127 research outputs found
Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females
Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. Heterozygous females are affected while hemizygous males are spared, this unusual mode of inheritance being probably due to a mechanism called cellular interference. To extend the mutational and clinical spectra associated with PCDH19, we screened 150 unrelated patients (113 females) with febrile and afebrile seizures for mutations or rearrangements in the gene. Fifteen novel point mutations were identified in 15 female patients (6 sporadic and 9 familial cases). In addition, qPCR revealed two whole gene deletions and one partial deletion in 3 sporadic female patients. Clinical features were highly variable but included almost constantly a high sensitivity to fever and clusters of brief seizures. Interestingly, cognitive functions were normal in several family members of 2 families: the familial condition in family 1 was suggestive of Generalized Epilepsy with Febrile Seizures Plus (GEFS+) whereas all three affected females had partial cryptogenic epilepsy. These results show that mutations in PCDH19 are a relatively frequent cause of epilepsy in females and should be considered even in absence of family history and/or mental retardation. © 2010 Wiley-Liss, Inc
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
Neuronal migration disorders such as lissencephaly and subcortical band heterotopia are associated with epilepsy and intellectual disability. DCX, PAFAH1B1 and TUBA1A are mutated in these disorders; however, corresponding mouse mutants do not show heterotopic neurons in the neocortex. In contrast, spontaneously arisen HeCo mice display this phenotype, and our study revealed that misplaced apical progenitors contribute to heterotopia formation. While HeCo neurons migrated at the same speed as wild type, abnormally distributed dividing progenitors were found throughout the cortical wall from embryonic day 13. We identified Eml1, encoding a microtubule-associated protein, as the gene mutated in HeCo mice. Full-length transcripts were lacking as a result of a retrotransposon insertion in an intron. Eml1 knockdown mimicked the HeCo progenitor phenotype and reexpression rescued it. We further found EML1 to be mutated in ribbon-like heterotopia in humans. Our data link abnormal spindle orientations, ectopic progenitors and severe heterotopia in mouse and human
Recommandations diagnostiques et de prise en charge thérapeutique des syndromes douloureux régionaux complexes : les recommandations de Lille
La SociĂ©tĂ© française dâĂ©tude et de traitement de la douleur prĂ©sente les recommandations de diagnostic et de prise en charge des syndromes douloureux rĂ©gionaux complexes. Ces recommandations ont Ă©tĂ© Ă©laborĂ©es par des experts hosâ pitaliers et libĂ©raux (rhumatologue, neurologue, anesthĂ©siste, chirurgien orthopĂ©dique, mĂ©decin nuclĂ©aire, algologue, mĂ©decin gĂ©nĂ©raliste, psychologue, infirmiĂšre, IAD, kinĂ©siâ thĂ©rapeute) et un reprĂ©sentant dâassociation de patients. Une analyse systĂ©matique de la littĂ©rature a Ă©tĂ© rĂ©alisĂ©e. Vingtâsix recommandations sont proposĂ©es. Elles mettent en avant lâutiâ lisation des critĂšres de Budapest pour le diagnostic clinique, la prise en charge rĂ©adaptative proposĂ©e systĂ©matiquemen
Le modÚle biopsychosocial: Beaucoup plus qu'un supplément d'empathie
Despite several limits, the biopsychosocial model is the best available medical model today. However, it is still misunderstood and underused. On a theoretical point of view, this system of health-explanatory hypotheses considers biological, psychological and social factors on equal grounds, in a complex, multiple and circular system of causes and effects. A clinical practice derived from this model permanently integrates the biological, psychological and social perspectives. It necessitates active participation of the patient and stresses the importance of educational aspects. The therapeutic relationship is deeply modified. A better diffusion of the biopsychosocial model necessitates changes in teaching, research and increased resources allocated to the clinical encounter
La standardisation des soins : perspectives et propositions
Ne niant pas la standardisation des soins dans la pratique soignante, l'auteur la dénonce parce qu'elle ne tient pas compte de la réalité des situations individuelles. Elle fait aussi part de sa nette préférence pour un modÚle biopsychosocial de la santé, qu'elle préfÚre à la gestion politico-économique actuelle de la sant
ProgrÚs récents dans le diagnostic et le traitement du syndrome douloureux régional complexe
Le syndrome douloureux rĂ©gional complexe (anciennement appelĂ© algodystrophie) reste difficile Ă diagnostiquer et Ă traiter. De nouveaux critĂšres diagnostiques dâapplication aisĂ©e, basĂ©s sur lâinterrogatoire du patient et lâexamen clinique, ont Ă©tĂ© rĂ©cemment proposĂ©s et mĂ©ritent une large diffusion. Sur le plan thĂ©rapeutique, les donnĂ©es physiopathogĂ©niques suggĂ©rant une perturbation de lâintĂ©gration sensori-motrice ont inspirĂ© des approches prometteuses. En particulier, un programme de rĂ©Ă©ducation associant reconnaissance de latĂ©ralitĂ©, imagerie mentale et mobilisation devant un miroir a montrĂ© une amĂ©lioration significative de la douleur et des capacitĂ©s fonctionnelles, dans une Ă©tude contrĂŽlĂ©e randomisĂ©e en simple aveugle. Ce traitement est non invasif, peu coĂ»teux, sans effet secondaire grave et favorise lâautonomisation des patient
La médecine fondée sur les preuves : un outil de contrÎle des soins de santé ? Application au traitement de la douleur
Evidence-based medicine (EBM) is described by its proponents as the only tool allowing a valid and unbiased evaluation of diagnostic and therapeutic medical procedures. As a consequence, numerous health-care managers consider it a method of distinguishing between effective procedures deserving funding and those found ineffective. Several authors, however, have questioned the capacity of EBM to achieve these objectives on epistemological, methodological, ethical, political, economical, anthropological and sociological grounds. A review of their objections shows that, although EBM is a powerful tool for analysing specific, well-defined questions, a wide range of clinical problems, such as chronic pain management, cannot be adequately assessed by its methods. The dogmatic use of EBM, therefore, is philosophically and scientifically unsound, alienating for patients and clinicians, and unethical. It contributes to the expansion of the biomedical model of clinical care at the expense of the more appropriate biopsychosocial model
Transition et soins de santé
Les soins de santĂ© sont en crise et ce nâest pas (uniquement) la faute dâun virus... La pandĂ©mie que nous traversons actuellement a servi de rĂ©vĂ©lateur Ă un malaise beaucoup plus profond dont tĂ©moigne, par exemple, le collectif « santĂ© en lutte1 ». Le manque de personnel, le sous-financement du temps passĂ© avec le patient et lâinflation administrative induisent Ă©puisement et dĂ©motivation. Lâessentiel â le soin (« care ») â est de plus en plus rĂ©duit Ă la portion congrue. Quâune rĂ©forme soit nĂ©cessaire ne semble heureusement plus contestĂ©. Mais quelle forme prendra celle-ci ? Suffira-il dâaugmenter le financement de certaines activitĂ©s ? Par ailleurs, les modifications environnementales qui sâannoncent â rĂ©chauffement climatique, pic pĂ©trolier et leurs consĂ©quences â ont de plus en plus dâimpact sur la santĂ© des populations et rĂ©duiront les moyens matĂ©riels dont nous disposerons pour les soigner. De plus, les soins de santĂ© contribuent Ă la dĂ©gradation de lâenvironnement, tant en termes dâĂ©missions de CO2 que de largage de divers polluants. Pourtant, la dimension environnementale est habituellement absente des discussions concernant la rĂ©forme des soins de santĂ©. Lorsquâelle est prĂ©sente2, elle se limite Ă la question de lâadaptation du systĂšme de soins aux modifications climatiques, sans aborder lâautre versant de cette question, la responsabilitĂ© environnementale des soins de santĂ©. Cette Ă©tude a pour objectif dâouvrir le dĂ©bat sur le sujet en abordant successivement les interactions Ă double sens entre environnement et (soins de) santĂ©, puis quelques paradoxes du systĂšme actuel et enfin les grandes lignes dâune stratĂ©gie possible de soins de santĂ© durables
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