Sökning: "rare diseases"

Visar resultat 21 - 25 av 211 avhandlingar innehållade orden rare diseases.

  1. 21. Genomic screening and causes of rare disorders

    Författare :Malin Kvarnung; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Congenital disorders affect approximately 3-4% of all children and often cause chronic disabilities with significant impact on the lives of affected individuals and their families as well as on the health-care system. These disorders constitute a large and heterogeneous group of disorders with most of them being rare (prevalence ... LÄS MER

  3. 22. Identification of disease genes in rare neurological conditions

    Författare :Martin Engvall; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : This thesis is about improving diagnosis and treatment to persons affected by rare diseases. Diagnosis before treatment is a principle often told to medical students. LÄS MER

  4. 23. Mast cells and their progenitors in respiratory diseases : Understanding their connection to lung function and airway inflammation

    Författare :P. Abigail Alvarado-Vazquez; Jenny Hallgren; Arne Egesten; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mast cells; mast cell progenitors; pulmonary function test; allergic airway inflammation; experimental asthma model; Immunologi; Immunology;

    Sammanfattning : Mast cells are rare immune cells involved in allergic diseases, including asthma. These cells are derived from mast cell progenitors (MCps) that migrate to the peripheral tissues via the blood in response to allergic or non-allergic stimuli. LÄS MER

  5. 24. Genetic Studies of Immunological Diseases in Dogs and Humans

    Författare :Matteo Bianchi; Gerli Rosengren Pielberg; Marta Alarcón-Riquelme; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; complex disease; immunogenetics; autoimmunity; GWAS; NGS; canine model; dog; hypothyroidism; Addison s disease; IFNA; BACH2; Medical Genetics; Medicinsk genetik;

    Sammanfattning : This thesis presents genetic studies aiming at enlarging our knowledge regarding the genetic factors underlying two immune-mediated diseases, hypothyroidism and autoimmune Addison’s disease (AAD), in dogs and humans, respectively.Genetic and environmental factors are indicated to contribute to canine hypothyroidism, which can be considered a model for human Hashimoto’s thyroiditis (HT). LÄS MER

  7. 25. Clinical and experimental studies of organ-specific autoimmune diseases : With special reference to Addison's disease and autoimmune hepatitis : by Gennet Gebre-Medhin

    Författare :Gennet Gebre-Medhin; Uppsala universitet; []
    Nyckelord :Medical sciences; Addison s Disease; replacement therapy; DHEA; autoimmune hepatitis; APS I; autoantigen; cytochrome P4501A2; aromatic L-amino acid decarboxylase; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

    Sammanfattning : Organ-specific autoimmunity constitutes a large health problem, where both the clinical management and our understanding of the pathogenetic mechanisms need to improve. Women with Addison's disease have abnormally low levels of dehydroepiandrosterone (DHEA), its sulphate ester (DHEA-S) and androgens relative to age, and many patients complain of physical and mental fatigue and low stress tolerance. LÄS MER