Sökning: "Prader-Willi Syndrome"

Visar resultat 1 - 5 av 8 avhandlingar innehållade orden Prader-Willi Syndrome.

  1. 1. Comorbidity and mortality in Prader-Willi syndrome

    Författare :Hasanain Shukur; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Background: Prader-Willi syndrome (PWS) is a multisymptomatic, rare, genetic, disorder, due to lack of the expression of paternal genes in the q11-q13 region of chromosome 15. The main characteristics of PWS are muscular hypotonia, hyperphagia, obesity, behavioral problems, cognitive disabilities, and endocrine deficiencies. LÄS MER

  3. 2. Prader-Willi syndrome : diagnosis and effects of growth hormone treatment

    Författare :Ann Christin Lindgren; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :DNA methylation test; genomic imprinting; glucose intolerance; growth hormone; Prader Willi syndrome; respiratory function;

    Sammanfattning : Prader-Willi syndrome (PWS) is a rare neurogenetic disorder characterised by hypotonia (especially pronounced in the perinatal period) with "failure to thrive", hypogonadism, hypoventilation, dysmorphic features, final short stature and mental retardation. From the age of 2 years hyperphagia develops leading to obesity if the caloric intake is not limited. LÄS MER

  4. 3. Psychiatric problems in Prader-Willi syndrome: Symptom development and clinical management

    Författare :Margareta Wigren; Göteborgs universitet; []
    Nyckelord :SAMHÄLLSVETENSKAP; SOCIAL SCIENCES;

    Sammanfattning : Saknar abstract.... LÄS MER

  5. 4. Endocrine and metabolic aspects of adult Prader Willi syndrome with special emphasis on the effect of growth hormone treatment

    Författare :Charlotte Höybye; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Prader Willi syndrome; adults; obesity; GH; IGF-I; psycho-social functioning; GH treatment;

    Sammanfattning : Prader Willi Syndrome (PWS) is a complex genetic disorder characterized by muscular hypotonia, hyperphagia, obesity and behavioural problems. Partial growth hormone (GH) deficiency and hypogonadism are common. LÄS MER

  7. 5. Development and dynamics of the normal gut microbiota

    Författare :Lisa M. Olsson; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; dynamics; ecology; gut microbiome; gut microbiota development; microbiota; richness; Prader-Willi Syndrome; stability; variation;

    Sammanfattning : Altered gut microbiota configurations have been linked to human diseases. To identify mechanistic links between altered gut microbiota and disease states, definitions of the healthy gut microbiota need to be established. LÄS MER