Éditeur(s) : HAL CCSD Lippincott, Williams & Wilkins
Résumé : International audience
Among 103 patients with multidrug-resistant HIV who initiated raltegravir, etravirine, and darunavir/ritonavir-containing regimen in the ANRS 139 TRIO trial, 100 participated in extended follow-up and continued study treatment until week 96. Among them, 87 (87%) received an optimized background therapy including either nucleoside reverse transcriptase inhibitors or enfuvirtide, they were 78 (78%) at week 96. At week 96, 88% achieved durable virologic response (<50 copies/mL). CD4 response was maintained (median change of +150 cells/mm(3)). No major toxicity was reported. This triple drug combination showed sustained efficacy and thus should be strongly considered for patients with multiclass-resistant virus.
ISSN: 1525-4135

hal-00875207
https://hal.archives-ouvertes.fr/hal-00875207
DOI : 10.1097/QAI.0b013e31824bb720
PUBMED : 22293546

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
BACKGROUND: The potential interest of antifungal treatment of non-immunocompromized patients with sepsis, extra-digestive Candida colonization and multiple organ failure is unknown. It represents three-quarters of antifungals prescribed in Intensive Care Units. It may allow early treatment of invasive fungal infection in the incubation phase but expose patients to unnecessary antifungal treatments with subsequent cost and fungal selection pressure. As early diagnostic tests for invasive candidiasis are still considered to be insufficient, the potential interest in this strategy needs to be demonstrated. METHODS: This prospective multicenter, double blind, randomized-controlled trial is conducted in 23 French Intensive Care Units. All adult patients, mechanically ventilated for more than four days with sepsis of unknown origin and with at least one extradigestive fungal colonization site and multiple organ failure are eligible for randomization. Patients with proven invasive candidiasis are not included. After a complete mycological screening, patients are allocated to receive micafungin 100 mg intravenously once a day or placebo for 14 days. We plan to enroll 260 patients. The main objective is to demonstrate that micafungin increases survival of patients without invasive candidiasis at day 28 as compared to placebo. Other outcomes include day 28 and 90 survival and organ failure evolution. Additionally, pharmacokinetics of micafungin in enrolled patients will be measured and evolution of fungal biomarkers and susceptibility profiles of infecting fungi will also be followed. DISCUSSION: This study will help to provide guidelines for treating non-immunocompromized patients with fungal colonization multiple organ failure and sepsis of unknown origin.Trial registration: Clinicaltrials.gov number NCT01773876.
ISSN: 1745-6215

inserm-00913515
http://www.hal.inserm.fr/inserm-00913515
http://www.hal.inserm.fr/inserm-00913515/document
http://www.hal.inserm.fr/inserm-00913515/file/1745-6215-14-399.pdf
PUBMED : 24261608

Éditeur(s) : HAL CCSD Jasor
Résumé : International audience
L'ouvrage est une édition légèrement modifiée et enrichie des deux premiers chapitres de la thèse de doctorat "les Nègres en politique; couleur, identités et stratégies de pouvoir en Guadeloupe au tournant du siècle" (soutenue en 1997). Il décrit et analyse la construction des identités de couleur ainsi que la prégnance racialiste et raciste dans la société guadeloupéenne post-esclavage.L'ouvrage comporte une préface du Professeur Jean-Luc Bonniol et un avant-propos de l'auteur contextualisant la publication de cette étude réalisée une dizaine d'années avant le grand mouvement social de janvier-mars 2009
https://hal.univ-antilles.fr/hal-01616019

hal-01616019
https://hal.univ-antilles.fr/hal-01616019

Éditeur(s) : HAL CCSD American Geophysical Union (AGU)
Résumé : International audience
[1] Zircons and monazites from 6 samples of the North Ayilari dextral shear zone (NAsz), part of the Karakorum fault zone (KFZ), have been dated with the U-Th-Pb method, using both ID-TIMS and SIMS techniques. The ages reveal (1) inheritance from several events spanning a long period between the late Archean and the Jurassic; (2) an Eocene-Oligocene magmatic event (similar to 35-32 Ma); (3) an Oligo-Miocene magmatic event (similar to 25-22 Ma), at least partly synkinematic to the right-lateral deformation; and (4) a period of metamorphism metasomatism (similar to 22-14 Ma) interpreted as thermal and fluid advection in the shear zone. The Labhar Kangri granite located similar to 375 km farther Southeast along the KFZ is dated at 21.1 +/- 0.3 Ma. Such occurrence of several Oligo-Miocene granites along the KFZ, some of which show evidence for synkinematic emplacement, suggests that the fault zone played an important role in the genesis and /or collection of crustal melts. We discuss several scenarios for the onset and propagation of the KFZ, and offset estimates based on the main sutures zones. Our preferred scenario is an Oligo-Miocene initiation of the fault close to the NA range, and propagation along most of its length prior to similar to 19 Ma. In its southern half, the averaged long-term fault-rate of the KFZ is greater than 8 to 10 mm/a, in good agreement with some shorter-term estimates based on the Indus river course, or Quaternary moraines and geodesy. Our results show the KFZ cannot be considered as a small transient fault but played a major role in the collision history.
ISSN: 0278-7407

hal-00412570
https://hal.archives-ouvertes.fr/hal-00412570
DOI : 10.1029/2007TC002184

Éditeur(s) : HAL CCSD Unesco Publishing
Résumé : International audience
General History of The Caribbean

hal-01616024
https://hal.univ-antilles.fr/hal-01616024

Résumé : La rénovation urbaine de Pointe-à-Pitre (1961-1981) fut l'une des plus vastes jamais menée en France entre 1961 et 1981 et la première programmée en outre-mer. Elle avait pour but de répondre à la crise du logement et de réhabiliter des quartiers de cases insalubres qui s'étaient étendus de façon non maîtrisée sur des marécages situés autour de la ville. Cette rénovation urbaine ne fut pas simplement une opération d'aménagement car elle servit de front pionnier et de laboratoire aux acteurs de la composition urbaine en outre-mer par la mise en place d'organismes publics à qui l'État confia une compétence fonctionnelle pour aménager le territoire. A cette occasion furent introduits en Guadeloupe, une nouvelle architecture et un nouvel urbanisme retlet de la modernité.
Urban renewal of Pointe-à-Pitre (1961-1981) was one of the 1argcstever conducted in France during the years (1961- . 1981) and the fust programmed overseas territories. 1'0 respond to the housing crisis and renovate parts of unhealthy ceUsthat had spread in an uncontroUed manner on wetlands located around the city it was intended to. Urban renewal was not simply a development operations because it served as a frontier laboratory and the actors of the urban composition overseas by sctting up public bodies to which the State gave a functional competence develop the territory. On this occasion were introduced in Guadeloupe, a new architecture and new urbanism reflection of modernity.

http://www.theses.fr/2013AGUY0615/document

Éditeur(s) : HAL CCSD le factotum
Résumé : International audience
Article accompagnant un ouvrage de photographies d'art sur le carnaval guadeloupéen
Mi Mas Gwadloup

hal-01618478
https://hal.univ-antilles.fr/hal-01618478

Éditeur(s) : HAL CCSD Oxford University Press (OUP)
Résumé : International audience
ISSN: 0305-7453

hal-01470808
https://hal.archives-ouvertes.fr/hal-01470808
DOI : 10.1093/jac/dkw352
PUBMED : 27609051

Éditeur(s) : HAL CCSD American Medical Association (AMA)
Résumé : International audience
IMPORTANCE Although frequently used in treating intensive care unit (ICU) patients with sepsis, empirical antifungal therapy, initiated for suspected fungal infection, has not been shown to improve outcome. OBJECTIVE To determine whether empirical micafungin reduces invasive fungal infection (IFI)-free survival at day 28. DESIGN, SETTING, AND PARTICIPANTS Multicenter double-blind placebo-controlled study of 260 nonneutropenic, nontransplanted, critically ill patients with ICU-acquired sepsis, multiple Candida colonization, multiple organ failure, exposed to broad-spectrum antibacterial agents, and enrolled between July 2012 and February 2015 in 19 French ICUs. INTERVENTIONS Empirical treatment with micafungin (100mg, once daily, for 14 days) (n = 131) vs placebo (n = 129). MAIN OUTCOMES AND MEASURES The primary end pointwas survival without proven IFI 28 days after randomization. Key secondary end points included new proven fungal infections, survival at day 28 and day 90, organ failure, serum (1-3)-beta-D-glucan level evolution, and incidence of ventilator-associated bacterial pneumonia. RESULTS Among 260 patients (mean age 63 years; 91 [35%] women), 251 (128, micafungin group; 123, placebo group) were included in the modified intent-to-treat analysis. Median values were 8 for Sequential Organ Failure Assessment (SOFA) score, 3 for number of Candida-colonized sites, and 99 pg/mL for level of (1-3)-beta-D-glucan. On day 28, there were 82 (68%) patients in the micafungin group vs 79 (60.2%) in the placebo group who were alive and IFI free (hazard ratio [HR], 1.35 [95% CI, 0.87-2.08]). Results were similar among patients with a (1-3)-beta-D-glucan level of greater than 80 pg/mL (n = 175; HR, 1.41 [95% CI, 0.85-2.33]). Day-28 IFI-free survival in patients with a high SOFA score (> 8) was not significantly different when compared between the micafungin vs placebo groups (HR, 1.69 [95% CI, 0.96-2.94]). Use of empirical micafungin decreased the rate of new invasive fungal infection in 4 of 128 patients (3%) in the micafungin group vs placebo (15/123 patients [12%]) (P =.008). CONCLUSIONS AND RELEVANCE Among nonneutropenic critically ill patients with ICU-acquired sepsis, Candida species colonization at multiple sites, and multiple organ failure, empirical treatment with micafungin, compared with placebo, did not increase fungal infection-free survival at day 28.
ISSN: 0098-7484

hal-01405822
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01405822
DOI : 10.1001/jama.2016.14655
PUBMED : 27706483

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
Implication of immune processes in bipolar disorder (BD) has recently gained increasing attention. Tolerogenic molecules, among which HLA-G plays a prominent role, mediate the modulation of such processes. The HLA-G locus is characterized by a high number of polymorphisms including a functionally relevant 14 base pair (bp) insertion/deletion (Ins/Del) allele affecting the HLA-G expression. Here, we analyzed the distribution of this polymorphism in 561 BD patients and 161 healthy and found that the HLA-G 14bp Ins/Ins genotype was significantly more prevalent in healthy controls than in patients (corrected p; pc=0.032) and that the prevalence of such protective genotype is lower among patients born during the winter season as compared to those born in other periods (pc=0.006). Possible mechanisms between low HLA G expression and resistance to infections as well as potential relationships between infections in early life and susceptibility to BD are discussed.
ISSN: 0198-8859

inserm-00864639
http://www.hal.inserm.fr/inserm-00864639
http://www.hal.inserm.fr/inserm-00864639/document
http://www.hal.inserm.fr/inserm-00864639/file/HLA-G_and_BD_manuscript_-1.pdf
DOI : 10.1016/j.humimm.2012.11.032

Éditeur(s) : HAL CCSD Météo et Climat
Résumé : International audience
The Convective and Orographically- induced Precipitation Study (COPS) is a coordinated international project, comprised of an observational field campaign and a research programme aiming to advance the quality of fore- casts of orographically-induced pre- cipitation by four-dimensional obser- vations and modelling of its life cycle. The COPS field campaign took place during June-July-August 2007 over eastern France and south-western Germany. Its main objective was to provide an unprecedented comprehen- sive set of in situ and remotely-sensed meteorological observations of the entire depth of the troposphere. After a short overview of the project, the paper focuses on the French contribution to the COPS field phase, describes the experimental setup and highlights some key observations.
L’étude des précipitations convectives induites par l’orographie (Cops selon l’acronyme anglais) est un projet inter- national coordonné qui comprend une campagne d’observations de terrain et un programme scientifique et qui vise à améliorer la qualité des prévisions des précipitations orographiques convectives à la fois par l’observation quadridimensionnelle et la modélisa- tion de leur cycle de vie. La campagne de terrain s’est déroulée en juin-juillet- août 2007 sur l’est de la France et le sud-ouest de l’Allemagne. Son objectif majeur était de fournir un jeu d’obser- vations météorologiques, in situ et à distance, aussi complet que possible et sur toute la profondeur de la colonne troposphérique.Après une brève revue d’ensemble du projet, l’article se concentre sur la contribution française à la campagne Cops, décrit le dispositif expérimental mis en œuvre et met en valeur quelques observations clés.
ISSN: 0026-1181

insu-01504075
https://hal-insu.archives-ouvertes.fr/insu-01504075
https://hal-insu.archives-ouvertes.fr/insu-01504075/document
https://hal-insu.archives-ouvertes.fr/insu-01504075/file/meteo_2009_64_32.pdf
DOI : 10.4267/2042/23632

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
BACKGROUND: In the context of recent guidelines on invasive candidiasis (IC), how French intensive care units (ICUs) are managing IC? METHODS: This is a prospective observational multicenter cohort study. During 1 year (2012-2013), 87 French ICUs enrolled consecutive patients with suspected or proven IC (SIC or PIC) and receiving systemic antifungal therapy (SAT). Data were collected up to 28 days after inclusion. RESULTS: We studied 835 patients, 291 with PIC and 544 with SIC. At SAT initiation, patients with SIC were significantly more severe (SAPS II 50.1 ± 18.7 vs. 46.2 ± 18.0). Severe sepsis or septic shock prompted to initiate empiric SAT in 70 % of SIC. Within 4 days in median, the initial SAT was modified in 49 % of patients with PIC vs. 33 % patients with SIC. Modifications were most often motivated by mycological results, and de-escalation was the most frequent change. Regarding compliance to IC management guidelines, echinocandin was used for 182 (62.5 %) patients with PIC, and 287 (52.7 %) of those with SIC; central venous catheter was removed in 87 (54.3 %) of patients with candidaemia, and 43 of the remaining patients received echinocandin; and de-escalation was undertaken after 5 days of SAT in 142 patients, after 10 days in 13 patients. As 20.6 % of SIC were secondarily documented, 403/835 (48 %) patients had finally a proven IC. Candida albicans was the main pathogen (65.3 %), then Candida glabrata (15.9 %). The 28-day mortality rates were 40.0 % in candidaemia, 25.4 % in cIAI, and 26.7 % in deep-seated candidiasis. In the overall population of patients with proven IC, four independent prognostic factors were identified: immunosuppression (Odds Ratio (OR) = 1.977: 1.03-3.794 95 % confidence interval (CI), p = 0.04), age (OR = 1.035; 1.017-1.053 95 % CI; p  extless 0.001), SAPS extgreater46 on ICU admission (OR = 2.894; 1.81-4.626 95 % CI; p  extless 0.001), and surgery just before or during ICU stay (OR = 0.473; 0.29-0.77 95 % CI; p  extless 0.001). CONCLUSION: When SAT is initiated in French ICUs, the IC is ultimately proven for 48 % of patients. Empiric SAT is initiated in severely ill ICU patients. The initial SAT is often adapted, with de-escalation to fluconazole when possible. Mortality rate remains high
ISSN: 2110-5820

hal-01259216
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01259216
DOI : 10.1186/s13613-015-0103-7
PUBMED : 26743881

Éditeur(s) : HAL CCSD Editions Jasor
Résumé : International audience
https://hal.univ-antilles.fr/hal-01613605

hal-01613605
https://hal.univ-antilles.fr/hal-01613605

Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene. We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature. Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.
ISSN: 1098-3600

hal-01134364
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134364
DOI : 10.1038/gim.2015.29
PUBMED : 25790162

Éditeur(s) : HAL CCSD Mary Ann Liebert
Résumé : International audience
Little information is available on the molecular epidemiologic profile of HIV-1 in French Guiana, the French department with the highest HIV/AIDS incidence. To follow the evolution of HIV-1 diversity, we carried out a molecular analysis of HIV-1 isolates from 305 treatment-naive patients between 2006 and 2012. Protease and reverse-transcriptase sequences were obtained for subtype characterization, polymorphism analysis, and identification of drug resistance mutations. Of 305 HIV-1 strains, 95.1% were subtype B viruses. The overall prevalence of transmitted drug-resistance mutations (TDRMs) was 4.6% (14/305), ranging from 1.9% to 7.1% depending on the year. This study shows a low level of HIV-1 genetic diversity and a moderate prevalence of TDRMs with no evidence of an increasing trend over the study period. Nevertheless, the strong genetic polymorphism observed on both genes may be of concern for long-term treatment of people living with HIV-1 and thus deserves continuous monitoring.
ISSN: 0889-2229

pasteur-01583613
https://hal-riip.archives-ouvertes.fr/pasteur-01583613
https://hal-riip.archives-ouvertes.fr/pasteur-01583613/document
https://hal-riip.archives-ouvertes.fr/pasteur-01583613/file/2016%20Darcissac%20et%20al.%20ARHR.pdf
DOI : 10.1089/aid.2016.0048

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
In intrauterine pregnancies of uncertain viability with a gestational sac without a yolk sac (with a mean of three orthogonal transvaginal ultrasound measurements <25 mm), the suspected pregnancy loss should only be confirmed after a follow-up scan at least 14 days later shows no embryo with cardiac activity (Grade C). In intrauterine pregnancies of uncertain viability with an embryo <7 mm on transvaginal ultrasound, the suspected pregnancy loss should only be confirmed after a follow-up scan at least 7 days later (Grade C). In pregnancies of unknown location after transvaginal ultrasound (i.e. not visible in the uterus), a threshold of at least 3510 IU/l for the serum human chorionic gonadotrophin assay is recommended; above that level, a viable intrauterine pregnancy can be ruled out (Grade C). Postponing conception after an early miscarriage in women who want a new pregnancy is not recommended (Grade A). A work-up for women with recurrent pregnancy loss should include the following: diabetes (Grade A), antiphospholipid syndrome (Grade A), hypothyroidism with anti-thyroid peroxidase (anti-TPO) and anti-thyroglobulin (anti-Tg) antibodies (Grade A), vitamin deficiencies (B9, B12) (Grade C), hyperhomocysteinaemia (Grade C), hyperprolactinaemia (Grade B), diminished ovarian reserve (Grade C), and a uterine malformation or an acquired uterine abnormality amenable to surgical treatment (Grade C). The treatment options recommended for women with a missed early miscarriage are vacuum aspiration (Grade A) or misoprostol (Grade B); and the treatment options recommended for women with an incomplete early miscarriage are vacuum aspiration (Grade A) or expectant management (Grade A). In the absence of both chorioamnionitis and rupture of the membranes, women with a threatened late miscarriage and an open cervix, with or without protrusion of the amniotic sac into the vagina, should receive McDonald cerclage, tocolysis with indomethacin, and antibiotics (Grade C). Among women with a threatened late miscarriage and an isolated undilated shortened cervix (<25 mm on ultrasound), cerclage is only indicated for those with a history of either late miscarriage or preterm delivery (Grade A). Among women with a threatened late miscarriage, an isolated undilated shortened cervix (<25 mm on ultrasound) and no uterine contractions, daily treatment with vaginal progesterone up to 34 weeks of gestation is recommended (Grade A). Hysteroscopic section of the septum is recommended for women with a uterine septum and a history of late miscarriage (Grade C). Correction of acquired abnormalities of the uterine cavity (e.g. polyps, myomas, synechiae) is recommended after three early or late miscarriages (Grade C). Prophylactic cerclage is recommended for women with a history of three late miscarriages or preterm deliveries (Grade B). Low-dose aspirin and low-molecular-weight heparin at a preventive dose are recommended for women with obstetric antiphospholipid syndrome (Grade A). Glycaemic levels should be controlled before conception in women with diabetes (Grade A)
ISSN: 0301-2115

hal-01295639
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01295639
DOI : 10.1016/j.ejogrb.2016.02.015
PUBMED : 27039249

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
Ocean island basalts (OIB) from the Comores archipelago (Indian Ocean) display mineralogical and geochemical features different from the other Indian OIB. We present here new geochronological data (40Ar/39Ar), major and trace element compositions and isotopic (Sr, Nd, Pb) ratios of silica-undersaturated alkaline rocks from Mayotte, the oldest island of the Comores. Two trends are defined using major element composition: (1) a highly silica-undersaturated trend which includes basanites, (melilite-bearing) nephelinites, intermediate lavas and phonolites from the southern part of the island and (2) a moderately silica-undersaturated trend which is mainly represented by alkali basalts, basanites, intermediate lavas and phonolites from the northern part of the island. Both trends could be explained, to some extent, by variable degrees of partial melting. Normative larnite-bearing olivine melilitites and nephelinites exhibit, in addition to their high silica-undersaturation, elevated concentrations in CaO (>12wt.%) and P2O5 (up to 1.35wt.%). These exceptional rocks would result from low degree deep partial melting of a CO2-metasomatized source in the presence of carbonate (probably dolomite) and apatite. Igneous rocks from southern and northwestern shield volcanoes are characterized by a radiogenic Pb composition, revealing the existence of a HIMU (high μ=238U/204Pb) component in their source. Its influence decreases from the main building stage (>10.6-~3.0Ma) to the post-shield stage for the benefit of a depleted MORB-mantle (DMM) component, especially in the north central rocks. This feature would reflect increasing melting degrees of the depleted dominant source, bearing small-scale HIMU heterogeneities progressively consumed with time. The HIMU signature might have been introduced in the Comorian lithospheric mantle by thermal erosion or delamination of a continental lithosphere during the Gondwana break-up. The other islands of the Comores archipelago (Moheli, Anjouan and "La Grille" type lavas from Grande Comore) display also a DMM-HIMU mixing trend. Only a few lavas from Grande Comore ("Karthala" type) and one sample from Mayotte show the clear EM1 contribution (87Sr/86Sr>0.7035) of the Comorian plume.
ISSN: 0024-4937

insu-01089376
https://hal-insu.archives-ouvertes.fr/insu-01089376
https://hal-insu.archives-ouvertes.fr/insu-01089376/document
https://hal-insu.archives-ouvertes.fr/insu-01089376/file/Pelleter%20et%20al%201.pdf
DOI : 10.1016/j.lithos.2014.09.012

Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvular arterial stenosis. Twenty-two variants were found, but segregation analysis confirmed unambiguously the causality of 16 variants: GATA4 (1 x), NKX2-5 (6 x), ZIC3 (3 x), MLPA (2 x) and ELN (4 x). Therefore, this approach was able to identify the causal variant in 10.4% of familial CHD cases. This study demonstrated the existence of a de novo variant even in familial CHD cases and the impact of CHD variants on adult cardiac condition even in the absence of CHD. This study showed that the systematic screening of genetic factors is useful in familial CHD cases with up to 10.4% elucidated cases. When successful, it drastically improved genetic counseling by discovering unaffected variant carriers who are at risk of transmitting their variant and are also exposed to develop cardiac complications during adulthood thus prompting long-term cardiac follow-up. This study provides an important baseline at dawning of the next-generation sequencing era.
ISSN: 1018-4813

hal-01404211
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01404211
DOI : 10.1038/ejhg.2015.105
PUBMED : 26014430

Éditeur(s) : HAL CCSD AGU and the Geochemical Society
Résumé : International audience
[1] Large changes in magnetic mineral concentration dependent parameters by more than 1 order of magnitude occur over 50–150 cm intervals in two marine sediment cores from the oxygen minimum zone in the Gulf of Aden. High-resolution sedimentological and chemical analyses indicate that these intervals are not associated with turbiditic events or sediment reworking, they do not result from changes in carbonate dilution or differences in sediment properties, and they do not correspond to volcanic layers. Magnetic mineralogical analyses reveal a change in magnetic mineral concentration from a magnetite-goethite assemblage to pure magnetite within the peak. The peaks almost disappear when the abundance of magnetic minerals is calculated after correcting for the magnetic moments of each magnetic mineral. Therefore, under the assumption that the variability of the magnetic parameters results from postdepositional mineralogical transformations, a relatively constant amount of magnetite was present at the surface of the sediment. Changes in redox conditions and nonsteady state diagenesis transformations have effectively been observed along both cores. Large values of total organic carbon coincide with poor preservation of biogenic and detrital magnetite, which reflects reductive dissolution of the finer magnetite grains. At the same levels, Fe 2þ release from reductively dissolved magnetite favored precipitation of goethite. The susceptibility peaks coincide with episodes of magnetite preservation caused by reduced surface
ISSN: 1525-2027

insu-01311064
https://hal-insu.archives-ouvertes.fr/insu-01311064
https://hal-insu.archives-ouvertes.fr/insu-01311064/document
https://hal-insu.archives-ouvertes.fr/insu-01311064/file/ggge2013-14-3779-bouilloux.pdf
DOI : 10.1002/ggge.20234

Éditeur(s) : HAL CCSD American Diabetes Association
Résumé : International audience
OBJECTIVE: To compare incidences and risk factors for diabetes using seven definitions, with combinations of pharmacological treatment, fasting plasma glucose (FPG) ≥7.0 mmol/L, and HbA(1c) ≥6.5%. RESEARCH DESIGN AND METHODS: Participants aged 30-65 years from the Data from an Epidemiological Study on the Insulin Resistance Syndrome (DESIR) cohort were followed for 9 years. RESULTS: More men had incident diabetes as defined by FPG ≥7.0 mmol/L and/or treatment than by HbA(1c) ≥6.5% and/or treatment: 7.5% (140/1,867) and 5.3% (99/1,874), respectively (P < 0.009); for women incidences were similar: 3.2% (63/1,958) and 3.4% (66/1,954). Known risk factors predicted diabetes for almost all definitions. Among those with incident diabetes by FPG alone versus HbA(1c) alone, there were more men (78 vs. 35%), case patients were 8 years younger, and fewer were alcohol abstainers (12 vs. 35%) (all P < 0.005). A diabetes risk score discriminated well between those with and without incident diabetes for all definitions. CONCLUSIONS: In men, FPG definitions yielded more incident cases of diabetes than HbA(1c) definitions, in contrast with women. An FPG-derived risk score remained relevant for HbA(1c)-defined diabetes.
Diabetes Care

inserm-00739799
http://www.hal.inserm.fr/inserm-00739799
http://www.hal.inserm.fr/inserm-00739799/document
DOI : 10.2337/dc10-1581
PUBMED : 21346181