Sökning: "rare diseases"

Visar resultat 11 - 15 av 211 avhandlingar innehållade orden rare diseases.

  1. 11. Disease-causing Keratin Mutations and Cytoskeletal Dysfunction in Human Skin : In vitro Models and new Pharmacologic Strategies for Treating Epidermolytic Genodermatoses

    Författare :Jean Christopher Chamcheu; Anders Vahlquist; Hans Törmä; Harshad Navsaria; Marie Virtanen; Torbjörn Egelrud; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; epidermolysis bullosa simplex; epidermolytic ichthyosis; genodermatoses; keratin; keratin mutation; keratinocytes; gene therapy; pharmacological therapy; immortalization; gene regulation; trimethylamine N-oxide TMAO ; sodium 4-phenylbutyrate 4-PBA ; tissue engineering; cell culture; heat shock proteins; MAP kinases; Dermatology and venerology; Dermatologi och venerologi; Dermatologi och venereologi; Dermatology and Venerology;

    Sammanfattning : Epidermolysis bullosa simplex (EBS) and epidermolytic ichthyosis (EI) are rare skin fragility diseases characterized by intra-epidermal blistering due to autosomal dominant-negative mutations in basal (KRT5 or KRT14) and suprabasal (KRT1 or KRT10) keratin genes,  respectively. Despite vast knowledge in the disease pathogenesis, the pathomechanisms are not fully understood, and no effective remedies exist. LÄS MER

  3. 12. Hereditary ichthyosis : Causes, Skin Manifestations, Treatments and Quality of Life

    Författare :Agneta Gånemo; Åke Svensson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Dermatology and venereology; Ichthyosis; congenital ichthyosis; genodermatoses; skin disease; quality of life; topical treatment; lactic acid; propylene glycol; Dermatologi och venerologi; Dermatology and venerology; Dermatologi och venerologi; Dermatology and Venerology; dermatologi och venereologi;

    Sammanfattning : Hereditary ichthyosis is a collective name for many dry and scaly skin disorders ranging in frequency from common to very rare. The main groups are autosomal recessive lamellar ichthyosis, autosomal dominant epidermolytic hyperkeratosis and ichthyosis vulgaris, and x-linked recessive ichthyosis. LÄS MER

  4. 13. A Palliative Approach to Dementia Care : Leadership and organisation, existential issues and family support

    Författare :Lars Albinsson; Britt-Marie Ternestedt; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine; Dementia; palliative care; leadership; staff; existential issues; family support; Medicin; Dermatology and venerology; clinical genetics; internal medicine; Dermatologi och venerologi; klinisk genetik; invärtesmedicin; hälso- och sjukvårdsforskning; hälso- och sjukvårdsforskning;

    Sammanfattning : The main purpose of this thesis was to apply the WHO and NHS palliative care approach to dementia care. Thirty-one staff-members in mid-Sweden (studies I and II) and 20 next-of- kin (study IV) were interviewed. LÄS MER

  5. 14. Penile Intraepithelial Neoplasia and Penile Cancer. Risk Factors and Treatment

    Författare :Sinja Kristiansen; Dermatologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Penile intrapithelial neoplasia; PeIN; penile cancer; risk factors; HPV; incidence; histopathology;

    Sammanfattning : AbstractPenile cancer and its precursor, penile intraepithelial neoplasia (PeIN), are rare malignancies. Data on risk factors, incidence, and treatment of PeIN is scarce. The prevalence of human papillomavirus (HPV) varies substantially between studies of penile cancer. LÄS MER

  7. 15. Vaccine-induced aluminium allergy and long-lasting subcutaneous itching nodules

    Författare :Anette Gente-Lidholm; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Childhood vaccine; Adverse event; Aluminium; Aluminium allergy; Itching nodules; Subcutaneous granulomas; Patch test; Tolerance;

    Sammanfattning : Background: Aluminium contact dermatitis is rare even though aluminium is frequently used in antiperspirants and sunscreens. Sensitisation to aluminium is mostly a side effect of aluminium-adsorbed vaccines. These can also induce long-lasting intensely itching subcutaneous nodules (granulomas) at the injection site. LÄS MER