Genetic counselling and testing in pulmonary arterial hypertension:a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein receptor 2), several genes, some belonging to distinct functional classes, are also now known to predispose to the development of PAH. As a consequence, specialist and non-specialist clinicians and healthcare professionals are increasingly faced with a range of questions regarding the need for, approaches to and benefits/risks of genetic testing for PAH patients and/or related family members. We provide a consensus-based approach to recommendations for genetic counselling and assessment of current best practice for disease gene testing. We provide a framework and the type of information to be provided to patients and relatives through the process of genetic counselling, and describe the presently known disease causal genes to be analysed. Benefits of including molecular genetic testing within the management protocol of patients with PAH include the identification of individuals misclassified by other diagnostic approaches, the optimisation of phenotypic characterisation for aggregation of outcome data, including in clinical trials, and importantly through cascade screening, the detection of healthy causal variant carriers, to whom regular assessment should be offered.</p

Stimulation vestibulaire galvanique : une nouvelle approche pour la resynchronisation du rythme veille-sommeil

International audienc

Impact of galvanic vestibular stimulation on mood

International audienc

Impact of galvanic vestibular stimulation on mood

International audienc

Is there a circadian rhythm of postural control and perception of the vertical?

International audienceDaytime activity is largely regulated by the day/night pattern. Various physiological and cognitive functions display a variation during the diurnal period, where individuals manage their balance, spatial orientation and consequently their perception of the vertical. However, findings concerning daytime changes of postural control quality remain contradictory, mainly due to methodogical considerations. The aim of our study is to evaluate the effect of time of day on postural control and perception of the vertical. Fifteen male subjects underwent six test sessions over a 24-hour period. Each session involved a postural balance test (static/dynamic; eyes open/closed) and a subjective evaluation of sleepiness, fatigue and subjective visual vertical (SVV) (light stick tilted from 10 to 40°; eight trials). No time-of-day effect was observed on postural balance. However, perception of the vertical fluctuates during the day and is better at 10 a.m. than at 10 p.m. Despite the gradual perception of the vertical deterioration over the day, postural balance does not show any fluctuation. This postural balance consistency throughout the day may be the result of compensation mechanisms

Motion sickness susceptibility in healthy subjects and vestibular patients: effects of gender, age and trait-anxiety

Several studies have suggested that anxiety may play a role in motion sickness susceptibility (MSS) variability. This study aimed to assess motion sickness susceptibility in healthy subjects and chronic vestibular patients and to investigate its relationship to gender, age and trait-anxiety. Healthy subjects (n=167) and chronic dizzy patients with various vestibulopathies (n=94), aged from 20 to 92 years old, were asked to complete Motion Sickness Susceptibility questionnaire (MSSQ) and trait-anxiety questionnaire (STAI-B). When patients were divided into those who had vestibular loss (n=51) vs. patients without vestibular loss (n=43), the MSSQ scores (mean ± SD) for patients with vestibular loss (18.8 ± 30.9) were lower than healthy subjects (36.4 ± 34.8), who were lower than vestibular patients without vestibular loss (59.0 ± 39.7). These significant differences could not be explained by gender, age, trait-anxiety, or interaction. Women had higher MSS than men, and MSS declined with age for healthy subjects and vestibular patients. The overall relationship between anxiety and MSS scores was weak and only reached significance in healthy subjects. These results support the conclusion that the vestibular system is heavily involved in MSS and that trait-anxiety may play a role in MSS but only in healthy subjects