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- Kerje, S., et al.
(författare)
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The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion polymorphisms in the PMEL17 gene
- 2004
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Ingår i: Genetics. - : Oxford University Press (OUP). - 0016-6731 .- 1943-2631. ; 168:3, s. 1507-1518
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Tidskriftsartikel (refereegranskat)abstract
- Dominant white, Dun, and Smoky are alleles at the Dominant white locus, which is one of the major loci affecting plumage color in the domestic chicken. Both Dominant white and Dun inhibit the expression of black eumelanin. Smoky arose in a White Leghorn homozygous for Dominant white and partially restores pigmentation. PMEL17 encodes a melanocyte-specific protein and was identified as a positional candidate gene due to its role in the development of eumelanosomes. Linkage analysis of PMEL17 and Dominant while using a red jungle fowl/White Leghorn intercross revealed no recombination between these loci. Sequence analysis showed that the Dominant white allele was exclusively associated with a 9-bp insertion in exon 10, leading to an insertion of three amino acids in the PMEL17 transmembrane region. Similarly, a deletion of five amino acids in the transmembrane region occurs in the protein encoded by Dun. The Smoky allele shared the 9-bp insertion in exon 10 with Dominant white, as expected from its origin, but also had a deletion of 12 nucleotides in exon 6, eliminating four amino acids from the mature protein. These mutations are, together with the recessive silver mutation in the mouse, the only PMEL17 mutations with phenotypic effects that have been described so far in any species.
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| 3. |
- Omdal, R, et al.
(författare)
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Respiratory arrest in systemic lupus erythematosus due to phrenic nerve neuropathy
- 2004
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Ingår i: Lupus. - : SAGE Publications. - 0961-2033 .- 1477-0962. ; 13:10, s. 817-819
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Tidskriftsartikel (refereegranskat)abstract
- Diaphragmatic weakness in patients with systemic lupus erythematosus (SLE) is a controversial issue and is claimed to have a neuropathic, myopathic or unknown pathogenesis. In this patient a predominantly motor neuropathy with diaphragmatic paralysis due to axonal involvement of the phrenic nerve was discovered and successfully treated with immunosuppressive drugs.
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| 9. |
- Hansen, R., et al.
(författare)
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Fewer accidents and better maintenance with active wheelchair check-ups: a randomized controlled clinical trial
- 2004
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Ingår i: Clin Rehabil. - 0269-2155 .- 0269-2155. ; 18:6, s. 631-9
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate whether active intervention using a compiled checklist for wheelchair check-ups increases user satisfaction and/or decreases accidents, near accidents and pressure sores. DESIGN: A randomized controlled trial comparing active intervention versus standard intervention for prescribed, manually propelled wheelchairs. SETTING: Patients within primary health care of Boras and Bollebygd municipalities, a mixed urban and rural population. SUBJECTS: Users of manually propelled wheelchairs over 16 years of age. INTERVENTIONS: The accident rate, extent of pressure sores, number and extent of repairs, reconditioning, adjustments as well as user satisfaction were measured initially and at one year. In the standard intervention, the user and carer were encouraged to initiate contact when necessary. In the active intervention, an occupational therapist performed a scheduled, thorough check-up of the wheelchair, following a compiled checklist for safety, comfort and positioning, manoeuvrability and transportation. RESULTS: Of 253 registered wheelchair users, 216 were suitable and randomized. In the active intervention group, 99% (95% confidence interval 96-100%) of the inspected wheelchairs required maintenance. The incidence of accidents was unchanged in the standard intervention group, but decreased to 'no accidents' in the active intervention group (p = 0.03). User satisfaction was not affected by the active intervention. CONCLUSION: Most wheelchair users are unable to determine on their own when adjustments are needed. An active check-up on manually propelled wheelchairs seems to reduce accidents. More information is available at http://www.wheelchair.se
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