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

Phénotypes de génotypes rares de la mucoviscidose (description clinique)

LYON1-BU Santé (693882101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Atteinte respiratoire chez l’enfant en situation de polyhandicap sévère

Respiratory problems have a significant impact on morbidity and mortality in children with severe neurological impairment. In particular, impaired airway clearance, recurrent respiratory infections, bronchial hyper reactivity can lead to acute decompensation and, with time, to chronic respiratory failure. Multiple coexisting and interacting factors that influence the respiratory status of these children should be recognized and effectively addressed to reduce respiratory morbidity and mortality. An accurate assessment involving a multidisciplinary approach and relatively simple interventions can lead to significant improvements in the quality of life of children as well as their parents and carers.Les complications respiratoires ont un impact significatif sur la morbidité et la mortalité chez les enfants en situation de polyhandicap sévère. En particulier l’encombrement bronchique, les infections respiratoires récurrentes et l’hyperréactivité bronchique peuvent conduire à des décompensations aiguës et, avec le temps, à une insuffisance respiratoire chronique. De multiples facteurs coexistant et interagissant qui influencent l’état respiratoire de ces enfants doivent être reconnus et traités efficacement afin de réduire la morbidité et la mortalité respiratoires. Une évaluation précise impliquant une approche multidisciplinaire et des interventions relativement simples peuvent conduire à une amélioration significative de la qualité de vie de ces enfants ainsi que de leurs parents et tuteurs

Dépistage néonatal systématique de la mucoviscidose en Suisse: dès janvier 2011

The diagnosis of cystic fibrosis (CF) is often delayed because of the nonspecificity of a wide variety of clinical symptoms at disease onset. Newborn screening for CF has been advocated to reduce delays in diagnosis, facilitating preventive care for early respiratory and nutritional involvement. According to American and European consensus and experience of existing programs, a Swiss Nationwide Cystic Fibrosis Newborn Screening Program started in January 2011. Screening strategy combines two steps: an immunoreactive trypsinogen assay and DNA mutation analysis in dried blood samples at day 4 (Guthrie cards)

[Implementation of the neonatal cystic fibrosis screening program in Switzerland: beginning January 2011]

The diagnosis of cystic fibrosis (CF) is often delayed because of the nonspecificity of a wide variety of clinical symptoms at disease onset. Newborn screening for CF has been advocated to reduce delays in diagnosis, facilitating preventive care for early respiratory and nutritional involvement. According to American and European consensus and experience of existing programs, a Swiss Nationwide Cystic Fibrosis Newborn Screening Program started in January 2011. Screening strategy combines two steps: an immunoreactive trypsinogen assay and DNA mutation analysis in dried blood samples at day 4 (Guthrie cards)

Ancien prématuré avec dysplasie bronchopulmonaire : quelle prise en charge en 2014 ?

Major improvements in perinatal care have led to increased survival after premature birth and have allowed the survival of very young and immature newborns. Bronchopulmonary dysplasia is a serious complication of prematurity and has become a developmental lung disorder, hardly preventable due to its multiple causes. The treatment serves to maintain a normal growth, reduce the respiratory workload, and prevent further complications, by trying not to interfer with postnatal lung development. Bronchopulmonary dysplasia may be associated with bronchial hyperreactivity and an obstructive bronchial pattern that may lead to frequent hospital admissions for reactive airway disease in the small child, and contribute to the persistence of chronic lung disease mainly as a new chronic obstructive pulmonary disease phenotype in adulthood

Severe and Early Hepatic Failure in A Neonate: A New CFTR Mutation Associated with Medium-Chain Acyl-CoA Deficiency

We report a case of an infant who presented at one month of age with severe malnutrition and neonatal cholestasis. He was born at term in Romania where no cystic fibrosis screening was performed. He rapidly developed cirrhosis and portal hypertension associated with severe pulmonary involvement leading to death at six months of age. Cystic fibrosis was diagnosed based on sweat test and genetic exam. Molecular analysis for CFTR gene identified a new undescribed c.1853_1863del deletion and a SERPINA 1 mutation corresponding to PiS phenotype. Concomitantly, we evidenced medium-chain acyl-CoA deficiency (MCAD). To our knowledge, this association was never described and might be responsible for rapid clinical deterioration and early hepatobiliary complications

Révolution dans le traitement de la mucoviscidose

Cystic Fibrosis is a genetic disorder resulting in the absence or dysfunction of the CFTR protein, a chloride channel present on the surface of epithelia, particularly respiratory. Until recently, treatments only concerned the consequences of the disease. But a new type of molecules called « modulators », is already available to some patients and targets the origin of the disease. « Modulators » are divided into « potentiators », which improve the transport of chloride by the CFTR protein, and « correctors », increasing the amount of CFTR proteins. An oral triple therapy combining a potentiator and two correctors has just been approved in the USA and will treat 85 % of patients. The clinical benefit of « modulators » is remarkable, and these drugs are revolutionizing the treatment of Cystic Fibrosis

Safely Decreasing Rigid Bronchoscopies for Foreign-Body Aspiration in Children: An Algorithm for the Emergency Department

Rigid bronchoscopy was traditionally performed in the management of foreign-body aspiration (FBA). More recently, since development of a less invasive method, flexible bronchoscopy has been proposed in some centers for the management of FBA. For the past few years, we have applied a decisional algorithm, privileging flexible bronchoscopy for diagnosis and, in some cases, for extraction of foreign body (FB). Our aims are first to analyze our current management of FBA and second to examine the bronchoscopic findings and complications

Should Empyema with or without Necrotizing Pneumonia in Children Be Managed Differently?

Background: Necrotizing pneumonia (NP) is an increasing lung infection mostly asso-ciated with pleural empyema. Objectives: We aimed to compare children with empyema with and without concomi-tant NP, in terms of risk factors, management and outcome. Methods: We retrospectively included children hospitalized between 2005-2014 with empyema to whom a computed tomography was perfomed. We recorded patient characteristics, clinical, biological (blood and pleural fluid) and radiological findings, medical and surgical treatments, and clinical, radiological and functional follow-up. Results: 35 children with empyema were included, including 25 with a concomitant NP. Patients with or without NP were undistinguishable, in terms of characteristics, symptoms at admission or detected pathogens. Pleural leucocytes were significantly higher in the empyema group (p=0.0002) as pleural LDH (p=0.002), and pleural/blood LDH ratio (p=0.0005). Medical and surgical managements were similar between both groups. Complications occurred in 1/10 children with empyema alone (pneumotocele) and 5/25 with concomitant NP (bronchopleural fistula (n=3), lobectomy, pneumotho-rax). The hospital length of stay and delay for chest X-ray normalization were similar in both groups. Conclusion: Except for minor biological parameters, the presence of concomitant NP in case of empyema does not change the presentation, clinical features, management and outcome, suggesting that the presence of additional NP to empyema should not be managed differently and that chest CT should probably not be routinely performed to confirm a suspected concomitant NP