Search for dissertations about: "Ole Suhr"

Showing result 1 - 5 of 6 swedish dissertations containing the words Ole Suhr.

  2. 1. Methodological aspects and usefulness of Quantitative Sensory Testing in early small fiber polyneuropathy : a clinical study in Swedish hereditary transthyretin amyloidosis patients

    Author : Victoria Heldestad; Erik Nordh; Ole Suhr; Göran Solders; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyloidosis; cold thresholds; heart rate variability; method-of-limits; quantitative sensory testing; transthyretine; warm thresholds; Clinical Neurophysiology; klinisk neurofysiologi;

    Abstract : Generalised polyneuropathy (PNP) is a common cause to neurological impairment, and may be an early symptom of a severe systemic disease. One such illness is hereditary transthyretin (TTR) amyloidosis (ATTR), a progressive fatal disorder caused by a mutation on the TTR gene. READ MORE

  4. 2. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy

    Author : Nina Norgren; Ole Suhr; Alda Sousa; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary transthyretin amyloidosis; Familial amyloid polyneuropathy; transthyretin; genealogy; founder effect; miRNA; allele-specific expression; gene expression; liver; medicin; Medicine;

    Abstract : Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. READ MORE

  5. 3. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

    Author : Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Familial amyloid polyneuropathy; Amyloidosis; Transthyretin; Allele Frequency; Mitochondria; parent-of-origin; MicroRNA; Single Nucleotide Polymorphism; 3 Untranslated Regions genetics; Medical genetics; Medicinsk genetik; Clinical genetics; Klinisk genetik; genetik; Genetics; klinisk genetik; Clinical Genetics; medicin; Medicine;

    Abstract : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. READ MORE

  6. 4. The heart in hereditary transthyretin amyloidosis : clinical studies on the impact of amyloid fibril composition

    Author : Björn Pilebro; Ole Suhr; Henning Mölgaard; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyloidosis; Transthyretin; Cardiomyopathy; Echocardiography; Scintigraphy; Positron emission tomography; cardiovascular disease; hjärt- och kärlforskning; kardiologi; Cardiology; Clinical Physiology; klinisk fysiologi;

    Abstract : Background Hereditary transthyretin amyloid (ATTRm) amyloidosis is a systemic disease mainly affecting the peripheral nervous system and the heart. The disease is inherited in an autosomal dominant manner with a varying penetrance. It is caused by mutations in the transthyretin (TTR) gene. Today more than 100 disease causing mutations are known. READ MORE

  7. 5. Autoimmune hepatitis in Sweden

    Author : Mårten Werner; Åke Danielsson; Ole Suhr; Per Stål; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Autoimmune hepatitis; epidemiology; cirrhosis; prognosis; thiopurines; pregnancy; breast feeding; relapse; hepatocellular cancer; lymphoma; Gastroenterology; Gastroenterologi; medicin; Medicine;

    Abstract : Autoimmune hepatitis (AIH) was identified as an entity by the Swedish professor Jan Waldenström in the 1950s. It was then denoted lupoid hepatitis, characterized by liver inflammation and most often affecting young women. READ MORE