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3. Obesity in Pulmonary Arterial Hypertension. The Pulmonary Hypertension Association Registry

Author

Jeff Min, Rui Feng, David Badesch, Erika Berman-Rosenzweig, Charles Burger, Murali Chakinala, Teresa De Marco, Jeremy Feldman, Anna Hemnes, Evelyn M. Horn, Matthew R. Lammi, Stephen Mathai, John W. McConnell, Kenneth Presberg, Jeffrey Robinson, Jeffrey Sager, Oksana Shlobin, Marc Simon, Thenappan Thenappan, Corey Ventetuolo, Nadine Al-Naamani, Roblee Allen, Sonja Bartolome, Raymond Benza, Todd Bull, Linda Cadaret, Michael Eggert, Jean Elwing, Jeffrey Fineman, Raymond Foley, H. James Ford, Robert Frantz, Russel Hirsch, James Grinnan, D. Dunbar Ivy, Steven Kawut, Jamie Kennedy, James Klinger, Peter Leary, Sula Mazimba, Gautam Ramani, Amresh Raina, James Runo, John Swisher, John Ryan, Nidhy Varghese, R. James White, Timothy Williamson, Delphine Yung, Roham Zamanian, and Dianne Zwicke

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, medicine.disease, Obesity, Pulmonary hypertension, humanities, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, Quality of life, Internal medicine, Medicine, 030212 general & internal medicine, business, Survival analysis, Original Research
Abstract

Rationale: Obesity is associated with pulmonary arterial hypertension (PAH), but its impact on outcomes such as health-related quality of life (HRQoL), hospitalizations, and survival is not well understood. Objectives: To assess the effect of obesity on HRQoL, hospitalizations, and survival in patients with PAH. Methods: We performed a cohort study of adults with PAH from the Pulmonary Hypertension Association Registry, a prospective multicenter registry. Multivariate linear mixed-effects regression was used to examine the relationship between weight categories and HRQoL using the Short Form-12 and emPHasis-10. We used multivariable negative binomial regression to estimate hospitalization incidence rate ratios (IRRs) and Cox regression to estimate hazard ratios (HRs) for transplant-free survival by weight status. Results: A total of 767 subjects were included (mean age of 57 years, 74% female, 33% overweight, and 40% with obesity), with median follow-up duration of 527 days. Overweight patients and patients with obesity had higher baseline emPHasis-10 scores (worse HRQoL), which persisted over time (P

Published
2021
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4. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

Author

Emilia M. Swietlik, Daniel Greene, Na Zhu, Karyn Megy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A. Lutz, Carrie C.L. Welch, Michael W. Pauciulo, Laura Southgate, Jennifer M. Martin, Carmen M. Treacy, Christopher J. Penkett, Jonathan C. Stephens, Harm J. Bogaard, Colin Church, Gerry Coghlan, Anna W. Coleman, Robin Condliffe, Christina A. Eichstaedt, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Ekkehard Grünig, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, James M. Wild, Stephen John Wort, Allan Lawrie, Martin R. Wilkins, Richard C. Trembath, Yufeng Shen, Wendy K. Chung, Andrew J. Swift, William C. Nichols, Nicholas W. Morrell, Stefan Gräf, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David J. Allsup, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir Bariana, Julian Barwell, Joana Batista, Helen E. Baxendale, Phil L. Beales, David L. Bennett, Agnieszka Bierzynska, Tina Biss, Maria A.K. Bitner-Glindzicz, Graeme C. Black, Marta Bleda, Iulia Blesneac, Detlef Bockenhauer, Sara Boyce, John R. Bradley, Gerome Breen, Paul Brennan, Carole Brewer, Matthew Brown, Andrew C. Browning, Michael J. Browning, Rachel J. Buchan, Matthew S. Buckland, Teofila Bueser, Carmen Bugarin Diz, John Burn, Siobhan O. Burns, Oliver S. Burren, Nigel Burrows, Carolyn Campbell, Gerald Carr-White, Keren Carss, Ruth Casey, Mark J. Caulfield, Jenny Chambers, John Chambers, Melanie M.Y. Chan, Floria Cheng, Patrick F. Chinnery, Manali Chitre, Martin T. Christian, Jill Clayton-Smith, Maureen Cleary, Naomi Clements Brod, Elizabeth Colby, Trevor R.P. Cole, Janine Collins, Peter W. Collins, Cecilia J. Compton, H. Terence Cook, Stuart Cook, Nichola Cooper, Paul A. Corris, Nicola S. Curry, Matthew J. Daniels, Mehul Dattani, Louise C. Daugherty, John Davis, Anthony De Soyza, Sri V.V. Deevi, Timothy Dent, Charu Deshpande, Eleanor F. Dewhurst, Peter H. Dixon, Sofia Douzgou, Kate Downes, Anna M. Drazyk, Elizabeth Drewe, Daniel Duarte, Tina Dutt, J. David M. Edgar, Karen Edwards, William Egner, Melanie N. Ekani, Perry Elliott, Wendy N. Erber, Marie Erwood, Maria C. Estiu, Dafydd Gareth Evans, Gillian Evans, Tamara Everington, Hiva Fassihi, Remi Favier, Debra Fletcher, Frances A. Flinter, R. Andres Floto, Tom Fowler, James Fox, Amy J. Frary, Courtney E. French, Kathleen Freson, Mattia Frontini, Abigail Furnell, Daniel P. Gale, Vijeya Ganesan, Michael Gattens, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Kate Gibson, Kimberly C. Gilmour, Nicholas S. Gleadall, Sarah Goddard, Keith Gomez, Pavels Gordins, David Gosal, Jodie Graham, Luigi Grassi, Lynn Greenhalgh, Andreas Greinacher, Paolo Gresele, Philip Griffiths, Sofia Grigoriadou, Detelina Grozeva, Mark Gurnell, Scott Hackett, Charaka Hadinnapola, Rosie Hague, William M. Hague, Matthias Haimel, Matthew Hall, Helen L. Hanson, Eshika Haque, Kirsty Harkness, Andrew R. Harper, Claire L. Harris, Daniel Hart, Ahamad Hassan, Grant Hayman, Alex Henderson, Archana Herwadkar, Jonathan Hoffman, Rita Horvath, Henry Houlden, Arjan C. Houweling, Fengyuan Hu, Gavin Hudson, Aarnoud P. Huissoon, Matthew Hurles, Melita Irving, Louise Izatt, Roger James, Sally A. Johnson, Stephen Jolles, Jennifer Jolley, Dragana Josifova, Neringa Jurkute, Mary A. Kasanicki, Hanadi Kazkaz, Rashid Kazmi, Peter Kelleher, Anne M Kelly, Wilf Kelsall, Carly Kempster, Nathalie Kingston, Nils Koelling, Myrto Kostadima, Ania Koziell, Roman Kreuzhuber, Taco W. Kuijpers, Ajith Kumar, Dinakantha Kumararatne, Manju A. Kurian, Michael A. Laffan, Fiona Lalloo, Michele Lambert, Hana Lango Allen, D. Mark Layton, Claire Lentaigne, Tracy Lester, Adam P. Levine, Rachel Linger, Hilary Longhurst, Lorena E. Lorenzo, Eleni Louka, Paul A. Lyons, Bella Madan, Eamonn R. Maher, Jesmeen Maimaris, Samantha Malka, Sarah Mangles, Rutendo Mapeta, Kevin J. Marchbank, Stephen Marks, Hugh S. Markus, Hanns-Ulrich Marschall, Andrew Marshall, Mary Mathias, Emma Matthews, Heather Maxwell, Paul McAlinden, Mark I. McCarthy, Harriet McKinney, Stuart Meacham, Adam J. Mead, Sarju G. Mehta, Michel Michaelides, Carolyn Millar, Shehla N. Mohammed, Anthony T. Moore, Monika Mozere, Keith W. Muir, Andrew D. Mumford, Andrea H. Nemeth, William G. Newman, Michael Newnham, Sadia Noorani, Paquita Nurden, Jennifer O’Sullivan, Samya Obaji, Chris Odhams, Steven Okoli, Andrea Olschewski, Kai Ren Ong, S. Helen Oram, Elizabeth Ormondroyd, Willem H. Ouwehand, Claire Palles, Sofia Papadia, Soo-Mi Park, David Parry, Smita Patel, Joan Paterson, Andrew Peacock, Simon H. Pearce, Kathelijne Peerlinck, Romina Petersen, Clarissa Pilkington, Kenneth E.S. Poole, Bethan Psaila, Angela Pyle, Richard Quinton, Shamima Rahman, Anupama Rao, F. Lucy Raymond, Paula J. Rayner-Matthews, Augusto Rendon, Tara Renton, Andrew S.C. Rice, Alex Richter, Leema Robert, Irene Roberts, Sarah J. Rose, Robert Ross-Russell, Catherine Roughley, Noemi B.A. Roy, Deborah M. Ruddy, Omid Sadeghi-Alavijeh, Moin A. Saleem, Nilesh Samani, Crina Samarghitean, Alba Sanchis-Juan, Ravishankar B. Sargur, Robert N. Sarkany, Simon Satchell, Sinisa Savic, Genevieve Sayer, John A. Sayer, Laura Scelsi, Andrew M. Schaefer, Sol Schulman, Richard Scott, Marie Scully, Claire Searle, Arjune Sen, W.A. Carrock Sewell, Denis Seyres, Neil Shah, Olga Shamardina, Susan E. Shapiro, Adam C. Shaw, Keith Sibson, Lucy Side, Ilenia Simeoni, Michael A. Simpson, Matthew C. Sims, Suthesh Sivapalaratnam, Damian Smedley, Katherine R. Smith, Kenneth G.C. Smith, Katie Snape, Nicole Soranzo, Olivera Spasic-Boskovic, Simon Staines, Emily Staples, Hannah Stark, Kathleen E. Stirrups, Alex Stuckey, Petros Syrris, R. Campbell Tait, Kate Talks, Rhea Y.Y. Tan, Jenny C. Taylor, John M. Taylor, James E. Thaventhiran, Andreas C. Themistocleous, David Thomas, Ellen Thomas, Moira J. Thomas, Patrick Thomas, Kate Thomson, Adrian J. Thrasher, Chantal Thys, Marc Tischkowitz, Catherine Titterton, Cheng-Hock Toh, Ian P. Tomlinson, Matthew Traylor, Paul Treadaway, Salih Tuna, Ernest Turro, Philip Twiss, Tom Vale, Chris Van Geet, Natalie van Zuydam, Anthony M Vandersteen, Marta Vazquez-Lopez, Julie von Ziegenweidt, Annette Wagner, Quinten Waisfisz, Neil Walker, Suellen M. Walker, James S. Ware, Hugh Watkins, Christopher Watt, Andrew R. Webster, Lucy Wedderburn, Wei Wei, Steven B. Welch, Julie Wessels, Sarah K. Westbury, John-Paul Westwood, Deborah Whitehorn, James Whitworth, Andrew O.M. Wilkie, Catherine Williamson, Brian T. Wilson, Edwin K.S. Wong, Nicholas Wood, Yvette Wood, Christopher Geoffrey Woods, Emma R. Woodward, Austen Worth, Michael Wright, Katherine Yates, Patrick F.K. Yong, Timothy Young, Ping Yu, Patrick Yu-Wai-Man, Eliska Zlamalova, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati, University of Cambridge [UK] (CAM), Columbia University [New York], University of Sheffield [Sheffield], University of Cincinnati (UC), St George's, University of London, Vrije Universiteit Amsterdam [Amsterdam] (VU), Golden Jubilee National Hospital, Glasgow, Royal Free Hospital [London, UK], Heidelberg University Hospital [Heidelberg], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Technische Hochschule Mittelhessen - University of Applied Sciences [Giessen] (THM), Fondazione IRCCS Policlinico San Matteo, Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Universität Heidelberg [Heidelberg], Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Imperial College London, Royal Hallamshire Hospital, University of Graz, Freeman Hospital, Royal United Hospitals Bath (RUH), Great Ormond Street Hospital for Children [London] (GOSH), Royal Papworth Hospital, Cambridge Biomedical Campus, Cambridge, United Kingdom., King‘s College London, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität [Graz, Autriche], Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Swietlik, Emilia [0000-0002-4095-8489], Megy, Karyn [0000-0002-2826-3879], Tilly, Tobias [0000-0002-6762-5342], Stephens, Jonathan [0000-0003-2020-9330], Toshner, Mark [0000-0002-3969-6143], Morrell, Nicholas [0000-0001-5700-9792], Graf, Stefan [0000-0002-1315-8873], Apollo - University of Cambridge Repository, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität Graz, HAL-SU, Gestionnaire, British Heart Foundation, and The Academy of Medical Sciences

Subjects
0301 basic medicine, Candidate gene, Cardiac & Cardiovascular Systems, genetic association studies, 030204 cardiovascular system & hematology, Biology, Bayesian inference, 03 medical and health sciences, 0302 clinical medicine, Missing heritability problem, pulmonary hypertension, medicine, Family history, Gene, Genetics & Heredity, Genetics, family history, Science & Technology, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Kinase insert domain receptor, computed tomography, General Medicine, Original Articles, medicine.disease, Pulmonary hypertension, Phenotype, 3. Good health, 030104 developmental biology, Cardiovascular System & Cardiology, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Life Sciences & Biomedicine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, vascular endothelial growth factor receptor
Abstract

Supplemental Digital Content is available in the text., Background: Approximately 25% of patients with pulmonary arterial hypertension (PAH) have been found to harbor rare mutations in disease-causing genes. To identify missing heritability in PAH, we integrated deep phenotyping with whole-genome sequencing data using Bayesian statistics. Methods: We analyzed 13 037 participants enrolled in the NBR study (NIHR BioResource—Rare Diseases), of which 1148 were recruited to the PAH domain. To test for genetic associations between genes and selected phenotypes of pulmonary hypertension, we used the Bayesian rare variant association method BeviMed. Results: Heterozygous, high impact, likely loss-of-function variants in the kinase insert domain receptor (KDR) gene were strongly associated with significantly reduced transfer coefficient for carbon monoxide (posterior probability=0.989) and older age at diagnosis (posterior probability=0.912). We also provide evidence for familial segregation of a rare nonsense KDR variant with these phenotypes. On computed tomographic imaging of the lungs, a range of parenchymal abnormalities were observed in the 5 patients harboring these predicted deleterious variants in KDR. Four additional PAH cases with rare likely loss-of-function variants in KDR were independently identified in the US PAH Biobank cohort with similar phenotypic characteristics. Conclusions: The Bayesian inference approach allowed us to independently validate KDR, which encodes for the VEGFR2 (vascular endothelial growth factor receptor 2), as a novel PAH candidate gene. Furthermore, this approach specifically associated high impact likely loss-of-function variants in the genetically constrained gene with distinct phenotypes. These findings provide evidence for KDR being a clinically actionable PAH gene and further support the central role of the vascular endothelium in the pathobiology of PAH.

Published
2020
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5. Prediction of Health-related Quality of Life and Hospitalization in Pulmonary Arterial Hypertension: The Pulmonary Hypertension Association Registry

Author

Jeff Min, David Badesch, Murali Chakinala, Jean Elwing, Robert Frantz, Evelyn Horn, James Klinger, Matthew Lammi, Sula Mazimba, Jeffrey Sager, Oksana Shlobin, Marc Simon, Thenappan Thenappan, Daniel Grinnan, Corey Ventetuolo, Nadine Al-Naamani, Abhijit Raval, Amresh Raina, Anna Hemnes, Charles Burger, D. Dunbar Ivy, Delphine Yung, Dianne Zwicke, Erika Berman-Rosenzweig, Gautam Ramani, Granthem Farr, H. James Ford, James Runo, Jeffrey Fineman, Jeremy Feldman, John Swisher, John Ryan, John Wesley McConnell, Kenneth Presberg, Kishan Parikh, Linda Cadaret, Mark Avdalovic, Michael Duncan, Michael Eggert, Nidhy Varghese, Paul Boyce, Peter Leary, Raymond Foley, R. James White, Roham Zamanian, Russel Hirsch, Sahil Bakshi, Sonja Bartolome, Steven Kawut, Stephen Mathai, Teresa De Marco, Timothy Williamson, and Todd Bull

Subjects
Pulmonary and Respiratory Medicine, Adult, Male, medicine.medical_specialty, MEDLINE, Critical Care and Intensive Care Medicine, Risk Assessment, Quality of life (healthcare), Correspondence, medicine, Humans, Registries, Aged, Health related quality of life, Aged, 80 and over, Pulmonary Arterial Hypertension, business.industry, Middle Aged, medicine.disease, Pulmonary hypertension, United States, Hospitalization, Emergency medicine, Risk stratification, Quality of Life, Female, business, Forecasting
Published
2020

7. Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Author

Darcy A. Krueger, Hope Northrup, Steven Roberds, Katie Smith, Julian Sampson, Bruce Korf, David J. Kwiatkowski, David Mowat, Mark Nellist, Sue Povey, Petrus de Vries, Anna Byars, David Dunn, Kevin Ess, Dena Hook, Anna Jansen, Bryan King, Mustafa Sahin, Vicky Whittemore, Elizabeth Thiele, E. Martina Bebin, Harry T. Chugani, Peter Crino, Paolo Curatolo, Greg Holmes, Rima Nabbout, Finbar O'Callaghan, James Wheless, Joyce Wu, Thomas N. Darling, Edward W. Cowen, Elizabeth Gosnell, Adelaide Hebert, Greg Mlynarczyk, Keyomaurs Soltani, Joyce Teng, Mari Wataya-Kaneda, Patricia M. Witman, Chris Kingswood, John Bissler, Klemens Budde, John Hulbert, Lisa Guay-Woodford, Matthias Sauter, Bernard Zonneberg, Sergiusz Jóźwiak, Ute Bartels, Moncef Berhouma, David Neal Franz, Mary Kay Koenig, E. Steve Roach, Jonathan Roth, Henry Wang, Howard Weiner, Francis X. McCormack, Khalid Almoosa, Alan Brody, Charles Burger, Vincent Cottin, Geraldine Finlay, Jennifer Glass, Elizabeth Petri Henske, Simon Johnson, Robert Kotloff, David Lynch, Joel Moss, Karen Smith, Jay Rhu, Angelo Taveira Da Silva, Lisa R. Young, Timothy Knilans, Robert Hinton, Ashwin Prakash, Robb Romp, Arun D. Singh, Ashish DebRoy, Pei-Lung Chen, Steven Sparagana, and Michael D. Frost

Subjects
medicine.medical_specialty, Internationality, Clinical Neurology, tuberous sclerosis, Disease, Subspecialty, Scientific evidence, Tuberous sclerosis, Developmental Neuroscience, medicine, Humans, Pediatrics, Perinatology, and Child Health, treatment, Subependymal giant cell astrocytoma, business.industry, Genetic disorder, Consensus conference, Disease Management, food and beverages, Guideline, medicine.disease, Neurology, Population Surveillance, Family medicine, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, surveillance, Physical therapy, Neurology (clinical), business, guideline, management
Abstract

BackgroundTuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. Current surveillance and management practices are highly variable among region and country, reflective of the fact that last consensus recommendations occurred in 1998 and an updated, comprehensive standard is lacking that incorporates the latest scientific evidence and current best clinical practices.MethodsThe 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 separate subcommittees, each led by a clinician with advanced expertise in tuberous sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease area with important clinical management implications and was charged with formulating key clinical questions to address within its focus area, reviewing relevant literature, evaluating the strength of data, and providing a recommendation accordingly.ResultsThe updated consensus recommendations for clinical surveillance and management in tuberous sclerosis complex are summarized here. The recommendations are relevant to the entire lifespan of the patient, from infancy to adulthood, including both individuals where the diagnosis is newly made as well as individuals where the diagnosis already is established.ConclusionsThe 2012 International Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex.

Published
2013
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8. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Author

Hope Northrup, Darcy A. Krueger, Steven Roberds, Katie Smith, Julian Sampson, Bruce Korf, David J. Kwiatkowski, David Mowat, Mark Nellist, Sue Povey, Petrus de Vries, Anna Byars, David Dunn, Kevin Ess, Dena Hook, Anna Jansen, Bryan King, Mustafa Sahin, Vicky Whittemore, Elizabeth Thiele, E. Martina Bebin, Harry T. Chugani, Peter Crino, Paolo Curatolo, Greg Holmes, Rima Nabbout, Finbar O'Callaghan, James Wheless, Joyce Wu, Thomas N. Darling, Edward W. Cowen, Elizabeth Gosnell, Adelaide Hebert, Greg Mlynarczyk, Keyomaurs Soltani, Joyce Teng, Mari Wataya-Kaneda, Patricia M. Witman, Chris Kingswood, John Bissler, Klemens Budde, John Hulbert, Lisa Guay-Woodford, Matthias Sauter, Bernard Zonneberg, Sergiusz Jóźwiak, Ute Bartels, Moncef Berhouma, David Neal Franz, Mary Kay Koenig, E. Steve Roach, Jonathan Roth, Henry Wang, Howard Weiner, Francis X. McCormack, Khalid Almoosa, Alan Brody, Charles Burger, Vincent Cottin, Geraldine Finlay, Jennifer Glass, Elizabeth Petri Henske, Simon Johnson, Robert Kotloff, David Lynch, Joel Moss, Karen Smith, Jay Rhu, Angelo Taveira Da Silva, Lisa R. Young, Timothy Knilans, Robert Hinton, Ashwin Prakash, Robb Romp, Arun D. Singh, Ashish DebRoy, Pei-Lung Chen, Steven Sparagana, and Michael D. Frost

Subjects
medicine.medical_specialty, clinical features, Clinical Neurology, Disease, Subspecialty, Diagnosis, Differential, Tuberous sclerosis, Developmental Neuroscience, Tuberous Sclerosis, medicine, Humans, Genetic Testing, Pediatrics, Perinatology, and Child Health, Intensive care medicine, Genetic testing, Subependymal giant cell astrocytoma, medicine.diagnostic_test, business.industry, food and beverages, medicine.disease, medicine.anatomical_structure, Neurology, diagnostic criteria, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Physical therapy, Neurology (clinical), TSC1, Differential diagnosis, TSC2, business
Abstract

BACKGROUND: Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Although significant advances have been made in the past 15 years in the understanding and treatment of tuberous sclerosis complex, current clinical diagnostic criteria have not been critically evaluated or updated since the last clinical consensus conference in 1998. METHODS: The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 subcommittees, each led by a clinician with advanced expertise in tuberous sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease area with important diagnostic implications and was charged with reviewing prevalence and specificity of diseaseassociated clinical findings and their impact on suspecting and confirming the diagnosis of tuberous sclerosis complex. RESULTS: Clinical features of tuberous sclerosis complex continue to be a principal means of diagnosis. Key changes compared with 1998 criteria are the new inclusion of genetic testing results and reducing diagnostic classes from three (possible, probable, and definite) to two (possible, definite). Additional minor changes to specific criterion were made for additional clarification and simplification. CONCLUSIONS: The 2012 International Tuberous Sclerosis Complex Diagnostic Criteria provide current, updated means using best available evidence to establish diagnosis of tuberous sclerosis complex in affected individuals.

Published
2013
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9. The Use of Problem-Knowledge Couplers in a Primary Care Practice

Author

Charles Burger

Subjects
medicine.medical_specialty, Medical education, Computer science, Medical record, Alternative medicine, medicine, General Medicine, Primary care, Clinical Medicine, Clinical decision
Abstract

In the Summer 2009 issue of The Permanente Journal, Lawrence Weed, MD,1 outlined the philosophy behind the development of the problem-oriented medical record and the subsequent development of the clinical decision tool called problem knowledge couplers. In this article, I describe how my associates and I have integrated the use of problem knowledge couplers into our Internal Medicine practice.

Published
2010
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10. Survey of restless legs syndrome in a pulmonary hypertension population

Author

Kamonpun, Ussavarungsi, Joseph, Kaplan, Charles, Burger, and Vichaya, Arunthari

Subjects
Adult, Male, Cross-Sectional Studies, Risk Factors, Hypertension, Pulmonary, Restless Legs Syndrome, Surveys and Questionnaires, Prevalence, Humans, Female, Middle Aged, Severity of Illness Index, Body Mass Index
Abstract

The prevalence of restless legs syndrome (RLS) varies from 5% to 24% in the general population and is associated with a variety of medical disorders. However, the association between RLS and pulmonary hypertension (PH) is unknown.To determine the prevalence of RLS in PH patients.A cross-sectional questionnaire was given to patients with PH who attended the Pulmonary Hypertension Association conference. We used the RLS Diagnostic Index questionnaire. Demographic data included age, gender, height, weight, body mass index (BMI), medication list, PH World Health Organization (WHO) diagnosis group and current WHO functional class.The study included 128 PH patients. Most were females (86.8%) with a mean age of 49.68 years [standard deviation (SD) 14.24]. The mean BMI was 31.3 (SD 20.46). One hundred and twenty-one patients (93.75%) were classified as WHO group 1 (pulmonary arterial hypertension). Three patients were identified in WHO group 3 (hypoxemic states), four patients in group 4 (chronic thromboemboli) and one patient in group 5 (2.3%, 3.1% and 0.8%, respectively). Definite RLS was found in 16 of 128 patients with PH resulting in a prevalence of 12.5%, possible RLS in 39 of 128 patients (30.46%) and no RLS in 73 (57.03%) patients.The prevalence of RLS is not increased in PH. There is a high prevalence of possible RLS in our study. The overall prevalence of combined definite and possible RLS is significant. Future research is needed to assess more patients with PH and the association or correlation with RLS.

Published
2013

11. Expert Consensus on the Prescribing Practice and Management of Adverse Events Associated With the Treatment of Patients Taking Macitentan for PAH: A Delphi Consensus Study

Author

Hassan Alnuaimat, C. Gregory Cauthen, Namita Sood, Rana Awdish, J. Wesley McConnell, Peter Engel, Myung Park, John Butler, Vijay Balasubramanian, Harold Palevsky, Michael Eggert, Robert Bourge, Jeremy Feldman, Bennett deBoisblanc, Murali M. Chakinala, J.S. Sager, Franck Rahaghi, and Charles Burger

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Expert consensus, Critical Care and Intensive Care Medicine, chemistry.chemical_compound, chemistry, Family medicine, medicine, Cardiology and Cardiovascular Medicine, Adverse effect, business, computer, Delphi, Macitentan, computer.programming_language
Published
2016
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14. Playground Designs and Preschool Children's Behaviors

Author

James G. Brown and Charles Burger

Subjects
Engineering, business.industry, 0502 economics and business, 05 social sciences, 050109 social psychology, 0501 psychology and cognitive sciences, business, 050212 sport, leisure & tourism, General Environmental Science, Developmental psychology
Abstract

What should playgrounds for young children be like? Do those design suggestions that have appeared in the contemporary literature make a difference? What design factors seem to influence preschool children's behaviors on playgrounds? These questions are addressed by an analysis of recent research and design suggestions, and an observational study of preschool children's free play in six outdoor playgrounds. Results indicated that on the whole, playgrounds with more contemporary designs did not necessarily promote greater amounts of educationally desirable social, language, or motor behaviors. There were differences in children's behaviors on various playgrounds, but not strictly according to the extent to which they reflected contemporary design suggestions. The most important design characteristics seemed to be: (1) zoning, (2) encapsulation, and (3) the provision of appropriate materials (vehicles appeared to be extremely valuable).

Published
1984
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