Sökning: "hereditary"

Visar resultat 1 - 5 av 286 avhandlingar innehållade ordet hereditary.

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

   Författare :Agneta Gånemo; Åke Svensson; Uppsala universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

3. 2. Familial and Hereditary Prostate Cancer

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

   Sammanfattning : 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. LÄS MER

4. 3. Clinical Aspects of Hereditary Breast Cancer

   Författare :Niklas Loman; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer; Cytologi; onkologi; cancerology; oncology; Cytology; Age of onset; Survival analysis; Incidence; Male breast cancer; Steroid receptors; BRCA2; BRCA1; Breast cancer; hereditary;

   Sammanfattning : A positive family history of breast cancer (BC) is one of the strongest predictors of the disease. Two major BC susceptibility genes, BRCA1 and BRCA2 were identified about a decade ago. In this thesis, studies of different biological. clinical and epidemiological aspects of hereditary BC are presented. LÄS MER

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

   Författare :Katrin Boström; Gerd Ahlström; Berth Danermark; Anders Möller; Örebro universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

7. 5. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy

   Författare :Nina Norgren; Ole Suhr; Alda Sousa; Umeå universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER