De Becdelievre A.,Service de biochimie genetique |
De Becdelievre A.,French Institute of Health and Medical Research |
De Becdelievre A.,University Paris Est Creteil |
Costa C.,Service de biochimie genetique |
And 20 more authors.
Human Genetics | Year: 2011
Fetal bowel anomalies may reveal cystic fibrosis (CF) and the search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the diagnostic investigations in such pregnancies, according to European recommendations. We report on our 18-year experience to document comprehensive CFTR genotypes and correlations with ultrasound patterns in a series of 694 cases of fetal bowel anomalies. CFTR gene analysis was performed in a multistep process, including search for frequent mutations in the parents and subsequent in-depth search for rare mutations, depending on the context. Ultrasound patterns were correlated with the genotypes. Cases were distinguished according to whether they had been referred directly to our laboratory or after an initial testing in another laboratory. A total of 30 CF fetuses and 8 cases compatible with CFTR-related disorders were identified. CFTR rearrangements were found in 5/30 CF fetuses. 21.2% of fetuses carrying a frequent mutation had a second rare mutation, indicative of CF. The frequency of CF among fetuses with no frequent mutation was 0.43%. Correlation with ultrasound patterns revealed a significant frequency of multiple bowel anomalies in CF fetuses. The results emphasize the need to search for rearrangements in the diagnosis strategy of fetal bowel anomalies. The diagnostic value of ultrasound patterns combining hyperechogenic bowel, loop dilatation and/or non-visualized gallbladder reveals a need to revise current strategies and to offer extensive CFTR gene testing when the triad is diagnosed, even when no frequent mutation is found in the first-step analysis. © 2010 Springer-Verlag. Source
Napoleon B.,Hopital Prive Jean Mermoz |
Gincul R.,Service dHepatogastroenterologie |
Ponchon T.,Service dHepatogastroenterologie |
Berthiller J.,Unite DEpidemiologie Clinique |
And 11 more authors.
Endoscopy | Year: 2014
Background and study aims: Endoscopic papillectomy of early tumors of the ampulla of Vater is an alternative to surgery. This large prospective multicenter study was aimed at evaluating the long-term results of endoscopic papillectomy. Patients and methods: Between September 2003 and January 2006, 10 centers included all patients referred for endoscopic papillectomy and meeting the inclusion criteria: biopsies showing at least adenoma, a uT1N0 lesion without intraductal involvement at endoscopic ultrasound (EUS), and no previous treatment. A standardized endoscopic papillectomy was done, with endoscopic monitoring with biopsies 4-8 weeks later where complications were recorded and complementary resection performed when necessary. Follow-up with duodenoscopy, biopsies, and EUS was done at 6, 12, 18, 24 and 36 months. Therapeutic success was defined as complete resection (no residual tumor found at early monitoring) without duodenal submucosal invasion in the resection specimen in the case of adenocarcinoma and without relapse during follow-up. Results: 93 patients were enrolled. Mortality was 0.9% and morbidity 35%, including pancreatitis in 20%, bleeding 10%, biliary complications 7%, perforation 3.6%, and papillary stenosis in 1.8%. Adenoma was not confirmed in the resection specimen in 14 patients who were therefore excluded. Initial treatment was insufficient in 9 cases (8 carcinoma with submucosal invasion; 1 persistence of adenoma). During follow-up, 5 patients had tumor recurrence and 7 died from unrelated diseases without recurrence. Finally, 81.0% of patients were cured (95% confidence interval 72.3%-89.7%). Conclusion: Endoscopic papillectomy of selected ampullary tumors is curative in 81.0% of cases. It must be considered to be the first-line treatment for early tumors of the ampulla of Vater without intraductal invasion. © Georg Thieme Verlag KG Stuttgart · New York. Source
Quality of life, asthma control, urinary cotinine and therapeutic education among asthmatic children [Qualité de vie, contrôle de l'asthme, cotininurie et éducation thérapeutique de l'enfant asthmatique]
Beydon N.,University Paris Est Creteil |
Robbe M.,Ecole de Lasthme |
Lebras M.-N.,Ecole de Lasthme |
Marchand V.,Ecole de Lasthme |
And 4 more authors.
Sante Publique | Year: 2012
Therapeutic patient education (TPE) has been standard practice in France for roughly 20 years. However, TPE has only recently been officially recognized and has rarely been assessed. The objective of this study was to assess the impact of TPE on passive smoking exposure and asthma outcomes in young patients referred to a hospital school for children with asthma. A prospective cohort study was conducted to determine the socio-economic status, environmental exposure (including parental tobacco consumption) and medical history of children starting out on a TPE course. The study measured quality of life and urinary cotinine. Asthma control was also assessed. Out of a total of 54 children (median age 8.6 years), 35 and 26 children attended three or at least four TPE sessions, respectively. Uncontrolled asthma and a history of hospitalization for exacerbation of asthma were frequent (43% and 61%, respectively). In utero passive smoke exposure was more frequent in the hospitalization group (p = 0.07). Urinary cotinine levels were similar in children exposed and not exposed to tobacco smoke (259 vs 141 nMol.L-1, p = 0.15), but only decreased in the group of exposed children. In 34 children, quality of life improved significantly between the first and the third or fourth sessions (n = 23, median increase 1.06, p = 0.1), while asthma control improved in 64% of the patients (n = 33, p = 0.01) and emergency attendances decreased (n = 34, p = 0.001). The positive effects of TPE on asthma control and quality of life were quickly visible but did not prevent children from withdrawing from the program. Urinary cotinine was not useful for detecting exposure to tobacco smoke, but may be useful as an indicator of exposure to tobacco smoke. The results indicate an improvement in quality of life and asthma control as TPE proceeded. © S.F.S.P. Tous droits réservés pour tous pays. Source
Sartor A.,University Paris Diderot |
Arthurs O.,Service dImagerie Pediatrique et Foetale |
Alberti C.,University Paris Diderot |
Belarbi N.,Service dImagerie Pediatrique et Foetale |
And 7 more authors.
Prenatal Diagnosis | Year: 2014
Objective: The objective of this study was to determine the reproducibility, the inter-hemispheric difference and the reference apparent diffusion coefficient (ADC) values of the fetal brain according to gestational age. Method: One hundred and one normal fetal brain (29.4-38.4weeks) were analysed with diffusion-weighted MR imaging. ADC was measured in frontal white matter (FWM), occipital white matter (OWM), centrum semi-ovale (CSO), basal ganglia (BG), cerebellar hemisphere (CBM) and pons. ADC ratios (fronto-occipital, fronto-cerebellar and occipito-cerebellar) were calculated. Inter-observer reproducibility was assessed on 27 studies, using intra-class correlation coefficient and Bland-Altman plot. Inter-hemispheric difference was evaluated with Bland-Altman plot. Gestation-specific reference intervals were estimated for each brain region. Results: Inter-observer bias was near zero. Limits of agreement (LOA) were clinically acceptable (-0.17; 0.20 to -0.38; 0.31×10-3mm2/s) for all brain regions except for CSO and pons. Inter-hemispheric bias was near zero. Smallest LOA were for FWM (±0.09mm2/s) and BG (±0.019mm2/s). ADC values decreased, whereas ADC ratio increased with gestational age, reflecting normal maturation. Fronto-occipital, fronto-cerebellar and occipito-cerebellar ratios were consistently above 0.8, 1 and 1, respectively. Conclusion: The fetal brain regions with the highest reproducibility and smallest inter-hemispheric differences are the frontal, occipital, cerebellar white matter and BG. ADC ratio could be useful to assess differential temporo-spatial maturation. © 2013 John Wiley & Sons, Ltd. Source
Berthe-Aucejo A.,Pharmacie |
Girard D.,Unite DEpidemiologie Clinique |
Girard D.,University of Basel |
Lorrot M.,Service de pediatrie generale |
And 13 more authors.
Archives of Disease in Childhood | Year: 2016
Objective To study reconstitution and preparation dosing errors of liquid oral medications given by caregivers to children. Methods A prospective observational study was carried out in the departments of general paediatrics and emergency paediatrics at the Robert-Debré Children's University Hospital. An interview with caregivers involved (1) practical reconstitution and preparation of an oral liquid medication from a prescription drawn at random (amoxicillin (Clamoxyl, dosing spoon) or josamycin (Josacine, dose-weight pipette)) and (2) a questionnaire about their use. Results One hundred caregivers were included. Clamoxyl and Josacine were incorrectly reconstituted in 46% (23/50) and 56% (28/50) of cases, respectively, with a risk of underdosing of Clamoxyl (16/23) and overdosing of Josacine (23/28). Dose preparation with the dosing spoon was incorrect in 56% of cases, and in 10% of cases with the dose-weight pipette. Female sex, native French speaker, and age were significantly associated with correct reconstitution. Male sex and medication were significantly associated with correct preparation. Conclusions This study highlights the high incidence of errors made by caregivers in reconstituting and preparing doses of these liquid oral medicines, which are associated with considerable risks of over-and underdosing. Factors associated with these errors have been identified which could help health professionals to optimise their strategy for educating families about the use of liquid oral medications and the need to check that they understand these instructions. Source