Search for dissertations about: "deficiency"

Showing result 16 - 20 of 816 swedish dissertations containing the word deficiency.

  2. 16. Molecular genetic studies of three autosomal recessive disorders : Sjögren-Larsson syndrome, glutathione synthetase deficiency and congenital ichthyosis

    Author : Maritta Pigg; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Sjögren-Larsson syndrome; glutathione synthetase deficiency; congenital ichthyosis; linkage analysis; allelic association; mutation analysis; transglutaminase 1 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : Investigations at the DNA level were performed in order to characterise the molecular basis forthree genetic disorders:Sjögren-Larsson syndrome (SLS) is characterised by congenital ichthyosis and severeneurological symptoms. Linkage analysis and allelic association of 24 Swedish families affectedby SLS showed linkage between the disease and the marker D17S805 on chromosome 17. READ MORE

  4. 17. Prediction Models and Pharmacogenomics in Adult Growth Hormone Deficiency

    Author : Edna J L Barbosa; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; growth hormone deficiency; hypopituitarism; growth hormone replacement therapy; prediction models; candidate gene approach; polymorphisms; body composition; growth hormone receptor; lipid metabolism; extracellular water; pharmacogenomics;

    Abstract : The overall aim of this thesis was to study clinical and genetic factors that influence response to growth hormone replacement therapy (GHRT) in GH deficient (GHD) adults. The patients were part of a cohort of adults with hypopituitarism and severe GHD who were studied before and after 12 months of GHRT. READ MORE

  5. 18. Bone Healing after implantation of bone substitute materials. Experimental studies in estrogen deficiency

    Author : Sven Öberg; Jan Rosenquist; Ulf Lekholm; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Surgery; Bone grafts; hydroxyapatite; estrogen deficiency; demineralised bone; bone formation; AAA bone; bone defect; titanium implants; resonance frequency analysis.; Kirurgi; Surgery; Kirurgi; kirurgi; Surgery;

    Abstract : Bone formation and bone healing were studied in the mandible, tibia and skull bones in adult, healthy and estrogen deficient rabbits implanted with different bone substitutes.In the first study an evaluation of the differences in bone regeneration in and around solid (Alveograf *) and porous hydroxyapatite (Interpore 200*) was undertaken. READ MORE

  6. 19. Clinical and immunological aspects of IgG subclass deficiency : Predictors for the need of immunoglobulin replacement therapy

    Author : Per Wågström; Charlotte Dahle; Sofia N. Nyström; Åsa Nilsdotter-Augustinsson; Mats Nilsson; Ola Winqvist; Linköpings universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Immunoglobulin G subclass deficiency; inflammation; lymphocytes; fatigue; co-morbidity; immunoglobulin G replacement therapy;

    Abstract : Background: Predominantly antibody deficiencies (PAD) are inborn errors of immunity, and associate with increased susceptibility to infections. Life-long immunoglobulin replacement therapy (IgRT) is introduced based on Ig-levels and the frequencies and severity of infections. READ MORE

  7. 20. Genetic Studies in Dogs Implicate Novel Genes Involved in Atopic Dermatitis and IgA Deficiency

    Author : Katarina Tengvall; Kerstin Lindblad-Toh; Göran Andersson; Åke Hedhammar; Gerli Rosengren Pielberg; Ingrid Skelton Kockum; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; canine model; genetic association; immunogenetics; atopic dermatitis; IgA deficiency; Molekylär genetik; Molecular Genetics;

    Abstract : This thesis presents genetic studies of atopic dermatitis (AD) and IgA deficiency in dogs.AD is a chronic inflammatory and pruritic skin disorder caused by allergic reactions against environmental allergens. Both genetic and environmental factors are involved in the development of Canine AD (CAD) and human AD. READ MORE