Sökning: "dubbel diagnos"

Hittade 3 avhandlingar innehållade orden dubbel diagnos.

  1. 1. Tumors associated with Hereditary Nonpolyposis Colorectal Cancer: Defective Mismatch Repair and Familial Risk of Cancer

    Författare :Kajsa Ericson Lindquist; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; oncology; cancerology; Cytologi; onkologi; cancer; Multiple Tumors; Hereditary Nonpolyposis Colorectal Cancer; Cytology; Cohort study; Population based; Familial Risk of Cancer; Immunohistochemistry; MSH2; MSH6; MLH1; Microsatellite Instability; Soft Tissue Sarcomas; Cancer of the Upper Urinary Tract; Cancer of the Small Intestine; Colorectal Cancer;

    Sammanfattning : Inactivation of the DNA mismatch repair (MMR) system is a tumorigenic mechanism involved in 15-20% of tumor types such as colorectal and endometrial cancer and is specifically associated with the Hereditary Nonpolyposis Colorectal Cancer (HNPCC) syndrome. These MMR defective tumors are characterized by microsatellite instability (MSI), a phenomenon that reflects alterations in length of repeated sequences, and 90% of MSI tumors show loss of immunohistochemical expression for the MMR protein affected. LÄS MER

  3. 2. Clinical expressions of juvenile hereditary retinal degenerations and macular dystrophies: Electrophysiological and genetic studies

    Författare :Louise Eksandh; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Oftalmologi; Ophtalmology; Rod-monochromacy; Stargardt disease; Juvenile X-linked retinoschisis; Spielmeyer-Vogt disease; Best disease; multifocal-ERG; EOG; full-field ERG; Phenotype; genotype;

    Sammanfattning : Hereditary retinal degenerations are the most frequent reason for severe visual handicap among young people in Scandinavia today. In the six papers included in this thesis the phenotypic expressions, with emphasis on the electrophysiological findings, of five different juvenile hereditary retinal degenerations are described. LÄS MER

  4. 3. Eczema in young children : aspects of clinical investigation and treatment

    Författare :Gunilla Norrman; Karin Fälth-Magnusson; Magnus Borres; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; allergy; eczema; skin tests; food allergy; food challenge; IgG4; IgE; elimination diet; SCORAD; children; infants; adolescents; Allergology; Allergologi;

    Sammanfattning : Bakgrund: Eksem förekommer hos 10-20% av barn i hela världen. En tredjedel av barnen med eksem har födoämnesallergi. Hos de flesta växer födoämnesallergin bort innan skolåldern. Förbättrat kliniskt omhändertagande och bättre förståelse av hur klinisk tolerans uppkommer är viktiga mål för forskning inom barnmedicin. LÄS MER