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Search Results: 1 - 4 of 4 matches for " Frenay "
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Dropout of adult learners returning to university: interactions of motivational and environmental factors
Jacot, A.,Frenay, M.,Cazan, A.-M.
Bulletin of the Transilvania University of Bra?ov. Series VII : Social Sciences and Law , 2010,
Abstract: The purpose of this paper is to highlight how motivational and contextual factors interact together to explain the dropout process of adult learners returning to university. From seventeen semi-structured interviews, four main interactions have been identified between entry motives, dimensions of perceived value and expectancy, life and learning contexts. The findings from this study indicated that studying dropout of adult learners with motivational factors enables a deeper understanding taking into account the different commitments of this population and the motivational dynamic.
Indigenous Infection with Francisella tularensis holarctica in The Netherlands
Boulos Maraha,Gerhard Hajer,Andreas Sj?din,Mats Forsman,Armand Paauw,Guus Roeselers,Ellen Verspui,Ine Frenay,Daan Notermans,Maaike de Vries,Frans Reubsaet
Case Reports in Infectious Diseases , 2013, DOI: 10.1155/2013/916985
Abstract: We report here the first case of indigenous tularemia detected in The Netherlands, a nonendemic country, since 1953. Whole genome DNA sequence analysis assigned the isolate BD11-00177 to the genomic group B.FTNF002-00, which previously has been exclusively reported from Spain, France, Italy, Switzerland, and Germany. The patient had not been abroad for years, which implies that this is an indigenous infection. The current case might predict an upcoming distribution of Francisella tularensis holarctica genomic group B.FTNF002-00 in Europe. 1. Introduction Tularemia is a zoonotic infection caused by Francisella tularensis, a small Gram-negative coccobacillus. Transmission to humans has been reported by direct contact with infected animals, arthropod bite, inhalation of contaminated dust, and ingestion of contaminated food or water. The clinical presentation depends on the mode of transmission and the strain involved. In Europe and Asia, only F. tularensis subspecies holarctica (type B) is present, whereas in North America, also the more virulent F. tularensis subspecies tularensis (type A) is found. F. tularensis subspecies mediasiatica is restricted to central Asia. Human infections with F. novicida, F. hispaniensis and F. philomiragia are exceedingly rare [1–4]. In addition to the clinically relevant species, the Francisella genus also contains several other species not infecting humans [5, 6]. F. tularensis is a reemerging pathogen, and there have been recently increasingly reports on tularemia in Europe [7]. We report here the first case of indigenous tularemia detected in The Netherlands, a non-endemic country, since 1953. 2. Case Presentation A previously healthy 72-year-old Dutch male presented in October 2011 with fever (39.3°C), a vesicular lesion on the forehead, and periauricular lymphadenopathy on the right side. A common bacterial skin infection was suspected, and amoxicillin-clavulanic acid was administrated. However, a week later, the patient developed a preauricular swelling of 5 by 2.5?cm. An ultrasound of the swelling showed an inhomogeneous preauricular swelling, originating from the parotid gland. Pus was collected from the swelling for culture. In the Gram stain, no microorganisms were seen. Auramine staining and PCR for mycobacteria were negative. Culture yielded growth of thin Gram-negative rods. The identification of the isolate with the routine tests was inconclusive. Subsequently, the National Institute of Public Health and the Environment (RIVM) identified the isolate as F. tularensis subspecies holarctica using an in-house PCR
Molecular study of the perforin gene in familial hematological malignancies
Rim El Abed, Violaine Bourdon, Ilia Voskoboinik, Halima Omri, Yosra Youssef, Mohamed Laatiri, Laetitia Huiart, Fran?ois Eisinger, Laetitia Rabayrol, Marc Frenay, Paul Gesta, Liliane Demange, Hélène Dreyfus, Valérie Bonadona, Catherine Dugast, Hélène Zattara, Laurence Faivre, Monia Zaier, Saloua Jemni, Testsuro Noguchi, Hagay Sobol, Zohra Soua
Hereditary Cancer in Clinical Practice , 2011, DOI: 10.1186/1897-4287-9-9
Abstract: Perforin is a Ca2+ dependent pore forming protein stored as an active protein in specialized secretory lysosomes (known as lytic granules) of Cytotoxic T lymphocyte (CTL) and Natural Killer cells (NK). Upon recognition of the target cells, lytic granules polarize and release their contents at the immunologic synapse, which triggers apoptosis [1,2]. Cytotoxic granules also contain a group of serine proteases called granzymes in a proteoglycan matrix [3,4]. Perforin is the only molecule that is able to deliver granzymes into the target cell.Perforin is encoded by PRF1, a highly conserved gene, which is crucial to the function of the granzymes involved in triggering caspase dependent and caspase independent target cell death after the formation of an immunological synapse [5]. Perforin-mediated cellular cytotoxicity is a highly preserved mechanism responsible for killing virus-infected and neoplastic cells.PRF1 mutations were first described in familial hemophagocytic lymphohistiocytosis (FHL) [6,7]. These mutations include nonsense, frameshift and missense mutations disrupting perforin activity [8-15]. FHL is a life threatening disease usually occurring in childhood, which is associated with profound immune derangement and characterized by impaired T-cell and NK cell granule-mediated cytotoxic activity. The fact that these mutations were described in homozygous and compound heterozygous states suggests that autosomal recessive transmission processes are involved. Patients with FHL caused by biallelic perforin mutations are severely immunocompromised [7,16].Inherited PRF1 mutations were subsequently described in various types of lymphomas [17-19], which suggests that PRF1 protein is involved in the immune surveillance mechanisms preventing tumor growth and/or development.Escape from immune surveillance is thought to be the main mechanism possibly explaining the role of some predisposing genetic mutations in the development of leukemia and lymphoma[20-23].The key role o
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
Mia M. Gaudet equal contributor,Tomas Kirchhoff equal contributor,Todd Green equal contributor,Joseph Vijai equal contributor,Joshua M. Korn equal contributor,Candace Guiducci,Ayellet V. Segrè,Kate McGee,Lesley McGuffog,Christiana Kartsonaki,Jonathan Morrison,Sue Healey,Olga M. Sinilnikova,Dominique Stoppa-Lyonnet,Sylvie Mazoyer,Marion Gauthier-Villars,Hagay Sobol,Michel Longy,Marc Frenay,GEMO Study Collaborators ?,Frans B. L. Hogervorst,Matti A. Rookus,J. Margriet Collée,Nicoline Hoogerbrugge,Kees E. P. van Roozendaal,HEBON Study Collaborators ?,Marion Piedmonte,Wendy Rubinstein,Stacy Nerenstone,Linda Van Le,Stephanie V. Blank,Trinidad Caldés,Miguel de la Hoya,Heli Nevanlinna,Kristiina Aittom?ki,Conxi Lazaro,Ignacio Blanco,Adalgeir Arason,Oskar T. Johannsson,Rosa B. Barkardottir,Peter Devilee,Olofunmilayo I. Olopade,Susan L. Neuhausen,Xianshu Wang,Zachary S. Fredericksen,Paolo Peterlongo,Siranoush Manoukian,Monica Barile,Alessandra Viel,Paolo Radice,Catherine M. Phelan,Steven Narod,Gad Rennert,Flavio Lejbkowicz,Anath Flugelman,Irene L. Andrulis,Gord Glendon,Hilmi Ozcelik,OCGN ?,Amanda E. Toland,Marco Montagna,Emma D'Andrea,Eitan Friedman,Yael Laitman,Ake Borg,Mary Beattie,Susan J. Ramus,Susan M. Domchek,Katherine L. Nathanson,Tim Rebbeck,Amanda B. Spurdle,Xiaoqing Chen,Helene Holland,kConFab,Esther M. John,John L. Hopper,Saundra S. Buys,Mary B. Daly,Melissa C. Southey,Mary Beth Terry,Nadine Tung,Thomas V. Overeem Hansen,Finn C. Nielsen,Mark I. Greene,Phuong L. Mai
PLOS Genetics , 2010, DOI: 10.1371/journal.pgen.1001183
Abstract: The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (<40 years) affected and 804 unaffected carriers of European ancestry. Associations were evaluated using a survival-based score test adjusted for familial correlations and stratified by country of the study and BRCA2*6174delT mutation status. The genomic inflation factor (λ) was 1.011. The stage 1 association analysis revealed multiple variants associated with breast cancer risk: 3 SNPs had p-values<10?5 and 39 SNPs had p-values<10?4. These variants included several previously associated with sporadic breast cancer risk and two novel loci on chromosome 20 (rs311499) and chromosome 10 (rs16917302). The chromosome 10 locus was in ZNF365, which contains another variant that has recently been associated with breast cancer in an independent study of unselected cases. In stage 2, the top 85 loci from stage 1 were genotyped in 1,264 cases and 1,222 controls. Hazard ratios (HR) and 95% confidence intervals (CI) for stage 1 and 2 were combined and estimated using a retrospective likelihood approach, stratified by country of residence and the most common mutation, BRCA2*6174delT. The combined per allele HR of the minor allele for the novel loci rs16917302 was 0.75 (95% CI 0.66–0.86, ) and for rs311499 was 0.72 (95% CI 0.61–0.85, ). FGFR2 rs2981575 had the strongest association with breast cancer risk (per allele HR = 1.28, 95% CI 1.18–1.39, ). These results indicate that SNPs that modify BRCA2 penetrance identified by an agnostic approach thus far are limited to variants that also modify risk of sporadic BRCA2 wild-type breast cancer.
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