Epidémiologie de la sclérose en plaques en France

En Europe, la France est située entre des zones à haut et bas risque de Sclérose en Plaques (SEP).Nous avons estimé la prévalence de la SEP en France au 31 octobre 2004 et l incidence entre 2000 et 2007 à partir des données de la Caisse Nationale d Assurance Maladie des Travailleurs Salariés (CNAMTS) qui assure 87 % de la population. La SEP, comme d autres maladies chroniques, fait partie des affections de longue durée (ALD). Les variations géographiques de la prévalence et de l incidence ont été analysées par un modèle Bayesien.La prévalence standardisée sur l âge était de 94,7 pour 100 000 ; 130,5 pour les femmes ; 54,8 pour les hommes. Le taux de notification de SEP (2000-2007) standardisé sur la population Européenne était de 6,8 pour 100 000 ; 9,8 parmi les femmes et 3,7 parmi les hommes. Avec le modèle Bayesien, la prévalence était plus forte au nord-est et plus faible dans la région parisienne et sur la Côte d Azur. L incidence était également plus forte au nord-est mais plus faible sur la côte atlantique et de part et d autre du Rhône.A partir des autres ALD, les comorbidités survenant avant l ALD SEP ont été étudiées. Elles étaient rares et essentiellement représentées par les troubles psychiatriques (40,2%) et le diabète (20,3%). Cette étude a été réalisée parmi une population représentative avec une seule et même méthodologie. Le modèle Bayesien prenant en compte l hétérogénéité et l auto-corrélation spatiales ne confirme pas l existence d un gradient net mais des zones à sur ou sous risque. La meilleure connaissance de l épidémiologie de la SEP permettra d avancer sur ses facteurs étiologiques.In Europe, France is located between high and low risk areas of Multiple Sclerosis (MS). We estimated the national prevalence of MS in France on 31st October 2004 and the incidence between 2000 and 2007 based on data from the Caisse Nationale d Assurance Maladie des Travailleurs Salariés which insures 87% of the population. MS like other chronic diseases is one of the 30 long-term illnesses (Affections de Longue Durée, ALD). We analysed geographic variations in the prevalence and incidence of MS in France using the Bayesian approach.Total MS prevalence in France standardised for age was 94.7 per 100,000; 130.5 in women; 54.8 in men. The notification rate for MS (2000-2007) after age-standardisation according to the European population was 6.8 per 100,000; 9.8 in women and 3.7 in men. With a Bayesian approach, the prevalence of MS was higher in northeast and lower in the Paris area and on the Mediterranean coast. The notification rate was higher in northeast and lower on the Atlantic coast and in the Alps as well as on both sides of the Rhône River.The study of other chronic diseases for which ALD status was registered before MS revealed that comorbidities were rare, essentially represented by psychiatric diseases (40.2%) and diabetes (20.3%).This study is performed among a representative population using the same method throughout. The Bayesian approach which takes into account spatial heterogeneity and spatial autocorrelation did not confirm the existence of a clear gradient but only higher or lower areas of MS. The better knowledge of MS epidemiology will allow to venture hypothesis its etiological factors.DIJON-BU Doc.électronique (212319901) / SudocSudocFranceF

Ocular manifestations in congenital toxoplasmosis

Background: Retinochoroiditis is the most common ocular manifestation of congenital toxoplasmosis, but other associated ophthalmological pathologies can also occur. The aim of this study was to determine the nature of the latter in treated cases of the disease and to assess their impact on visual function. Methods: Four hundred and thirty consecutive children with serologically confirmed congenital toxoplasmosis were included in this study. Data were prospectively collected using standardized ophthalmological assessment forms. The presence of retinochoroiditis and of associated pathologies was ascertained, and their impact on visual function was assessed. Results: After a median follow-up of 12 years [range 0.6-26 years], 130 children manifested retinochoroiditis. We detected 22 foci of retinochoroiditis at birth and 264 additional ones during the follow-up period. Of these, 48 (17%) were active when first diagnosed. Twenty-five of the 130 children (19%) had other associated ocular pathologies. Of these, 21 (16%) had a strabismus, which was due to macular lesions in 86% of the cases; 7 (5.4%) presented with unilateral microphthalmia, and 4 (3%) with cataracts. Most of these events were detected after the onset of retinochoroiditis. None of the children presented with ocular involvement in the absence of chorioretinal lesions. Macular lesions occurred more frequently in children with associated pathologies (p<0.0001), and associated pathologies were likewise more common in individuals with macular lesions (p=0.0003). Visual impairment occurred in 31/130 cases, and in all but 3 of these eyes it was due not to an associated pathology but to macular retinochoroiditis. Conclusions: At the end of the follow-up period, ocular involvement existed in 30% of the treated children with congenital toxoplasmosis. Associated eye pathologies were manifested less frequently than anticipated. They may occur later in life and are an indirect marker of the severity of congenital toxoplasmosis, but they do not have a direct impact on visual acuity. The overall functional prognosis of congenital toxoplasmosis is better than would be expected on the basis of literature findings, with only 2 of the 130 children suffering bilateral visual impairmen

Facteurs cliniques périnatals et paramètres biologiques prédictifs du pronostic chez l'enfant prématuré

L objectif de ce travail était de décrire les facteurs biologiques précoces influençant le pronostic des enfants grands prématurés. A partir d une population de 1 067 enfants admis en réanimation néonatale au CHU de Dijon de 2001 à 2008 et faisant l objet d un recueil prospectif de données clinico-biologiques périnatales, deux objectifs de recherche ont été identifiés : 1) évaluer l impact des troubles de la chlorémie au cours de l adaptation postnatale sur la morbidité neurologique; 2) caractériser la possible association entre l hypoprotidémie du premier jour de vie(J1) et le pronostic défavorable. Ces objectifs ont été approfondis dans 4 études, réalisées sur la population initiale et sur 3 autres cohortes de grands prématurés. Nous avons observé que l hyperchlorémie entraine une acidose métabolique sévère dans les 7 à 10 premiers jours de vie sans que ceci ne s associe à un pronostic neurologique défavorable (hémorragie intraventriculaire et/ou paralysie cérébrale à 18 mois d âge corrigé). Les résultats ont montré l importance de contrôler les apports de chlore des médicaments et de la nutrition parentérale, afin de prévenir toute acidose métabolique indésirable après la naissance. Les études sur la protidémie ont montré que l hypoprotidémie à J1 est un facteur indépendant associé au décès ou à la survie avec anomalies neurologiques sévères et que son pouvoir prédictif de pronostic défavorable est comparable à celui d autres scores de gravité validés. Ce travail contribue à la compréhension des facteurs périnatals influençant le pronostic du grand prématuré et ouvre de nouvelles perspectives de recherche sur la prise en charge de ces enfants vulnérables.Our aim was to identify early biochemical abnormalities associated with adverse outcome in very preterm infants. Based on an 8-year population-study for assessing the outcome in 1067 very preterm babies admitted to the neonatal intensive care unit of Dijon university hospital, two research axes were explored: 1) the impact of plasma chloride abnormalities on neurological morbidities; 2) the association between hypoproteinemia on the first day of life (D1) and adverse outcome. These issues were assessed by 4 studies, performed on the initial population and on 3 other cohorts.We found that hyperchloremia results in severe metabolic acidosis during the first 7-10 days of life, but this is not associated with adverse neurological outcome (intraventricular haemorrhage and/or cerebral palsy at 18 months of corrected age). The tight control of chloride intake by parenteral nutrition or inadvertent administration represents a good means for lowering the incidence of metabolic acidosis after birth.We also showed that hypoproteinemia (D1) has prognostic value for impaired outcome (death or survival with severe cerebral ultrasound findings) and that total plasma protein has a predictive performance comparable with other validated illness severity scores. These results provide additional insight into factors influencing mortality and morbidity for preterm babies. Our findings raise the interest in addressing the above issues in future investigations on: 1) pathophysiological mechanisms underlying the association between biological abnormalities and impaired outcome, 2) their possible therapeutic implications and 3) the development of new severity scores for very preterm babies.DIJON-BU Doc.électronique (212319901) / SudocSudocFranceF

Impact of whole-body computed tomography on mortality and surgical management of severe blunt trauma

International audienceIntroductionThe mortality benefit of whole-body computed tomography (CT) in early trauma management remains controversial and poorly understood. The objective of this study was to assess the impact of whole-body CT compared with selective CT on mortality and management of patients with severe blunt trauma.MethodsThe FIRST (French Intensive care Recorded in Severe Trauma) study is a multicenter cohort study on consecutive patients with severe blunt trauma requiring admission to intensive care units from university hospital trauma centers within the first 72 hours. Initial data were combined to construct a propensity score to receive whole-body CT and selective CT used in multivariable logistic regression models, and to calculate the probability of survival according to the Trauma and Injury Severity Score (TRISS) for 1,950 patients. The main endpoint was 30-day mortality.ResultsIn total, 1,696 patients out of 1,950 (87%) were given whole-body CT. The crude 30-day mortality rates were 16% among whole-body CT patients and 22% among selective CT patients (p = 0.02). A significant reduction in the mortality risk was observed among whole-body CT patients whatever the adjustment method (OR = 0.58, 95% CI: 0.34-0.99 after adjustment for baseline characteristics and post-CT treatment). Compared to the TRISS predicted survival, survival significantly improved for whole-body CT patients but not for selective CT patients. The pattern of early surgical and medical procedures significantly differed between the two groups.ConclusionsDiagnostic whole-body CT was associated with a significant reduction in 30-day mortality among patients with severe blunt trauma. Its use may be a global indicator of better management

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

International audienceSHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had 4 or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included IUGR \textless 10(th) percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Background : In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of patients with RD. Since 2007, most of these centers have entered the data for patients with developmental disorders into the CEMARA population-based registry, a national online data repository for all rare diseases. Through the CEMARA web portal, descriptive demographic data, clinical data, and the chronology of medical follow-up can be obtained for each center. We address the interest and ongoing challenges of this national data collection system 10 years after its implementation. Methods : Since 2007, clinicians and researchers have reported the “minimum dataset (MDS)” for each patient presenting to their expert center. We retrospectively analyzed administrative data, demographic data, care organization and diagnoses. Results : Over 10 years, 228,243 RD patients (including healthy carriers and family members for whom experts denied any suspicion of RD) have visited an expert center. Among them, 167,361 were patients affected by a RD (median age 11 years, 54% children, 46% adults, with a balanced sex ratio), and 60,882 were unaffected relatives (median age 37 years). The majority of patients (87%) were seen no more than once a year, and 52% of visits were for a diagnostic procedure. Among the 2,869 recorded rare disorders, 1,907 (66.5%) were recorded in less than 10 patients, 802 (28%) in 10 to 100 patients, 149 (5.2%) in 100 to 1,000 patients, and 11 (0.4%) in > 1,000 patients. Overall, 45.6% of individuals had no diagnosis and 6.7% had an uncertain diagnosis. Children were mainly referred by their pediatrician (46%; n = 55,755 among the 121,136 total children referrals) and adults by a medical specialist (34%; n = 14,053 among the 41,564 total adult referrals). Given the geographical coverage of the centers, the median distance from the patient’s home was 25.1 km (IQR = 6.3 km-64.2 km). Conclusions : CEMARA provides unprecedented support for epidemiological, clinical and therapeutic studies in the field of RD. Researchers can benefit from the national scope of CEMARA data, but also focus on specific diseases or patient subgroups. While this endeavor has been a major collective effort among French RD experts to gather large-scale data into a single database, it provides tremendous potential to improve patient care

Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future

Purpose Age-related macular degeneration (AMD) is a frequent, complex disorder in elderly of European ancestry. Risk profiles and treatment options have changed considerably over the years, which may have affected disease prevalence and outcome. We determined the prevalence of early and late AMD in Europe from 1990 to 2013 using the European Eye Epidemiology (E3) consortium, and made projections for the future. Design Meta-analysis of prevalence data. Participants A total of 42 080 individuals 40 years of age and older participating in 14 population-based cohorts from 10 countries in Europe. Methods AMD was diagnosed based on fundus photographs using the Rotterdam Classification. Prevalence of early and late AMD was calculated using random-effects meta-analysis stratified for age, birth cohort, gender, geographic region, and time period of the study. Best-corrected visual acuity (BCVA) was compared between late AMD subtypes; geographic atrophy (GA) and choroidal neovascularization (CNV). Main Outcome Measures Prevalence of early and late AMD, BCVA, and number of AMD cases. Results Prevalence of early AMD increased from 3.5% (95% confidence interval [CI] 2.1%–5.0%) in those aged 55–59 years to 17.6% (95%

Etude de l'impact d'une période d'observation à nombre de transitions restreints sur la stabilité des modèles multi-états (exemple de l'effet de l'âge sur la reprise évolutive et la survie dans le cancer du côlon)

Résumé françaisDIJON-BU Médecine Pharmacie (212312103) / SudocSudocFranceF

Analyse coût-efficacité des stratégies de gestion du risque de cancer pulmonaire induit par le radon en Franche-Comté

BESANCON-BU Médecine pharmacie (250562102) / SudocSudocFranceF

Prévention au premier trimestre de la grossesse : perspective des professionnels

International audienc