Search for dissertations about: "hereditary hearing impairment"

Found 4 swedish dissertations containing the words hereditary hearing impairment.

  1. 1. Hearing impairment and deafness : genetic and environmental factors - interactions - consequences : a clinical audiological approach

    Author : Per-Inge Carlsson; Erik Borg; Berth Danermark; Claes Möller; Örebro universitet; []
    Keywords : SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Disability studies; hereditary hearing impairment; deafness; noise induced hearing loss; Deaf community; connexin mutations; oxidative stress genes; family history of hearing impairment; audiological rehabilitation; audiological medicine; Handikappforskning; Disability research; Handikappsforskning; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; Social sciences; Socialvetenskap; Medicinsk handikappvetenskap; Medical Disability Research;

    Abstract : OBJECTIVES - Hearing impairment (HI) can be due to genetic or environmental factors, e.g. noise. More than 50% of HI cases are thougt to be hereditary. READ MORE

  2. 2. Hereditary susceptibility to inner ear stress agents studied in heterozygotes of the German waltzing guinea pig

    Author : Åsa Skjönsberg; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; age-dependent hearing loss; cisplatin; DPOAE; efferent system; gender; gentamicin; noise trauma; ototoxic drugs; protection;

    Abstract : The German waltzing guinea pig is a strain of animals expressing deafness and severe balance disorders already at birth. The mutation arose spontaneously in a breeding facility in Germany and as the affected animals show a characteristic waltzing behavior, the strain is named the German waltzing guinea pig. READ MORE

  3. 3. Living with osteogenesis imperfecta

    Author : Veronica Balkefors; Karolinska Institutet; Karolinska Institutet; []

    Abstract : Osteogenesis Imperfecta (OI) is a hereditary connective tissue disorder with fragility of the bones as the dominant symptom. There is no cure for OI, but symptoms are treated with medical, orthopaedic and physiotherapy methods. The disease group is very heterogeneous and knowledge about adults living with the milder forms, type I or IV is limited. READ MORE

  4. 4. Targeting the hematopoietic stem cell to correct osteopetrosis

    Author : Carmen Flores Bjurström; Avdelningen för molekylärmedicin och genterapi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hematopoietic stem cells; bone marrow transplantation; gene therapy; osteoclasts; infantile malignant osteopetrosis;

    Abstract : This thesis focuses on developing stem cell targeted gene therapy for the severe hereditary disorder Infantile Malignant Osteopetrosis (IMO) as well as increasing the understanding of how the genetic defect present in IMO affects the hematopoietic stem cells and hematopoiesis in general. IMO is a rare congenital disorder associated with an increased number of non-functional osteoclasts and the absence of bone resorption results in accumulation of sclerotic bone leading to abnormal bone marrow cavity formation insufficient to support hematopoiesis. READ MORE