La disfagia nell\u2019Ictus: analisi della nostra esperienza clinica.

La disfagia orofaringea, intesa come difficolt\ue0 del passaggio del bolo alimentare nelle strutture oro-faringee, ha un incidenza tra il 30-47% nei pazienti affetti da esiti di ictus cerebrale (Finestone, 2000; Burlato et al., 2003).Essa \ue8 pi\uf9 frequente nella prima settimana dopo l\u2019evento ictale (29%-64%), e la sua incidenza diminuisce progressivamente nella seconda-terza settimana (47%) per ridursi al 17% a due-quattro mesi dall\u2019evento acuto (Maronian N et al., 2003). Le complicanze pi\uf9 usuali a cui possono andare incontro i pazienti con disfagia sono la disidratazione, la malnutrizione e la polmonite da aspirazione (Westergren et al., 2001). Tali complicanze possono ostacolare i tempi e la qualit\ue0 del recupero funzionale e motorio dei pazienti. Ne consegue l\u2019importanza di una valutazione clinico-strumentale precoce (gi\ue0 in fase sub-acuta) da parte di un\u2019equipe multiprofessionale, al fine di prevenire le possibili complicanze e garantire una migliore prognosi. Lo scopo del nostro studio \ue8 stato quello di valutare l\u2019effetto del trattamento riabilitativo precoce sull\u2019outcome di un gruppo di pazienti disfagici secondariamente ad ictus

High-throughput mutational analysis of TOR1A in primary dystonia

<p>Abstract</p> <p>Background</p> <p>Although the c.904_906delGAG mutation in Exon 5 of <it>TOR1A </it>typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some ΔGAG mutation carriers present with late-onset focal dystonia. The aim of this study was to identify <it>TOR1A </it>Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia.</p> <p>Methods</p> <p>High resolution melting (HRM) was used to examine the entire <it>TOR1A </it>Exon 5 coding sequence in 1014 subjects with primary dystonia (422 spasmodic dysphonia, 285 cervical dystonia, 67 blepharospasm, 41 writer's cramp, 16 oromandibular dystonia, 38 other primary focal dystonia, 112 segmental dystonia, 16 multifocal dystonia, and 17 generalized dystonia) and 250 controls (150 neurologically normal and 100 with other movement disorders). Diagnostic sensitivity and specificity were evaluated in an additional 8 subjects with known ΔGAG DYT1 dystonia and 88 subjects with ΔGAG-negative dystonia.</p> <p>Results</p> <p>HRM of <it>TOR1A </it>Exon 5 showed high (100%) diagnostic sensitivity and specificity. HRM was rapid and economical. HRM reliably differentiated the <it>TOR1A </it>ΔGAG and c.863G>A mutations. Melting curves were normal in 250/250 controls and 1012/1014 subjects with primary dystonia. The two subjects with shifted melting curves were found to harbor the classic ΔGAG deletion: 1) a non-Jewish Caucasian female with childhood-onset multifocal dystonia and 2) an Ashkenazi Jewish female with adolescent-onset spasmodic dysphonia.</p> <p>Conclusion</p> <p>First, HRM is an inexpensive, diagnostically sensitive and specific, high-throughput method for mutation discovery. Second, Exon 5 mutations in <it>TOR1A </it>are rarely associated with non-generalized primary dystonia.</p

Sistema extrapiramidale: funzioni cognitive e comportamento.

no abstract availabl