Sökning: "hereditary hearing impairment"
Hittade 5 avhandlingar innehållade orden hereditary hearing impairment.
1. Hearing impairment and deafness : genetic and environmental factors - interactions - consequences : a clinical audiological approachDetta är en avhandling från Örebro : Örebro universitetsbibliotek
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
- Detta är en avhandling från Stockholm : Specialpedagogiska institutionen, Stockholms universitet
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loss recurred in several successive generations?The studied material includes answers from a questionnaire, different historical documents and sixteen interviews.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
3. Hereditary susceptibility to inner ear stress agents studied in heterozygotes of the German waltzing guinea pigDetta är en avhandling från Stockholm : Karolinska Institutet, Department of Clinical Neuroscience
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
- Detta är en avhandling från Stockholm : Karolinska Institutet, Dept of Neurobiology, Care Sciences and Society
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
- Detta är en avhandling från Division of Molecular Medicine and Gene Therapy
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