| 41. |
- Linnankivi, T, et al.
(författare)
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Cerebroretinal microangiopathy with calcifications and cysts.
- 2006
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 67:8, s. 1437-43
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Extensive cerebral calcifications and leukoencephalopathy have been reported in two rare disorders Coats plus and leukoencephalopathy with calcifications and cysts. In the latter, a progressive formation of parenchymal brain cysts is a special feature, whereas Coats plus is characterized by intrauterine growth retardation, bilateral retinal telangiectasias and exudations (Coats disease), sparse hair, and dysplastic nails without cyst formation. METHODS: We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy. We reviewed clinical, ophthalmologic, radiologic and neuropathologic data of seven deceased patients and studied five patients prospectively. RESULTS: Eleven patients were small for gestational age; the other symptoms emerged from infancy to adolescence. All patients had neurologic symptoms including seizures, spasticity, dystonia, ataxia, and cognitive decline. Progressive intracerebral calcifications involved deep gray nuclei, brainstem, cerebral and cerebellar white matter, and dentate nuclei and were accompanied by diffuse white matter signal changes and, in five patients, cerebral cysts. Eleven patients had retinal telangiectasias or angiomas. Additional features were skeletal and hematologic abnormalities, intestinal bleeding, and poor growth. Neuropathologic examination showed extensive calcinosis and abnormal small vessels with thickened, hyalinized wall and reduced lumen. CONCLUSIONS: Our data suggest that Coats plus syndrome and leukoencephalopathy with calcifications and cysts belong to the same spectrum. The primary abnormality seems to be an obliterative cerebral angiopathy involving small vessels, leading to dystrophic calcifications via slow necrosis and finally to formation of cysts and secondary white matter abnormalities.
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| 42. |
- Matsunaga, N, et al.
(författare)
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Advanced glycation end product is implicated in amyloid-related kidney complications
- 2005
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Ingår i: Scandinavian Journal of Clinical and Laboratory Investigation. - : Informa Healthcare. - 0036-5513 .- 1502-7686. ; 65:4, s. 263-272
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Tidskriftsartikel (refereegranskat)abstract
- Background. Kidney failure is a common complication in familial amyloidotic polyneuropathy (FAP). It has been suggested that advanced glycation end products (AGEs) play an important role in the development and pathogenesis of FAP.Material and methods. To evaluate the impact of AGEs on FAP patients' kidney dysfunction, we measured AGE in serum and urine of 28 FAP patients and 18 healthy controls by AGE-specific enzyme-linked immunosorbent assay (ELISA). Immunohistochemistry utilizing antibodies to AGE and the receptor for AGE (RAGE) were used on kidney tissue from 3 FAP patients and 3 diabetic patients to disclose a correlation between amyloid deposits and AGE -RAGE.Results. The glomeruli of FAP patients were heavily deposited with amyloid and the glomerular size was enlarged. The space between Bowman's capsule and glomerulus was totally covered by the enlarged glomerulus. AGE and RAGE were deposited in glomeruli and tubuli and correlated with amyloid deposits. Decreased AGE levels in the liver-transplanted FAP patients' serum compared with that of non-transplanted patients were noted, and AGE concentration in serum tended to be higher in non-transplanted FAP patients compared with normal control subjects. There were no differences in the AGE urine levels in FAP patients compared with controls. No correlation could be found between AGE in urine and serum compared with serum albumin, serum creatinine and creatinine clearance.Conclusions. The accumulation of AGE, RAGE and amyloid in the kidney of FAP patients suggests that these molecules play an important role in the origin and pathogenesis of renal failure in FAP patients.
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| 43. |
- Monoranu, Camelia Maria, et al.
(författare)
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pH measurement as quality control on human post mortem brain tissue : a study of the BrainNet Europe consortium
- 2009
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Ingår i: Neuropathology and Applied Neurobiology. - : Wiley. - 0305-1846 .- 1365-2990. ; 35:3, s. 329-337
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Tidskriftsartikel (refereegranskat)abstract
- AIMS: Most brain diseases are complex entities. Although animal models or cell culture experiments mimic some disease aspects, human post mortem brain tissue remains essential to advance our understanding of brain diseases using biochemical and molecular techniques. Post mortem artefacts must be properly understood, standardized, and either eliminated or factored into such experiments. Here we examine the influence of several premortem and post mortem factors on pH, and discuss the role of pH as a biochemical marker for brain tissue quality. METHODS: We assessed brain tissue pH in 339 samples from 116 brains provided by 8 different European and 2 Australian brain bank centres. We correlated brain pH with tissue source, post mortem delay, age, gender, freezing method, storage duration, agonal state and brain ischaemia. RESULTS: Our results revealed that only prolonged agonal state and ischaemic brain damage influenced brain tissue pH next to repeated freeze/thaw cycles. CONCLUSIONS: pH measurement in brain tissue is a good indicator of premortem events in brain tissue and it signals limitations for post mortem investigations.
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| 44. |
- Mosca, Andrea, et al.
(författare)
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Global standardization of glycated hemoglobin measurement: the position of the IFCC Working Group
- 2007
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Ingår i: Clinical Chemistry and Laboratory Medicine. - 1434-6621. ; 45:8, s. 1077-1080
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Tidskriftsartikel (refereegranskat)abstract
- The measurement of glycated hemoglobin is central in the monitoring of glycemic control in patients with diabetes. There are at least 30 different laboratory assays commercially available to measure the proportion of HbA1c in blood. In 1995 the IFCC established a Working Group (IFCC WG-HbA1c) to achieve international standardization of HbA1c measurement. The main achievements can be summarized as follows: a) a reference measurement procedure has been established with purified primary calibrators; b) a network of reference laboratories has been developed worldwide; and c) work has begun on implementation of traceability to the IFCC reference system. The IFCC WG-HbA1c recognizes the recommendation of the IFCC-IUPAC Committee on Nomenclature, Properties and Units that the analyte measured by the IFCC reference measurement procedure has been defined as beta N1-deoxyfructosyl-hemoglobin and that the recommended measurement units are mmol/mol. The IFCC WG-HbA1c recommends maintaining the use of the name HbA1c in clinical practice.
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| 45. |
- Muller, Kay, et al.
(författare)
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Analysis of protein S-100B in serum: a methodological study
- 2006
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Ingår i: Clinical Chemistry and Laboratory Medicine. - 1434-6621. ; 44:9, s. 1111-1114
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Tidskriftsartikel (refereegranskat)abstract
- Background: Dysfunction and damage of the human central nervous system can be detected with biochemical markers, and protein S-100B is the best-established such marker. The aim of this study was to evaluate whether the protein is stable during longterm storage, to establish reference values for the new Elecsys((R)) S100 test and to compare this new method with the Liaison((R)) Sangtec((R)) 100 test. Methods: We analysed blood samples from 118 blood donors and 196 patients with subarachnoid haemorrhage or head injury. The long-term stability of S-100B in frozen serum samples was evaluated with repeated analysis in 1997 and 2003 using an immunoradiometric assay. Method comparison between the Liaison((R)) Sangtec((R)) 100 and Elecsys((R)) S100 tests was performed using Bland-Altman difference plots. Results: Serum concentrations increased significantly during long-term storage (mean difference 0.15 mu g/L; +/- 2 SD, 0.55 mu g/L). Serum measurements using the Elecsys ((R)) S100 method in 118 healthy blood donors showed S-100B levels between 0.02 and 0.08 mu g/L (mean 0.05). The 95th percentile was 0.07 mu g/L. The Liaison ((R)) Sangtec((R)) 100 test usually measured higher concentrations than the Elecsys((R)) S100 method, and the difference between the two methods increased with increasing concentrations. The mean difference between the methods was 0.14 mu g/L (+/- 2 SD, 0.39 mu g/L). Conclusions: Protein S-100B is not stable during longterm storage and the two analytical methods are not interchangeable.
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| 46. |
- Narkilahti, Susanna, et al.
(författare)
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Increased expression of caspase 2 in experimental and human temporal lobe epilepsy.
- 2007
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Ingår i: Neuromolecular medicine. - 1535-1084 .- 1559-1174. ; 9:2, s. 129-44
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Tidskriftsartikel (refereegranskat)abstract
- Temporal lobe epilepsy (TLE) is often caused by a neurodegenerative brain insult that triggers epileptogenesis, and eventually results in spontaneous seizures, i.e., epilepsy. Understanding the mechanisms of cell death is a key for designing new drug therapies for preventing the neurodegeneration associated with TLE. Here, we investigated the expression of caspase 2, a protein involved in programmed cell death, during the course of epilepsy. We investigated caspase 2 expression in hippocampal samples derived from patients operated on for drug refractory TLE. To understand the evolution of altered-caspase 2 expression during the epileptic process, we also examined caspase 2 expression and activity in the rat hippocampus after status epilepticus-induced acute damage, during epileptogenesis, and after the onset of epilepsy. Caspase 2 expression was enhanced in the hippocampal neurons in chronic TLE patients. In rats, status epilepticus-induced caspase 2 labeling paralleled the progression of neurodegeneration. Proteolytic activation and cleavage of caspase 2 was also detected in the rat brain undergoing epileptogenesis. Our data suggest that caspase 2-mediated programmed cell death participates in the seizure-induced degenerative process in experimental and human TLE.
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| 47. |
- Nilson, Emma, et al.
(författare)
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Calcium addition to EDTA plasma eliminates falsely positive results in the RSR GADAb ELISA
- 2008
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Ingår i: Clinica Chimica Acta. - : Elsevier BV. - 0009-8981. ; 388:1-2, s. 130-134
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The RSR ELISAs for GADAb and IA-2Ab are now widely used but due to a considerable number of falsely positive GADAb results obtained with EDTA plasma, it is recommended that only serum samples are run in these two assays. However, as EDTA plasma is often the preferred sample type in Europe we have assessed the possibility that adding Ca(2+) to plasma would reduce the number of falsely positive results. METHODS: Antibody positive as well as antibody negative diabetic subjects were included in the study (n=80). Serum and EDTA plasma were collected from the same subjects at the same occasion. Samples were divided into three groups; sera, EDTA plasma and EDTA plasma+Ca(2+). ELISA kits were supplied by RSR((R)) Ltd and performed according to the manufacturers instructions. RESULTS: GADAb analyses with plasma showed a markedly increased prevalence of GADAb positive subjects (81%) compared to sera (36%), indicating falsely positive results with plasma. Addition of Ca(2+) reduced the number of GADAb positive results to the same number obtained with serum. IA-2Ab positivity was not different between sera and plasma. CONCLUSION: EDTA plasma can be used in the RSR GADAb and IA-2Ab ELISAs if Ca(2+) is added prior to assay.
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| 48. |
- Nilsson, Karin, et al.
(författare)
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Plasma homocysteine and vascular disease in elderly patients with mental illness
- 2008
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Ingår i: Clinical Chemistry and Laboratory Medicine. - 1434-6621. ; 46:11, s. 1556-1561
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Forskningsöversikt (refereegranskat)abstract
- Total plasma homocysteine (tHcy) concentration is elevated in elderly patients with mental illness compared to control subjects. There are many different determinants of plasma tHcy concentration, including the presence of vascular disease. The presence of vascular disease may contribute to cognitive impairment. Clarification of the role of vascular risk factors in mental illness is important because most are modifiable, in contrast to other risk factors, such as age and genetics. In this review, we summarize the findings of our investigations of vascular disease and plasma tHcy level in elderly patients with mental illness. Elevated plasma tHcy concentration in elderly patients with mental illness was mainly associated with the presence of vascular disease and was not related to the specific psychogeriatric diagnosis. Furthermore, it seems possible that the control of conventional vascular risk factors could be guided by the level of plasma tHcy, serum cystatin C, serum N-terminal pro-brain natriuretic peptide, and serum C-reactive protein.
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| 49. |
- Nordberg, Jonas, et al.
(författare)
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Quantitative and qualitative evaluation of plasma and urine alpha(1)-microglobulin in healthy donors and patients with different haemolytic disorders and haemochromatosis
- 2007
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Ingår i: Clinica Chimica Acta. - : Elsevier BV. - 0009-8981. ; 386:1-2, s. 31-37
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Tidskriftsartikel (refereegranskat)abstract
- Background: The haem-binding protein alpha(1)-microglobulin (alpha(1)m) is involved in protection against oxidative damage induced by extracellular haem/haemoglobin. A carboxy-terminally truncated form of alpha(1)m (t-alpha(1)m), formed by reactions with haemoglobin, degrades haem into a yellow-brown chromophore linked to the protein. The aim of this work was to investigate if t-alpha(1) in is present in urine from a large cohort and if urinary and plasma alpha(1)m/t-alpha(1)m concentrations are changed in patients with haemolytic disorders and haemochromatosis. Methods: Urine and blood from patients (n = 20) and a control group (n = 22) were investigated for alpha(1) in and t-alpha(1)m by gel electrophoresis, Western blotting and radioimmunoassay. Data were compared to clinical chemistry data and medical records. Results: Two thirds of all studied subjects displayed t-alpha(1)m in urine but the t-alpha(1)m/alpha(1)m ratio was not increased in patients. Instead, significantly elevated ratios were found in females compared to males. Patients with intravascular or extravascular haemolysis showed higher alpha(1)m, albumin and beta(2)-microglobulin/creatinine ratios in urine indicating glomerulo-tubular dysfunction. Conclusions: The demonstration of t-alpha(1)m in urine of this cohort may be of importance in quantitative clinical chemistry. Whilst impaired kidney function due to intravascular haemolysis is well-known to occur, it is an unexpected finding in a group of patients with extravascular haemolysis. (C) 2007 Elsevier B.V. All rights reserved.
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| 50. |
- Norman, Holly, et al.
(författare)
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Myofibrillar protein and gene expression in acute quadriplegic myopathy
- 2009
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Ingår i: Journal of the Neurological Sciences. - : Elsevier BV. - 0022-510X .- 1878-5883. ; 285:1-2, s. 28-38
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Tidskriftsartikel (refereegranskat)abstract
- The dramatic muscle wasting, preferential loss of myosin and impaired muscle function in intensive care unit (ICU) patients with acute quadriplegic myopathy (AQM) have traditionally been suggested to be the result of proteolysis via specific proteolytic pathways. In this study we aim to investigate the mechanisms underlying the preferential loss of thick vs. thin filament proteins and the reassembly of the sarcomere during the recovery process in muscle samples from ICU patients with AQM. Quantitative and qualitative analyses of myofibrillar protein and mRNA expression were analyzed using SDS-PAGE, confocal microscopy, histochemistry and real-time PCR. The present results demonstrate that the transcriptional regulation of myofibrillar protein synthesis plays an important role in the loss of contractile proteins, as well as the recovery of protein levels during clinical improvement, myosin in particular, presumably in concert with proteolytic pathways, but the mechanisms are specific to the different thick and thin filament proteins studied.
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