Search for dissertations about: "Hereditary"

Showing result 1 - 5 of 279 swedish dissertations containing the word Hereditary.

  2. 1. Hereditary ichthyosis : Causes, Skin Manifestations, Treatments and Quality of Life

    Author : Agneta Gånemo; Åke Svensson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Dermatology and venereology; Ichthyosis; congenital ichthyosis; genodermatoses; skin disease; quality of life; topical treatment; lactic acid; propylene glycol; Dermatologi och venerologi; Dermatology and venerology; Dermatologi och venerologi; Dermatology and Venerology; dermatologi och venereologi;

    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

  4. 2. Familial and Hereditary Prostate Cancer

    Author : Ola Bratt; Urologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; nephrology; Urology; screening; risk perception; hereditary; androgen receptor; genetics; Prostate cancer; epidemiology; Urologi; nefrologi;

    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

  5. 3. Living with deteriorating and hereditary disease : experiences over ten years of persons with muscular dystrophy and their next of kin

    Author : Katrin Boström; Gerd Ahlström; Berth Danermark; Anders Möller; Örebro universitet; []
    Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Social sciences; muscular dystrophy; chronic disease; ten year follow up; next of kin; ICF; activity; sickness impact; hereditary aspects; illness related problems; quality of life; multimethod; content analysis; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; Disability research; Handikappsforskning; Handikappvetenskap; Disability Science;

    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

  6. 4. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy

    Author : Nina Norgren; Ole Suhr; Alda Sousa; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary transthyretin amyloidosis; Familial amyloid polyneuropathy; transthyretin; genealogy; founder effect; miRNA; allele-specific expression; gene expression; liver; medicin; Medicine;

    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

  7. 5. Hereditary breast and ovarian cancer in western Sweden with a special focus on BRCA1 3171ins5 mutation

    Author : Zakaria Einbeigi; Göteborgs universitet; []
    Keywords : BRCA1 gene; breast neoplasm; ovarian neoplasm; hereditary; haplotype;

    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