scholarly journals COVID-19 Vaccinations: Perceptions and Behaviours in People with Primary Ciliary Dyskinesia

Vaccines ◽  
2021 ◽  
Vol 9 (12) ◽  
pp. 1496
Author(s):  
Eva S. L. Pedersen ◽  
Maria Christina Mallet ◽  
Yin Ting Lam ◽  
Sara Bellu ◽  
Isabelle Cizeau ◽  
...  
Keyword(s):  
Side Effects ◽  
Support Groups ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Infections ◽  
Social Contact ◽  
Vaccine Uptake ◽  
Specific Information ◽  
Vaccination Uptake ◽  
Contact Behaviour ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disease that causes recurrent respiratory infections. People with PCD may be at higher risk of severe coronavirus disease 2019 (COVID-19), and therefore vaccination against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is important. We studied vaccination willingness, speed of vaccination uptake, side effects, and changes in social contact behaviour after vaccination in people with PCD. We used data from COVID-PCD, an international participatory cohort study. A COVID-19 vaccination questionnaire was emailed to participants in May 2021 and 423 participants from 31 countries replied (median age: 30 years, range 1–85 years; 261 (62%) female). Vaccination uptake and willingness were high, with 273 of 287 adults (96%) being vaccinated or willing to be in June 2021; only 4% were hesitant. The most common reason for hesitancy was fear of side effects, reported by 88%. Mild side effects were common, but no participant reported severe side effects. Half of the participants changed their social behaviour after vaccination by seeing friends and family more often. The high vaccination willingness in the study population might reflect the extraordinary effort taken by PCD support groups to inform people about COVID-19 vaccination. Clear and specific information and involvement of representatives is important for high vaccine uptake.

scholarly journals COVID-19 vaccinations: perceptions and behaviours in people with primary ciliary dyskinesia

2021 ◽  
Author(s):  
Eva Sophie Lunde Pedersen ◽  
Maria Christina Mallet ◽  
Yin Ting Lam ◽  
Sara Bellu ◽  
Isabelle Cizeau ◽  
...  
Keyword(s):  
Side Effects ◽  
Support Groups ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Infections ◽  
Public Information ◽  
Social Contact ◽  
Vaccine Uptake ◽  
Vaccination Uptake ◽  
Contact Behaviour ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disease that causes recurrent respiratory infections. People with PCD may be at high risk of severe COVID-19 and vaccination against SARS-CoV-2 is therefore important. We studied vaccination willingness, speed of vaccination uptake, side effects, and changes in social contact behavior after vaccination in people with PCD. We used data from COVID-PCD, an international participatory cohort study. A questionnaire was e-mailed to participants in May 2021 that asked about COVID-19 vaccinations. 423 participants from 31 countries replied (median age: 30 years; 261 (62%) female). Vaccination uptake and willingness was high with 273 of 287 adults (96%) being vaccinated or willing to be in June 2021; only 4% were hesitant. The most common reasons for hesitancy were fear of side effects (reported by 88%). Mild side effects were common but no participant reported severe side effects. Half of participants changed their social contact behaviour after vaccination by seeing friends and family more often. The high vaccination willingness in the study population might reflect the extraordinary effort taken by PCD support groups to inform people about COVID-19 vaccination. Clear and specific public information and involvement of representatives is important for high vaccine uptake.

scholarly journals COVID-PCD – a participatory research study on the impact of COVID-19 in people with Primary Ciliary Dyskinesia

2020 ◽  
Author(s):  
Eva SL Pedersen ◽  
Eugénie NR Collaud ◽  
Rebeca Mozun ◽  
Cristina Ardura-Garcia ◽  
Yin Ting Lam ◽  
...  
Keyword(s):  
Support Groups ◽  
Social Contact ◽  
Epidemiological Data ◽  
Course Of Disease ◽  
Baseline Questionnaire ◽  
Study Results ◽  
Contact Behaviour ◽  
The Impact ◽  
Ciliary Dyskinesia

AbstractIntroductionCOVID-PCD is a participatory study initiated by people with PCD who have an essential vote in all stages of the research from the design of the study to the recruitment of participants, and interpretation and communication of the study results. COVID-PCD aims to collect epidemiological data in real time from people with PCD throughout the pandemic to describe incidence of COVID-19, symptoms, and course of disease; identify risk factors for prognosis; and assess experiences, wishes, and needs.MethodsThe study is advertised through patient support groups and participants register online on the study website (www.covid19pcd.ispm.ch). The study invites persons of any age from anywhere in the world with a suspected or confirmed PCD. A baseline questionnaire assesses details on PCD diagnosis, habitual symptoms, and COVID-19 episodes that occurred before study entry. Afterwards, participants receive a weekly follow-up questionnaire with questions on incident SARS-CoV-2 infections, current symptoms, social contact behaviour, and physical activity. Occasional thematic questionnaires are sent out focusing on emerging questions of interest chosen by people with PCD. In case of hospitalisation, patients or family members are asked to obtain a hospital report. Results are continuously analysed and summaries put online.ConclusionThe study started recruitment on April 30, 2020, and 556 people with PCD completed the baseline questionnaire by November 2, 2020. The COVID-PCD study is a participatory study that follows people with PCD during the COVID-19 pandemic, helps to empower affected persons, and serves as a platform for communication between patients, physicians, and researchers.

scholarly journals COVID-PCD – a participatory research study on the impact of COVID-19 in people with Primary Ciliary Dyskinesia

2020 ◽  
pp. 00843-2020
Author(s):  
Eva S. L. Pedersen ◽  
Eugénie N. R. Collaud ◽  
Rebeca Mozun ◽  
Cristina Ardura-Garcia ◽  
Yin Ting Lam ◽  
...  
Keyword(s):  
Support Groups ◽  
Social Contact ◽  
Epidemiological Data ◽  
Course Of Disease ◽  
Baseline Questionnaire ◽  
Study Results ◽  
Contact Behaviour ◽  
The Impact ◽  
Ciliary Dyskinesia

IntroductionCOVID-PCD is a participatory study initiated by people with PCD who have an essential vote in all stages of the research from the design of the study to the recruitment of participants, and interpretation and communication of the study results. COVID-PCD aims to collect epidemiological data in real time from people with PCD throughout the pandemic to describe incidence of COVID-19, symptoms, and course of disease; identify risk factors for prognosis; and assess experiences, wishes, and needs.MethodsThe study is advertised through patient support groups and participants register online on the study website (www.covid19pcd.ispm.ch). The study invites persons of any age from anywhere in the world with a suspected or confirmed PCD. A baseline questionnaire assesses details on PCD diagnosis, habitual symptoms, and COVID-19 episodes that occurred before study entry. Afterwards, participants receive a weekly follow-up questionnaire with questions on incident SARS-CoV-2 infections, current symptoms, social contact behaviour, and physical activity. Occasional thematic questionnaires are sent out focusing on emerging questions of interest chosen by people with PCD. In case of hospitalisation, patients or family members are asked to obtain a hospital report. Results are continuously analysed and summaries put online.ConclusionThe study started recruitment on April 30, 2020, and 556 people with PCD completed the baseline questionnaire by November 2, 2020. The COVID-PCD study is a participatory study that follows people with PCD during the COVID-19 pandemic, helps to empower affected persons, and serves as a platform for communication between patients, physicians, and researchers.

scholarly journals Frequency and Types of Ciliary Ultrastructural Defects in Patients With Suspected Primary Ciliary Dyskinesia Symptoms Analyzed by Transmission Electron Microscopy

2021 ◽  
Author(s):  
Mitra Rezaei ◽  
Amirali Soheili ◽  
Atefeh Fakharian ◽  
Hamid Jamaati ◽  
Jahangir Ghorbani ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Transmission Electron Microscopy ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Infections ◽  
Descriptive Analysis ◽  
Final Diagnosis ◽  
International Consensus ◽  
Tem Analysis ◽  
Transmission Electron ◽  
Ciliary Dyskinesia

Abstract Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition of often chronic respiratory infections in early life. A useful tool for early diagnosis of such ciliary abnormalities is transmission electron microscopy (TEM). This study aimed to use TEM to examine these defects and speculate on a diagnosis.Methods: From 2017 to 2019, all referral patients with suspected PCD symptoms were included in this study. Nasal samples were taken after exclusion of further potential differential diagnosis and prepared for TEM. The final diagnosis was based on the International Consensus Guideline for reporting transmission electron microscopy results in the diagnosis of PCD. A descriptive analysis of demographic and ciliary ultrastructural data was performed by SPSS ver 21.Results: Study population consisted of 37 women and 30 men (mean age=20.34±10.7 years). The clinical presentations were as follows: bronchiectasis: 26 patients (38.8%); sinusitis: 23(34.3%); recurrent respiratory infection: 21 patients (31.3%); auditory symptoms: 5 patients (7.5%); situs inversus: 3 patients (4.4%); productive cough: 2 patients (3%); infertility: 2 patients (3%); polyposis: 1 patient (1.5%). According to TEM analysis, 12 (17%) of patients were PCD, 11 (15.7%) were indicating PCD cases, 26 (37.1%) of them had no criteria of PCD and 18 (25.7%) of cases had normal ciliary ultrastructure. Compound cilia and extra-tubule were reported in 29 (41.4%) and 31(44.3%) of patients, respectively. The outer dynein arm defect was seen in 11(16.4%) cases and the inner dynein arm (IDA) defect was seen in 20 (29.8%) cases. Two patients (3%) had microtubular disorganization.Conclusion: Bronchiectasis and sinusitis were the most common complications. The compound cilia and extra-tubule were the most prevalent TEM finding among all participants. However, the most prevalent hallmark diagnostic defects among PCD patients were ODA and IDA defects among PCD patients. Other diagnostic PCD tests should also be performed in patients in the indicating PCD group, those without PCD criteria, and normal patients with a highly suggestive history. Cell-culture, as well, should confirm IDA defects. This study highlights the fundamental need to consider ciliary defect among probable diagnoses and use TEM as a practical diagnostic tool.

scholarly journals Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Tamara Svobodová ◽  
Jana Djakow ◽  
Daniela Zemková ◽  
Adam Cipra ◽  
Petr Pohunek ◽  
...  
Keyword(s):  
Body Length ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Infections ◽  
Growth Period ◽  
Growth Delay ◽  
Childhood Growth ◽  
Population Standards ◽  
Children And Young Adults ◽  
Nutritional Deficits ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) leads to recurrent/chronic respiratory infections, resulting in chronic inflammation and potentially in chronic pulmonary disease with bronchiectasis. We analyzed longitudinal data on body length/height and body mass index (BMI) for 29 children and young adults with PCD aging 1.5–24 years (median, 14.5) who had been diagnosed at the age of 0.5–17 years (median, 8). Of these, 10 carried pathogenic mutations in eitherDNAH5orDNAI1. In children with PCD, body length/height progressively decreased from+0.40±0.24SDS (the 1st birthday),+0.16±0.23SDS (3 years old), and-0.13±0.21SDS (5 years old) to-0.54±0.19SDS (7 years old;P=0.01versus0),-0.67±0.21SDS (9 years old;P=0.005versus0),-0.52±0.24SDS (11 years old;P=0.04versus0), and-0.53±0.23SDS (13 years old;P=0.03versus0). These results reflect low growth rates during the childhood growth period. Thereafter, heights stabilized up to the age of 17 years. The growth deterioration was not dependent on sex or disease severity but was more pronounced inDNAH5orDNAI1mutation carriers. BMI did not differ from population standards, which suggests that nutritional deficits are not the cause of growth delay. We conclude that PCD leads to chronic deprivation with significant growth deterioration during childhood.

scholarly journals Wampa is a dynein subunit required for axonemal assembly and male fertility in Drosophila

2019 ◽  
Author(s):  
Elisabeth Bauerly ◽  
Kexi Yi ◽  
Matthew C. Gibson
Keyword(s):  
Male Fertility ◽  
Primary Ciliary Dyskinesia ◽  
Functional Role ◽  
Essential Role ◽  
Respiratory Infections ◽  
Pathological Features ◽  
Dynein Arms ◽  
Cilia And Flagella ◽  
Ciliary Dyskinesia

AbstractAxonemal dyneins are motor proteins that form the inner and outer arms of the axoneme in cilia and flagella. Defects in dynein arms are the leading cause of primary ciliary dyskinesia (PCD), which is characterized by chronic respiratory infections, situs inversus, and sterility. Despite current understanding of pathological features associated with PCD, many of their causative genes still remain elusive. Here we analyze genetic requirements for wampa (wam), a previously uncharacterized component of the outer dynein arm that is essential for male fertility. In addition to a role in outer dynein arm formation, we uncovered additional requirements during spermatogenesis, including regulation of remodeling events for the mitochondria and the nucleus. Due to the conserved nature of axonemal dyneins and their essential role in both PCD and fertility, this study advances our understanding of the pathology of PCD, as well as the functional role of dyneins in axonemal formation and spermatogenesis.

scholarly journals A Case Report of Kartagener Syndrome

2020 ◽  
Vol 24 (3) ◽  
pp. 284-293
Author(s):  
Mahnaz Moradi ◽  
◽  
Leili Yekefallah ◽  
Mohammadali Zohal ◽  
Peyman Namdar ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Rare Case ◽  
Pulmonary Infection ◽  
Respiratory Infections ◽  
Genetic Disorders ◽  
Vasomotor Rhinitis ◽  
Kartagener Syndrome ◽  
Recurrent Respiratory Infections ◽  
Ciliary Dyskinesia ◽  
Timely Treatment

Primary Ciliary Dyskinesia (PCD) and Kartagener Syndrome (KS) are rare genetic disorders. PCD occurs in patients with recurrent sino-pulmonary infection, dextrocardia, chronic vasomotor rhinitis, and bronchiectasis. This study reports a rare case of KS for having further awareness of this disease. According to this study, this disease should be considered in patients with recurrent respiratory infections, because early diagnosis and timely treatment of these patients can lead to reduced irreversible complications and increased life expectancy.

scholarly journals IFT46 Expression in the Nasal Mucosa of Primary Ciliary Dyskinesia Patients: Preliminary Study

2021 ◽  
Vol 12 ◽  
pp. 215265672198928
Author(s):  
Manuel Mata ◽  
Javier Zurriaga ◽  
Lara Milian ◽  
Ana Reula ◽  
Miguel Armengot ◽  
...  
Keyword(s):  
Gene Expression ◽  
Primary Ciliary Dyskinesia ◽  
Mucociliary Clearance ◽  
Respiratory Infections ◽  
Intraflagellar Transport ◽  
Rt Pcr ◽  
Patient Groups ◽  
Preliminary Study ◽  
And Function ◽  
Ciliary Dyskinesia

Background Primary ciliary dyskinesia (PCD) is characterised by an imbalance in mucociliary clearance leading to chronic respiratory infections. Cilia length is considered to be a contributing factor in cilia movement. Recently, IFT46 protein has been related to cilia length. Therefore, this work aims to study IFT46 expression in a PCD patients cohort and analyse its relationship with cilia length and function, as it was not previously described. Materials and methods The expression of one intraflagellar transport ( IFT46) and two regulating ciliary architecture ( FOXJ1 and DNAI2) genes, as well as cilia length of 27 PCD patients, were measured. PCD patients were diagnosed based on clinical data, and cilia function and ultrastructure. Gene expression was estimated by real-time RT-PCR and cilia length by electron microscopy in nasal epithelium biopsies. Results and conclusions: While IFT46 expression was only diminished in patients with short cilia, FOXJ1, and DNAI2 expression were reduced in all PCD patient groups compared to controls levels. Among the PCD patients, cilia were short in 44% (5.9 ± 0.70 µm); nine of these (33% from the total) patients’ cilia also had an abnormal ultrastructure. Cilia length was normal in 33% of patients (6.4 ± 0.39 µm), and only three patients’ biopsies indicated decreased expression of dynein.

scholarly journals Translation of the quality-of-life measure for adults with primary ciliary dyskinesia and its application in patients in Brazil

2019 ◽  
Vol 45 (3) ◽  
Author(s):  
Ana Paula Lima de Queiroz ◽  
Rodrigo Abensur Athanazio ◽  
Mary Anne Kowal Olm ◽  
Bruna Rubbo ◽  
Yuri Reis Casal ◽  
...  
Keyword(s):  
Quality Of Life ◽  
United Kingdom ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Infections ◽  
Genetic Disorder ◽  
Life Questionnaire ◽  
Life Measure ◽  
The United Kingdom ◽  
Ciliary Dyskinesia

ABSTRACT Primary ciliary dyskinesia (PCD) is a genetic disorder that is typically inherited in an autosomal recessive manner. It is clinically characterized by recurrent respiratory infections. However, its repercussions for patient quality of life should not be overlooked. Studies have shown that PCD has a significant impact on the lives of patients, although there are as yet no PCD-specific markers of quality of life. To address that problem, researchers in the United Kingdom developed a quality-of-life questionnaire for patients with PCD. The present communication focuses on the process of translating that questionnaire into Brazilian Portuguese, through a partnership between researchers in Brazil and those in the United Kingdom, as well as its subsequent application in patients in Brazil.

scholarly journals The Antimicrobial Activity of Peripheral Blood Neutrophils Is Altered in Patients with Primary Ciliary Dyskinesia

2021 ◽  
Vol 22 (12) ◽  
pp. 6172
Author(s):  
Maaike Cockx ◽  
Marfa Blanter ◽  
Mieke Gouwy ◽  
Pieter Ruytinx ◽  
Sara Abouelasrar Salama ◽  
...  
Keyword(s):  
Peripheral Blood ◽  
Primary Ciliary Dyskinesia ◽  
Bacterial Infections ◽  
Respiratory Infections ◽  
Neutrophil Extracellular Trap ◽  
Oxygen Species ◽  
Recurrent Respiratory Infections ◽  
Blood Neutrophils ◽  
Low Levels ◽  
Ciliary Dyskinesia

The airways of patients with primary ciliary dyskinesia (PCD) contain persistently elevated neutrophil numbers and CXCL8 levels. Despite their abundance, neutrophils fail to clear the airways from bacterial infections. We investigated whether neutrophil functions are altered in patients with PCD. Neutrophils from patients and healthy controls (HC) were isolated from peripheral blood and exposed to various bacterial stimuli or cytokines. Neutrophils from patients with PCD were less responsive to low levels of fMLF in three different chemotaxis assays (p < 0.05), but expression of the fMLF receptors was unaltered. PCD neutrophils showed normal phagocytic function and expression of adhesion molecules. However, PCD neutrophils produced less reactive oxygen species upon stimulation with bacterial products or cytokines compared to HC neutrophils (p < 0.05). Finally, the capacity to release DNA, as observed during neutrophil extracellular trap formation, seemed to be reduced in patients with PCD compared to HC (p = 0.066). These results suggest that peripheral blood neutrophils from patients with PCD, in contrast to those of patients with cystic fibrosis or COPD, do not show features of over-activation, neither on baseline nor after stimulation. If these findings extend to lung-resident neutrophils, the reduced neutrophil activity could possibly contribute to the recurrent respiratory infections in patients with PCD.

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