Sökning: "clinical phenotype"

Visar resultat 1 - 5 av 686 avhandlingar innehållade orden clinical phenotype.

  1. 1. Studies of ulcerative colitis with concomitant primary sclerosing cholangitis : Beyond the clinical phenotype

    Författare :Johan Vessby; Marie Carlson; Maria Lampinen; Mikael Åberg; Fredrik Rorsman; Björn Lindkvist; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; IBD; PSC; ulcerative colitis; PSC-UC; immunology; eosinophils; T cells; tissue factor; proteomics; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Inflammatory bowel disease (IBD) is a group of chronically relapsing immune-related disorders, engaging the gastrointestinal tract. Symptoms vary depending on inflammatory phenotype, but may include diarrhoea, bowel pain and weight loss. The two most common entities are Crohn's disease and ulcerative colitis (UC). LÄS MER

  3. 2. Two Types of Fibrils in ATTR Amyloidosis : Implications for Clinical Phenotype and Treatment Outcome

    Författare :Elisabet Ihse; Per Westermark; Per Hammarström; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; amyloid; transthyretin; familial amyloidotic polyneuropathy; TTRV30M; non-TTRV30M; wild-type; liver transplantation; cardiomyopathy; fibril composition; Biokemi; Biochemistry; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi; Experimentell patologi; Experimental Pathology; Medical Biochemistry; Medicinsk biokemi; Molecular Biology; Molekylärbiologi; Pathology; Patologi;

    Sammanfattning : Systemic amyloidoses are a group of lethal diseases where proteins aggregate into fibrillar structures, called amyloid fibrils, that deposits throughout the body. Transthyretin (TTR) causes one type of amyloidosis, in which the aggregates mainly infiltrate nervous and cardiac tissue. LÄS MER

  4. 3. Applications of human skin in vitro

    Författare :Susanna Lönnqvist; Gunnar Kratz; Magnus Berggren; Jyrki Vuola; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES;

    Sammanfattning : Chronic wounds are a substantial problem in today’s health care and place significant strains on the patient. Successful modelling of the wound healing process is pivotal for the advancement of wound treatment research. Wound healing is a dynamic and multifactorial process involving all constituents of the skin. LÄS MER

  5. 4. Genetic investigations of four neurological disorders : From phenotype to mutation

    Författare :Anna Sillén; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

    Sammanfattning : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. LÄS MER

  7. 5. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes

    Författare :Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Long QT Syndrome; Jervell and Lange-Nielsen Syndrome; inherited arrhythmia; founder effects; clinical genetics; haplotype analysis; mutation age; founder mutation; clinical phenotype; life-threatening cardiac events; mutation-specific; KCNQ1 gene; modifier genes; sequence variants; risk stratification; risk factor; gender; pediatrik; Pediatrics;

    Sammanfattning : Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p. LÄS MER