Search for dissertations about: "overlap syndrome"

Showing result 1 - 5 of 15 swedish dissertations containing the words overlap syndrome.

  1. 1. Asperger syndrome and schizophrenia. Psychiatric and social cognitive aspects

    University dissertation from Göteborg : University of Gothenburg

    Author : Tove Lugnegård; Göteborgs universitet.; Gothenburg University.; [2012]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Asperger syndrome; Autism spectrum; Schizophrenia; Autism-spectrum Quotient; Animations Task; Reading the Mind in the Eyes Test; Personality Disorder;

    Abstract : Background: Asperger syndrome (AS) and schizophrenia are psychiatric disorders often implying low global social functioning and a life-long course. Both disorders are of neurodevelopmental origin and genetic factors are prominent. READ MORE

  2. 2. Genetic and Clinical Investigation of Noonan Spectrum Disorders

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Sara Ekvall; Uppsala universitet.; [2012]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RASopathies; Noonan syndrome; neurofibromatosis type 1; neurofibromatosis-Noonan syndrome; RAS-MAPK pathway; mutation; Medical Science; Medicinsk vetenskap;

    Abstract : Noonan spectrum disorders belong to the RASopathies, a group of clinically related developmental disorders caused by dysregulation of the RAS-MAPK pathway. This thesis describes genetic and clinical investigations of six families with Noonan spectrum disorders. READ MORE

  3. 3. RAS-MAPK syndromes - a Clinical and Molecular Investigation

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Anna-Maja Nyström; Uppsala universitet.; [2009]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RAS-MAPK syndromes; Noonan syndrome; Neurofibromatosis type I; cardio-facio-cutaneous syndrome; mutation; multiplex ligation-dependent probe amplification; gene; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Molecular medicine genetics and pathology ; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Molekylär medicin genetik och patologi ; Klinisk genetik; Clinical Genetics;

    Abstract : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. READ MORE

  4. 4. Homocysteine and Coronary Artery Disease With special Reference to Biochemical Effects Of Vitamin Therapy

    University dissertation from Department of Cardiology, Clinical sciences, Lund University

    Author : Torfi Jonasson; Lunds universitet.; Lund University.; [2006]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Klinisk kemi; Clinical chemistry; pyridoxine.; oxidative stress; lipid peroxidation; inflammation; homocysteine; endothelial function; folate; F2-isoprostanes; cystatine C; Acut coronary syndrome; cardiovascular disease; asymmetric dimethylarginine; cobalamine;

    Abstract : Popular Abstract in Swedish Homocystein är en aminosyra som bildas genom nedbrytning av aminosyran metionin, som tillförs kroppen via födan. Förhöjda blodnivåer av homocystein kan orsakas av medfödda enzymrubbningar, brist på vitaminerna folsyra och B12, och vissa sjukdomar, t ex njursvikt. READ MORE

  5. 5. Acute lung injury : incidence and predictors of outcome with special reference to inhaled nitric oxide

    University dissertation from Stockholm : Karolinska Institutet, Karolinska Institutet at Danderyds Hospital

    Author : Owe Luhr; Karolinska Institutet.; Karolinska Institutet.; [1999]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Respiratory distress syndrome; Adult; -drug-therapy; -mortality; Treatment; -outcome; Nitric oxide; therapeutic-use; administration-and-dosage; -adverse effects; Mutagenicity; tests; Chromosome aberrations; Risk factors; Logistic models; Prospective studies.;

    Abstract : This work started out as a critical examination of the initial clinical experiences with inhalation of nitric oxide (INO) to patients with acute lung injury (ALI) and acute respiratory distress syndrome (ARDS) in Scandinavia 1991-1994. During this examination, we found that epidemiological data and prognostic factors were lacking in Scandinavia for these patient groups, making it difficult to evaluate new therapies. READ MORE