General practitioners and doping in sport : attitudes and experience

Enquête auprès de 402 médecins généralistes français pour examiner leurs attitudes et connaissances sur le sujet du dopage ainsi que leur contact avec le dopage dans leur travail quotidien

General practitioners and doping in sport: attitudes and experience

Objectives: To examine the attitudes to, and knowledge of, doping in sport of French general practitioners (GPs), and their contact with drug taking athletes on an everyday basis. Methods: A total of 402 GPs were randomly selected from all over France and interviewed by telephone, using a prepared script. Results: The response rate was 50.5% (153 men and 49 women; mean (SD) age 45.6 (5.6) years). Of the respondents, 73% confirmed that they had the list of banned products, and only 34.5% stated that they were aware of the latest French law, brought into effect in March 1999, concerning the fight against doping. Some 11% had directly encountered a request for prescription of doping agents over the preceding 12 months (the requested substances were mainly anabolic steroids, stimulants, and corticosteroids), and 10% had been consulted by an athlete who was using doping drugs and was frightened of the health risks (the substances used were mainly anabolic steroids). Over half (52%) of the GPs favoured the prescription of drug substitutions to athletes who used doping agents. According to 87.5% of respondents, doping is a public health problem, and 80% stated that doping is a form of drug addiction. Most (89%) said that a GP has a role to play in doping prevention, but 77% considered themselves poorly prepared to participate in its prevention. Conclusion: The results suggest that (a) GPs have limited knowledge of doping and (b) are confronted with doping in their daily practice, at least occasionally

DNA immobilisation procedures for surface plasmon resonance imaging (SPRI) based micro-array systems

International audienc

Self-calibration procedure for temperature stabilized dynamical biochips - example of accurate genetic diagnosis

International audienc

Self-calibrated dynamical optical biochip system using surface plasmon resonance imaging: application to genotyping

International audienc

Label-free self-calibrated DNA biochips - application to accurate genetic diagnosis

WorkshopInternational audienc

Optical Biochip System using Surface Plasmon Resonance Imaging (SPRI) - Application to Genotyping and influence of Temperature

International audienc

Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions.: Multiple sSMC associated with recurrent abortions

International audienceIn this report, we describe a case of multiple small supernumerary marker chromosomes (sSMC) presenting with recurrent abortions. Peripheral blood lymphocytes of a young, healthy and non-consanguineous couple who asked for genetic evaluation after two spontaneous miscarriages were obtained for karyotypes. Lymphocytes of the woman were analyzed by FISH techniques and DNA was extracted and used for array CGH investigation. Karyotyping revealed 48,XX,+2mar[24]/47,XX,+mar[5]/46,XX[3] for the woman and 46,XY for her husband. FISH analysis showed that the two sSMC consisted of chromosomes 6 and 20. Array CGH analysis showed gains of the 6p11.2q12 (9 Mb) and 20 p11.21 (3.3 Mb) chromosomal regions with a total of 42 genes present on both sSMC. Our findings support also the hypothesis that the modification of the expression of some genes involved in embryo implantation, like THBD gene, could be responsible in the recurrent abortions. This report underpins the necessity of array CGH for characterizing precisely sSMC and helping in genotype-phenotype correlations. Furthermore, a literature review on sSMC is included

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

International audienceWaardenburg syndrome type 4 (WS4) is a rare neural crest disorder defined by the combination of Waardenburg syndrome (sensorineural hearing loss and pigmentation defects) and Hirschsprung disease (intestinal aganglionosis). Three genes are known to be involved in this syndrome, that is, EDN3 (endothelin-3), EDNRB (endothelin receptor type B), and SOX10. However, 15-35% of WS4 remains unexplained at the molecular level, suggesting that other genes could be involved and/or that mutations within known genes may have escaped previous screenings. Here, we searched for deletions within recently identified SOX10 regulatory sequences and describe the first characterization of a WS4 patient presenting with a large deletion encompassing three of these enhancers. Analysis of the breakpoint region suggests a complex rearrangement involving three Alu sequences that could be mediated by a FosTes/MMBIR replication mechanism. Taken together with recent reports, our results demonstrate that the disruption of highly conserved non-coding elements located within or at a long distance from the coding sequences of key genes can result in several neurocristopathies. This opens up new routes to the molecular dissection of neural crest disorders