| 1. |
|
|
| 2. |
- Balciuniene, Jorune, et al.
(författare)
-
Alpha-tectorin involvement in hearing disabilities : One gene-two phenotypes
- 1999
-
Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 105:3, s. 211-216
-
Tidskriftsartikel (refereegranskat)abstract
- The human alpha-tectorin (TECTA) gene has recently been cloned and proposed to be involved in autosomal dominant non-syndromic hearing impairment (NSHI) in two families linked to the DFNA12 locus. We have studied a Swedish pedigree with autosomal dominant NSHI with possible digenic inheritance of the disease, involving locus DFNA12 in chromosome 11 and locus DFNA2 in chromosome 1. Mutation analysis of the TECTA gene in this family has identified eight nucleotide substitutions indicating that TECTA is highly polymorphic. One of the changes results in a cysteine to serine (C 1057 S) mutation, in the zonadhesin domain of TECTA; this segregates with the disease haplotype on chromosome 11 and is not present in a control population. The mutation results in the replacement of a cysteine in one of the repeats of the zonadhesin/Von Willebrand domain of the protein and might cause a change in the crosslinking of the polypeptide. These findings add support to the involvement of TECTA in hearing disabilities. However, the three families carrying different TECTA mutations also show phenotypic differences: the hearing loss ranges from prelingual to progressive with late onset. The explanation for the different phenotypes and some clues regarding the functions of TECTA may lie in the localization of the mutations in the different modules of the protein. Another possibility is that the phenotype in the Swedish family is the result of two defective genes.
|
|
| 3. |
- Balciuniene, Jorune, et al.
(författare)
-
Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family
- 1998
-
Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 63:3, s. 786-93
-
Tidskriftsartikel (refereegranskat)abstract
- We investigated a Swedish family with nonsyndromic progressive bilateral sensorineural hearing loss. Thirteen candidate loci for autosomal dominant nonsyndromic hearing loss were tested for linkage in this family. We found significant LOD scores (>3) for markers at candidate locus DFNA12 (11q22-q24) and suggestive LOD scores (>2) for markers at locus DFNA2 (1p32). Our results for markers on chromosome 11 narrowed down the candidate region for the DFNA12 locus. A detailed analysis of the phenotypes and haplotypes shared by the affected individuals supported the notion that two genes segregated together with hearing impairment in the family. Severely affected family members had haplotypes linked to the disease allele on both chromosomes 1 and 11, whereas individuals with milder hearing loss had haplotypes linked to the disease allele on either chromosome 1 or chromosome 11. These observations suggest an additive effect of two genes, each gene resulting in a mild and sometimes undiagnosed phenotype, but both together resulting in a more severe phenotype.
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
- Egebäck, Karl-Erik, et al.
(författare)
-
Research on a Scania 11 liter ethanol fueled bus engine
- 1996
-
Rapport (övrigt vetenskapligt/konstnärligt)abstract
- This report presents research carried out on an alcohol fueled bus engine. The engine used was a six cylinder 11 liter compression ignition turbo- charged engine with an inter cooler. The research program included studies of the impact on the emissions when changing different engine components and different settings of the engine. A study of the impact on the engine performance and emissions when using different fuel compositions was also carried out. During the course of the work, the engine was equipped with oxidation catalysts of two different types, one of which was more efficient than the other concerning the oxidation of unburnt fuel related components. One of the main purposes of the research was to improve the emission characteristics of the engine by an optimization of the engine and its setting. The exhaust emissions were thoroughly characterized with respect to both regulated and unregulated emissions
|
|
| 8. |
|
|
| 9. |
- Gustafsson, L., et al.
(författare)
-
Low efficiency of cytologic screening for cancer in situ of the cervix in older women
- 1995
-
Ingår i: International Journal of Cancer. - 0020-7136 .- 1097-0215. ; 63:6, s. 804-809
-
Tidskriftsartikel (refereegranskat)abstract
- Cytologic screening for cervical cancer has proven to be beneficial in many countries, although the value of this intervention in women older than 50 years remains controversial. The purpose of this study was to investigate the efficiency of detecting cancer in situ by means of a cytologic smear at different ages, with special emphasis on the benefit of screening in women above the age of 50. We analyzed 466,275 smears taken in an open cohort of 118,890 women in Sweden between 1969 and 1988. The number of cancers in situ detected per 1,000 smears, the detection ratio, was used as an outcome measure in univariate analyses and in multivariate regression models. Cancer in situ was detected in 1,076 women in the study cohort. The detection ratio peaked at ages 30 to 34 and decreased heavily during the next 15 years of age. The efficiency of taking smears at ages above 50 was only 20 per cent (OR, 0.19; 95% CI, 0.14-0.26) of that at ages 30 to 34. These results were not changed when adjusting for time period and time interval since the previous smear. In spite of a high incidence of invasive cervical cancer in older women, the benefit of cytologic screening to detect cancer in situ above the age of 50 is uncertain.
|
|
| 10. |
|
|
