Faivre L.,Center dinvestigation clinique epidemiologie clinique essais cliniques |
Faivre L.,University of Burgundy |
Collod-Beroud G.,French Institute of Health and Medical Research |
Collod-Beroud G.,Montpellier University |
And 34 more authors.
Clinical Genetics | Year: 2012
The diagnosis of Marfan syndrome (MFS) is challenging and international criteria have been proposed. The 1996 Ghent criteria were adopted worldwide, but new diagnostic criteria for MFS were released in 2010, giving more weight to aortic root aneurysm and ectopia lentis. We aimed to compare the diagnosis reached by applying this new nosology vs the Ghent nosology in a well-known series of 1009 probands defined by the presence of an FBN1 mutation. A total of 842 patients could be classified as MFS according to the new nosology (83%) as compared to 894 (89%) according to the 1996 Ghent criteria. The remaining 17% would be classified as ectopia lentis syndrome (ELS), mitral valve prolapse syndrome or mitral valve, aorta, skeleton and skin (MASS) syndrome, or potential MFS in patients aged less than 20 years. Taking into account the median age at last follow-up (29 years), the possibility has to be considered that these patients would go on to develop classic MFS with time. Although the number of patients for a given diagnosis differed only slightly, the new nosology led to a different diagnosis in 15% of cases. Indeed, 10% of MFS patients were reclassified as ELS or MASS in the absence of aortic dilatation; conversely, 5% were reclassified as MFS in the presence of aortic dilatation. The nosology is easier to apply because the systemic score is helpful to reach the diagnosis of MFS only in a minority of patients. Diagnostic criteria should be a flexible and dynamic tool so that reclassification of patients with alternative diagnosis is possible, requiring regular clinical and aortic follow-up. © 2011 John Wiley & Sons A/S.
Iacobelli S.,Neonatologie |
Iacobelli S.,Center Detudes Perinatales Of Locean Indien |
Bonsante F.,Neonatologie |
Bonsante F.,Center Detudes Perinatales Of Locean Indien |
And 9 more authors.
PLoS ONE | Year: 2013
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% confidence interval (95% CI) of severe adverse outcome for hypoproteinemia (total plasma protein level <40 g/L) was calculated by univariate and multivariate analyses. Calibration (Hosmer-Lemeshow goodness-of-fit) was performed and the predictive ability for severe adverse outcome was assessed for total plasma protein and compared with CRIB, CRIB-II, SNAP-II and SNAPPE-II, by calculating receiver operating characteristic (ROC) curves and their associated area under the curve (AUC).Results:761 infants were studied: 14.4% died and 4.1% survived with severe cerebral ultrasound findings. The aOR of severe adverse outcome for hypoproteinemia was 6.1 (95% CI 3.8-9.9). The rank order for variables, as assessed by AUCs and 95% CIs, in predicting outcome was: total plasma protein [0.849 (0.821-0.873)], SNAPPE-II [0.822 (0.792-0.848)], CRIB [0.821 (0.792-0.848)], SNAP-II [0.810 (0.780-0.837)] and CRIB-II [0.803 (0.772-0.830)]. Total plasma protein predicted severe adverse outcome significantly better than CRIB-II and SNAP-II (both p<0.05). Calibration for total plasma protein was very good.Conclusions:Early hypoproteinemia has prognostic value for severe adverse outcome in very preterm, sick infants. Total plasma protein has a predictive performance comparable with CRIB and SNAPPE-II and greater than other validated severity scores. © 2013 Iacobelli et al.
Wallon M.,Hospices Civils de Lyon |
Peyron F.,Hospices Civils de Lyon |
Cornu C.,French Institute of Health and Medical Research |
Vinault S.,French Institute of Health and Medical Research |
And 9 more authors.
Clinical Infectious Diseases | Year: 2013
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 reduction in risk since 1992 when monthly screening was introduced (59.4% vs 46.6% at 26 GA weeks; P =. 038), probabilities of infection were estimated on the basis of maternal infections diagnosed after mid-1992 (n = 1624). Probabilities of congenital infection were <10% for maternal infections before 12 weeks of gestation, rose to 20.0% at 19 weeks, and then continued increasing to 52.3% and almost 70% at 28 and 39 GA weeks, respectively. Because of a significant reduction in risk of clinical signs of congenital toxoplasmosis in infected children born from mothers diagnosed after 1995 when polymerase chain reaction testing on amniotic fluid was initiated (87/794 vs 46/1150; P =. 012), probabilities of clinical signs at 3 years were estimated based on 1015 maternal infections diagnosed after 1995 including 207 infected children, with symptoms in 46 (22.2%).Conclusions. These analyses demonstrated that introduction of monthly prenatal screening and improvement in antenatal diagnosis were associated with a significant reduction in the rate of congenital infection and a better outcome at 3 years of age in infected children. Our updated estimates will improve individual management and counseling in areas where genotype II Toxoplasma is predominant. © 2012 The Author.
Iacobelli S.,Dijon University Hospital |
Iacobelli S.,French Institute of Health and Medical Research |
Bonsante F.,Dijon University Hospital |
Lacoutiere C.,Dijon University Hospital |
And 9 more authors.
Journal of Perinatology | Year: 2012
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 <40 gl -1) on day 1 of life occurred in 19.5 % of all patients. The rate of SAO was 33.7% in patients with hypoproteinemia and 9.9% in those with normoproteinemia (P<0.0001). Logistic and multiple regression analysis confirmed that the association hypoproteinemia-SAO remained significant after adjustment for the other major predictors of outcome present at baseline (odds ratio 3.4; 95% confidence interval 2.1-5.4; P<0.0001). Conclusion: Hypoproteinemia was highly associated with SAO in this cohort of critically ill preterm infants. We are unable to explain the link between hypoproteinemia and adverse outcome in our population. This investigation serves as a hypothesis-generating report of a large preterm infants sample, and suggests the need to assess the predictive accuracy for adverse outcome of hypoproteinemia in future prospective studies. © 2012 Nature America, Inc. All rights reserved.
Ferdynus C.,University of Burgundy |
Quantin C.,CHRU |
Quantin C.,University of Burgundy |
Abrahamowicz M.,McGill University |
And 8 more authors.
BJOG: An International Journal of Obstetrics and Gynaecology | Year: 2013
Objective: To compare prediction of perinatal deaths among preterm infants based on fetal weight standards versus a new subpopulation-based birthweight standard. Design: Population-based cohort study. Setting: France. Population: A total of 9100 preterm singletons, born between 24 and 36 weeks of gestation in 2000-09, in Burgundy (France). Methods: We first classified all newborns as either small for gestational age (SGA) or not, based on alternative fetal weight or birthweight standards, including a new birthweight standard that excludes infants born to mothers with disease related to the weight of a fetus. Based on discrepancies between the different classifications, we then divided the newborns into four groups, and compared their risks of stillbirth and in-hospital death, using a generalised linear model with relative risks (RR). Main outcome measures: Perinatal deaths, including, in separate analyses, stillbirths and in-hospital deaths. Results: The preterm infants classified as SGA by our new subpopulation-based birthweight standard but not by the conventional birthweight standard had a significantly higher risk of both stillbirth (RR = 2.6; 95% confidence interval [95% CI] = 1.9-3.6) and in-hospital death (RR = 2.8; 95% CI = 1.8-4.5). In contrast, no risk increase was found for infants classified as SGA by the fetal standard only (RR = 1.1; 95% CI = 0.7-1.7 for stillbirths, and RR = 0.5; 95% CI = 0.3-1.3 for in-hospital deaths). Conclusions: Our subpopulation-based birthweight standard identified a subgroup of preterm newborns who have significantly increased risks of perinatal death but are not classified as SGA by the conventional birthweight standard. In contrast, the subgroup classified as SGA by the fetal standards only, but not by our subpopulation-based birthweight standard, had no increased risk of mortality, compared with non-SGA infants. © 2013 RCOG.
Gouyon J.-B.,CHU de Dijon |
Gouyon J.-B.,University of Burgundy |
Vintejoux A.,CHU de Dijon |
Sagot P.,University of Burgundy |
And 6 more authors.
International Journal of Epidemiology | Year: 2010
Background Approximately 75% of preterm births are late-preterm (340/7 to 366/7 weeks gestation). This group has usually been considered as a whole in studies assessing the outcome of these preterm infants by comparison with term infants. However, the respective contribution to prognosis of each week of gestation has not been fully clarified. Methods A population-based study of 150 426 live-born singleton neonates with gestational ages ranging from 34 to 41 weeks of gestation. Results The rate of severe respiratory disorders (treated by mechanical ventilation and/or nasal continuous positive airway pressure) markedly declined with gestational age from 19.8% at 34 weeks to 0.28% at 39-41 weeks. Between 34 and 38 weeks, each additional week diminished the relative risk (crude or adjusted) of severe respiratory disorders by a factor varying from 2 to 3. The rate of poor prognosis (death and/or severe neurological condition) significantly declined between 34 and 38 weeks and remained stable thereafter. A multivariate analysis showed that antepartum haemorrhage and hypertensive disorders during pregnancy were significantly associated with severe respiratory disorders and poor outcome. Diabetes was an additional factor associated with severe respiratory disorders. Conclusions Future studies should delineate more precisely the respective contribution of gestational age, maternal complication and induced delivery in the prognosis of infants born between 33 and 39 weeks gestation. © The Author 2010. Published by Oxford University Press on behalf of the International Epidemiological Association. All rights reserved.
Piroth L.,University of Burgundy |
Fournel I.,CHRU Dijon |
Mahy S.,University of Burgundy |
Yazdanpanah Y.,CHU Tourcoing |
And 15 more authors.
Epidemiology and Infection | Year: 2011
Optimal 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/mm 3 without experiencing AIDS or death. For patients with a baseline HIV viral load ≥5 log10 copies/ml, boosted protease inhibitor-based immediate highly active antiretroviral therapy (HAART) allowed them to spend 12% more time with CD4 ≥500/mm 3 than did delayed HAART (6·40 vs. 5·69 and 5·57 vs. 4·90 years for baseline CD4 ≥500 and 350-499/mm 3, respectively). In patients with a baseline HIV viral load ≤3·5 log10 copies/ml, delayed HAART performed better than immediate HAART (6·43 vs. 6·26 and 5·95 vs. 5·18 for baseline CD4 ≥500 and 350-499/mm 3, respectively). Immediate HAART is beneficial in patients with a baseline HIV viral load ≥5 log10 copies/ml, whereas deferred HAART appears to be the best option for patients with CD4 ≥350/mm 3 and baseline HIV viral load <3·5 log10 copies/ml. © 2011 Cambridge University Press.
PubMed | Groupe Hospitalier Pitie Salpetriere 47 83 Boulevard Of Lhopital, Hopital Cardiologique, University of Versailles, AP HP and 12 more.
Type: | Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology | Year: 2016
Mutations in PRKAG2, the gene encoding for the 2 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.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 recurrent p.Arg302Gln mutation, and the five others carried private mutations among which three had never been reported. In the total cohort, at 40 years of age, the risk of developing HCM was 61%, VPE 70%, conduction block 22%, and sudden cardiac death (SCD) 20%. The global survival at 60 years of age was 66%. Thirty-two per cent of patients (N = 10) required a device implantation (5 pacemakers and 5 defibrillators) at a median age of 66 years, and two patients required heart transplant. Only one patient presented with significant skeletal muscle symptoms. No significant differences regarding the occurrence of VPE, ablation complications, or death incidence were observed between different mutations.This study of patients with PRKAG2 mutations provides a more comprehensive view of the natural history of this disease and demonstrates a high risk of cardiac complications. Early recognition of this disease appears important to allow an appropriate management.