Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

BACKGROUND: Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that constitutes the most common genetic cause of renal failure in the first three decades of life. Using positional cloning, six genes (NPHP1-6) have been identified as mutated in NPHP. In Joubert syndrome (JBTS), NPHP may be associated with cerebellar vermis aplasia/hypoplasia, retinal degeneration and mental retardation. In Senior-Løken syndrome (SLSN), NPHP is associated with retinal degeneration. Recently, mutations in NPHP6/CEP290 were identified as a new cause of JBTS. METHODS: Mutational analysis was performed on a worldwide cohort of 75 families with SLSN, 99 families with JBTS and 21 families with isolated nephronophthisis. RESULTS: Six novel and six known truncating mutations, one known missense mutation and one novel 3 bp pair in-frame deletion were identified in a total of seven families with JBTS, two families with SLSN and one family with isolated NPHP.

[Active and healthy living in old age--results from a representative survey of community-dwelling senior citizens in Hamburg]

BACKGROUND: The majority of community-dwelling people 60 years and older are independent and live actively. However, there is little information about elderly persons' views on aging, health and health promotion. METHODS: Therefore, an anonymous, written questionnaire survey was performed in a representative sample of inhabitants from a section of the city of Hamburg, 60 years and older; 5 year intervals, 14 subsamples according to 7 age groups of females and males. RESULTS: Questionnaires from 950 participants (29% response) could be evaluated: mean age 71.5 years, 58% women, 34% living alone, 5% with professional healthcare needs as indicated by status according to German nursing care insurance. Senior citizens' positive attitudes towards aging and health were predominant: 69% of respondents felt young, 85% worried about loss of autonomy in old age. CONCLUSIONS: The results provide evidence indicating potential for improving health-promoting lifestyles in parts of the older population by evaluating and strengthening older persons' competencies and by considering their concerns seriously. These results provide valuable information for future plans in the public-health sector in the city of Hamburg where particular health-promoting actions for elderly persons will be considered.

Quantifying entrepreneurship and its impact on local economic performance: A spatial assessment in rural Switzerland

Regional and rural development policies in Europe increasingly emphasize entrepreneurship to mobilize the endogenous economic potential of rural territories. This study develops a concept to quantify entrepreneurship as place-dependent local potential to examine its impact on the local economic performance of rural territories in Switzerland. The short-to-medium-term impact of entrepreneurship on the economic performance of 1706 rural municipalities in Switzerland is assessed by applying three spatial random effects models. Results suggest a generally positive relationship between entrepreneurship and local development: rural municipalities with higher entrepreneurial potential generally show higher business tax revenues per capita and a lower share of social welfare cases among the population, although the impact on local employment is less clear. The explanatory power of entrepreneurship in all three models, however, was only moderate. This finding suggests that political expectations of fostering entrepreneurship to boost endogenous rural development in the short-to-medium term should be damped.

Entrepreneurship in a Hub-and-Spoke Industrial District: Firm Survey Evidence from Seattle's Technology Industry

Mayer H. Entrepreneurship in a hub-and-spoke industrial district: firm survey evidence from Seattle's technology industry, Regional Studies. The paper investigates entrepreneurial dynamics in a hub-and-spoke industrial district. Using data on the genealogy of high-technology firms in Seattle, Washington State, the study examines the ways in which entrepreneurial firms relate to their parent firms and the role of agglomeration economies. The results illustrate that entrepreneurship is an important vehicle for the diversification of such a district. When compared, hub-related spinoffs such as those founded by former Microsoft employees do not differ much from other start-ups. The differences between Microsoft spinoffs and start-ups are very limited; both diversify the regional economy by entering new markets when compared with their parents.

Firm Building and Entrepreneurship in Second-Tier High-Tech Regions

This paper examines how a second-tier high-technology region leveraged corporate assets—mostly from transnational firms—in building a knowledge-based economy. The paper reviews how firm building and entrepreneurship influence the evolution of a peripheral regional economy. Using a case study of Boise, Idaho (the US), the research highlights several important sources of entrepreneurship. Entrepreneurial firm formation is closely linked with a region's ability to grow incubator organizations, particularly innovative firms. These innovative firms provide the training ground for entrepreneurs. Firms, however, differ and the ways in which firm building activities influence regional entrepreneurship depend on firm strategy and organization. Thus, second-tier high-tech regions in the US are taking a different path than their well-known counterparts such as Silicon Valley or Route 128 around Boston.