| 1. |
- Suhr, Ole B, et al.
(författare)
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Scavenger treatment of free radical injury in familial amyloidotic polyneuropathy : a study on Swedish transplanted and non-transplanted patients.
- 2001
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Ingår i: Scandinavian Journal of Clinical and Laboratory Investigation. - 0036-5513 .- 1502-7686. ; 61:1, s. 11-8
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Tidskriftsartikel (refereegranskat)abstract
- Since oxidative stress has been implicated in amyloid diseases, a study of scavenger treatment of hereditary transthyretin amyloidosis was undertaken on 23 familial amyloidotic polyneuropathy (FAP) patients. Nine patients had undergone a liver transplantation for the disease. Twenty patients completed the 6-month study period of scavenger treatment (vitamin C, 1 g, three times daily, vitamin E, 0.1 g, three times daily and acetylcysteine, 0.2 g three times daily). They were evaluated clinically and by immunohistochemical measurement of hydroxynonenal (HNE), a product of lipid peroxidation, in biopsy specimens. For non-transplanted patients, no improvement was found for HNE in relation to the amyloid content in biopsy specimens, whereas a tendency to a decreased amount was noted for transplanted patients. Clinically, no differences were found for non-transplanted patients, but an increased nutritional status, measured by a modified body mass index (mBMI) was noted for transplanted patients. In summary, scavenger treatment with the drugs and doses used in the present study appears to be unable to decrease lipid peroxidation in amyloid-rich tissue in non-transplanted FAP patients. For transplanted patients, lipid peroxidation tended to decrease, and the nutritional status measured by mBMI improved, even though the findings may be explained by liver transplantation alone, scavenger treatment may facilitate recovery after transplantation.
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| 2. |
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| 3. |
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| 4. |
- Janunger, T, et al.
(författare)
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Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene : ATTR Ala45Ser.
- 2000
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Ingår i: Amyloid. - 1350-6129 .- 1744-2818. ; 7:2, s. 137-40
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Tidskriftsartikel (refereegranskat)abstract
- Cardiac failure in transthyretin (TTR) amyloidosis patients has been shown to be caused by different mutations in the TTR gene. In the present case, a 73-year-old man from Northern Sweden was evaluated for heart failure. Amyloid deposits were found in subcutaneous fat and in intestinal biopsies. The presence of a variant form of TTR was detected in the plasma by electrospray ionisation mass spectrometry (ESI-MS). The mutation was located by single-strand conformation polymorphism (SSCP) analysis of the TTR gene where a band shift was seen in exon 2. Direct sequencing of exon 2 revealed a single base-pair substitution (G1724T). This transversion results in an amino acid substitution at codon 45, alanine to serine (ATTR Ala45Ser). Mass spectrometry analysis excluded that the variant is a polymorphism, since no similar shift in molecular weight has been present in more than 200 control samples. Congo red and immunostaining of duodenum biopsy specimens confirmed the presence of systemic ATTR amyloidosis, and clinical examination, including echocardiography, found evidence of a restrictive cardiomyopathy. He had 10 years previously been operated for a bilateral carpal tunnel syndrome, but otherwise no symptoms were present that could be attributed to his systemic amyloidosis. No axonal polyneuropathy was noted at nerve conduction studies. This novel mutation is the second amyloidogenic TTR mutation found in the Swedish population.
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| 5. |
- Jonsén, Elisabeth, et al.
(författare)
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Early liver transplantation is essential for familial amyloidotic polyneuropathy patients' quality of life.
- 2001
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Ingår i: Amyloid. - 1350-6129 .- 1744-2818. ; 8:1, s. 52-7
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Tidskriftsartikel (refereegranskat)abstract
- Nineteen patients, who had undergone liver transplantation for familial amyloidotic polyneuropathy, had answered a quality of life questionnaire including 61 questions on somatic and mental symptoms, social aspects of life, confidence and satisfaction before, one year, and two years after transplantation. We found that patient satisfaction was generally good two years or more after the transplantation. Most of the patients were very or quite satisfied with the result. All of them had the drive to go on and felt hopeful about the future. However, on the second follow-up, 37% of the patients noted that they felt more insecure in their everyday life and there was a significant difference between the two assessments. The diarrhea score became worse between one and two years after the transplantation and was closely related to the duration of the gastrointestinal symptoms and to the duration of the disease before transplantation. The mental symptoms also increased significantly between the evaluations and this related to the severity of the somatic symptoms. Our conclusion is that liver transplantation should be performed before advanced somatic symptoms start to develop in order to improve the patients' chances of a good quality of life following liver transplantation.
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| 6. |
- Mambule, C, et al.
(författare)
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Enhancement of AA-amyloid formation in mice by transthyretin amyloid fragments and polyethylene glycol.
- 2000
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Ingår i: Biochimica et Biophysica Acta. - 0006-3002 .- 1878-2434. ; 1474:3, s. 331-6
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Tidskriftsartikel (refereegranskat)abstract
- The mechanism behind amyloid formation is unknown in all types of amyloidosis. Several substances can enhance amyloid formation in animal experiments. To induce secondary systemic amyloid (AA-type amyloid) formation, we injected silver nitrate into mice together with either amyloid fibrils obtained from patients with familial polyneuropathy (FAP) type I or polyethylene glycol (PEG). Mice injected with silver nitrate only served as controls. Amyloid deposits were detectable at day 3 in animals injected with amyloid fibrils and in those injected with PEG, whereas in control mice, deposits were not noted before day 12. Our results indicate that amyloid fibrils from FAP patients and even a non-sulfate containing polysaccharide (PEG) have the potential to act as amyloid-enhancing factors.
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