88 research outputs found
Allegory and animals in Olive Schreiner’s Undine : A Queer Little Child (1929)
Written and abandoned in the 1870s, and published posthumously in 1929, Undine: A Queer Little Child has remained on the margins of Olive Schreiner (1855-1920) studies, repeatedly dismissed as a juvenile and poor antecedent to The Story of An African Farm (1883), or deemed valuable primarily for its autobiographical content. This article redresses these schematic readings by analysing how Schreiner draws on allegorical forms in order to explore aspects of her burgeoning radicalism. Focusing on one of the main allegorical thrusts of the novel, provided by the zoomorphic and anthropomorphic animal characters that descend from mythical, fairytale, and Ancient Greek philosophical origins, it investigates how the protagonist’s metaphorically significant associations with animals relate to freethinking, feminist, and anti-imperialist ideas introduced by the novel. Undine thus undermines dominant nineteenth-century models of the “primitive” human or animal as less evolutionarily developed and without political platform, which can be seen to be a liberating move when the novel is read in dialogue with Jacques Derrida’s lectures on animals, and with other recent work in postcolonial ecocriticism
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
OBJECTIVE: Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome, formerly ICCA). There is interfamilial and intrafamilial variability and the patients may have IC or PKD. Association of IC with hemiplegic migraine (HM) has also been reported. In order to explore the mutational and clinical spectra, we analyzed 34 additional families with either typical PKD/IC or PKD/IC with migraine.
METHODS: We performed Sanger sequencing of all PRRT2 coding exons and of exon-intron boundaries in the probands and in their relatives whenever appropriate.
RESULTS: Two known and 2 novel PRRT2 mutations were detected in 18 families. The p.R217Pfs*8 recurrent mutation was found in ≈50% of typical PKD/IC, and the unreported p.R145Gfs*31 in one more typical family. PRRT2 mutations were also found in PKD/IC with migraine: p.R217Pfs*8 cosegregated with PKD associated with HM in one family, and was also detected in one IC patient having migraine with aura, in related PKD/IC familial patients having migraine without aura, and in one sporadic migraineur with abnormal MRI. Previously reported p.R240X was found in one patient with PKD with migraine without aura. The novel frameshift p.S248Afs*65 was identified in a PKD/IC family member with IC and migraine with aura.
CONCLUSIONS: We extend the spectrum of PRRT2 mutations and phenotypes to HM and to other types of migraine in the context of PKD/IC, and emphasize the phenotypic pleiotropy seen in patients with PRRT2 mutationsjournal articleresearch support, non-u.s. gov't2012 Nov 202012 10 17importedComment in : Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes. [Neurology. 2012
Les accident vasculaires cérébraux ischémiques artériels de l'enfant : proposition d'un algorithme dans le bilan étiologique
REIMS-BU Santé (514542104) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
Les anomalies de la substance blanche dans les syndromes neuro-cutanés
REIMS-BU Santé (514542104) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
L' hémiatrophie faciale progressive associée aux anévrysme cérébraux chez l'enfant et l'adolescent
REIMS-BU Santé (514542104) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
Fatal Echovirus 18 Leukoencephalitis in a Child▿
Rare cases of leukoencephalitis have been reported in infants with documented enterovirus (EV) central nervous system (CNS) infections. A case of fatal encephalitis with white matter lesions caused by echovirus 18 is described, and it highlights the role of EV CNS infection as a potential cause of leukoencephalitis in infants
Infectious oligo-arthritis in rheumatoid arthritis. Report of two cases
SCOPUS: ar.jinfo:eu-repo/semantics/publishe
Oligo-arthrite infectieuse dans l'arthrite rhumatoïde. A propos de deux cas.
Case ReportsJournal Articleinfo:eu-repo/semantics/publishe
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