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Le Touquet – Paris-Plage, France

Bienvenu T.,Laboratoire Of Biochimie Et Genetique Moleculaires | Bienvenu T.,University of Paris Descartes | Sermet-Gaudelus I.,Service de pediatrie generale | Sermet-Gaudelus I.,University of Paris Descartes | And 6 more authors.
American Journal of Respiratory and Critical Care Medicine | Year: 2010

Rationale: Although in patients with diffuse bronchiectasis (DB) and a normal sweat test the presence of one mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is frequently observed, its pathogenic role in the development of DB remains unclear. Objectives: To evaluate the association between CFTR heterozygosity and CFTR protein dysfunction in the airways of patients with DB. Methods: Nasal potential difference was measured in 122 patients with DB of unknown origin and with a normal sweat test (CI- < 60 mmol/L). They were classified according to the presence of CFTR mutations: zero (85 patients), one (22 patients), or two mutations (15 patients). Control groups comprised 26 healthy subjects, 38 obligate heterozygotes for CFTR, and 92 patients with classic cystic fibrosis (CF) with an abnormal sweat test (CI- ≥ 60 mmol/L). Patients classified as mild-CF were carrying at least one mild mutation and patients classified as severe-CF were homozygous for the F508del mutation. Measurements and Main Results: There was a continuum of airway CFTR dysfunction in the study population as shown by nasal potential difference measurements, ranging from normal values in healthy subjects, to intermediate values in subjects with DB, to highly abnormal values in subjects classified as severe-CF. This continuumof airway CFTR dysfunction was thus strongly associated with defects in the CFTR gene. Moreover, among patients with DB, a similar continuum in intermediate nasal potential difference was identified that was associated with the bearing of zero, one, or two CFTR mutations. These electrophysiological phenotypes and CFTR genotypes were also associated with the clinical phenotype, as shown by the frequency of Staphylococcus aureus and Pseudomonas aeruginosa bronchial colonization. Conclusions: Our study supports the hypothesis that a unique CFTR mutation may have pathogenic consequences in patients with DB.

Tubiana R.,French Institute of Health and Medical Research | Le Chenadec J.,Institute National Etudes Demographiques | Le Chenadec J.,French Institute of Health and Medical Research | Rouzioux C.,Laboratoire Of Virologie | And 10 more authors.
Clinical Infectious Diseases | Year: 2010

Background. The rate of mother-to-child transmission (MTCT) of human immunodeficiency virus (HIV) type 1 is as low as 0.5% in non-breast-feeding mothers who delivered at term while receiving antiretroviral therapy with a plasma viral load <500 copies/mL. This situation accounted for 20% of the infected children born during the period 1997-2006 in the French Perinatal Cohort. We aimed to identify factors associated with such residual transmission risk. Methods. We performed a case-control study nested in the aforementioned subpopulation of the French Perinatal Cohort. Results. Nineteen case patients (transmitters) and 60 control subjects (nontransmitters) were included. Case patients and control subjects did not differ by geographical origin, gestational age at HIV diagnosis, type of antiretroviral therapy received, or elective Cesarean delivery. Case patients were less often receiving treatment at the time that they conceived pregnancy than control subjects (16% vs 45%; P =.017). A lower proportion of case patients had a viral load <500 copies/mL, compared with control subjects, at 14 weeks (0% vs 38.1%; P =.02), 28 weeks (7.7% vs 62.1%; P =.005), and 32 weeks: (21.4% vs 71.1%; P =.004). The difference remained significant when we restricted analysis to the 10 of 16 intrapartum transmission cases. In a multivariate analysis at 30 ± 4 weeks adjusted for viral load, CD4 + T cell count, and time at antiretroviral therapy initiation, viral load was the only factor independently associated with MTCT of HIV (adjusted odds ratio, 23.2; 95% confidence interval, 3.5553; P<.001). Conclusions. Early and sustained control of viral load is associated with a decreasing residual risk of MTCT of HIV-1. Guidelines should take into account not only CD4 + T cell count and risk of preterm delivery, but also baseline HIV-1 load for deciding when to start antiretroviral therapy during pregnancy. © 2010 by the Infectious Diseases Society of America. All rights reserved.

Launay E.,French Institute of Health and Medical Research | Launay E.,Nantes University Hospital Center | Morfouace M.,French Institute of Health and Medical Research | Deneux-Tharaux C.,French Institute of Health and Medical Research | And 3 more authors.
Archives of Disease in Childhood | Year: 2014

Objective An ever-increasing number of studies analyses the distribution, determinants and consequences of time to diagnosis and delays. Weaknesses in their reporting can impede the assessment of the risks of bias and variation and thus create a risk of invalid conclusions and counterproductive clinical and public health efforts. This study sought to assess systematically the quality of reporting of articles about time to diagnosis in paediatrics. Design Two authors identified and analysed the quality of reporting of 50 consecutive articles assessing these intervals published from 2005 through October 2011, according to a checklist we developed of 35 items potentially associated with risks of bias and variation. Main outcome measure Frequency of articles reporting each item. Results Symptoms that should trigger a diagnostic procedure were reported in 28% of the articles; only two articles reported whether all patients with these symptoms underwent that procedure. Only 44% of the articles defined the beginning of the illness, 46% the date of diagnosis and 60% the distribution of time to diagnosis. Two studies met the criteria for all 11 items considered essential for assessing the risks of bias and variation in this type of study. Interpretation This study identified many weaknesses in the quality of reporting of studies of time to diagnosis in paediatrics, especially for items potentially related to risks of bias and variation. This finding underlines the need for the development of new (or the refinement of existing) guidelines for reporting this type of study.

Krupa B.,Service de pediatrie generale | Cimaz R.,Service de pediatrie | Ozen S.,Hacettepe University | Fischbach M.,Service de pediatrie | Cochat P.,Service de pediatrie
Journal of Rheumatology | Year: 2011

Objective. To describe the characteristics of a group of pediatric patients with Behçet's disease (BD) who presented at least 1 episode of thrombosis during their disease course. Methods. We made a retrospective chart review of the clinical, biological, and radiological data of children with BD who presented at least 1 episode of either arterial or venous thrombosis. Data were extracted from both an international pediatric Behçet cohort and files referred from 7 French centers. Results. Twenty-one patients were included. Diagnosis of BD was based on the criteria of the International Study Group for BD. Main locations for thrombosis were the cerebral sinuses, in 11 patients (52.4%); and lower limbs, in 9 patients (40.9%). Recurrent episodes were observed in 4 patients (21%). Thrombophilia measurements were normal in 14 patients out of 21, while anticardiolipin antibodies were positive in 4 patients, and 2 out of 21 had protein C deficiency. One patient had lupus anticoagulant. All patients were treated with colchicine. Corticosteroids were also added for variable periods in 13 patients. Five patients out of 21 were treated with anticoagulants (heparin, then anti-vitamin K) and 3 with antiplatelets (acetylsalicylic acid). Conclusion. Thromboses are a serious complication of BD and may occur early in the disease course. The presence of thrombophilic markers could increase the risk of thrombosis in BD, but the size of our population does not allow any conclusion. An international cohort (PED-BD) is currently in place and will allow study of such cases longitudinally, as well as assessment of the elements that correlate with an increased risk of thrombosis in children with BD. The Journal of Rheumatology Copyright © 2011. All rights reserved.

Juvenile idiopathic arthritis (JIA) is a group of diseases defined by the presence of arthritis of more than 6 weeks duration in patients aged less than 16 years and with unknown etiology. The international classification based on clinical and biological criteria define each type of JIA: systemic, oligoarticular, polyarticular with and without rheumatoid factor, enthesitis-related arthritis, and psoriatic arthritis. However, some discussions persist concerning systemic-onset juvenile idiopathic arthritis, whose clinical symptoms and pathogenic mechanisms are quite similar to those observed in autoinflammatory diseases, arthritis with antinuclear factors (poly- and oligoarticular) that could be considered as a homogenous group, and a family history of psoriasis that frequently led to unclassified arthritis. Better knowledge of the pathogenic mechanisms should improve the initial clinical classification with more homogeneous groups of patients and reduce the number of unclassified cases of arthritis. © 2016 Elsevier Masson SAS.

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