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| 2. |
- Gilbert, M. Thomas P., et al.
(författare)
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Whole-genome shotgun sequencing of mitochondria from ancient hair shafts
- 2007
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 317:5846, s. 1927-1930
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Tidskriftsartikel (refereegranskat)abstract
- Although the application of sequencing-by-synthesis techniques to DNA extracted from bones has revolutionized the study of ancient DNA, it has been plagued by large fractions of contaminating environmental DNA. The genetic analyses of hair shafts could be a solution: We present 10 previously unexamined Siberian mammoth (Mammuthus primigenius) mitochondrial genomes, sequenced with up to 48-fold coverage. The observed levels of damage-derived sequencing errors were lower than those observed in previously published frozen bone samples, even though one of the specimens was >50,000 14C years old and another had been stored for 200 years at room temperature. The method therefore sets the stage for molecular-genetic analysis of museum collections.
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| 3. |
- Mattsson, Niklas, 1979, et al.
(författare)
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Reduced cerebrospinal fluid BACE1 activity in multiple sclerosis.
- 2009
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Ingår i: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1352-4585 .- 1477-0970. ; 15:4, s. 448-54
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Cell and animal experiments have shown that beta-site APP-cleaving enzyme 1 (BACE1) may be involved in myelination. OBJECTIVE: Here, we assess the association of cerebrospinal fluid (CSF) BACE1 activity with multiple sclerosis (MS). METHODS: BACE1 activity and levels of secreted amyloid precursor protein (APP) and amyloid-beta (Abeta) isoforms were analyzed in CSF from 100 patients with MS and 114 neurologically healthy controls. Patients with systemic lupus erythematosus (SLE), 26 with and 41 without cerebral engagement, were also included to enable comparisons with regards to another autoimmune disease. A subset of patients with MS and controls underwent a second lumbar puncture after 10 years. RESULTS: MS patients had lower CSF BACE1 activity than controls (P = 0.03) and patients with cerebral SLE (P < 0.001). Patients with cerebral SLE had higher BACE1 activity than any other group (P < 0.05 for all comparisons). BACE1 activity correlated with the different amyloid markers in all study groups. BACE1 activity decreased over 10 years in the MS group (P = 0.039) and correlated weakly with clinical disease severity scores in an inverse manner. CONCLUSIONS: These results suggest an involvement of BACE1 in the MS disease process.
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| 5. |
- Wasay, M, et al.
(författare)
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Multiple sclerosis in Pakistan
- 2007
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Ingår i: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1352-4585 .- 1477-0970. ; 13:5, s. 668-669
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Tidskriftsartikel (refereegranskat)abstract
- We describe retrospective data from the largest series of patients (n=142) with multiple sclerosis (MS) from Pakistan. Mean age at onset was 27 years, with a female to male ratio of 1.45:1. The disease onset was polysymptomatic in 75% patients. Motor weakness was the most common onset symptom (70%), followed by sensory symptoms (45%). Optico-spinal type of MS was seen in only 3% of patients The courzse was relapsing-remitting (RR) in 81%, primary progressive (PP) in 21%, and secondary progressive (SP) in 4% of patients. Almost three-fourths of the patients were moderately (45%) or severely (31%) disabled at the time of evaluation. Two-thirds of patients with severe disability had a mean disease duration of only 5.2 years. In conclusion, MS is not uncommon in Pakistan, and many patients were found to have severe disability despite short disease duration. Multiple Sclerosis 2007; 13: 668-669. http://msj.sagepub.com
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| 6. |
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| 7. |
- Berg, J, et al.
(författare)
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Costs and quality of life of multiple sclerosis in Sweden
- 2006
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Ingår i: The European journal of health economics : HEPAC : health economics in prevention and care. - : Springer Science and Business Media LLC. - 1618-7598. ; 7 Suppl 2, s. S75-85
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Tidskriftsartikel (refereegranskat)
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| 8. |
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| 9. |
- Bergendal, G., et al.
(författare)
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Selective decline in information processing in subgroups of multiple sclerosis : An 8-year longitudinal study
- 2007
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Ingår i: European Neurology. - : S. Karger AG. - 0014-3022 .- 1421-9913. ; 57:4, s. 193-202
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Tidskriftsartikel (refereegranskat)abstract
- Multiple sclerosis (MS) is an inflammatory and degenerative disease of the central nervous system (CNS) that causes white matter and cortical lesions over many years. The CNS is selectively affected by the disease with a great variety of symptoms between patients. In this study, we describe the impact on various aspects of cognition over an 8-year follow-up period in 31 consecutive MS patients subgrouped as relapsing remitting (RR) MS, secondary progressive (SP) MS, and primary progressive (PP) MS. Results showed a differential pattern of cognitive decline already at baseline in speed of information processing. During the follow-up, a pronounced decline occurred in speed of information processing, finger-motor speed, copying geometrical designs, episodic memory, and visuospatial short-term memory. A striking difference was observed between a marked decline in visual reaction time, whereas no significant change was seen in auditory reaction time. In contrast, there was no time-related decline in verbal abilities. However, an initial marked cognitive impairment predicted further cognitive decline over the 8-year follow-up. Information-processing tests were found to be an especially strong predictor of long-term cognitive decline. In addition, high EDSS score at followup was associated with decline in information processes. Results also showed that SP-MS patients deteriorated significantly more than the other two groups, particularly in visual compared to auditory information processing. To conclude, cognitive decline appeared particularly in SP-MS patients and in visual information processing.
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