Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

Purpose: Wolfram syndrome is a degenerative, recessive rare disease with an onset in childhood. It is caused by mutations in WFS1 or CISD2 genes. More than 200 different variations in WFS1 have been described in patients with Wolfram syndrome, which complicates the establishment of clear genotype-phenotype correlation. The purpose of this study was to elucidate the role of WFS1 mutations and update the natural history of the disease. Methods: This study analyzed clinical and genetic data of 412 patients with Wolfram syndrome published in the last 15 years. Results: (i) 15% of published patients do not fulfill the current ­inclusion criterion; (ii) genotypic prevalence differences may exist among countries; (iii) diabetes mellitus and optic atrophy might not be the first two clinical features in some patients; (iv) mutations are nonuniformly distributed in WFS1; (v) age at onset of diabetes mellitus, hearing defects, and diabetes insipidus may depend on the patient"s genotypic class; and (vi) disease progression rate might depend on genotypic class. Conclusion: New genotype-phenotype correlations were established, disease progression rate for the general population and for the genotypic classes has been calculated, and new diagnostic criteria have been proposed. The conclusions raised could be important for patient management and counseling as well as for the development of treatments for Wolfram syndrome

Rapid Influenza Testing in Infants and Children Younger than 6 Years in Primary Care : Impact on Antibiotic Treatment and Use of Health Services

This study was partially financed by an unrestricted grant from AstraZeneca Pharmaceutical Spain. The funders had no role in the study design, data col-lection and analysis, decision to publish or preparation of the manuscript.Influenza is often misdiagnosed in children because of the low sensitivity of clinical diagnosis because of nonspecific signs and symptoms. This can be overcome by using digital immunoassays or rapid molecular diagnostic tests with adequate sensitivity and specificity. When using these tests at the patient care site, antibiotic consumption and number of healthcare consultations were reduced

Islamic encounters in consumption and marketing

In recent years, Islam has become highly visible in media, politics, and the marketplace. The increasing popular and academic attention to Islam is partly driven by the events of 9/11 and the related imperative to ‘‘better’’ understand Muslims. The interest is also stimulated by broader socioeconomic developments, in particular neoliberal transformation and the so-called Islamic resurgence. Beginning in the late 1970s and accelerating in the 1980s and 1990s, Islamization has become a major social and political force impacting the Muslim world and beyond. Studies conducted in various fields of social sciences discussed the rise of Islamist movements and the spread of political Islam in connection to globalization and as an expression of resistance to Western-style modernization and secular modernity (e.g. Comaroff and Comaroff, 2000; Dekmejian, 1995; Esposito, 1998). For example, in his influential book, Globalized Islam , Olivier Roy (2004) linked the rise of contemporary Islamism to cultural disruptions and dislocations of a globalizing world, which made people, uprooted from their original cultures, susceptible to ‘‘fundamentalist’’ forms of Isla

Reactogenicity and immunogenicity profile of a two-dose combined hepatitis A and B vaccine in 1-11-year-old children

This study was conducted to compare the reactogenicity, immunogenicity and safety of a combined two-dose (0, 6 months) hepatitis A and B vaccine (720ELU HAV, 20 mcg HBsAg) with the established three-dose (0, 1 and 6 months) hepatitis A and B vaccine (360ELU HAV, 10 mcg HBsAg). A total of 511 children aged 1-11 years who had not previously received a hepatitis A or B vaccine were enrolled in the study. Both vaccines were well tolerated, and were shown to be safe and immunogenic. The analysis, stratified according to two age groups (1-5 year and 6-11-year-old children) demonstrated that the reactogenicity profile of the two-dose schedule was at least as good as that of the established schedule. Both vaccines and schedules provided at least 98% seroprotection against hepatitis B and 100% seroconversion against hepatitis A, 1 month after the end of the vaccination course (Month 7)