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3,471 results on '"Sullivan, K."'

208. A preliminary service evaluation of a personality disorder case management service

Author

Graham, S., Sullivan, K., Briggs, L., Goodall, M., Iraci Capucinello, R., Graham, S., Sullivan, K., Briggs, L., Goodall, M., and Iraci Capucinello, R.

Abstract

Aims: The aim of this study is to assess the impact of establishing a specialized community personality disorder team on out of area placements, local hospital admissions and out of hours crisis contacts for service users with borderline personality disorder. Method: This is a before–after interim evaluation of a new service. We tested, through a paired t-test, whether the intervention generated statistically significant differences over a range of measures of service usage, including out of area placements, local hospital admissions and out of hours crisis contacts. Data from 12 months after the intervention started were compared with the previous 12 months of routine care, to determine the effect on crisis contacts, days in hospital and those returning from/or sent out of area for care. Finally, we have assessed the likelihood to generate cost savings. Results: All service users in out of area placements were repatriated to live in the community locally (100%), and there was a statistically significant decrease in inpatient admissions (80%). This was counterbalanced by a smaller but statistically significant increase in out of hours community crisis contacts (30%), although these reduced over time. Conclusion: Reorganizing local care pathways can lead to less out of area placements and less hospital admissions.

Published
2019

209. The emergence of Exercise Addiction, Body Dysmorphic Disorder, and other image-related psychopathological correlates in fitness settings: A cross sectional study

Author

Corazza, O, Simonato, P, Demetrovics, Z, Mooney, R, van de Ven, K, Roman-Urrestarazu, A, Rácmolnár, L, De Luca, I, Cinosi, E, Santacroce, R, Marini, M, Wellsted, D, Sullivan, K, Bersani, G, Martinotti, G, Corazza, O, Simonato, P, Demetrovics, Z, Mooney, R, van de Ven, K, Roman-Urrestarazu, A, Rácmolnár, L, De Luca, I, Cinosi, E, Santacroce, R, Marini, M, Wellsted, D, Sullivan, K, Bersani, G, and Martinotti, G

Abstract

Introduction In a society that perpetuates the strive for a perfect appearance, a fit body has become synonymous with success, but simultaneously hard to achieve. This represents a fertile ground for the development of Exercise Addiction (EA) alongside other disorders, such as Body Dysmorphic Disorder (BDD). This study aims to explore the diffusion of EA in fitness settings in the United Kingdom, Italy, Netherlands, Hungary and the previously unexplored association with appearance anxiety, BDD, self-esteem and the use of fitness supplements. Methods A large cross-sectional sample (N = 1711) was surveyed in fitness settings using the Exercise Addiction Inventory (EAI), Appearance Anxiety Inventory (AAI) and Rosenberg’s Self Esteem Scale (RSE) in addition to questions surrounding the use of fitness supplements. Results Compulsive exercise, appearance anxiety and low self-esteem were present in this sample according to the psychometric measures used (EAI, AAI, RSE). 11.7% scored over the cut off for EA, with alarming peaks in the Netherlands (20.9%) and the United Kingdom (16.1%). 38.5% were found at risk of BDD, mainly female (47.2%). 39.8% used fitness enhancing supplements without medical consultation (95.5%). This cohort of supplement users scored higher in both EAI and AAI. The logistic regression model revealed a strong association between the consumption of sport products and the level of EA across the sample with an odds ratio (OR) of 3.03. Other co-variable factors among female were appearance anxiety (AAI; OR 1.59) and to a lesser extent self-esteem (RSE) (OR 1.08). Conclusions This study identified a high risk of EA, appearance anxiety and BDD amongst a cohort of gym users internationally. The previously-unexplored association between these disorders and the unsupervised use of a variety of fitness products, including illicit drugs, highlights the need for informed and integrated responses targeting such vulnerable individuals.

Published
2019

210. Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study

Author

Ferrua, F, Galimberti, S, Courteille, V, Slatter, M, Booth, C, Moshous, D, Neven, B, Blanche, S, Laberko, A, Shcherbina, A, Balashov, D, Soncini, E, Porta, F, Al-Mousa, H, Al-Saud, B, Al-Dhekri, H, Arnaout, R, Formankova, R, Bertrand, Y, Lange, A, Smart, J, Wolska-Kusnierz, B, Aquino, V, Dvorak, C, Fasth, A, Fouyssac, F, Heilmann, C, Hoenig, M, Schuetz, C, Kelečić, J, Bredius, R, Lankester, A, Lindemans, C, Suarez, F, Sullivan, K, Albert, M, Kałwak, K, Barlogis, V, Bhatia, M, Bordon, V, Czogala, W, Alonso, L, Dogu, F, Gozdzik, J, Ikinciogullari, A, Kriván, G, Ljungman, P, Meyts, I, Mustillo, P, Smith, A, Speckmann, C, Sundin, M, Keogh, S, Shaw, P, Boelens, J, Schulz, A, Sedlacek, P, Veys, P, Mahlaoui, N, Janda, A, Davies, E, Fischer, A, Cowan, M, Gennery, A, Ferrua, Francesca, Galimberti, Stefania, Courteille, Virginie, Slatter, Mary Anne, Booth, Claire, Moshous, Despina, Neven, Benedicte, Blanche, Stephane, Laberko, Alexandra, Shcherbina, Anna, Balashov, Dmitry, Soncini, Elena, Porta, Fulvio, Al-Mousa, Hamoud, Al-Saud, Bandar, Al-Dhekri, Hasan, Arnaout, Rand, Formankova, Renata, Bertrand, Yves, Lange, Andrzej, Smart, Joanne, Wolska-Kusnierz, Beata, Aquino, Victor M, Dvorak, Christopher C, Fasth, Anders, Fouyssac, Fanny, Heilmann, Carsten, Hoenig, Manfred, Schuetz, Catharina, Kelečić, Jadranka, Bredius, Robbert G M, Lankester, Arjan C, Lindemans, Caroline A, Suarez, Felipe, Sullivan, Kathleen E, Albert, Michael H, Kałwak, Krzysztof, Barlogis, Vincent, Bhatia, Monica, Bordon, Victoria, Czogala, Wojciech, Alonso, Laura, Dogu, Figen, Gozdzik, Jolanta, Ikinciogullari, Aydan, Kriván, Gergely, Ljungman, Per, Meyts, Isabelle, Mustillo, Peter, Smith, Angela R, Speckmann, Carsten, Sundin, Mikael, Keogh, Steven John, Shaw, Peter John, Boelens, Jaap Jan, Schulz, Ansgar S, Sedlacek, Petr, Veys, Paul, Mahlaoui, Nizar, Janda, Ales, Davies, E Graham, Fischer, Alain, Cowan, Morton J, Gennery, Andrew Richard, Ferrua, F, Galimberti, S, Courteille, V, Slatter, M, Booth, C, Moshous, D, Neven, B, Blanche, S, Laberko, A, Shcherbina, A, Balashov, D, Soncini, E, Porta, F, Al-Mousa, H, Al-Saud, B, Al-Dhekri, H, Arnaout, R, Formankova, R, Bertrand, Y, Lange, A, Smart, J, Wolska-Kusnierz, B, Aquino, V, Dvorak, C, Fasth, A, Fouyssac, F, Heilmann, C, Hoenig, M, Schuetz, C, Kelečić, J, Bredius, R, Lankester, A, Lindemans, C, Suarez, F, Sullivan, K, Albert, M, Kałwak, K, Barlogis, V, Bhatia, M, Bordon, V, Czogala, W, Alonso, L, Dogu, F, Gozdzik, J, Ikinciogullari, A, Kriván, G, Ljungman, P, Meyts, I, Mustillo, P, Smith, A, Speckmann, C, Sundin, M, Keogh, S, Shaw, P, Boelens, J, Schulz, A, Sedlacek, P, Veys, P, Mahlaoui, N, Janda, A, Davies, E, Fischer, A, Cowan, M, Gennery, A, Ferrua, Francesca, Galimberti, Stefania, Courteille, Virginie, Slatter, Mary Anne, Booth, Claire, Moshous, Despina, Neven, Benedicte, Blanche, Stephane, Laberko, Alexandra, Shcherbina, Anna, Balashov, Dmitry, Soncini, Elena, Porta, Fulvio, Al-Mousa, Hamoud, Al-Saud, Bandar, Al-Dhekri, Hasan, Arnaout, Rand, Formankova, Renata, Bertrand, Yves, Lange, Andrzej, Smart, Joanne, Wolska-Kusnierz, Beata, Aquino, Victor M, Dvorak, Christopher C, Fasth, Anders, Fouyssac, Fanny, Heilmann, Carsten, Hoenig, Manfred, Schuetz, Catharina, Kelečić, Jadranka, Bredius, Robbert G M, Lankester, Arjan C, Lindemans, Caroline A, Suarez, Felipe, Sullivan, Kathleen E, Albert, Michael H, Kałwak, Krzysztof, Barlogis, Vincent, Bhatia, Monica, Bordon, Victoria, Czogala, Wojciech, Alonso, Laura, Dogu, Figen, Gozdzik, Jolanta, Ikinciogullari, Aydan, Kriván, Gergely, Ljungman, Per, Meyts, Isabelle, Mustillo, Peter, Smith, Angela R, Speckmann, Carsten, Sundin, Mikael, Keogh, Steven John, Shaw, Peter John, Boelens, Jaap Jan, Schulz, Ansgar S, Sedlacek, Petr, Veys, Paul, Mahlaoui, Nizar, Janda, Ales, Davies, E Graham, Fischer, Alain, Cowan, Morton J, and Gennery, Andrew Richard

Abstract

Background: CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium species infections. Long-term survival with supportive therapy is poor. Currently, the only curative treatment is hematopoietic stem cell transplantation (HSCT). Objective: We performed an international collaborative study to improve patients' management, aiming to individualize risk factors and determine optimal HSCT characteristics. Methods: We retrospectively collected data on 130 patients who underwent HSCT for CD40L deficiency between 1993-2015. We analyzed outcome and variables' relevance with respect to survival and cure. Results: Overall survival (OS), event-free survival (EFS), and disease-free survival (DFS) were 78.2%, 58.1%, and 72.3% 5 years after HSCT. Results were better in transplantations performed in 2000 or later and in children less than 10 years old at the time of HSCT. Pre-existing organ damage negatively influenced outcome. Sclerosing cholangitis was the most important risk factor. After 2000, superior OS was achieved with matched donors. Use of myeloablative regimens and HSCT at 2 years or less from diagnosis associated with higher OS and DFS. EFS was best with matched sibling donors, myeloablative conditioning (MAC), and bone marrow–derived stem cells. Most rejections occurred after reduced-intensity or nonmyeloablative conditioning, which associated with poor donor cell engraftment. Mortality occurred mainly early after HSCT, predominantly from infections. Among survivors who ceased immunoglobulin replacement, T-lymphocyte chimerism was 50% or greater donor in 85.2%. Conclusion: HSCT is curative in patients with CD40L deficiency, with improved outcome if performed before organ damage development. MAC is associated with better OS, EFS, and DFS. Prospective studies are required to compare the risks of HSCT with those of lifelong supportive therapy.

Published
2019

211. People with low back pain want clear, consistent and personalised information on prognosis, treatment options and self-management strategies: a systematic review

Author

Lim, Y.Z., Chou, L., Au, R.T., Seneviwickrama, K.M.D., Cicuttini, F.M., Briggs, Andrew, Sullivan, K., Urquhart, D.M., Wluka, A.E., Lim, Y.Z., Chou, L., Au, R.T., Seneviwickrama, K.M.D., Cicuttini, F.M., Briggs, Andrew, Sullivan, K., Urquhart, D.M., and Wluka, A.E.

Abstract

Question: What health information needs are perceived by people with low back pain? Design: Systematic review of publications examining perceived health information needs related to low back pain identified through Medline, EMBASE, CINAHL and PsycINFO (1990 to 2018). Participants: Adults with low back pain of any duration. Data extraction and analysis: Two reviewers independently extracted descriptive data regarding study design and methodology, and assessed risk of bias. Aggregated findings of the perceived needs of people with low back pain regarding health information were meta-synthesised. Results: Forty-one studies (34 qualitative, four quantitative and three mixed-methods) were identified. Two major areas of perceived health information needs for low back pain emerged. The first major area was needs related to information content: general information related to low back pain, its cause and underlying pathology; strong desire for diagnosis and imaging; prognosis, future disability and effect on work capacity; precipitants and management of flares; general management approaches; self-management strategies; prevention; and support services. The second major area of needs related to how the information was delivered. People with low back pain wanted clear, consistent information delivered in suitable tone and understandable language. Conclusion: Available data suggest that the information needs of people with low back pain are centred around their desire for a diagnosis, potentially contributing to expectations for and overuse of imaging. People with low back pain expressed a strong desire for clear, consistent and personalised information on prognosis, treatment options and self-management strategies, related to healthcare and occupational issues. To correct unhelpful beliefs and optimise delivery of evidence-based therapy, patient and healthcare professional education (potentially by an integrated public health approach) may be warranted.

Published
2019

212. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Author

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B., Danis, D., Gourdine, J.P., Gargano, M., Harris, N.L., Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, Richard, Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A., Mungall, C., Robinson, P.N., Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B., Danis, D., Gourdine, J.P., Gargano, M., Harris, N.L., Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, Richard, Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A., Mungall, C., and Robinson, P.N.

Abstract

The Human Phenotype Ontology (HPO) - a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases - is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.

Published
2019

213. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Author

Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadalo, L., Aalfs, C. M., Agata, S., Aittomaki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmana, J., Barbieri, E., Bartram, C. R., Blanco, A., Blumcke, B., Bonache, S., Bonanni, B., Borg, A., Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldes, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, Paola, Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Debatin, I., Del Valle, J., Delnatte, C., Derive, N., Diez, O., Ditsch, N., Domchek, S. M., Dutrannoy, V., Eccles, D. M., Ehrencrona, H., Enders, U., Evans, D. G., Farra, C., Faust, U., Felbor, U., Feroce, I., Fine, M., Foulkes, W. D., Galvao, H. C. R., Gambino, G., Gehrig, A., Gensini, F., Gerdes, A. -M., Germani, A., Giesecke, J., Gismondi, V., Gomez, C., Gomez Garcia, E. B., Gonzalez, S., Grau, E., Grill, S., Gross, E., Guerrieri-Gonzaga, A., Guillaud-Bataille, M., Gutierrez-Enriquez, S., Haaf, T., Hackmann, K., Hansen, T. V. O., Harris, M., Hauke, J., Heinrich, T., Hellebrand, H., Herold, K. N., Honisch, E., Horvath, J., Houdayer, C., Hubbel, V., Iglesias, S., Izquierdo, A., James, P. A., Janssen, L. A. M., Jeschke, U., Kaulfuss, S., Keupp, K., Kiechle, M., Kolbl, A., Krieger, S., Kruse, T. A., Kvist, A., Lalloo, F., Larsen, M., Lattimore, V. L., Lautrup, C., Ledig, S., Leinert, E., Lewis, A. L., Lim, J., Loeffler, M., Lopez-Fernandez, A., Lucci Cordisco, Emanuela, Maass, N., Manoukian, S., Marabelli, M., Matricardi, L., Meindl, A., Michelli, R. D., Moghadasi, S., Moles-Fernandez, A., Montagna, M., Montalban, G., Monteiro, A. N., Montes, E., Mori, L., Moserle, L., Muller, C. R., Mundhenke, C., Naldi, N., Nathanson, K. L., Navarro, M., Nevanlinna, H., Nichols, C. B., Niederacher, D., Nielsen, H. R., Ong, K. -R., Pachter, N., Palmero, E. I., Papi, L., Pedersen, I. S., Peissel, B., Perez-Segura, P., Pfeifer, K., Pineda, M., Pohl-Rescigno, E., Poplawski, N. K., Porfirio, B., Quante, A. S., Ramser, J., Reis, R. M., Revillion, F., Rhiem, K., Riboli, B., Ritter, J., Rivera, D., Rofes, P., Rump, A., Salinas, M., Sanchez de Abajo, A. M., Schmidt, G., Schoenwiese, U., Seggewiss, J., Solanes, A., Steinemann, D., Stiller, M., Stoppa-Lyonnet, D., Sullivan, K. J., Susman, R., Sutter, C., Tavtigian, S. V., Teo, S. H., Teule, A., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tornero, E., Torngren, T., Torres-Esquius, S., Toss, A., Trainer, A. H., Tucker, K. M., van Asperen, C. J., van Mackelenbergh, M. T., Varesco, L., Vargas-Parra, G., Varon, R., Vega, A., Velasco, A., Vesper, A. -S., Viel, A., Vreeswijk, M. P. G., Wagner, S. A., Waha, A., Walker, L. C., Walters, R. J., Wang-Gohrke, S., Weber, B. H. F., Weichert, W., Wieland, K., Wiesmuller, L., Witzel, I., Wockel, A., Woodward, E. R., Zachariae, S., Zampiga, V., Zeder-Goss, C., Investigators, K., Lazaro, C., De Nicolo, A., Radice, P., Engel, C., Schmutzler, R. K., Goldgar, D. E., Spurdle, A. B., Concolino P., Lucci Cordisco E. (ORCID:0000-0002-6279-7604), Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadalo, L., Aalfs, C. M., Agata, S., Aittomaki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmana, J., Barbieri, E., Bartram, C. R., Blanco, A., Blumcke, B., Bonache, S., Bonanni, B., Borg, A., Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldes, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, Paola, Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Debatin, I., Del Valle, J., Delnatte, C., Derive, N., Diez, O., Ditsch, N., Domchek, S. M., Dutrannoy, V., Eccles, D. M., Ehrencrona, H., Enders, U., Evans, D. G., Farra, C., Faust, U., Felbor, U., Feroce, I., Fine, M., Foulkes, W. D., Galvao, H. C. R., Gambino, G., Gehrig, A., Gensini, F., Gerdes, A. -M., Germani, A., Giesecke, J., Gismondi, V., Gomez, C., Gomez Garcia, E. B., Gonzalez, S., Grau, E., Grill, S., Gross, E., Guerrieri-Gonzaga, A., Guillaud-Bataille, M., Gutierrez-Enriquez, S., Haaf, T., Hackmann, K., Hansen, T. V. O., Harris, M., Hauke, J., Heinrich, T., Hellebrand, H., Herold, K. N., Honisch, E., Horvath, J., Houdayer, C., Hubbel, V., Iglesias, S., Izquierdo, A., James, P. A., Janssen, L. A. M., Jeschke, U., Kaulfuss, S., Keupp, K., Kiechle, M., Kolbl, A., Krieger, S., Kruse, T. A., Kvist, A., Lalloo, F., Larsen, M., Lattimore, V. L., Lautrup, C., Ledig, S., Leinert, E., Lewis, A. L., Lim, J., Loeffler, M., Lopez-Fernandez, A., Lucci Cordisco, Emanuela, Maass, N., Manoukian, S., Marabelli, M., Matricardi, L., Meindl, A., Michelli, R. D., Moghadasi, S., Moles-Fernandez, A., Montagna, M., Montalban, G., Monteiro, A. N., Montes, E., Mori, L., Moserle, L., Muller, C. R., Mundhenke, C., Naldi, N., Nathanson, K. L., Navarro, M., Nevanlinna, H., Nichols, C. B., Niederacher, D., Nielsen, H. R., Ong, K. -R., Pachter, N., Palmero, E. I., Papi, L., Pedersen, I. S., Peissel, B., Perez-Segura, P., Pfeifer, K., Pineda, M., Pohl-Rescigno, E., Poplawski, N. K., Porfirio, B., Quante, A. S., Ramser, J., Reis, R. M., Revillion, F., Rhiem, K., Riboli, B., Ritter, J., Rivera, D., Rofes, P., Rump, A., Salinas, M., Sanchez de Abajo, A. M., Schmidt, G., Schoenwiese, U., Seggewiss, J., Solanes, A., Steinemann, D., Stiller, M., Stoppa-Lyonnet, D., Sullivan, K. J., Susman, R., Sutter, C., Tavtigian, S. V., Teo, S. H., Teule, A., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tornero, E., Torngren, T., Torres-Esquius, S., Toss, A., Trainer, A. H., Tucker, K. M., van Asperen, C. J., van Mackelenbergh, M. T., Varesco, L., Vargas-Parra, G., Varon, R., Vega, A., Velasco, A., Vesper, A. -S., Viel, A., Vreeswijk, M. P. G., Wagner, S. A., Waha, A., Walker, L. C., Walters, R. J., Wang-Gohrke, S., Weber, B. H. F., Weichert, W., Wieland, K., Wiesmuller, L., Witzel, I., Wockel, A., Woodward, E. R., Zachariae, S., Zampiga, V., Zeder-Goss, C., Investigators, K., Lazaro, C., De Nicolo, A., Radice, P., Engel, C., Schmutzler, R. K., Goldgar, D. E., Spurdle, A. B., Concolino P., and Lucci Cordisco E. (ORCID:0000-0002-6279-7604)

Abstract

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification.

Published
2019

223. Issues in the assessment of nutritional status using anthropometry

Author

Gorstein, J., Sullivan, K., Yip, R., de Onis, M., Trowbridge, F., Fajans, P., and Clugston, G.

Subjects
Nutrition surveys -- Methods, Anthropometry -- Research
Abstract

Four issues in the use and interpretation of anthropometry are discussed at the level of the populat and of the individual The first issue is the index or indices of choice: weight-for-height versus he versus weight-for-age. The selection of an index or indices depends upon many factors, and no one index is complately adequate in all situations. Proposed criteria are provided to assess the sev of low anthropometry within populations. The second issue is the scale of the index. z-scores (or st deviations) versus percentiles versus percent-of-median. z-Scores have several properties that make them superior to the other two scales. A third issue deals with limitations in the current grow reference; one of these is the disjunction between the growth curves at 2 years of age, resulting fr the use of two different populations in the reference. It is important that this disjunction be reco by researchers so that the anthropometric findings are interpreted correctly for this age range. Las some issues to do with the collection of single versus multiple anthropometric measurements on child are discussed., Introduction Anthropometry is widely used as a tool to estimate the nutritional status of populations and to monitor the growth and health of individuals. The three most frequently used anthropometric [...]

Published
1994

225. Phase I/II trial of autologous stem cell transplantation in systemic sclerosis: procedure related mortality and impact on skin disease

Author

Binks, M, Passweg, J R, Furst, D, McSweeney, P, Sullivan, K, Besenthal, C, Finke, J, Peter, H H, van Laar, J, Breedveld, F C, Fibbe, W E, Farge, D, Gluckman, E, Locatelli, F, Martini, A, van den Hoogen, F, van de Putte, L, Schattenberg, A V N, Arnold, R, Bacon, P A, Emery, P, Espigado, I, Hertenstein, B, Hiepe, F, Kashyap, A, Kötter, I, Marmont, A, Martinez, A, Pascual, M J, Gratwohl, A, Prentice, H G, Black, C, and Tyndall, A

Published
2001

227. A-139 Knowledge of Concussion is Determined by Concussion Education but not Prior Concussion or Participation in Contact Sport

Author

Kinmond S, Sullivan K, and Singaravelu Jaganathan K

Subjects
education.field_of_study, Demographics, Population, General Medicine, Computer-assisted web interviewing, Group comparison, medicine.disease, Contact sport, Psychiatry and Mental health, Clinical Psychology, Neuropsychology and Physiological Psychology, Concussion, medicine, Psychology, education, Data selection, Clinical psychology
Abstract

Objective In order to prevent concussion and promote help-seeking behaviour, this study sought to establish baseline concussion knowledge scores in the general population and to better understand the factors that influence variations in these scores. Data Selection Participants were (N = 223) individuals over the age of 18 years (M = 35.21, SD = 14.31) recruited from the general population via an online questionnaire. Designed to measure knowledge of concussion, the questionnaire contained demographics, grouping variables (previous concussion education, n = 74; history of concussion, n = 72; and participation in contact sport, n = 36), and 37-items from the Concussion Knowledge Index (CKI) of the Rosenbaum Concussion Knowledge and Attitudes Survey (RoCKAS). Results Concussion knowledge was higher than expected with 79.12% of participants responding correctly to CKI items. Group comparisons found individuals with prior concussion education to be significantly higher than individuals without U = 4382.50, z = −2.526, p = .01 (two-tailed), the effect was small r = .21. There was no difference in knowledge scores for gender, participants with a history of concussion or those who participate in contact sport. Conclusion When compared to similar studies sampling contact sports players, concussion knowledge was higher than expected. High-risk groups within the study (history of concussion and contact sport) were similarly informed than the general population. Further research is needed to understand whether higher knowledge translates to increased injury reporting and safer behaviour.

Published
2020
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228. A-141 An Inclusive Recruitment Strategy Can Help to Improve mTBI Research

Author

Mitchell G, Sullivan K, Greenslade J, Lyrstedt A, and Singaravelu Jaganathan K

Subjects
Persistence (psychology), Psychiatry and Mental health, Clinical Psychology, Neuropsychology and Physiological Psychology, Post-traumatic amnesia, medicine, General Medicine, Psychology, medicine.disease, Clinical psychology
Abstract

Objective Participant recruitment for mild traumatic brain injury (mTBI) research is challenging due to confounding factors and other documented selection biases. The strict application of typical inclusion and exclusion criteria has raised questions about the generalizability of mTBI research. This study explored the effect of applying commonly employed selection criteria on eligibility for mTBI research. Method Between July and October 2019, a trained research nurse performed a weekly review of a tertiary hospital emergency department treatment registry. Three hundred and eight cases coded as “minor head injury” were identified (Mage = 43.7, SDage = 25.6). The case records underwent formal data extraction. Extracted clinical and demographic data were mapped against commonly applied mTBI research selection parameters. The presence of persistent postconcussion symptoms (PPCS) was established via telephone administration of the Rivermead Postconcussion Symptom Questionnaire, 7–19 days post injury. Results Analysis revealed that 23% of patients met the World Health Organization operational definition of an mTBI. The failure to meet this criterion was primarily due to missing or incomplete information for post-traumatic amnesia. The application of exclusion criteria left just 5.5% of the initial pool eligible for mTBI research. Of these participants, ongoing PPCS could not be established in any individuals. Conclusion Participant recruitment for mTBI research could be improved by establishing a dedicated patient management system that streamlines and augments the quality of vital clinical data. An inclusive recruitment strategy that handles patient heterogeneity using statistical methods as opposed to exclusion from research could enhance the generalisability of mTBI research.

Published
2020
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229. A-125 An Analysis of the Traumatic Brain Injury Outcomes and Needs of People in Urban, Rural and Remote Areas

Author

Hennessy M and Sullivan K

Subjects
Gerontology, Rehabilitation, business.industry, Traumatic brain injury, medicine.medical_treatment, Outcome measures, General Medicine, medicine.disease, Mental health, Hospital records, Psychiatry and Mental health, Clinical Psychology, Neuropsychology and Physiological Psychology, Quality of life (healthcare), Medicine, business
Abstract

Objective Little is known about the traumatic brain injury (TBI) outcomes for people returning to urban versus rural communities. These communities typically differ in terms of the availability of formal and informal supports. We compared patient-reported TBI outcomes for three communities (urban, rural, and remote) and modelled their predictors. Method Six hundred and sixty-two cases with mild-to-severe TBI were identified from hospital records. These individuals received a mail-out survey comprised of standardized outcome measures. The measures assessed: symptoms, quality-of-life, service obstacles, unmet needs, mental health, and community integration. Ninety-one people who were less than two years post-injury returned a usable survey (18% response rate). The location of communities was coded using the Accessibility Remoteness Index of Australia (urban n = 22, rural n = 43, remote n = 26). Results There were no differences in the outcomes due to location (p’s > .05). The significant individual predictors of five of the six outcomes were the participant’s sex, age, and the injury severity; but location did not play a role. TBI outcomes were typically worse if the injury was severe, or if the injured person was older or female. For one outcome (community integration) males fared worse than females. Conclusion Contrary to expectations, location did not affect patient-reported TBI outcomes. This could indicate that the same supports are available to patients, despite their location or; that the different supports were relied on to achieve the same outcomes. The overall findings urge continued investment in TBI rehabilitation, particularly for the subgroups that experienced the worst outcomes.

Published
2020
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231. In silico prediction of DILI: extraction of histopathology data from preclinical toxicity studies of the eTOX database for new in silico models of hepatotoxicity

Author

Sullivan, K., Baker, N., Cochrane, S., Enoch, Steven J., Ezendam, Janine, Patlewicz, G., Roggen, Erwin L., Settivari, R., Sewald, Katherina, and Publica

Subjects
Regulatory policy, Chemical allergy, Respiratory sensitization, Nutrition
Abstract

Public health and regulatory needs require approaches to detect and discriminate respiratory sensitizers from dermal sensitizers; however no single method or strategy is generally accepted. An Adverse Outcome Pathway (AOP) for respiratory tract sensitization by low molecular weight organic chemicals has been published and is proceeding through the Organization for Economic Cooperation and Development review process. This AOP is a useful foundation for the development and assessment of in vitro and in silico test methods and combinations thereof within one or more Integrated Approaches to Testing and Assessment (IATA). The published AOP identified several promising approaches; however most of these have only been assessed with a few well-known respiratory sensitizers (e.g., toluene diisocyanate or trimellitic anhydride). To further evaluate the utility of these and other approaches, we have set out to build a more comprehensive list of reference chemicals, including known respiratory irritants, non-sensitizers, and dermal sensitizers. The ideal list of respiratory sensitizers should cover a range of chemical classes and include ""challenging"" chemicals, such as respiratory sensitizers thought to elicit effects through dermal exposure and those for which specific-IgE has not been detected in humans. To build the list, we are conducting a review of established structure-based profilers, recent literature, and human clinical reports, focusing on data verified in humans for translatability to human health outcomes. We are also making use of the Abstract Sifter literature review tool (Baker et al., (2007)) to identify additional potential respiratory sensitizers. Briefly, a set of PubMed MeSH terms describing adverse effects (AEs) for 92 known sensitizers was used to query a large database of chemicals and AEs, yielding over 7000 chemicals of potential interest. The top 500 ranked chemicals (based on article counts) are currently undergoing manual review. This reference chemical list is an important step towards the assessment of potential test methods and the creation of internationally-harmonized integrated approaches for the detection of chemical respiratory sensitizers. Does not necessarily represent US EPA policy.

Published
2018

232. SOCAT Quality Control Cookbook: for SOCAT version 7

Author

Lauvset, S., Currie, K., Metzl, N., Nakaoka, S., Bakker, D., Sullivan, K., Sutton, A., O’Brien, K., and Olsen, A.

Subjects
Physical oceanography, SOCAT, Quality control flags, Data quality control
Abstract

This is the SOCAT quality control (QC) cookbook for SOCAT version 7. It is an update to the cookbook for version 1 (Olsen and Metzl, 2009) and version 3 (Olsen et al., 2015; Wanninkhof et al., 2013). It incorporates the revision of the data set quality control flags for version 3 (Wanninkhof et al., 2013), quality control procedures defined for versions 1 and 2 (Pfeil et al., 2013; Bakker et al., 2014), recommendations from the SOCAT Community Event on 23 June 2014 (SOCAT, 2014), and updates as discussed at the SOCAT event at ICDC10 in September 2017. There is no intention to retrospectively implement the revised quality control criteria for data sets in SOCAT versions 1-6. Consistent quality control and the adequate quality control comments fully justifying all quality control steps are extremely important (SOCAT, 2014). Published Current 14.a N/A Multi-organisational Method Specification of criteria

Published
2018
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242. Tissue-engineered human bioartificial muscles expressing a foreign recombinant protein for gene therapy

Author

Powell, C, Shansky, J, Del Tatto, M, Forman, D. E, Hennessey, J, Sullivan, K, Zielinski, B. A, and Vandenburgh, H. H

Subjects
Life Sciences (General)
Abstract

Murine skeletal muscle cells transduced with foreign genes and tissue engineered in vitro into bioartificial muscles (BAMs) are capable of long-term delivery of soluble growth factors when implanted into syngeneic mice (Vandenburgh et al., 1996b). With the goal of developing a therapeutic cell-based protein delivery system for humans, similar genetic tissue-engineering techniques were designed for human skeletal muscle stem cells. Stem cell myoblasts were isolated, cloned, and expanded in vitro from biopsied healthy adult (mean age, 42 +/- 2 years), and elderly congestive heart failure patient (mean age, 76 +/- 1 years) skeletal muscle. Total cell yield varied widely between biopsies (50 to 672 per 100 mg of tissue, N = 10), but was not significantly different between the two patient groups. Percent myoblasts per biopsy (73 +/- 6%), number of myoblast doublings prior to senescence in vitro (37 +/- 2), and myoblast doubling time (27 +/- 1 hr) were also not significantly different between the two patient groups. Fusion kinetics of the myoblasts were similar for the two groups after 20-22 doublings (74 +/- 2% myoblast fusion) when the biopsy samples had been expanded to 1 to 2 billion muscle cells, a number acceptable for human gene therapy use. The myoblasts from the two groups could be equally transduced ex vivo with replication-deficient retroviral expression vectors to secrete 0.5 to 2 microg of a foreign protein (recombinant human growth hormone, rhGH)/10(6) cells/day, and tissue engineered into human BAMs containing parallel arrays of differentiated, postmitotic myofibers. This work suggests that autologous human skeletal myoblasts from a potential patient population can be isolated, genetically modified to secrete foreign proteins, and tissue engineered into implantable living protein secretory devices for therapeutic use.

Published
1999
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243. Unrelated and HLA-Nonidentical Related Donor Marrow Transplantation forThalassemia and Leukemia: A Combined Report from the Seattle Marrow Transplant Team and the International Bone Marrow Transplant Registrya

Author

SULLIVAN, K. M., ANASETTI, C., HOROWITZ, M., ROWLINGS, P. A., PETERSDORF, E. W., MARTIN, P. J., CLIFT, R. A., WALTERS, M. C., GOOLEY, T., SIERRA, J., ANDERSON, J. E., BJERKE, J., SIADAK, M., FLOWERS, M. E. D., NASH, R. A., SANDERS, J. E., APPELBAUM, F. R., STORB, R., and HANSEN, J. A.

Published
1998

246. Supportive Care of the Marrow Transplant Recipient: The Seattle Experience

Author

Sullivan, K. M., primary, Meyers, J., additional, Petersen, F. B., additional, Bowden, R., additional, Counts, G. C., additional, Banaji, M., additional, Schubert, M., additional, Clark, J., additional, Clift, R. A., additional, Appelbaum, F. R., additional, Bensinger, W. I., additional, Stewart, P., additional, Storb, R., additional, Thomas, E. D., additional, and Buckner, C. D., additional

Published
1990
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247. Marrow Grafting for Acute Leukemia: Results and Future Treatment Strategies

Author

Storb, R., primary, Buckner, C. D., additional, Clift, R. A., additional, Appelbaum, F. R., additional, Doney, K. C., additional, Martin, P., additional, Anasetti, C., additional, Hansen, J., additional, Sanders, J. E., additional, Petersen, F. B., additional, Sullivan, K. M., additional, Witherspoon, R. P., additional, and Thomas, E. D., additional

Published
1990
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249. Breastfeeding

Author

Ruiz, L, Sullivan, K, and Laurent, S

Published
1995

250. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Author

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B, Danis, D., Gourdine, J-P, Gargano, M., Harris, N.L, Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A, Mungall, C., Robinson, P.N., Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B, Danis, D., Gourdine, J-P, Gargano, M., Harris, N.L, Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A, Mungall, C., and Robinson, P.N.

Abstract

The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases—is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.

Published
2018

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