Sökning: "Neurological disorders"

Visar resultat 16 - 20 av 179 avhandlingar innehållade orden Neurological disorders.

  1. 16. Genetic studies of neurological disorders : Rett syndrome and HD-like familial prion disease

    Författare :Fengqing Xiang; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Huntington s disease HD ; MECP2 gene; mutation; linkage analysis; prion disease; prion protein PrP ; Rett syndrome RTT ; X-chromosome inactivation XCI .;

    Sammanfattning : Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder, which almost exclusively affects females with a prevalence of 1 in 10 000-15 000, >99% of the cases are sporadic. It is commonly thought of as an X-linked dominant disorder lethal to males. LÄS MER

  3. 17. Disorders of the cerebral white matter in children

    Författare :Ragnhildur Kristjánsdóttir; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; leukoencephalopathy - children - neurological impairments - magnetic resonance imaging - ophthalmology - visual evoked potentials - cerebrospinal fluid - sulfatide - glial fibrillary acidic protein - gangliosides - neurofilament - tau protein - monoamine metabolites;

    Sammanfattning : The aims of this thesis were to describe the clinical spectrum in a large group of children characterised as having an abnormal magnetic resonance imaging (MRI) signal from cerebral white matter (WM) and to study the radiological, clinical and ophthalmological features in that subgroup where aetiology was unknown. We also wanted to look at biochemical markers in the cerebrospinal fluid (CSF) to elucidate pathological processes which were responsible for the WM abnormalities. LÄS MER

  4. 18. Characteristics of the functional independence measure in patients with neurological disorders. Measurement through Rasch analysis

    Författare :Åsa Lundgren Nilsson; Göteborgs universitet; []
    Nyckelord :rehabilitation; assessment; measurement; stroke; traumatic brain injury; spinal cord injury; Rasch; item response theory;

    Sammanfattning : The Functional Independence Measure (FIMTM) is an internationally widely used outcome measure, measuring disability in terms of dependence or need of assistance. The aim of this study was to evaluate the structural characteristics of FIMTM using the Rasch model, with regard to scoring function, cross-cultural validity in Europe and cross-diagnostic validity within rehabilitation units in Scandinavia. LÄS MER

  5. 19. Neurochemical and neuroendocrine reactions during non-neurological surgery

    Författare :Rolf Anckarsäter; Göteborgs universitet; []
    Nyckelord :albumin; beta-2-microglobulin; blood brain barrier; cerebrospinal fluid; infammation; spinal anesthesia; stress;

    Sammanfattning : Abstract Objective: To study changes in serum and cerebrospinal fluid (CSF) proteins, monoamine metabolites and hormones during non-neurological surgery. Subjects and methods: Thirty-five patients without neurological or psychiatric disorders undergoing knee replacements had CSF and serum samples drawn from spinal and arterial catheters before, three hours after and on the morning after surgery. LÄS MER

  7. 20. Identification of disease genes in rare neurological conditions

    Författare :Martin Engvall; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : This thesis is about improving diagnosis and treatment to persons affected by rare diseases. Diagnosis before treatment is a principle often told to medical students. LÄS MER