Association between the retinal vascular network, cardiovascular history and risk factors in the elderly
IF 3.157; International audience; PurposeTo identify patterns summarizing the retinal vascular network in the elderly and to investigate the relationship of these vascular patterns with cardiovascular history.MethodsWe conducted a population-based study, the Montrachet study (Maculopathy Optic Nerve nuTRition neurovAsCular and HEarT diseases), in participants older than 75 years. History of cardiovascular disease and a score-based estimation of their 10-year risk of cardiovascular mortality (Heart SCORE) were collected. Retinal vascular network analysis was performed by means of Singapore “I” Vessel Assessment (SIVA) software. Principal component analysis was used to condense the informatio…
Rural–urban inequalities in detection rates of colorectal tumours in the population
Abstract Background Because few data are available on this topic, we investigated the influence of geographical determinants on colorectal adenoma detection and cancer incidence rates. Methods Between 1990 and 1999, 6220 Cote d’Or inhabitants (France) were first-diagnosed with a colorectal adenoma, and 2389 with an invasive adenocarcinoma. The impact of the rural–urban place of residence and of a physician location in municipalities on adenoma and cancer detection rates was studied using Poisson regression. Results World-standardized adenoma detection rate was significantly higher in urban areas (102 [95%CI: 97–107]) than in rural areas (78 [95%CI: 72–84]). The impact of the absence of phys…
High Plasma Concentration of Non-Esterified Polyunsaturated Fatty Acids Is a Specific Feature of Severe COVID-19 Pneumonia
Background: The pathogenesis of severe COVID-19 is frequently associated with an uncontrolled inflammatory response. Severe forms of COVID-19 appear to be more frequent in obese patients, but an association with metabolic disorders is not established. Here, we focused on lipoprotein metabolism in patients hospitalized for severe pneumonia, depending on COVID-19 status. Methods: Thirty-four non-COVID-19 and 27 COVID-19 patients with severe pneumonia were enrolled. Most of them required intensive care. Plasma lipid levels, lipoprotein metabolism, and clinical and biological features were assessed. Findings: Despite similar initial metabolic comorbidities and respiratory severity, COVID-19 pat…
Les modifications de pratique clinique liées à l’arrivée du séquençage haut débit dans le diagnostic génétique des maladies du développement
Abstract Introduction The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two questions have been raised: the representations of HTS among geneticists and the costs incurred due to these analyses. Methods Geneticists attending a clinical genetics seminar were invited to complete a questionnaire. The statistical analysis was essentially descriptive and an analysis of costs was undertaken. Results Of those responding to the questionnaire, 48% had already prescribed exome analysis and 25% had already had the occasion …
Coûts de la sclérose en plaques en France
Multiple sclerosis (MS) is one of the 30 chronic conditions specifically listed by the French healthcare system as a long-term disease (affections de longue duree [ALD]) for which the main health insurance fund (Caisse nationale d'assurance maladie des travailleurs salaries [CNAMTS]) provides full (100%) coverage of healthcare costs. The CNAMTS insures 87% of the French population (52,359,912 of the 60,028,292 inhabitants). The objectives of this study were to evaluate the direct and indirect medical costs of MS among the entire population insured by the CNAMTS in France in 2004. The CNAMTS provided us with access to the ALD database of patients with MS that contains different MS-related ex…
Pertinence et méthodes pour la conduite d'un essai de supériorité médico-économique en cancérologie
L’existence de ressources economiques limitees et le souci d’allouer, au mieux, a la collectivite, les budgets disponibles, incitent a mener des essais dont le critere de jugement principal pourrait etre un critere medico-economique. Dans le champ de la cancerologie, l’institution de pauses therapeutiques et/ou la diminution de la frequence d’administration des chimiotherapies induit au prealable de s’assurer de la non-inferiorite de l’efficacite de tels schemas. Un autre objectif sous-jacent pourrait etre la demonstration de leur superiorite medico-economique. Dans ce contexte, les essais medico-economiques dont le critere de jugement principal est un critere composite, base sur le cout et…
MEN1 Disease Occurring Before 21 Years Old: A 160-Patient Cohort Study From the Groupe d'étude des Tumeurs Endocrines
Multiple endocrine neoplasia Type-1 (MEN1) in young patients is only described by case reports.To improve the knowledge of MEN1 natural history before 21 years old.Obtain a description of the first symptoms occurring before 21 years old (clinical symptoms, biological or imaging abnormalities), surgical outcomes related to MEN1 Neuro Endocrine Tumors (NETs) occurring in a group of 160 patients extracted from the "Groupe d'étude des Tumeurs Endocrines" MEN1 cohort.The first symptoms were related to hyperparathyroidism in 122 cases (75%), pituitary adenoma in 55 cases (34%), nonsecreting pancreatic tumor (NSPT) in 14 cases (9%), insulinoma in 20 cases (12%), gastrinoma in three cases (2%), mal…
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …
Post-Stroke Cognitive Impairment: High Prevalence and Determining Factors in a Cohort of Mild Stroke
BACKGROUND Because of the aging population and a rise in the number of stroke survivors, the prevalence of post-stroke cognitive impairment (PSCI) is increasing. OBJECTIVE To identify the factors associated with 3-month PSCI. METHODS All consecutive stroke patients without pre-stroke dementia, mild cognitive disorders, or severe aphasia hospitalized in the Neurology Department of Dijon, University Hospital, France (November 2010 - February 2012) were included in this prospective cohort study. Demographics, vascular risk factors, and stroke data were collected. A first cognitive evaluation was performed during the hospitalization using the Mini-Mental State Exam (MMSE) and the Montreal Cogni…
A decision tree to help determine the best timing and antiretroviral strategy in HIV-infected patients.
SUMMARYOptimal antiretroviral strategies for HIV-infected patients still need to be established. To this end a decision tree including different antiretroviral strategies that could be adopted for HIV-infected patients was built. A 10-year follow-up was simulated by using transitional probabilities estimated from a large cohort using a time-homogeneous Markov model. The desired outcome was for patients to maintain a CD4 cell count of >500 cells/mm3without experiencing AIDS or death. For patients with a baseline HIV viral load ⩾5 log10copies/ml, boosted protease inhibitor-based immediate highly active antiretroviral therapy (HAART) allowed them to spend 12% more time with CD4 ⩾500/mm3than…
Analysis of the vitreomacular interface in a French population-based study (The MONTRACHET study: Maculopathy, Optic Nerve, nuTRition, neurovAsCular and HEarT diseases)
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
International audience; Multiple endocrine neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Although genotype-phenotype studies have so far failed to identify any statistical correlations, some families harbor recurrent tumor patterns. The function of MENIN is unclear, but has been described through the discovery of its interacting partners. Mutations in the interacting domains of MENIN functional partners have been shown to directly alter its regulation abilities. We report on a cohort of MEN1 patients from the Groupe d'étude des Tumeurs Endocrines. Patients with a…
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
International audience; BACKGROUND:The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.METHODS:Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics.RESULTS:97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, wit…
Séroconversion toxoplasmique chez la femme enceinte
Resume Introduction La France possede depuis 1992 un programme de prevention de la toxoplasmose reposant sur la detection serologique des infections en cours de grossesse. En l’absence de consensus, les seroconversions depistees sont prises en charge de facon variable selon les centres. Objectif Decrire les pratiques des centres experts francais et faire des propositions pour reduire leur heterogeneite. Methode Enquete postale par questionnaire aupres des centres de parasitologie francais de reference pour la prise en charge des seroconversions toxoplasmiques en cours de grossesse. Resultats La totalite des 30 centres interroges ont repondu. Cinq d’entre eux ne font pas de recommandations t…
Essais cliniques institutionnels : quel monitoring ?
Resume Objectif Les promoteurs assument la responsabilite de la qualite des essais cliniques. Ces methodes d’assurance qualite doivent etre les plus efficaces possible, et avoir un cout maitrise. Nous voulions decrire les erreurs les plus frequentes, a partir de la litterature, leur impact sur les resultats, et proposer les strategies de monitoring les plus efficientes. Resultats Les defauts rencontres concernent la conception, les procedures, la gestion des donnees et l’analyse. L’impact sur les resultats est presque toujours une surestimation de l’effet traitement. Aucune methode de monitoring n’ayant ete demontree superieure, un monitoring econome, cible sur les risques d’erreurs, avec d…
Medical pre-hospital management reduces mortality in severe blunt trauma: a prospective epidemiological study
International audience; INTRODUCTION: Severe blunt trauma is a leading cause of premature death and handicap. However, the benefit for the patient of pre-hospital management by emergency physicians remains controversial because it may delay admission to hospital. This study aimed to compare the impact of medical pre-hospital management performed by SMUR (Service Mobile d'Urgences et de Réanimation) with non-medical pre-hospital management provided by fire brigades (non-SMUR) on 30-day mortality. METHODS: The FIRST (French Intensive care Recorded in Severe Trauma) study is a multicenter cohort study on consecutive patients with severe blunt trauma requiring admission to university hospital i…
Empirical study of the dependence of the results of multivariable flexible survival analyses on model selection strategy
Flexible survival models, which avoid assumptions about hazards proportionality (PH) or linearity of continuous covariates effects, bring the issues of model selection to a new level of complexity. Each ‘candidate covariate’ requires inter-dependent decisions regarding (i) its inclusion in the model, and representation of its effects on the log hazard as (ii) either constant over time or time-dependent (TD) and, for continuous covariates, (iii) either loglinear or non-loglinear (NL). Moreover, ‘optimal’ decisions for one covariate depend on the decisions regarding others. Thus, some efficient model-building strategy is necessary. We carried out an empirical study of the impact of the model …
Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management
SHORT 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 unive…
Prevalence of dry eye disease in elderly individuals of the French population (the MONTRACHET Study)
Purpose To report the prevalence of dry eye in a large population-based sample of French individuals older than 75 years. Methods About 9000 individuals 65 years and older were included in the 3C cohort study since 1999 in 3 French cities (Bordeaux, Dijon and Montpellier). In Dijon, an additional ophthalmic examination was performed 10 years after the initial inclusions to assess the relation between systemic age-related diseases and eye diseases in the MONTRACHET Study (Maculopathy Optic Nerve nuTRition neurovAsCular and HEarT diseases). Dry eye symptoms were collected with self reported history of dry eye symptoms, use of topical medications and evaluated by the Ocular Surface Disease Ind…
Is the pelvis-thorax coordination a valuable outcome instrument to assess patients with Hip osteoarthritis?
Objective: The evaluation of the disease severity in hip osteoarthritis (OA) patients being currently based on subjective instruments. It would be of interest to develop more objective instruments, for example based on gait analysis. The aims of this study were to explore if pelvis-thorax coordination parameters could be valuable instrument outcomes to achieve this evaluation by assessing their reliability, discriminant capacity and responsiveness. Methods: Three groups of subjects; healthy, hip OA patients with severe disease (defined as indication to surgery), hip OA patients with less severe disease (no indication to surgery) were included. Hip OA patients with severe disease were evalua…
Treatment of acute hepatitis C in human immunodeficiency virus-infected patients: The HEPAIG study
Acute hepatitis C continues to be a concern in men who have sex with men (MSM), and its optimal management has yet to be established. In this study, the clinical, biological, and therapeutic data of 53 human immunodeficiency virus (HIV)-infected MSM included in a multicenter prospective study on acute hepatitis C in 2006-2007 were retrospectively collected and analyzed. The mean hepatitis C virus (HCV) viral load at diagnosis was 5.8 ± 1.1 log10 IU/mL (genotype 4, n = 28; genotype 1, n = 14, genotype 3, n = 7). The cumulative rates of spontaneous HCV clearance were 11.0% and 16.5% 3 and 6 months after diagnosis, respectively. Forty patients were treated, 38 of whom received pegylated interf…
Total plasma protein in very preterm babies: prognostic value and comparison with illness severity scores
International audience; OBJECTIVE: We aimed to investigate the predictive value for severe adverse outcome of plasma protein measurements on day one of life in very preterm infants and to compare total plasma protein levels with the validated illness severity scores CRIB, CRIB-II, SNAP-II and SNAPPE-II, regarding their predictive ability for severe adverse outcome. METHODS: We analyzed a cohort of infants born at 24-31 weeks gestation, admitted to the tertiary intensive care unit of a university hospital over 10.5 years. The outcome measure was "severe adverse outcome" defined as death before discharge or severe neurological injury on cranial ultrasound. The adjusted odd ratio (aOR) and 95%…
Correction to: The dysregulated innate immune response in severe COVID-19 pneumonia that could drive poorer outcome
Although immune modulation is a promising therapeutic avenue in coronavirus disease 2019 (COVID-19), the most relevant targets remain to be found. COVID-19 has peculiar characteristics and outcomes, suggesting a unique immunopathogenesis.Thirty-six immunocompetent non-COVID-19 and 27 COVID-19 patients with severe pneumonia were prospectively enrolled in a single center, most requiring intensive care. Clinical and biological characteristics (including T cell phenotype and function and plasma concentrations of 30 cytokines) and outcomes were compared.At similar baseline respiratory severity, COVID-19 patients required mechanical ventilation for significantly longer than non-COVID-19 patients …
Factors influencing inclusion in digestive cancer clinical trials: A population-based study
Inclusion in a randomized therapeutic trial represents an optimal therapeutic strategy.To determine the influence of demographic characteristics and deprivation on the enrolment of patients in digestive cancer clinical trials.Between 2004 and 2010, 4632 patients were recorded by the Burgundy Digestive Cancer Registry. According to a balancing score, the 136 patients included in a clinical trial were matched with 272 patients who met the eligibility criteria for trials. Deprivation was measured by the ecological European deprivation index. A conditional multivariate logistic regression was performed.Patients aged over 75 years were significantly less likely to be included in clinical trials …
Sperm imprinting integrity in seminoma patients?
IF 4.990; International audience; BackgroundTesticular germ cell tumor such as seminoma is strongly associated with male reproductive problems commonly associated with the alteration of sperm parameters as described in testicular dysgenesis syndrome. Interestingly, numerous studies have reported that the precursor of germ cell cancer, germ cell neoplasia in situ (GCNIS), present similarities to fetal gonocytes, specifically characterized by global DNA hypomethylation particularly on imprinting sequences. These disorders may have a common origin derived from perturbations of embryonal programming during fetal development. Presently, there is no available information concerning the sperm DNA …
Disparités du taux de détection des adénomes colorectaux en fonction du lieu de domicile et de la distance aux médecins en Côte-d’Or, entre 1990 et 1999
Vaccination Against Hepatitis B Virus (HBV) in HIV-1-Infected Patients With Isolated Anti-HBV Core Antibody: The ANRS HB EP03 CISOVAC Prospective Study.
International audience; Although an isolated anti-hepatitis B virus (HBV) core antibody (anti-HBc) serological profile is frequent in human immunodeficiency virus (HIV)-infected patients, data on HBV vaccination in these patients are scarce. A prospective multicenter study was conducted to assess the immunogenicity of HBV vaccination in 54 patients with an isolated anti-HBc profile and undetectable HIV load. They were vaccinated with 1 dose (20 µg) of recombinant HBV vaccine. Those with an anti-HBV surface antibody (anti-HBs) level of 100 mIU/mL 4 weeks after a single recall dose of HBV vaccine should be further vaccinated with a reinforced triple double-dose scheme.
The cost-effectiveness of neonatal versus prenatal screening for congenital toxoplasmosis
BackgroundCongenital Toxoplasmosis (CT) can have severe consequences. France, Austria, and Slovenia have prenatal screening programs whereas some other countries are considering universal screening to reduce congenital transmission and severity of infection in children. The efficiency of such programs is debated increasingly as seroprevalence among pregnant women and incidence of congenital toxoplasmosis show a steady decrease. In addition, uncertainty remains regarding the effectiveness of pre- and postnatal treatments.MethodTo identify cost-effective strategies, prenatal and neonatal screenings were compared using a decision-analytic model based on French guidelines and current knowledge …
Impact pronostique de la concentration de 3-hydroxymyristate sur la survie des patients atteints de cirrhose alcoolique ou virale
Etat de la question Le role de l’endotoxemie liee a la translocation bacterienne sur l’aggravation de la cirrhose fait l’objet de nombreuses etudes, mais son impact sur la mortalite au cours de la cirrhose est mal connu. Le but de ce travail etait d’etudier l’impact de la concentration sanguine de 3-hydroxymyristate (3-HM) total (composant specifique des lipopolysaccharides, endotoxine), sur le risque de deces et de complications des malades cirrhotiques. Materiel et methodes Au total, 593 patients atteints de cirrhose alcoolique ou virale, sans carcinome hepatocellulaire ont ete inclus entre 2008 et 2012 dans six centres hospitalo-universitaires francais. Le dosage de 3-HM total, libre et …
Multi-state relative survival modelling of colorectal cancer progression and mortality.
Abstract Accurate identification of factors associated with progression of colorectal cancer remains a challenge. In particular, it is unclear which statistical methods are most suitable to separate the effects of putative prognostic factors on cancer progression vs cancer-specific and other cause mortality. To address these challenges, we analyzed 10 year follow-up data for patients who underwent curative surgery for colorectal cancer in 1985–2000. Separate analyses were performed in two French cancer registries. Results of three multivariable models were compared: Cox model with recurrence as a time-dependent variable, and two multi-state models, which separated prognostic factor effects …
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.
International audience; BACKGROUND: The diagnosis of Marfan syndrome (MFS) is usually initially based on clinical criteria according to the number of major and minor systems affected following international nosology. The number of FBN1 mutation carriers, at risk of aortic complications who would not be properly diagnosed based only on clinical grounds, is of growing importance owing to the increased availability of molecular screening. The aim of the study was to identify patients who should be considered for FBN1 mutation screening. METHODS: Our international series included 1009 probands with a known FBN1 mutation. Patients were classified as either fulfilling or not fulfilling "clinical"…
Hypoproteinemia on the first day of life and adverse outcome in very preterm infants admitted to the neonatal intensive care unit
International audience; OBJECTIVE: We aimed to investigate the relationship between day-1 hypoproteinemia and severe adverse outcome (SAO) in very preterm infants admitted to the neonatal intensive care unit (NICU). STUDY DESIGN: Retrospective study of all patients born from 24 to 31 weeks gestation and cared for in our NICU over an 8-year period. Infants were excluded if the serum protein value on the first day of life was not available. RESULT: A total of 913 patients were included. In all, 14.6% presented with SAO (death or severe neurological injury on cranial ultrasound). Hypoproteinemia (total protein level \textless40 g l(-1)) on day 1 of life occurred in 19.5 % of all patients. The …
Dose-response relationship in the context of a maintenance randomized control trial: reanalysis of the PRODIGE 9 trial
Introduction The dose-response relationship is considered as one of the major criteria when the causality of a relationship between an exposure and an outcome is discussed. This criterion is mainly studied in observational studies but may be also of interest in Randomized Controlled Trial (RCT), particularly if the administered dose of treatment varies over time and between patients. Maintenance trials with a long follow-up meet these characteristics. We reanalyzed a maintenance trial in digestive oncology (PRODIGE 9 trial) in order to explore the dose-response relationship between the maintenance treatment and overall survival (OS). Methods The PRODIGE 9 study was a maintenance trial asses…
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.
Down syndrome (DS) is a genetic neurodevelopmental disorder. In individuals with DS, a multidisciplinary approach to care is required to prevent multiple medical complications. The aim of this study was to describe the rehabilitation, medical care, and educational and social support provided to school-aged French DS patients with varying neuropsychological profiles. A mixed study was conducted. Quantitative data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Qualitative data were collected by semi-structured face-to-face interviews and focus groups. Ninety-five DS subjects with a mean age of 10.9 years were included. Sixt…
Tocilizumab en association à la prednisone au cours des 3 premiers mois de traitement de l’artérite à cellules géantes : résultats d’une étude prospective, multicentrique de phase II (PHRC National HORTOCI)
Introduction L’arterite a cellules geantes (ACG) est une vascularite des gros vaisseaux habituellement traitee par corticoides. Ce traitement est remarquablement efficace mais doit etre donne a forte dose pendant 12 a 24 mois, ce qui est responsable d’une importante morbi-mortalite dans cette population âgee. Le tocilizumab (TCZ) est un anticorps monoclonal humanise dirige contre les recepteurs (soluble et membranaire) de l’interleukine-6 (IL-6). Son efficacite a recemment ete montree au cours du traitement de l’ACG [1] . Cependant, les donnees concernant l’evolution apres l’arret du TCZ manquaient dans cet essai therapeutique. De plus, la duree optimale de ce traitement couteux n’est pas c…
Evaluation de stratégies de prévention de la toxoplasmose congénitale : revue critique des études médico-économiques
International audience
Flexible statistical models provided new insights into the role of quantitative prognostic factors for mortality in gastric cancer.
Abstract Objectives To reassess the effects of prognostic factors on mortality in gastric cancers, and to illustrate the advantages of flexible modeling. Study Design and Setting A prospective population-based cohort of persons diagnosed with gastric cancers in 1976 to 1995 in Burgundy, France, was followed for 5 years since diagnosis. Multivariable survival analyses, stratified by cancer stage, involved both conventional Cox's model and its flexible generalization, which permitted testing the underlying assumptions and accounting for changes over time in the effects of prognostic factors. Results Conventional assumptions of proportional hazards (PH) (P = 0.003) and linear increase in risk …
Manuel de bonnes pratiques professionnelles des centres d’investigation clinique
Resume Les centres d’investigation clinique (CIC) sont des structures de recherche clinique academiques appartenant a un reseau national, coordonne par l’Institut national de la sante et de la recherche medicale (Inserm) et la Direction generale de l’offre de soins (DGOS), comportant des groupes de travail et des reseaux thematiques. Le groupe « Harmonisation des procedures des CIC » (HPCIC) a elabore un manuel de bonnes pratiques professionnelles, presente dans cet article. Le manuel a ete elabore par consensus, relu par les coordonnateurs des CIC, des experts externes, et valide par des representants des deux tutelles Inserm et DGOS. Le manuel de bonnes pratiques professionnelles des CIC …
Are the recommendations of the French consensus conference on the management of colon cancer followed up?
The aim of this study was to determine how the guidelines published after this conference have spread. Pretherapeutic evaluation and treatment were assessed for all colon cancers diagnosed in a well-defined French population in 2000. Patients were classified either as managed according to the recommendations, or as undermanaged or overmanaged. Outside the emergency context, pretherapeutic work-up was classified as in conformity with the consensus in 48.0% of the cases, as undervalued in 21.9% and as overvalued in 30.1%. The resection rate at 90% was not far from the optimum. Pathological data allowed us to classify nearly all cases according to the tumour node metastasis classification; how…
Impact psychologique de la pandémie de COVID-19 sur les soignants en réanimation
Alors que l’infection à SARS-COV-2 s’est rapidement propagée au niveau mondial, on a assisté à une mobilisation massive des soignants auprès des personnes infectées. En réanimation, les conditions de travail déjà habituellement difficiles se sont durcies, avec une augmentation forte de la charge de travail, une nécessaire et indispensable réorganisation des soins, des décisions complexes relatives à l’admission des patients et une modification de l’accueil des familles. Le tout dans un climat d’incertitude générale et d’insécurité personnelle. Cet article propose une mise au point sur l’impact psychologique de cette crise sur les soignants en réanimation et les possibles dispositifs d’accom…
The montrachet study
National audience; Summary The Montrachet Study (Maculopathy Optic Nerve nuTRition neurovAsCular and HEarT diseases) is a population‐based derived from the 3C Study performed in Dijon. In 2009–2011, 1153 participants from the 3 Cities Study, aged 75 years or more, had an initial eye examination. Apart from the old age of this population, the main interest is that information on cardiovascular and neurologic diseases and a large comprehensive database (blood samples, genetic testing, cognitive tests, MRI) were available. Our first results showed us that despite the high prevalence of self‐reported eye diseases in this elderly population, visual impairment was low and increased with age. Thes…
Intraocular pressure and central corneal thickness in an old French population: The MONTRACHET study
Purpose: To describe the distribution of intraocular pressure (IOP) and central corneal thickness (CCT) in an old French population. Methods: About 9000 individuals 65 years and older were included in the 3C cohort study since 1999 in 3 French cities (Bordeaux, Dijon and Montpellier). In Dijon, an additional ophthalmic examination was performed 10 years after the initial inclusions to assess the relation between systemic age-related diseases and eye diseases in the MONTRACHET Study (Maculopathy Optic Nerve nuTRition neurovAsCular and HEarT diseases). In this population-based stuy a thorough eye examination and a questionnaire were undertaken in each participant. Intraocular pressure (IOP) w…
Specific Features of the Coagulopathy Signature in Severe COVID-19 Pneumonia
Rationale: COVID-19 displays distinct characteristics that suggest a unique pathogenesis. The objective of this study was to compare biomarkers of coagulopathy and outcomes in COVID-19 and non-COVID-19 patients with severe pneumonia.Methods: Thirty-six non-COVID-19 and 27 COVID-19 non-immunocompromised patients with severe pneumonia were prospectively enrolled, most requiring intensive care. Clinical and biological characteristics (including plasma biomarkers of coagulopathy) were compared.Results: At similar baseline severity, COVID-19 patients required mechanical ventilation (MV) for significantly longer than non-COVID-19 patients (p = 0.0049) and more frequently developed venous thrombot…
Estimation of National Colorectal-Cancer Incidence Using Claims Databases
Background.The aim of the study was to assess the accuracy of the colorectal-cancer incidence estimated from administrative data.Methods.We selected potential incident colorectal-cancer cases in 2004-2005 French administrative data, using two alternative algorithms. The first was based only on diagnostic and procedure codes, whereas the second considered the past history of the patient. Results of both methods were assessed against two corresponding local cancer registries, acting as “gold standards.” We then constructed a multivariable regression model to estimate the corrected total number of incident colorectal-cancer cases from the whole national administrative database.Results.The firs…
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
IF 2.004 (2017); International audience; With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate. A review of the literature was performed, focusing on all PubMed articles repo…
Impact of whole-body computed tomography on mortality and surgical management of severe blunt trauma
International audience; IntroductionThe 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…
Subretinal drusenoid deposits in the elderly in a population-based study (the Montrachet study: Maculopathy, Optic Nerve, nuTRition, neurovAsCular and HEarT diseases)
International audience
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
Objectives Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult. Prenatal diagnosis (PND) and preimplantation genetic diagnosis are technically feasible when a causal mutation is identified, but both raise many ethical questions in this condition. Little is known about opinions and practices in such reproductive issues in MFS. The goal of this study was to report on patients' points of view and geneticists' standard practices. Methods Two different questionnaires were produced. Results Fifty geneticists fil…
Traitement du cancer de la prostate : comment les patients font-ils leur choix ?
Resume Le cancer de la prostate demeure un probleme de sante publique en France chez les hommes de 50 a 70 ans. Pour le cancer localise de la prostate de bon pronostic ou de pronostic intermediaire, il existe une pluralite de possibilites therapeutiques. Objectif. Identifier, dans le discours des patients, les mecanismes et les logiques intervenant dans la decision therapeutique. Methode. etude qualitative aupres de 15 hommes âges de 53 a 70 ans, traites pour un cancer de la prostate de stade precoce, par entretiens abordant l’itineraire diagnostique, la representation et le vecu de la maladie, les facteurs decisionnels en matiere de traitement. Resultats. Les hommes ont elabore leur choix …
Are Adiponectin and Leptin Good Predictors of Surgical Infection after Colorectal Surgery? A Prospective Study
Infections are the most frequent complication after colorectal surgery. It has been suggested that adipose tissue metabolism could be related to the risk of post-operative infection, but this could be partially related to the body-mass index. The aim of this study was to look for a relation between adipocytokine levels and the risk of post-operative infection and its type.This prospective cohort study was conducted between March 2013 and March 2014 in two French teaching hospitals. Pre-operative plasma levels of adiponectin and leptin were measured in consecutive patients undergoing elective colorectal surgery. All infections in the 30 d following surgery were recorded.Among the 142 patient…
Ophthalmic Outcomes of Congenital Toxoplasmosis Followed Until Adolescence
BACKGROUND: Congenital toxoplasmosis (CT) can elicit severe damage to several organs, especially the eye, and may be manifested at birth or later. We assessed the long-term ocular prognosis in a cohort of congenitally infected children treated according to a standardized protocol and monitored for up to 22 years. METHODS: This prospective study included confirmed cases of CT, which were identified by obligatory antenatal screening at the Lyon (France) reference center between 1987 and 2008. Data obtained through ocular examinations were recorded on a standardized form and confirmed by an independent external committee. Risk factors for retinochoroiditis were identified by using a multivari…
Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
International audience; OBJECTIVE: To determine the frequency and types of renal malformations, and to evaluate renal function in a cohort of patients with Kabuki syndrome (KS). STUDY DESIGN: Renal ultrasound scans and plasma creatinine measurements were collected from a French cohort of 94 patients with genotyped KS. Renal function was evaluated based on the estimated glomerular filtration rate. A genotype-phenotype study was conducted for renal and urinary tract malformations. RESULTS: Renal malformations were present in 22% of cases, and urinary tract anomalies were present in 15%. Renal malformations were observed in 28% of the MLL2 mutation-positive group and in 0% of the MLL2 mutation…
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
International audience; Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals affected by PWS. The aim of this study was to describe the rehabilitation, medical care, educational and social support provided to school-aged French PWS patients with varying neuropsychological profiles. Data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Nineteen PWS subjects with a mean age of 9.2 years were included. The mean full-scale intellectual quotient (IQ) was 58 (W…
Prevalence of Age-Related Macular Degeneration in Europe
Manuscript no. 2016-1147 Supplemental material is available at www.aaojournal.org/; International audience; [u]Purpose:[/u] 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. [u]Design:[/u] Meta-analysis of prevalence data. [u]Participants:[/u] A total of 42 080 individuals 40 years of age and older participating in 14 population-based cohor…
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
International audience; Congenital contractural arachnodactyly (CCA) is an extremely rare disease, due to mutations in the FBN2 gene encoding fibrillin-2. Another member of the fibrillin family, the FBN1 gene, is involved in a broad phenotypic continuum of connective-tissue disorders including Marfan syndrome. Identifying not only what is in common but also what differentiates these two proteins should enable us to better comprehend their respective functions and better understand the multitude of diseases in which these two genes are involved. In 1995 we created a locus-specific database (LSDB) for FBN1 mutations with the Universal Mutation Database (UMD) tool. To facilitate comparison of …
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations
International audience; AIMS: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations.METHODS AND RESULTS: A cohort of 34 patients from 9 families was recruited between 2001 and 2010. DNA were sequenced on all exons and flanking sequences of the PRKAG2 gene using Sanger sequencing. Overall, four families carried the recur…
Dietary fatty acids and recurrence of colorectal adenomas in a European intervention trial.
Epidemiological studies have provided inconsistent data about the role of dietary fatty acids in colorectal cancer, and few studies have addressed their role in colorectal adenoma. The aim of the study was to assess the risk of overall adenoma recurrence associated with dietary consumption of total fat, subtypes of fat, and specific fatty acids (oleic acid, linoleic acid, alpha-linolenic acid). The study sample was composed of 523 patients with confirmed adenomas at the index colonoscopy, 35 to 75 yr old, who completed the European fiber-calcium intervention trial and had an initial dietary assessment using a qualitative and quantitative food questionnaire. The overall 3-yr recurrence rate …
Congenital \textittoxoplasma infection: monthly prenatal screening decreases transmission rate and improves clinical outcome at age 3 years
Background. Toxoplasma infection during pregnancy exposes the fetus to risks of congenital infection and sequelae that depend heavily on gestational age (GA) at time of infection. Accurate risk estimates by GA are necessary to counsel parents and improve clinical decisions. Methods. We analyzed data from pregnant women diagnosed with acute Toxoplasma infection in Lyon (France) from 1987 to 2008 and assessed how the risks of congenital toxoplasmosis and of clinical signs at age 3 years vary depending on GA at the time of maternal infection. Results. Among 2048 mother-infant pairs, 93.2% of mothers received prenatal treatment and 513 (24.7%) fetuses were infected. Because of a significant red…
Prognostic Impact of 3-HM Concentration in Patients with Alcoholic or Viral Cirrhosis
The role of endotoxemia related to intestinal bacterial translocation in worsening liver disease is the subject of many studies, but its impact on cirrhosis mortality has not been well evaluated. In this study, 3-hydroxymyristate (3-HM) (specific lipid of lipopolysaccharides) was directly quantified by an innovative patented assay with the aim of assessing the impact on cirrhosis mortality. The 3-HM concentration was measured in 593 patients with alcoholic or viral cirrhosis in stable clinical condition. A Cox hazards regression model was used to evaluate association between 3-HM and its fractions bound or nor bound to lipoprotein and the mortality. The 3-HM concentration was increased in p…
Rural–urban differences in the long-term risk of colorectal cancer after adenoma removal: A population-based study
Abstract Background We investigated the impact of municipality of residence on colonoscopic surveillance and colorectal cancer risk after adenoma resection in a French well-defined administrative area. Methods This registry-based study included all patients residing in Cote d’Or (n = 5769) first diagnosed with colorectal adenomas between January 1, 1990, and December 31, 1999. Information about colonoscopic surveillance and colorectal cancer incidence was collected until December 31, 2003. Results A rural place of residence reduced the probability of colonoscopic surveillance in men [HR = 0.89 (95%CI: 0.79–0.99), p = 0.041] and in patients without family history of colorectal cancer [HR = 0…
The caregiver/patient relationship at the heart of health : A qualitative study
National audience
Comparison of heparin to citrate as a catheter locking solution for non-tunneled central venous hemodialysis catheters in patients requiring renal replacement therapy for acute renal failure (VERROU-REA study): study protocol for a randomized controlled trial.
Background The incidence of acute kidney injury (AKI) is estimated at 10 to 20% in patients admitted to intensive care units (ICU) and often requires renal replacement therapy (RRT). ICU mortality in AKI patients can exceed 50%. Venous catheters are the preferred vascular access method for AKI patients requiring RRT, but carry a risk of catheter thrombosis or infection. Catheter lock solutions are commonly used to prevent such complications. Heparin and citrate locks are both widely used for tunneled, long-term catheters, but few studies have compared citrate versus heparin for patients with short-term, non-tunneled catheters. We aim to compare citrate 4% catheter lock solution versus hepar…