De novo LMNA mutations cause a new form of congenital muscular dystrophy.

OBJECTIVE: To describe a new entity of congenital muscular dystrophies caused by de novo LMNA mutations. METHODS: Fifteen patients presenting with a myopathy of onset in the first year of life were subjected to neurological and genetic evaluation. Histopathological and immunohistochemical analyses were performed for all patients. RESULTS: The 15 patients presented with muscle weakness in the first year of life, and all had de novo heterozygous LMNA mutations. Three of them had severe early-onset disease, no motor development, and the rest experienced development of a "dropped head" syndrome phenotype. Despite variable severity, there was a consistent clinical pattern. Patients typically presented with selective axial weakness and wasting of the cervicoaxial muscles. Limb involvement was predominantly proximal in upper extremities and distal in lower extremities. Talipes feet and a rigid spine with thoracic lordosis developed early. Proximal contractures appeared later, most often in lower limbs, sparing the elbows. Ten children required ventilatory support, three continuously through tracheotomy. Cardiac arrhythmias were observed in four of the oldest patients but were symptomatic only in one. Creatine kinase levels were mild to moderately increased. Muscle biopsies showed dystrophic changes in nine children and nonspecific myopathic changes in the remaining. Markedly atrophic fibers were common, most often type 1, and a few patients showed positive inflammatory markers. INTERPRETATION: The LMNA mutations identified appear to correlate with a relatively severe phenotype. Our results further broaden the spectrum of laminopathies and define a new disease entity that we suggest is best classified as a congenital muscular dystrophy (LMNA-related congenital muscular dystrophy, or L-CMD).

Lee HWA Chung theorem for presympectic manifolds. Canonical transformations for constrained systems

We generalize the analogous of Lee Hwa Chungs theorem to the case of presymplectic manifolds. As an application, we study the canonical transformations of a canonical system (M, S, O). The role of Dirac brackets as a test of canonicity is clarified.

« Histoyre des quatre filz Amon ».

Commençant par : « Or dit le conte que du temps du roy Alixandre ne fut ouye une hystoire pareille de ceste qui si apres s'ensuit, commeil advint des quatre filz Amon,... » et finissant par : «... vostre grande vaillance, ne vostre grant hardement, ne vostre bonté, car il ne vous eust mye occis... » . Incomplet à la fin.

Assessing the Functionality and Biocompatibility of a Wireless Contact Lens Sensor for 24 hour-intraocular Pressure Monitoring in Volunteers: Preliminary Results

Purpose: In vitro studies in porcine eyes have demonstrated a good correlation between induced intraocular pressure variations and corneal curvature changes, using a contact lens with an embedded microfabricated strain gauge. Continuous 24 hour-intraocular pressure (IOP) monitoring to detect large diurnal fluctuation is currently an unmet clinical need. The aims of this study is to evaluate precision of signal transmission and biocompatibility of 24 hour contact lens sensor wear (SENSIMED Triggerfish®) in humans. Methods: After full eye examination in 10 healthy volunteers, a 8.7 mm radius contact lens sensor and an orbital bandage containing a loop antenna were applied and connected to a portable recorder. Best corrected visual acuity and position, lubrication status and mobility of the sensor were assessed after 5 and 30 minutes, 4, 7 and 24 hours. Subjective comfort was scored and activities documented in a logbook. After sensor removal full eye examination was repeated, and the registration signal studied. Results: The comfort score was high and did not fluctuate significantly, except at the 7 hour-visit. The mobility of the contact lens was minimal but its lubrication remained good. Best corrected visual acuity was significantly reduced during the sensor wear and immediately after its removal. Three patients developed mild corneal staining. In all but one participant we obtained a registration IOP curve with visible ocular pulse amplitude. Conclusions: This 24 hour-trial confirmed the functionality and biocompatibility of SENSIMED Triggerfish® wireless contact lens sensor for IOP-fluctuation monitoring in volunteers. Further studies with a range of different contact lens sensor radii are indicated.

Plaidoyer pour une valorisation du jugement clinique dans la profession infirmière : les cas des plaies de pression et des chutes

Plusieurs infirmières pratiquant dans les centres d'hébergement se questionnent sur la pertinence d'utiliser systématiquement certaines échelles de mesure. Elles sont d'avis que l'utilisation ou les modalités entourant l'usage de ces échelles augmentent surtout leur charge de travail et ne contribuent pas toujours à l'amélioration de la qualité des soins. Face à cette préoccupation, la communauté de pratique de la Faculté des sciences infirmières de l'Université Laval sur les soins à l'aîné en centre d'hébergement (CP-FSI) a voulu explorer les fondements à la base des recommandations de ces différents instruments de mesure en l'occurrence l'échelle du risque de plaie de pression de Braden et les échelles d'évaluation des risques de chute. Un examen de la littérature scientifique et l'analyse de données empiriques amènent à la conclusion que l'utilisation systématique de ces échelles alourdit en effet la tâche des infirmières. Qui plus est, le jugement clinique infirmier est équivalent ou supérieur à l'utilisation de ces échelles. La CP-FSI conclut à l'importance de modifier les recommandations sur l'usage systématique de ces échelles et de plutôt valoriser le jugement clinique des infirmières.