986 resultados para FAMILIAL ALS


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Background Abnormalities in the neural representation of rewarding and aversive stimuli have been well-described in patients with acute depression, and we previously found abnormal neural responses to rewarding and aversive sight and taste stimuli in recovered depressed patients. The aim of the present study was to determine whether similar abnormalities might be present in young people at increased familial risk of depression but with no personal history of mood disorder. Methods We therefore used functional magnetic resonance imaging to examine the neural responses to pleasant and aversive sights and tastes in 25 young people (16–21 years of age) with a biological parent with depression and 25 age- and gender-matched control subjects. Results We found that, relative to the control subjects, participants with a parental history of depression showed diminished responses in the orbitofrontal cortex to rewarding stimuli, whereas activations to aversive stimuli were increased in the lateral orbitofrontal cortex and insula. In anterior cingulate cortex the at-risk group showed blunted neural responses to both rewarding and aversive stimuli. Conclusions Our findings suggest that young people at increased familial risk of depression have altered neural representation of reward and punishment, particularly in cortical regions linked to the use of positive and negative feedback to guide adaptive behavior.

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In recent years, the importance of the corporate brand (e.g. P&G, Nestlé, Unilever) has grown significantly and companies increasingly strive to strengthen their corporate brand. One way to strengthen the corporate brand is portfolio advertisement, in which the corporate brand is presented alongside with several product brands of its portfolio (e.g. VW with its product brands Touareg, Touran, Golf and Polo). The aim of portfolio advertising is to generate a positive image spill-over effect from the product brands onto the corporate brand in order to enhance the consumers’ perceived competence of the corporate brand. In four experimental settings Christian Boris Brunner demonstrates the great potential of portfolio advertising and highlights the risks associated with portfolio advertising in practice. In a first experiment, he compares portfolio advertising with single brand advertisements. Moreover, in case of portfolio advertising he manipulates the fit between the product brands, because the consumer has to establish a logical coherence between the individual brands. However, asconsumers have limited capacity for processing information, special attention should be paid to the number of product brands and to the processing depth of the consumer during confrontation with portfolio advertising. These key factors are taken into consideration in a second extensive experiment involving fictitious corporate and product brands. The effects of portfolio advertising on a product brand are also examined. Furthermore, the strength of product brands, i.e. brand knowledge as well as brand image and consumer’s knowledge of the brands, must be taken into consideration. In a third experiment, both the brand strength of real product brands as well as the fit between product brands are manipulated. Portfolio advertising could also have a positive image spill-over effect when companies introduce a new product brand under the umbrella of the corporate brand while communicating all product brands together. Based on considerations, in a fourth experiment, Christian Boris Brunner shows that portfolio advertising could also have a positive image spill-over effect on a new (unknown) product brand. Concluding his work, Christian Boris Brunner provides implications for future research concerning portfolio advertising as well as the management of a corporate brand in complex brand architectures. Concerning practical implications, these four experiments underline a high relevance to marketing and brand managers, who could increase corporate and product brands’ potential by means of portfolio advertising.

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Recently, Corpus Linguistics has become a popular research tool in the field of German as a Foreign Language. However, little attention has been paid to teaching and learning potentials that corpora and corpus-based teaching offer. This paper seeks to demonstrate some of the ways in which corpus-based techniques can be used for teaching purposes, even by those who have little experience in Corpus Linguistics. The focus will be on teaching and learning German for Academic Purposes in German Studies abroad.

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Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive end autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies. Clin Dysmorphol 18:67-77 (C) 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins.

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Familial idiopathic basal ganglia calcification, also known as ""Fahr`s disease"" (FD), is a neuropsychiatric disorder with autosomal dominant pattern of inheritance and characterized by symmetric basal ganglia calcifications and, occasionally, other brain regions. Currently, there are three loci linked to this devastating disease. The first one (IBGC1) is located in 14q11.2-21.3 and the other two have been identified in 2q37 (IBGC2) and 8p21.1-q11.13 (IBGC3). Further studies identified a heterozygous variation (rs36060072) which consists in the change of the cytosine to guanine located at MGEA6/CTAGE5 gene, present in all of the affected large American family linked to IBGC1. This missense substitution, which induces changes of a proline to alanine at the 521 position (P521A), in a proline-rich and highly conserved protein domain was considered a rare variation, with a minor allele frequency (MAF) of 0.0058 at the US population. Considering that the population frequency of a given variation is an indirect indicative of potential pathogenicity, we screened 200 chromosomes in a random control set of Brazilian samples and in two nuclear families, comparing with our previous analysis in a US population. In addition, we accomplished analyses through bioinformatics programs to predict the pathogenicity of such variation. Our genetic screen found no P521A carriers. Polling these data together with the previous study in the USA, we have now a MAF of 0.0036, showing that this mutation is very rare. On the other hand, the bioinformatics analysis provided conflicting findings. There are currently various candidate genes and loci that could be involved with the underlying molecular basis of FD etiology, and other groups suggested the possible role played by genes in 2q37, related to calcium metabolism, and at chromosome 8 (NRG1 and SNTG1). Additional mutagenesis and in vivo studies are necessary to confirm the pathogenicity for variation in the P521A MGEA6.

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Amyotrofisk Lateral Skleros, ALS, är en neurologisk sjukdom vilken leder till att samtliga kroppens muskler förtvinas och dör. Då sjukdomen saknar bot blir all behandling symptomatisk och individuellt anpassad för varje enskild persons behov. I denna systematiska litteraturstudie har det sökts efter olika sätt att stötta denna patientgrupp då syftet att belysa hur vi som personal kan hjälpa och stötta personer med ALS relaterad dysfagi och andningsproblem till en så bra tillvaro som möjligt skulle belysas.Författarna har funnit att omvårdnaden sällan sätts i fokus. Det är istället de lösningar som tar bort symtomet som fått fokus i flertalet av de artiklar som granskats. Att hjälpa dessa personer till trygga och oberoende människor som kan fortsätta att leva istället för som många av artiklarna visade då det gjordes insatser som ledde till att personerna blev mer bundna till sina anhöriga och sina vårdare.

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Syfte: Syftet med litteraturöversikten var att sammanställa aktuell forskning som beskriver hur det är att leva med Amyotrofisk Lateral Skleros (ALS). Metod: Vetenskapliga artiklar söktes i databaserna CINAHL och PubMed. Tolv artiklar med kvalitativ ansats valdes ut och kvalitetsgranskades enligt granskningsmall för kvalitativa studier. Huvudresultat: Resultatet visade att de som drabbades av ALS, en obotlig sjukdom, och deras närstående utsattes för stora psykologiska påfrestningar. Det fanns en rädsla och oro över att förlora kroppsfunktioner utan förvarning och detta medförde att patienter med ALS kände sig som fångar i den egna kroppen. Självförtroende och självkänsla rubbades negativt och bidrog till stunder av isolering, uppgivenhet och frustration. För att hantera sin livssituation använde sig patienter med ALS av olika strategier och livsstilsförändringar för att underlätta och möjliggöra ett oberoende i vardagen. Känslor av skuld och skam över familjens lidande i samband med sjukdomen ALS kunde bli en börda att bära för patienter med ALS och dessa känslor kunde generera till ett ökat kontrollbehov av omgivningen. Patienter med ALS hade kvar en känsla av hopp inför framtiden. Slutsats: Litteraturöversikten kan öka förståelsen hos sjuksköterskan och de närstående hur det är att leva med sjukdomen ALS och därmed skapa bättre individuella förutsättningar för god omvårdnad och god omsorg för patienter med ALS.