Estudi de xarxes socials interactives amb gent de Síndrome de Down i disseny d'un primer prototip

En aquest PFC s’ha investigat si les xarxes socials poden ser una eina útil i enriquidora per persones amb Síndrome de Down. S’han estudiat els diferents tipus i objectius que tenen les xarxes socials més comunes, i a partir de les característiques de les persones amb SD, s’ha definit un nou tipus de xarxa social que compleix les necessitats dels usuaris. Els usuarisinvolucrats en aquest PFC no sempre saben exterioritzar els seus sentiments i opinions així que s’han buscat altres formes d’arribar a comprendre les seves necessitats. En una primera fase dedisseny centrat en l’usuari s’han trobat solucions a característiques especials del perfil dels usuaris. Més tard en una segona fase de disseny contextual s’ha comprès l’entorn dels usuaris a través, entre d’altres, d’una entrevista amb els pares dels usuaris. En tercer lloc, en la fase dedisseny centrat en l’ús s’han definit millor els diferent rols, tasques, continguts i navegació de la xarxa social. El nou model de xarxa social utilitzarà avanços tecnològics per facilitar l’accessibilitat com un pendrive d’identificació digital o un tutor virtual, a més a més decomptar amb la participació activa a la xarxa social dels familiars dels usuaris per motivar-los.Finalment amb el software Macromedia Fireworks 8 s’ha creat un primer prototip simulant les diferents característiques, directrius i solucions tractades anteriorment en les etapes de disseny.

NF-kappaB transmits Eda A1/EdaR signalling to activate Shh and cyclin D1 expression, and controls post-initiation hair placode down growth.

A novel function of NF-kappaB in the development of most ectodermal appendages, including two types of murine pelage hair follicles, was detected in a mouse model with suppressed NF-kappaB activity (c(IkappaBalphaDeltaN)). However, the developmental processes regulated by NF-kappaB in hair follicles has remained unknown. Furthermore, the similarity between the phenotypes of c(IkappaBADeltaN) mice and mice deficient in Eda A1 (tabby) or its receptor EdaR (downless) raised the issue of whether in vivo NF-kappaB regulates or is regulated by these novel TNF family members. We now demonstrate that epidermal NF-kappaB activity is first observed in placodes of primary guard hair follicles at day E14.5, and that in vivo NF-kappaB signalling is activated downstream of Eda A1 and EdaR. Importantly, ectopic signals which activate NF-kappaB can also stimulate guard hair placode formation, suggesting a crucial role for NF-kappaB in placode development. In downless and c(IkappaBalphaDeltaN) mice, placodes start to develop, but rapidly abort in the absence of EdaR/NF-kappaB signalling. We show that NF-kappaB activation is essential for induction of Shh and cyclin D1 expression and subsequent placode down growth. However, cyclin D1 induction appears to be indirectly regulated by NF-kappaB, probably via Shh and Wnt. The strongly decreased number of hair follicles observed in c(IkappaBalphaDeltaN) mice compared with tabby mice, indicates that additional signals, such as TROY, must regulate NF-kappaB activity in specific hair follicle subtypes.

Myostatin augments muscle-specific ring finger protein-1 expression through an NF-kB independent mechanism in SMAD3 null muscle.

Smad (Sma and Mad-related protein) 2/3 are downstream signaling molecules for TGF-β and myostatin (Mstn). Recently, Mstn was shown to induce reactive oxygen species (ROS) in skeletal muscle via canonical Smad3, nuclear factor-κB, and TNF-α pathway. However, mice lacking Smad3 display skeletal muscle atrophy due to increased Mstn levels. Hence, our aims were first to investigate whether Mstn induced muscle atrophy in Smad3(-/-) mice by increasing ROS and second to delineate Smad3-independent signaling mechanism for Mstn-induced ROS. Herein we show that Smad3(-/-) mice have increased ROS levels in skeletal muscle, and inactivation of Mstn in these mice partially ablates the oxidative stress. Furthermore, ROS induction by Mstn in Smad3(-/-) muscle was not via nuclear factor-κB (p65) signaling but due to activated p38, ERK MAPK signaling and enhanced IL-6 levels. Consequently, TNF-α, nicotinamide adenine dinucleotide phosphate oxidase, and xanthine oxidase levels were up-regulated, which led to an increase in ROS production in Smad3(-/-) skeletal muscle. The exaggerated ROS in the Smad3(-/-) muscle potentiated binding of C/EBP homology protein transcription factor to MuRF1 promoter, resulting in enhanced MuRF1 levels leading to muscle atrophy.

Actividade Física e Síndrome de Down Prática de Actividade Física para as Crianças com Síndrome de Down no E.B.I. na Praia Urbana

O presente trabalho subordinado ao tema “Actividade Física e Síndrome de Down – A Prática de Actividade Física para as Crianças com Síndrome de Down no E.B.I. na Praia Urbana” visou recolher informações e opiniões dos professores do E.B.I. acerca da participação das Crianças com Síndrome de Down nas Actividades Físicas ou mesmo nas aulas de Educação Física. O objectivo principal deste estudo é determinar e revelar a forma mais adequada de trabalhar em harmonia o físico e a mente das Crianças Down. Para a recolha de dados foi aplicado um questionário dirigido a 120 professores em várias escolas da Praia Urbana, assim como inúmeras consultas de variadas bibliografias específicas e especializadas neste campo, nomeadamente, Actividades Físicas para pessoas com Necessidades Educativas Especiais (NEE) e observação de vídeos na área de actividade físicas com crianças com Síndrome de Down. Segundo os dados analisados, a maioria dos professores questionados não está preparada para enfrentar o dilema das crianças com NEE principalmente as com Síndrome de Down (SD). Ainda conforme o mesmo estudo ficou bem explícito que a falta de preparação dos professores influencia directamente a participação dessas crianças nas aulas de Educação Física (EF). A maior parte dos professores manifestou o desejo e a vontade de ter uma formação ou um instrumento de guia que possa facilitar e ajudar no trabalho com tais crianças. É bastante vincada a consciência de integração e importância da inserção dessas crianças/alunos nas aulas de Educação Física ou em qualquer outra Actividade Física, justificando que tal atitude contribui para que a criança/aluno possa cuidar de si. Tornando-se mais independente no seu quotidiano, elas já poderão participar na vida familiar da escola obtendo assim mais rendimento nos estudos e no trabalho, podendo assumir um papel de liberdade profissional e emocional. Depois da análise destas reflexões, ficou bastante claro que é necessário uma preparação mais profunda dos professores assim como um documento que possa servir de suporte de pesquisa para todos aqueles que pretendem trabalhar com das crianças/aluno com Síndrome de Down.

Consumer Advisory Bulletin, Payday Loans" -- Dollars Down the Drain?, April 2005

The Attorney General’s Consumer Protection Division receives hundreds of calls and consumer complaints every year. Follow these tips to avoid unexpected expense and disappointments. This record is about:"Payday Loans" -- Dollars Down the Drain?

It's parties that choose electoral systems (or Duverger's Law upside down)

This article presents, discusses and tests the hypothesis that it is the number of parties what can explain the choice of electoral systems, rather than the other way round. Already existing political parties tend to choose electoral systems that, rather than generate new party systems by themselves, will crystallize, consolidate or reinforce previously existing party configurations. A general model develops the argument and presents the concept of 'behavioral-institutional equilibrium' to account for the relation between electoral systems and party systems. The most comprehensive dataset and test of these notions to date, encompassing 219 elections in 87 countries since the 19th century, are presented. The analysis gives strong support to the hypotheses that political party configurations dominated by a few parties tend to establish majority rule electoral systems, while multiparty systems already existed before the introduction of proportional representation. It also offers the new theoretical proposition that strategic party choice of electoral systems leads to a general trend toward proportional representation over time.

A very rare cancer in Down syndrome: medulloblastoma. Epidemiological data from 13 countries.

Persons with Down syndrome (DS) uniquely have an increased frequency of leukemias but a decreased total frequency of solid tumors. The distribution and frequency of specific types of brain tumors have never been studied in DS. We evaluated the frequency of primary neural cell embryonal tumors and gliomas in a large international data set. The observed number of children with DS having a medulloblastoma, central nervous system primitive neuroectodermal tumor (CNS-PNET) or glial tumor was compared to the expected number. Data were collected from cancer registries or brain tumor registries in 13 countries of Europe, America, Asia and Oceania. The number of DS children with each category of tumor was treated as a Poisson variable with mean equal to 0.000884 times the total number of registrations in that category. Among 8,043 neural cell embryonal tumors (6,882 medulloblastomas and 1,161 CNS-PNETs), only one patient with medulloblastoma had DS, while 7.11 children in total and 6.08 with medulloblastoma were expected to have DS. (p 0.016 and 0.0066 respectively). Among 13,797 children with glioma, 10 had DS, whereas 12.2 were expected. Children with DS appear to be specifically protected against primary neural cell embryonal tumors of the CNS, whereas gliomas occur at the same frequency as in the general population. A similar protection against neuroblastoma, the principal extracranial neural cell embryonal tumor, has been observed in children with DS. Additional genetic material on the supernumerary chromosome 21 may protect against embryonal neural cell tumor development.

Breaking down the barriers between literature and language in the EFL classroom

Aquest treball gira entorn la qüestió de l’ús que es fa de la literatura com a medi per a l’ensenyament de l’anglès com a segona llengua. En primer lloc, dibuixa el marc de la situació actual on hi ha una clara separació entre llengua i literatura com a assignatures diferenciades i fa un repàs de les diferents metodologies que al llarg de la historia han utilitzat la literatura com a eina d’aprenentatge de la llengua. Segonament, el treball explica el desenvolupament i posada en pràctica d’una unitat didàctica completa per a alumnes de segon de batxillerat, que te la literatura con a punt de sortida. El treball mira de concloure com la utilització de la literatura exerceix un poder de motivació clau en els alumnes i aporta un context que dona sentit i riquesa a l’ensenyament de la llengua. Per últim, el treball fa un recull de les opinions de professors d’anglès de Catalunya al respecte d’aquest tema, a través d’un qüestionari que 66 professors associats a l’APAC (Associació de Professors d’Anglès de Catalunya) van respondre de manera desinteressada.

The meiosis-specific recombinase hDmc1 forms ring structures and interacts with hRad51.

Eukaryotic cells encode two homologs of Escherichia coli RecA protein, Rad51 and Dmc1, which are required for meiotic recombination. Rad51, like E.coli RecA, forms helical nucleoprotein filaments that promote joint molecule and heteroduplex DNA formation. Electron microscopy reveals that the human meiosis-specific recombinase Dmc1 forms ring structures that bind single-stranded (ss) and double-stranded (ds) DNA. The protein binds preferentially to ssDNA tails and gaps in duplex DNA. hDmc1-ssDNA complexes exhibit an irregular, often compacted structure, and promote strand-transfer reactions with homologous duplex DNA. hDmc1 binds duplex DNA with reduced affinity to form nucleoprotein complexes. In contrast to helical RecA/Rad51 filaments, however, Dmc1 filaments are composed of a linear array of stacked protein rings. Consistent with the requirement for two recombinases in meiotic recombination, hDmc1 interacts directly with hRad51.

Anorectal malformation and Down's syndrome in monozygotic twins.

Anorectal malformation (ARM) can be divided in high, intermediate, and low forms according to the level of termination of the rectum in relation to the pubococcygeal and ischiatic lines. Patients with Down's syndrome have a high incidence of gastrointestinal anomalies, such as tracheoesophageal fistula, duodenal obstruction, annular pancreas, Hirschsprung's disease, and ARM. In these children, ARM is generally low with or without a fistula. The mode of inheritance of ARM and its genetic relation with Down's syndrome is not known, even if the association (ARM-Down's syndrome) seems not to be coincidental. We describe here a very rare case of monozygotic twins born with the association of ARM and Down's syndrome.

Diffuse large B-cell lymphoma of Waldeyer's ring has distinct clinicopathologic features: a GELA study.

BACKGROUND: Diffuse large B-cell lymphomas (DLBCLs) arising in specific extranodal sites have peculiar clinicopathologic features. PATIENTS AND METHODS: We analyzed a cohort of 187 primary Waldeyer's ring (WR) DLBCLs retrieved from GELA protocols using anthracyclin-based polychemotherapy. RESULTS: Most patients (92%) had stage I-II disease. A germinal center B-cell-like (GCB) immunophenotype was observed in 61%, and BCL2 expression in 55%, of WR DLBCLs. BCL2, BCL6, IRF4 and MYC breakpoints were observed in, respectively, 3 of 42 (7%), 9 of 36 (25%), 2 of 26 (8%) and 4 of 40 (10%) contributive cases. A variable follicular pattern was evidenced in 30 of 68 (44%) large biopsy specimens. The 5-year progression-free survival (PFS) and the overall survival (OS) of 153 WR DLBCL patients with survival information were 69.5% and 77.8%, respectively. The GCB immunophenotype correlated with a better OS (P = 0.0015), while BCL2 expression predicted a worse OS (P = 0.037), an effect overcome by the GCB/non-GCB classification. Compared with matched nodal DLBCLs, WR DLBCLs with no age-adjusted international prognostic index factor disclosed a better 5-year PFS rate (77.5% versus 70.7%; P = 0.03). CONCLUSIONS: WR DLBCLs display distinct clinicopathologic features compared with conventional DLBCLs, with usual localized-stage disease, common follicular features and a high frequency of GCB immunophenotype contrasting with a low rate of BCL2 rearrangements. In addition, they seem to be associated with a better outcome than their nodal counterpart.