Search for dissertations about: "Diagnostic delay"

Showing result 21 - 25 of 57 swedish dissertations containing the words Diagnostic delay.

  2. 21. Gene dose imbalances in children with mental retardation

    Author : Jacqueline Schoumans; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Mental retardation; MCA MR syndromes; cromosome abnormalities; subtelomeric FISH; comparative genomichybridization; array-CGH;

    Abstract : Submicroscopic chromosome aberrations can cause mental retardation (MR), congenital malformations and miscarriage. It is difficult to estimate the contribution of cytogenetic abnormalities to MR because of relatively low detection sensitivity of conventional cytogenetic methods used in the diagnostic setting. READ MORE

  4. 22. Epidemiologic studies on acute appendicitis in children

    Author : Markus Almström; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Acute appendicitis is the most common surgical emergency in children. A considerable effort has been made to develop and improve treatment and outcomes. A PubMed search yields over 20 000 publications on appendicitis. Almost 8 000 abstracts are found if the search is restricted to children. READ MORE

  5. 23. Genetics of the carbohydrate-deficient glycoprotein syndrome type Ia

    Author : Cecilia Bjursell; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CDG Ia; PMM2; chromosome 16; linkage; linkage disequilibrium; prenatal diagnosis;

    Abstract : In recent years, a revolution in the development of new techniques have made it possible to perform genetic studies of inherited disorders without prior knowledge about the gene product or the function of the gene. The techniques include linkage studies, allelic association studies, physical mapping and the sequencing of candidate genes for finding disease causing mutations. READ MORE

  6. 24. The 22q11 deletion syndrome.A clinical and epidemiological study

    Author : Sólveig Oskarsdóttir; Göteborgs universitet; []
    Keywords : 22q11 deletion; disability; dysmorphology; incidence; phenotype;

    Abstract : Aims: The aims of this study were to 1) assess the incidence and prevalence of the 22q11 deletion syndrome(22q11DS) in a defined population of western Sweden, 2) to evaluate the presenting phenotype and 3)to investigate the profile of cognitive and nervous system-related disabilities and the resulting handicap,taking into account physical, neurological and psychological aspects.Material and Methods: The incidence was studied in children born in the Western Götaland Region,where Göteborg is the main city, during the years 1991-2000. READ MORE

  7. 25. Dried blood sampling and digital readout to advance molecular diagnostics

    Author : Johan Björkesten; Ulf Landegren; Björn Högberg; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; molecular diagnostics; dried blood sample; DBS; digital readout; digital enumeration; DNA detection methods; proximity extension assay; protein stability; genotyping; rare mutations; cell free DNA; multiplex protein measurement.; Farmaceutisk vetenskap; Pharmaceutical Science;

    Abstract : A drastically increased capacity to measure large sets of molecular features in numerous patient samples in great detail will be required to fulfill the vision of precision medicine and wellness, which may characterize molecular diagnostics in the 21st century. Also sampling procedures need a renaissance to permit continuous sampling at population levels at reasonable cost. READ MORE