Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing. (C) 2008 Wiley-Liss, Inc.

OntoMap: an ontology-based architecture to perform the semantic mapping between an interlingua and software components

This paper is about the use of natural language to communicate with computers. Most researches that have pursued this goal consider only requests expressed in English. A way to facilitate the use of several languages in natural language systems is by using an interlingua. An interlingua is an intermediary representation for natural language information that can be processed by machines. We propose to convert natural language requests into an interlingua [universal networking language (UNL)] and to execute these requests using software components. In order to achieve this goal, we propose OntoMap, an ontology-based architecture to perform the semantic mapping between UNL sentences and software components. OntoMap also performs component search and retrieval based on semantic information formalized in ontologies and rules.

Is the unfolding of the group discussion off-pattern? Improving coordination support in educational forums using mobile devices

A forum is a valuable tool to foster reflection in an in-depth discussion; however, it forces the course mediator to continually pay close attention in order to coordinate learners` activities. Moreover, monitoring a forum is time consuming given that it is impossible to know in advance when new messages are going to be posted. Additionally, a forum may be inactive for a long period and suddenly receive a burst of messages forcing forum mediators to frequently log on in order to know how the discussion is unfolding to intervene whenever it is necessary. Mediators also need to deal with a large amount of messages to identify off-pattern situations. This work presents a piece of action research that investigates how to improve coordination support in a forum using mobile devices for mitigating mediator`s difficulties in following the status of a forum. Based on summarized information extracted from message meta-data, mediators consult visual information summaries on PDAs and receive textual notifications in their mobile phone. This investigation revealed that mediators used the mobile-based coordination support to keep informed on what is taking place within the forum without the need to log on their desktop computer. (C) 2009 Elsevier Ltd. All rights reserved.

ENERGY OF GLOBAL FRAMES

The energy of a unit vector field X on a closed Riemannian manifold M is defined as the energy of the section into T(1) M determined by X. For odd-dimensional spheres, the energy functional has an infimum for each dimension 2k + 1 which is not attained by any non-singular vector field for k > 1. For k = 1, Hopf vector fields are the unique minima. In this paper we show that for any closed Riemannian manifold, the energy of a frame defined on the manifold, possibly except on a finite subset, admits a lower bound in terms of the total scalar curvature of the manifold. In particular, for odd-dimensional spheres this lower bound is attained by a family of frames defined on the sphere minus one point and consisting of vector fields parallel along geodesics.

Framtagande av ICC-profiler fo¨r substrat till storformatskrivaren Mutoh Toucan PJ1614NXE : Creating ICC-profiles for substrate used at large format printer Mutoh Toucan PJ1614NXE

Detta examensarbete beskriver i detalj hur ICC-profiler fo¨r utskriftsmedier, i detta fall fo¨r storformatskrivare, skapas. Examensarbetet omfattade framtagande av ICC-profiler fo¨r substrat till storformatskrivaren Mutoh Toucan PJ-1614NXE (Mutoh Toucan) hos BEMI REKLAM AB (BEMI), Borla¨nge. Fo¨retaget har tidigare anva¨nt en standardlinja¨risering till samtliga substrat fo¨r storformatskrivaren, dock utan att applicera na°gon ICC-profil fo¨r utenheter. Samtliga substrat till Mutoh Toucan a¨r avsedda fo¨r utomhusbruk.

Rapport från 20th European Photovoltaic Solar Energy Conference and Exhibition : Barcelona 6-10 juni 2005

På uppdrag av STEM bevakade Eva Lindberg från Centrum för solenergi-forskning, SERC, Högskolan Dalarna, 20th European Photovoltaic Solar Energy Conference and Exhibition, Barcelona, 6-10 juni 2005. Ca 1700 personer fanns på deltagarlistan. På grund av konferensen omfattning kan endast ett litet urval av föredrag och utställare kommenteras i rapporten. Konferensprogrammet var indelat på följande områden:1. Grundläggande fakta, nya komponenter och material2. Kristallina kiselsolceller and materialteknologi3. Amorft och mikrokristallint kisel4. CIS, CdTe och andra (II-VI) ternära tunnfilmsceller5. PV-moduler och komponenter i PV-system6. PV-system i nätanslutna applikationer7. Globala aspekter på PV-solelektricitet8. PV-industrins resultatFoU om kristallina solceller dominerade stort, sedan tunnfilmsceller av främst amorft kisel. Intressant var att återvinning är föremål för FoU; dels återvinning av kiselsolceller när panelen tjänat ut; dels återvinning av Cu, Cd, Se och Te när tunnfilmscellerna tas ur bruk.237 företag fanns representerade i utställningen, varav 20 från Kina. Tyskland dominerade stort. Utställningen teman var följande: 1) Tillverkare av kiselplattor, solceller, PV-moduler, koncentratorer, solföljare (se bild nedan) 2) Tillverkare och återförsäljare av utrustning och material 3) Integrering och distribution av system 4) Mätningar och kontrollteknologi 5) Forskning och laboratorier 6) Service, teknik, konsulting 7) Myndigheter och föreningar 8) Media och förlag 9) Tillverkare av inverterare 10) Övrigt.