| 46171. |
- Kollberg, Gittan, 1963, et al.
(författare)
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Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.
- 2005
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Ingår i: Journal of neuropathology and experimental neurology. - 0022-3069. ; 64:2, s. 123-8
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Tidskriftsartikel (refereegranskat)abstract
- Mitochondrial DNA (mtDNA) mutations associated with rhabdomyolysis are rare but have been described in sporadic cases with mutations in the cytochrome b and cytochrome c oxidase (COX) genes and in 3 cases with tRNALeu mutation. We report a novel heteroplasmic G6708A nonsense mutation in the mtDNA COI gene encoding COX subunit I in a 30-year-old woman with muscle weakness, pain, fatigue, and one episode of rhabdomyolysis. Histochemical examination of muscle biopsy specimens revealed reduced COX activity in the majority of the muscle fibers (approximately 90%) and frequent ragged red fibers. Biochemical analysis showed a marked and isolated COX deficiency. Analysis of DNA extracted from single fibers revealed higher levels of the mutation in COX-deficient fibers (> 95%) compared with COX-positive fibers (1%-80%). The mutation was not detected in a skin biopsy, cultured myoblasts, or blood leukocytes. Nor was it identified in blood leukocytes from the asymptomatic mother, indicating a de novo mutation that arose after germ layer differentiation. Western blot analysis and immunohistochemical staining revealed that reduced levels of COX subunit I were accompanied by reduced levels of other mtDNA encoded subunits, as well as nuclear DNA encoded subunit IV, supporting the concept that COX subunit I is essential for the assembly of complex IV in the respiratory chain.
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| 46172. |
- Kollberg, Gittan, 1963, et al.
(författare)
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POLG1 mutations associated with progressive encephalopathy in childhood.
- 2006
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Ingår i: Journal of neuropathology and experimental neurology. - : Oxford University Press (OUP). - 0022-3069 .- 1554-6578. ; 65:8, s. 758-68
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Tidskriftsartikel (refereegranskat)abstract
- We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA polymerase gamma (Pol gamma), in 7 children with progressive encephalopathy from 5 unrelated families. The clinical features in 6 of the children included psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and ataxia compatible with Alpers-Huttenlocher syndrome. Three families harbored a previously reported A467T substitution, which was found in compound with the earlier described G848S or the W748S substitution or a novel R574W substitution. Two families harbored the W748S change in compound with either of 2 novel mutations predicted to give an R232H or M1163R substitution. Muscle morphology showed mitochondrial myopathy with cytochrome c oxidase (COX)-deficient fibers in 4 patients. mtDNA analyses in muscle tissue revealed mtDNA depletion in 3 of the children and mtDNA deletions in the 2 sibling pairs. Neuropathologic investigation in 3 children revealed widespread cortical degeneration with gliosis and subcortical neuronal loss, especially in the thalamus, whereas there were only subcortical neurodegenerative findings in another child. The results support the concept that deletions as well as depletion of mtDNA are involved in the pathogenesis of Alpers-Huttenlocher syndrome and add 3 new POLG1 mutations associated with an early-onset neurodegenerative disease.
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| 46173. |
- Kollberg, Gittan, 1963, et al.
(författare)
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Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy
- 2011
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Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966 .- 1873-2364. ; 21:2, s. 115-120
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Tidskriftsartikel (refereegranskat)abstract
- Myopathy with exercise intolerance and deficiency of iron sulphur cluster proteins is caused by an intronic IVS5+382 G > C mutation in ISCU, the gene encoding the iron sulphur cluster assembly protein (IscU). The mutation causes alternative splicing resulting in a truncated protein and severely reduced levels of IscU protein in muscle tissue. Disease manifestations include muscle fatigability, dyspnoea, cardiac palpitations and episodic myoglobinuria. Muscle tissue of these patients demonstrates marked histochemical succinate dehydrogenase deficiency and accumulation of iron in muscle fibres, which are morphological hallmarks of the disease. A biopsy specimen from a patient, two months after a severe attack of rhabdomyolysis, revealed regenerating muscle with normal succinate dehydrogenase activity and only minor iron accumulation, whereas another biopsy obtained nine years after the episode showed the typical hallmarks of the disease. The apparent explanation for the normal succinate dehydrogenase activity during regeneration was a markedly increased level of IscU protein in regenerating muscle tissue and an increase in normally spliced ISCU transcripts in the patient. The results have implications for diagnosis of the disease based on muscle biopsy findings and support the concept that an increase of normally spliced ISCU by RNA modulating therapy may be a therapeutic possibility for these patients.
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| 46174. |
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| 46175. |
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| 46176. |
- Kollén, Lena, 1960-, et al.
(författare)
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Physical functioning in older persons with dizziness : a population-based study
- 2017
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Ingår i: Aging Clinical and Experimental Research. - : Springer. - 1594-0667 .- 1720-8319. ; 29:2, s. 197-205
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Tidskriftsartikel (refereegranskat)abstract
- Background: Dizziness is one of the most prevalent symptoms in old age and tends to increase with age.Aims: To report physical functioning, health-related aspects and gender differences in elderly persons with and without dizziness in a population-based sample of 75-year-olds.Methods: A cross-sectional sample of 75-year-olds from Gothenburg, Sweden (n = 675, 398 women and 277 men) was examined by means of questionnaires and functional tests. The questions concerned dizziness/imbalance, physical activity level, walking habits, falls efficacy, number of falls, subjective health or general fatigue and medication. The tests included were self-selected and maximum gait speed, stair climbing capacity, one leg stance and grip strength.Results: More women than men reported dizziness/imbalance (40 vs 30 %, p < 0.001). Persons with dizziness, compared to those without dizziness, less often regularly exercised at a moderate intensity level (summer: 62 vs 74 %, p < 0.001; winter: 41 vs 51 %, p < 0.001), less often took a daily walk (p < 0.05), had lower scores on the FES(S) (p < 0.001), more often reported general fatigue (p < 0.001), more often had fallen in the previous year (40 vs 23 %, p < 0.001) and had a higher intake of medical drugs (4.6 vs 3.3, p < 0.001). They also performed worse regarding gait speed, stair climbing and one leg stance (p < 0.001), but there was no difference in grip strength.Conclusion: Older persons with dizziness are less physically active, have worse lower extremity function, are more often fallers and report lower self-rated health than persons without dizziness.
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| 46177. |
- Kollén, Lena, et al.
(författare)
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Static and dynamic balance and well-being after acute unilateral vestibular loss
- 2008
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Ingår i: Audiological Medicine. - : Informa UK Limited. - 1651-386X .- 1651-3835. ; 6:4, s. 265-270
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this trial was to evaluate long-term (after six months) effects of successful vestibular rehabilitation in patients with acute unilateral vestibular loss (AUVL) in relation to static and dynamic balance, hypertension, headache, disturbed sleep and physical exercise habits. A group of 42 patients were included. For comparison, an age and gender matched healthy reference group was used, consisting of 56 subjects. The assessments were static and dynamic balance performances with the Romberg test, a sharpened Romberg test (SREC), standing on one leg with eyes open/closed (SOLEO/SOLEC) and a 10-m walking test, with and without head movements. A questionnaire concerning the occurrence of hypertension, headache, disturbed sleep and physical exercise habits was also administered. The AUVL group walked significantly slower and took shorter steps (p<0.001) compared to the subjects in the reference group. Significantly impaired performances were also found in the AUVL group in SREC (p<0.01) and SOLEC (p<0.05) compared to the reference group. A significantly larger proportion of patients with AUVL (26%) used anti-hypertensive medication compared to the reference group (4%) (p<0.01). This study demonstrated that AUVL patients, after vestibular rehabilitation and compensation, still have long-term static and dynamic balance problems. We have also found that patients who have suffered from AUVL have a higher prevalence of hypertension compared to a reference group.
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| 46178. |
- Koller, Heiko, et al.
(författare)
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Characteristics of deformity surgery in patients with severe and rigid cervical kyphosis (CK) : results of the CSRS-Europe multi-centre study project
- 2018
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Ingår i: European spine journal. - : Springer Nature. - 0940-6719 .- 1432-0932. ; 28:2, s. 324-344
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION AND PURPOSE: Little information exists on surgical characteristics, complications and outcomes with corrective surgery for rigid cervical kyphosis (CK). To collate the experience of international experts, the CSRS-Europe initiated an international multi-centre retrospective study.METHODS: Included were patients at all ages with rigid CK. Surgical and patient specific characteristics, complications and outcomes were studied. Radiographic assessment included global and regional sagittal parameters. Cervical sagittal balance was stratified according to the CSRS-Europe classification of sagittal cervical balance (types A-D).RESULTS: Eighty-eight patients with average age of 58 years were included. CK etiology was ankylosing spondlitis (n = 34), iatrogenic (n = 25), degenerative (n = 9), syndromatic (n = 6), neuromuscular (n = 4), traumatic (n = 5), and RA (n = 5). Blood loss averaged 957 ml and the osteotomy grade 4.CK-correction and blood loss increased with osteotomy grade (r = 0.4/0.6, p < .01). Patients with different preop sagittal balance types had different approaches, preop deformity parameters and postop alignment changes (e.g. C7-slope, C2-7 SVA, translation). Correction of the regional kyphosis angle (RKA) was average 34° (p < .01). CK-correction was increased in patients with osteoporosis and osteoporotic vertebrae (POV, p = .006). 22% of patients experienced a major long-term complication and 14% needed revision surgery. Patients with complications had larger preop RKA (p = .01), RKA-change (p = .005), and postop increase in distal junctional kyphosis angle (p = .02). The POV-Group more often experienced postop complications (p < .0001) and revision surgery (p = .02). Patients with revision surgery had a larger RKA-change (p = .003) and postop translation (p = .04). 21% of patients had a postop segmental motor deficit and the risk was elevated in the POV-Group (p = .001).CONCLUSIONS: Preop patient specific, radiographic and surgical variables had a significant bearing on alignment changes, outcomes and complication occurrence in the treatment of rigid CK.
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| 46179. |
- Kolls, J. K., et al.
(författare)
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Interleukin-17 family members and inflammation
- 2004
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Ingår i: Immunity. ; 21:4
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Tidskriftsartikel (refereegranskat)abstract
- IL-17A was cloned more than 10 years ago and six IL-17 family members (IL-17A-F) have subsequently been described. IL-17A is largely produced by activated memory T lymphocytes but stimulates innate immunity and host defense. IL-17A and IL-17F both mobilize neutrophils partly through granulopoeisis and CXC chemokine induction, as well as increased survival locally. IL-17A and IL-17F production by T lymphocytes is regulated by IL-23 independent of T cell receptor activation. Increasing evidence shows that IL-17 family members play an active role in inflammatory diseases, autoimmune diseases, and cancer. This places IL-17 family members and their receptors as potential targets for future pharmacotherapy.
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| 46180. |
- Kolman, Krzysztof, 1986, et al.
(författare)
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Combined Nanocellulose/Nanosilica Approach for Multiscale Consolidation of Painting Canvases
- 2018
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Ingår i: ACS Applied Nano Materials. - : American Chemical Society (ACS). - 2574-0970. ; 1:5, s. 2036-2044
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Tidskriftsartikel (refereegranskat)abstract
- The restoration of painting canvases is a complex problem that, because of the hierarchical nature of the canvas, requires intervention at several length scales. We propose an approach combining polyelectrolyte-treated silica nanoparticles (SNP) and cellulose nanofibrils (CNF) for canvas consolidation. The formulations, applied on model degraded canvases, gave a total weight increase of
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