0000000000759225
AUTHOR
L. Joly
Faut-il réaliser un « Mini-Mental State Examination » chez tout sujet âgé hypertendu ?
Hypertension constitutes a recognized risk factor of vascular dementia but also of Alzheimer-type dementia. Various longitudinal studies showed that midlife blood pressure level is one of the factors conditioning the onset of dementia syndrome in late life. The high risk of dementia is linked to leukoaraiosis, vascular rigidity, microcirculation disorders, oxidative stress, blood pressure fluctuations including orthostatic hypotension and strokes, all of those being associated with hypertension. Numerous clinical trials showed the positive effect of effective treatment of hypertension on the prevention of cognitive disorders and dementias. Thus, screening and early management of dementia an…
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
IF 2.004 (2017); International audience; With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate. A review of the literature was performed, focusing on all PubMed articles repo…
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
Objectives Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult. Prenatal diagnosis (PND) and preimplantation genetic diagnosis are technically feasible when a causal mutation is identified, but both raise many ethical questions in this condition. Little is known about opinions and practices in such reproductive issues in MFS. The goal of this study was to report on patients' points of view and geneticists' standard practices. Methods Two different questionnaires were produced. Results Fifty geneticists fil…