Search for dissertations about: "congenital malformations"

Showing result 16 - 20 of 79 swedish dissertations containing the words congenital malformations.

  2. 16. Molecular analysis of mutated P450c21 in congenital adrenal hyperplasia

    Author : Svetlana Lajic; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Congenital adrenal hyperplasia; 21-hydroxylase deficiency; P450c21; itl vitro expression; COS- I; functional analysis; prenatal treatment;

    Abstract : Defects in cytochrome P450c21 (21-hydroxylase, 210H) are the most common causes of congenital adrenal hyperplasia (CAH). This recessively inherited disorder demonstrates a wide spectrum of severity as a consequence of impaired production of cortisol and aldosterone and excessive secretion of adrenal androgens. READ MORE

  4. 17. Long-term outcome and exercise capacity in adults with congenital heart disease with focus on tetralogy of Fallot

    Author : Anette Sandström; Bengt Johansson; Camilla Sandberg; Daniel Rinnström; Michael Y. Henein; Erik Thunström; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Adults congenital heart disease; tetralogy of Fallot; exercise test; exercise capacity; mortality; register; physical activity; pacemaker; implantable cardioverter defibrillator; quality of life; Medfödda hjärtfel; Fallots tetrad; arbetsprov; fysisk prestationsförmåga; mortalitet; register; fysisk aktivitet; pacemaker; implanterbar defibrillator; livskvalitet; kardiologi; Cardiology; epidemiologi; Epidemiology;

    Abstract : Background: Congenital heart disease (CHD) includes a wide range of malformations, from simple lesions, e.g. ventricular septal defect, that resolve spontaneously, to severe lesions, e.g. READ MORE

  5. 18. Molecular Studies of Diamond-Blackfan Anemia and Congenital Nail Dysplasia

    Author : Anne-Sophie Fröjmark; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diamond-Blackfan Anemia; RPS19; RPS24; PIM-1; Erythropoiesis; Cell cycle; Apoptosis; Nail dysplasia; FZD6; WNT signaling; Clinical genetics; Klinisk genetik;

    Abstract : The aim of this thesis is to investigate the effect of genetic mutations on the pathophysiology of two human disorders: Diamond-Blackfan Anemia (DBA) and isolated congenital nail dysplasia. The first part of this thesis (Paper I-III) investigates the mechanism associated with DBA. READ MORE

  6. 19. Surgically corrected univentricular hearts. Anatomical, haemodynamic and functional status at a long-term follow-up

    Author : Eva Strömvall-Larsson; Göteborgs universitet; []
    Keywords : cavopulmonary connections; univentricular hearts; long-term follow-up; pulmonary; arteriovenous malformations; lung volumes; cardiac output; pulmonary gas exchange and maximal; exercise studies;

    Abstract : The Fontan operation and its modifications are applied to a large spectrum of congenital heart defectswith univentricular physiology. The Fontan circulation is characterised by a reduced, non-pulsatilepulmonary blood flow and the elevated central venous pressure is the main driving force for thepulmonary blood flow. READ MORE

  7. 20. Molecular regulation of thyroid development. New mechanisms of normal and defective morphogenesis

    Author : Henrik Fagman; Göteborgs universitet; []
    Keywords : thyroid; congenital hypothyroidism; thyroid dysgenesis; cadherins; pharyngeal arch arteries; Shh; Tbx1;

    Abstract : Congenital hypothyroidism (CH) is untreated a major cause of mental retardation. The majority of cases are due to malformations of the gland (dysgenesis). Little is known of molecular mechanisms regulating thyroid morphogenesis. READ MORE