Sökning: "Syndrome X"

Visar resultat 6 - 10 av 223 avhandlingar innehållade orden Syndrome X.

1. 6. Dentofacial morphology in Turner Syndrome karyotypes

   Författare :Sara Rizell; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; orthodontics; Turner syndrome; genetics; karyotype; geno-phanotype correlation; anthropometrics; craniofacial morphology; dental arch; dental crown width; enamel; primary teeth; elemental composition;

   Sammanfattning : The overall aim of this thesis was to study dentofacial morphology in Turner syndrome (TS) versus controls and the influence hereupon from karyotype. One hundred thirty two TS females (5-66 years of age), from Göteborg, Uppsala and Umeå were participating. LÄS MER

3. 7. Localization of five human genes by clinical and molecular genetic methods

   Författare :Mihailo Vujic; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Larsen syndrome; LRS1; Multiple hereditary exostoses; EXT2; Best macular dystrophy; VMD2; Noonan syndrome; NS3; Tripeptidyl peptidase-2; TPP2;

   Sammanfattning : Four of the research projects reported in this thesis start from the gene effects observed in clinical practice. Finding a disease causing gene is challenging, exciting and beneficial for the patient, the family and for the society. LÄS MER

4. 8. Molecular genetic studies of three autosomal recessive disorders : Sjögren-Larsson syndrome, glutathione synthetase deficiency and congenital ichthyosis

   Författare :Maritta Pigg; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Sjögren-Larsson syndrome; glutathione synthetase deficiency; congenital ichthyosis; linkage analysis; allelic association; mutation analysis; transglutaminase 1 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : Investigations at the DNA level were performed in order to characterise the molecular basis forthree genetic disorders:Sjögren-Larsson syndrome (SLS) is characterised by congenital ichthyosis and severeneurological symptoms. Linkage analysis and allelic association of 24 Swedish families affectedby SLS showed linkage between the disease and the marker D17S805 on chromosome 17. LÄS MER

5. 9. Pathogenetic mechanisms in irritable bowel syndrome

   Författare :Hans Törnblom; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Irritable bowel syndrome; functional gastrointestinal disorder; immunohistochemistry; full-thickness biopsy; enteric nervous system; autoantibody; gastroenteritis; risk factor;

   Sammanfattning : Aims of the thesis: To study new pathogenetic mechanisms in IBS; to find out if IBS is a neuromuscular disease affecting the small bowel; to study humoral factors in gut dysmotility associated with visceral neuropathy; and to study the natural history of post-infectious gastro-intestinal (GI) symptoms and risk factors for their development. Material and methods: In studies I and II, full-thickness jejunum biopsies from patients with severe IBS were investigated with immunohistochemistry. LÄS MER

7. 10. The role of oxidized LDL and inflammation in the metabolic syndrome, diabetes and atherosclerosis

   Författare :Vilborg Sigurdardottir; Göteborgs universitet; []
   Nyckelord :atherosclerosis; ultrasound; C-reactive protein; oxidized low-density lipoprotein; metabolic syndrome; type 2 diabetes; carotid artery; femoral artery; intima-media-thickness; plaque; echogenicity; risk factors;

   Sammanfattning : .... LÄS MER