Aspects législatifs des maladies rares : conseil génétique, éthique, relation praticien-patient

Le développement de la médecine bucco-dentaire prédictive est porteuse de beaucoup d’espoirs mais des dérives sont toujours possibles. Les tests génétiques étant en première ligne de cette médecine prédictive, une législation a été établie encadrant l’activité relative à la génétique à la fois ouverte sur les avancées que peuvent apporter ces tests génétiques et, en même temps, respectueuse des droits fondamentaux des patients et plus particulièrement des mineurs

Legislation pertaining to rare diseases: genetic counseling, ethics, practitioner-patient relationship

The development of predictive medicine for dentistry is very promising but there are potential abuses as well. Given that genetic testing is at the forefront of predictive medicine, legislation has been established governing activity related to genetics that is both open to the advances that genetic testing can provide and, at the same time, respectful of the fundamental rights of patients and in particular of the rights of minors

Clinical and Radiological Results of Hemiarthroplasty and Total Shoulder Arthroplasty for Primary Avascular Necrosis of the Humeral Head in Patients Less Than 60 Years Old

Background: Total shoulder arthroplasty (TSA) and hemiarthroplasty (HA) have shown good clinical outcomes in primary avascular necrosis of the humeral head (PANHH) both in short and long terms. The purpose of this study was to assess the complications, the clinical and radiological outcomes of shoulder arthroplasty in young patients with PANHH. Methods: One hundred and twenty-seven patients aged under 60 years old and suffering from PANHH were operated with arthroplasty. Patients were assessed clinically and radiographically before surgery with a minimum of 2 years of follow up (FU). Results: HA was performed on 108 patients (85%). Two patients were revised for painful glenoid wear after 2 and 4 years. TSA was performed on 19 patients (15%). Five TSA had to be revised for glenoid loosening (n = 4) or instability (n = 1). Revision rate was 26% with TSA and 2% with HA. There were no significant differences between HA and TSA in terms of clinical outcomes. Conclusions: With a mean FU of 8 years, HA and TSA improved clinical outcomes of patients with PANHH. HA revisions for painful glenoid wear were rare (2%). The revision rate was excessively high with TSA (26%)