Sökning: "Duchenne"

Visar resultat 1 - 5 av 10 avhandlingar innehållade ordet Duchenne.

  1. 1. Bone Mineral Density Determination in Children. Evaluation of a novel method and application to Duchenne muscular dystrophy

    Författare :Ann-Charlott Söderpalm; Göteborgs universitet; []
    Nyckelord :adolescents; age- and gender-matched; Becker; bone densitometry; bone markers; bone mineral density; calciotropic hormones; children; DXA; DXL; Duchenne; glucocorticoids; muscular dystrophy; normative; reference values; skeleton;

    Sammanfattning : Aims: The overall aims of this thesis were to evaluate the dual-energy X-ray and laser (DXL) method for bone densitometry measurements of the calcaneus in children, to provide reference data for bone mineral density (BMD) in the heel bone in young children and to apply the DXL technique to patients with Duchenne muscular dystrophy (DMD) and conduct a survey about bone health of DMD patients. Study populations and methods: The DXL Calscan method was modified and adapted for measurements in children and applied to bone densitometry in all subsequent studies. LÄS MER

  3. 2. Proteomic strategies for blood biomarker development in rare dystrophinopathies

    Författare :Camilla Johansson; Cristina Al-Khalili Szigyarto; Ola Söderberg; KTH; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Duchenne muscular dystrophy; Becker muscular dystrophy; proteomics; affinity-proteomics; biomarkers; DIA-MS; SRM-MS; immunoassay; suspension bead arrays; Duchenne muskeldystrofi; Becker muskeldystrofi; proteomik; affinitetsproteomik; biomarkörer; DIA-MS; SRM-MS; immunoassay; suspension bead array; Biotechnology; Bioteknologi;

    Sammanfattning : Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are two rare genetic disorders of the family dystrophinopathy. They are both caused by the lack of, or reduced production of, the protein dystrophin. LÄS MER

  4. 3. The health economics of Duchenne muscular dystrophy

    Författare :Erik Landfeldt; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease characterized by progressive muscle degeneration resulting in loss of independent ambulation, serious multisystem complications, and a mean life expectancy at birth of about 25 years. Several therapies are on the horizon for DMD and it has thus become urgent to better understand the health economic context of the disease to enable assessments of cost-effectiveness and inform decisions regarding reimbursement of new health technologies. LÄS MER

  5. 4. Muscle strength and motor function in neuromuscular disorders. A clinical study of children and adolescents with spinal muscular atrophy, myotonic dystrophy, Duchenne muscular dystrophy and amyoplasia

    Författare :Anna-Karin Kroksmark; Göteborgs universitet; []
    Nyckelord :muscle involvement; muscle function; motor performance; contractures; spinal muscular atrophy; myotonic dystrophy; Duchenne muscular dystrophy; amyoplasia; arthrogryposis multiplex congenita;

    Sammanfattning : Aim: The aims of this study were to investigate muscle strength and motor function in children and adolescents with four neuromuscular disorders; 1) spinal muscular atrophy (SMA), 2) myotonic dystrophy (DM), 3) Duchenne muscular dystrophy (DMD and 4) the amyoplasia form of arthrogryposis multiplex congenita. Further: 1) to analyze compensatory maneuvers due to muscle weakness in individuals with SMA, 2) to correlate motor function in individuals with DM with the size of the mutation, 3) to evaluate the long-term side effects and effects on muscle strength, motor function, vital capacity and development of scoliosis in boys with DMD treated with low-dose prednisone, and 4) to investigate how muscle strength and joint contractures affect motor function in individuals with amyoplasia and to relate current status to joint position at birth. LÄS MER

  7. 5. Functional ability in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy assessed with the EK scale

    Författare :Birgit F Steffensen; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Duchenne muscular dystrophy; EK scale; functional ability; natural history; nonambulatory stage; predictor; reliability; scoliosis; spinal muscular atrophy; treatment; validity.;

    Sammanfattning : Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are neuromuscular diseases characterised by profound global skeletal muscle weakness leading to severe physical disability. The EK scale, an instrument for assessment of functional ability in non-ambulatory people with DMD or SMA, was developed. LÄS MER