| 1. |
- Anniko, Matti, et al.
(author)
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Örat
- 2001. - 2
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In: Öron, näs- och halssjukdomar, huvud- och halskirurgi. - Stockholm : Liber. - 9147048956 ; , s. 9-103
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Book chapter (other academic/artistic)
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| 2. |
- Astuto, L. M., et al.
(author)
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CDH23 mutation and phenotype heterogeneity : a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
- 2002
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 71:2, s. 262-275
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Journal article (peer-reviewed)abstract
- Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia.
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| 3. |
- Astuto, Lisa M., et al.
(author)
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Genetic heterogeneity of Usher syndrome : analysis of 151 families with Usher type 1
- 2000
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 67:6, s. 1569-1574
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Journal article (peer-reviewed)abstract
- Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG chi(2)((1)) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.
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| 4. |
- Bruder, CEG, et al.
(author)
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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
- 2001
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In: Human Molecular Genetics. - Oxford, United Kingdom : Oxford University Press. - 0964-6906 .- 1460-2083. ; 1, s. 271-
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Journal article (peer-reviewed)abstract
- Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2 tumor suppressor (merlin/schwannomin) has been cloned and extensively analyzed for mutations in patients with different clinical variants of the disease. Correlation between the type of the NF2 gene mutation and the patient phenotype has been suggested to exist. However, several independent studies have shown that a fraction of NF2 patients with various phenotypes have constitutional deletions that partly or entirely remove one copy of the NF2 gene. The purpose of this study was to examine a 7 Mb interval in the vicinity of the NF2 gene in a large series of NF2 patients in order to determine the frequency and extent of deletions. A total of 116 NF2 patients were analyzed using high-resolution array-comparative genomic hybridization (CGH) on an array covering at least 90% of this region of 22q around the NF2 locus. Deletions, which remove one copy of the entire gene or are predicted to truncate the schwannomin protein, were detected in 8 severe, 10 moderate and 6 mild patients. This result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype. This work also demonstrates the general usefulness of the array-CON methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.
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| 5. |
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| 6. |
- Ekblad, S., et al.
(author)
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Disturbances in postural balance are common in postmenopausal women with vasomotor symptoms
- 2000
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In: Climacteric. - : Informa UK Limited. - 1369-7137 .- 1473-0804. ; 3:3, s. 192-198
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Journal article (peer-reviewed)abstract
- OBJECTIVES: To establish the prevalence of unsteadiness and rotatory vertigo in peri- and postmenopausal women, and whether balance disturbances are more common in women with vasomotor symptoms and without hormone replacement therapy (HRT). METHOD: A validated questionnaire was sent to all 1523 women aged 54 or 55 years in Linköping, Sweden. RESULTS: Daily or weekly unsteadiness was reported by 5%, and daily or weekly rotatory vertigo by 4% of all women. The frequency of vasomotor symptoms correlated with reported unsteadiness (rs = 0.23, p < 0.001). Fourteen per cent of women with daily vasomotor symptoms reported weekly or daily unsteadiness, compared with 3% of those without vasomotor symptoms (odds ratio (OR) 7.58, 95% confidence interval (CI) 3.72-15.45). The frequency of vasomotor symptoms correlated with rotatory vertigo (rs = 0.19, p < 0.001). Ten per cent of women with daily vasomotor symptoms reported weekly or daily rotatory vertigo, compared with 2% of women without vasomotor symptoms (OR 5.21, 95% CI 1.07-25.52). No correlation was seen between vasomotor symptoms and falls. Users of HRT had the same prevalence of balance disturbances as non-users. CONCLUSIONS: Women with frequent vasomotor symptoms seem to run a greater risk of unsteadiness and rotatory vertigo than do women without symptoms. This association may not be explained by means of a cross-sectional study, but there might exist a causal connection between vasomotor symptoms and balance disturbances.
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| 7. |
- Fields, Randall R., et al.
(author)
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Usher syndrome type III : revised genomic structure of the USH3 gene and identification of novel mutations
- 2002
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 71:3, s. 607-617
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Journal article (peer-reviewed)abstract
- Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa. The disease gene was localized to 3q25 and recently was identified by positional cloning. In the present study, we have revised the structure of the USH3 gene, including a new translation start site, 5′ untranslated region, and a transcript encoding a 232–amino acid protein. The mature form of the protein is predicted to contain three transmembrane domains and 204 residues. We have found four new disease-causing mutations, including one that appears to be relatively common in the Ashkenazi Jewish population. We have also identified mouse (chromosome 3) and rat (chromosome 2) orthologues, as well as two human paralogues on chromosomes 4 and 10.
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| 8. |
- Grahn Kronhed, Ann-Charlotte, et al.
(author)
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The effect of short-term balance training on community-dwelling older adults
- 2001
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In: Journal of Aging and Physical Activity. - 1063-8652 .- 1543-267X. ; 9:1, s. 19-31
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Journal article (peer-reviewed)abstract
- This study evaluated a balance-training program's influence in healthy older adults. Fifteen community-dwelling participants aged 70Ð75 years were randomized to an exercise group, and 15 gender- and age-matched participants, to a control group. The 9-week training program comprised ordinary-life balance, vestibular-habituation, and ball exercises and station training. Clinical balance tests were conducted before and after training. Tests that showed significant improvement in the exercise group after the intervention included standing on the right leg with eyes closed, standing on the right leg and the left leg while turning the head and walking 30 m. Significant between-group differences were found at posttest. A significant decrease was seen in the control group in the walking-forward test, and this change was significantly different between groups. The study indicates that balance performance in healthy older adults might be improved by balance training including exercises that stimulate multiple sensory systems and their central integration.
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| 9. |
- Gustavsson, Ann-Sofi, et al.
(author)
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Changes in balance performance in physically active elderly people aged 73-80
- 2000
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In: Scandinavian Journal of Rehabilitation Medicine. - : Informa UK Limited. - 0036-5505 .- 1940-2228. ; 32:4, s. 168-172
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Journal article (peer-reviewed)abstract
- In our hospital in 1989 a series of 30 healthy elderly people participated in a study to evaluate the effect of physical training on improving balance. Thereafter, the majority of the people in this group continued with some kind of balance training. Seven years later we followed up 17 of the people who had participated in the original study. We wanted to evaluate the balance performance of these physically active elderly people (mean age 80.5 years) and compare it with their balance performance 7 years previously. Balance was found to be significantly impaired compared with 1989 in four out of six static balance tests. The time required to walk 30 m had increased significantly. The subjective ratings of vertigo and balance problems had not changed significantly, neither had the number of correct steps when walking forwards on one line and backwards between two lines. In dynamic posturography, the test with sway-referenced visual cues showed improved postural control, but no change in sway was seen in the other five sensory conditions. When sudden backward translations of the platform occurred, increased latencies of force response were seen.
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| 10. |
- Kähäri, Kim, et al.
(author)
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Assessment of hearing and hearing disorders in rock/jazz musicians : Evaluación de la audición y de los problemas auditivos en músicos de rock y jazz
- 2003
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In: International Journal of Audiology. - : Taylor & Francis. - 1499-2027 .- 1708-8186. ; 42:5, s. 279-288
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Journal article (peer-reviewed)abstract
- The aim of this study was to assess hearing and hearing disorders among rock/jazz musicians. One hundred and thirty-nine (43 women and 96 men) musicians participated. The results are based on pure-tone audiometry and questionnaire responses. According to our definition of hearing loss, tinnitus, hyperacusis, distortion and/ or diplacusis as hearing disorders, we found disorders in 74% of the rock/jazz musicians studied. Hearing loss, tinnitus and hyperacusis were most common, and the latter two were found significantly more frequently than in different reference populations. The women showed bilateral, significantly better hearing thresholds at 3-6 kHz than the men. Hyperacusis, and the combination of both hyperacusis and tinnitus, were found to be significantly more frequent among women than among men. Hearing loss and tinnitus were significantly more common among men than among women. It is important to evaluate all kinds of hearing problems (other than hearing loss) in musicians, since they represent an occupational group especially dependent on optimal, functional hearing. On the basis of our results, we suggest that hearing problems such as tinnitus, hyperacusis, distortion and/ or diplacusis should, in addition to hearing loss, be defined as hearing disorders.
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