Sökning: "rare diseases"
Visar resultat 16 - 20 av 210 avhandlingar innehållade orden rare diseases.
16. New Diagnostic and Therapeutic Approaches in Adrenocortical Cancer
Sammanfattning : Adrenocortical cancer (ACC) is a rare disease that is often difficult to diagnose, and therefore often presents at an advanced stage. Various cytotoxic treatments have been tried with little success. Evaluation of new diagnostic methods and improvement of medical therapies are therefore crucial. LÄS MER
17. In vitro Studies of Genodermatoses Affecting Cytoskeletal Integrity and Lipid Processing in Human Epidermis : Pathogenic Mechanisms and Effects of Retinoid Therapy
Sammanfattning : Autosomal dominant epidermolytic ichthyosis (EI) is a rare disease characterized by intra-epidermal blistering due to mutations in either of two keratin genes, KRT1 and KRT10, expressed by suprabasal keratinocytes. Autosomal recessive congenital ichthyosis (ARCI) is a non-blistering, hyperkeratotic disease caused by mutations in one of the following genes: ABCA12, ALOX12B, ALOXE3, TGM1, CYP4F22, NIPAL4 and SLC27A4, which are all essential for skin barrier homeostasis. LÄS MER
18. Congenital Recessive Ichthyosis : Studies of Gene Expressions Related to Keratinocyte Differentiation and Skin Barrier Repair
Sammanfattning : Autosomal recessive congenital ichthyosis (ARCI) is a rare monogenetic disorder characterized by a defective skin barrier, hyperkeratosis, and dry, scaly skin. It affects keratinocyte differentiation and is caused by mutations in any of at least 12 genes believed to control the formation of ω-O-acylceramide and the corneocyte lipid envelope (CLE): ABCA12, ALOXE3, ALOX12B, CERS3, CYP4F22, ELOVL4, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, and TGM1. LÄS MER
19. Chemical and Clinical Studies of Isocyanate Contact Allergy with focus on diphenylmethane diisocyanate
Sammanfattning : Isocyanates are highly reactive compounds used in the production of polyurethane. Exposure to isocyanates is mainly associated with respiratory disorders, but may also result in allergic contact dermatitis. Reports describing contact allergy to isocyanates are few in number and it has been considered a rare phenomenon. LÄS MER
20. Epidemiology, diagnostics and treatment of non-melanoma skin cancers
Sammanfattning : Skin cancer, including malignant melanoma and non-melanoma skin cancer (NMSC), is a growing problem due to the increasing incidence in Sweden and in other Caucasian populations. NMSCs are diagnosed as often as all other cancers combined and include basal cell carcinoma (BCC), squamous cell carcinoma (SCC), precursors to SCC such as Bowen’s disease (BD) and actinic keratosis (AK), as well as several rare skin cancers including Merkel cell carcinoma (MCC). LÄS MER