20 research outputs found

    Compte rendu : Conférence d’Éliane Viennot à la BNF

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    BRCA1 and BRCA2 mutations in a population-based study of male breast cancer

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    Background: The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of female breast cancer associated with a family history of breast cancer in a male first-degree relative is unclear. Methods: We have carried out a population-based study of 94 MBC cases collected in the UK. We screened genomic DNA for mutations in BRCA1 and BRCA2 and used family history data from these cases to calculate the risk of breast cancer to female relatives of MBC cases. We also estimated the contribution of BRCA1 and BRCA2 to this risk. Results: Nineteen cases (20%) reported a first-degree relative with breast cancer, of whom seven also had an affected second-degree relative. The breast cancer risk in female first-degree relatives was 2.4 times (95% confidence interval [CI] = 1.4–4.0) the risk in the general population. No BRCA1 mutation carriers were identified and five cases were found to carry a mutation in BRCA2. Allowing for a mutation detection sensitivity frequency of 70%, the carrier frequency for BRCA2 mutations was 8% (95% CI = 3–19). All the mutation carriers had a family history of breast, ovarian, prostate or pancreatic cancer. However, BRCA2 accounted for only 15% of the excess familial risk of breast cancer in female first-degree relatives. Conclusion: These data suggest that other genes that confer an increased risk for both female and male breast cancer have yet to be found

    Characterization of encapsulation materials for implantable DBS device/Sapiens Steering Brain Stimulation

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    This report presents the results of the work of one year in Sapiens Steering Brain Stimulation. A general description of the company objective is given and later the project is defined. The project has two main sub-projects: the characterization of the materials to be used as encapsulation for electronics and the mechanical testing of the isolative layers of the thin film, as an essential part of the implantable part of the device. For the first sub-project, the coating parameters are investigated through time experiments of samples exposed in saline. For the second part, samples are put under bending stress and mechanical tolerance is tested. Any mechanical failure or defective coating will have as a consequence an amount of current to leak out of the insulation layers. Both characterization and film testing are realized through leakage current measurements after applying a specific value of voltage. The setup is also validated. For the encapsulation materials, a well-defined process flow is suggested for sample preparation and coating in the clean room, pointing out the significance of cleaning the samples in the efficiency of the coating. Combinations of materials such as parylene and silicone or parylene and PU are tested and evaluated. For the thin film testing, bending test results are compared with theoretical strain calculations and safety specifications. The results of both the sub-projects indicate that leakage current measurement is a reliable method for evaluating the performance of both encapsulation materials and thin film

    Liver lobe torsion in a cat with diaphragmatic hernia

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    A 10-year-old neutered male domestic shorthair cat was referred with a 2-week history of dyspnoea and anorexia following injury in a car accident. Thoracic radiography and ultrasonography revealed a diaphragmatic hernia. A midline coeliotomy revealed a centrally located hernia ventral to the caudal vena cava. Hernia reduction required incision of the hernia ring. Displaced organs included the duodenum; jejunum; ascending and transverse colon; and right, caudate and quadrate liver lobes. After reduction of the abdominal organs, a torsion of the right medial and quadrate liver lobes was identified. Lobectomy was performed followed by herniorrhaphy. The cat had an uneventful recovery and was clinically normal on re-examination 1, 6, 12 and 24 months following the surgery. © 2020 BMJ Publishing Group. All rights reserved
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