№ lp_1_2_41260
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The document is a research article presenting the validation of disease-specific health-related quality of life (HRQoL) measures for children with primary ciliary dyskinesia (PCD), demonstrating good internal consistency, test-retest reliability, and validity for multi-center clinical trials and routine care monitoring.
Year: 2018
Region / City: Southampton, UK; Chapel Hill, North Carolina, USA; Toronto, Ontario, Canada; Miami, Florida, USA; London, UK
Topic: Paediatric health-related quality of life instruments, Primary ciliary dyskinesia
Document Type: Research article
Author: Laura Behan, Margaret W Leigh, Sharon D Dell, Alexandra L Quittner, Claire Hogg, Jane S Lucas
Target Audience: Researchers, clinicians, healthcare professionals, and institutions involved in rare diseases and respiratory medicine
Period of Validity: N/A
Approval Date: N/A
Date of Changes: N/A
Price: 8 / 10 USD
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Primary ciliary dyskinesia in the genomics age
Year: 2026
Region / city: Southampton, UK; Chapel Hill, NC, USA; Muenster, Germany; Dundee, UK; London, UK
Topic: Primary ciliary dyskinesia, genetics, clinical research
Document type: Review article
Institution: University Hospital Southampton NHS Foundation Trust; University of Southampton; University of North Carolina School of Medicine; University Hospital Muenster; University of Dundee; Royal Brompton and Harefield NHS Trust
Authors: Jane S Lucas, Stephanie D. Davis, Heymut Omran, Amelia Shoemark
Correspondence: Jane Lucas, [email protected]
Funding: NIHR Southampton Biomedical Research Centre, NHS England, Genetic Disorders of Mucociliary Clearance Consortium, German Research Foundation, Horizon2020, COST Action BEAT-PCD
Key words: primary ciliary dyskinesia, cilia, diagnosis, genetic testing, treatment
Target audience: clinicians, researchers in genetics and pulmonology
Abstract word count: 5617
Ethics / conflicts of interest: disclosed financial and non-financial interests as reported by authors
Clinical relevance: respiratory disease, neonatal care, infertility, rare disease genetics
End date of coverage: current
High-speed video analysis in the diagnosis of primary ciliary dyskinesia: methodological clarification and discussion of diagnostic accuracy
Year: 2019
Subject: Primary ciliary dyskinesia diagnosis and diagnostic test accuracy
Document type: Scientific correspondence / research discussion
Authors: Jane S Lucas; Bruna Rubbo; Claire L Jackson; Robert A Hirst; Claire Hogg; Christopher O’Callaghan; Isabel C Reading; Amelia Shoemark
Institutions: University Hospital Southampton NHS Foundation Trust; University of Southampton Faculty of Medicine; University of Leicester; Royal Brompton Hospital; Imperial College London; UCL Great Ormond Street Institute of Child Health; University of Dundee
Country: United Kingdom
Field: Respiratory medicine; clinical diagnostics
Keywords: primary ciliary dyskinesia; diagnostic tests; high-speed video analysis; microscopy; nasal nitric oxide
Conflict of interest statement: All authors declared no conflicts of interest
Referenced guidelines: European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia; American Thoracic Society clinical practice guideline
Related methods discussed: high-speed video analysis (HSVA); nasal nitric oxide measurement; transmission electron microscopy; genetic testing; immunofluorescence testing
Primary ciliary dyskinesia in the genomics age
Year: 2026
Region / city: Southampton, UK; Chapel Hill, NC, USA; Muenster, Germany; Dundee, UK; London, UK
Topic: Primary ciliary dyskinesia, genetics, clinical research
Document type: Review article
Institution: University Hospital Southampton NHS Foundation Trust; University of Southampton; University of North Carolina School of Medicine; University Hospital Muenster; University of Dundee; Royal Brompton and Harefield NHS Trust
Authors: Jane S Lucas, Stephanie D. Davis, Heymut Omran, Amelia Shoemark
Correspondence: Jane Lucas, [email protected]
Funding: NIHR Southampton Biomedical Research Centre, NHS England, Genetic Disorders of Mucociliary Clearance Consortium, German Research Foundation, Horizon2020, COST Action BEAT-PCD
Key words: primary ciliary dyskinesia, cilia, diagnosis, genetic testing, treatment
Target audience: clinicians, researchers in genetics and pulmonology
Abstract word count: 5617
Ethics / conflicts of interest: disclosed financial and non-financial interests as reported by authors
Clinical relevance: respiratory disease, neonatal care, infertility, rare disease genetics
End date of coverage: current
High-speed video analysis in the diagnosis of primary ciliary dyskinesia: methodological clarification and discussion of diagnostic accuracy
Year: 2019
Subject: Primary ciliary dyskinesia diagnosis and diagnostic test accuracy
Document type: Scientific correspondence / research discussion
Authors: Jane S Lucas; Bruna Rubbo; Claire L Jackson; Robert A Hirst; Claire Hogg; Christopher O’Callaghan; Isabel C Reading; Amelia Shoemark
Institutions: University Hospital Southampton NHS Foundation Trust; University of Southampton Faculty of Medicine; University of Leicester; Royal Brompton Hospital; Imperial College London; UCL Great Ormond Street Institute of Child Health; University of Dundee
Country: United Kingdom
Field: Respiratory medicine; clinical diagnostics
Keywords: primary ciliary dyskinesia; diagnostic tests; high-speed video analysis; microscopy; nasal nitric oxide
Conflict of interest statement: All authors declared no conflicts of interest
Referenced guidelines: European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia; American Thoracic Society clinical practice guideline
Related methods discussed: high-speed video analysis (HSVA); nasal nitric oxide measurement; transmission electron microscopy; genetic testing; immunofluorescence testing
Topics: QOL-PCD ciliary dyskinesia