Heterozygous variant as a novel genetic cause of telomere biology disorders.

Premature telomere shortening or telomere instability is associated with a group of rare and heterogeneous diseases collectively known as telomere biology disorders (TBDs). Here we identified two unrelated individuals with clinical manifestations of TBDs and short telomeres associated with the identical monoallelic variant c.767A>G; Y256C in Although the replication protein A2 (RPA2) mutant did not affect ssDNA binding and G-quadruplex-unfolding properties of RPA, the mutation reduced the affinity of RPA2 with the ubiquitin ligase RFWD3 and reduced RPA ubiquitination.

A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle.

Background: Nine male and eight female calves born to a Normande artificial insemination bull named "Ly" were referred to the French National Observatory of Bovine Abnormalities for multiple fractures, shortened gestation, and stillbirth or perinatal mortality.

Results: Using Illumina BovineSNP50 array genotypes from affected calves and 84 half-sib controls, the associated locus was mapped to a 6.5-Mb interval on chromosome 19, assuming autosomal inheritance with germline mosaicism.

Coconut genome assembly enables evolutionary analysis of palms and highlights signaling pathways involved in salt tolerance.

Coconut (Cocos nucifera) is the emblematic palm of tropical coastal areas all around the globe. It provides vital resources to millions of farmers. In an effort to better understand its evolutionary history and to develop genomic tools for its improvement, a sequence draft was recently released.

Intimate ties of people living with HIV in France resulted both from social status and the experience of being HIV-infected: results from the ANRS-Vespa2 study, France.

Based on data from the ANRS-Vespa2 study, conducted among a representative sample of PLWHIV (France, 2011), we studied intimate ties with relatives and friends and their determinants. Six social network profiles were identified, with a clear association with socioepidemiological groups: the most surrounded individuals were MSM, and the most isolated ones were sub-Saharan African migrants (especially women). Social networks were shaped both by material socioeconomic status and HIV experience: involvement in PLWHIV organizations, disclosure of HIV infection, and the experience of discrimination.

Using TropGeneDB: A Database Containing Data on Molecular Markers, QTLs, Maps, Genotypes, and Phenotypes for Tropical Crops.

TropGeneDB ( http://tropgenedb.cirad.fr ) is a web database that manages genomic, genetic, and phenotypic information on tropical crops.

[Traffic accidentability and risky driving behavior in young people in New Caledonia. Results of study Situation Sociale et Comportements de Santé des Jeunes en Nouvelle-Calédonie].

Background: New Caledonia has one of the highest global rates of death from road accidents: 240 deaths per million inhabitants in 2011 with a majority of young people. However, research on driving behaviors has remained rare.

Methods: A cross-sectional survey based on face-to-face questionnaire with 1400 male and female youth aged 16 to 25 was conducted in 2007.

Women living with HIV still lack highly effective contraception: results from the ANRS VESPA2 study, France, 2011.

Objectives: Advances in antiretroviral treatment (ART) have led to improvements in reproductive health for women living with HIV. This paper aims to investigate the pattern of contraceptive use among women living with HIV in France.

Study Design: Data were drawn from the ANRS VESPA2 study, which included a representative sample of HIV-positive people.

Multiple discriminations experienced by people living with HIV in France: results from the ANRS-Vespa2 study.

Since the advent of AIDS, discrimination has remained at the core of the experience of people living with HIV (PLHIV). PLHIV who belong to minority groups are exposed to discrimination not only on the grounds of their HIV infection but also because of rejecting attitudes towards drug users, homosexuals and black people. This article aimed to measure the frequency of discrimination and assess its correlates among PLHIV in France.

Frequency and correlates of late presentation for HIV infection in France: older adults are a risk group - results from the ANRS-VESPA2 Study, France.

Correlates of late presentation (LP) for HIV infection in Metropolitan France and French overseas departments (FODs) were assessed among HIV-infected patients recently diagnosed, using data from a large cross-sectional survey, representative of the French HIV-infected population, conducted in 2011. LP was defined as presentation with either clinical AIDS events within the calendar year of diagnosis or CD4 < 350/mm(3) and presentation with advanced disease (PAD) was defined as presentation with either clinical AIDS events or CD4 < 200/mm(3). Correlates of LP/PAD were assessed through logistic modelling, separately in Metropolitan France and FODs.

The banana genome hub.

Banana is one of the world's favorite fruits and one of the most important crops for developing countries. The banana reference genome sequence (Musa acuminata) was recently released. Given the taxonomic position of Musa, the completed genomic sequence has particular comparative value to provide fresh insights about the evolution of the monocotyledons.

TropGeneDB, the multi-tropical crop information system updated and extended.

TropGeneDB (http://tropgenedb.cirad.fr) was created to store genetic, molecular and phenotypic data on tropical crop species.

Identification and verification of heat shock protein 60 as a potential serum marker for colorectal cancer.

Colorectal cancer (CRC) is a major public health issue worldwide, and novel tumor markers may contribute to its efficient management by helping in early detection, prognosis or surveillance of disease. The aim of our study was to identify new serum biomarkers for CRC, and we followed a phased biomarker discovery and validation process to obtain an accurate preliminary assessment of potential clinical utility. We compared colonic tumors and matched normal tissue from 15 CRC patients, using two-dimensional difference gel electrophoresis (2D-DIGE), and identified 17 proteins that had significant differential expression.

Childhood sexual abuse and adult sexual health among indigenous Kanak women and non-Kanak women of New Caledonia.

Objectives: Few studies have addressed the long-term consequences of adverse childhood experiences among women in Oceania, in particular among indigenous women. This paper aims to report prevalences of childhood sexual abuse (CSA) and to asses the negative sexual health consequences in adulthood by comparing indigenous Kanak to non-Kanak women in New Caledonia.

Methods: Data come from a population survey on violence against women and health.

Risk of autoimmune diabetes in APECED: association with short alleles of the 5'insulin VNTR.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disease causing a wide spectrum of autoimmune dysfunction potentially including diabetes of an autoimmune etiology. We have previously described a pair of discordant APECED siblings and pointed to a possible role of 5'insulin variable number of tandem repeats (VNTR) locus IDDM2 in the appearance of diabetes within this disease. In vitro studies have previously suggested that class I VNTR alleles were associated with decreased fetal thymic insulin expression.

Selective effect of burn injury on splenic CD11c(+) dendritic cells and CD8alpha(+)CD4(-)CD11c(+) dendritic cell subsets.

Burn injury causes an immunosuppression associated with suppressed adaptive immune function. Dendritic cells (DCs) are APCs for which signaling via their Toll-like receptors (TLRs) induces their maturation and activation, which is essential for the adaptive immune response. In this study, we examined if burn injury alters the TLR activity of splenic DCs.

Prenatal ozone exposure abolishes stress activation of Fos and tyrosine hydroxylase in the nucleus tractus solitarius of adult rat.

Ozone (O3) is widely distributed in the environment, with high levels of air pollution. However, very few studies have documented the effects on postnatal development of O3 during pregnancy. The long-term effects of prenatal O3 exposure in rats (0.

Childhood sexual abuse and adult binge drinking among Kanak women in New Caledonia.

The long-term consequences of violence against women are poorly documented within the context of political domination, economic inequalities and rapid social change of indigenous communities. Using data from the first population study on violence against women and their consequences on health in New Caledonia, South Pacific, this article investigates the association between childhood sexual abuse and binge drinking among 441 adult Kanak women. Face-to-face standardised interviews were conducted in 2002-2003, among women aged 18-54 years drawn from the electoral rolls.

HIV protection and screening in women in New Caledonia.

The paper examines HIV data in a Violence Against Women survey conducted in New Caledonia. A representative sample of 1012 women aged 18 to 54 were interviewed. It describes the effect on HIV prevention behavior of knowing someone who is HIV+ and examines condom use and other indicators of unprotected sexual behavior such as unwanted pregnancies and abortion.

Involvement of CD45 in DNA fragmentation in apoptosis induced by mitochondrial perturbing agents.

CD45 is a type I transmembrane molecule with phosphatase activity which comprises up to 10% of the cell surface area in nucleated haematopoietic cells. We have previously demonstrated the absence of nuclear apoptosis in CD45-negative T cells after chemical-induced apoptosis. The aim of this study was to characterize the role of CD45 in nuclear apoptosis.

Genomic imprinting in Turner syndrome: effects on response to growth hormone and on risk of sensorineural hearing loss.

Context: Evidence exists for X-linked parent-of-origin effects in Turner syndrome, because phenotypic and cognitive profiles differ between 45,X(maternal) and 45,X(paternal) individuals.

Objective And Design: We evaluated the parent-of-origin effect of the intact X chromosome on spontaneous growth, GH-stimulated height gain, and frequency of sensorineural hearing loss in 54 subjects with Turner syndrome recruited from a Canadian randomized, controlled trial of GH supplementation to adult height.

Methods And Results: Microsatellite analyses revealed that 72% of nonmosaic 45,X subjects retained an X(maternal), whereas 86% of nonmosaic 46,X,i(Xq) subjects carried an intact X(paternal).

Corticosterone binding globulin regulation and thymus changes after thermal injury in mice.

Thermal injury is extremely stressful, and data characterizing the systemic endocrine stress response to this injury are sparse. The objective of this study was to measure the effects of thermal injury on mice on corticosterone (Cort) levels in relation with corticosteroid-binding globulin (CBG) and thymus cell populations. The endocrine stress response was determined by measuring total Cort, free Cort, CBG binding capacity, liver CBG mRNA, and circulating CBG levels at 1, 2, 5, and 10 days postburn.

Burn injury induces a change in T cell homeostasis affecting preferentially CD4+ T cells.

Burn injuries are known to be associated with altered immune functions, resulting in decreased resistance to subsequent infection. In the present study, we determined the in vivo changes in T cell homeostasis following burn injury. Two groups of mice were used: a sham-burn group receiving buprenorphine as an analgesic and a burn group receiving buprenorphine and subjected to burn injury on 20% of the total body surface area.