0000000001246338
AUTHOR
F. Salvi
Lack of association of the -463 G/A myeloperoxidase promoter polymorphism with Behcet's disease in Italian patients.
Objective. To investigate potential associations between the � 463G/A myeloperoxidase (MPO) promoter polymorphism and susceptibility to, and clinical expression of, Behcet's disease (BD). Methods. One hundred and seventy-five Italian patients who satisfied the International Study Group criteria for BD and 235 healthy age- and sex-matched blood donors were genotyped for the �463G/A promoter polymorphism of the MPO gene by molecular methods. The patients were subgrouped according to the presence or absence of clinical manifestations. Results. The distribution of allele and genotype frequencies of the MPO �463A/G polymorphism did not differ significantly between the BD patients and the healthy…
La construction relationnelle et affective des personnes sans domicile fixe : quels attachements ?
Resume Les personnes sans domicile fixe (SDF) restent la plupart du temps figees dans de nombreux a priori. Nous souhaitons par cette etude avoir une approche clinicosociale des phenomenes de marginalisation et de relations aux autres. Les trajectoires de vie des personnes SDF sont toutes differentes et pourtant semblent teintees par de nombreuses ruptures de liens, dans l’instant present mais aussi et surtout dans l’enfance. Nous proposons de mieux cerner la construction de l’attachement chez les SDF a partir d’entretiens d’attachement adulte (AAI) et de cotations du discours par l’Edicode. L’errance sociale et la precarite trouvent-elles leur origine dans les modeles internes operants con…
Clinical manifestations of Behçet's disease in 137 Italian patients: Results of a multicenter study
Objective. To determine the type and frequency of clinical features of Behcets disease in a population of Italian patients. Methods. We retrospectively v studied 137 Italian patients (76 males and 61 females, age at onset 29.6 +/- 12.2 [mean +/-SD] Years) seen consecutively in nine different referral centers. The duration of follow-up (it study entry was 10.9 +/- 8.2 years. Virtually all patients fulfilled the classification criteria developed by the International Study Group for Behcets disease. The clinical manifestations of the patients were recorded by the attending physicians using specifically designed forms. \ Results. The most frequent manifestations at disease onset were oral (78.3…
Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behcet's disease and deep vein thrombosis
OBJECTIVE: To evaluate the frequency and type of vascular lesions and to study the association of factor V gene G1691A (Leiden) and prothrombin gene G20210A polymorphisms with venous thrombosis in Italian patients with Behçet's disease (BD). METHODS: Included were 118 consecutive Italian BD patients followed over a 3-year period (1997-1999) who satisfied the International Study Group criteria for BD. The control group consisted of 132 healthy Italian blood donors. All BD patients and controls were genotyped by polymerase chain reaction and allele-specific restriction enzyme techniques for factor V Leiden and prothrombin gene G20210A polymorphisms. RESULTS: Vascular lesions were observed in …
Assessment of infield spatial variability of available water content on an experimental platform.
National audience; Innovative strategies and genetic engineering solutions are needed in order to manage agroecosystems more efficiently, build improved varieties and reduce inputs. In this context, phenotyping has recently become a bottleneck for the selection of high-achieving stresstolerant genotypes. In France, the Phenome project is responding to these stakes with a network of various high throughput facilities distributed in relevant geographical locations for studies at different scales and conditions. Phenovia is a platform managed by Terres Inovia. It is incorporated into the INRA experimental unit (EU) of Epoisses, located in Bretenière (Côte-d’Or, Bourgogne-Franche- Comté, France…
Vascular endothelial growth factor gene polymorphisms in Behçet's disease
Objective. To evaluate potential associations of vascular endothelial growth factor (VEGF) gene polymorphisms with Behçet's disease (BD) and disease expression. Methods. Case patients were 122 consecutive Italian patients with BD followed at the Rheumatology, Ophthalmology, and Neurology Units in Bologna, Ferrara, Milano, Palermo, Potenza, Prato, Reggio Emilia, and Trento over a 3-year period (1997-99) and who satisfied the International Study Group criteria for BD. Also selected as a control group were 200 healthy age and sex matched blood donors. All patients with BD and controls were genotyped by polymerase chain reaction and allele-specific oligonucleotide techniques for +936 C/T (rs302…
Genetic counselling in ALS: facts, uncertainties and clinical suggestions
The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle genetic counselling and testing both for ALS patients and their relatives. On the basis of existing literature on genetics of ALS and of other late-onset life-threatening disorders, we propose clinical suggestions to enable neurologists to provide optimal clinical and genetic counselling to patients and…
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration. © 2014 Nature America, Inc. All rights reserved.