J Neurol Neurosurg Psychiatry
September 2023
Erdheim-Chester disease (ECD) is a rare condition with underestimated neurological involvement. Mild psychiatric symptoms such as mood swings have been rarely described in the clinical spectrum of neuro-ECD. We here describe the first patient with psychiatric manifestations of delirium revealing ECD with neurological involvement with favorable evolution under interferon followed by BRAF inhibitor monotherapy.
View Article and Find Full Text PDFBackground: The professional identities, profiles and representations of Burundian health workers remain insufficiently explored. Our twofold objective is to identify the different socio-professional profiles of first-line caregivers and to explore their respective representations of health workers and work.
Methods: The first study describes the overall population of the 1047 staff members employed in 2014-2015 in 62 health centers.
Objective: To assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.
Methods: Sixty-seven probands with various progressive neurological disorders (cerebellar ataxias, neuromuscular disorders, spastic paraplegias, movement disorders and individuals with complex phenotypes labelled 'other') were recruited over a 4-year period regardless of their age, gender, familial history and clinical framework. Individuals could have had prior genetic tests as long as it was not cES.