Sökning: "slowly-progressive"

Visar resultat 1 - 5 av 20 avhandlingar innehållade ordet slowly-progressive.

  1. 1. Antigen-specific islet antibodies: prediction of beta cell failure and differentiation between Type 1 and Type 2 diabetes

    Författare :Henrik Borg; Malmö Institutionen för kliniska vetenskaper; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; diabetology; Endokrinologi; secreting systems; Endocrinology; seropositive; seronegative; slowly-progressive; Type 2; Type 1; classification; IA-2A; IA-2; GADA; GAD; ICA; islet antibodies; C-peptide; beta cell function; diabetes mellitus; adult-onset; sekretion; diabetologi;

    Sammanfattning : Autoantibodies against glutamic acid decarboxylase (GADA), protein tyrosine-phosphatase-like protein (IAÐ2A), and/or pancreatic islet cells (ICA) are autoimmune markers usually present at diagnosis of Type 1 diabetes. Type 1 diabetes is therefore in general believed to be caused by an immune-mediated beta cell destruction. LÄS MER

  3. 2. Phenotypes and genotypes in families with hereditary tapetoretinal degenerations

    Författare :Vesna Ponjavic; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; peripherin.; rhodopsin; cone-rod dystrophy; retinitis pigmentosa; choroideremia; central areolar choroidal dystrophy; mutation screening; full-field electroretinography; Phenotype; genotype; Ophtalmology; Oftalmologi;

    Sammanfattning : The purpose of the study was to characterise the phenotype with emphasis on electroretinography in four different types of hereditary retinal degeneration and to correlate it to a genotype when possible. Two methods were used: full-field electroretinography for objective assessment of retinal function and mutation screening of blood samples for detection of gene alterations. LÄS MER

  4. 3. Studies on ventilatory function in chronic neuromuscular disorders

    Författare :Jan Weinberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :ventilatory dysfunction; neuromuscular disorders; diaphragm; electromyogram; power spectrum; blood gas; ventilatory mechanics; sleep; polysomnography;

    Sammanfattning : Ventilatory dysfunction is common in neuromuscular disorders (NMD). The present studies aimed at evaluating and developing methods for diagnosis of ventilatory function in NMD. Methods included were diaphragmatic EMG (EMGdi), blood gas monitoring assessed at rest and during exercise and nocturnal respiratory and sleep parameters. LÄS MER

  5. 4. Metabolic disorders : genes and mechanisms

    Författare :Camilla Maffezzini; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Mitochondrial disorders constitute a subgroup of the large family of rare monogenic diseases called Inborn Errors of Metabolism (IEM), but defects in mitochondrial activity have also been reported in more common and complex pathologies. In the present thesis, I validate new disease-causing variants and study the underlying molecular defects in three different cases of IEM. LÄS MER

  7. 5. Phenotypic and genotypic characterization of a myelopathy in pugs : A journey from ’wobbly pugs’ to pug dog myelopathy

    Författare :Cecilia Rohdin; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Nyckelord :LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES;

    Sammanfattning : Spinal cord disease, myelopathy, in dogs have several aetiologies, all characterised by their clinical presentation. Pugs with a thoracolumbar myelopathy (PDM) differ from most dogs by developing a form of myelopathy that shows little clinical variability. LÄS MER