Sökning: "rare diseases"

Visar resultat 1 - 5 av 165 avhandlingar innehållade orden rare diseases.

  1. 1. Healthcare Priority Setting and Rare Diseases : What Matters When Reimbursing Orphan Drugs

    Författare :Johanna Wiss; Gustav Tinghög; Per Carlsson; Lars-Åke Levin; Ann-Charlotte Nedlund; Joanna Coast; Linköpings universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; SAMHÄLLSVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES; SOCIAL SCIENCES;

    Sammanfattning : The rarity of a disease can give rise to challenges that differ from conventional diseases. For example, rarity hampers research and development of new drugs, and patients with severe, rare diseases have limited access to qualified treatments. When drugs are available, clinical evidence has higher uncertainty and the drugs can be very expensive. LÄS MER

  2. 2. Epidemiology of Enterococci with Acquired Resistance to Antibiotics in Sweden : Special emphasis on Ampicillin and Vancomycin

    Författare :Erik Torell; Mats Kallin; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Communicable diseases; Antimicrobial resistance; enterococci; epidemiology in Sweden; intra-hospital spread; shedding; risk-factors; infection; colonization; virulence factors; ARE; VRE; Php; PFGE; esp; gyrA; parC; Infektionssjukdomar; Infectious diseases; Infektionssjukdomar; infektionssjukdomar; Infectious Diseases;

    Sammanfattning : The first hospital outbreak of vancomycin-resistant enterococci (VRE) and carriage rates of VRE and ampicillin-resistant enterococci (ARE) in Sweden were investigated. Clonal relationships and mutations in fluoroquinolone resistance determining regions among ARE collected nation-wide were studied. LÄS MER

  3. 3. Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease : Translational Studies of Two Neurogenetic Diseases

    Författare :Jimmy Sundblom; Anja Smits; Raili Raininko; Niklas Dahl; Klas Kullander; Åsa Fex-Svenningsen; Marianne de Visser; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Inborn genetic diseases; Leukoencephalopathies; Lamin type B; Muscular disease; Caveolin 3; Neurology; Neurologi;

    Sammanfattning : There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. LÄS MER

  4. 4. Genetic causes and molecular mechanisms underlying rare metabolic bone diseases

    Författare :Alice Costantini; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Sammanfattning : The skeletal system provides support for the body, enables movement and protects inner organs. Moreover, it supplies blood cells and acts as a reservoir for minerals and fat. Several external factors, including nutrition and long-term illness, influence bone health but genetic factors also play an important role. LÄS MER

  5. 5. Protein Misfolding in Human Diseases

    Författare :Karin Almstedt; Per Hammarström; Daniel Otzen; Linköpings universitet; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; Misfolding; carbonic anhydrase; prion protein; protein stability; Biochemistry; Biokemi;

    Sammanfattning : There are several diseases well known that are due to aberrant protein folding. These types of diseases can be divided into three main categories:Loss-of-function diseasesGain-of-toxic-function diseasesInfectious misfolding diseases Most loss-of-function diseases are caused by aberrant folding of important proteins. LÄS MER