Sökning: "hereditary aspects"

Visar resultat 16 - 20 av 37 avhandlingar innehållade orden hereditary aspects.

1. 16. Molecular aspects of parathyroid tumorigenesis : with focus on parafibromin and the Wnt pathway

   Författare :Christofer Juhlin; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Primary hyperparathyroidism (PHPT) denotes the tumorous enlargement of one or several parathyroid glands and constitutes a common disorder, particularly pronounced among postmenopausal women. PHPT patients display hypercalcemia as a consequence of parathyroid hormone hypersecretion, and the symptomatology is habitually based on this metabolic aberrancy. LÄS MER

3. 17. Cutaneous malignant melanoma aspects of prognostic factors and time : trends in a Swedish population

   Författare :Eva Månsson-Brahme; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Melanoma; incidence; prognostic factors; survival; mortality; trends; familial; prevention;

   Sammanfattning : One of the aims of this thesis was to assess the possible impact of primary and secondary preventive activities in the population of Stockholm-Gotland with the objective to reduce the incidence and mortality from cutaneous melanoma. Another aim was to investigate whether thin melanomas and hereditary melanomas represent separate biologic entities. LÄS MER

4. 18. Aspects on Immune Complex Handling and Complement Deficiency in Relation to Pathogenic Mechanisms in Systemic Lupus Erythematosus

   Författare :Cecilia Klint; Molekylär endokrinologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; serologi; Immunologi; transplantation; Immunology; serology;

   Sammanfattning : The autoimmune disease Systemic Lupus Erythematosus is associated with hereditary deficieny of early components from the classical pathway of complement activation, but not with deficiency of complement component C3 or of the alternative pathway components. The classical pathway is involved in elimination of pathological immune complexes from the circulation by transport via complement receptor type 1 (CR1). LÄS MER

5. 19. Mismatch Repair Deficient Cancer Diagnostic Aspects in Colorectal Cancer and the Role of Urological Cancer in Lynch Syndrome

   Författare :Patrick Joost; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mismatch repair; Lynch syndrome; immunohistochemistry; microsatellite instability; heterogeneity; cumulative incidence; colorectal cancer; urothelial cancer; prostate cancer; renal cell cancer;

   Sammanfattning : Mismatch repair (MMR) deficiency is carcinogenic and can either have somatic/sporadic causes (i.e. epigenetic silencing or somatic inactivation) or hereditary causes (Lynch syndrome due to a germline mutation in one of the MMR genes ¬- MLH1, MSH2, MSH6, PMS2). LÄS MER

7. 20. Pure red cell aplasia in Swedish children : clinical features, epidemiological and etiological aspects of transient erythroblastopenia of childhood and Diamond-Blackfan anemia

   Författare :Gunnar Skeppner; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Background: Anemia due to impaired erythropoiesis is a rare condition that is more common in children than in adults. Pure red cell aplasia (PRCA) is the term used to denote anemia due to failure of the bone marrow that affects only the erythropoietic cell line. PRCA exists in two forms only presented in children. LÄS MER