Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands

Background: Genetic studies of salivary gland neoplasms were mainly focused on chromosomal changes, and some specific patterns of chromosome translocations have been described. However, molecular alterations, in particular the role of HER-2/H-ras/c-myc signalling cascade in pleomorphic adenoma pathogenesis (PA), are less well characterized. In addition, data on single nucleotide polymorphisms (SNPs) as potential susceptibility factors for PA development are also quite scarce. Methods: Mutational analyses were performed by means of real-time PCR (HER-2 and c-myc amplification analysis), PCR-SSCP and sequencing (H-ras point mutation detection). Polymorphisms analysis was performed by PCR-RFLP (survivin and MMP-9 genes). Results: Amplification of HER-2 and c-myc has been found in 13% and 9% of PA cases respectively. Point mutations in H-ras codons 12/13 have been detected in 17% of PAs. No correlation could be established between these alterations and clinical characteristics of PAs, whereas they might play a role in a subset of malignant salivary gland tumours. As for survivin -31 G/C polymorphism, C allele carriers had a 4-fold decrease of the risk of developing PA (p=0.05). Carriers of the variant allele T of the -1562C/T SNP in MMP-9 gene had a 4-fold increase of the risk of developing PA (p LT 0.001). Conclusions: A longer follow-up of PA patients harbouring mutations could uncover a prognostic role of HER-2 and c-myc amplification as predictors of adenoma transformation into carcinoma. Both survivin and MMP-9 promoter polymorphisms represent susceptibility factors for the development of PAs in the Serbian population

Leder icke användarcentrerad systemutveckling till låg användbarhet?

Within system development users have rarely been involved or received much attention during the development. Most of the times, the primary focus within system development lies on insuring functionality, rather than making the system usable. The literature specifies that a non user-centered approach can contribute to a product with low usability, which can lead to an ineffective and unsatisfactory experience for the end users. The purpose of this thesis is to begin an investigation to see if the use of non user-oriented system development methods is a possible cause of low usability in the final system. To achieve the purpose of this thesis, we have conducted a case study. Within the case study we examined the usability of a time reporting system. The case study included seven minor studies; an investigation concerning the development of the system, an expert evaluation of the system, interviews and observations of users, developed paper prototypes and executable prototypes, both which user testing was performed on. The result of this study shows that by working with user-entered methods, the usability in the time reporting system increased after the design had been revised. This study is therefore another example of that systems developed with user-centered system development methods have higher usability than systems developed not user-centered.Inom systemutveckling har användare sällan varit involverade eller fått större uppmärksamhet under utvecklingsarbetet. Fokus ligger ofta på att systemet ska ha en viss funktionalitet snarare än att det ska vara användbart. I litteraturen anges att brist på användarcentrering kan bidra till en produkt med låg användbarhet, vilket kan innebära en ineffektiv och otillfredsställande upplevelse för slutanvändarna. Syftet med denna uppsats är att påbörja en undersökning för att se om användandet av icke användarcentrerade systemutvecklingsmetoder är en möjlig orsak till låg användbarhet hos det färdiga systemet. För att uppnå syftet med denna uppsats har vi utfört en fallstudie. Denna fallstudie innebar att undersöka användbarheten i ett tidrapporteringssystem. Fallstudien innehöll sju delstudier; en undersökning av hur utvecklingen av systemet gick till, en expertutvärdering av systemet, intervjuer och observationer av användare, framarbetade pappersprototyper och en framarbetad klickbar prototyp vilka bägge det utfördes användartester på. Resultatet av denna studie visar att användbarheten i tidrapporteringssystemet ökade efter att designen blivit omarbetad med hjälp av användarcentrerade metoder. Denna studie är därför ännu ett exempel på att system utvecklade med användarcentrerade systemutveckling-smetoder har högre användbarhet än system utvecklade icke användarcentrerat