M. Roussey

Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

We have evaluated a two-tier neonatal cystic fibrosis (CF) screening of immunoreactive trypsinogen (IRT) followed by CFTR gene mutation analysis using a systematic scanning of exons 7, 10, and 11, and, if necessary, by direct DNA sequencing. Over an 18-month period we screened 32,300 neonates born in the western part of Britanny. The first tier, involving IRT screening at 3 days of age, utilizes a low elevation of the trypsinogen level (600 ng/ml), which is highly sensitive. The second tier, which corresponds to the exhaustive screening for mutations in three exons of the gene, is highly specific for this population (Britanny). The false positive rate is very low, and no false negatives have been reported to date. This strategy has allowed the identification of five novel alleles (V322A, V317A, 1806 del A, R553G, G544S). Moreover the test can be adapted to other countries in which the distribution of mutations is established.

SFP CO-46 - Protection de l’enfance : connaissance et place des médecins généralistes (MG)

Objectif Evaluer l’etat des connaissances et des pratiques des MG concernant la realisation et la transmission d’une information preoccupante (IP) dans un contexte d’enfant en danger. Methode enquete epidemiologique descriptive en janvier 2013 aupres de l’ensemble des MG liberaux d’Ille-et-Vilaine. Resultats 33,5% (298/899) des MG ont repondu. L’echantillon etait comparable a la population des MG du departement. Seul 25.5% des MG avait entendu parler des dispositions legislatives du 5 mars 2007. Le terme d’IP etait inconnu de 70.1% des MG et son destinataire de 77.2% d’entre eux. La difference entre signalement judiciaire et IP etait ignoree par 79.5% des MG. L’obstacle principal a la transmission d’IP et a la collaboration avec les instances departementales etait le manque de formation (59.1%). Les 5% de MG de l’echantillon formes a l’IP etaient confrontes plus souvent a des situations de danger (86,7% vs 50,17%, p Conclusions Les dispositions legislatives actuelles qui concernent l’enfant en danger sont mal connues des MG de notre departement. La formation initiale et continue des MG ainsi que la realisation d’un guide sur l’IP sont des pistes de travail.

The Effectiveness of Chemotherapy in a Case of Childhood Esthesioneuroblastoma

Esthesioneuroblastoma or olfactory neuroblastoma is a rare tumour of neuronal origin (14) arising in the olfactory epithelium of the nasal vault. It is more frequently encountered in adults. Conventional treatment, consisting of surgical resection and/or radiation therapy, does not prevent local recurrence. The prognosis in cases of extensive disease is worse than in those of limited disease (5, 10). Good results in childhood neuroblastomas have been obtained with chemotherapy (7, 8). Various trials have therefore been proposed for certain olfactory neuroblastomas. The promising results encouraged us to use chemotherapy as the treatment of choice in a child of 4 suffering from an advanced form of the disease, given the consequences of surgery of radiotherapy at that age.