1,721,279 research outputs found
Therapy of collagen VI-related myopathies (Bethlem and Ullrich)
No full textThe collagen VI-related myopathies comprise two major forms, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), which show a variable combination of muscle wasting and weakness, joint contractures, distal laxity, and respiratory compromise. Specific diagnosis requires molecular genetic testing showing mutation in one of the three genes involved. This review summarizes current treatments, in particular indication for physiotherapy, orthopedic treatment for correction of foot deformity, scoliosis, and flexion contractures of elbows, and treatment of respiratory failure. The turning point in basic research on collagen VI myopathies was the discovery of an unexpected mitochondrial dysfunction as a pathogenetic mechanism underlying the myopathic syndrome seen in Col6a1 null mice. Treatment of Col6a1-/- mice with cyclosporin A (CsA) rescued the mitochondrial dysfunction and decreased apoptosis. Similar mitochondrial defects
were revealed in cultures of UCMD patients. The results of an open pilot trial with CsA in five patients with collagen VI-related myopathies are summarized and discussed. With the availability of new potential effective treatments, several challenges must be addressed in conducting trials in orphan diseases and in neuromuscular disorders in particular. Outcome measures are discussed in the context of the expected effect of the cure. Randomized clinical trials often are not feasible for rare diseases, and sometimes would be ethically inappropriate. The need to develop alternative outcome measures or biomarkers using platforms such as genomics and proteomics is stressed in this context
OMAGGIO A DEDALO. Case sognate sul fiume Platani
No full textIl fiume Platani racconta dell’arrivo e della presenza di Dedalo in Sicilia. E poiché il mito non ha tempo si immagina che diversi architetti vadano a trovare Dedalo sulle rive del fiume - dove abita ancora - per chiedergli consigli su certi loro progetti, come una volta gli uomini andavano a Delfi, a Cuma o a Lylibeo per interrogare l’oracolo. I responsi di Dedalo sono famosi progetti di case mai costruite (o scomparse) che bisogna confrontare e fare interferire con i temi moderni dell’abitare e del costruire. «Tra gl’Immortali [direbbe Borges] ogni atto (e ogni pensiero) è l’eco d’altri che nel passato lo precedettero [...] o il fedele presagio di altri che nel futuro lo ripeteranno fino alla vertigine». L’interpretazione genera le case sognate del fiume Platani che, in una studiata contiguità/continuità, restituisce un pensiero disegnato di architettura che forma - grazie all’astuzia di Dedalo - un fiume di case, un nuovo labirinto.The Platani River tells of the arrival and presence of Daedalus in Sicily. And since the myth has no time, it is imagined that several architects go to find Daedalus on the banks of the river - where he still lives - to ask him for advice on some of their projects, as men once went to Delphi, Cumae or Lylibeo to interrogate the oracle. Dedalo's responses are famous projects of houses never built (or disappeared) that must be compared and made to interfere with the modern themes of living and building. The interpretation generates the dreamed houses of the Platani river which, in a studied contiguity / continuity, restores a drawn thought of architecture that forms - thanks to Dedalo's cunning - a river of houses, a new maze
Alkylation of resorcinols with monterpenoid allylic alcohols in aqueous acid. Synthesis of new cannabinoid derivatives
No full textWittig reaction on o-quinones. New synthesis of 2,2-dimethylchro¬menes via quinonemethides.
No full textAlkylation of resorcinols with monoterpenoid allylic alcohols in aqueous acid. Synthesis of new cannabinoid derivatives
No full text
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Du rapport écrit au rapport à l'écriture. Construction d'une compétence scripturale pour communiquer dans un contexte professionnel
No full textIl contributo evidenzia alcune competenze necessarie alla comunicazione scritta in francese lingua straniera scegliendo come campo la produzione di un rapporto scritto. Basandosi su un corpus costituito da testi scritti da studenti coinvolti in un’attività di problem solving aziendale, si prendono in esame i processi redazionali che entrano nella produzione di tale genere discorsivo in un contesto accademico. La somministrazione di un questionario di autovalutazione agli studenti permette inoltre di determinare la loro percezione delle difficoltà incontrate, nonché di focalizzare le potenzialità didattiche della produzione scritta
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