Search for dissertations about: "genetic disease"

Showing result 11 - 15 of 1687 swedish dissertations containing the words genetic disease.

  2. 11. Autoantibodies and genetic variation in rheumatoid arthritis : aspects on susceptibility and disease course

    Author : Alf Kastbom; Thomas Skogh; Peter Söderkvist; Alex Karlsson-Parra; Linköpings universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rheumatoid arthritis; autoantibodies; single-nucleotide polymorphisms; disease course; Rheumatology; Reumatologi;

    Abstract : Rheumatoid arthritis (RA) is an autoimmune disease characterized by chronic inflammation and subsequent destruction of synovial joints. Although its causes remain largely unknown, a substantial genetic contribution is known to exist. READ MORE

  4. 12. Cardiovascular disease and all-cause mortality : influence of fitness, fatness and genetic factors

    Author : Gabriel Högström; Anna Nordström; Peter Nordström; Johan Sundström; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; all-cause mortality; aerobic fitness; obesity; cardiovascular disease; stroke; myocardial infarction; Epidemiology; epidemiologi; Population studies; befolkningsstudier; Cardiology; kardiologi;

    Abstract : BackgroundLow aerobic fitness and obesity are associated with atherosclerosis, and thereforegreatly increase the risk of cardiovascular disease (CVD) and early death. It has long been known that atherosclerosis my begin early in life. READ MORE

  5. 13. Chosen Children? : An empirical study and a philosophical analysis of moral aspects of pre-implantation genetic diagnosis and germ-line gene therapy

    Author : Kristin Zeiler; Lennart Nordenfelt; Gunilla Tegern; Karin Sporre; Åge Wifstaad; Linköpings universitet; []
    Keywords : HUMANIORA; HUMANITIES; Empirical ethics; pre-implantation genetic diagnosis; germ-line gene therapy; qualitative research; philosophical analysis; medical progress; genetic disease; choice; auautonomous; ambivalence; trust; genetic identity; Genterapi; biologisk etik; medicinsk etik; preimplanatorisk genetisk diagnostik; Philosophy subjects; Filosofiämnen;

    Abstract : With pre-implantation genetic diagnosis (PGD), genetic testing and selective transfer of embryos is possible. In the future, germ-line gene therapy (GLGT) applied to embryos before implantation, in order to introduce missing genes or replace mutant ones, may be possible. READ MORE

  6. 14. Molecular genetic studies on cystinuria

    Author : Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

    Abstract : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. READ MORE

  7. 15. On the aetiology of ALS : a comprehensive genetic study

    Author : Caroline Ingre; Peter M Andersen; Rayomand Press; Siddharthan Chandran; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; risk factor; VAPB; SOD1; amyotrophic lateral sclerosis; ATXN2; SMN1; SMN2; PFN1; 50 bp deletion in SOD1 promotor; population-specific genetic variations; Neurology; neurologi;

    Abstract : Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of unknown cause. READ MORE