scholarly journals Respiratory symptoms of Swiss people with Primary Ciliary Dyskinesia

2021 ◽  
Author(s):  
Myrofora Goutaki ◽  
Leonie Huesler ◽  
Yin Ting Lam ◽  
Helena M Koppe ◽  
Andreas Jung ◽  
...  
Keyword(s):  
Clinical Data ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Symptoms ◽  
Phenotypic Variability ◽  
Shortness Of Breath ◽  
Runny Nose ◽  
Nasal Symptoms ◽  
Patient Reported ◽  
Almost All ◽  
Ciliary Dyskinesia

Background: Mostly derived from chart reviews, where symptoms are recorded in a nonstandardised manner, clinical data about primary ciliary dyskinesia (PCD) are inconsistent, which leads to missing and unreliable information. We assessed the prevalence and frequency of respiratory symptoms and studied differences by age and sex among an unselected population of Swiss people with PCD. Methods: We sent a questionnaire that included items from the FOLLOW–PCD standardised questionnaire to all Swiss PCD registry participants. Results: We received questionnaires from 74 out of 86 (86%) invited persons or their caregivers (age range: 3–73 years; median age: 23), including 68% adults (≥18 years) and 51% females. Among participants, 70 (94%) reported chronic nasal symptoms, most frequently runny nose (65%), blocked nose (55%), or anosmia (38%). Ear pain and hearing problems were reported by 58% of the participants. Almost all (99%) reported cough and sputum production. The most common chronic cough complications were gastroesophageal reflux (n=11; 15%), vomiting (n=8; 11%), and urinary incontinence (n=6; 8%). Only 9 participants (12%) reported frequent wheeze, which occurred mainly during infection or exercise, while 49 persons (66%) reported shortness of breath; 9% even at rest or during daily activities. Older patients reported more frequent nasal symptoms and shortness of breath. We found no difference by sex or ultrastructural ciliary defect. Conclusion: This is the first study that describes patient–reported PCD symptoms. The consistent collection of standardised clinical data will allow us to better characterise the phenotypic variability of the disease and study disease course and prognosis.

scholarly journals Facemask usage during the COVID-19 pandemic among people with primary ciliary dyskinesia: a participatory project

2021 ◽  
Author(s):  
Eva SL Pedersen ◽  
Eugenie NR Collaud ◽  
Rebeca Mozun ◽  
Katie Dexter ◽  
Catherine Kruljac ◽  
...  
Keyword(s):  
Public Transport ◽  
Primary Ciliary Dyskinesia ◽  
International Study ◽  
Chronic Respiratory Disease ◽  
Online Questionnaire ◽  
Public Places ◽  
Runny Nose ◽  
Difficulty Breathing ◽  
Almost All ◽  
Ciliary Dyskinesia

AbstractBackgroundFacemasks help prevent transmission of SARS-CoV-2 and are particularly important for people with chronic respiratory disease such as primary ciliary dyskinesia (PCD). We studied the usage of facemasks and its consequences among people with PCD in an international context.MethodsWe used data from COVID-PCD, an international observational cohort study which collects longitudinal data from people with PCD during the COVID-19 pandemic via weekly online questionnaires. An online questionnaire investigating use of facemasks was posted in October 2020. It asked about frequency of facemask usage in different public places, problems experienced with use of facemasks, affordability of masks, and beliefs regarding their effectiveness.Results282 participants (50%) completed the questionnaire. Participants came from 27 different countries; median age was 32 years (interquartile range 17-48), and 63% were female. Almost all wore a facemask whenever they left their house. In addition, many avoided public places altogether. For example, 159 (57%) did not use public transport at all, 108 (39%) always wore a facemask in public transport, 4 (1%) sometimes, and 7 (3%) never. 81% agreed with the statement that facemasks protect the person who wears the mask, and 91% agreed that facemasks protect others. One third reported that it was uncomfortable to wear a mask because of their runny nose, 31% because of cough, and 22% because of difficulty breathing. Participants less often wore facemasks in public when there was no national requirement. Only two persons had a personal exemption from wearing a facemask prescribed by a physician.ConclusionsThis international study found that people with PCD carefully shield themselves, and most wear facemasks everywhere in public. People who did not wear facemasks in public came from countries without a national facemask requirement. National policies mandating facemask use in public are important for universal use to protect high-risk populations from SARS-CoV-2 infections.

scholarly journals Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 2031 ◽  
Author(s):  
Israel Amirav ◽  
Mary Roduta Roberts ◽  
Huda Mussaffi ◽  
Avigdor Mandelberg ◽  
Yehudah Roth ◽  
...  
Keyword(s):  
Data Collection ◽  
Clinical Research ◽  
Clinical Data ◽  
Primary Ciliary Dyskinesia ◽  
Completion Rates ◽  
End User ◽  
Revision Process ◽  
Data Collection And Analysis ◽  
Challenges And Opportunities ◽  
Ciliary Dyskinesia

Rationale: Primary ciliary dyskinesia (PCD) is under diagnosed and underestimated. Most clinical research has used some form of questionnaires to capture data but none has been critically evaluated particularly with respect to its end-user feasibility and utility. Objective: To critically appraise a clinical data collection questionnaire for PCD used in a large national PCD consortium in order to apply conclusions in future PCD research. Methods: We describe the development, validation and revision process of a clinical questionnaire for PCD and its evaluation during a national clinical PCD study with respect to data collection and analysis, initial completion rates and user feedback. Results: 14 centers participating in the consortium successfully completed the revised version of the questionnaire for 173 patients with various completion rates for various items. While content and internal consistency analysis demonstrated validity, there were methodological deficiencies impacting completion rates and end-user utility. These deficiencies were addressed resulting in a more valid questionnaire. Conclusions: Our experience may be useful for future clinical research in PCD. Based on the feedback collected on the questionnaire through analysis of completion rates, judgmental analysis of the content, and feedback from experts and end users, we suggest a practicable framework for development of similar tools for various future PCD research.

scholarly journals High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Thorax ◽  
2017 ◽  
Vol 73 (2) ◽  
pp. 157-166 ◽  
Author(s):  
Amelia Shoemark ◽  
Eduardo Moya ◽  
Robert A Hirst ◽  
Mitali P Patel ◽  
Evelyn A Robson ◽  
...  
Keyword(s):  
South Asian ◽  
Situs Inversus ◽  
Diagnostic Tests ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Phenotype ◽  
Phenotypic Variability ◽  
Asian Population ◽  
Missense Variant ◽  
South Asian Population ◽  
Ciliary Dyskinesia

RationalePrimary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of primary ciliary dyskinesia in the UK South Asian population is 1:2265. Early, accurate diagnosis is key to implementing appropriate management but clinical diagnostic tests can be equivocal.ObjectivesTo determine the importance of genetic screening for primary ciliary dyskinesia in a UK South Asian population with a typical clinical phenotype, where standard testing is inconclusive.MethodsNext-generation sequencing was used to screen 86 South Asian patients who had a clinical history consistent with primary ciliary dyskinesia. The effect of a CCDC103 p.His154Pro missense variant compared with other dynein arm-associated gene mutations on diagnostic/phenotypic variability was tested. CCDC103 p.His154Pro variant pathogenicity was assessed by oligomerisation assay.ResultsSixteen of 86 (19%) patients carried a homozygous CCDC103 p.His154Pro mutation which was found to disrupt protein oligomerisation. Variable diagnostic test results were obtained including normal nasal nitric oxide levels, normal ciliary beat pattern and frequency and a spectrum of partial and normal dynein arm retention. Fifteen (94%) patients or their sibling(s) had situs inversus suggesting CCDC103 p.His154Pro patients without situs inversus are missed.ConclusionsThe CCDC103 p.His154Pro mutation is more prevalent than previously thought in the South Asian community and causes primary ciliary dyskinesia that can be difficult to diagnose using pathology-based clinical tests. Genetic testing is critical when there is a strong clinical phenotype with inconclusive standard diagnostic tests.

scholarly journals Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)

BMJ Open ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. e051433
Author(s):  
Myrofora Goutaki ◽  
Yin Ting Lam ◽  
Mihaela Alexandru ◽  
Andreas Anagiotos ◽  
Miguel Armengot ◽  
...  
Keyword(s):  
Lung Disease ◽  
Study Protocol ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Symptoms ◽  
Ethics Committees ◽  
Human Research Ethics ◽  
Patient Organisations ◽  
Patient Reported ◽  
Reported Data ◽  
Ciliary Dyskinesia

IntroductionPrimary ciliary dyskinesia (PCD) is a rare, genetic, multiorgan disease with an estimated prevalence of 1 in 10 000. It affects mainly the upper and lower airways due to impaired mucociliary clearance. Almost all patients have sinonasal or otologic (ear–nose–throat, ENT) problems, although the ENT clinical phenotype may present great variability. Despite that, data on PCD ENT manifestations are scarce and based on small single-centre studies. To date, we know little about the spectrum and severity of PCD ENT disease, its association with lung disease, its course over life and its determinants of prognosis.This study protocol describes the aims and methods of the first prospective, observational, multinational cohort study focusing on ENT disease in patients with PCD.Methods and analysisThe ENT prospective international cohort of patients with PCD (EPIC-PCD) is a prospective standardised observational clinical cohort set up as a multinational multicentre study, embedded into routine patient care. It aims to longitudinally characterise ENT disease in patients with PCD and its association with lung disease, and to identify determinants of its prognosis. Patients of all ages, diagnosed with PCD who undergo an ENT clinical assessment at least once a year at one of the participating centres will be invited to participate. Collected data include diagnostic test results, results of ENT examinations, lung function measurements, information on management of ENT disease and patient-reported data on clinical symptoms and health-related quality of life (QoL). Data are collected using the standardised PCD-specific FOLLOW-PCD form and the validated QoL-PCD questionnaire.Ethics and disseminationThe study has been reviewed and approved by the Human Research Ethics Committees at all participating centres, based on local legislation. The results of the study will be published in scientific journals, presented at scientific conferences and disseminated to participants and national patient organisations.Trial registrationNCT04611516.

scholarly journals Primary ciliary dyskinesia (Siewert's / Kartagener's Syndrome): Respiratory symptoms and psycho-social impact

2003 ◽  
Vol 3 (1) ◽  
Author(s):  
I Christopher McManus ◽  
Hannah M Mitchison ◽  
Eddie MK Chung ◽  
Georgina F Stubbings ◽  
Naomi Martin
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Respiratory Symptoms ◽  
Social Impact ◽  
Kartagener's Syndrome ◽  
Ciliary Dyskinesia

scholarly journals Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 2031
Author(s):  
Israel Amirav ◽  
Mary Roduta Roberts ◽  
Huda Mussaffi ◽  
Avigdor Mandelberg ◽  
Yehudah Roth ◽  
...  
Keyword(s):  
Data Collection ◽  
Clinical Research ◽  
Clinical Data ◽  
Primary Ciliary Dyskinesia ◽  
Completion Rates ◽  
End User ◽  
Revision Process ◽  
Data Collection And Analysis ◽  
Challenges And Opportunities ◽  
Ciliary Dyskinesia

Rationale: Primary ciliary dyskinesia (PCD) is under diagnosed and underestimated. Most clinical research has used some form of questionnaires to capture data but none has been critically evaluated particularly with respect to its end-user feasibility and utility. Objective: To critically appraise a clinical data collection questionnaire for PCD used in a large national PCD consortium in order to apply conclusions in future PCD research. Methods: We describe the development, validation and revision process of a clinical questionnaire for PCD and its evaluation during a national clinical PCD study with respect to data collection and analysis, initial completion rates and user feedback. Results: 14 centers participating in the consortium successfully completed the revised version of the questionnaire for 173 patients with various completion rates for various items. While content and internal consistency analysis demonstrated validity, there were methodological deficiencies impacting completion rates and end-user utility. These deficiencies were addressed resulting in a more valid questionnaire. Conclusions: Our experience may be useful for future clinical research in PCD. Based on the feedback collected on the questionnaire through analysis of completion rates, judgmental analysis of the content, and feedback from experts and end users, we suggest a practicable framework for development of similar tools for various future PCD research.

Respiratory symptoms and physical activity in patients with Primary Ciliary Dyskinesia in Switzerland

2021 ◽  
Author(s):  
Yin Ting Lam ◽  
Leonie Hüsler ◽  
Eugenie Collaud ◽  
Eva Pedersen ◽  
Claudia Kuehni ◽  
...  
Keyword(s):  
Physical Activity ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Symptoms ◽  
Ciliary Dyskinesia

Bronchiectasis

2021 ◽  
pp. 215-234
Author(s):  
Terry Robinson ◽  
Jane Scullion
Keyword(s):  
Cystic Fibrosis ◽  
Chest Pain ◽  
Antibiotic Treatment ◽  
Primary Infection ◽  
Primary Ciliary Dyskinesia ◽  
Shortness Of Breath ◽  
Bronchial Wall ◽  
Inflammatory Conditions ◽  
Sputum Production ◽  
Ciliary Dyskinesia

Bronchiectasis is defined as irreversible bronchial wall dilatation and thickening. It may present clinically with recurrent chest infections, cough, chronic sputum production, shortness of breath, pleuritic chest pain, fatigue, and malaise. It can occur as a result of a primary infection, toxic insult occurring at any time from childhood to late adulthood, immunodeficiencies, some inflammatory conditions, and some inherited conditions such as primary ciliary dyskinesia and cystic fibrosis, but in approximately 50% of cases no underlying cause is found. This chapter covers the causes, clinical features, and management of bronchiectasis, including antibiotic treatment. Other infections that may occur are also explained, and monitoring regimes are indicated.

scholarly journals Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD

2020 ◽  
Vol 6 (1) ◽  
pp. 00237-2019 ◽  
Author(s):  
Myrofora Goutaki ◽  
Jean-François Papon ◽  
Mieke Boon ◽  
Carmen Casaulta ◽  
Ernst Eber ◽  
...  
Keyword(s):  
Data Collection ◽  
Real Time ◽  
Clinical Data ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Routine Care ◽  
Standards Of Care ◽  
Patient Questionnaire ◽  
Ciliary Dyskinesia

Clinical data on primary ciliary dyskinesia (PCD) are limited, heterogeneous and mostly derived from retrospective chart reviews, leading to missing data and unreliable symptoms and results of physical examinations. We need standardised prospective data collection to study phenotypes, severity and prognosis and improve standards of care.A large, international and multidisciplinary group of PCD experts developed FOLLOW-PCD, a standardised clinical PCD form and patient questionnaire. We identified existing forms for clinical data collection via the Better Experimental Approaches to Treat PCD (BEAT-PCD) COST Action network and a literature review. We selected and revised the content items with the working group and patient representatives. We then revised several drafts in an adapted Delphi process, refining the content and structure.FOLLOW-PCD has a modular structure, to allow flexible use based on local practice and research focus. It includes patient-completed versions for the modules on symptoms and lifestyle. The form allows a comprehensive standardised clinical assessment at baseline and for annual reviews and a short documentation for routine follow-up. It can either be completed using printable paper forms or using an online REDCap database.Data collected in FOLLOW-PCD version 1.0 is available in real-time for national and international monitoring and research. The form will be adapted in the future after extensive piloting in different settings and we encourage the translation of the patient questionnaires to multiple languages. FOLLOW-PCD will facilitate quality research based on prospective standardised data from routine care, which can be pooled between centres, to provide first-line and real-time evidence for clinical decision-making.

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