Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
ISSN: 0003-4975

hal-01563338
http://hal.univ-brest.fr/hal-01563338
DOI : 10.1016/j.athoracsur.2016.03.093
PUBMED : 27262916

Éditeur(s) : s.n. s.n. ( Cap Français, Haiti? )
Résumé : Title from PDF t.p. (LLMC Digital, viewed on July 7, 2011)
Letter dated (p. 3): Au Cap, le 1er avril 1787.
"Les deux lettres [par M. le P. duP.] sont extraites d'un recueil de lettres manuscrites sur l'Italie. Celles-ci ont été publiées dans l'Essai sur la nature champêtre, par M. le marquis de Marnesia, & dans quelques journaux"--P. 17.
Haiti
Haiti
Haïti
Haïti
France
America
France
Amérique
France
Haiti

739670284
ocn739670284
http://ufdc.ufl.edu/AA00021604/00001

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
Aims: The aims of this study were to compare short-and long-term outcomes for clinical T2N0 oesophageal cancer with analysis of (i) primary surgery (S) versus neoadjuvant therapy plus surgery (NS), (ii) squamous cell carcinoma and adenocarcinoma subsets; and (iii) neoadjuvant chemoradiotherapy versus neoadjuvant chemotherapy.Methods: Data were collected from 30 European centres from 2000 to 2010. Among 2944 included patients, 355 patients (12.1%) had cT2N0 disease; 285 (S) and 70 (NS), were compared in terms of short-and long-term outcomes. Propensity score matching analyses were used to compensate for differences in baseline characteristics.Results: No significant differences between the groups were shown in terms of in hospital morbidity and mortality. Nodal disease was observed in 50% of S-group at the time of surgery, with 20% pN2/N3. Utilisation of neoadjuvant therapy was associated with significant tumour downstaging as reflected by increases in pT0, pN0 and pTNM stage 0 disease, this effect was further enhanced with neoadjuvant chemoradiotherapy. After adjustment on propensity score and confounding factors, for all patients and subset analysis of squamous cell and adenocarcinoma, neoadjuvant therapy had no significant effect upon survival or recurrence (overall, loco-regional, distant or mixed) compared to surgery alone. There were no significant differences between neoadjuvant chemotherapy and chemoradiotherapy in short-or long-term outcomes.Conclusion: The results of this study suggest that a surgery alone treatment approach should be recommended as the primary treatment approach for cT2N0 oesophageal cancer despite 50% of patients having nodal disease at the time of surgery.
ISSN: 0959-8049

hal-01666517
https://hal.univ-lorraine.fr/hal-01666517
DOI : 10.1016/j.ejca.2015.11.024

Éditeur(s) : HAL CCSD
Résumé : International audience
INTRODUCTION: The syndrome of combined pulmonary fibrosis and emphysema (CPFE) is characterized by imaging features consisting of the association of centrilobular and/or paraseptal emphysema and pulmonary fibrosis. Virtually all patients are smokers and thus at high risk of developing lung cancer. METHODS: This retrospective multicentre study was conducted by the Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P). RESULTS: A total of 47 patients presenting with lung cancer and CPFE syndrome were identified. All patients were smokers, with a mean of 47 pack-years. A pathological diagnosis of lung cancer was obtained for 38 (81%) patients. Histological type was squamous cell carcinoma in 17 (36%) patients, adenocarcinoma in 14 (30%), non-small-cell lung cancer not otherwise specified in three (6%), small-cell lung cancer in three (6%), and sarcomatoid carcinoma in one (2%). Overall, 20 of the 47 patients could not receive standard-of-care treatment for lung cancer, as per international recommendations or guidelines; this limitation was considered to be directly related to the CPFE syndrome in eight (40%) cases. CONCLUSION: Lung cancer in patients with CPFE syndrome represents a specific entity with a poor prognosis, that further represents the most characteristic and severe model of tobacco-related disease.
Journal of Thoracic Oncology: Official Publication of the International Association for the Study of Lung Cancer

hal-01063912
https://hal.archives-ouvertes.fr/hal-01063912
DOI : 10.1097/JTO.0000000000000209
PUBMED : 25157769

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

Résumé : in mollusc hatcheries. Consequently, we assessed themost commonly used species to establish their growth and size profiles, their cytomorphological, biochemical, biomolecular identification as well as their cytometer signs, and also their ability to grow under extreme conditions of temperature and salinity. This work aimed at matching the conformity of the strains used in Argenton (dispatched to most of the French commercial hatcheries) to those of a referenced culture collection. A previous screening preceded this study, because of the 45 species and/or clones held originally, Argenton kept no more than 15 species. As most of the latter are also represented in referenced collection, our strains are therefore correctly identified. On the other hand, the combination of several approaches (characteristic of growth and size, cytomorphological description, establishment of biochemical and biomolecular profiles) to discriminate the different species was broadly successful. Nevertheless, flow cytometer measurements were extremely variable from sample to sample, dueto their high sensitivity to the microalga's physiological state. Accordingly, we have developed a method of identification which could be transferred at a national or international level, to the Institutions in charge of microalgae collections. Furthermore, we achieved relevant data to establish an identity card for each of the microalgae suitable for mollusc hatcheries.
La caractérisation des microalgues fourrage constituait l'un des points perfectibles au regard de ce qui est appliquée en microbiologie. Nous avons alors cherché à définir, pour les espèces les plus utilisées en écloserie, leurs profils de croissance et de taille, leur caractéristiques cytomorphologique, cytofluorimétrique, biochimique et biomoléculaire, et enfin, précisé leur aptitude au développement sous des conditions extrêmes de température et de salinité (écotolérance). Ce travail avait pour but de vérifier, d'une part, la conformité des souches utilisées à l'écloserie d'Argenton (auprès de laquelle se fournissent la plupart des écloseries commerciales françaises) en comparant les espèces utilisées à celles issues d'une collection référencée. Un premier balayage avait été réalisé avant la mise en place de cette étude puisque sur les 45 espèces et clones détenus originellement, Argenton ne possédait plus que 15 espèces. La plupart de ces dernières ayant leur équivalent en collection référencée notre souchier est désormais parfaitement identifiée. D'autre part, la confrontation de plusieurs approches, caractéristique de la croissance et de taille, description cytomorphologique, établissement des profils biochimique et biomoléculaire, écotolérance, signature cytofluorimétrique, pour discriminer les différentes espèces de microalgues fourrage a été globalement couronnée de succès. Seule cette dernière technique n'a pas permis de caractériser les espèces entre elles, les paramètres mesurés en cytométrie de flux étant particulièrement sensibles à l'état physiologique des microalgues, très variable d'un échantillon à un autre. Nous disposons dorénavant d'une méthode d'identification qu'il serait souhaitable de transférer, au niveau national voire international, auprès des organismes en charge des collections. De plus, nous disposons dorénavant de données pertinentes pour établir pour chacune des microalgues d'intérêt aquacole une véritable carte d'identité.

Droits : info:eu-repo/semantics/openAccess
http://archimer.ifremer.fr/doc/2004/rapport-1546.pdf
http://archimer.ifremer.fr/doc/00000/1546/

Éditeur(s) : Elsevier
Résumé : We studied the effects of a lactic acid bacterium, Pediococcus acidilactici (strain MA 18/5M, CNCM), as a dietary probiotic on growth performance and some nutritional and microbiological aspects of the shrimp Litopenaeus stylirostris. Experimental shrimp culture was carried out over 10 weeks, using floating cages of 14 m(2) each set in earthen ponds, in a New Caledonia farm affected by "Summer syndrome", a septicaemic vibriosis caused by Vibrio nigripulchritudo. The experiment design testing probiotic-coated pellets against control was replicated in two earthen ponds. High mortalities, characteristic of Summer syndrome, were observed during the first 2 weeks of the trial. The probiotic improved production in the treated cages from both ponds with increases in the survival rate (7% and 15% respectively) and final biomass (8% and 12% respectively). No differences were recorded among treatments on growth performances, but significant lower food conversion ratios were obtained with probiotic treatment. After 5 weeks of rearing, the Hepatosomatic Index and the adjusted dry weight of the digestive gland were significantly increased by 10% and by 9% respectively in shrimps treated with probiotic. In the meantime, the specific activities of alpha amylase and trypsin in the digestive gland showed a significant effect of the probiotic treatment with respective increases by 35% and 55%. The rise in total trypsin activity following morning feeding was also enhanced by the probiotic treatment (P < 0.001). The highest concentration of probiotic (between 10(4)-10(5) CFU g(-1) of fresh gut) in the shrimp gut was obtained 2 h after feeding. The concentration remained high for 4 h after feeding before decreasing until the next meal. Total bacterial counts on Marine agar and TCBS in the gut were significantly lowered by the probiotic treatment over the 10 weeks of the experiment. Additionally, during the first 2 weeks, prevalence and load of V nigripulchritudo strains in haemolymph was lower in animals fed with the probiotic diet. This study demonstrated, under pond conditions, that feeding shrimp with live terrestrial lactic acid bacteria can be an effective treatment for improving shrimp culture affected by vibriosis. (c) 2008 Elsevier B.V. All rights reserved.
Aquaculture (0044-8486) (Elsevier), 2008-03 , Vol. 275 , N. 1-4 , P. 182-193

Droits : 2008 Elsevier B.V. All rights reserved.
http://archimer.ifremer.fr/doc/2008/publication-4079.pdf
DOI:10.1016/j.aquaculture.2008.01.011
http://archimer.ifremer.fr/doc/00000/4079/

Éditeur(s) : HAL CCSD
Résumé : International audience
Up-to-date estimates of the health outcomes of preterm children are needed for assessing perinatal care, informing parents, making decisions about care, and providing evidence for clinical guidelines. To determine survival and neonatal morbidity of infants born from 22 through 34 completed weeks' gestation in France in 2011 and compare these outcomes with a comparable cohort in 1997. The EPIPAGE-2 study is a national, prospective, population-based cohort study conducted in all maternity and neonatal units in France in 2011. A total of 2205 births (stillbirths and live births) and terminations of pregnancy at 22 through 26 weeks' gestation, 3257 at 27 through 31 weeks, and 1234 at 32 through 34 weeks were studied. Cohort data were collected from January 1 through December 31, 1997, and from March 28 through December 31, 2011. Analyses for 1997 were run for the entire year and then separately for April to December; the rates for survival and morbidities did not differ. Data are therefore presented for the whole year in 1997 and the 8-month and 6-month periods in 2011. Survival to discharge and survival without any of the following adverse outcomes: grade III or IV intraventricular hemorrhage, cystic periventricular leukomalacia, severe bronchopulmonary dysplasia, retinopathy of prematurity (stage 3 or higher), or necrotizing enterocolitis (stages 2-3). A total of 0.7% of infants born before 24 weeks' gestation survived to discharge: 31.2% of those born at 24 weeks, 59.1% at 25 weeks, and 75.3% at 26 weeks. Survival rates were 93.6% at 27 through 31 weeks and 98.9% at 32 through 34 weeks. Infants discharged home without severe neonatal morbidity represented 0% at 23 weeks, 11.6% at 24 weeks, 30.0% at 25 weeks, 47.5% at 26 weeks, 81.3% at 27 through 31 weeks, and 96.8% at 32 through 34 weeks. Compared with 1997, the proportion of infants surviving without severe morbidity in 2011 increased by 14.4% (P < .001) at 25 through 29 weeks and 6% (P < .001) at 30 through 31 weeks but did not change appreciably for those born at less than 25 weeks. The rates of antenatal corticosteroid use, induced preterm deliveries, cesarean deliveries, and surfactant use increased significantly in all gestational-age groups, except at 22 through 23 weeks. The substantial improvement in survival in France for newborns born at 25 through 31 weeks' gestation was accompanied by an important reduction in severe morbidity, but survival remained rare before 25 weeks. Although improvement in survival at extremely low gestational age may be possible, its effect on long-term outcomes requires further studies. The long-term results of the EPIPAGE-2 study will be informative in this regard.
ISSN: 2168-6211

hal-01258705
http://hal.univ-brest.fr/hal-01258705
PUBMED : 25621457
DOI : 10.1001/jamapediatrics.2014.3351

Résumé : Larval mortalities occurring in molluscan hatcheries have often been associated with bacterial contamination. Although batches of oyster and clam larvae have been routinely reared in the hatchery of Argenton without antibiotics, high larval mortalities have been recorded with Pecten maxirnus under similar conditions. For this species, an addition of chloramphenicol was found necessary. However, this chemical has now been banned in Europe. Thus either substitition products or an improvement in the rearing procedures is essential. Studies carried out have shown that neither a decrease in larval density (1 larvae. ml"l) nor sea water change frequency (1 per day) had any positive effects. Furthermore, elective substances such as sugars were not suitable and the use of another antibiotic, erytromvcine. led to inconsistent results-
En ecloserie de mollusques, les mortalités larvaires sont souvent associées à des proliférations bactériennes. Pour les limiter un traitement de l'eau est incontournable et chez certaines espèces, dont la coquille St Jacques Pecten maximus, l'utilisation de chloramphenicol s'avère nécessaire. Or son usage dans les productions animales a été récemment prohibé par la communauté européenne. Afin de pallier à cette interdiction, l'amélioration des procédures zootechniques ainsi que l'utilisation de produits de substitution ont été effectuées. Quel que soit le procédé envisagé, abaissement de la densité en élevage, augmentation de la fréquence du renouvellement de l'eau d'élevage, mise au point de filtres biologiques, utilisation de substances électives, les élevages larvaires n'ont pu être menés à terme. A l'inverse, de bons développement larvaires ont été obtenus avec adjonction d'érythromycine mais ces résultats ne sont pas suffisamment reproductibles pour que cet antibiotique constitue un produit de substitution efficace.

Droits : info:eu-repo/semantics/openAccess
http://archimer.ifremer.fr/doc/1995/rapport-1568.pdf
http://archimer.ifremer.fr/doc/00000/1568/

Éditeur(s) : HAL CCSD
Résumé : International audience
Idiopathic pulmonary fibrosis (IPF) is the most frequent chronic idiopathic interstitial pneumonia in adults. The management of rare diseases in France has been organised by a national plan for rare diseases, which endorsed a network of expert centres for rare diseases throughout France. This article is an overview of the executive summary of the French guidelines for the management of IPF, an initiative that emanated from the French National Reference Centre and the Network of Regional Competence Centres for Rare Lung Diseases. This review aims at providing pulmonologists with a document that: 1) combines the current available evidence; 2) reviews practical modalities of diagnosis and management of IPF; and 3) is adapted to everyday medical practice. The French practical guidelines result from the combined efforts of a coordination committee, a writing committee and a multidisciplinary review panel, following recommendations from the Haute Autorité de Santé. All recommendations included in this article received at least 90% agreement by the reviewing panel. Herein, we summarise the main conclusions and practical recommendations of the French guidelines.
Eur Respir Rev

hal-01063982
https://hal.archives-ouvertes.fr/hal-01063982
DOI : 10.1183/09059180.00001814
PUBMED : 24881074

Éditeur(s) : Elsevier
Résumé : Vibrio tapetis is the marine bacterium responsible for the brown ring disease (BRD) affecting die manila clam, Ruditapes philippinarum. Identification of V tapelis has been previously performed using biochemical criteria and serological procedures. All of these methods are time consuming and ill-adapted to individual screening. This study describes an oligonucleotidic probe (Vt446) and two PCR primers, deduced from the 16S rDNA sequence, allowing a fast and specific V tapetis identification using dot blot hybridisation and species-specific primed PCR (SSP-PCR). The probe and primers have been tested on 60 strains, including referenced Vibrio sp., Gram negative and positive bacteria, marine bacteria samples and isolated clam bacteria. For all the 19 V tapetis strains, the results of PCR assays consistently corroborated those of the agglutination tests. The detection limit was estimated to be 10(2) CFU ml(-1). The SSP-PCR method has resulted in V tapetis detection in larvae, m diseased clams, and in asymptomatic broodstock clams that later developed BRD. In conclusion, the two SSP-PCR primers were useful for direct and fast identification of V tapetis strains isolated in clams, and are well suited for the screening of individual R. philippilnarum broodstock clams and larvae from the hatchery. (C) 2005 Elsevier B.V. All rights reserved.
Aquaculture (0044-8486) (Elsevier), 2006-03 , Vol. 253 , N. 1-4 , P. 25-38

Droits : 2005 Elsevier B.V. All rights reserved
http://archimer.ifremer.fr/doc/2006/publication-1692.pdf
DOI:10.1016/j.aquaculture.2005.03.047
http://archimer.ifremer.fr/doc/00000/1692/

Éditeur(s) : Academic Press Ltd- Elsevier Science Ltd
Résumé : Extracellular products (ECPs) of the pathogenic Vibrio aestuarianus 01/32 were previously reported to display lethality in Crassostrea gigas oysters and to cause morphological changes and immunosuppression in oyster hemocytes. To identify the source of this toxicity, biochemical and genetic approaches were developed. ECP protease activity and lethality were shown to be significantly reduced following incubation with metal chelators, suggesting the involvement of a zinc metalloprotease. An open reading frame of 1836 bp encoding a 611-aa metalloprotease (designated yam) was identified. The deduced protein sequence showed high homology to other Vibrio metalloproteases reported to be involved in pathogenicity. To further confirm the role of this enzyme in ECP toxicity, a plasmid carrying the yarn gene under the control of an araC-P-BAD expression cassette was transferred to a Vibrio splendidus related strain, LMC20012(T), previously characterized as non-pathogenic to oysters. Expression of Vam conferred a toxic phenotype to LMG20012(T) ECPs in vivo and cytotoxicity to oyster hemocytes in vitro. Collectively, these data suggest that the Vam metalloprotease is a major contributor to the toxicity induced by V aestuarianus ECPs and is involved in the impairment of oyster hemocyte functions. (C) 2010 Elsevier Ltd. All rights reserved.
Fish & Shellfish Immunology (1050-4648) (Academic Press Ltd- Elsevier Science Ltd), 2010-11 , Vol. 29 , N. 5 , P. 753-758

Droits : 2010 Elsevier Ltd All rights reserved.
http://archimer.ifremer.fr/doc/00015/12649/9588.pdf
DOI:10.1016/j.fsi.2010.07.007
http://archimer.ifremer.fr/doc/00015/12649/

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
Field evidence for syn-deformation migmatization and crystallization along the Karakorum fault contradicts the study of Wang et al. (2012). The ages of such magmatic rocks provide minimum ages for the onset of deformation at similar to 23 Ma in North Ayilari and similar to 19 Ma in Tangtse. The onset of deformation at 12 Ma in the Ayilari range inferred by Wang et al. (2012) from a muscovite Ar/Ar age is a cooling age, thus only a minimum age. The similar to 60 Ma granodiorite bodies, the ophiolitic rocks and the south Kailash thrust that are correlated across the fault to provide a 52 +/- 2 km finite offset do not define reliable piercing points. Such observations as well as our previous work concur to show that the Karakorum fault initiated in the Oligo-Miocene, and has a long-term dextral slip-rate between 7.5 and 13 mm/yr, approximately twice that proposed by Wang et al. (2012).
ISSN: 0012-821X

hal-00829469
https://hal.archives-ouvertes.fr/hal-00829469
DOI : 10.1016/j.epsl.2012.12.012

Éditeur(s) : HAL CCSD
Résumé : International audience
Astrocytes send out long processes that are terminated by endfeet at the vascular surface and regulate vascular functions as well as homeostasis at the vascular interface. To date, the astroglial mechanisms underlying these functions have been poorly addressed. Here we demonstrate that a subset of messenger RNAs is distributed in astrocyte endfeet. We identified, among this transcriptome, a pool of messenger RNAs bound to ribosomes, the endfeetome, that primarily encodes for secreted and membrane proteins. We detected nascent protein synthesis in astrocyte endfeet. Finally, we determined the presence of smooth and rough endoplasmic reticulum and the Golgi apparatus in astrocyte perivascular processes and endfeet, suggesting for local maturation of membrane and secreted proteins. These results demonstrate for the first time that protein synthesis occurs in astrocyte perivascular distal processes that may sustain their structural and functional polarization at the vascular interface.
Cell Discovery

hal-01545319
https://hal.archives-ouvertes.fr/hal-01545319
DOI : 10.1038/celldisc.2017.5

Éditeur(s) : HAL CCSD American Geophysical Union (AGU)
Résumé : International audience
New structural observations coupled with 15 U/Pb and 24 Ar/Ar new ages from the Karakorum shear zone (KSZ) constrain the timing and slip rate of the right-lateral Karakorum fault zone (KFZ), one of the great continental Asian strike-slip faults. In the Tangtse-Darbuk area, the Tangtse (SW) and Muglib (NE) mylonitic strands of the KSZ frame the less deformed Pangong Range. Inherited U/Pb ages show that granitic protoliths are mostly from the Karakorum and Ladakh batoliths, with a major Miocene melting event lasting from ≥21.5 to 13.5 Ma. Some of the Miocene granitic bodies show structural evidence for intrusion synkinematic to the KSZ. The oldest of these granitoids is 18.8 ± 0.4 Ma old, implying that deformation started prior to ∼19 Ma. Microstructural data show that right-lateral deformation pursued during cooling. Ar/Ar data show that ductile deformation stopped earlier in the Tangtse (∼11 Ma) than in the Muglib strand (∼7 Ma). Deformation ended at ∼11 Ma in the Tangtse strand while it is still active in the Muglib strand, suggesting a progressive localization of deformation. When merged with published observations along the KFZ, these data suggest that the KFZ nucleated in the North Ayilari range at least ∼22 Ma ago. The long-term fault rate is 0.84 to 1.3 cm/yr, considering a total offset of 200 to 240 km. The KSZ collected magma produced within the shear zone and/or deeper in crust for which the producing mechanism stays unclear but was not the lower crustal channel flow.
ISSN: 0278-7407

hal-00745066
https://hal.archives-ouvertes.fr/hal-00745066
DOI : 10.1029/2011TC003049

Éditeur(s) : INRA
INRA Productions animales (0990-0632) (INRA), 2007 , Vol. 20 , N. 3 , P. 253-258

Droits : info:eu-repo/semantics/openAccess
http://archimer.ifremer.fr/doc/00066/17704/15222.pdf
http://archimer.ifremer.fr/doc/00066/17704/

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 BioMed Central
Résumé : International audience
An important objective on diagnosis of patients with Langerhans cell histiocytosis (LCH) is to determine the extent of disease. However, whether systematic extrathoracic investigation is needed in adult patients with clinically isolated pulmonary LCH (PLCH) has not been evaluated
ISSN: 1750-1172

hal-01269910
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01269910
DOI : 10.1186/s13023-016-0387-1
PUBMED : 26833097

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
We investigate the contribution of atmospheric and its induced non-tidal oceanic loading effects on surface time-varying gravity and tilt measurements for several stations in Western Europe. The ocean response to pressure forcing can be modelled accordingly to the inverted barometer, i.e. assuming that air pressure variations are fully compensated by static sea height changes, or using ocean general circulation models.Wevalidate two runs of theHUGO-mbarotropic ocean model by comparing predicted sea surface height variations with hundred tide-gauge measurements along the European coasts. We then show that global surface pressure field, as well as a barotropic high-resolution ocean model forced by air pressure and winds allow in most cases a significant reduction of the variance of gravity residuals and, to a smaller extends tilt residuals. Wefinally show that precise gravity measurements with superconducting gravimeters allow the observation of large storm surges, occurring in the North Sea, even for inland stations. However, we also confirm that the continental hydrology contribution cannot be neglected. Thanks to their specific sensitivity feature, only tiltmeters closest to the coast can clearly detect the loading due to these storm surges.
ISSN: 0264-3707

hal-00708046
https://hal.archives-ouvertes.fr/hal-00708046
https://hal.archives-ouvertes.fr/hal-00708046/document
https://hal.archives-ouvertes.fr/hal-00708046/file/ETS2008_BOY.pdf
BIBCODE : 2009JGeo...48..182B

Éditeur(s) : HAL CCSD Elsevier
Résumé : TAG LITHO
In this study we attempt to understand the water storage variations in a karst aquifer on the Larzac Plateau (South of France) using absolute gravimetry. On this karst system, water input is exclusively rainfall and draining occurs at the Durzon perennial spring in a karstic valley. Our basis assumption is that water storage in the vadose zone (epikarst and infiltration zone) has a significant effect on surface gravity through Newtonian attraction. The karst aquifer is hence being monitored since January 2006 with monthly absolute gravity measurements at three sites. The gravity measurements are corrected for regional scale gravity using water storage models in order to obtain gravity variations related exclusively to the local water storage variations. The gravity variations exhibit an important seasonal component (10-15 mu gal corresponding to a variation of equivalent water stab thickness of similar to 24-36 cm). Water storage variation seen by gravimetry is not spatially uniform on the studied karst system, corroborating current geomorphologic observations and interpretations. Finally, we use a global mass balance consideration linking rainfall, evapotranspiration and spring discharge to provide a conceptual framework for the understanding of observed gravity variations.
ISSN: 0022-1694

hal-00411884
https://hal.archives-ouvertes.fr/hal-00411884
DOI : 10.1016/j.jhydrol.2008.06.020