Assessment of needs, psychological impact and quality of life in families of patients with locked-in syndrome.

peer reviewedOBJECTIVE: Family needs of patients with acquired brain injuries have been studied for about three decades. In this study, we assessed the needs, the quality of life and the psychological state of relatives of patients with locked-in syndrome (LIS). DESIGN: A survey was carried out using the family needs' questionnaire (FNQ). SUBJECTS AND METHODS: Thirty relatives of patients with LIS fully completed the FNQ. RESULTS: The most important need reported by families corresponded to the need for medical information. The highest percentage of satisfaction (66%) was also observed for this need. Among the needs for information, specifically, the most important for LIS' relatives was to know that the patient's needs and wishes were respected by the professional staff, which were fulfilled in 93% of the sample. The need for emotional support was the least important and had the lowest percentage of satisfaction (55%). The number of met/unmet needs correlated with the quality of life of the families. Most of the relatives reported anxiety feelings and depressive thoughts. CONCLUSIONS: Receiving accurate medical information is the most important need for family of patients with LIS and their quality of life is correlated with the fulfilment of their needs

Attitudes towards personhood in the locked-in syndrome: from third- to first- person perspective and interpersonal significance

peer reviewedPersonhood is ascribed on others, such that someone who is recognized to be a person is bestowed with certain civils rights and the right to decision-making. A rising question is how severely brain-injured patients who regain consciousness can also regain their personhood. The case of patients with locked-in syndrome (LIS) is illustrative to this matter. Upon restoration of consciousness, patients with LIS find themselves in a state of profound demolition of their bodily functions. From the third-person perspective, it can be expected that LIS patients might experience a differential personal identity and maybe lose their status of persons. However, from the patients’ standpoint, it is uncontested that they retain their personal identity and they consider themselves as persons. We here assist this perspective by including self-reports from patients with LIS aimed at identifying the primary expectations of patients for their care by non-medical professionals. Based on these first-hand reports, we argue that personhood in LIS is progressively regained as the widening circle of others recognizes them as persons

Catalysis before Enzymes: Thiol-Rich Peptides as Molecular Diversity Providers on the Early Earth

International audienceThe multiplicity of simple molecules available on the primitive Earth probably made possible the development of extremely diverse prebiotic chemistry. The importance of thiols is widely recognized in the community studying the origin of life. De Duve’s “thioester world” has been considered a major contribution in this regard, where thioester bonds have high energies and thus can contribute to several chemical reactions. Herein, we propose specific models of thiols that exhibit unique activities toward several chemical reactions. Thanks to aminothiol and aminonitrile behaviors, we were able to obtain thiol-rich peptides with interesting catalytic activities leading to the formation of structurally diverse molecules. In a broader context, such chemistry could be introduced into systems chemistry scenarios in which it would be associated with the chemistry of nucleic acids or their precursors, as well as that of fatty acids

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

International audienc

Enhanced spin-capturing polymerization and radical coupling mediated by cyclic nitrones

A series of cyclic nitrones have been tested for their spin-trapping activity in the enhanced spin-capturing polymerization of styrene and in nitrone-mediated radical coupling reactions. rac-2-Isopropyl-2,3-dimethyl-1-oxy- 2,3-dihydro-imidazol-4-one was found to be the most efficient nitrone. The specific polystyrene macroradical addition rate to this nitrone was determined to be 8.010 3Lmol -1s -1, which is by a factor of 10 higher than for previously studied compounds. Via enhanced spin-capturing polymerization, polymers in the range of oligomers to 30000gmol -1 were obtained. A strong dependence of molecular weight on monomer conversion was observed, which can be explained by the high trapping rate. In nitrone-mediated radical coupling, almost ideal coupling of bromine-functional polymers was obtained and the successful introduction of the residual alkoxyamine functionality confirmed. © 2012 CSIRO

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

International audienceDysferlinopathies are a group of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene. This study presents clinical features and the mutational spectrum in the largest cohort of Chinese patients analyzed to date

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

International audienceMutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare autosomal recessive inherited neuromuscular disorders. As a step towards a better understanding of the DYSF mutational spectrum, and towards possible inclusion of patients in future therapeutic clinical trials, we set up the Universal Mutation Database for Dysferlin (UMD-DYSF), a Locus-Specific Database developed with the UMD (R) software. The main objective of UMD-DYSF is to provide an updated compilation of mutational data and relevant interactive tools for the analysis of DYSF sequence variants, for diagnostic and research purposes. In particular, specific algorithms can facilitate the interpretation of newly identified intronic, missense- or isosemantic-exonic sequence variants, a problem encountered recurrently during genetic diagnosis in dysferlinopathies. UMD-DYSF v1.0 is freely accessible at www.umd.be/DYSF/. It contains a total of 742 mutational entries corresponding to 266 different disease-causing mutations identified in 558 patients worldwide diagnosed with dysferlinopathy. This article presents for the first time a comprehensive analysis of the dysferlin mutational spectrum based on all compiled DYSF disease-causing mutations reported in the literature to date, and using the main bioinformatics tools offered in UMD-DYSF

Advancing the science of consciousness: from ethics to clinical care

Significant advances in the scientific investigation of the neurobiology of consciousness have been slow to be translated into clinical settings, limited by factors of conceptual (e.g., what is consciousness?), methodological (e.g., how to identify reliable indicators of consciousness?), and technical (e.g., how to improve sensitivity and specificity of the technological identification of consciousness?) nature. In the present paper we aim at reducing the gap between research, clinical practice, patients’ and their caregivers’ needs regarding disorders of consciousness. By implementing a multidisciplinary and multidimensional approach, the paper focuses on disorders of consciousness: it starts from the review of some of the most promising measures of consciousness from brain activity (i.e., spectral measures, measures of functional connectivity, complexity-based measures). Next the paper introduces brain responses to illusions as a new indicator of consciousness (i.e., a feature that facilitates the attribution of consciousness), and illustrates the clinical operationalization of the indicators of consciousness through the case of virtual reality. Finally, the paper analyzes a set of urgent ethical issues and describes a model for assessing and dealing with those issues, concluding by elaborating key recommendations for improving the clinical treatment of patients with disorders of consciousness through a better translation of research into clinics