0000000001151278
AUTHOR
B. Daubail
P09.084C - Strong interest of exome sequencing in progressive neurological diseases
International audience; Introduction: Neurogenetics represents a vast, complex, ever changing discipline whose diagnosis currently remains challenging, since clinical and/or imaging features frequently appear very unspecific, especially early in the evolution (cerebellar ataxia, tremor, dystonia...). In molecular diagnosis, current strategies usually include sequential investigations that may lead to long, tedious, expensive and disappointing patients care. Exome sequencing (ES) appears a promising approach for neurogenetics, apart from when nucleotide motif expansion disorders can be suspected. Materials and Methods: We recruited 48 individuals without cognitive development impairment, ref…
Supplementary Material for: Population-Based Validation of the iScore for Predicting Mortality and Early Functional Outcome in Ischemic Stroke Patients
Background: We aimed to determine the accuracy of the iScore for predicting mortality and early disability following ischemic stroke in a French population-based study. Methods: All patients with acute ischemic stroke were identified among residents of the city of Dijon, France, between 2006 and 2011, using a population-based stroke registry. The 30-day iScore and 1-year iScore were calculated. A logistic regression model was used to assess the performance of the iScore for predicting both 30-day and 1-year mortality, and poor functional outcome at discharge (modified Rankin Scale score of 3-6). The discrimination and calibration of the model were assessed using the c-statistic and the Hosm…