Search for dissertations about: "slowly-progressive"

Showing result 1 - 5 of 18 swedish dissertations containing the word slowly-progressive.

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

    University dissertation from Henrik Borg, Wallenberg Laboratory, Entrance 46 2nd floor, Malmö University Hospital, SE-205 02 Malmö, Sweden

    Author : Henrik Borg; Lund University.; Lunds universitet.; [2002]
    Keywords : 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;

    Abstract : 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. READ MORE

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

    University dissertation from Ophthalmology (Lund), Lund University

    Author : Vesna Ponjavic; Lund University.; Lunds universitet.; [1997]
    Keywords : 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;

    Abstract : 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. READ MORE

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

    University dissertation from Stockholm : Karolinska Institutet, Department of Clinical Neuroscience

    Author : Jan Weinberg; Karolinska Institutet.; Karolinska Institutet.; [1999]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ventilatory dysfunction; neuromuscular disorders; diaphragm; electromyogram; power spectrum; blood gas; ventilatory mechanics; sleep; polysomnography;

    Abstract : 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. READ MORE

  4. 4. Metabolic disorders : genes and mechanisms

    University dissertation from Stockholm : Karolinska Institutet, Dept of Medical Biochemistry and Biophysics

    Author : Camilla Maffezzini; Karolinska Institutet.; Karolinska Institutet.; [2019]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : 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. READ MORE

  5. 5. Ventilatory aspects of sleep and activity in patients with neuromuscular disorders

    University dissertation from Stockholm : Karolinska Institutet, Department of Clinical Neuroscience, Occupational Therapy and Elderly Care Research (NEUROTEC)

    Author : Brita Klefbeck Stridsman; Karolinska Institutet.; Karolinska Institutet.; [1998]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; assisted ventilation; cervical cord injury; inspiratory muscle training; neuromuscular diseases; sleep; oximetry; trunk stability;

    Abstract : Patients with cervical cord injuries (M) and slowly progressive neuromuscular diseases, such as prior polio and muscular dystrophy, often have decreased ventilatory capacity. This could affect both their daytime level of activity and sleep quality. READ MORE