Search for dissertations about: "hereditary"
Showing result 1 - 5 of 278 swedish dissertations containing the word hereditary.
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1. Hereditary ichthyosis : Causes, Skin Manifestations, Treatments and Quality of Life
Abstract : Hereditary ichthyosis is a collective name for many dry and scaly skin disorders ranging in frequency from common to very rare. The main groups are autosomal recessive lamellar ichthyosis, autosomal dominant epidermolytic hyperkeratosis and ichthyosis vulgaris, and x-linked recessive ichthyosis. READ MORE
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2. Familial and Hereditary Prostate Cancer
Abstract : This thesis is based on research concerning epidemiological, clinical, and psychological aspects of familial and hereditary prostate cancer. Epidemiology: Male first-degree relatives of prostate cancer patients had a three-fold increased prostate cancer risk. READ MORE
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3. Living with deteriorating and hereditary disease : experiences over ten years of persons with muscular dystrophy and their next of kin
Abstract : The overall aim of this thesis was to elucidate haw persona with muscular dystrophy (MD) and their next of kin experience and describe their daily lives over the last ten years. MD is a group of inherited disorders characterised by muscular weakness caused by muscle wasting. Both qualitative and quantitative methods were used. READ MORE
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4. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy
Abstract : Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. READ MORE
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5. Hereditary breast and ovarian cancer in western Sweden with a special focus on BRCA1 3171ins5 mutation
Abstract : Aims: To describe the phenotype and geographic distribution of the western Swedish founder mutation BRCA1 3171ins5, evaluate the reliability of mutation analysis of this mutation on archival material, analyse the haplotype for founder effects in families with BRCA1 3171ins5 mutation, estimate the age of this mutation and evaluate whether the occurrence of both breast and ovarian cancers in the same women may be a marker of a BRCA gene mutation. Materials and methods: The first study was based on 16 families with BRCA1 3171ins5 mutation and the second study was based on 18 families with the same mutation. READ MORE