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163. Students’, parents’ and teachers’ views about the resources required by school nurses in Perth, Western Australia

Author

McCluskey, A., Kendall, G., Burns, S., McCluskey, A., Kendall, G., and Burns, S.

Abstract

Background Nurses play a significant role in promoting health in schools; however, they are often poorly resourced to do so. Aims The aim of the study was to identify the perceptions of students, parents and teachers regarding the resources school nurses require in order to practise effectively in the secondary school environment in Perth, Western Australia. Methods One-on-one interviews were conducted with parents, teachers, nurses, school principals and school counsellors. Focus groups were conducted at three schools with students in years 10, 11 and 12, parents and teachers. Interviews and focus group data were analysed using thematic analysis. Results It was acknowledged that nurses in all schools were under-resourced, with large student numbers contributing to high workloads. The importance of privacy during a visit to the school nurse was highlighted by students. All stakeholders discussed the advantages of nurses completing extra qualifications, in addition to an undergraduate degree. Appropriate support and supervision were also highlighted. Conclusions School nurses need to thoroughly document and describe the work that they do and collaborate within the school community to advocate for increased resources. There is a great need for further research regarding the school nurse role involving the whole school community, and most importantly the students.

Published
2019

164. The Cost of Osteoporosis, Osteopenia, and Associated Fractures in Australia in 2017

Author

Tatangelo, G, Watts, J, Lim, K, Connaughton, C, Abimanyi-Ochom, J, Borgstrom, F, Nicholson, GC, Shore-Lorenti, C, Stuart, AL, Iuliano-Burns, S, Seeman, E, Prince, R, March, L, Cross, M, Winzenberg, T, Laslett, LL, Duque, G, Ebeling, PR, Sanders, KM, Tatangelo, G, Watts, J, Lim, K, Connaughton, C, Abimanyi-Ochom, J, Borgstrom, F, Nicholson, GC, Shore-Lorenti, C, Stuart, AL, Iuliano-Burns, S, Seeman, E, Prince, R, March, L, Cross, M, Winzenberg, T, Laslett, LL, Duque, G, Ebeling, PR, and Sanders, KM

Published
2019

165. Creating a dementia enabling university using a Knowledge Translation approach: Innovative practice

Author

Phillipson, L, Fleming, R, Swaffer, K, Steele, L, Sheridan, L, Burns, S, Cappetta, K, Cridland, E, Phillipson, L, Fleming, R, Swaffer, K, Steele, L, Sheridan, L, Burns, S, Cappetta, K, and Cridland, E

Abstract

© The Author(s) 2019. Universities can promote social impact by developing a dementia literate workforce. The Dementia Enabling University Strategy utilised a knowledge translation framework in an Australian university to inspire and support academics to engage students and consider how their skills and knowledge could contribute to the creation of more supportive environments for people with dementia. Dementia Enabling University Strategy ran across eight disciplines: law, media, social sciences, public health, engineering, business, marketing and psychology and was successful in engaging university academics and students. However, a longer term strategy is needed to embed ‘dementia’ as core business to the university impact agenda.

Published
2019

167. Forest set-aside policy for International biodiversity targets? Obstructive bureaucratic territoriality in Germany and Sweden.

Author

LOGMANI-AßMANN, J., LINDAHL, K. BELAND, KROTT, M., BURNS, S. L., and GIESSEN, L.

Subjects
FOREST policy, FOREST management, BIODIVERSITY, FOREST biodiversity, PROTECTED areas, FORESTS & forestry, BUREAUCRACY
Abstract

Copyright of International Forestry Review is the property of Commonwealth Forestry Association and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2021
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183. ‘Who is on your health‐care team?’ Asking individuals with heart failure about care team membership and roles

Author

LaDonna, Kori A., Bates, Joanna, Tait, Glendon R., McDougall, Allan, Schulz, Valerie, Lingard, Lorelei, Burge, F., Burnett, S., Harkness, K., Marshall, D., McKelvie, R., Strachan, P., Lowery, D., Ward, D., Smith, S., Kimel, G., Nimmon, L., Shadd, J., Arnold, M., and Burns, S.

Subjects
Adult, Male, medicine.medical_specialty, Canada, interprofessional teams, education, Team effectiveness, Psychological safety, Context (language use), frailty, 030204 cardiovascular system & hematology, Interviews as Topic, 03 medical and health sciences, 0302 clinical medicine, Professional Role, Nursing, Agency (sociology), Health care, Medicine, Humans, 030212 general & internal medicine, Qualitative Research, patient‐centred care, Aged, Team composition, Aged, 80 and over, Heart Failure, Patient Care Team, Descriptive statistics, Primary Health Care, business.industry, Public Health, Environmental and Occupational Health, Middle Aged, 3. Good health, Original Research Paper, Patient Satisfaction, Family medicine, Female, business, Original Research Papers, chronic disease, Qualitative research
Abstract

Background Complex, chronically ill patients require interprofessional teams to address their multiple health needs; heart failure (HF) is an iconic example of this growing problem. While patients are the common denominator in interprofessional care teams, patients have not explicitly informed our understanding of team composition and function. Their perspectives are crucial for improving quality, patient-centred care. Objectives To explore how individuals with HF conceptualize their care team, and perceive team members' roles. Setting and Participants Individuals with advanced HF were recruited from five cities in three Canadian provinces. Design Individuals were asked to identify their HF care team during semi-structured interviews. Team members' titles and roles, quotes pertaining to team composition and function, and frailty criteria were extracted and analysed using descriptive statistics and content analysis. Results A total of 62 individuals with HF identified 2–19 team members. Caregivers, nurses, family physicians and cardiologists were frequently identified; teams also included dentists, foot care specialists, drivers, housekeepers and spiritual advisors. Most individuals met frailty criteria and described participating in self-management. Discussion Individuals with HF perceived being active participants, not passive recipients, of care. They identified teams that were larger and more diverse than traditional biomedical conceptualizations. However, the nature and importance of team members' roles varied according to needs, relationships and context. Patients' degree of agency was negotiated within this context, causing multiple, sometimes conflicting, responses. Conclusion Ignoring the patient's role on the care team may contribute to fragmented care. However, understanding the team through the patient's lens – and collaborating meaningfully among identified team members – may improve health-care delivery.

Published
2016

189. Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes

Author

Whitworth, J, Smith, PS, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, RT, Armstrong, R, Cole, T, Evans, DG, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, KR, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, ER, Tischkowitz, MD, Maher, ER, Aitman, T, Alachkar, H, Ali, S, Allen, L, Allsup, D, Ambegaonkar, G, Anderson, J, Antrobus, R, Arno, G, Arumugakani, G, Astle, W, Attwood, A, Austin, S, Bacchelli, C, Bakchoul, T, Bariana, TK, Baxendale, H, Bennett, D, Bethune, C, Bibi, S, Bitner-Glindzicz, M, Bleda, M, Boggard, H, Bolton-Maggs, P, Booth, C, Bradley, JR, Brady, A, Brown, M, Browning, M, Bryson, C, Burns, S, Calleja, P, Canham, N, Carmichael, J, Caulfield, M, Chalmers, E, Chandra, A, Chinnery, P, Chitre, M, Church, C, Clement, E, Clements-Brod, N, Clowes, V, Coghlan, G, Collins, P, Cookson, V, Cooper, N, Corris, P, Creaser-Myers, A, Dacosta, R, Daugherty, L, Davies, S, Davis, J, De Vries, M, Deegan, P, Deevi, SVV, Deshpande, C, Devlin, L, Dewhurst, E, Dixon, P, Doffinger, R, Dormand, N, Drewe, E, Edgar, D, Egner, W, Erber, WN, Erwood, M, Everington, T, Favier, R, Firth, H, Fletcher, D, Flinter, F, Frary, A, Freson, K, Furie, B, Furnell, A, Gale, D, Gardham, A, Gattens, M, Ghali, N, Ghataorhe, PK, Ghurye, R, Gibbs, S, Gilmour, K, Gissen, P, Goddard, S, Gomez, K, Gordins, P, Graf, S, Gräf, S, Greene, D, Greenhalgh, A, Greinacher, A, Grigoriadou, S, Grozeva, D, Hackett, S, Hadinnapola, C, Hague, R, Haimel, M, Halmagyi, C, Hammerton, T, Hart, D, Hayman, G, Heemskerk, JWM, Henderson, R, Hensiek, A, Henskens, Y, Herwadkar, A, Holden, S, Holder, M, Holder, S, Hu, F, Veld, A, Huissoon, A, Humbert, M, Hurst, J, James, R, Jolles, S, Josifova, D, Kazmi, R, Keeling, D, Kelleher, P, Kelly, AM, Kennedy, F, Kiely, D, Kingston, N, Koziell, A, Krishnakumar, D, Kuijpers, TW, Kuijpers, T, Kumararatne, D, Kurian, M, Laffan, MA, Lambert, MP, Allen, HL, Lango-Allen, H, Lawrie, A, Lear, S, Lees, M, Lentaigne, C, Liesner, R, Linger, R, Longhurst, H, Lorenzo, L, Louka, E, Machado, R, Ross, RM, Maclaren, R, Maher, E, Maimaris, J, Mangles, S, Manson, A, Markus, HS, Martin, J, Masati, L, Mathias, M, Matser, V, Maw, A, McDermott, E, McJannet, C, Meacham, S, Meehan, S, Mehta, S, Michaelides, M, Millar, CM, Moledina, S, Moore, A, Morrell, N, Mumford, A, Murng, S, Murphy, E, Nejentsev, S, Noorani, S, Nurden, P, Oksenhendler, E, Othman, S, Ouwehand, WH, Papadia, S, Parker, A, Pasi, J, Patch, C, Payne, J, Peacock, A, Peerlinck, K, Penkett, CJ, Pepke-Zaba, J, Perry, D, Perry, DJ, Pollock, V, Polwarth, G, Ponsford, M, Qasim, W, Quinti, I, Rankin, S, Rankin, J, Raymond, FL, Rayner-Matthews, P, Rehnstrom, K, Reid, E, Rhodes, CJ, Richards, M, Richardson, S, Richter, A, Roberts, I, Rondina, M, Rosser, E, Roughley, C, Roy, N, Rue-Albrecht, K, Samarghitean, C, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R, Savic, S, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Seneviratne, S, Sewell, C, Shamardina, O, Shipley, D, Simeoni, I, Sivapalaratnam, S, Smith, KGC, Sohal, A, Southgate, L, Staines, S, Staples, E, Stark, H, Stauss, H, Stein, P, Stock, S, Suntharalingam, J, Talks, K, Tan, Y, Thachil, J, Thaventhiran, J, Thomas, E, Thomas, M, Thompson, D, Thrasher, A, Tischkowitz, M, Titterton, C, Toh, C-H, Toshner, M, Treacy, C, Trembath, R, Tuna, S, Turek, W, Turro, E, Van Geet, C, Veltman, M, Vogt, J, Von Ziegenweldt, J, Noordegraaf, AV, Wakeling, E, Wanjiku, I, Warner, TQ, Wassmer, E, Watkins, H, Watt, C, Webster, N, Welch, S, Westbury, S, Wharton, J, Whitehorn, D, Wilkins, M, Willcocks, L, Williamson, C, Woods, G, Wort, J, Yeatman, N, Yong, P, Young, T, and Yu, P

Abstract

Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment and molecular investigations, pathogenic variants in moderate- and high-risk CPGs were detected in 67/440 (15.2%) probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies, including low-frequency structural variants (6/440 [1.4%] probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant), the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice-site CPG variants and at least one discordant tumor type was significantly higher than in a control population (χ2 = 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals.

Published
2018
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190. Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Author

Tuijnenburg, P., Lango Allen, H., Burns, S.O., Greene, D., Jansen, M.H., Staples, E., Stephens, J., Carss, K.J., Biasci, D., Baxendale, H., Thomas, M., Chandra, A., Kiani-Alikhan, S., Longhurst, H.J., Seneviratne, S.L., Oksenhendler, E., Simeoni, I., de Bree, G.J., Tool, A.T.J., van Leeuwen, E.M.M., Ebberink, E.H.T.M., Meijer, A.B., Tuna, S., Whitehorn, D., Brown, M., Turro, E., Thrasher, A.J., Smith, K.G.C., Thaventhiran, J.E., Kuijpers, T.W., Adhya, Z., Alachkar, H., Anantharachagan, A., Antrobus, R., Arumugakani, G., Bacchelli, C., Bethune, C., Bibi, S., Boardman, B., Booth, C., Browning, M., Brownlie, M., Burns, S., Clifford, H., Cooper, N., Davies, S., Dempster, J., Devlin, L., Doffinger, R., Drewe, E., Edgar, D., Egner, W., El-Shanawany, T., Gaspar, B., Ghurye, R., Gilmour, K., Goddard, S., Gordins, P., Grigoriadou, S., Hackett, S., Hague, R., Harper, L., Hayman, G., Herwadkar, A., Hughes, S., Huissoon, A., Jolles, S., Jones, J., Kelleher, P., Klein, N., Kuijpers, T., Kumararatne, D., Laffan, J., Allen, H.L., Lear, S., Longhurst, H., Lorenzo, L., Maimaris, J., Manson, A., McDermott, E., Millar, H., Mistry, A., Morrisson, V., Murng, S., Nasir, I., and Nejentsev, S.

Abstract

Background: The genetic cause of primary immunodeficiency disease (PID) carries prognostic information. Objective: We conducted a whole-genome sequencing study assessing a large proportion of the NIHR BioResource–Rare Diseases cohort. Methods: In the predominantly European study population of principally sporadic unrelated PID cases (n = 846), a novel Bayesian method identified nuclear factor κB subunit 1 (NFKB1) as one of the genes most strongly associated with PID, and the association was explained by 16 novel heterozygous truncating, missense, and gene deletion variants. This accounted for 4% of common variable immunodeficiency (CVID) cases (n = 390) in the cohort. Amino acid substitutions predicted to be pathogenic were assessed by means of analysis of structural protein data. Immunophenotyping, immunoblotting, and ex vivo stimulation of lymphocytes determined the functional effects of these variants. Detailed clinical and pedigree information was collected for genotype-phenotype cosegregation analyses. Results: Both sporadic and familial cases demonstrated evidence of the noninfective complications of CVID, including massive lymphadenopathy (24%), unexplained splenomegaly (48%), and autoimmune disease (48%), features prior studies correlated with worse clinical prognosis. Although partial penetrance of clinical symptoms was noted in certain pedigrees, all carriers have a deficiency in B-lymphocyte differentiation. Detailed assessment of B-lymphocyte numbers, phenotype, and function identifies the presence of an increased CD21lowB-cell population. Combined with identification of the disease-causing variant, this distinguishes between healthy subjects, asymptomatic carriers, and clinically affected cases. Conclusion: We show that heterozygous loss-of-function variants in NFKB1 are the most common known monogenic cause of CVID, which results in a temporally progressive defect in the formation of immunoglobulin-producing B cells.

Published
2018

191. Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Author

Farmery, JHR, Smith, ML, Lynch, AG, Huissoon, A, Furnell, A, Mead, A, Levine, AP, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, AJ, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, In't Veld, AH, Maw, A, Kelly, AM, Moore, A, Noordegraaf, AV, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, AC, Girerd, B, Furie, B, Treacy, CM, Millar, CM, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C-H, Bacchelli, C, Patch, C, Van Geet, C, Babbs, C, Bryson, C, Penkett, CJ, Rhodes, CJ, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, DG, Gosal, D, Perry, DJ, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, EKS, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, FL, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, HT, Alachkar, H, Allen, HL, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, HJ, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, HS, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, JSR, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, JM, Martin, J, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, JWM, Gebhart, J, Davis, J, Pasi, J, Bradley, JR, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, Von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, KGC, Carss, K, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, MA, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, MP, Makris, M, De Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M, Clements-Brod, N, Canham, N, Dormand, N, Van Zuydam, N, Kingston, N, Ghali, N, Cooper, N, Morrell, NW, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, OS, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Yu-Wai-Man, P, Corris, PA, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, PK, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, RC, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, MackenzieRoss, RV, Henderson, R, MacLaren, R, James, R, Ghurye, R, DaCosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S-M, Davies, S, Stock, S, Deevi, SVV, Graf, S, Ghio, S, Wort, SJ, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T, Kuijpers, TW, Bariana, TK, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, TQ, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, WN, Ouwehand, WH, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y, Lynch, Andy G [0000-0002-7876-7338], Apollo - University of Cambridge Repository, Medical Research Council (MRC), and British Heart Foundation

Subjects
Whole genome sequencing, 0303 health sciences, Multidisciplinary, Science & Technology, lcsh:R, lcsh:Medicine, Computational biology, Biology, Telomere, Multidisciplinary Sciences, 03 medical and health sciences, 0302 clinical medicine, NIHR BioResource - Rare Diseases, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Science & Technology - Other Topics, lcsh:Q, Ploidy, lcsh:Science, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract

Correction to: Scientific Reports https://doi.org/10.1038/s41598-017-14403-y, published online 22 January 2018 The original version of this Article contained a typographical error in the spelling of the consortium member Patrick Yu-Wai-Man which was incorrectly given as Patrick Yu Wai Man. In addition, a supplementary file containing additional algorithms and analysis was omitted from the original version of this Article. These errors have now been corrected in the HTML and PDF versions of the Article.

Published
2018

192. Clinical and laboratory features of seventy-eight UK patients with Good’s syndrome (thymoma and hypogammaglobulinaemia):Good’s syndrome in the UK

Author

Zaman, M., Huissoon, A., Buckland, M., Patel, S., Alachkar, H., Edgar, J. D., Thomas, M., Arumugakani, G., Baxendale, H., Burns, S., Williams, A. P., Jolles, S., Herriot, R., Sargur, R. B., and Arkwright, P. D.

Subjects
hemic and lymphatic diseases
Abstract

Good’s syndrome (thymoma and hypogammaglobulinaemia) is a rare secondary immunodeficiency disease, previously reported in the published literature as mainly individual cases or small case series. We use the national UK‐Primary Immune Deficiency (UKPID) registry to identify a large cohort of patients in the UK with this PID to review its clinical course, natural history and prognosis. Clinical information, laboratory data, treatment and outcome were collated and analysed. Seventy‐eight patients with a median age of 64 years, 59% of whom were female, were reviewed. Median age of presentation was 54 years. Absolute B cell numbers and serum immunoglobulins were very low in all patients and all received immunoglobulin replacement therapy. All patients had undergone thymectomy and nine (12%) had thymic carcinoma (four locally invasive and five had disseminated disease) requiring adjuvant radiotherapy and/or chemotherapy. CD4 T cells were significantly lower in these patients with malignant thymoma. Seventy‐four (95%) presented with infections, 35 (45%) had bronchiectasis, seven (9%) chronic sinusitis, but only eight (10%) had serious invasive fungal or viral infections. Patients with AB‐type thymomas were more likely to have bronchiectasis. Twenty (26%) suffered from autoimmune diseases (pure red cell aplasia, hypothyroidism, arthritis, myasthenia gravis, systemic lupus erythematosus, Sjögren’s syndrome). There was no association between thymoma type and autoimmunity. Seven (9%) patients had died. Good’s syndrome is associated with significant morbidity relating to infectious and autoimmune complications. Prospective studies are required to understand why some patients with thymoma develop persistent hypogammaglobulinaemia.

Published
2018
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193. A magnetic phase diagram for nanoscale epitaxial BiFeO3 films

Author

Sando, D., primary, Appert, F., additional, Xu, Bin, additional, Paull, O., additional, Burns, S. R., additional, Carrétéro, C., additional, Dupé, B., additional, Garcia, V., additional, Gallais, Y., additional, Sacuto, A., additional, Cazayous, M., additional, Dkhil, B., additional, Le Breton, J. M., additional, Barthélémy, A., additional, Bibes, M., additional, Bellaiche, L., additional, Nagarajan, V., additional, and Juraszek, J., additional

Published
2019
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194. Influence of flexoelectricity on the spin cycloid in (110)-oriented BiFeO3 films

Author

Sando, D., primary, Appert, F., additional, Burns, S. R., additional, Zhang, Q., additional, Gallais, Y., additional, Sacuto, A., additional, Cazayous, M., additional, Garcia, V., additional, Fusil, S., additional, Carrétéro, C., additional, Le Breton, J. M., additional, Barthélémy, A., additional, Bibes, M., additional, Juraszek, J., additional, and Nagarajan, V., additional

Published
2019
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196. Sustained Nonphotochemical Quenching Shapes the Seasonal Pattern of Solar‐Induced Fluorescence at a High‐Elevation Evergreen Forest

Author

Raczka, Brett, primary, Porcar‐Castell, A., additional, Magney, T., additional, Lee, J. E., additional, Köhler, P., additional, Frankenberg, C., additional, Grossmann, K., additional, Logan, B. A., additional, Stutz, J., additional, Blanken, P. D., additional, Burns, S. P., additional, Duarte, H., additional, Yang, X., additional, Lin, J. C., additional, and Bowling, D. R., additional

Published
2019
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197. The Role for Off-Site/Home Visits in the Post ICU Care Continuum

Author

Waters, B., primary, Matte, A., additional, Chu, L., additional, Chan, L., additional, Thomas, C., additional, Burns, S., additional, Robles, P., additional, Lee, C., additional, Wilcox, E., additional, Huszti, E., additional, Tomlinson, G., additional, Mehta, S., additional, Adhikari, N., additional, Freidrich, J., additional, Ferguson, N., additional, Lamontagne, F., additional, Skrobik, Y., additional, Rudkowski, J.C., additional, Cook, D.J., additional, Meggison, H., additional, Cameron, J., additional, and Herridge, M.S., additional

Published
2019
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