Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis.

Objectives: To evaluate the performance of a strategy in which, after immunoreactive trypsinogen (IRT) determination, genetic analysis is replaced by a biological test, the pancreatitis-associated protein (PAP) enzyme-linked immunosorbent assay (ELISA).

Study Design: The French newborn screening program includes cystic fibrosis (CF) screening by the IRT/CFTR mutation strategy. PAP was assayed on screening cards, in parallel with IRT, in all newborns from 5 French regions (n = 204,749).

[Sickle cell disease neonatal screening. First evaluation].

A neonatal screening allows a preclinical diagnosis of major sickle cell syndromes and an early management of the affected children. That would improve their life quality and expectancy. The preliminary program was set up on 518 senegalese newborn aged from 1 to 4 days, and coming from all the country ethnic groups.

Maternal phenylketonuria: the French survey.

Unlabelled: We report the French experience regarding pregnancies in maternal phenylketonuria (PKU). In 2001, a questionnaire was sent to each referring PKU specialist in the 20 centres of each region of France, collecting reports on 135 pregnancies in 79 women born between 1958 and 1980. The majority of the 135 pregnancies occurred after 1990.

Neonatal screening for cystic fibrosis: France rises to the challenge.

This paper describes the adjustments to the French neonatal screening programme required by the introduction of systematic screening for cystic fibrosis (CF), taking into account both the legal and statutory framework and the lessons of a pilot study carried out 10 years ago. The French association for the screening and prevention of infant handicaps (AFDPHE) has been mandated by its regulatory agencies to organize screening for CF in France (metropolitan and overseas territories). During the year 2001, expert groups (Technical Aspects, Information, Ethics and Genetics, Criteria for CF Centres, Protocol for the Care of a Newborn with CF) issued recommendations for the establishment of a national programme that would guarantee efficiency and adequate patient care from the time of diagnosis onward.

[National neonatal screening program for cystic fibrosis: management and organization].

France has decided to add to the national neonatal screening program (Phenylketonuria, Hypothyroidism, Congenital Adrenal Hyperplasia, Sickle cell disease) the screening of cystic fibrosis (CF). The screening of CF will be implemented in all regions of France by the end of 2002 and will cover all newborn (near 800,000/year). Based on the recommendation of the French Screening Foundation, the project has been approved by the Health Ministry and will be financed by the social security.

Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria.

Recent European studies have shown that growth retardation is com-mon in people with phenylketonuria (PKU) during the first years of life while they receive a low-phenylalanine (Phe) diet. The aims of the present study were to assess the growth of our PKU patients and to search for nutritional and hormonal explanations for the growth delay. Twenty PKU patients aged 8 months to 7 years entered the study.

[National program for neonatal screening for cystic fibrosis: implementation and preliminary results].

Neonatal screening for cystic fibrosis was decided by the national medical authorities after a common investigation conducted by the French association ADPHE and national health insurance fund. Based on therapeutic progress and the proposed method using determination of blood immunoreactive trypsin then study of the main CF mutations, there is strong hope of effective CF detection and clinical benefit for the patients.

[The wonderful history of neonatal screening].

The concept of neonatal screening for metabolic disorders was launched by Robert Guthrie in 1963. A filter paper blood sample and a cheap and rapid analytical technique were factors that paved the road to success. Mass screening for phenylketonuria soon started to spread.

Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis.

Aim: To determine whether pancreatitis associated protein (PAP) is a marker for cystic fibrosis which could be used in neonatal screening for the disease.

Methods: PAP was assayed on screening cards from 202,807 neonates. Babies with PAP > or = 15 ng/ml, or > or = 11.

[Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996].

Aim: The results of the neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by 17-hydroxyprogesterone measurement from blood spot on blotting-paper in 408,138 newborns in the French Nord-Pas-de-Calais region from 1980 to 1996 are reported.

Methods: This measurement successively used a tracer tritium labelled (RIA H3), 125 iodine (RIA I125), then immunofluorometric method (Delfia). From 1992, sampling was systematically performed at the third day of life.

Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature.

Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is an autosomal-dominant trait with variable expressivity. So far it was described in 5 families. We report on a sixth family with severe progression of eye involvement and discuss the nosology with similar diseases, such as early-infantile sarcoidosis.

Normal gastric histology in Helicobacter pylori-infected children.

Background: In adults, Helicobacter pylori infection is always associated with gastritis or ulcer. However, very active gastritis and ulcers are rarely seen in children. The aim of the present work was to study the relationships between H.

Nutritional impact of antipseudomonas intravenous antibiotic courses in cystic fibrosis.

Objective: To evaluate the short term effects on nutritional status of home intravenous anti-pseudomonas antibiotic courses in cystic fibrosis (CF) patients chronically colonised with Pseudomonas aeruginosa.

Design: A prospective study involving 38 CF patients, mean age 10.9 (SD 4.

[Neonatal esophago-gastro-duodenoscopy. Apropos of 123 examinations performed on 107 newborn infants].

Unlabelled: Upper gastrointestinal endoscopy is frequently used in the neonatal period. The aim of this study was to assess the frequency of the different lesions occurring as well as to precise indications of upper gastrointestinal endoscopy in neonates.

Population And Methods: A retrospective study including 107 neonates referred between October 1986 and April 1995 has been achieved in the pediatric gastroenterology unit of the Lille University Hospital.

A thyroxine dosage of 8 micrograms/kg per day is appropriate for the initial treatment of the majority of infants with congenital hypothyroidism.

Unlabelled: The adequate L-thyroxine dosage for the initial treatment of infants with congenital hypothyroidism is a subject of controversy. Some recommend higher dosages (> 10 micrograms/kg/day) to ensure adequate levels, while others advocate lower dosages to permit normalisation of thyroid status. The aim of this study was to evaluate the results of a treatment strategy using an initial dosage of 7.