کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
7664263 | 1495132 | 2007 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Dépistage néonatal de la mucoviscidose, mise en place, implication des laboratoires et résultats nationaux
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
موضوعات مرتبط
مهندسی و علوم پایه
شیمی
شیمی آنالیزی یا شیمی تجزیه
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Dépistage néonatal de la mucoviscidose, mise en place, implication des laboratoires et résultats nationaux Dépistage néonatal de la mucoviscidose, mise en place, implication des laboratoires et résultats nationaux](/preview/png/7664263.png)
چکیده انگلیسی
Cystic fibrosis newborn screening : implemen- tation, laboratories involvement and national results CF neonatal screening programs began over than 40 years ago. Initially a meconium albumin screening test measurement was performed; more recently it moved to immunoreactive trypsin measurements on dried blood samples collected on filter paper combined to molecular analysis for the main CFTR mutations with good test sensitivity and specifity. CF neonatal screening has been controversial for many years; the long term benefit on pulmonary function test is not yet demonstrated but its median term benefits on nutritional parameters are esta- blished as soon as the CF screened infant follow-up is done in a specialized centre. That is the reason why the systematic newborn screening program implemented in France in 2002, was combined with a follow-up care for CF patients in CF care centres (CRCMs) created by the health regulatory agency. France became the first country in the world to per- form the CF neonatal screening all over its territory, and the French Association for the Screening and Prevention of Infant Handicaps (AFDPHE) has been mandated. From 2002 to December 2005, 625 CF cases were detected.The incidence is 1/4348 with a wide range of regional variations. Among these, 14% of the infants with positive CF NBS results have a dilemma case presentation with a borderline or normal sweat test results and at least one mild mutation whose prognosis re- mains unknown.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Revue Francophone des Laboratoires - Volume 2007, Issue 397, December 2007, Pages 67-72
Journal: Revue Francophone des Laboratoires - Volume 2007, Issue 397, December 2007, Pages 67-72
نویسندگان
Anne Munck, Jean-Louis Dhondt, Elise Houssin, Michel Rousey,