Avancerad sökning

Hittade 5 avhandlingar som matchar ovanstående sökkriterier.

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

   Författare :Per-Inge Carlsson; Erik Borg; Berth Danermark; Claes Möller; Örebro universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

3. 2. Lära och Leva : Kunskapsutveckling hos personer med en ärftlig dövhet/hörselnedsättning

   Författare :Anna-Carin Rehnman; Bozena Hautaniemi; Mats Myrberg; Berth Danermark; Stockholms universitet; []
   Nyckelord :SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; deafness; hearing loss; hearing impairment; knowledge; upbringing; education; hermeneutic; Paul Ricoeur; specialpedagogik; Special Education;

   Sammanfattning : The aim of this study is to explore the development of how people in different generations of a family with a hereditary hearing loss developed knowledge and to examine the role of the educational system and how it influenced this development.The research questions are:What is the prevalence of the deafness spoken of in the family chronicle?What different kinds of knowledge did the family members with deafness/hearing loss develop and how did they make use of them?In what ways may they have experienced their deafness/hearing loss as a suffering?What knowledge did they develop because the hearing loss recurred in several successive generations?The studied material includes answers from a questionnaire, different historical documents and sixteen interviews. LÄS MER

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

   Författare :Åsa Skjönsberg; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :age-dependent hearing loss; cisplatin; DPOAE; efferent system; gender; gentamicin; noise trauma; ototoxic drugs; protection;

   Sammanfattning : 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. LÄS MER

5. 4. Living with osteogenesis imperfecta

   Författare :Veronica Balkefors; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : 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. LÄS MER

7. 5. Targeting the hematopoietic stem cell to correct osteopetrosis

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

   Sammanfattning : 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. LÄS MER