler, M. L., Spriggs, M. C., Staggs, L., Stedman, N., Steinman, K. J., Stewart, D. T., Sugrue, V. J., Szladovits, B., Takahashi, J. S., Takasugi, M., Teeling, E. C., Thompson, M. J., Van Bonn, B., Vernes, S. C., Villar, D., Vinters, H. V., Wallingford, M. C., Wang, N., Wayne, R. K., Wilkinson, G. S., Williams, C. K., Williams, R. W., Yang, X. W., Yao, M., Young, B. G., Zhang, B., Zhang, Z., Zhao, P., Zhao, Y., Zhou, W., Zimmermann, J., Ernst, J., Raj, K., and Horvath, S.

Published
2023
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7. HERA and the LHC - A workshop on the implications of HERA for LHC physics: Proceedings - Part A

Author

Alekhin, S., Altarelli, G., Amapane, N., Andersen, J., Andreev, V., Arneodo, M., Avati, V., Baines, J., Ball, R. D., Banfi, A., Baranov, S. P., Bartels, J., Behnke, O., Bellan, R., Blumlein, J., Bottcher, H., Bolognesi, S., Boonekamp, M., Bourilkov, D., Bracinik, J., Bruni, A., Bruni, G., Buckley, A., Bunyatyan, A., Buttar, C. M., Butterworth, J. M., Butterworth, S., Cacciari, M., Carli, T., Cerminara, G., Chekanov, S., Ciafaloni, M., Colferai, D., Collins, J., Cooper-Sarkar, A., Corcella, G., Corradi, M., Cox, B. E., Croft, R., Czyczula, Z., Dainese, A., Dasgupta, M., Davatz, G., Del Debbio, L., Delenda, Y., De Roeck, A., Diehl, M., Diglio, S., Dissertori, G., Dittmar, M., Ellis, J., Eskola, K. J., Eynck, T. O., Feltesse, J., Ferro, F., Field, R. D., Forshaw, J., Forte, S., Geiser, A., Gieseke, S., Glazov, A., Gleisberg, T., Golonka, P., Gotsman, E., Grindhammer, G., Grothe, M., Group, C., Groys, M., Guffanti, A., Gustafson, G., Gwenlan, C., Hoche, S., Hogg, C., Huston, J., Iacobucci, G., Ingelman, G., Jadach, S., Jung, H., Kalliopuska, J., Kapishin, M., Kersevan, B., Khoze, V., Klasen, M., Klein, M., Kniehl, B. A., Kolhinen, V. J., Kowalski, H., Kramer, G., Krauss, F., Kretzer, S., Kutak, K., Lamsa, J. W., Lonnblad, L., Lastovicka, T., Lastovicka-Medin, G., Laenen, E., Lagouri, Th., Latorre, J. I., Lavesson, N., Lendermann, V., Levin, E., Levy, A., Lipatov, A. V., Lublinsky, M., Lytkin, L., Maki, T., Magnea, L., Maltoni, F., Mangano, M., Maor, U., Mariotti, C., Marola, N., Martin, A. D., Meyer, A., Moch, S., Monk, J., Moraes, A., Morsch, A., Motyka, L., Naftali, E., Newman, P., Nikitenko, A., Oljemark, F., Orava, R., Ottela, M., Osterberg, K., Peters, K., Petrucci, F., Piccione, A., Pilkington, A., Piotrzkowski, K., Piskounova, O. I., Proskuryakov, A., Prygarin, A., Pumplin, J., Rabbertz, K., Ranieri, R., Ravindran, V., Reisert, B., Richter-Was, E., Rinaldi, L., Robbe, P., Rodrigues, E., Rojo, J., Ruiz, H., Ruspa, M., Ryskin, M. G., Vera, A. Sabio, Salam, G. P., Schalicke, A., Schatzel, S., Schorner-Sadenius, T., Schienbein, I., Schilling, F-P., Schumann, S., Seymour, M. H., Siegert, F., Sjostrand, T., Skrzypek, M., Smith, J., Smizanska, M., Spiesberger, H., Schrempp, F., Stasto, A., Stenzel, H., Stirling, W. J., Szczypka, P., Tapprogge, S., Targett-Adams, C., Tasevsky, M., Teubner, T., Thorne, R. S., Tonazzo, A., Tricoli, A., Tuning, N., Turnau, J., Uwer, U., Van Mechelen, P., Venugopalan, R., Verducci, M., Vermaseren, J. A. M., Vogt, A., Vogt, R., Ward, B. F. L., Was, Z., Watt, G., Waugh, B. M., Weiser, C., Whalley, M. R., Wing, M., Winter, J., Yost, S. A., Zanderighi, G., and Zotov, N. P.

Subjects
High Energy Physics - Phenomenology
Abstract

The HERA electron--proton collider has collected 100 pb$^{-1}$ of data since its start-up in 1992, and recently moved into a high-luminosity operation mode, with upgraded detectors, aiming to increase the total integrated luminosity per experiment to more than 500 pb$^{-1}$. HERA has been a machine of excellence for the study of QCD and the structure of the proton. The Large Hadron Collider (LHC), which will collide protons with a centre-of-mass energy of 14 TeV, will be completed at CERN in 2007. The main mission of the LHC is to discover and study the mechanisms of electroweak symmetry breaking, possibly via the discovery of the Higgs particle, and search for new physics in the TeV energy scale, such as supersymmetry or extra dimensions. Besides these goals, the LHC will also make a substantial number of precision measurements and will offer a new regime to study the strong force via perturbative QCD processes and diffraction. For the full LHC physics programme a good understanding of QCD phenomena and the structure function of the proton is essential. Therefore, in March 2004, a one-year-long workshop started to study the implications of HERA on LHC physics. This included proposing new measurements to be made at HERA, extracting the maximum information from the available data, and developing/improving the theoretical and experimental tools. This report summarizes the results achieved during this workshop., Comment: Part A: plenary presentations, WG1: parton density functions, WG2: Multi-Jet final states and energy flows. 326 pages Part B: WG3: Heavy Quarks (Charm and Beauty), WG4: Diffraction, WG5: Monte Carlo Tools, 330 pages

Published
2006

8. HERA and the LHC - A workshop on the implications of HERA for LHC physics: Proceedings - Part B

Author

Alekhin, S., Altarelli, G., Amapane, N., Andersen, J., Andreev, V., Arneodo, M., Avati, V., Baines, J., Ball, R. D., Banfi, A., Baranov, S. P., Bartels, J., Behnke, O., Bellan, R., Blumlein, J., Bottcher, H., Bolognesi, S., Boonekamp, M., Bourilkov, D., Bracinik, J., Bruni, A., Bruni, G., Buckley, A., Bunyatyan, A., Buttar, C. M., Butterworth, J. M., Butterworth, S., Cacciari, M., Carli, T., Cerminara, G., Chekanov, S., Ciafaloni, M., Colferai, D., Collins, J., Cooper-Sarkar, A., Corcella, G., Corradi, M., Cox, B. E., Croft, R., Czyczula, Z., Dainese, A., Dasgupta, M., Davatz, G., Del Debbio, L., Delenda, Y., De Roeck, A., Diehl, M., Diglio, S., Dissertori, G., Dittmar, M., Ellis, J., Eskola, K. J., Eynck, T. O., Feltesse, J., Ferro, F., Field, R. D., Forshaw, J., Forte, S., Geiser, A., Gieseke, S., Glazov, A., Gleisberg, T., Golonka, P., Gotsman, E., Grindhammer, G., Grothe, M., Group, C., Groys, M., Guffanti, A., Gustafson, G., Gwenlan, C., Hoche, S., Hogg, C., Huston, J., Iacobucci, G., Ingelman, G., Jadach, S., Jung, H., Kalliopuska, J., Kapishin, M., Kersevan, B., Khoze, V., Klasen, M., Klein, M., Kniehl, B. A., Kolhinen, V. J., Kowalski, H., Kramer, G., Krauss, F., Kretzer, S., Kutak, K., Lamsa, J. W., Lonnblad, L., Lastovicka, T., Lastovicka-Medin, G., Laenen, E., Lagouri, Th., Latorre, J. I., Lavesson, N., Lendermann, V., Levin, E., Levy, A., Lipatov, A. V., Lublinsky, M., Lytkin, L., Maki, T., Magnea, L., Maltoni, F., Mangano, M., Maor, U., Mariotti, C., Marola, N., Martin, A. D., Meyer, A., Moch, S., Monk, J., Moraes, A., Morsch, A., Motyka, L., Naftali, E., Newman, P., Nikitenko, A., Oljemark, F., Orava, R., Ottela, M., Osterberg, K., Peters, K., Petrucci, F., Piccione, A., Pilkington, A., Piotrzkowski, K., Piskounova, O. I., Proskuryakov, A., Prygarin, A., Pumplin, J., Rabbertz, K., Ranieri, R., Ravindran, V., Reisert, B., Richter-Was, E., Rinaldi, L., Robbe, P., Rodrigues, E., Rojo, J., Ruiz, H., Ruspa, M., Ryskin, M. G., Vera, A. Sabio, Salam, G. P., Schalicke, A., Schatzel, S., Schorner-Sadenius, T., Schienbein, I., Schilling, F-P., Schumann, S., Seymour, M. H., Siegert, F., Sjostrand, T., Skrzypek, M., Smith, J., Smizanska, M., Spiesberger, H., Schrempp, F., Stasto, A., Stenzel, H., Stirling, W. J., Szczypka, P., Tapprogge, S., Targett-Adams, C., Tasevsky, M., Teubner, T., Thorne, R. S., Tonazzo, A., Tricoli, A., Tuning, N., Turnau, J., Uwer, U., Van Mechelen, P., Venugopalan, R., Verducci, M., Vermaseren, J. A. M., Vogt, A., Vogt, R., Ward, B. F. L., Was, Z., Watt, G., Waugh, B. M., Weiser, C., Whalley, M. R., Wing, M., Winter, J., Yost, S. A., Zanderighi, G., and Zotov, N. P.

Subjects
High Energy Physics - Phenomenology
Abstract

The HERA electron--proton collider has collected 100 pb$^{-1}$ of data since its start-up in 1992, and recently moved into a high-luminosity operation mode, with upgraded detectors, aiming to increase the total integrated luminosity per experiment to more than 500 pb$^{-1}$. HERA has been a machine of excellence for the study of QCD and the structure of the proton. The Large Hadron Collider (LHC), which will collide protons with a centre-of-mass energy of 14 TeV, will be completed at CERN in 2007. The main mission of the LHC is to discover and study the mechanisms of electroweak symmetry breaking, possibly via the discovery of the Higgs particle, and search for new physics in the TeV energy scale, such as supersymmetry or extra dimensions. Besides these goals, the LHC will also make a substantial number of precision measurements and will offer a new regime to study the strong force via perturbative QCD processes and diffraction. For the full LHC physics programme a good understanding of QCD phenomena and the structure function of the proton is essential. Therefore, in March 2004, a one-year-long workshop started to study the implications of HERA on LHC physics. This included proposing new measurements to be made at HERA, extracting the maximum information from the available data, and developing/improving the theoretical and experimental tools. This report summarizes the results achieved during this workshop., Comment: Part A: plenary presentations, WG1: parton density functions, WG2: Multi-Jet final states and energy flows. 326 pages Part B: WG3: Heavy Quarks (Charm and Beauty), WG4: Diffraction, WG5: Monte Carlo Tools, 330 pages. Figure 6 on page 411 replaced

Published
2006

16. Reproductive skew in a Vulnerable bird favors breeders that monopolize nest cavities.

Author

Stojanovic, D., McLennan, E., Olah, G., Cobden, M., Heinsohn, R., Manning, A. D., Alves, F., Hogg, C., and Rayner, L.

Subjects
TREE cavities, NATURAL selection, GENETIC variation, RESEARCH questions, SINGLE nucleotide polymorphisms
Abstract

Reproductive skew occurs when a few individuals monopolize breeding output, which can act as a mechanism of natural selection. However, when population sizes become small, reproductive skew can depress effective population size and worsen inbreeding. Identifying the cause of reproductive skew is important for mitigating its effect on conservation of small populations. We hypothesized that superb parrots Polytelis swainsonii, which strongly select for the morphology of tree cavity nests, may be reproductively skewed toward pairs that monopolize access to nests. We use SNP genotyping to reconstruct a pedigree, estimate molecular relatedness and genetic diversity of wild superb parrot in the Australian Capital Territory. We successfully genotyped 181 nestlings (a census between 2015–2019) and showed they were the progeny of 34 monogamous breeding pairs. There was a strong reproductive skew – 21 pairs bred only once producing 40% of the nestlings, whereas 13 pairs bred two to four times, producing 60% of the total nestlings. Five of these repeat‐breeders produced 28% of all nestlings, which was nearly triple the productivity of one‐time breeders. Repeat breeders usually monopolized access to their nest cavities, but the few pairs that switched nests did not differ in fecundity from those that stayed. The cause of nest switching was unknown, but uninterrupted access to a suitable nest (not minor variations in morphology between nests) better predicted fitness of breeding superb parrots. Pedigrees offer powerful insights into demographic processes, and identifying reproductive skew early provides opportunities to proactively avoid irreversible loss of genetic diversity via conservation management. We identify new research questions based on our results to clarify the relationship between access to resources and breeding success. [ABSTRACT FROM AUTHOR]

Published
2023
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18. A parallel adaptive finite element modeling of three-dimensional magnetotellurics incorporating topography

Author

Chen, C., Mateschke, K., Moorkamp, M., Yao, H., Hill, G., Avram, Y., Hogg, C., Kiyan, D., Schultz, A., Bowles-Martinez, E., Peacock, J., Karcioglu, G., Cimarelli, C., Carrichi, L., and Ogawa, Y.

Abstract

Magnetotellurics (MT) is widely used to image volcanic regions' three-dimensional (3-D) electrical conductivity structures. This requires a robust modeling solver which can deal with models with large conductivity contrast between melts and solid rock as well as topography. To this end, we developed a parallel 3-D MT forward modeling tool using the adaptive finite element method based on the open-source and scalar C++ library called the modular finite element method (MFEM). Tetrahedral grids were adopted to discretize the whole modeling domain, which can deal with complex underground structures with arbitrary topography. The flexible generalized minimum residual solver (FGMRES) with an auxiliary Maxwell solver pre-conditioner was applied to solve the final large-scale system of linear equations. We performed several experiments on synthetic models to verify the accuracy and efficiency of the developed tool. Then, we applied the tool to calculate the MT responses (impedance and tipper) at Mount St. Helens taking into account topography in the modeling to demonstrate the capability of the developed tool for dealing with complex models. The tool will be incorporated into the inversion tool JIF3D and substantially open-access., The 28th IUGG General Assembly (IUGG2023) (Berlin 2023)

Published
2023
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19. Probing the 4D evolution of active magmatic systems through magnetotelluric monitoring: Mount St Helens as an illustrative example

Author

Hill, G., Moorkamp, M., Avram, Y., Hogg, C., Gahr, S., Mateschke, K., Schultz, A., Bowles-Martinez, E., Peacock, J., Karcioglu, G., Chen, C., Cimarelli, C., Caricchi, L., Ogawa, Y., and Kiyan, D.

Abstract

Detection of geophysical signatures associated with a geologic event, such as a volcanic eruption, is key to understanding the underlying physical processes and making an accurate hazard assessment. Magma reservoirs are the main repositories for eruptible magma, and understanding them requires the ability to detect and interpret changes in the magmatic system from surface measurements. Traditionally, monitoring for these changes has been done with seismic and geodetic approaches, both of which require dynamic ‘active’ changes within the magmatic system. Neither of these techniques is sensitive to the petrology or temperature of the magma though. Thus, additional monitoring techniques able to detect ‘static’ phase changes in the evolving magma and the thermal structure of the magma reservoir are needed. The magnetotelluric method, measures subsurface electrical properties and is sensitive to both ‘magma on the move’ and petrological changes that occur within the magma reservoir. Using Mount St Helens where a detailed magnetotelluric survey was completed during the most recent dome building eruptive phase 2005-06, and is now in a period of quiescence, we compare the original measurements to repeated measurements in the same locations in 2022 to develop temporal analysis approaches required for monitoring. In addition to the repeat campaign we have deployed 4 long-term continuous monitoring stations with telemetry to local servers. First, qualitative, comparisons of the data from different time periods indicate some significant changes in subsurface conductivity. We present an overview of the newly acquired data and the monitoring setup and discuss where the most significant changes occur., The 28th IUGG General Assembly (IUGG2023) (Berlin 2023)

Published
2023
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27. Peripheral colour contrast sensitivity in patients with inherited retinal degenerations

Author

Arden, G. B., Wrobleski, J., Bhattacharya, S., Fitzke, F., Hogg, C. J., Eckstein, A., Hogg, C. H., Bird, A. C., Drum, B., editor, Adams, A. J., editor, Cavonius, C. R., editor, Dain, S. J., editor, Haegerstrom-Portnoy, G., editor, Kitahara, K., editor, Knoblauch, K., editor, Kurtenbach, A., editor, Lee, B. B., editor, Mollon, J., editor, Moreland, J. D., editor, Pokorny, J., editor, Sharpe, L. T., editor, Sperling, H. A., editor, Swanson, W. H., editor, and Zrenner, E., editor

Published
1995
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28. Generative Theory and Corpus Studies

Author

Ricardo Bermúdez-Otero, David Denison, Richard M. Hogg, C. B. McCully, Ricardo Bermúdez-Otero, David Denison, Richard M. Hogg, C. B. McCully

Published
2011

29. An international survey on nasal nitric oxide measurement practices for the diagnosis of primary ciliary dyskinesia

Author

Beydon, N, Ferkol, T, Harris, AL, Colas, M, Davis, SD, Haarman, E, Hogg, C, Kilbride, E, Kouis, P, Kuehni, CE, Latzin, P, Marangu, D, Marthin, J, Nielsen, KG, Robinson, P, Rumman, N, Rutter, M, Walker, W, Lucas, JS, Beydon, N, Ferkol, T, Harris, AL, Colas, M, Davis, SD, Haarman, E, Hogg, C, Kilbride, E, Kouis, P, Kuehni, CE, Latzin, P, Marangu, D, Marthin, J, Nielsen, KG, Robinson, P, Rumman, N, Rutter, M, Walker, W, and Lucas, JS

Abstract

Nasal nitric oxide (nNO) measurements are used in the assessment of patients suspected of having primary ciliary dyskinesia (PCD), but recommendations for performing such measurements have not focused on children and do not include all current practices. To guide the development of a European Respiratory Society-supported technical standard for nNO measurement in children, an international online survey was conducted to better understand current measurement practices among providers involved in PCD diagnostics. 78 professionals responded, representing 65 centres across 18 countries, mainly in Europe and North America. Nearly all centres measured nNO in children and more than half performed measurements before 5 years of age. The test was often postponed in children with signs of acute airway infection. In Europe, the electrochemical technique was more frequently used than chemiluminescence. A similar proportion of centres performed measurements during exhalation against a resistance (49 out of 65) or during tidal breathing (50 out of 65); 15 centres used only exhalation against a resistance and 15 used only tidal breathing. The cut-off values used to discriminate PCD were consistent across centres using chemiluminescence analysers; these centres reported results as an output (nL·min-1). Cut-off values were highly variable across centres using electrochemical devices, and nNO concentrations were typically reported as ppb. This survey is the first to determine real-world use of nNO measurements globally and revealed remarkable variability in methodology, equipment and interpretation. These findings will help standardise methods and training.

Published
2022

30. Characterization of Ciliary Function in Bronchiectasis (EMBARC-BRIDGE Study)

Author

Bottier, M., primary, Delgado, L., additional, Shuttleworth, M.K., additional, Cassidy, D.M., additional, Crichton, M.L., additional, Gallant, S., additional, Perrea, L., additional, Aliberti, S., additional, Altenburg, J., additional, Shteinberg, M., additional, Welte, T., additional, Blasi, F., additional, Goeminne, P.C., additional, Sibila, O., additional, Polverino, E., additional, Hogg, C., additional, Ollosson, S., additional, Loebinger, M.R., additional, Lorent, N., additional, Chalmers, J.D., additional, and Shoemark, A., additional

Published
2022
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31. S55 Persistent changes to the nasal ciliated epithelium following SARS-CoV2 infection: a longitudinal cohort analysis from FOLLOW-COVID

Author

Shoemark, A, primary, Bottier, M, additional, Pinto, A, additional, Delgado, L, additional, Abo-Leyah, H, additional, Rai, R, additional, Parcell, B, additional, Hocking, C, additional, Hogg, C, additional, Dicker, A, additional, Khan, F, additional, Gallant, S, additional, Cassidy, DM, additional, Connell, D, additional, and Chalmers, JD, additional

Published
2021
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34. International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives

Author

Marthin, JK, Lucas, JS, Boon, M, Casaulta, C, Crowley, S, Destouches, DMS, Eber, E, Escribano, A, Haarman, E, Hogg, C, Maitre, B, Marsh, G, Martinu, V, Moreno-Galdo, A, Mussaffi, H, Omran, H, Pohunek, P, Rindlisbacher, B, Robinson, P, Snijders, D, Walker, WT, Yiallouros, P, Johansen, HK, Nielsen, KG, Marthin, JK, Lucas, JS, Boon, M, Casaulta, C, Crowley, S, Destouches, DMS, Eber, E, Escribano, A, Haarman, E, Hogg, C, Maitre, B, Marsh, G, Martinu, V, Moreno-Galdo, A, Mussaffi, H, Omran, H, Pohunek, P, Rindlisbacher, B, Robinson, P, Snijders, D, Walker, WT, Yiallouros, P, Johansen, HK, and Nielsen, KG

Abstract

INTRODUCTION: In primary ciliary dyskinesia (PCD) impaired mucociliary clearance leads to recurrent airway infections and progressive lung destruction, and concern over chronic airway infection and patient-to-patient transmission is considerable. So far, there has been no defined consensus on how to control infection across centres caring for patients with PCD. Within the BEAT-PCD network, COST Action and ERS CRC together with the ERN-Lung PCD core a first initiative has now been taken towards creating such a consensus statement. METHODS: A multidisciplinary international PCD expert panel was set up to create a consensus statement for infection prevention and control (IP&C) for PCD, covering diagnostic microbiology, infection prevention for specific pathogens considered indicated for treatment and segregation aspects. Using a modified Delphi process, consensus to a statement demanded at least 80% agreement within the PCD expert panel group. Patient organisation representatives were involved throughout the process. RESULTS: We present a consensus statement on 20 IP&C statements for PCD including suggested actions for microbiological identification, indications for treatment of Pseudomonas aeruginosa, Burkholderia cepacia and nontuberculous mycobacteria and suggested segregation aspects aimed to minimise patient-to-patient transmission of infections whether in-hospital, in PCD clinics or wards, or out of hospital at meetings between people with PCD. The statement also includes segregation aspects adapted to the current coronavirus disease 2019 (COVID-19) pandemic. CONCLUSION: The first ever international consensus statement on IP&C intended specifically for PCD is presented and is targeted at clinicians managing paediatric and adult patients with PCD, microbiologists, patient organisations and not least the patients and their families.

Published
2021

43. Topological Data Analysis Coupled with Machine Learning Reveals New Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia

Author

Rubbo, B., primary, Shoemark, A., additional, Legendre, M., additional, Fassad, M., additional, Haarman, E., additional, Best, S., additional, Bon, I.C.M., additional, Brandsma, J., additional, Burgel, P.-R., additional, Carlsson, G., additional, Carr, S., additional, Carroll, M., additional, Edwards, M., additional, Escudier, E., additional, Honore, I., additional, Hunt, D., additional, Jouvion, G., additional, Loebinger, M.R., additional, Maitre, B.M., additional, Morris-Rosendahl, D., additional, Papon, J.-F., additional, Parsons, C., additional, Patel, M.P., additional, Thomas, S., additional, Thouvenin, G., additional, Walker, W.T., additional, Wilson, R., additional, Hogg, C., additional, Mitchison, H.M., additional, and Lucas, J.S., additional

Published
2020
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44. Prevalence of Reversible Airway Obstruction for Specific Ultrastructural Defects in Primary Ciliary Dyskinesia

Author

Mosquera, R.A., primary, Nielsen, K.G., additional, Gardner, L., additional, Holgersen, M.G., additional, Hogg, C., additional, Carr, S., additional, Richardson, C., additional, Olm, M.A., additional, Athanazio, R.A., additional, Rached, S., additional, Martinez Castillo, D.J., additional, Flores Oria, C.A., additional, Emanuel, H., additional, Stark, J.M., additional, Yadav, A., additional, De Jesus-Rojas, W., additional, Colasurdo, G., additional, Tellez, M., additional, Hashmi, S.S., additional, Velazquez, J., additional, Thouvenin, G., additional, Harris, T., additional, and Shoemark, A., additional

Published
2020
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