Histoire des " Big Five " : OCEAN des cinq grands facteurs de la personnalité. Introduction du Big Five Inventory français ou BFI-FR

International audienceLa description de la personnalité a été conçue à partir d'une variété de points de vue théoriques et à différents niveaux d'abstraction. Dans l'étude de la personnalité, l'unité la plus fréquemment utilisée pour mesurer les différences individuelles a été le trait. Un consensus semble se dégager actuellement sur une taxonomie générale des traits de la personnalité, les cinq facteurs de la personnalité, connus sous le nom des " Big Five ", expression introduite par Goldberg. Le but de cet article est de resituer l'élaboration de la version originale du Big Five Inventory (BFI) de John, Donahue et Kentle (1991) dans son histoire, et parmi les autres tests disponibles le " TDA ou trait descriptive adjective " de Goldberg et le " NEO PI-R ou NEO personality inventory revised " de Costa et McCrae. La revue reprend les différents stades de conceptualisation des catégories qui furent élaborées à partir d'une sélection d'adjectifs de dictionnaires permettant de différencier un individu d'un autre. Seuls les traits seront utilisés pour l'élaboration des trois tests mentionnés. Les " Big Five " retrouvés à partir d'analyses factorielles peuvent se résumer en cinq facteurs réplicables connus sous le nom de OCEAN ou CANOE de la personnalité, moyen mnémotechnique pour E (Extraversion, Énergie, Enthousiasme) ; A (Agréabilité, Altruisme, Affection) ; C (Conscience, Contrôle, Contrainte) ; N (Émotions Négatives, Névrosisme, Nervosité) ; O (Ouverture, Originalité, Ouverture d'esprit), ordre établi par les auteurs du BFI. La structure des " Big Five " regroupe à un haut niveau d'abstraction les points communs de la plupart des systèmes existant sur la description de la personnalité et met à disposition un modèle descriptif intégré pour des recherches sur la personnalité

Usefulness of the bidirectional Glenn procedure as staged reconstruction for the functional single ventricle

The bidirectional Glenn operation may be particularly useful as an intermediate procedure before Fontan correction in high-risk patients. From October 1989 through February 1992, 50 patients 1 to 60 months old (median 12) have undergone a bidirectional Glenn operation. Diagnoses included hypoplastic left heart syndrome in 21 patients, pulmonary atresia with intact ventricular septum in 10, tricuspid valve atresia in 9, other complex univentricular heart defects in 9, and Ebstein's anomaly in 1. Mean pulmonary vascular resistance was 2.2 +/- 0.2 Wood U (range 0.5 to 7.3) and mean pulmonary artery area Nakata index was 318 +/- mm2/m2 (range 80 to 821). Additional procedures were performed in 17 patients, including pulmonary artery reconstruction in 15 (29%) and bilateral caval anastomoses in 5 (10%). There were 4 hospital deaths (8%). Two deaths resulted from myocardial infarction in patients with pulmonary atresia with intact ventricular septum and sinusoids and 1 from severe pulmonary vascular disease in a patient with hypoplastic left heart syndrome. There was 1 late death from pneumonia. Actuarial survival is 92 +/- 4% at 1 month and beyond, with a mean follow-up of 13.4 +/- 1 months. Risk factor analysis showed that pulmonary vascular resistance >3 Wood U and pulmonary artery distortion were associated with increased mortality. Twelve patients have undergone a Fontan procedure at a mean duration after bidirectional Glenn of 18 months with 1 death (8%). The bidirectional Glenn procedure provides excellent palliation in high-risk patients and appears useful as a staging procedure before Fontan correction.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/30841/1/0000503.pd

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (&gt;60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS‐like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or “DTRs”). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype–phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population

A simplified interventional mapping system (SIMS) for the selection of combinations of targeted treatments in non-small cell lung cancer

Non-small cell lung cancer (NSCLC) is a leading cause of death worldwide. Targeted monotherapies produce high regression rates, albeit for limited patient subgroups, who inevitably succumb. We present a novel strategy for identifying customized combinations of triplets of targeted agents, utilizing a simplified interventional mapping system (SIMS) that merges knowledge about existent drugs and their impact on the hallmarks of cancer. Based on interrogation of matched lung tumor and normal tissue using targeted genomic sequencing, copy number variation, transcriptomics, and miRNA expression, the activation status of 24 interventional nodes was elucidated. An algorithm was developed to create a scoring system that enables ranking of the activated interventional nodes for each patient. Based on the trends of co-activation at interventional points, combinations of drug triplets were defined in order to overcome resistance. This methodology will inform a prospective trial to be conducted by the WIN consortium, aiming to significantly impact survival in metastatic NSCLC and other malignancies

Parkinson's Disease The Psychological Aspects of a Chronic Illness

Parkinson's disease is a chronic neurological condition that presents primarily as a motoric disorder (tremor, rigidity, and bradykinesia). Although the symptoms can be controlled to some extent by medications, the disease remains incurable and progressive. Since the discovery of the underlying neuropathology of parkinsonism, research on its psychological aspects has had a biomedical orientation and has focused almost exclusively on the depression and cognitive impairment observed in a substantial proportion of Parkinson patients. Present evidence does not permit firm conclusions about the relative contributions of neurological and psychosocial factors to these symptoms. Methodological problems, reliance on indirect evidence, and the paucity of psychosocial data all contribute to the inconclusiveness of the findings. We argue that a comprehensive understanding of the psychological aspects of Parkinson's disease depends on combining the investigation of how individual patients experience and adapt (for better or for worse) to their illness with the prevailing biomedical approach to research

Patterns of Adaptation to Parkinson's Disease

Forty-four 50- to 80-year-old Parkinson patients were interviewed about the effects of the disease on their lives. The Q-sort technique was used to analyze the interview data. In addition, the Symptom Checklist 90, the Mini-Mental State, and physician ratings of disease severity were obtained. Four clusters of patients were identified. Cluster I patients were sanguine and engaged; Cluster II patients were depressed and apprehensive about the future; Cluster III patients felt depressed, ashamed, and misunderstood; and Cluster IV patients were passive and resigned. Disease severity, but not demographic or other health variables, discriminated the groups. Patients with a mild to moderate impairment who adjusted effectively to their illness (Cluster I) were distinguished by an ability to put negative thoughts out of mind, by their belief that there are worse fates than having Parkinson's disease, and by efforts to influence certain aspects of their illness. The particular patterns of adaptation of the patients who were depressed and misunderstood (Cluster III) and passive and resigned (Cluster IV) seemed primarily a function of physical condition. This suggests that the degree to which personal attitudes can influence adaptation to somatic disease is limited by specific realities of the disease. Key words: Parkinson's disease, psychosocial adjustment, coping, chronic illnes