Sökning: "inherited susceptibility"
Visar resultat 6 - 10 av 45 avhandlingar innehållade orden inherited susceptibility.
6. In vitro contracture testing for the diagnosis of malignant hyperthermia susceptibility
Sammanfattning : Malignant hyperthermia (MH) susceptibility is a rare inherited muscular disorder, which may cause a lethal increase in metabolism during anaesthesia with certain commonly used anaesthetic. Susceptible individuals are without any signs or symptoms. It is important to identify individuals at risk, since the MH reaction is preventable. LÄS MER
7. Clinical and genetic studies of three inherited skeletal disorders
Sammanfattning : Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. LÄS MER
8. Genetic studies of stroke in Northern Sweden
Sammanfattning : Stroke is a common disorder of later life with a complex etiology, including both environmental and genetic risk factors. The inherited predisposition is challenging to study due to the complexity of the stroke phenotype. LÄS MER
9. Genetics of pain : studies of migraine and pain insensitivity
Sammanfattning : Pain is a major public health issue throughout the world. Increased understanding of the different forms of pain and identification of susceptibility genes could contribute to improved treatments. LÄS MER
10. Genetic characterization of malignant melanoma and breast cancer
Sammanfattning : Malignant melanoma and breast cancer are common malignant diseases characterized by considerable heterogeneity with respect to genetics, histopathology, biology and clinical course. In breast cancer, two major susceptibility genes have been identified, BRCA1 and BRCA2, which account for a significant proportion of high-risk breast cancer families. LÄS MER