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Visar resultat 1 - 5 av 6 avhandlingar som matchar ovanstående sökkriterier.

1. 1. Pteridine dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type 1

   Författare :Olov Ekwall; Uppsala universitet; []
   Nyckelord :Medical sciences; APS I; alopecia; autoantigen; cDNA; malabsorption; phenylalanine hydroxylase; pteridine; tryptophan hydroxylase; tyrosine hydroxylase; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

   Sammanfattning : Autoimmune polyendocrine syndrome type I (APS) is a monogenous, recessively inherited disease characterised by endocrine and non-endocrine autoimmune manifestations. One fifth of APS I patients suffer from periodic intestinal dysfunction with varying degrees of malabsorbtion, steatorrhea and constipation. LÄS MER

3. 2. Gastrointestinal involvement in familial amyloidosis with polyneuropathy : a clinical study

   Författare :Lars Steen; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; amyloidosis; electromyogram; malabsorption syndrome; gastric acid; gastroscopy; radioisotopes; radiography; intestinal mucosa;

   Sammanfattning : Familial Amyloidosis with Polyneuropathy was first recognized in Portugal and reported by Andrade in 1952. The disease is rare, but clustering of the patients has been reported from Portugal, Japan and northern Sweden. The gastrointestinal involvement in the Swedish form of the disease was studied in this investigation. LÄS MER

4. 3. Studies on the phenotype of LXRβ-/- mice : from malabsorption to amyotrophic lateral sclerosis

   Författare :Chiara Gabbi; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Liver X Receptors, LXRalpha and LXRbeta (NR1H2) are nuclear receptors belonging to the superfamily of ligand-activated transcription factors with a key role in the control of lipid and glucose metabolism. Studies of the phenotype of LXRalpha-/-mice and LXRbeta-/-mice have shown that these nuclear receptors have specific and distinct roles, although they share very high sequence homology (78%). LÄS MER

5. 4. Dietary patterns linked to symptoms in patients with a disorder of gut-brain interaction

   Författare :Esther Colomier; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disorders of gut-brain interaction; Irritable bowel syndrome; Diet;

   Sammanfattning : Disorders of gut-brain interaction (DGBI) encompass a range of medical conditions characterized by gastrointestinal (GI) symptoms, in the absence of alarm features or organic diseases that explain the symptoms, after a minimal relevant clinical evaluation. With a global prevalence of approximately 40%, DGBI exert a considerable impact on both patients and society as a whole. LÄS MER

7. 5. LXR and aromatase knock-out mice : animal models providing insight into human diseases

   Författare :Hyun-Jin Kim; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : In our characterization of mouse strains carrying mutations in nuclear receptor and aromatase genes we have found phenotypes which resemble four human diseases: benign prostatic hyperplasia (BPH), Sjögren s syndrome (SS), amyotrophic lateral sclerosis (ALS), and exocrine pancreatic insufficiency. The work in this thesis was designed to understand the roles of LXRalpha, LXRbeta and aromatase in development of these diseases and to investigate whether these animal models help us (1) to understand the etiology of the corresponding human diseases and (2) to develop new therapeutic approaches for the treatment of these diseases. LÄS MER