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- Vaziri-Sani, Fariba, et al.
(författare)
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Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome
- 2006
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Ingår i: Kidney International. - : Nature Publishing Group. - 0085-2538 .- 1523-1755. ; 69:6, s. 981-988
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Tidskriftsartikel (refereegranskat)abstract
- We investigated the phenotypic expression of factor H mutations in two patients with atypical hemolytic uremic syndrome (HUS). Factor H in serum was assayed by rocket immunoelectrophoresis, immunoblotting, and double immunodiffusion and in tissue by immunohistochemistry. Functional activity was analyzed by hemolysis of sheep erythrocytes and binding to endothelial cells. A homozygous mutation in complement control protein (CCP) domain 10 of factor H was identified in an adult man who first developed membranoproliferative glomerulonephritis and later HUS. C3 levels were very low. The patient had undetectable factor H levels in serum and a weak factor H 150 kDa band. Double immunodiffusion showed partial antigenic identity with factor H in normal serum owing to the presence of factor H-like protein 1. Strong specific labeling for factor H was detected in glomerular endothelium, mesangium and in glomerular and tubular epithelium as well as in bone marrow cells. A heterozygous mutation in CCP 20 of factor H was found in a girl with HUS. C3 levels were moderately decreased at onset. Factor H levels were normal and a normal 150 kDa band was present. Double immunodiffusion showed antigenic identity with normal factor H. Factor H labeling was minimal in the renal cortex. Factor H dysfunction was demonstrated by increased sheep erythrocyte hemolysis and decreased binding to endothelial cells. In summary, two different factor H mutations associated with HUS were examined: in one, factor H accumulated in cells, and in the other, membrane binding was reduced.
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- Egge, A, et al.
(författare)
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Outcome 1 year after aneurysmal subarachnoid hemorrhage: relation between cognitive performance and neuroimaging
- 2005
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Ingår i: Acta Neurologica Scandinavica. - : Hindawi Limited. - 1600-0404 .- 0001-6314. ; 112:2, s. 76-80
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Tidskriftsartikel (refereegranskat)abstract
- Objective - To assess the cognitive impairment and the association between neuropsychological measures and neuroimaging 1 year after aneurysmal subarachnoid hemorrhage (SAH). Method - Forty-two patients were examined clinically according to Glasgow Outcome Scale (GOS). Computed tomography (CT), single photon emission computed tomography (SPECT) and neuropsychological examination were performed. Results - There were no association between GOS and cognitive impairment index based on the neuropsychological examination. CT showed no sign of cerebral ischemia in 17 (40%) and low attenuating areas indicating cerebral infarction(s) in 25 (60%) patients. A significant correlation (P = 0.01) was observed between the cognitive impairment index and the SPECT index (r = 0.6). SPECT measurement was the only independent predictor for cognitive impairment. Conclusion - GOS is a crude outcome measure and patients classified with good recoveries may have significant cognitive deficits. Neuropsychological examination is the preferred method for outcome evaluation as this method specifically addresses the disabilities affecting patients' everyday life.
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- Egge, A, et al.
(författare)
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Serial single-photon emission computed tomographic and transcranial doppler measurements for evaluation of vasospasm after aneurysmal subarachnoid hemorrhage
- 2005
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Ingår i: Neurosurgery. - 0148-396X. ; 57:2, s. 237-248
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To assess the clinical value of serial single photon-emission computed tomographic (SPECT) measurements after aneurysmal subarachnoid hemorrhage (SAH). Methods: Thirty-two patients were studied prospectively during the first 26 days after SAH with repeated SPELT measurements; clinical examinations, and transcranial Doppler recordings. Time trends were analyzed with a general linear model. A final SPECT measurement was performed after 1 year. Results: A mean of 2.6 (range, 1-5) SPECT measurements revealed a significant (P=0.001) quadratic curve consistent with initial hypoperfusion and then with hyperperfusion during the acute stage. SPELT findings were significantly associated with transcranial Doppler recordings (P=0.016) and clinical assessments (P=0.008). Patients fulfilling clinical and transcranial Doppler criteria for vasospasm demonstrated a more pronounced relative hypoperfusionj hyperperfusion time course. A multivariate logistic regression analysis identified SPECT measurements obtained during Days 7 to 14 after the SAH as the only independent predictor (beta=0.042, P=0.02) for impaired perfusion after 1 year. Conclusion: Serial SPECT measurements after aneurysmal SAH demonstrate that regional changes in cerebral perfusion follow a nonlinear time trend, and repeated measurements are necessary. This observation, as well as the low feasibility of SPECT, restricts the clinical value of such measurements.
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