Éditeur(s) : CEREAP : Centre d'Etudes et de Recherches en Esthétique et Arts Plastiques IUFM : Institut Universitaire de Formation des Maîtres de Martinique CRILLASH : Centre de Recherches Interdisciplinaires en Lettres, Langues, Arts et Sciences Humaines Université des Antilles et de la Guyane
Extrait de : "Le Trouble" : colloque, les 3 et 4 décembre 2011. IUFM
Description : Ouverture du 16ème colloque du CEREAP (Centre d'Études et de Recherches en Esthétique et Arts Plastiques) sur le thème du "Trouble".
Siècle(s) traité(s) : 21
Droits : CC-BY-NC-ND - Attribution - Pas d'utilisation commerciale - Pas de modification
Permalien : http://www.manioc.org/fichiers/V12136
V12136

Éditeur(s) : CRILLASH : Centre de Recherches Interdisciplinaires en Lettres, Langues, Arts et Sciences Humaines
Extrait de : "La prégnance du lieu dans la Caraïbe" : colloque, les 14 et 15 avril 2016. Université des Antilles
Description : Anne-Catherine Berry (doctorante, CRILLASH, Université des Antilles) ouvre la réflexion sur la contextualisation de l'oeuvre d'art, entre esthétique de déterritorialisation et territoire incarné. Elle s'intéresse aux démarches d'artistes engagés, en lien d'une identité antillaise, une culture plurielle née de rencontres croisées, imprégné de métissages, un esprit des îles. L'oeuvre d'art exprime ce rapport au lieu, où les signes font sens. La réflexion proposée, construite à partir des travaux de deux artistes martiniquais, Christian Bertin et Serge Helenon, vise à questionner le rapport des oeuvres d'art contemporaines à la culture dans les Antilles.

Droits : CC-BY-NC-ND - Attribution - Pas d'utilisation commerciale - Pas de modification
Permalien : http://www.manioc.org/fichiers/V16060
V16060

Éditeur(s) : CEREAP
Description : Lise Brossard, historienne de l'art, Anne Catherine Berry, doctorante en art et Christelle Lozere, maître de conférences en Histoire de l'Art et Patrimoine, présentent Paul Gauguin en mettant l'accent sur son périple artistique en Martinique. Elles expliquent que l'expérience martiniquaise de Gauguin a permuté et influencé sa peinture et son style. Les oeuvres qui en découlent démontrent le patrimoine de la société martiniquaise de la fin du XIXe siècle.
Siècle(s) traité(s) : 19
Droits : CC-BY-NC-ND - Attribution - Pas d'utilisation commerciale - Pas de modification
Permalien : http://www.manioc.org/fichiers/V17050
V17050

Éditeur(s) : AFEC : Association Française d'Education Comparée AFEC : Association Française d'Education Comparée AFEC : Association Française d'Education Comparée
Extrait de : "Inégalités entres sexes dans la famille, à l'école et au travail : approches comparées" : 12e colloque international, le 28 octobre 2014. Université des Antilles et de la Guyane
Description : Allocution d'ouverture et présentation du colloque.
Siècle(s) traité(s) : 21
Droits : CC-BY-NC-ND - Attribution - Pas d'utilisation commerciale - Pas de modification
Permalien : http://www.manioc.org/fichiers/V15057
V15057
V15057
V15057

Éditeur(s) : Université des Antilles et de la Guyane CEREAP : Centre d'Etudes et de Recherches en Esthétique et Arts Plastiques IUFM : Institut Universitaire de Formation des Maîtres de Martinique CRILLASH : Centre de Recherches Interdisciplinaires en Lettres, Langues, Arts et Sciences Humaines
Extrait de : "Regards croisés sur : L'hybridation dans l'Art" : Conférence du CEREAP, le 18 octobre 2011. Institut Universitaire de Formation des Maîtres de Martinique
Résumé : Pour illustrer une nouvelle série sur l'Art et la Culture, le CEREAP propose le thème suivant : « Regards croisés sur l'hybridation dans l'Art ». Qu'est-ce que l'hybridation en Art plastique ? Quelle démarche artistique se cache derrière ce nouveau langage ? Comment l'hybridation s'intègre-t-elle dans la peinture et la photographie ? Et qui sont les artistes qui adoptent ce nouveau modèle d'expression (Jane Alexander, Sigmar Polke, Orlan etc). Cette conférence est suivie par un débat avec les intervenants.
Pour illustrer une nouvelle série sur l'Art et la Culture, le CEREAP propose le thème suivant : « Regards croisés sur l'hybridation dans l'Art ». Qu'est-ce que l'hybridation en Art plastique ? Quelle démarche artistique se cache derrière ce nouveau langage ? Comment l'hybridation s'intègre-t-elle dans la peinture et la photographie ? Et qui sont les artistes qui adoptent ce nouveau modèle d'expression (Jane Alexander, Sigmar Polke, Orlan etc). Cette conférence est suivie par un débat avec les intervenants.
Siècle(s) traité(s) : 20
Droits : CC-BY-NC-ND - Attribution - Pas d'utilisation commerciale - Pas de modification
Permalien : http://www.manioc.org/fichiers/V12118
V12118
V12118
V12118

Éditeur(s) : Université des Antilles et de la Guyane CEREAP : Centre d'Etudes et de Recherches en Esthétique et Arts Plastiques IUFM : Institut Universitaire de Formation des Maîtres de Martinique Université des Antilles et de la Guyane
Extrait de : "La photographie dans les arts plastiques" : Conférence du CEREAP, le 18 octobre 2011. Université des Antilles et de la Guyane
Résumé : "Monsieur Dominique Berthet, nous présente une conférence autour du thème "La photographie dans les arts plastiques" à partir de travaux photographiques liés à une période contemporaine allant de 1960 à nos jours. Comment la photographie intervient-elle dans le champ des artistes ? Trois regards sont proposés à travers les travaux de Gerhard Richter, Cindy Sherman et George Rousse. Un débat clôture cette conférence."
"Monsieur Dominique Berthet, nous présente une conférence autour du thème "La photographie dans les arts plastiques" à partir de travaux photographiques liés à une période contemporaine allant de 1960 à nos jours. Comment la photographie intervient-elle dans le champ des artistes ? Trois regards sont proposés à travers les travaux de Gerhard Richter, Cindy Sherman et George Rousse. Un débat clôture cette conférence."
Siècle(s) traité(s) : 20
Droits : CC-BY-NC-ND - Attribution - Pas d'utilisation commerciale - Pas de modification
Permalien : http://www.manioc.org/fichiers/V12112
V12112
V12112
V12112

Éditeur(s) : CRILLASH : Centre de Recherches Interdisciplinaires en Lettres, Langues, Arts et Sciences Humaines
Extrait de : Conférence doctorale, le 7 avril 2017. Université des Antilles
Description : Anne-Catherine Berry Doctorante, laboratoire CRILLASH. Anne-Catherine Berry présente ses recherches dans le cadre de sa thèse intitulée « Le corps archipélique dans les arts plastiques des Antilles françaises ». Elle traite la notion du fragment qui semble traverser les oeuvres des artistes qu'elle analyse tels qu'Ernest Breleur, François Piquet, Christian Bertin, Michel Rovélas et Christian Bracy.
Siècle(s) traité(s) : 21
Droits : CC-BY-NC-ND - Attribution - Pas d'utilisation commerciale - Pas de modification
Permalien : http://www.manioc.org/fichiers/V17057
V17057

Éditeur(s) : CRILLASH : Centre de Recherches Interdisciplinaires en Lettres, Langues, Arts et Sciences Humaines
Extrait de : Conférence des masters, les 29 et 30 mars 2012. Université des Antilles et de la Guyane
Description : Anne-Catherine Berry nous présente son mémoire de recherche sur "Le fragment dans les pratiques plastiques des Petites Antilles Françaises".
Siècle(s) traité(s) : 21
Droits : CC-BY-NC-ND - Attribution - Pas d'utilisation commerciale - Pas de modification
Permalien : http://www.manioc.org/fichiers/V12243
V12243

Éditeur(s) : CSIA : Comité de soutien aux Indiens des Amériques
Extrait de : Nitassinan, notre terre
Siècle(s) traité(s) : 20
Droits : Ce document est protégé par le droit d'auteur. Il ne peut en aucun cas être utilisé sans l'autorisation de l'auteur et des ayant droits
Permalien : http://www.manioc.org/recherch/T17010
T17010

Éditeur(s) : Université des Antilles
Extrait de : "Les 30 ans d'Erasmus", le 13 octobre 2017. Université des Antilles
Description : Les partenaires et acteurs d'Erasmus présentent ce programme et les avantages proposés par cette forme d'échange.

Droits : CC-BY-NC-ND - Attribution - Pas d'utilisation commerciale - Pas de modification
Permalien : http://www.manioc.org/fichiers/V17255
V17255

Éditeur(s) : Oxford university press
Résumé : There is increasing evidence from previous studies, and from fishers' observations, that coastal dolphins use fishing nets as an easily accessible feeding source, damaging or depredating fish caught in the nets. This study investigates the impact of dolphin depredation on artisanal trammelnets by analysing the catch composition of 614 artisanal fishing operations in the Bonifacio Strait Natural Reserve (France). Common bottlenose dolphins (Tursiops truncatus) attacked, on average, 12.4% of the nets and damaged 8.3% of the catch. However, attacked nets were characterized by statistically significantly higher catch per unit effort than unattacked ones. Catch composition also differed significantly after dolphin attacks; bentho-pelagic fish were more represented and reef-associated fish less represented. Our results suggest that (i) dolphins are attracted by high fish densities in the fishing area and/or nets, and (ii) their attacks induce specific fish-avoidance behaviour, according to the fish position in the water column. Although dolphins depredate a small part of the catch, damage to nets, not yet assessed in this area, could weaken the benefits that reserves can provide to artisanal fisheries.
ICES Journal of Marine Science (1054-3139) (Oxford university press), 2009-05 , Vol. 66 , N. 4 , P. 699-707

Droits : 2009 ICES/CIEM. Oxford Journals
http://archimer.ifremer.fr/doc/2009/publication-6808.pdf
DOI:10.1093/icesjms/fsp036
http://archimer.ifremer.fr/doc/00000/6808/

Éditeur(s) : HAL CCSD International Medical Press
Résumé : International audience
BACKGROUND: Psychiatric disorders are relatively common among HIV-infected patients. However, there are few studies about their potential risk factors. This analysis aimed to measure the incidence of severe psychiatric events (PE) among patients receiving combination antiretroviral therapy (cART) of the French APROCO-COPILOTE (ANRS CO8) cohort, and to identify the medical and socio-behavioural correlates of their first episode of depression, suicide or suicide attempt (D/S/SA). METHODS: APROCO-COPILOTE is a cohort of patients started on a protease inhibitor regimen between 1997 and 1999, with prospective medical standardized records and self-administered questionnaires collecting socio-demographic and socio-behavioural data. This analysis included all 11-year follow-up visits for 1,095 patients having completed baseline self-administered questionnaires. A proportional hazard Cox model was used to identify the correlates of a first D/S/SA event. RESULTS: The overall prevalence of severe PE remained low: 50 patients experienced 67 events (incidence rate [95% CI] =1.04 [0.82, 1.32] per 100 person-years). Depression (n=16), suicides (n=5) and suicide attempts (n=14) were the most frequently diagnosed PE (0.54 [0.39, 0.76] per 100 person-years) among 25 patients. Multivariate results showed that unemployment, unstable housing, detectable viral load and smoking more than 20 cigarettes/day were independently associated with D/S/SA. CONCLUSIONS: Although the incidence of severe PE remained relatively low among the patients of APROCO-COPILOTE cohort, this study's results underline a clinically important problem in HIV-infected patients receiving cART. Furthermore, our findings not only emphasize the importance of comprehensive care, especially for socially vulnerable patients, but may also help future studies designed to assess the effectiveness of interventions in reducing the risk of PE during cART.
ISSN: 1359-6535

hal-00875183
https://hal.archives-ouvertes.fr/hal-00875183
DOI : 10.3851/IMP2102
PUBMED : 22544079

Éditeur(s) : HAL CCSD
Résumé : Background and objectives.[br/] Dairy propionibacteria are isolated from various ecological niches, including soil, grass, silage, rumen, raw milk and dairy plants, showing great adaptability and robustness. Used as ripening starters in Swiss type cheeses, these food grade bacteria are described as nutraceutical producers and they release into the external medium short chain fatty acids (SCFA), folic acid, cobalamin and the bifidogenic 1,4- dihydroxy-2-naphthoic acid (DHNA). These compounds are known to play a pivotal role in the modulation of intestinal physiology through diet. Considering the pro-apoptotic potential of some of these metabolites, we investigated the potential of dairy products fermented by the main species, Propionibacterium freudenreichii, to prevent colon carcinogenesis. Methods.[br/] We developed a new fermented milk. Taking advantage of milk fractions, high and stable populations of P. freudenreichii were obtained in this product. It was tested in vitro on gastric HGT-1 and colic HT-29 cells with respect to the typical hallmarks of apoptosis. In vivo, the fermented milk was evaluated in piglets with respect to general health parameters and in human microbiota-associated rats, treated or not with dimethylhydrazine (DMH), with respect to intestinal proliferation and apoptosis. Results. Fermented milk induced cell death in both gastric and colon cancer cells. Cellular and molecular characterization of cells dying in response to SCFA treatment revealed cell cycle arrest, drop in intracellular ATP, depolarization of mitochondria, translocation of key apoptosis proteins, processing of caspases and fragmentation of the nucleus. Interestingly, the new fermented milk was shown to potentiate the cytotoxic effect of molecules used in cancer chemotherapy. In accordance, it modulated expression of key apoptotic proteins. In vivo, the fermented milk was evaluated in piglets. Daily oral gavage led to high colic P. freudenreichii populations, to modulation of the intestinal microbiota and modulation of intestinal cytokines. Promotion of piglets’ growth also revealed general probiotic effects of fermented milk. Considering that propionibacteria were metabolically active in the intestine, we further investigated their impact on colon carcinogenesis (induced by dimethylhydrazine, DMH) in human microbiota-associated rats. Consumption of selected strains of propionibacteria resulted in enhanced apoptotic depletion of DMH damaged epithelial cells, yet had no effect on neither proliferation nor apoptosis in healthy rats. Conclusions and perspectives.[br/] These results open new perspectives in the field of colon cancer cells prevention and/or treatment. The synergy with pro-apoptotic chemotherapy molecules suggests that such a fermented product may be proposed as a food supplement to enhance the effects of anticancer treatments.
colloque international « Nutrition and Cancer : Hot topics from biology to public health issues »
Paris, France

hal-01190452
https://hal.archives-ouvertes.fr/hal-01190452
PRODINRA : 201853

Éditeur(s) : HAL CCSD WB Saunders
Résumé : International audience
OBJECTIVE: We hypothesized that, in Human Immunodeficiency Virus and Hepatitis C Virus (HIV/HCV) co-infected patients who did not respond to peg-interferon and ribavirin, a maintenance therapy with peg-interferon could induce fibrosis regression. METHODS: This was a randomized study with two parallel groups. HIV/HCV co-infected patients received peg-interferon α-2a at 180 μg/week or remained on observation for 96 weeks. The primary endpoint was the percentage of patients who experienced a decrease of at least one point in their Metavir fibrosis score between initial and final liver biopsies. Secondary endpoints included plasma fibrosis markers at week 96, occurrence of HCV-related complications, and survival. RESULTS: A total of 52 patients were randomized (peg-interferon: 25; control: 27) including 18 with cirrhosis. The median (interquartile range) age was 44 (40-46) years, and 69% were male. A total of 64% had ALT levels >1.5 normal values, and the CD4 cell count was 391 (296-537) cells/mm(3); 67% of patients had HIV RNA <200 copies/mL at entry. The main endpoint was assessed in 41 patients. Response rates were 3/20 (15%) and 4/21 (19%) in the peg-interferon and control groups, respectively (p = 0.99). There was no significant difference between peg-interferon and control groups on plasma fibrosis markers at the final visit. Severe liver-related complications were observed in 2 and 5 patients in peg-interferon and control groups, respectively. Three deaths were observed, all in the control group. CONCLUSIONS: A maintenance therapy with peg-interferon α-2a over 96 weeks in HIV/HCV co-infected patients, who were non-responders to HCV treatment, did not change liver fibrosis. ClinicalTrials.gov Identifier: NCT00122616.
ISSN: 0163-4453

hal-00875067
https://hal.archives-ouvertes.fr/hal-00875067
DOI : 10.1016/j.jinf.2013.05.007
PUBMED : 23800784

Éditeur(s) : HAL CCSD Météo et Climat
Résumé : International audience
D'initiative française, le projet international HyMeX a pour objectif d'améliorer la compréhension du cycle de l'eau en Méditerranée, de sa variabilité, de l'échelle de l'événement météorologique aux échelles saisonnières et interannuelles, et de ses caractéristiques sur une décennie, dans un contexte de changement global. Le projet est motivé par le rôle déterminant des processus de mésoéchelle, couplés entre l'atmosphère, la mer et la terre, sur la variabilité du système climatique et sur le déclenchement d'événements hydrométéorologiques extrêmes (précipitations et inondations, vents forts et convection océanique, canicules et sécheresses). Le projet vise enfin à évaluer les conséquences de ces événements extrêmes sur la vulnérabilité sociale et économique de cette région et sa capacité d'adaptation.
ISSN: 0026-1181

hal-00828758
https://hal.archives-ouvertes.fr/hal-00828758
https://hal.archives-ouvertes.fr/hal-00828758/document
https://hal.archives-ouvertes.fr/hal-00828758/file/meteo_2013_80_23%20%281%29.pdf
DOI : 10.4267/2042/48792

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
OBJECTIVE: The WEGENT trial and other short-term studies suggested that azathioprine or methotrexate could effectively maintain granulomatosis with polyangiitis (GPA) or microscopic polyangiitis (MPA) remission. Whether differences in relapse or adverse event rates would appear after discontinuation of those 2 maintenance regimens and longer follow-up remains unknown. METHODS: Long-term outcomes for the patients enrolled in the WEGENT trial were analyzed according to their randomization group. Parameters at trial entry were evaluated as potential prognostic factors for death, relapse or damage in multivariate models. RESULTS: Data were returned for 88.8% of the 126 original participants. Median [95% confidence interval] followup was 11.9 [11.3-12.5] years. For the azathioprine and methotrexate arms, respectively, the 10-year overall survival rates were 75.1% [64.8-86.9] and 79.9% [70.3-90.8] (P = 0.56), and relapse-free survival rates 26.3% [17.3-40.1] and 33.5% [23.5-47.7] (P = 0.29). No between-arm differences were observed for relapse, adverse events, damage, survival rates without severe side effects and survival rates without relapse and severe side effects. Considering only the 97 GPA patients, no between-arm survival differences were observed. Relapse-free survival was shorter for GPA than MPA patients but the multivariate analysis retained anti-PR3-ANCA-positivity, and not GPA, as being independently associated with relapse. CONCLUSION: This long-term analysis confirms that azathioprine and methotrexate are comparable options for maintaining GPA or MPA remission. Despite good overall survival, relapses, adverse events and damage remain matters of concern and further studies are needed to reduce them.
ISSN: 2326-5205

hal-01217989
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01217989
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01217989/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01217989/file/Long-term%20outcomes%20of%20the%20WEGENT%20trial_accepted.pdf
DOI : 10.1002/art.39450

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
BACKGROUND:In French Guiana, cervical cancer is the second most frequent cancer in females. The objective of the present study was to describe the prevalence of HPV infections in women with normal cervical cytology living in the remote villages of French Guiana.METHODS:Before the study, the study team communicated in the remote villages on the importance of screening. All women from the target population were offered to participate. They signed informed consent during inclusion and then had a concomitant HPV-test and cervical smear. Only women with normal cytology and a good quality smear were analyzed. The detection of HPV-DNA was performed using the GREINER-BIO-ONE kit.RESULTS:Overall, 27.2% of women with normal cervical cytology had a positive HPV-test. There was a U-shaped evolution of prevalence with women over 50 years having the highest HPV prevalence, followed by the 20 to 29 years group. The most prevalent HPV genotypes were HPV 53(3.52%), 68(3.33%), 52(2.59%), 31(2.22%) and 16 (1.85%). The proportion of HPV 16 among HPV-infected women was 6.8%.CONCLUSIONS:HPV prevalence in cytologically normal women was very high. The most prevalent genotypes were very different from what is usually described in the world, and notably in South America.
ISSN: 1471-2458

pasteur-01583545
https://hal-riip.archives-ouvertes.fr/pasteur-01583545
https://hal-riip.archives-ouvertes.fr/pasteur-01583545/document
https://hal-riip.archives-ouvertes.fr/pasteur-01583545/file/2017%20Adenis%20et%20al.BMC%20Public%20Health.pdf
DOI : 10.1056/NEJMoa0808516

Éditeur(s) : HAL CCSD
Résumé : International audience
Treatment failure and symptomatic relapse are major concerns in American tegumentary leishmaniasis (ATL). Such complications are seen frequently in L.guyanensis infections where patients respond variously to first-line anti-leishmanials and are more prone to develop chronic cutaneous leishmaniasis. The factors underlying this pathology, however, are unknown. Recently ,: we reported that a dsRNA virus (LRV1) nested within L.guyanensis parasites is able to exacerbate experimental murine leishmaniasis by inducing a hyper-inflammatory response. This report investigates the prevalence of LRV1 in human L.guyanensis infection and its effect on treatment efficacy as well as its correlation to symptomatic relapses after the first-line treatment. In our cohort of 75 patients diagnosed with primary-localised ATL, the prevalence of LRV1+ infection was elevated to 58%. All patients infected with LRV1-negative L.guyanensis were cured after one (22/31 i.e.71%) or two (31/31 i.e.100%) doses of pentamidine. Oppositely, 12 out of the 44 LRV1-positive patients presented with persistent infection and symptomatic relapse required extended therapy and the use of second-line drugs. Finally, LRV1 presence was associated with a significant increase in intra-lesional inflammatory markers. In conclusion, LRV1 status in L.guyanensis infection is significantly predictive (p=0.0009) of first-line treatment failure and symptomatic relapse, and could stand to guide therapeutic choices in ATL
Journal of Infectious Diseases

hal-01175528
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01175528
DOI : 10.1093/infdis/jiv355
PUBMED : 26123564

Éditeur(s) : HAL CCSD Lippincott, Williams & Wilkins
Résumé : International audience
OBJECTIVE: To evaluate the incidence and determinants of diabetes in a cohort of HIV-infected adults initiated with combination antiretroviral treatment (cART) in 1997-1999 and followed up to 2009. DESIGN: Prospective study of 1046 patients at 47 French clinical sites. METHODS: Potential determinants of diabetes occurrence, defined by confirmed increased glycemia and/or initiation of antidiabetic treatment, were assessed by a proportional hazards model, including time-updated metabolic parameters and ART exposure. RESULTS: Among the cohort, representing 7846 person-years of follow-up (PYFU), 54% received indinavir, 75% stavudine and 52% didanosine. Overall, 111 patients developed diabetes, with an incidence of 14.1/1000 PYFU (14.6 in men, 12.6 in women). Incidence peaked in 1999-2000 (23.2/1000 PYFU) and decreased thereafter. The incidence of diabetes was associated [adjusted hazard ratio (aHR), all P<0.02] with older age (hazard ratio = 2.13 when 40-49 years, hazard ratio = 3.63 when ≥50 years), overweight (hazard ratio = 1.91 for a BMI 25-29 kg/m(2), hazard ratio = 2.85 >30 kg/m(2)), waist-to-hip ratio (hazard ratio = 3.87 for ≥0.97 male/0.92 female), time-updated lipoatrophy (hazard ratio = 2.14) and short-term exposure to indinavir (0-1 year: hazard ratio = 2.53), stavudine (0-1 year: hazard ratio = 2.56, 1-2 years: hazard ratio = 2.65) or didanosine (2-3 years: hazard ratio = 3.16). Occurrence of diabetes was not associated with HIV-related markers, hepatitis C, hypertension or family history of diabetes. Insulin resistance was predictive for incident diabetes. CONCLUSIONS: In this nationwide cohort, followed for 10 years after cART initiation, diabetes incidence peaked in 1990-2000, was markedly higher than that reported for European uninfected or other HIV-infected populations (4-6/1000 PYFU) and linked with age and adiposity. Adiposity and glycemic markers should be monitored in aging HIV-infected patients.
ISSN: 0269-9370

hal-00875222
https://hal.archives-ouvertes.fr/hal-00875222
DOI : 10.1097/QAD.0b013e32834e8776
PUBMED : 22089377

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