[The place of pediatricians in newborn screening]. / Place du pédiatre dans le dépistage néonatal.

Newborn screening was implemented in France 40 years ago, initiated by a small group of pediatricians and biologists. Pediatricians play a central role in this action, from the reflection on new prospects to the care of affected children. This article reviews all the steps in newborn screening where pediatricians play a role as well as recent and future changes.

[Uncommon neonatal case of hypoglycemia: ACTH resistance syndrome]. / Hypoglycémie néonatale sévère et récidivante sans perte de sel révélatrice d'un syndrome de résistance à l'ACTH.

Monitoring of blood glucose is usually reported to reduce the risk of hypoglycemia in term newborns with high risk factors and for prematurity in neonatal intensive care unit patients. Differential diagnosis has rarely been discussed. In the eutrophic term newborn, hypoglycemia remains rare and an etiological diagnosis must be made. Intensive management of neonatal hypoglycemia is required to prevent neurodevelopmental defects. Without evident cause or if hypoglycemia persists, a systematic review of possible causes should be made. We report isolated glucocorticoid deficiency diagnosed in an infant at 10 months of age. This boy had neonatal hypoglycemia and mild jaundice that had not been investigated. During his first 9 months of life, he presented frequent infections. At 10 months of age, febrile seizures occurred associated with shock, hypoglycemia, hyponatremia, mild hyperpigmentation, and coma. He was diagnosed with hypocortisolemia and elevated ACTH levels. Brain injury was revealed by MRI after resuscitation, with hypoxic-ischemic and hypoglycemic encephalopathy. The molecular studies demonstrated the presence of p.Asp107Asn and previously unreported frameshift p.Pro281GlnfsX9 MC2R gene mutations. A substitutive hormone therapy was provided and during a follow-up of 12 months no adrenal crisis was noted. We report an unusual case of familial glucocorticoid deficiency with severe neurological injury. This case demonstrates the importance of an appropriate etiological diagnosis in neonatal hypoglycemia.

[Infections of central venous catheters in home parenteral nutrition: a retrospective monocentric study over 2 years]. / Infections des voies veineuses centrales en nutrition parentérale à domicile : étude rétrospective monocentrique sur 2ans.

BACKGROUND AND STUDY AIMS: Infection of the central venous catheter (CVC) is the main aggravating factor of parenteral nutrition. The aim of this study was to determine the ecology of these infections in our home parenteral nutrition center and to evaluate our care protocol. PATIENTS AND METHODS: The present study was monocentric and retrospective, and was conducted in the parenteral nutrition service of the Marseille University Hospital between 1 January 2011 and 31 May 2012. During this period, all the children who presented fever and a positive hemoculture in a medical emergency were taken into account, and the characteristics of the infection were analyzed. RESULTS: After 17 months, 17 children had been subject to an infection in their central catheter: 47 bacteremia were identified, which is equivalent to 5.4 infections for 1000 days of CVC. An average 2.8 hemocultures were performed during this time. The most common bacterium was Staphylococcus hominis. The children affected by a digestive stoma or by a gastrostomy were not subject to more infections and their ecology was not different. All the children were referred to the hospital and treated with an intravenous antibiotic through the CVC. DISCUSSION: As expected during the time of the study, the infection rate was very high. This finding led us to reassess our prevention protocol. It is also very likely that the number of infections was overestimated due to the protocol for sampling in the hemocultures and their subsequent analysis. Lastly, some children relapsed easily, although no predisposing factor was found in the present study. The therapy chosen was in agreement with the best practices and the ecology recovered. CONCLUSION: The high number of infections observed during the study encourages a prospective evaluation of current practices.

[Immunological screening and follow-up of celiac disease: experience of the University Hospital of Marseille]. / Dépistage et suivi immunologique de la maladie cœliaque : expérience du CHU de Marseille.

PURPOSE: Anti-tissue transglutaminase antibodies (ATTG) have helped to distinguish atypical and silent clinical forms of celiac disease (CD). Immunological diagnosis or follow-up of the disease is now based in France in first line upon IgA ATTG serum evaluation. In the University Hospital of Marseille, the serological diagnosis of CD had consisted during several years in simultaneous determination of both IgA anti-endomysial antibodies (AEA) and IgA ATTG. In literature, few studies focused on the concordance between the two tests and a very few epidemiological data about CD in France are available. METHODS: Five thousand nine hundred and eighty-one patients for whom both AEA and ATTG testing were available were retrospectively included. Characteristics of this cohort were detailed. We numbered and analyzed especially bioclinical charts from patients with AAE/AATG discordance. RESULTS: Among our patients, all ages and all medical subspecialties were represented. Eighty-five new cases of CD were identified. Among the 6516 serum evaluations performed, only 31 tests were discordant. CONCLUSIONS: Our data give information about CD epidemiology in France. They support the contention that ATTG have to be evaluated in first line for CD diagnosis.

[Digestive expression (pancreatic and intestinal) of cystic fibrosis: an approach based on physiopathology]. / Atteinte digestive (pancréatique et intestinale) de la mucoviscidose: approche physiopathologique.

Digestive abnormalities contribute significantly to the morbidity in cystic fibrosis as well as to the mortality, through their relations with the pulmonary part of the disease. Physiopathological consequences of the CFTR misfunction at different levels of the digestive tract (biliary and pancreatic secretions, digestion-absorption mechanisms) are not well understood. Even if pancreatic insufficiency is the most evident and critical problem, it is not the only one. That is the reason why pancreatic enzyme replacement therapy does not resolve all the digestive symptoms. Research is needed for a better understanding of digestive abnormalities in cystic fibrosis and their treatment.

[Neonatal screening for sickle cell disease at the Nice University Hospital: the last 8 years]. / Dépistage néonatal de la drépanocytose au CHU de Nice : bilan des 8 dernières années.

INTRODUCTION: Screening for sickle cell disease, the most common of recessive autosomic hemoglobin disorders, allows detection of sickle cell disease SCD (homozygous sickle cell disease, compound heterozygote SC, and S ß-thalassemia) in a target population. Our objective was to evaluate its effectiveness at the Nice University Hospital. POPULATION AND METHODS: This prospective study was conducted between 1 January 2000 and 31 December 2008. The national targeted newborn screening, run together with the Guthrie test on the 3rd day of life, offered at-risk newborns (based on ethnicity and family history), allow the detection of qualitative hemoglobin abnormalities. A confirmatory test is performed when positive. Gender, ethnicity, type of hemoglobin found, zygosity, age at diagnosis, the presence at a 2nd consultation of the families identified, and acceptance of the confirmatory test were collected and analyzed. RESULTS: A total of 19,775 children were born in Nice University Hospital during this period, among whom screening detected 151 hemoglobinopathies: 139 heterozygotes and 12 major sickle cell syndrome (9 SS and 3 S ß-thalassemia). The prevalence of SCD on the targeted and the total population was, respectively, 1 out of 659 and 1 out of 1648 and the prevalence of heterozygotes was 1 out of 57 and 1 out of 142. The sex ratio was close to 1. Hemoglobin S predominated (74% of pathogens Hb). The Maghreb and sub-Saharan Africa were the 2 main areas of origin. One hundred and four of 151 families, including 12 cases of SCD, returned to consultation after they received a letter requesting attendance at a 2nd consultation. For 80 children, the confirmatory test was accepted. Feedback was possible for 72 of the 80 families. DISCUSSION: The number of children screened is increasing, thanks to better awareness among medical staff. The prevalence of SCD and heterozygotes found in Nice University Hospital is similar to what is described in the literature. With screening, early diagnosis allows early treatment at the age of 2 months before the occurrence of complications, reducing morbidity and mortality. CONCLUSION: Screening for sickle cell disease appears effective in Nice. It seems necessary to continue focusing on the importance of screening among maternity healthcare actors.