13 research outputs found
Active Response to the Past Imperfect: Elizabeth Spencer’s Starting Over
Starting Over (2014), le plus récent recueil de nouvelles d’Elizabeth Spencer, présente des personnages qui font face aux éléments tenaces de leur passé. Les nouvelles montrent que bien qu’il soit bon de prendre des décisions qui mènent à établir des relations, il est aussi important de mettre fin à une relation malsaine ou de refuser un conflit. Dans certains cas, les connections sont plus personnelles qu’interpersonnelles et les personnages utilisent leur imagination afin de définir leurs relations passées. Les nouvelles de Spencer contenues dans Starting Over suggèrent que les personnages ont la possibilité de réagir différemment dans les conflits intérieurs ou au sein de leurs relations
Special Issue: Elizabeth Spencer
IN MEMORIAM Elizabeth Spencer Michel Bandry Claude Maisonnat Danièle Pitavy-Souque
Early onset seizures and Rett-like features associated with mutations in CDKL5
Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with CDKL5 mutations sometimes also show features similar to those seen in Rett Syndrome (RTT). We have screened the CDKL5 gene in 94 patients with RTT or a RTT-like phenotype who had tested negative for MECP2 mutations (13 classical RTT female subjects, 25 atypical RTT female subjects, 40 RTT-like female and 16 RTT-like male subjects; 33 of the patients had early onset seizures). Novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of RTT and the other with early onset seizures and some features of RTT. In addition, the 33 patients with early seizures were screened for the most common mutations in the ARX gene but none were found. Combining our three new cases with the previously published cases, 13/14 patients with CDKL5 mutations presented with seizures before the age of 3 months.Julie C Evan, Hayley L Archer, James P Colley, Kirstine Ravn, Jytte Bieber Nielsen, Alison Kerr, Elizabeth Williams, John Christodoulou, Jozef GĂ©cz, Philip E Jardine, Michael J Wright, Daniela T Pilz, Lazarus Lazarou,David N Cooper, Julian R Sampson, Rachel Butler, Sharon D Whatley and Angus J Clark
Ethics and Law: Guiding the Invisible Hand to Correct Corporate Social Responsibility Externalities
Carroll, corporate social responsibility, discretionary, economic, ethical, legal, voluntary, sustainability,