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Träfflista för sökning "WFRF:(Friberg Ulla) "

Sökning: WFRF:(Friberg Ulla)

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1.
  • Friberg, Tora, 1945-, et al. (författare)
  • Ett segregerat samhälle
  • 1985
  • Ingår i: Dagens nyheter. - 1101-2447. ; :29 april 1985
  • Tidskriftsartikel (populärvet., debatt m.m.)abstract
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2.
  • Boström, Marja, et al. (författare)
  • Effects of Neurotrophic Factors on Growth and Glial Cell Alignment of Cultured Adult Spiral Ganglion Cells
  • 2009
  • Ingår i: Audiology & neuro-otology. - : S. Karger AG. - 1420-3030 .- 1421-9700. ; 15:3, s. 175-186
  • Tidskriftsartikel (refereegranskat)abstract
    • Adult spiral ganglion cells were cultured in chorus to assess the influence of the neurotrophins brain-derived neurotrophic factor, neurotrophin 3 and glial cell line-derived neurotrophic factor (GDNF) on neurite growth and Schwann cell alignment. Over 1500 measurements were collected using each factor at 10 ng/ml and all three in combination. Evaluation was made with GDNF at concentrations of up to 100 ng/ml. Neurite dimensions were assessed at days 5, 7, 9 and 11 using a computer-based program (Axon Analyzer). GDNF had a strong effect on spiral ganglion cell growth almost attaining the level of all three factors in combination. GDNF increased glial cell alignment and nerve bundle formation. Results show the potential of GDNF to maintain and possibly restore auditory nerve integrity.
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3.
  • Danckwardt-Lillieström, Niklas, et al. (författare)
  • "Endolymphatic sacitis" in a case of active Menière's disease : an ultrastructural histopathologic investigation
  • 1997
  • Ingår i: Annals of Otology, Rhinology and Laryngology. - 0003-4894 .- 1943-572X. ; 106:3, s. 190-198
  • Tidskriftsartikel (refereegranskat)abstract
    • An ultrastructural analysis of an entire intraosseous endolymphatic sac (ES) from a patient with active, well-documented Menière's disease was performed for the first time. The results were compared with those obtained from ES biopsy material from patients with acoustic neuromas. The ES was small in size and showed signs of focal inflammation with intraepithelial invasion by mononuclear cells. At these places the normal fine structure, including the vascular anatomy, was altered. The possible relationship between these changes and Meniere's disease is discussed.
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4.
  • Danckwardt-Lillieström, Niklas, et al. (författare)
  • Steriocilia-like structures in the endolymphatic sac in Ménière's disease and acoustic neuroma
  • 1998
  • Ingår i: Journal for Oto-Rhino-Laryngology. - 0301-1569 .- 1423-0275. ; 60:4, s. 190-197
  • Tidskriftsartikel (refereegranskat)abstract
    • The vestibular aqueduct was surgically removed in 3 patients undergoing labyrinthectomy due to severe Ménière's disease (MD). Stereocilia-like structures were found in the luminal contents of the endolymphatic sac (ES) in all of these patients. The ES from 18 patients with acoustic neuroma were used as controls. In 1 of these, numerous stereocilia-like structures were found in the ES and in 3 additional patients, a few isolated cilia-like structures were disclosed. The findings may suggest an ongoing hair cell degeneration in the inner ear that is more advanced in patients with MD. The data also suggest that the endolymphatic duct is patent and that a longitudinal flow of endolymph also occurs in patients with MD.
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9.
  • Frykholm, Carina, 1958- (författare)
  • Clinical and Genetic Studies of Hearing Impairment
  • 2007
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Monogenic disorders offer a possibility for studies of genetic disturbances in hearing impairment—a knowledge which could be essential for development of future treatment options. In this thesis, the underlying genetic disturbances in neurofibromatosis 2 (NF2) and familial Meniere’s disease (FMD) were evaluated, and familial X-linked hearing impairment was described from a clinical point of view. In paper I, constitutional DNA from 116 individuals with NF2 of variable severity was studied using the array-CGH method focusing on a 7.6-Mb area surrounding the NF2 gene on chromosome 22q. Deletions were found in 20.7% of samples. In mild NF2, the deletions were small, but variable sizes of deletions were found in cases that were moderately or severely affected. Disease phenotype could not be predicted from the size of the deletions. In papers II and III, a single five-generation family with autosomal dominant FMD was described. Anticipation concerning age of onset was observed. Genome scan revealed five candidate gene regions with a LOD score of > 1. Two additional families with autosomal dominant MD were analyzed for linkage to these five regions. A cumulative Zmax of 3.46 was obtained for a single 463-kb region on chromosome 12p12.3, containing only one known gene: PIK3C2G. This encodes a protein with a proposed role in hair cell regeneration in mammalian ears. No mutations were found in protein-coding sequences or exon-intron borders. In two of the three families, a shared haplotype, suggested common ancestry, was found to extend over 1.7 Mb, which could be a genomic region of importance for FMD. In paper IV, a family in which five males displayed progressive low- and mid-frequency hearing impairment from the first or second decade was described. Female carriers were affected by a high-frequency hearing impairment from the fourth decade. The family could represent a novel X-linked dominant audiophenotype.
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10.
  • Frykholm, Carina, et al. (författare)
  • Familial Meniere's disease in five generations
  • 2006
  • Ingår i: Otology and Neurotology. - : Ovid Technologies (Wolters Kluwer Health). - 1531-7129 .- 1537-4505. ; 27:5, s. 681-686
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective: Clinical characterization of a Swedish family followed for five generations. Several members of each generation had Meniere's disease (MD). Possible modes of genetic transmission were assessed. Study Design: Retrospective family survey. Setting: University hospital. Tertiary referral center. Patients: Members of a large family in which several members in each generation were affected by MD. Interventions: Hearing levels were assessed, and the patients were asked to complete a questionnaire regarding age at onset, hearing loss, tinnitus, aural fullness, vertigo, and if MD was unilateral or bilateral. Glycerol tests were performed in a few cases. For deceased relatives, information was obtained from patient charts and interviews with relatives. Genetic studies with linkage analysis was performed for the loci DFNA 1, DFNA6/14, DFNA9, and DFNA 15. Results: One member of Generation I and, according to patient charts, two members of Generation 11 could have suffered from MD. In Generations III to V, 9 of 25 members developed inner ear dysfunction. Six of these individuals developed MD that was strictly in accordance with American Academy of Otolaryngology and Head and Neck Surgery, 1995 guidelines criteria, whereas three individuals had unilateral or bilateral hearing impairment, one in combination with benign paroxysmal positioning vertigo, which could represent an incomplete expression of the disease. ne mean age at disease onset was 64.5 years in Generation 111, 43 years in Generation W, and 25 years in Generation V. In the genetic studies, none of the regions investigated showed linkage to the disease gene with a significant calculated log of odds ratio (LOD) score above three. Conclusion: The pattern of inheritance suggested that familial MD was autosomal dominant and exhibited incomplete expression of inner ear symptoms in some affected members. The decreasing age at onset of disease with succeeding generations could indicate anticipation. None of the hitherto-known DFNA loci, which has phenotypes hearing some resemblance to MD, had haplotypes in common with this large family affected by MD.
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