Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Philip Chetcuti"'
Autor:
Helen Yates, Virginia Chiocchia, Louise Linsell, Nicolas Orsi, Edmund Juszczak, Kathryn Johnson, Philip Chetcuti, Claire Illingworth, Pollyanna Hardy, Vaneesha Monk, Simon Newell, Mark Turner
Publikováno v:
Efficacy and Mechanism Evaluation, Vol 6, Iss 8 (2019)
Background: Postnatal corticosteroids are used to improve lung function and reduce the incidence of bronchopulmonary dysplasia (BPD) in preterm babies. However, corticosteroids may be associated with adverse neurodevelopment. Despite a lack of eviden
Externí odkaz:
https://doaj.org/article/80dcbe90bab6437baa8302e3b8bd61f6
Autor:
Sinisa Savic, James A. Poulter, Andrew J. Cant, Eamonn Sheridan, Helen Griffin, Dylan Lawless, Sophie Hambleton, Neil V. Morgan, Stefan Przyborski, Siti Mardhiana Mohamad, Rashida Anwar, Jennifer Shrimpton, Clive Carter, Gina M. Doody, Karin R. Engelhardt, Kevin Windebank, Meghan Acres, Catherine Cargo, Stephan Ehl, Frédéric Rieux-Laucat, Chris M. Bacon, Sean O’Riordan, Anne Rensing-Ehl, Jarmila Stremenova Spegarova, Majlinda Lako, Philip Chetcuti, Aneta Mikulasova
Publikováno v:
Blood. 136:1055-1066
Molecular dissection of inborn errors of immunity can help to elucidate the nonredundant functions of individual genes. We studied 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, d
Publikováno v:
Journal of Paediatrics and Child Health. 58:526-528
Autor:
Manjith Narayanan, Christopher O'Callaghan, Woolf T. Walker, Siobhán B. Carr, Robert A. Hirst, Priti Kenia, Philip Chetcuti, Jane S. Lucas, Michael Williamson, Sunayna Best, Patricia Goggin, Amelia Shoemark, Bruna Rubbo, Eduardo Moya, Claire Hogg
ObjectiveIn England, the National Health Service commissioned a National Management Service for children with primary ciliary dyskinesia (PCD). The aims of this study were to describe the health of children seen in this Service and compare lung funct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::390e01ec859077b54f9c110c9da4e437
https://eprints.soton.ac.uk/437842/
https://eprints.soton.ac.uk/437842/
Publikováno v:
Pediatric Pulmonology. 53:1442-1446
AIM To report the natural history of a cohort of children with prenatally diagnosed congenital lung malformations (CLM) which we set out to manage expectantly. METHODS Retrospective review of children born between 1995 and 2013 with a CLM identified
Publikováno v:
Journal of Clinical Sleep Medicine. 13:1359-1362
Pathogenic variants in Paired-Like Homeobox 2B (PHOX2B) gene cause congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by absent or reduced venti...
Autor:
Amanda Friend, Hannah Wilkins, Victoria Bright, Rajinder Kang, Fiona Copeland, Woolf T. Walker, Laura Bayton, Christopher O'Callaghan, Alison Truscott, Kenia Priti, Bruna Rubbo, Eduardo Moya, Charlotte Kewell, Manjith Narayanan, Amanda Harris, Corine Driessens, Clare Hogg, Siobhán B. Carr, Philip Chetcuti, Katy Waller, Gemma Marsh, Samantha Packham, Jane S. Lucas
Publikováno v:
Paediatric respiratory epidemiology.
Background: To review children and their family’s experiences of PCD care provided by the 4 specialist teams commissioned to deliver PCD care in England, and establish if the current service meets their needs. Methods: Satisfaction surveys were dev
Autor:
Mahmoud R. Fassad, Andreia Pitno, Heba Morsy, Luísa Pereira, Carolina Constant, Nader Fasseeh, James A. Thompson, Paul Aurora, Claire L. Jackson, Andrew Rutman, Nisreen Rumman, Walaa I. Shoman, Robert A. Hirst, Amelia Shoemark, Susana S. Lopes, Hannah M. Mitchison, Christopher M. Watson, Priti Kenia, C. Hogg, Eduardo Moya, Jane S. Lucas, Christopher O'Callaghan, Lucy Jenkins, Robert Wilson, Sarah Ollosson, Patricia Goggin, Siobhán B. Carr, Mellisa Dixon, Philip Chetcuti, Michael R. Loebinger, Jane Hayward, Woolf T. Walker, Deborah J. Morris-Rosendahl, Andrew V. Rogers, Thomas Cullup, Mitali P. Patel, Eddie M.K. Chung
Publikováno v:
Journal of medical genetics. 57(5)
BackgroundPrimary ciliary dyskinesia (PCD), a genetically heterogeneous condition enriched in some consanguineous populations, results from recessive mutations affecting cilia biogenesis and motility. Currently, diagnosis requires multiple expert tes
Autor:
Michael Williamson, Manjith Narayanan, Sunayna Best, Siobhán B. Carr, Priti Kenia, Claire Hogg, Robert A. Hirst, Bruna Rubbo, Florian Gahleitner, Eduardo Moya, Christopher O'Callaghan, Philip Chetcuti, Woolf T. Walker, Jane S. Lucas
Publikováno v:
Paediatric respiratory epidemiology.
Introduction: Primary ciliary dyskinesia (PCD) is a rare condition where impaired mucociliary clearance leads to recurrent sinopulmonary infection & bronchiectasis. A National Children9s PCD management service was commissioned in England in 2012 acro
Autor:
Tom Kenny, Fiona Copeland, Christopher O'Callaghan, Eduardo Moya, Woolf T. Walker, Philip Chetcuti, Jane S. Lucas, Claire Hogg
Publikováno v:
Paediatric Respiratory Reviews. 15:142-145
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease associated with bronchiectasis, chronic rhinosinusitis, infertility and situs inversus. Estimates of prevalence vary widely, but is probably between 1:10,000- 1:40,000 in most populat