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The severity of lung disease in cystic fibrosis (CF) may be related to the type of mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and to environmental and immunological factors. Since pulmonary disease is the main determinant of morbidity and mortality in CF, it is important to identify factors that can explain and predict this variation. The aim of this longitudi

Malignant hyperthermia susceptibility is diagnosed using an in vitro contracture test (IVCT). In families in which the mutation is known, genetic tests are also available. The inheritance pattern is regarded as autosomal dominant, which predicts equal proportions of men and women affected. The aim of this study was to investigate whether there were sex differences in the diagnostic outcome of the

Future adaptation to changes in the environment depends on the existence of additive genetic variances within populations. Recently, considerable attention has also been given to the non-additive component, which plays an important role in inbreeding depression and bottleneck situations. In this study, I used data from a North Carolina II crossing experiment, analysed with restricted maximum-likel

Potato is one of the world's most widely grown tuber crop, in which starch is the predominant form of carbohydrates. Potatoes can be prepared in many ways: boiled, fried or roasted. Frying and roasting potatoes at high temperatures result in an appetizing crust, but at the same time acrylamide can form. In this study, the concentrations of the acrylamide precursors, asparagine and sugars, were det

Background: So far there are no studies comparing the attitudes of patients with hereditary conditions to the attitudes of the general public on how to handle genetic risk information which mutation carriers refuse to disclose to relevant family members. The purpose of the present study was to investigate whether such patients and members of the general public want to be informed about the existen

Little is known about the nature of post mortem degradation of proteins and peptides on a global level, the so-called degradome. This is especially true for non-neural tissues. Degradome properties in relation to sampling procedures on different tissues are of great importance for the studies of for instance post translational modifications and/or the establishment of clinical biobanks. Here, snap

Background. R-Limonene is a common fragrance terpene found in domestic and industrial products. R-Limonene autoxidizes on air exposure, and the oxidation products can cause contact allergy. In a recent multicentre study, 5.2% (range 2.3-12.1%) of 2900 patients showed a positive patch test reaction to oxidized R-limonene. Objective. To study the exposure to limonene among consecutive dermatitis pat

Background: Discoid lupus erythematosus (DLE) is restricted to the skin, mostly the face, often chronic and disfiguring. Standard medical therapies include topical corticosteroids and antimalarials. This is a retrospective long-term follow-up of refractory DLE treated with different lasers and intense pulsed light (IPL). Methods and materials : Sixteen patients with histologically confirmed DLE pa