LuftiBus in the school (LUIS): a population-based study on respiratory health in schoolchildren.

Respiratory disease is common in children and strongly associated with lifestyle and environmental exposures. Thus, it is important to study the epidemiology locally. The LuftiBus in the School (LUIS) study was set up to assess the respiratory health of schoolchildren in the canton of Zurich, Switzerland. LUIS is a cross-sectional population-based study that was carried out 2013 to 2016. Children aged 6–17 years living in the canton of Zurich were eligible to participate. All schools in the canton were approached and the school head decided whether the school would participate and with which classes. Consenting parents answered a standardised questionnaire at home and assenting children completed a shorter questionnaire by interview at school. Trained technicians measured children’s lung function, including spirometry, double tracer gas single-breath washout (DTG-SBW) and fractional exhaled nitric oxide (FeNO). Address histories of participants were geocoded to be linked with area-based socioeconomic measures and environmental exposures such as spatiotemporal air pollution estimates for specific time periods and locations. A subgroup was seen again 12 months later using the same procedures to collect longitudinal data. The study included 3870 children at baseline and 655 at the 1-year follow-up. Median age was 12.7 years; 281 (8%) had wheezed in the past year. At baseline we collected 3457 (89%) parental and 3546 (92%) child questionnaires, and 3393 (88%) FeNO, 3446 (89%) spirometry, and 1795 (46%) DTG-SBW measurements. LUIS is a rich resource of health-related data, with information on lung function, environmental exposures and respiratory health on Swiss schoolchildren

Respiratory symptoms of Swiss people with primary 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 and ear 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 (86%) out of 86 invited persons or their caregivers (median age 23 years, range 3-73 years), 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 gastro-oesophageal reflux (n=11; 15%), vomiting (n=8; 11%) and urinary incontinence (n=6; 8%). Only nine (12%) participants reported frequent wheeze, which occurred mainly during infection or exercise, while 49 (66%) reported shortness of breath, and 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 to describe 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

Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood appr

Paediatric cohort studies on lower respiratory diseases and their reporting quality: systematic review of the year 2018.

The paediatric respiratory research community uses cohort studies extensively. However, the landscape of these studies and their quality of reporting has not been assessed.We performed a systematic review of publications on cohort studies reporting on paediatric lower respiratory problems published in 2018. We searched Medline and EMBASE and extracted data on the studies' and journals' characteristics. We assessed the number of items of the STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) checklist that a random sample (100 papers) reported. We analysed factors associated with the STROBE score and with the most poorly reported items, using Poisson and logistic regressionOf the 21 319 records identified, 369 full-text articles met our inclusion criteria. Most papers studied asthma aetiology through birth cohorts and were based in Europe or North America. The reporting quality was insufficient: 15% reported the 22 STROBE items; median score: 18 (IQR: 16-21). The most poorly reported items were: sources of bias, sample size, statistical methods, descriptive results and generalisability. None of the studies' or journals' factors were associated with the STROBE score.We need a joined effort of editors, reviewers and authors to improve the reporting quality of paediatric cohort studies on respiratory problems

COVID-PCD: a participatory research study on the impact of COVID-19 in people with primary ciliary dyskinesia [protocol].

COVID-PCD is a participatory study initiated by people with primary ciliary dyskinesia (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 coronavirus disease 2019 (COVID-19), symptoms and course of disease; identify risk factors for prognosis; and assess experiences, wishes and needs. The 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 severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections, current symptoms, social contact behaviour and physical activity. Occasional thematic questionnaires are sent out focussing 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. The 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

Incidence and severity of SARS-CoV-2 infections in people With primary ciliary dyskinesia

Objectives: there is little data on SARS-CoV-2 in people with rare chronic diseases. We studied incidence and severity of SARS-CoV-2 and its risk factors in people with primary ciliary dyskinesia (PCD) from May 2020 to May 2022.Methods: we used self-reported questionnaire data from the COVID-PCD study at baseline or during weekly follow-ups. We studied factors associated with SARS-CoV-2 and symptoms using Poisson regression.Results: by May 2022, 728 people participated (40% male, median age 27 years; range 0–85). 87 (12%) reported SARS-CoV-2 at baseline or during follow-up and 62 people reported an incident SARS-CoV-2 infection during 716 person-years (incidence rate 9 per 100 person years). The strongest predictors for reporting SARS-CoV-2 were exposure during periods where Delta variant was dominant (IRR 4.52, 95% CI 1.92–10.6) and Omicron variants (IRR 13.3, 95% CI 5.2–33.8). Severity was mild; 12 (14%) were asymptomatic and 75 (86%) had symptoms among whom four were hospitalized. None needed intensive care and nobody died.Conclusion: the COVID-PCD study participants did not have a higher incidence of SARS-CoV-2 infections nor higher risk of severe COVID-19 disease than people from the general population