Search for dissertations about: "complete penetrance"

Showing result 1 - 5 of 6 swedish dissertations containing the words complete penetrance.

  2. 1. Amyotrophic lateral sclerosis (ALS) associated with superoxide dismutase 1 (SOD1) mutations in British Columbia, Canada : clinical, neurophysiological and neuropathological features

    Author : Heather G. Stewart; Hiroshi Mitsumoto; Umeå universitet; []
    Keywords : ALS; SOD1; complete penetrance; incomplete penetrance; mis-diagnosis; upper motor neuron; clinical neurophysiology; transcranial magnetic stimulation; peristimulus time histogram; corticospinal pathway; cortical inhibition; cortical hyper-excitability;

    Abstract : Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons and their supporting cells in the brain, brainstem and spinal cord, resulting in muscle paresis and paralysis including the bulbar (speech, chewing, swallowing) and respiratory muscles. The average age at onset is 55 years, and death due to respiratory failure occurs 2-5 years after symptom onset in ~ 85% of cases. READ MORE

  4. 2. Hereditary breast and ovarian cancer in western Sweden with a special focus on BRCA1 3171ins5 mutation

    Author : Zakaria Einbeigi; Göteborgs universitet; []
    Keywords : BRCA1 gene; breast neoplasm; ovarian neoplasm; hereditary; haplotype;

    Abstract : Aims: To describe the phenotype and geographic distribution of the western Swedish founder mutation BRCA1 3171ins5, evaluate the reliability of mutation analysis of this mutation on archival material, analyse the haplotype for founder effects in families with BRCA1 3171ins5 mutation, estimate the age of this mutation and evaluate whether the occurrence of both breast and ovarian cancers in the same women may be a marker of a BRCA gene mutation. Materials and methods: The first study was based on 16 families with BRCA1 3171ins5 mutation and the second study was based on 18 families with the same mutation. READ MORE

  5. 3. 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

  6. 4. Different genetic pathways involved in colorectal cancer

    Author : Sima Salahshor; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Colorectal cancer (CRC) is one of the three leading causes of cancer mortality worldwide with an incidence of approximately one million cases and a mortality of 500 000 annually. Identification of different pathways involved in tumorigenesis of both familial and sporadic colorectal cancer may led to a major breakthrough in the prevention of this potentially curable disease. READ MORE

  7. 5. Mitotic failure and genome stability in benign, premalignant and malignant human tissues

    Author : Rüdiger G Steinbeck; Karolinska Institutet; Karolinska Institutet; []
    Keywords : aneuploidy; CDF; clonal selection; DNA content; image microphotometry; interphase; microsection; nondisjunction; unbalanced telophase;

    Abstract : Mitotic failure may occur throughout the human lifespan. Individual nuclear mistakes will escape detection within the mass of somatic cells. The probability of nondetection increases with progression in development. READ MORE