AIM:To analyze the metallochaperone antioxidant-1 (Atox1) gene sequence in Wilson disease patients. METHODS:Mutation analysis of the four exons of the Atox1 gene including the intron-exon boundaries was performed in 63 Wilson disease patients by direct sequencing. RESULTS:From 63 selected patients no mutations were identified after the entire coding region including the intron-exon boundaries of Atox1 were sequenced. One known polymorphism within the Atox1 gene (5'UTR -99 T>C) in 31 (49%) of the Wilson patients as well as one previously undescribed variation (5'UTR -68 C>T) in 2 of the Wilson patients could be detected. Statistical analyses revealed that the existence of a variation within the Atox1-gene showed a tendency towards an earlier onset of the disease. CONCLUSION:Based on the data of this study, no major role can be attributed to Atox1 in the pathophysiology or clinical variation of Wilson disease.

Subjective evaluations are nowadays applied more commonly in cosmetic product assessment. They are used in quality control, product development steps and efficacy studies for claim support. Several studies have been published to determine the adequate number of panelists, but recommendations and guidelines dealing with this topic are rare in the cosmetic sector. The aim of the present pilot study was to recommend a suitable study plan and define the adequate consumer panel size for cosmetic consumer assessment. A questionnaire-based product evaluation study, with three different cosmetic products, was organized as a consumer test using a seven-point scale. As a last step, a specific statistical calculation was performed to define the minimum sample size. It showed that the minimum sample size, besides the obvious statistical parameters of standard deviation and confidence interval, also depends on age and gender of the panelists and product assessment item. Utilizing a CI of 95% a minimum of 60 panelists seems to be sufficient for home-use-test (HUT) with a given seven-point scale. A minimum of 101 panelists are shown to be sufficient utilizing a CI of 99%.

Epidermal barrier dysfunction can lead to xerotic skin and promote skin disorders like atopic dermatitis. Atopic skin is characterized by reduced water-retaining compounds, altered lipid composition and elevated skin pH. Against this background, a study was conducted to investigate the impact of a specific skin care product on epidermal barrier function in dry and atopic-prone skin. A marketed pH 4.5 cosmetic formulation containing 10% urea and specific plant oils was evaluated on 25 subjects with dry and atopic-prone skin. Measurements of skin hydration, pH, and barrier function were performed before and after 3 weeks of product usage. Additionally, visual scoring and stratum corneum lipid analysis using electron microscopy were conducted to investigate lipid composition. An improved skin hydration compared to the untreated area and a tendency to decrease the baseline elevated skin surface pH were observed. The visual scoring showed reduced dryness, roughness, and tension through the application. Furthermore, the stratum corneum lipid matrix was improved in terms of lipid content and organization. The combination of an acidic product’s pH, a relevant urea content and effective plant oils is shown to be beneficial in terms of improving the skin barrier function, structure and appearance and is recommended for dry and atopic-prone skin.

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