Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.

Objective: The adipogenic PPARG-encoded PPARγ nuclear receptor also displays essential placental functions. We evaluated the metabolic, reproductive, and perinatal features of patients with PPARG-related lipodystrophy.

Methods: Current and retrospective data were collected in patients referred to a National Rare Diseases Reference Centre.

Cancer Incidence Among Children in New Caledonia, 1994 to 2012.

New Caledonia (NC) is a small French territory in the Pacific Ocean with a relatively young (32% under 20) and multiethnic population. It is divided into 3 districts: Loyalty Island, the North, and the South, each with specific population characteristics. The aim of this study was to describe childhood cancer age-standardized incidence rate (ASR) in NC, compare it with the estimated one in France , and to determine whether residence and ethnicity may have an influence on intrapopulation ASR.

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

Bardet-Biedl syndrome (BBS; MIM 209900) is a recessive heterogeneous ciliopathy characterized by retinitis pigmentosa (RP), postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. So far, 20 BBS genes have been identified, with the last reported ones being found in one or very few families. Whole-exome sequencing was performed in a consanguineous family in which two affected children presented typical BBS features (retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism and cognitive impairment) without any mutation identified in known BBS genes at the time of the study.

Newly diagnosed rheumatic heart disease among indigenous populations in the Pacific.

Objectives: Rheumatic heart disease (RHD) remains the leading acquired heart disease in the young worldwide. We aimed at assessing outcomes and influencing factors in the contemporary era.

Methods: Hospital-based cohort in a high-income island nation where RHD remains endemic and the population is captive.

Relationships Between Clinico-Epidemiological Patterns of Invasive Meningococcal Infections and Complement Deficiencies in French South Pacific Islands (New Caledonia).

Purpose: Invasive Meningococcal Disease (IMD) is three fold more common in New Caledonia (NC) than in metropolitan France and many IMD cases (35.7%) are due to Y and W135 serogroups. The purpose of our study was to identify IMD risk factors in NC.

Association between age and severity to leptospirosis in children.

Background: In endemic areas, leptospirosis is more common and more severe in adults compared with children. Reasons to explain this discrepancy remain unclear and limited data focusing on adolescents are available. The objective of the study was to describe disease spectrum and outcome differences in children and adolescents admitted for leptospirosis in a large at-risk population.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic heterogeneity. A hundred patients (71 males and 29 females) with a MH and ID were recruited. Custom-designed 244K array-CGH (Agilent®; Agilent Technologies Inc.

[Leprosy with an unusual course].

In developed countries, Hansen disease, or leprosy, is a rare and little-known disease. Over the last few years, its prevalence in New Caledonia has remained stable (0.35 per 10,000 inhabitants).

Lower respiratory infections among hospitalized children in New Caledonia: a pilot study for the Pneumonia Etiology Research for Child Health project.

We conducted a prospective pilot study over a 1-year period in New Caledonia in preparation for the Pneumonia Research for Child Health (PERCH) project. The pathogens associated with hospitalized lower respiratory infections in children were identified through the use of culture of induced sputum and blood, urinary antigen detection, polymerase chain reaction (PCR) on respiratory specimens, and serology on paired sera. Respiratory viruses were detected on respiratory specimens by immunofluorescence and PCR, and by serology on paired sera.

[Tobacco and marijuana use in adolescent students in Noumea].

Introduction: New Caledonia is situated in the western South Pacific 20000 km from France. In this Overseas Territory (pays d'outre-mer [POM]) the prevalence of tobacco smoking is very high and estimated at 30% among men and 34% among women. Experimenting with cannabis is also very widespread.

Invasive serotype 1 Streptococcus pneumoniae outbreaks in the South Pacific from 2000 to 2007.

In New Caledonia, Wallis and Futuna, and French Polynesia, an active surveillance system was established to monitor pneumococcal serotype prevalence between 2000 and 2007. The most prevalent serotype was serotype 1, which belonged to the major clonal complex sequence type 306 (ST306) and was responsible for invasive pneumococcal disease outbreaks.

Nanophthalmos in a Melanesian population.

Purpose: To characterize the ophthalmic features and causes of visual loss in a cohort of Melanesians living in New Caledonia with nanophthalmos.

Methods: In this observational study, axial length, visual acuity (VA), cycloplegic autorefraction were assessed and dilated fundus examination was performed. Visual impairment was defined as VA<6/12 in the better eye, hypermetropia as >+1.

[Sudden sight impairment revealing a cat-scratch disease: report of three cases].

Unlabelled: Cat-scratch disease is a frequent but innocuous cause of chronic lymphadenopathy in children. Numerous atypical forms have been described. We report three cases of acute sight impairment revealing a cat-scratch disease.

[Hepatic abscesses in childhood: retrospective study about 33 cases observed in New-Caledonia between 1985 and 2003].

Unlabelled: Hepatic abscesses in childhood are rarely observed in Europe. The aim of this word was to study how to diagnose and how to treat an hepatic abscess.

Methods: Between 1985 and 2003, we recensed retrospectively 33 cases of hepatic abscesses hospitalised in the paediatric unit of Noumea.

[Perforated gastric ulcer in the child: a rare complication, a case report].

Unlabelled: Perforated gastric ulcer is unusual in children. We report a case in a girl with an unexpected evolution.

Case Report: A 13-year-old girl was admitted for abdominal pain.

Effect of early, short-term supplementation on weight and linear growth of 4-7-mo-old infants in developing countries: a four-country randomized trial.

The effect of supplementation on growth was tested by means of four similar controlled randomized trials in the Congo (n = 120), Senegal (n = 110), Bolivia (n = 127), and New Caledonia (n = 90). Four-month-old infants were randomly allocated to supplement or control groups. A cereal-based precooked porridge was offered twice daily for 3 mo and consumption was monitored.