Sökning: "glucose deficit"

Visar resultat 1 - 5 av 7 avhandlingar innehållade orden glucose deficit.

  1. 1. Glycerol kinase deficiency. Clinical, biochemical, and genetic aspects

    Författare :Christina Hellerud; Göteborgs universitet; []
    Nyckelord :contiguous gene syndrome; diagnose; exercise; fasting; glucose deficit; glycerol; glycerol kinase deficiency; metabolism; molecular modelling; mRNA analysis; mutation; natural history; prognosis; splice-junction analysis; treatment; triglycerides;

    Sammanfattning : Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked recessive inborn error of metabolism occurring isolated or in an Xp contiguous gene syndrome with adrenal hypoplasia and/or Duchenne muscular dystrophy. The gene syndrome is due to deletions in the p21 region on the X chromosome. LÄS MER

  3. 2. Aspects of hypoglycaemia in newborns of diabetic mothers and in children with Type 1 diabetes

    Författare :Erik Stenninger; Ingemar Kjellmer; Linköpings universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : The occurrence and possible causal factors of macrosomia and postnatal hypoglycaemia were investigated in infants of diabetic mothers. Acute neurophysiological effects, the long-term nemodevelopmental outcome, and the use of glucagon in prevention and treatment of hypoglycaemia, were also studied in children with insulin-dependent diabetes mellitus (IDDM) and infants of diabetic mothers. LÄS MER

  4. 3. On the pathophysiology of idiopathic adult hydrosephalus syndrome : energy metabolism, protein patterns, and intracranial pressure

    Författare :Aina Ågren Wilsson; Per Enblad; Umeå universitet; []
    Nyckelord :hydrocephalus; biochemical markers; microdialysis; cerebrospinal fluid; B waves; brain tissue oxygen tension; Neurology; neurologi;

    Sammanfattning : The symptoms in Idiopathic Adult Hydrocephalus Syndrome (IAHS) – gait disturbance, incontinence, and cognitive deficit – correlate anatomically to neuronal dysfunction in periventricular white matter. The pathophysiology is considered to include a cerebrospinal fluid (CSF) hydrodynamic disturbance, including pressure oscillations (“B waves”), in combination with cerebrovascular disease. LÄS MER

  5. 4. Programming of cardiovascular and metabolic functions by thyroid hormone signaling

    Författare :Milica Uhde; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Thyroid Hormones (TH) regulate myriad processes, such as development, metabolism and cardiovascular functions, by controlling gene expression through binding to nuclear thyroid hormone receptors, TRα and TRβ. While patients with mutations in the TRβ gene are well known, patients with TRα mutations have only recently been identified. LÄS MER

  7. 5. Maternal metabolic health and neurodevelopmental conditions in offspring

    Författare :Shuyun Chen; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Background Observational studies published in the last decade have indicated relationships between maternal “overnutrition” states and offspring neurodevelopmental conditions (NDCs), such as autism, attention deficit/hyperactivity disorder (ADHD), and intellectual disability (ID). “Maternal overnutrition” states have been characterized by a series of metabolic conditions before pregnancy (i. LÄS MER