Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for this disorder.

[The place of pediatricians in newborn screening].

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].

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.

Ara h 2 and Ara h 6 sensitization predicts peanut allergy in Mediterranean pediatric patients.

Background: Peanut allergy (PA) management was improved by the introduction of molecular allergology, but guidelines for Mediterranean patients are lacking. We aimed at evaluating peanut component-resolved diagnosis as a diagnostic and prognostic tool in children from Southern France.

Methods: In 181 pediatric patients, PA diagnosis was founded on medical history, skin prick testing, serum-specific IgE to Arachis hypogea extract and components, Pru p 4, and plant carbohydrates, and oral food challenge.

[Infections of central venous catheters in home parenteral nutrition: a retrospective monocentric study over 2 years].

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.

Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP.

Background: French health authorities promoted a study on 553,167 newborns comparing the performances of IRT/DNA and IRT/PAP for CF newborn screening.

Methods: In parallel to IRT/DNA, PAP was assayed in newborns with IRT>50 μg/L. Provisional PAP cutoffs at 3.

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.

Objectives: Syndromic diarrhoea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital syndrome. The main features are intractable diarrhoea of infancy, hair abnormalities, facial dysmorphism, intrauterine growth restriction and immune system abnormalities. It has been linked to abnormalities in two components of the putative human ski complex: SKIV2L and TTC37.

[Immunological screening and follow-up of celiac disease: experience of the University Hospital of 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.

[Digestive expression (pancreatic and intestinal) of cystic fibrosis: an approach based on physiopathology].

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.

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and the decay of nonfunctional mRNA.

Severity scores in children with acute pancreatitis.

Severity scores are used to predict the outcome of acute pancreatitis (AP). Several scores are used in adult patients, but none has been thoroughly validated for specific use in paediatric patients. We retrospectively collected data from 48 children with AP (13 severe and 35 mild).

Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.

The 1991 introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) as a treatment for hereditary tyrosinemia type 1 (HT-1), a disorder of tyrosine catabolism, has radically modified the natural history of this disorder. Despite the dramatic improvements in survival, outcomes and quality of life seen with NTBC treatment, HT-1 remains a chronic disorder with several long-term complications, including, a persistent (albeit low) risk of hepatocellular carcinoma and suboptimal neuropsychological outcomes. There remain unsolved key-questions concerning the long-term outcomes of patients with HT-1, which closely depend on the quality of follow-up in these patients.

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.

The Tricho-Hepato-Enteric (THE) syndrome is an autosomal recessive condition marked by early and intractable diarrhea, hair abnormalities, and immune defects. Mutations in TTC37, which encodes the putative protein Thespin, have recently been associated with THE syndrome. In this article, we extend the pattern of TTC37 mutations by the description of 11 novel mutations in 9 patients with a typical THE syndrome.

[Neonatal screening for sickle cell disease at the Nice University Hospital: the last 8 years].

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 β-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.