نتایج جستجو برای: related amyloidosis
تعداد نتایج: 1177213 فیلتر نتایج به سال:
Aims In transthyretin amyloid (ATTR) amyloidosis various principal phenotypes have been described: cardiac, neuropathic, or a mixed cardiac and neuropathic. In addition, two different types of amyloid fibrils have been identified (type A and type B). Type B fibrils have thus far only been found in predominantly early-onset V30M and in patients carrying the Y114C mutation, whereas type A is note...
the diagnosis of cardiac amyloidosis. Heart 2012;98:1442–1448. 35. Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. Eur Heart ...
We report a 65-year-old male with hepatitis C virus (HCV)-associated glomerulonephritis (GN) and AL amyloidosis. This patient had a 14-year history of HCV infection with positive serum HCV RNA at presentation. Diagnosis of HCV-related GN was established using immunohistochemistry in which the HCV-NS3 antigen was mainly detected as granular deposition in glomerular mesangium. AL amyloidosis was ...
protein aggregation is a serious problem for both biotechnology and cell biology. diseases such as prion misfolding, alzheimer’s, and other amyloidosis are phenomena for which protein aggregation in our living cells is of considerable relevance. human lysozyme has been shown to form amyloid fibrils in individuals suffering from nonneuropathic systemic amyloidosis, all of which have point mutati...
BACKGROUND Dialysis-related amyloidosis is one of the chronic the complications of haemodialysis. We conducted an investigation of dialysis-associated amyloidosis in extremely long-term survivors. METHODS Twenty-one patients on haemodialysis for more than 30 years ('30+' group) and 13 patients on haemodialysis for 20-30 years ('20-30' group) at Sangenjaya Hospital were enrolled in this study....
Cardiac amyloidosis describes clinically significant involvement of the heart by amyloid deposition, which may or may not be associated with involvement of other organs. The purpose of this review is to summarize the current state of evidence for the effective evaluation and management of cardiac amyloidosis. Acquired systemic amyloidosis occurs in more than 10 per million person-years in the U...
A young woman patient had early and extensive familial Mediterranean fever (FMF)-related amyloidosis and pseudoxanthoma elasticum (PXE). She had the novel G1042S mutation in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, responsible for PXE, and the mutation M694I in MEFV, the FMF gene. Both mutations were homozygous, in agreement with consanguinity in the parents. ABCC6 deficiency...
Aims In transthyretin amyloid (ATTR) amyloidosis various principal phenotypes have been described: cardiac, neuropathic, or a mixed cardiac and neuropathic. In addition, two different types of amyloid fibrils have been identified (type A and type B). Type B fibrils have thus far only been found in predominantly early-onset V30M and in patients carrying the Y114C mutation, whereas type A is note...
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