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- Tajsharghi, Homa, 1968, et al.
(författare)
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Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
- 2003
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Ingår i: Annals of neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 54:4, s. 494-500
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Tidskriftsartikel (refereegranskat)abstract
- Myosin constitutes the major part of the thick filaments in the contractile apparatus of striated muscle. MYH7 encodes the slow/beta-cardiac myosin heavy chain (MyHC), which is the main MyHC isoform in slow, oxidative, type 1 muscle fibers of skeletal muscle. It is also the major MyHC isoform of cardiac ventricles. Numerous missense mutations in the globular head of slow/beta-cardiac MyHC are associated with familial hypertrophic cardiomyopathy. We identified a missense mutation, Arg1845Trp, in the rod region of slow/beta-cardiac MyHC in patients with a skeletal myopathy from two different families. The myopathy was characterized by muscle weakness and wasting with onset in childhood and slow progression, but no overt cardiomyopathy. Slow, oxidative, type 1 muscle fibers showed large inclusions consisting of slow/beta-cardiac MyHC. The features were similar to a previously described entity: hyaline body myopathy. Our findings indicate that the mutated residue of slow/beta-cardiac MyHC is essential for the assembly of thick filaments in skeletal muscle. We propose the term myosin storage myopathy for this disease.
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- Jönsson, Henrik, et al.
(författare)
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Controversial significance of early S100B levels after cardiac surgery
- 2004
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Ingår i: BMC Neurology. - : Springer Science and Business Media LLC. - 1471-2377. ; 4:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundThe brain-derived protein S100B has been shown to be a useful marker of brain injury of different etiologies. Cognitive dysfunction after cardiac surgery using cardiopulmonary bypass has been reported to occur in up to 70% of patients. In this study we tried to evaluate S100B as a marker for cognitive dysfunction after coronary bypass surgery with cardiopulmonary bypass in a model where the inflow of S100B from shed mediastinal blood was corrected for.Methods56 patients scheduled for coronary artery bypass grafting underwent prospective neuropsychological testing. The test scores were standardized and an impairment index was constructed. S100B was sampled at the end of surgery, hourly for the first 6 hours, and then 8, 10, 15, 24 and 48 hours after surgery. None of the patients received autotransfusion.ResultsIn simple linear analysis, no significant relation was found between S100B levels and neuropsychological outcome. In a backwards stepwise regression analysis the three variables, S100B levels at the end of cardiopulmonary bypass, S100B levels 1 hour later and the age of the patients were found to explain part of the neuropsychological deterioration (r = 0.49, p < 0.005).ConclusionsIn this study we found that S100B levels 1 hour after surgery seem to be the most informative. Our attempt to control the increased levels of S100B caused by contamination from the surgical field did not yield different results. We conclude that the clinical value of S100B as a predictive measurement of postoperative cognitive dysfunction after cardiac surgery is limited.
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- Forsberg-Wärleby, Gunilla, 1953, et al.
(författare)
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Spouses of first-ever stroke victims: sense of coherence in the first phase after stroke
- 2002
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Ingår i: J Rehabil Med. - 1650-1977. ; 34:3, s. 128-33
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Tidskriftsartikel (refereegranskat)abstract
- According to Antonovsky, the individual's sense of coherence is assumed to be crucial in coping with stressful life events. The purpose of this study was to investigate the associations between the sense of coherence of the spouses of stroke victims, the objective severity of the stroke and the spouses' perception of life satisfaction, psychological well-being and cognitive image of life in the future in the first phase after stroke. Eighty-three consecutively enrolled spouses to first-ever stroke victims < 75 years participated. Multiple correlations were done to study the association between Antonovsky's 29-item Sense of Coherence scale and the objective impairments of the stroke victim, the Life Satisfaction Checklist, the "view of the future" and the Psychological General Well-being Index. The sense of coherence was significantly associated with satisfaction with life as a whole before stroke (p < 0.001), partnership (p = 0.002), sexual life (p = 0.005), family life (p < 0.001) and financial situation (p = 0.001). The severity of the impairments of the stroke victims was not significantly associated with the spouses' sense of coherence. However, the sense of coherence was significantly associated with the perception of the future life situation (p = 0.006). The sense of coherence was also significantly associated with the perception of positive well-being (p = 0.007), self-control (p = 0.009), general health (p = 0.009) and vitality (p = 0.002) at the present, whereas the association with anxiety and depressed mood were not statistical significant. In the experience of a stressful life event such as stroke, satisfaction with general life, close relationships and the socio-economic situation were significantly associated with the spouse's sense of coherence. Spouses with a low sense of coherence were more likely to have low psychological well-being and a more pessimistic view of their life in the future.
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- Lindén, Thomas, 1962, et al.
(författare)
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Cognitive impairment and dementia 20 months after stroke.
- 2004
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Ingår i: Neuroepidemiology. - : S. Karger AG. - 0251-5350 .- 1423-0208. ; 23:1-2, s. 45-52
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND PURPOSE: Dementia is common after stroke, but the dementia syndrome does not cover the whole spectrum of cognitive impairment. Our aim was to quantify and compare dementia and cognitive impairments in elderly patients 1.5 years after stroke and a matched normal population. SUBJECTS AND METHODS: We examined dementia and cognitive impairments in 149 out of an initial total of 243 acute stroke patients after a mean 20 months. Inclusion criteria were age > or =70 years, not living in an institution and no previous cerebral lesion. The patients' mean age was 81 years. Five controls matched by age and gender and fulfilling the same exclusion criteria were selected for each patient (n = 745) from a population-based survey in the same area. Dementia was diagnosed according to the DSM-III-R criteria, and impairments in different dimensions of cognitive function were assessed. RESULTS: The prevalence of dementia was 28% in the stroke patients and 7.4% in the controls (OR 4.7; 95% CI 3.0-7.5). Seventy-two percent of the patients had cognitive impairments compared to 36% in the controls. Cognitive impairments were more common in nondemented stroke patients than in nondemented controls: 61 vs. 31% (OR 3.5; 95% CI 2.3-5.3). The risk increase attributable to stroke was highest for patients below 80 years of age. CONCLUSIONS: Stroke confers an increased risk of dementia and cognitive impairments in the elderly, especially in the younger ones. Apraxia is the most frequent neuropsychiatric impairment after stroke. The concept of dementia does not describe cognitive impairments well, since it underestimates their extent not only after stroke but also in normal ageing.
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- Capala, J, et al.
(författare)
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Boron neutron capture therapy for glioblastoma multiforme : Clinical studies in Sweden
- 2003
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Ingår i: Journal of Neuro-Oncology. - 1573-7373. ; 62:1, s. 135-144
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Tidskriftsartikel (refereegranskat)abstract
- A boron neutron capture therapy (BNCT) facility has been constructed at Studsvik, Sweden. It includes two filter/moderator configurations. One of the resulting neutron beams has been optimized for clinical irradiations with a filter/moderator system that allows easy variation of the neutron spectrum from the thermal to the epithermal energy range. The other beam has been designed to produce a large uniform field of thermal neutrons for radio-biological research. Scientific operations of the Studsvik BNCT project are overseen by the Scientific Advisory Board comprised of representatives of major universities in Sweden. Furthermore, special task groups for clinical and preclinical studies have been formed to facilitate collaboration with academia. The clinical Phase II trials for glioblastoma are sponsored by the Swedish National Neuro-Oncology Group and, presently, involve a protocol for BNCT treatment of glioblastoma patients who have not received any therapy other than surgery. In this protocol, p-boronophenylalanine (BPA), administered as a 6-h intravenous infusion, is used as the boron delivery agent. As of January 2002, 17 patients were treated. The 6-h infusion of 900 mg BPA/kg body weight was shown to be safe and resulted in the average blood-boron concentration of 24 μg/g (range: 15-32 μg/g) at the time of irradiation (approximately 2-3 h post-infusion). Peak and average weighted radiation doses to the brain were in the ranges of 8.0-15.5 Gy(W) and 3.3-6.1 Gy(W), respectively. So far, no severe BNCT-related acute toxicities have been observed. Due to the short follow-up time, it is too early to evaluate the efficacy of these studies.
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