Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France

<p>Abstract</p> <p>Background</p> <p>Cystic fibrosis (CF) is an autosomal recessive disorder whose incidence has long been estimated as 1/2500 live births in Caucasians. Expanding implementation of newborn screening (NBS) programs now allows a better monitoring of the disease incidence, what is essential to make reliable predictions for disease management. This study assessed time trends in the birth incidence of CF over a long period (35 years: 1975-2009) in an area where CF is frequent (Brittany, France) and where NBS has been implemented for more than 20 years.</p> <p>Methods</p> <p>This study enrolled CF patients born in Brittany between January 1^st1975 and December 31^st2009 (n = 483). Time trends in incidence were examined using Poisson regression and mainly expressed using the average percent change (APC).</p> <p>Results</p> <p>The average number of patients born each year declined from 18.6 in the late 1970's (period 1975-79) to 11.6 nowadays (period 2005-09). The corresponding incidence rates dropped from 1/1983 to 1/3268, which represented a decline close to 40% between these two periods (APC = -39.3%, 95% CI = -55.8% to -16.7%, p = 0.0020). A clear breakpoint in incidence rate was observed at the end of the 1980's (p < 0.0001). However, the incidence rate has remained quite stable since that time (annual APC = -1.0%, 95% CI = -3.0% to 1.1%, p = 0.3516).</p> <p>Conclusions</p> <p>This study provides an accurate picture of the evolution of the incidence of a genetic disease over a long period and highlights how it is influenced by the health policies implemented. We observed a 40% drop in incidence in our area which seems consecutive to the availability of prenatal diagnosis.</p

Social Deprivation Is Associated With Lower Access to Pre-emptive Kidney Transplantation and More Urgent-Start Dialysis in the Pediatric Population

Introduction Socioeconomic status (SES) is recognized as an important determinant of kidney health. We aimed to evaluate the association of social deprivation with different indicators at kidney replacement therapy (KRT) initiation in the French pediatric metropolitan population. Methods All patients with end-stage kidney disease (ESKD) who started KRT before 20 years old in France between 2002 and 2015 were included. We investigated different indicators at KRT initiation, which are as follows: KRT modality (dialysis vs. pre-emptive transplantation), late referral to a nephrologist, and dialysis modality (hemodialysis [HD] vs. peritoneal dialysis [PD], urgent vs. planned start of dialysis, use of catheter vs. use of fistula for HD vascular access). An ecological index (European Deprivation Index [EDI]) was used as a proxy for social deprivation. Results A total of 1115 patients were included (males 59%, median age at dialysis 14.4 years, glomerular/vascular diseases 36.8%). The most deprived group represented 38.7% of the patients, suggesting pediatric patients with ESKD come from a more socially deprived background. The most deprived group was more likely to initiate KRT with dialysis versus kidney transplantation. Among patients on HD, the odds of starting treatment in emergency with a catheter was >2-fold higher for the most deprived compared with the least deprived children (adjusted odds ratio [aOR] 2.35, 95% CI 1.16–4.78). Conclusion Children from the most deprived area have lower access to pre-emptive transplantation, have lower access to PD, tend to be late referred to a nephrologist, and have more urgent initiation of HD with a catheter

Results of the Ontology Alignment Evaluation Initiative 2021

The Ontology Alignment Evaluation Initiative (OAEI) aims at comparing ontology matching systems on precisely defined test cases. These test cases can be based on ontologies of different levels of complexity and use different evaluation modalities (e.g., blind evaluation, open evaluation, or consensus). The OAEI 2021 campaign offered 13 tracks and was attended by 21 participants. This paper is an overall presentation of that campaign

Results of the Ontology Alignment Evaluation Initiative 2021

The Ontology Alignment Evaluation Initiative (OAEI) aims at comparing ontology matching systems on precisely defined test cases. These test cases can be based on ontologies of different levels of complexity and use different evaluation modalities (e.g., blind evaluation, open evaluation, or consensus). The OAEI 2021 campaign offered 13 tracks and was attended by 21 participants. This paper is an overall presentation of that campaig

Mucoviscidose concomitante à d'autres pathologies (coïncidence ou association?)

La mucoviscidose est la plus fréquente des maladies génétiques chez les caucasiens. L'espérance de vie de ces patients augmentant, ils atteignent l'âge adulte et peuvent présenter d'autres pathologies. Dans notre centre, il a été mis en évidence que certains patients atteints de mucoviscidose développaient d'autres pathologies chroniques ou tumorales. L'objectif de cette thèse est de rechercher des associations similaires dans la littérature et de mettre en évidence l'existence ou non d'un lien entre la mucoviscidose et ces autres pathologies. Dans notre cohorte, nous avons 29 patients ayant les pathologies suivantes: 2 leucémies, 2 neuroblastomes, 1 cancer de la thyroïde, 1 cancer du foie, 1 cancer du caecum, 1 cancer du testicule, 3 spondylarthropathies, 1 arthrite psoriasique, 1 arthropathie d'étiologie inconnue, 1 pathologie osseuse constitutionnelle, 1 polyarthrite rhumatoïde, 1 rhumatisme inflammatoire chronique, 1 syndrome néphrotique idiopathique, 1 amylose, 1 maladie de Crohn, 1 maladie de Steinert, 1 syndrome de Rothmund Thomson, 1 sclérosee en plaques, 1 infirmité motrice cérébrale, 3 cardiomyopathies et 3 péricardites. La mucoviscidose semble augmenter le risque de cancers digestifs et serait un facteur de risque de maladie de Crohn, de maladie coeliaque, de polyarthrite rhumatoïde, de spondylarthropathie et de cardiomyopathie dilatée. La mucoviscidose peut être associée à la cardiomyopathie hypertrophique par l'atteinte génétique d'une protéine commune. Enfin, l'amylose est une complication de la mucoviscidose. La présence d'autres pathologies est vraisemblablement une coïncidence.Cystic fibrosis is the most common genetic disease in Caucasians. The life expectancy of these patients increases, they reach adulthood and may have other diseases. In our center, it has been shown that some patients with cystic fibrosis developed other chronic diseases or tumors. The objective of this thesis is to find similar associations in the literature and highlight the existence of absence of a link between cystic bibrosis and these other diseases. In our cohort, we have 29 patients with the following conditions: 2 leukemia, 2 neuroblastomas, 1 thyroid cancer, one liver cancer, cancer of the caecum 1, 1 testicular cancer, three spondylo-arthropathies, 1 psoriatic arthritis, 1 arthropathy of unknown etiology, 1 constitutional bone disease, 1 rheumatoid arthitis, 1 chronic inflammatory arthritis, 1 idiopathic nephrotic syndrome, 1 amyloidosis, 1 Crohn's disease, 1 myotonic dystrophy, 1 Rothmund Thomson syndrome, 1 multiple sclerosis, 3 cardiomyopathy and 3 pericarditis. Cystics fibrosis appears to increase the risk of digestive cancers and may be a risk factor for Crohn's disease, celiac disease, rheumatoid arthritis, spondyloarthropathy and dilated cardiomyopathy. Cystic fibrosis may be associated to hypertrophic cardiomyopathy by genetic impairment of a common protein. Finally, amyloidosis is a complication of cystic fibrosis. The presence of other diseases is probably a coincidence.RENNES1-BU Santé (352382103) / SudocSudocFranceF

Impact psychologique des faux-positifs du dépistage néonatal systématique de la mucoviscidose

RENNES1-BU Santé (352382103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

La ligne verte départementale "SOS enfants en danger" en Ille-et-Vilaine (analyse des appels depuis son ouverture au sein du CHU de Rennes (d'avril 2001 à décembre 2002))

RENNES1-BU Santé (352382103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Syndrome de l'enfant secoué, étude descriptive sur 5 ans au centre hospitalier universitaire de Rennes

Centre Technique Livre Ens. Sup. (774682301) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

La maltraitance envers les enfants (rappel historique et illustrations littéraires marquantes)

RENNES1-BU Santé (352382103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Contribution à la vaccination contre l'hépatite B

RENNES1-BU Santé (352382103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF