Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COlQ) cause recessive forms of synaptic CMS with end plate AChE deficiency. We present data on 15 COLQ -mutant CMS carrying 16 different mutations (9 novel ones identified) followed-up for an average period of 10 ears. The mean age at the first examination was 19 ears old (range from 3 to 48). We report relapses during short or long-term periods characterized by worsening of muscle weakness sometimes associated with respiratory crises. All the relapses ended spontaneously or with 3-4 DAP or ephedrine with no residual impairment. The triggering factors identified were esterase inhibitors, effort, puberty or pregnancy highlighting the importance of hormonal factors. There was no genotype-phenotype correlation. At the end of the follow-up, 80% of patients were ambulant and 87% of patients had no respiratory trouble in spite of severe relapses

Zinc oxide nanocomposites for solar energy conversion and LED applications

International audienceAn overwhelming economic improvement for white LED and photovoltaic (PV) markets is based on the use of lanthanide-free phosphors that are supposed to convert UV light into visible one, thanks to down-conversion (DS) process. ZnO nanoparticles (NPs) have aroused an increasing interest since they possess a variety of intrinsic defects that provide light emission in the visible range without the introduction of any additional impurity. However, high photoluminescent quantum yield (PLQY), stable green/yellow emission and easy scale–up process are expected for industrial applications. Li-doping and polymer surface modifications of ZnO nanoparticles are mainly used in order to reach high PLQY (> 30 %) but PLQY decay over few days, uses of sophisticated polymers or multi-step reactions are the main issues for industrial implementation. In collaboration with the company Lotus Synthesis, we developped and patented an industry-capable and cost effective chemical solution process to get unique mesospheric self-assembly hybrid ZnO system with intense (PLQY = 40 - 75 %) and stable visible emissions. We also demonstrate that the use of mixture of commercial polyacrylic acid-based polymers can provide large scale amounts of ZnO NPs clear water suspensions that can be dried and dispersed again in water without compromising the functional performance (e.g. transparency and PLQY) of the final DS layer. We will then address the effects of the ZnO NPs surface functionalization - such as nature, molecular weight, concentration, ratio of the PAA-based polymers and self-assembly process- on the enhancement of the efficiency of DS hybrid materials for LED and PV markets

Proteomic analysis identifies argininosuccinate synthase 1 as a useful biomarker for hepatocellular adenoma classification and patient management

International audienc