Search for dissertations about: "familial correlations"

Showing result 1 - 5 of 20 swedish dissertations containing the words familial correlations.

  2. 1. Genetic studies of familial hemophagocytic lymphohistiocytosis

    Author : Kim Göransdotter Ericson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Familial hemophagocytic lymphohistiocytosis FHL ; PRF1 gene; MUNC13-4 gene; NK cells; cytotoxic T lymphocytes;

    Abstract : The main contribution from this thesis is a refined knowledge of locus heterogeneity in familial hernophagocytic lympbohistiocytosis (FHL) and a further characterization of corresponding clinical and immunological phenotypes. Familial hemophagocytic lymphohistiocytosis is a fatal autosomal recessive immune deficiency clinically characterized by fever, cytopenia, hepatosplenomegaly, and hemophagocytosis. READ MORE

  4. 2. Genetic and cellular studies of familial hemophagocytic lymphohistiocytosis

    Author : Eva Rudd; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Familial hemophagocytic lymphohistiocytosis; PRF1; STX11; UNC13D; degranulation; genotype; phenotype;

    Abstract : Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive and genetically heterogeneous disorder of immune dysregulation with an incidence of 1/50000 live births that is inevitably fatal without appropriate treatment. The disease is characterized by fever, hepatosplenomegaly, cytopenias, hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia and, sometimes, hemophagocytosis in bone marrow and/or other organs such as liver, spleen or lymph nodes. READ MORE

  5. 3. Idiopathic inflammatory myopathies and cancer : familial risk, genetics and consequences

    Author : Weng Ian Che; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Idiopathic inflammatory myopathies (IIMs) are a group of rare rheumatic inflammatory diseases (RIDs), characterised by a diverse range of clinical, serological and histopathological characteristics, with muscle weakness as a shared hallmark. While advancements in disease management have improved the survival rates of patients with IIM, the mortality rate among patients with IIM is still higher than the general population, mainly due to association with comorbidities such as cancer. READ MORE

  6. 4. Molecular studies in different types of melanoma tumors : correlations to clinical data

    Author : Abdlsattar Zebary; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Approximately 90% of melanomas arise from skin sites (known as cutaneous malignant melanoma; CMM), whereas the non-cutaneous melanoma (mucosal and ocular melanomas) are rare, accounting for about 10%. Familial melanoma accounts for up to 10% of patients diagnosed with CMM. Both genetics (e.g. READ MORE

  7. 5. Gastrointestinal disturbances in hereditary transthyretin amyloidosis

    Author : Jonas Wixner; Ole B Suhr; Intissar Anan; Pontus Karling; Anders Rönnblom; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Autonomic Nervous Systems; Cajal Interstitial Cells; Enteric Nervous System; Familial Amyloid Polyneuropathy; Functional Gastrointestinal Disorders; Gastric Emptying; Liver Transplantation; Nutrition Status; Transthyretin Amyloidosis; medicin; Medicine;

    Abstract : BackgroundTransthyretin amyloid (ATTR) amyloidosis is a systemic disorder caused by amyloid deposits formed by misfolded transthyretin (TTR) monomers. Two main forms exist – wild-type and hereditary ATTR amyloidosis, the latter associated with TTR gene mutations. READ MORE