Respiratory symptoms do not reflect functional impairment in early CF lung disease.

BACKGROUND Lung disease can develop within the first year of life in infants with cystic fibrosis (CF). However, the frequency and severity of respiratory symptoms in infancy are not known. METHODS We assessed respiratory symptoms in 50 infants with CF and 50 healthy matched controls from two prospective birth cohort studies. Respiratory symptoms and respiratory rate were documented by standardized weekly interviews throughout the first year. Infants performed multiple breath washout in the first weeks of life. RESULTS We analyzed 4552 data points (2217 in CF). Respiratory symptoms (either mild or severe) were not more frequent in infants with CF (OR:1.1;95% CI:[0.76, 1.59]; p=0.6). Higher lung clearance index and higher respiratory rate in infants with CF were not associated with respiratory symptoms. CONCLUSIONS We found no difference in respiratory symptoms between healthy and CF infants. These data indicate that early CF lung disease may not be captured by clinical presentation alone

Data accuracy, consistency and completeness of the national Swiss cystic fibrosis patient registry: Lessons from an ECFSPR data quality project.

BACKGROUND Good data quality is essential when rare disease registries are used as a data source for pharmacovigilance studies. This study investigated data quality of the Swiss cystic fibrosis (CF) registry in the frame of a European Cystic Fibrosis Society Patient Registry (ECFSPR) project aiming to implement measures to increase data reliability for registry-based research. METHODS All 20 pediatric and adult Swiss CF centers participated in a data quality audit between 2018 and 2020, and in a re-audit in 2022. Accuracy, consistency and completeness of variables and definitions were evaluated, and missing source data and informed consents (ICs) were assessed. RESULTS The first audit included 601 out of 997 Swiss people with CF (60.3 %). Data quality, as defined by data correctness ≥95 %, was high for most of the variables. Inconsistencies of specific variables were observed because of an incorrect application of the variable definition. The proportion of missing data was low with 5 % of missing documents). After providing feedback to the centers, availability of genetic source data and ICs improved. CONCLUSIONS Data audits demonstrated an overall good data quality in the Swiss CF registry. Specific measures such as support of the participating sites, training of data managers and centralized data collection should be implemented in rare disease registries to optimize data quality and provide robust data for registry-based scientific research

CMS physics technical design report : Addendum on high density QCD with heavy ions

Peer reviewe

Diagnosis in children with exercise-induced respiratory symptoms: a multi-centre study.

OBJECTIVE Exercise-induced respiratory symptoms (EIS) are common in childhood and reflect different diseases that can be difficult to diagnose. In children referred to respiratory outpatient clinics for EIS, we compared the diagnosis proposed by the primary care physician with the final diagnosis from the outpatient clinic and described diagnostic tests and treatments. DESIGN Observational study of respiratory outpatients aged 0-16 years nested in the Swiss Paediatric Airway Cohort (SPAC). PATIENTS We included children with EIS as main reason for referral. Information about diagnostic investigations, final diagnosis, and treatment prescribed came from outpatient records. We included 214 children (mean age 12 years, range 2-17, 54% males) referred for EIS. RESULTS The final diagnosis was asthma in 115 (54%), extrathoracic dysfunctional breathing (DB) in 35 (16%), thoracic DB in 22 (10%), asthma plus DB in 23 (11%), insufficient fitness in 10 (5%), chronic cough in 6 (3%), and other diagnoses in 3 (1%). Final diagnosis differed from referral diagnosis in 115 (54%, 95%-CI 46-60%). Spirometry, body plethysmography, and exhaled nitric oxide were performed in almost all, exercise-challenge tests in a third, and laryngoscopy in none. 91% of the children with a final diagnosis of asthma were prescribed inhaled medication and 50% of children with DB were referred to physiotherapy. CONCLUSIONS Diagnosis given at the outpatient clinic often differed from the diagnosis proposed by the referring physician. Diagnostic evaluations, management, and follow-up differed between clinics and diagnostic groups highlighting the need for evidence-based diagnostic guidelines and harmonised procedures for children seen for EIS. This article is protected by copyright. All rights reserved

Respiratory symptoms do not reflect functional impairment in early CF lung disease

BACKGROUND Lung disease can develop within the first year of life in infants with cystic fibrosis (CF). However, the frequency and severity of respiratory symptoms in infancy are not known. METHODS We assessed respiratory symptoms in 50 infants with CF and 50 healthy matched controls from two prospective birth cohort studies. Respiratory symptoms and respiratory rate were documented by standardized weekly interviews throughout the first year. Infants performed multiple breath washout in the first weeks of life. RESULTS We analyzed 4552 data points (2217 in CF). Respiratory symptoms (either mild or severe) were not more frequent in infants with CF (OR:1.1;95% CI:[0.76, 1.59]; p=0.6). Higher lung clearance index and higher respiratory rate in infants with CF were not associated with respiratory symptoms. CONCLUSIONS We found no difference in respiratory symptoms between healthy and CF infants. These data indicate that early CF lung disease may not be captured by clinical presentation alone

Diagnosis in children with exercise‐induced respiratory symptoms: A multi‐center study

Objective Exercise‐induced respiratory symptoms (EIS) are common in childhood and reflect different diseases that can be difficult to diagnose. In children referred to respiratory outpatient clinics for EIS, we compared the diagnosis proposed by the primary care physician with the final diagnosis from the outpatient clinic and described diagnostic tests and treatments. Design An observational study of respiratory outpatients aged 0–16 years nested in the Swiss Paediatric Airway Cohort (SPAC). Patients We included children with EIS as the main reason for referral. Information about diagnostic investigations, final diagnosis, and treatment prescribed came from outpatient records. We included 214 children (mean age 12 years, range 2–17, 54% males) referred for EIS. Results The final diagnosis was asthma in 115 (54%), extrathoracic dysfunctional breathing (DB) in 35 (16%), thoracic DB in 22 (10%), asthma plus DB in 23 (11%), insufficient fitness in 10 (5%), chronic cough in 6 (3%), and other diagnoses in 3 (1%). Final diagnosis differed from referral diagnosis in 115 (54%, 95%‐CI 46%–60%). Spirometry, body plethysmography, and exhaled nitric oxide were performed in almost all, exercise‐challenge tests in a third, and laryngoscopy in none. 91% of the children with a final diagnosis of asthma were prescribed inhaled medication and 50% of children with DB were referred to physiotherapy. Conclusions Diagnosis given at the outpatient clinic often differed from the diagnosis proposed by the referring physician. Diagnostic evaluations, management, and follow‐up differed between clinics and diagnostic groups highlighting the need for evidence‐based diagnostic guidelines and harmonized procedures for children seen for EIS

Treatment decisions in children with asthma in a real-life clinical setting: the Swiss Paediatric Airway Cohort (SPAC).

BACKGROUND Asthma treatment should be modified according to symptom control and future risk, but there is scarce data on what drives treatment adjustments in routine tertiary care. OBJECTIVE We studied factors that drive asthma treatment adjustment in paediatric outpatient clinics. METHODS We did a cross-sectional analysis of the Swiss Paediatric Airway Cohort (SPAC), a clinical cohort of 0-16-year-old children seen by paediatric pulmonologists. We collected information on diagnosis, treatment, lung function and Fractional exhaled Nitric Oxide (FeNO) from hospital records; and on symptoms, sociodemographic and environmental factors from a parental questionnaire. We used reported symptoms to classify asthma control and categorised treatment following the 2020 GINA guidelines. We used multivariable logistic regression to study factors associated with treatment adjustment (step-up or down vs. no change). RESULTS We included 551 children diagnosed with asthma (mean age 10 years, 37% female). At the clinical visit, most children were prescribed GINA Step 3 (35%). Compared to pre-visit treatment, 252 (47%) children remained on the same step, 227 (42%) were stepped-up and 58 (11%) were stepped-down. Female sex (aOR 1.61, 95% CI 1.05-2.47), poor asthma control (3.08, 1.72-5.54), and a lower Forced Expiratory Volume in the first second (FEV1) Z-score (0.70, 0.56-0.86 per 1 Z-score increase) were independently associated with treatment step-up, and low FeNO (2.34, 1.23-4.45) with treatment step-down, with a marked heterogeneity between clinics. CONCLUSION In this tertiary care real-life study, we identified main drivers for asthma treatment adjustment. These findings may help improve both asthma management guidelines and clinical practice

Treatment Decisions in Children With Asthma in a Real-Life Clinical Setting: The Swiss Paediatric Airway Cohort

BACKGROUND Asthma treatment should be modified according to symptom control and future risk, but there are scarce data on what drives treatment adjustments in routine tertiary care. OBJECTIVE We studied factors that drive asthma treatment adjustment in pediatric outpatient clinics. METHODS We performed a cross-sectional analysis of the Swiss Paediatric Airway Cohort, a clinical cohort of 0- to 16-year-old children seen by pediatric pulmonologists. We collected information on diagnosis, treatment, lung function, and FeNO from hospital records; and on symptoms, sociodemographic, and environmental factors from a parental questionnaire. We used reported symptoms to classify asthma control and categorized treatment according to the 2020 Global Initiative for Asthma guidelines. We used multivariable logistic regression to study factors associated with treatment adjustment (step-up or down vs no change). RESULTS We included 551 children diagnosed with asthma (mean age, 10 years; 37% female). At the clinical visit, most children were prescribed Global Initiative for Asthma step 3 (35%). Compared with previsit treatment, 252 children remained on the same step (47%), 227 were stepped up (42%), and 58 were stepped down (11%). Female sex (adjusted odds ratio [aOR] = 1.61; 95% confidence interval [CI], 1.05-2.47), poor asthma control (aOR = 3.08; 95% CI, 1.72-5.54), and lower FEV$_{1}$ Z-score (aOR = 0.70; 95% CI, 0.56-0.86 per one Z-score increase) were independently associated with treatment step-up, and low FeNO (aOR = 2.34; 95% CI, 1.23-4.45) was associated with treatment step-down, with marked heterogeneity between clinics. CONCLUSIONS In this tertiary care real-life study, we identified main drivers for asthma treatment adjustment. These findings may help improve both asthma management guidelines and clinical practice