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

Archival data on wild food plants used in Poland in 1948

<p>Abstract</p> <p>Background</p> <p>In 1948, Professor Józef Gajek initiated a detailed census of the wild edible plants used in Poland. The questionnaires were collected by correspondents of the Polish Folklore Society in 95 localities throughout Poland. A major part of these archival materials, including a substantial collection of herbarium specimens, had not undergone thorough analysis prior to this study, which presents a quantitative analysis of this archival set of data.</p> <p>Methods</p> <p>Herbarium specimens were identified and a database was created.</p> <p>Results</p> <p>Ninety-eight taxa identified to genus or species level, including 71 botanical species, identified using herbarium specimens, were found. On average only 11 edible plant species per locality were listed, the longest list included 39 species. No correlation between latitude and the number of edible species was found, whereas there was small but significant correlation with the longitude. Fruits were the most frequently collected part of plants. Most plants were primarily collected by women and children. Children both helped parents to collect wild fruits and also ate many species raw, which were not consumed by adults, but had often been eaten in the past. Eighteen of the taxa had not been reported in a recent comprehensive review of edible plants of Poland. <it>Stratiotes aloides</it>, used as a famine vegetable in the Łódź region, has never been reported as edible in any ethnobotanical literature.</p> <p>Conclusion</p> <p>The results undermine the conclusions of a recent comprehensive review of edible plants of Poland, which stated that many more wild edible plants have been collected in the Carpathians than in lowland Poland. However such results were shown to be caused by the substantially larger number of ethnographic studies undertaken in the Carpathians. In fact, large numbers of edible plant species were collected in the mid-20^thcentury in a few regions, particularly along the eastern border, in the Carpathians and in communities originating from the expanded Soviet Union, which had been resettled to the north-west of Poland in 1945.</p

Factors contributing to attrition behavior in diabetes self-management programs: A mixed method approach

<p>Abstract</p> <p>Background</p> <p>Diabetes self-management education is a critical component in diabetes care. Despite worldwide efforts to develop efficacious DSME programs, high attrition rates are often reported in clinical practice. The objective of this study was to examine factors that may contribute to attrition behavior in diabetes self-management programs.</p> <p>Methods</p> <p>We conducted telephone interviews with individuals who had Type 2 diabetes (n = 267) and attended a diabetes education centre. Multivariable logistic regression was performed to identify factors associated with attrition behavior. Forty-four percent of participants (n = 118) withdrew prematurely from the program and were asked an open-ended question regarding their discontinuation of services. We used content analysis to code and generate themes, which were then organized under the Behavioral Model of Health Service Utilization.</p> <p>Results</p> <p>Working full and part-time, being over 65 years of age, having a regular primary care physician or fewer diabetes symptoms were contributing factors to attrition behaviour in our multivariable logistic regression. The most common reasons given by participants for attrition from the program were conflict between their work schedules and the centre's hours of operation, patients' confidence in their own knowledge and ability when managing their diabetes, apathy towards diabetes education, distance to the centre, forgetfulness, regular physician consultation, low perceived seriousness of diabetes, and lack of familiarity with the centre and its services. There was considerable overlap between our quantitative and qualitative results.</p> <p>Conclusion</p> <p>Reducing attrition behaviour requires a range of strategies targeted towards delivering convenient and accessible services, familiarizing individuals with these services, increasing communication between centres and their patients, and creating better partnerships between centres and primary care physicians.</p