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51. Radiation Belt Storm Probes Ion Composition Experiment (RBSPICE)

Author

Mitchell, D. G., Lanzerotti, L. J., Kim, C. K., Stokes, M., Ho, G., Cooper, S., Ukhorskiy, A., Manweiler, J. W., Jaskulek, S., Haggerty, D. K., Brandt, P., Sitnov, M., Keika, K., Hayes, J. R., Brown, L. E., Gurnee, R. S., Hutcheson, J. C., Nelson, K. S., Paschalidis, N., Rossano, E., Kerem, S., Fox, Nicola, editor, and Burch, James L., editor

Published
2014
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54. P380 Changes in faecal microbiome and metabolome are more pronounced in Crohn’s disease patients who adhered to the CD-TREAT diet and responded by calprotectin

Author

Svolos, V, primary, Hansen, R, additional, Russell, R K, additional, Gaya, D R, additional, Seenan, J P, additional, Macdonald, J, additional, Wilson, D, additional, Henderson, P, additional, Din, S, additional, Ho, G T, additional, Quince, C, additional, Ijaz, U Z, additional, Milling, S, additional, Nichols, B, additional, Papadopoulou, R, additional, McKirdy, S, additional, Gervais, L, additional, Shields, S, additional, and Gerasimidis, K, additional

Published
2023
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55. The 18–19 March 2022 series of 3He-rich events observed by Solar Orbiter at 0.36 au compared with EUV, X-ray, and radio observations

Author

Mason, G. M., primary, Nitta, N. V., additional, Bučík, R., additional, Gómez-Herrero, R., additional, Krupar, V., additional, Krucker, S., additional, Ho, G. C., additional, Allen, R. C., additional, Kouloumvakos, A., additional, Wimmer-Schweingruber, R. F., additional, Rodriguez-Pacheco, J., additional, Vecchio, A., additional, and Maksimovic, M., additional

Published
2023
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56. The first gradual solar energetic particle event with an enhanced 3He abundance on Solar Orbiter

Author

Bučík, R., primary, Mason, G. M., additional, Gómez-Herrero, R., additional, Krupar, V., additional, Lario, D., additional, Starkey, M. J., additional, Ho, G. C., additional, Rodríguez-Pacheco, J., additional, Wimmer-Schweingruber, R. F., additional, Espinosa Lara, F., additional, Tadesse, T., additional, Balmaceda, L., additional, Cohen, C. M. S., additional, Dayeh, M. A., additional, Desai, M. I., additional, Kühl, P., additional, Nitta, N. V., additional, Wiedenbeck, M. E., additional, and Xu, Z. G., additional

Published
2022
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58. April 3, 2022 in-situ ESP Event as Observed by Solar Orbiter, ACE and Stereo

Author

Ho, G., Mason, G., Robert, A., Robert, W., Rodríguez-Pacheco, J., and Gómez-Herrero, R.

Abstract

The propagation and radial evolution of energetic particle events can only be studied by multiple-point simultaneous in-situ measurement within the heliosphere.The joint ESA/NASA Solar Orbiter mission that was launched in February 2020, is designed to study the Sun and inner heliosphere in greater detail than ever before.The Energetic Particle Detector (EPD) investigation on Solar Orbiter is a suite of four different sensors that measure the energetic particles from slightly above solar wind energies to hundreds of MeV/nucleon. Since launched, EPD already observed numerous large solar energetic particle (SEP) and energetic storm particle (ESP) events inside of 1 au in greater temporal and spectral resolutions than ever before.Many of these events were also measured by spacecraft at 1 au such as ACE and/or STEREO.On April 2, 2022, an active region (AR 12975) on the western limb (W80) of the Sun produced a large SEP event and associated fast moving (>1400 km/s) coronal mass ejection (CME) and a CME-driven interplanetary shock.During that time, the Solar Orbiter spacecraft was cruising near its perihelion distance (~0.35 au) at W109 relative to the Earth-Sun line, and the STEREO Ahead spacecraft was at E35.Together, the particle instruments on these probes measured the SEP/ESP and the plasma and field instruments detected the associated interplanetary shock/CMEs on April 2-3, 2022.In this paper, we report the multi-spacecraft observations of this event that were measured by Solar Orbiter, and we discuss the propagation and transport of SEPs from 0.3 to 1 au., The 28th IUGG General Assembly (IUGG2023) (Berlin 2023)

Published
2023
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59. Highlights from solar orbiter’s energetic particle detector

Author

Wimmer-Schweingruber, R., Rodríguez-Pacheco, J., and Ho, G.

Abstract

Solar Orbiter is a space mission of international collaboration between ESA and NASA that was launched in February 2020 to answer the question how the Sun creates and controls the heliosphere. For that purpose, the spacecraft orbits the sun with perihelia within 0.3 au and carries with it a comprehensive payload of ten scientific instruments. Among them, the Energetic Particle Detector (EPD) is aimed to answer the question of how the Sun produces energetic particle radiation that can fill the entire heliosphere. EPD is a suite of multiple sensors (STEP, SIS, EPT, HET), which measure particle intensities over a wide range of energies (from suprathermal up to relativistic energies) and for different species (e-, protons, and heavy ions) in different directions. In December 2021 Solar Orbiter began its nominal science phase with an orbit that carried the spacecraft to a close encounter with the Sun (0.32 au) in March 26th 2022. In this talk we will highlight EPD results obtained during this orbit and particularly at distances below 0.4 au from the Sun., The 28th IUGG General Assembly (IUGG2023) (Berlin 2023)

Published
2023
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60. The first gradual solar energetic particle event with an enhanced ³He abundance on Solar Orbiter

Author

Bucik, R., Mason, G. M., Gómez-Herrero, R., Krupar, V., Lario, D., Starkey, M. J., Ho, G. C., Rodríguez-Pacheco, J., Wimmer-Schweingruber, R. F., Espinosa Lara, F., Tadesse, T., Balmaceda, L., Cohen, C. M. S., Dayeh, M. A., Desai, M. I., Kühl, P., Nitta, N. V., Wiedenbeck, M. E., and Xu, Z. G.

Abstract

The origin of ³He bundance enhancements in gradual solar energetic particle (SEP) events remains largely unexplained. Two mechanisms have been suggested: the reacceleration of remnant flare material by coronal mass ejection (CME)-driven shocks in interplanetary space, and concomitant activity in the corona. We explore the first gradual SEP event with enhanced 3He abundance that was observed by Solar Orbiter. The event started on 2020 November 24 and was associated with a relatively fast halo CME. During the event, the spacecraft was at 0.9 au from the Sun. The event-averaged ³He/⁴He abundance ratio is 24 times higher than the coronal or solar wind value, and the timing of the ³He intensity was similar to that of other species. We inspected available imaging, radio observations, and the spacecraft magnetic connection to the CME source. The most probable cause of the enhanced ³He ions remaining from a preceding long period of 3He-rich SEPs on 2020 November 17–23.

Published
2023

61. Integrating Internet of Things and multi-temperature delivery planning for perishable food E-commerce logistics: a model and application.

Author

Tsang, Y. P., Wu, C. H., Lam, H. Y., Choy, K. L., and Ho, G. T. S.

Subjects
INTERNET of things, PERISHABLE foods, THIRD-party logistics, ELECTRONIC commerce, MEMBERSHIP functions (Fuzzy logic), FOOD quality
Abstract

With the rapid growth of perishable food e-commerce businesses, there is a definite need for logistics services providers to manage parcel shipments with multi-temperature requirements. E-commerce characteristics, including time-critical delivery, fragmented orders, and high product variety, should be further considered to extend the ontology of multi-temperature joint distribution. However, traditional delivery route planning is insufficient because it merely minimises the cost of travelling between customer locations. Factors related to food quality and arrival time windows should also be considered. In addition, handling dynamic incident management, such as violations of handling requirements during delivery, is lacking. This leads to the likelihood of food deteriorating before it reaches the consumers, thereby impacting customer satisfaction. This paper proposes an Internet of Things–based multi-temperature delivery planning system (IoT-MTDPS), embedding a two-phase multi-objective genetic algorithm optimiser (2PMGAO). The formulation of delivery routing mainly considers product-dependent multi-temperature characteristics, service level, transportation cost, and number of trucks. Once there are unexpected incidents which are detected by Internet of Things technologies, 2PMGAO can optimise the membership functions of fuzzy logic for re-routing the e-commerce delivery plan. With using IoT-MTDPS, the capability of handling e-commerce orders is enhanced, while customer satisfaction can be maintained at a designated level. [ABSTRACT FROM AUTHOR]

Published
2021
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63. The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation

Author

Archibald, AD, McClaren, BJ, Caruana, J, Tutty, E, King, EA, Halliday, JL, Best, S, Kanga-Parabia, A, Bennetts, BH, Cliffe, CC, Madelli, EO, Ho, G, Liebelt, J, Long, JC, Braithwaite, J, Kennedy, J, Massie, J, Emery, JD, McGaughran, J, Marum, JE, Boggs, K, Barlow-Stewart, K, Burnett, L, Dive, L, Freeman, L, Davis, MR, Downes, MJ, Wallis, M, Ferrie, MM, Pachter, N, Scuffham, PA, Casella, R, Allcock, RJN, Ong, R, Edwards, S, Righetti, S, Lunke, S, Lewis, S, Walker, SP, Boughtwood, TF, Hardy, T, Newson, AJ, Kirk, EP, Laing, NG, and Delatycki, MB

Abstract

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.

Published
2022

66. Diagnostic accuracy of non-invasive tests for advanced fibrosis in patients with NAFLD : an individual patient data meta-analysis

Author

Mozes, F. E., Lee, J. A., Selvaraj, E. A., Jayaswal, A. N. A., Trauner, M., Boursier, J., Fournier, C., Staufer, K., Stauber, R. E., Bugianesi, E., Younes, R., Gaia, S., Lupsor-Platon, M., Petta, S., Shima, T., Okanoue, T., Mahadeva, S., Chan, W. -K., Eddowes, P. J., Newsome, P. N., Wong, V. W. -S., de Ledinghen, V., Fan, J., Shen, F., Cobbold, J. F., Sumida, Y., Okajima, A., Schattenberg, J. M., Labenz, C., Kim, W., Lee, M. S., Wiegand, J., Karlas, T., Yilmaz, Y., Aithal, G. P., Palaniyappan, N., Cassinotto, C., Aggarwal, S., Garg, H., Ooi, G. J., Nakajima, A., Yoneda, M., Ziol, M., Barget, N., Geier, A., Tuthill, T., Brosnan, M. J., Anstee, Q. M., Neubauer, S., Harrison, S. A., Bossuyt, P. M., Pavlides, M., Anstee, Q., Daly, A., Johnson, K., Govaere, O., Cockell, S., Tiniakos, D., Bedossa, P., Oakley, F., Cordell, H., Day, C., Wonders, K., Bossuyt, P., Zafarmand, H., Vali, Y., Lee, J., Ratziu, V., Clement, K., Pais, R., Schuppan, D., Schattenberg, J., Vidal-Puig, T., Vacca, M., Rodrigues-Cuenca, S., Allison, M., Kamzolas, I., Petsalaki, E., Oresic, M., Hyotylainen, T., Mcglinchey, A., Mato, J. M., Millet, O., Dufour, J. -F., Berzigotti, A., Harrison, S., Cobbold, J., Mozes, F., Akhtar, S., Banerjee, R., Kelly, M., Shumbayawonda, E., Dennis, A., Erpicum, C., Graham, M., Romero-Gomez, M., Gomez-Gonzalez, E., Ampuero, J., Castell, J., Gallego-Duran, R., Fernandez, I., Montero-Vallejo, R., Karsdal, M., Erhardtsen, E., Rasmussen, D., Leeming, D. J., Fisker, M. J., Sinisi, A., Musa, K., Betsou, F., Sandt, E., Tonini, M., Rosso, C., Armandi, A., Marra, F., Gastaldelli, A., Svegliati, G., Francque, S., Vonghia, L., Ekstedt, M., Kechagias, S., Yki-Jarvinen, H., Porthan, K., van Mil, S., Papatheodoridis, G., Cortez-Pinto, H., Valenti, L., Miele, L., Trautwein, C., Aithal, G., Hockings, P., Newsome, P., Wenn, D., Rodrigues, C. M. P., Chaumat, P., Hanf, R., Trylesinski, A., Ortiz, P., Duffin, K., Brosnan, J., Mcleod, E., Ertle, J., Ostroff, R., Alexander, L., Kjaer, M. S., Mikkelsen, L. F., Balp, M. -M., Brass, C., Jennings, L., Martic, M., Loeffler, J., Hanauer, G., Shankar, S., Pepin, K., Ehman, R., Myers, J., Ho, G., Torstenson, R., Myers, R., Doward, L., LITMUS Investigators, University of Denver, Medizinische Universität Wien = Medical University of Vienna, Hémodynamique, Interaction Fibrose et Invasivité tumorales Hépatiques (HIFIH), Université d'Angers (UA), SUACI Alpes du Nord, Medical University Graz, Mozes, Ferenc Emil, Lee, Jenny A., Selvaraj, Emmanuel Anandraj, Jayaswal, Arjun Narayan Ajmer, Trauner, Michael, Boursier, Jerome, Fournier, Celine, Staufer, Katharina, Stauber, Rudolf E., Bugianesi, Elisabetta, Younes, Ramy, Gaia, Silvia, Lupsor-Platon, Monica, Petta, Salvatore, Shima, Toshihide, Okanoue, Takeshi, Mahadeva, Sanjiv, Chan, Wah-Kheong, Eddowes, Peter J., Hirschfield, Gideon M., Newsome, Philip Noel, Wong, Vincent Wai-Sun, de Ledinghen, Victor, Fan, Jiangao, Shen, Feng, Cobbold, Jeremy F., Sumida, Yoshio, Okajima, Akira, Schattenberg, Joern M., Labenz, Christian, Kim, Won, Lee, Myoung Seok, Wiegand, Johannes, Karlas, Thomas, Yilmaz, Yusuf, Aithal, Guruprasad Padur, Palaniyappan, Naaventhan, Cassinotto, Christophe, Aggarwal, Sandeep, Garg, Harshit, Ooi, Geraldine J., Nakajima, Atsushi, Yoneda, Masato, Ziol, Marianne, Barget, Nathalie, Geier, Andreas, Tuthill, Theresa, Brosnan, M. Julia, Anstee, Quentin Mark, Neubauer, Stefan, Harrison, Stephen A., Bossuyt, Patrick M., Pavlides, Michael, Epidemiology and Data Science, APH - Methodology, APH - Personalized Medicine, ACS - Atherosclerosis & ischemic syndromes, APH - Aging & Later Life, ARD - Amsterdam Reproduction and Development, Graduate School, Mozes F.E., Lee J.A., Selvaraj E.A., Jayaswal A.N.A., Trauner M., Boursier J., Fournier C., Staufer K., Stauber R.E., Bugianesi E., Younes R., Gaia S., Lupsor-Platon M., Petta S., Shima T., Okanoue T., Mahadeva S., Chan W.-K., Eddowes P.J., Newsome P.N., Wong V.W.-S., de Ledinghen V., Fan J., Shen F., Cobbold J.F., Sumida Y., Okajima A., Schattenberg J.M., Labenz C., Kim W., Lee M.S., Wiegand J., Karlas T., Yilmaz Y., Aithal G.P., Palaniyappan N., Cassinotto C., Aggarwal S., Garg H., Ooi G.J., Nakajima A., Yoneda M., Ziol M., Barget N., Geier A., Tuthill T., Brosnan M.J., Anstee Q.M., Neubauer S., Harrison S.A., Bossuyt P.M., Pavlides M., Anstee Q., Daly A., Johnson K., Govaere O., Cockell S., Tiniakos D., Bedossa P., Oakley F., Cordell H., Day C., Wonders K., Bossuyt P., Zafarmand H., Vali Y., Lee J., Ratziu V., Clement K., Pais R., Schuppan D., Schattenberg J., Vidal-Puig T., Vacca M., Rodrigues-Cuenca S., Allison M., Kamzolas I., Petsalaki E., Oresic M., Hyotylainen T., McGlinchey A., Mato J.M., Millet O., Dufour J.-F., Berzigotti A., Harrison S., Cobbold J., Mozes F., Akhtar S., Banerjee R., Kelly M., Shumbayawonda E., Dennis A., Erpicum C., Graham M., Romero-Gomez M., Gomez-Gonzalez E., Ampuero J., Castell J., Gallego-Duran R., Fernandez I., Montero-Vallejo R., Karsdal M., Erhardtsen E., Rasmussen D., Leeming D.J., Fisker M.J., Sinisi A., Musa K., Betsou F., Sandt E., Tonini M., Rosso C., Armandi A., Marra F., Gastaldelli A., Svegliati G., Francque S., Vonghia L., Ekstedt M., Kechagias S., Yki-Jarvinen H., Porthan K., van Mil S., Papatheodoridis G., Cortez-Pinto H., Valenti L., Miele L., Trautwein C., Aithal G., Hockings P., Newsome P., Wenn D., Rodrigues C.M.P., Chaumat P., Hanf R., Trylesinski A., Ortiz P., Duffin K., Brosnan J., McLeod E., Ertle J., Ostroff R., Alexander L., Kjaer M.S., Mikkelsen L.F., Balp M.-M., Brass C., Jennings L., Martic M., Loeffler J., Hanauer G., Shankar S., Pepin K., Ehman R., Myers J., Ho G., Torstenson R., Myers R., and Doward L.

Subjects
Liver Cirrhosis, Male, Cirrhosis, LIVER STIFFNESS MEASUREMENT, Biopsy, [SDV]Life Sciences [q-bio], biostatistics, Gastroenterology, DISEASE, clinical decision making, fatty liver, hepatic fibrosis, 0302 clinical medicine, Non-alcoholic Fatty Liver Disease, Fibrosis, 2. Zero hunger, 0303 health sciences, medicine.diagnostic_test, NONALCOHOLIC STEATOHEPATITIS, TRANSIENT ELASTOGRAPHY, Fatty liver, CHRONIC HEPATITIS, Middle Aged, 3. Good health, Settore AGR/03 - Arboricoltura Generale E Coltivazioni Arboree, Liver, Liver biopsy, BIOPSY, Elasticity Imaging Techniques, Female, 030211 gastroenterology & hepatology, Median body, medicine.medical_specialty, CONTROLLED ATTENUATION PARAMETER, 610 Medicine & health, 03 medical and health sciences, Internal medicine, SCORE, medicine, Humans, biostatistics, clinical decision making, fatty liver, hepatic fibrosis, 030304 developmental biology, Receiver operating characteristic, business.industry, medicine.disease, Diabetes Mellitus, Type 2, XL PROBE, business, Hepatic fibrosis, Transient elastography, Biomarkers, PROSPECTIVE DERIVATION
Abstract

ObjectiveLiver biopsy is still needed for fibrosis staging in many patients with non-alcoholic fatty liver disease. The aims of this study were to evaluate the individual diagnostic performance of liver stiffness measurement by vibration controlled transient elastography (LSM-VCTE), Fibrosis-4 Index (FIB-4) and NAFLD (non-alcoholic fatty liver disease) Fibrosis Score (NFS) and to derive diagnostic strategies that could reduce the need for liver biopsies.DesignIndividual patient data meta-analysis of studies evaluating LSM-VCTE against liver histology was conducted. FIB-4 and NFS were computed where possible. Sensitivity, specificity and area under the receiver operating curve (AUROC) were calculated. Biomarkers were assessed individually and in sequential combinations.ResultsData were included from 37 primary studies (n=5735; 45% women; median age: 54 years; median body mass index: 30 kg/m2; 33% had type 2 diabetes; 30% had advanced fibrosis). AUROCs of individual LSM-VCTE, FIB-4 and NFS for advanced fibrosis were 0.85, 0.76 and 0.73. Sequential combination of FIB-4 cut-offs (ConclusionSequential combinations of markers with a lower cut-off to rule-out advanced fibrosis and a higher cut-off to rule-in cirrhosis can reduce the need for liver biopsies.

Published
2022

68. List of Contributors

Author

Bai, S.H., primary, Balasubramanian, S., additional, Balasubramanian, R., additional, Bassi, A., additional, Benerji, S.K., additional, Boopathy, R., additional, Charles, W., additional, Cheng, K.Y., additional, Daoud, W., additional, Farrar, M., additional, Garg, V.K., additional, Gu, X.Y., additional, Gupta, R., additional, Ho, G., additional, Hu, Y., additional, Joseph, S., additional, Kaksonen, A.H., additional, Karthikeyan, O.P., additional, Kumar, S., additional, Kwan, T.H., additional, Lennartsson, P.R., additional, Lin, C.S.K., additional, Luo, L., additional, Murugesan, K., additional, Nair, R.B., additional, Nguyen, T.T Nhan, additional, Pandey, A., additional, Patel, A.K., additional, Rivero, C.P., additional, Selvam, A., additional, Sil, A., additional, Singhania, R.R., additional, Solaiman, Z.M., additional, Surampalli, R.Y., additional, Taherzadeh, M.J., additional, Theodoropoulos, C., additional, Tyagi, R.D., additional, Valix, M., additional, Wallace, H.M., additional, Wang, X., additional, Webb, C., additional, Wong, J.W.C., additional, Xu, S., additional, Xu, C-Y., additional, and Zhang, T.C., additional

Published
2017
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71. The Energetic Particle Detector (EPD) Investigation and the Energetic Ion Spectrometer (EIS) for the Magnetospheric Multiscale (MMS) Mission

Author

Mauk, B. H., primary, Blake, J. B., additional, Baker, D. N., additional, Clemmons, J. H., additional, Reeves, G. D., additional, Spence, H. E., additional, Jaskulek, S. E., additional, Schlemm, C. E., additional, Brown, L. E., additional, Cooper, S. A., additional, Craft, J. V., additional, Fennell, J. F., additional, Gurnee, R. S., additional, Hammock, C. M., additional, Hayes, J. R., additional, Hill, P. A., additional, Ho, G. C., additional, Hutcheson, J. C., additional, Jacques, A. D., additional, Kerem, S., additional, Mitchell, D. G., additional, Nelson, K. S., additional, Paschalidis, N. P., additional, Rossano, E., additional, Stokes, M. R., additional, and Westlake, J. H., additional

Published
2016
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72. Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

Author

Beaman, G.M., Lopes, F.M., Hofmann, A., Roesch, W., Promm, M., Bijlsma, E.K., Patel, C., Akinci, A., Burgu, B., Knijnenburg, J., Ho, G., Aufschlaeger, C., Dathe, S., Voelckel, M.A., Cohen, M., Yue, W.W., Stuart, H.M., Mckenzie, E.A., Elvin, M., Roberts, N.A., Woolf, A.S., and Newman, W.G.

Subjects
missense, urofacial, HPSE2, LRIG2, Genetics, rare disease, Molecular Medicine, heparanase-2, Ochoa syndrome, triplication, Genetics (clinical)
Abstract

Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in HPSE2, coding for the secreted protein heparanase-2, are described in around half of families genetically studied. Hpse2 mutant mice have aberrant bladder nerves. We sought to expand the genotypic spectrum of UFS and make insights into its pathobiology. Sanger sequencing, next generation sequencing and microarray analysis were performed in four previously unreported families with urinary tract disease and grimacing. In one, the proband had kidney failure and was homozygous for the previously described pathogenic variant c.429T>A, p.(Tyr143*). Three other families each carried a different novel HPSE2 variant. One had homozygous triplication of exons 8 and 9; another had homozygous deletion of exon 4; and another carried a novel c.419C>G variant encoding the missense p.Pro140Arg in trans with c.1099-1G>A, a previously reported pathogenic splice variant. Expressing the missense heparanase-2 variant in vitro showed that it was secreted as normal, suggesting that 140Arg has aberrant functionality after secretion. Bladder autonomic neurons emanate from pelvic ganglia where resident neural cell bodies derive from migrating neural crest cells. We demonstrated that, in normal human embryos, neuronal precursors near the developing hindgut and lower urinary tract were positive for both heparanase-2 and leucine rich repeats and immunoglobulin like domains 2 (LRIG2). Indeed, biallelic variants of LRIG2 have been implicated in rare UFS families. The study expands the genotypic spectrum in HPSE2 in UFS and supports a developmental neuronal pathobiology.

Published
2022
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74. The Energetic Particle Detector (EPD) Investigation and the Energetic Ion Spectrometer (EIS) for the Magnetospheric Multiscale (MMS) Mission

Author

Mauk, B. H., Blake, J. B., Baker, D. N., Clemmons, J. H., Reeves, G. D., Spence, H. E., Jaskulek, S. E., Schlemm, C. E., Brown, L. E., Cooper, S. A., Craft, J. V., Fennell, J. F., Gurnee, R. S., Hammock, C. M., Hayes, J. R., Hill, P. A., Ho, G. C., Hutcheson, J. C., Jacques, A. D., Kerem, S., Mitchell, D. G., Nelson, K. S., Paschalidis, N. P., Rossano, E., Stokes, M. R., and Westlake, J. H.

Published
2016
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80. Treatment Outcome Trends for Non-Ruptured Abdominal Aortic Aneurysms: A Nationwide Prospective Cohort Study

Author

Alberga, Anna J., Karthaus, Eleonora G., Wilschut, Janneke A., de Bruin, Jorg L., Akkersdijk, George P., Geelkerken, Robert H., Hamming, Jaap F., Wever, Jan J., Verhagen, Hence J. M., van den Akker, P. J., Akkersdijk, G. P., Akkersdijk, W. L., van Andringa de Kempenaer, M. G., Arts, C. H. P., Avontuur, A. M., Bakker, O. J., Balm, R., Barendregt, W. B., Bekken, J. A., Bender, M. H. M., Bendermacher, B. L. W., van den Berg, M., Beuk, R. J., Blankensteijn, J. D., Bode, A. S., Bodegom, M. E., van der Bogt, K. E. A., Boll, A. P. M., Booster, M. H., Borger van der Burg, B. L. S., de Borst, G. J., Bos-van Rossum, W. T. G. J., Bosma, J., Botman, J. M. J., Bouwman, L. H., Brehm, V., de Bruijn, M. T., de Bruin, J. L., Brummel, P., van Brussel, J. P., Buijk, S. E., Buimer, M. G., Buscher, H. C. J. L., Cancrinus, E., Castenmiller, P. H., Cazander, G., Cuypers, P. H. W. M., Daemen, J. H. C., Dawson, I., Dierikx, J. E., Dijkstra, M. L., Diks, J., Dinkelman, M. K., Dirven, M., Dolmans, D. E. J. G. J., van Dortmont, L. M. C., Drouven, J. W., van der Eb, M. M., Eefting, D., van Eijck, G. J. W. M., Elshof, J. W. M., Elsman, B. H. P., van der Elst, A., van Engeland, M. I. A., van Eps, G. S., Faber, M. J., de Fijter, W. M., Fioole, B., Fritschy, W. M., Jin, P. H. P. F. K., Geelkerken, R. H., van Gent, W. B., Glade, G. J., Govaert, B., Groenendijk, R. P. R., de Groot, H. G. W., van den Haak, R. F. F., de Haan, E. F. A., Hajer, G. F., Hamming, J. F., van Hattum, E. S., Hazenberg, C. E. V. B., Hedeman Joosten, P. P. H. A., Helleman, J. N., van der Hem, L. G., Hendriks, J. M., van Herwaarden, J. A., Heyligers, J. M. M., Hinnen, J. W., Hissink, R. J., Ho, G. H., den Hoed, P. T., Hoedt, M. T. C., van Hoek, F., Hoencamp, R., Hoffmann, W. H., Hoksbergen, A. W. J., Hollander, E. J. F., Huisman, L. C., Hulsebos, R. G., Huntjens, K. M. B., Idu, M. M., Jacobs, M. J. H. M., van der Jagt, M. F. P., Jansbeken, J. R. H., Janssen, R. J. L., Jiang, H. H. L., de Jong, S. C., Jongbloed-Winkel, T. A., Jongkind, V., Kapma, M. R., Keller, B. P. J. A., Jahrome, A. K., Kievit, J. K., Klemm, P. L., Klinkert, P., Koedam, N. A., Koelemaij, M. J. W., Kolkert, J. L. P., Koning, G. G., Koning, O. H. J., Konings, R., Krasznai, A. G., Kropman, R. H. J., Kruse, R. R., van der Laan, L., van der Laan, M. J., van Laanen, J. H. H., van Lammeren, G. W., Lamprou, D. A. A., Lardenoije, J. H. P., Lauret, G. J., Leenders, B. J. M., Legemate, D. A., Leijdekkers, V. J., Lemson, M. S., Lensvelt, M. M. A., Lijkwan, M. A., van der Linden, F. T. H. P. M., Lung, P. F. Liqui, Loos, M. J. A., Loubert, M. C., van de Luijtgaarden, K. M., Mahmoud, D. E. A. K., Manshanden, C. G., Mattens, E. C. J. L., Meerwaldt, R., Mees, B. M. E., Menting, T. P., Metz, R., de Mol van Otterloo, J. C. A., Molegraaf, M. J., Montauban van Swijndregt, Y. C. A., Morak, M. J. M., van de Mortel, R. H. W., Mulder, W., Nagesser, S. K., Naves, C. C. L. M., Nederhoed, J. H., Nevenzel, A. M., de Nie, A. J., Nieuwenhuis, D. H., van Nieuwenhuizen, R. C., Nieuwenhuizen, J., Nio, D., Oomen, A. P. A., Oranen, B. I., Oskam, J., Palamba, H. W., Peppelenbosch, A. G., van Petersen, A. S., Petri, B. J., Pierie, M. E. N., Ploeg, A. J., Pol, R. A., Ponfoort, E. D., Poyck, P. P. C., Prent, A., Raa, S. ten, Raymakers, J. T. F. J., Reichmann, B. L., Reijnen, M. M. P. J., de Ridder, J. A. M., Rijbroek, A., van Rijn, M. J. E., de Roo, R. A., Rouwet, E. V., Saleem, B. R., van Sambeek, M. R. H. M., Samyn, M. G., van ’t Sant, H. P., van Schaik, J., van Schaik, P. M., Scharn, D. M., Scheltinga, M. R. M., Schepers, A., Schlejen, P. M., Schlösser, F. J. V., Schol, F. P. G., Scholtes, V. P. W., Schouten, O., Schreve, M. A., Schurink, G. W. H., Sikkink, C. J. J. M., Slaa, A. te, Smeets, H. J., Smeets, L., Smeets, R. R., de Smet, A. A. E. A., Smit, P. C., Smits, T. M., Snoeijs, M. G. J., Sondakh, A. O., Speijers, M. J., van der Steenhoven, T. J., van Sterkenburg, S. M. M., Stigter, D. A. A., Stokmans, R. A., Strating, R. P., Stultiëns, G. N. M., Sybrandy, J. E. M., Teijink, J. A. W., Telgenkamp, B. J., Testroote, M. J. G., Tha-in, T., The, R. M., Thijsse, W. J., Thomassen, I., Tielliu, I. F. J., van Tongeren, R. B. M., Toorop, R. J., Tournoij, E., Truijers, M., Türkcan, K., Tutein Nolthenius, R. P., Ünlü, C., Vaes, R. H. D., Vahl, A. C., Veen, E. J., Veger, H. T. C., Veldman, M. G., Verhagen, H. J. M., Verhoeven, B. A. N., Vermeulen, C. F. W., Vermeulen, E. G. J., Vierhout, B. P., van der Vijver-Coppen, R. J., Visser, M. J. T., van der Vliet, J. A., van Vlijmen - van Keulen, C. J., van der Vorst, J. R., Vos, A. W. F., Vos, C. G., Vos, G. A., de Vos, B., Voûte, M. T., Vriens, B. H. R., Vriens, P. W. H. E., de Vries, D. K., de Vries, J. P. P. M., de Vries, M., de Vries, A. C., van der Waal, C., Waasdorp, E. J., Wallis de Vries, B. M., van Walraven, L. A., van Wanroi, J. L., Warlé, M. C., van Weel, V., van Well, A. M. E., Welten, G. M. J. M., Wever, J. J., Wiersema, A. M., Wikkeling, O. R. M., Willaert, W. I. M., Wille, J., Willems, M. C. M., Willigendael, E. M., Wilschut, E. D., Wisselink, W., Witte, M. E., Wittens, C. H. A., Wong, C. Y., Yazar, O., Yeung, K. K., Zeebregts, C. J. A. M., van Zeeland, M. L. P., ACS - Microcirculation, Anesthesiology, Physiology, ACS - Pulmonary hypertension & thrombosis, Surgery, ACS - Atherosclerosis & ischemic syndromes, VU University medical center, ACS - Diabetes & metabolism, TechMed Centre, Multi-Modality Medical Imaging, Medical Biochemistry, and AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

Subjects
Male, Time Factors, Operative procedure, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Risk Assessment, Blood Vessel Prosthesis Implantation, Postoperative Complications, Risk Factors, Humans, Hospital Mortality, Prospective Studies, Registries, Treatment outcome, Aged, Netherlands, Retrospective Studies, Aged, 80 and over, Endovascular Procedures, Quality of care, Middle Aged, Endovascular procedure, Abdominal aortic aneurysm, Surgery, Female, Trends, Cardiology and Cardiovascular Medicine, Aortic Aneurysm, Abdominal
Abstract

Contains fulltext : 251573.pdf (Publisher’s version ) (Open Access) OBJECTIVE: The Dutch Surgical Aneurysm Audit (DSAA) initiative was established in 2013 to monitor and improve nationwide outcomes of aortic aneurysm surgery. The objective of this study was to examine whether outcomes of surgery for intact abdominal aortic aneurysms (iAAA) have improved over time. METHODS: Patients who underwent primary repair of an iAAA by standard endovascular (EVAR) or open surgical repair (OSR) between 2014 and 2019 were selected from the DSAA for inclusion. The primary outcome was peri-operative mortality trend per year, stratified by OSR and EVAR. Secondary outcomes were trends per year in major complications, textbook outcome (TbO), and characteristics of treated patients. The trends per year were evaluated and reported in odds ratios per year. RESULTS: In this study, 11 624 patients (74.8%) underwent EVAR and 3 908 patients (25.2%) underwent OSR. For EVAR, after adjustment for confounding factors, there was no improvement in peri-operative mortality (aOR [adjusted odds ratio] 1.06, 95% CI 0.94 - 1.20), while major complications decreased (2014: 10.1%, 2019: 7.0%; aOR 0.91, 95% CI 0.88 - 0.95) and the TbO rate increased (2014: 68.1%, 2019: 80.9%; aOR 1.13, 95% CI 1.10 - 1.16). For OSR, the peri-operative mortality decreased (2014: 6.1%, 2019: 4.6%; aOR 0.89, 95% CI 0.82 - 0.98), as well as major complications (2014: 28.6%, 2019: 23.3%; aOR 0.95, 95% CI 0.91 - 0.99). Furthermore, the proportion of TbO increased (2014: 49.1%, 2019: 58.3%; aOR 1.05, 95% CI 1.01 - 1.10). In both the EVAR and OSR group, the proportion of patients with cardiac comorbidity increased. CONCLUSION: Since the establishment of this nationwide quality improvement initiative (DSAA), all outcomes of iAAA repair following EVAR and OSR have improved, except for peri-operative mortality following EVAR which remained unchanged.

Published
2022

82. A three-chamber electrochemical cell facilitated biogas upgrading and high-purity oxygen production

Author

Mohammadpour, H., Pivrikas, A., Cheng, K.Y., Ho, G., Mohammadpour, H., Pivrikas, A., Cheng, K.Y., and Ho, G.

Abstract

Anion exchange membrane (AEM)-equipped electrochemical cells can be used for removing the carbon dioxide (CO2) from biogas, thereby upgrading its energy content. The CO2 absorbed in the catholyte can be transported across the AEM as (bi)carbonate and then recovered in the anodic chamber of the electrochemical cell. However, CO2 regeneration in the anode chamber diminishes the oxygen (O2) content in the anodic gas stream. Given this electrochemically produced oxygen can have a high-industrial application value, such as for promoting more efficient biological wastewater treatment processes, we hereby proposed and validated a three-chamber electrochemical cell configuration capable of removing CO2 and recovering it in an intermediate chamber, with a concomitant anodic generation of high-purity O2 gas. Our prototype successfully facilitated CO2 recovery in a separate chamber preventing CO2 contamination of the anodic O2 gas stream. Results also suggested that an approximately tenfold increase in CO2 loading rate enhanced the relative CO2 diffusion flux from 5 to 43% through the AEM, by lowering the catholyte pH as well as improving gas–liquid CO2 transfer. A mathematical model was also developed to accurately predict the polarization performance of the electrochemical cell.

Published
2022

83. Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

Author

Kelada, L, Wakefield, C, Vidic, N, Armstrong, DS, Bennetts, B, Boggs, K, Christodoulou, J, Harrison, J, Ho, G, Kapur, N, Lindsey-Temple, S, McDonald, T, Mowat, D, Schultz, A, Selvadurai, H, Tai, A, Jaffe, A, Kelada, L, Wakefield, C, Vidic, N, Armstrong, DS, Bennetts, B, Boggs, K, Christodoulou, J, Harrison, J, Ho, G, Kapur, N, Lindsey-Temple, S, McDonald, T, Mowat, D, Schultz, A, Selvadurai, H, Tai, A, and Jaffe, A

Abstract

OBJECTIVE: Research is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung disease (chILD). We explored parent's and child's health-related quality of life (HRQoL), parents' perceived understanding of a genomic testing study, satisfaction with information and the study and decisional regret to undertake genomic testing. METHODS: Parents of children with diagnosed or suspected chILD who were enrolled in a genomic sequencing study were invited to complete questionnaires pretesting (T1) and after receiving the result (T2). RESULTS: Parents' (T1, n=19; T2, n=17) HRQoL was lower than population norms. Study satisfaction (T1) and perceived understanding (T2) were positively correlated (rs=0.68, p=0.014). Satisfaction with information (T1 and T2) and decisional regret (T2) were negatively correlated (T1 rs=-0.71, p=0.01; T2 rs=-0.56, p=0.03). Parents reported wanting more frequent communication with staff throughout the genomic sequencing study, and greater information about the confidentiality of test results. CONCLUSIONS: Understanding of genomic testing, satisfaction with information and participation and decisional regret are inter-related. Pretest consultations are important and can allow researchers to explain confidentiality of data and the variable turnaround times for receiving a test result. Staff can also update parents when there will be delays to receiving a result.

Published
2022

84. FeMV is a cathepsin-dependent unique morbillivirus infecting the kidneys of domestic cats

Author

Nambulli, S., Rennick, L.J., Acciardo, A.S., Tilston-Lunel, N.L., Ho, G., Crossland, N.A., Hardcastle, K., Nieto, B., Bainbridge, G., Williams, T., Sharp, C.R., Duprex, W.P., Nambulli, S., Rennick, L.J., Acciardo, A.S., Tilston-Lunel, N.L., Ho, G., Crossland, N.A., Hardcastle, K., Nieto, B., Bainbridge, G., Williams, T., Sharp, C.R., and Duprex, W.P.

Abstract

Feline morbillivirus (FeMV) is a recently discovered pathogen of domestic cats and has been classified as a morbillivirus in the Paramyxovirus family. We determined the complete sequence of FeMVUS5 directly from an FeMV-positive urine sample without virus isolation or cell passage. Sequence analysis of the viral genome revealed potential divergence from characteristics of archetypal morbilliviruses. First, the virus lacks the canonical polybasic furin cleavage signal in the fusion (F) glycoprotein. Second, conserved amino acids in the hemagglutinin (H) glycoprotein used by all other morbilliviruses for binding and/or fusion activation with the cellular receptor CD150 (signaling lymphocyte activation molecule [SLAM]/F1) are absent. We show that, despite this sequence divergence, FeMV H glycoprotein uses feline CD150 as a receptor and cannot use human CD150. We demonstrate that the protease responsible for cleaving the FeMV F glycoprotein is a cathepsin, making FeMV a unique morbillivirus and more similar to the closely related zoonotic Nipah and Hendra viruses. We developed a reverse genetics system for FeMVUS5 and generated recombinant viruses expressing Venus fluorescent protein from an additional transcription unit located either between the phospho-protein (P) and matrix (M) genes or the H and large (L) genes of the genome. We used these recombinant FeMVs to establish a natural infection and demonstrate that FeMV causes an acute morbillivirus-like disease in the cat. Virus was shed in the urine and detectable in the kidneys at later time points. This opens the door for long-term studies to address the postulated role of this morbillivirus in the development of chronic kidney disease.

Published
2022

85. Simple energy-efficient electrochemically-driven CO2 scrubbing for biogas upgrading

Author

Mohammadpour, H., Cord-Ruwisch, R., Pivrikas, A., Ho, G., Mohammadpour, H., Cord-Ruwisch, R., Pivrikas, A., and Ho, G.

Abstract

The conversion of biogas to biomethane represents an attractive solution to replace fossil gas with a renewable gas. However, removal of such a large percentage of CO2 from a fuel gas comes at a significant energy cost using the conventional CO2 capture technologies and hence has led to an opportunity to develop an alternative technique for large-scale carbon capture. Results of the current study suggest that employing an anion exchange membrane (AEM)-based alkaline water electrolyser for CO2 removal from gas mixtures offers an energy-efficient strategy for the capture and removal of CO2 from biogas. After capturing CO2 in an aqueous absorption column, the resulting bicarbonate solution was fed through the cathode of an AEM-based electrolyser. Although the CO2 absorption rate increased from about 300 to 900 mol m−3 h−1 when the pH was elevated from 9 to 13, the system's energy requirement was lowest at pH = 9. The economic assessment shows that the electrochemical work requirement for CO2 removal from biogas using the AEM-based alkaline electrolyser ranges between 0.25 and 0.92 kWh/kg CO2 at optimum conditions (pH = 9). This could potentially reduce the energy input for CO2 removal by about 50% compared to commercially available biogas upgrading technologies.

Published
2022

86. Suppression of the ABCA1 Cholesterol Transporter Impairs the Growth and Migration of Epithelial Ovarian Cancer

Author

Gao, J, Jung, M, Williams, RT, Hui, D, Russell, AJ, Naim, AJ, Kamili, A, Clifton, M, Bongers, A, Mayoh, C, Ho, G, Scott, CL, Jessup, W, Haber, M, Norris, MD, Henderson, MJ, Gao, J, Jung, M, Williams, RT, Hui, D, Russell, AJ, Naim, AJ, Kamili, A, Clifton, M, Bongers, A, Mayoh, C, Ho, G, Scott, CL, Jessup, W, Haber, M, Norris, MD, and Henderson, MJ

Abstract

BACKGROUND: Epithelial ovarian cancer (EOC) is the most lethal gynaecological malignancy with over 80% of cases already disseminated at diagnosis and facing a dismal five-year survival rate of 35%. EOC cells often spread to the greater omentum where they take-up cholesterol. Excessive amounts of cholesterol can be cytocidal, suggesting that cholesterol efflux through transporters may be important to maintain homeostasis, and this may explain the observation that high expression of the ATP-binding cassette A1 (ABCA1) cholesterol transporter has been associated with poor outcome in EOC patients. METHODS: ABCA1 expression was silenced in EOC cells to investigate the effect of inhibiting cholesterol efflux on EOC biology through growth and migration assays, three-dimensional spheroid culture and cholesterol quantification. RESULTS: ABCA1 suppression significantly reduced the growth, motility and colony formation of EOC cell lines as well as the size of EOC spheroids, whilst stimulating expression of ABCA1 reversed these effects. In serous EOC cells, ABCA1 suppression induced accumulation of cholesterol. Lowering cholesterol levels using methyl-B-cyclodextrin rescued the effect of ABCA1 suppression, restoring EOC growth. Furthermore, we identified FDA-approved agents that induced cholesterol accumulation and elicited cytocidal effects in EOC cells. CONCLUSIONS: Our data demonstrate the importance of ABCA1 in maintaining cholesterol balance and malignant properties in EOC cells, highlighting its potential as a therapeutic target for this disease.

Published
2022

87. The role of exome sequencing in childhood interstitial or diffuse lung disease

Author

Temple, SEL, Ho, G, Bennetts, B, Boggs, K, Vidic, N, Mowat, D, Christodoulou, J, Schultz, A, Gayagay, T, Roscioli, T, Zhu, Y, Lunke, S, Armstrong, D, Harrison, J, Kapur, N, McDonald, T, Selvadurai, H, Tai, A, Stark, Z, Jaffe, A, Temple, SEL, Ho, G, Bennetts, B, Boggs, K, Vidic, N, Mowat, D, Christodoulou, J, Schultz, A, Gayagay, T, Roscioli, T, Zhu, Y, Lunke, S, Armstrong, D, Harrison, J, Kapur, N, McDonald, T, Selvadurai, H, Tai, A, Stark, Z, and Jaffe, A

Abstract

BACKGROUND: Children's interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality. We assessed the diagnostic utility of using trio exome sequencing in chILD. We prospectively enrolled children meeting specified clinical criteria between 2016 and 2020 from 16 Australian hospitals. Exome sequencing was performed with analysis of an initial gene panel followed by trio exome analysis. A subset of critically ill infants underwent ultra-rapid trio exome sequencing as first-line test. RESULTS: 36 patients [median (range) age 0.34 years (0.02-11.46); 11F] were recruited from multiple States and Territories. Five patients had clinically significant likely pathogenic/pathogenic variants (RARB, RPL15, CTCF, RFXANK, TBX4) and one patient had a variant of uncertain significance (VIP) suspected to contribute to their clinical phenotype, with VIP being a novel gene candidate. CONCLUSIONS: Trio exomes (6/36; 16.7%) had a better diagnostic rate than gene panel (1/36; 2.8%), due to the ability to consider a broader range of underlying conditions. However, the aetiology of chILD in most cases remained undetermined, likely reflecting the interplay between low penetrant genetic and environmental factors.

Published
2022

99. MMS Observation of Inverse Energy Dispersion in Shock Drift Accelerated Ions

Author

Lee, S. H, Sibeck, D. G, Hwang, K.-J, Wang, Y, Silveira, M. V. D, Chu, C, Mauk, B. H, Cohen, I. J, Ho, G. C, Mason, G.M, Gold, R. E, Burch, J. L, Giles, B. L, Torbert, R. B, Russell, C. T, and Wei, H

Subjects
Solar Physics
Abstract

The four Magnetospheric Multiscale (MMS) spacecraft observed a ∼1 min burst of energetic ions (50–1000 keV) in the region upstream from the subsolar quasi-perpendicular bow shock on 6 December 2015. The composition, flux levels, and spectral indices of these energetic protons, helium, and oxygen ions greatly resemble those seen in the outer magnetosphere earlier while MMS crossed the magnetopause and differ significantly from those simultaneously observed far upstream by Advanced Composition Explorer (ACE). However, the event cannot be explained solely in terms of leakage from the magnetosphere. The strongly southward orientation of the interplanetary magnetic field (IMF) lines at the time of the event precludes any connection to the magnetosphere. This point is confirmed by the presence of energetic electrons, known to occur on magnetic field lines that graze the bow shock rather than connect to the magnetosphere. We suggest that the ions gradient drifted out of the nearby quasi-parallel foreshock and into the quasi-perpendicular bow shock. Each of the ion species exhibited an inverse energy dispersion. As predicted by models for shock drift acceleration, the energies of the ions increased as 𝜃(sub Bn), the angle between the IMF and the shock normal, increased. Finally, we note that a similar event was observed a few minutes later in the subsolar magnetosheath, indicating that such events can be swept downstream of the bow shock.

Published
2017
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