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  • 1
    Language: English
    In: Radiology, September 2013, Vol.268(3), pp.858-64
    Description: To investigate equilibrium contrast material-enhanced magnetic resonance (MR) imaging measurement of extracellular volume (ECV) fraction within healthy abdominal tissues and to test the hypotheses that tissue ECV in systemic amyloid light-chain (AL) amyloidosis is greater than in healthy patients and show that this increase correlates with organ amyloid burden. A local ethics committee approved the study and all patients gave written informed consent. Forty healthy volunteers (18 men, 22 women; median age, 43 years; age range, 24-88 years) and 67 patients with AL amyloidosis (43 men, 24 women; median age, 65 years; age range, 38-81 years) underwent equilibrium MR imaging of the upper abdomen. ECV was measured in the liver, spleen, and paravertebral muscle. Patients with amyloidosis also underwent serum amyloid P (SAP) component scintigraphy so that specific organ involvement by amyloid could be scored. Variation in ECV between tissues was assessed by using a Friedman Test. Tissue ECV in healthy and amyloidosis groups were compared by using a Mann-Whitney U test. Spearman correlation was used to test for an association between the organ SAP score and ECV. ECV measured at equilibrium MR imaging varied significantly between organs in healthy volunteers (χ(2) = 31.0; P 〈 .001). ECV was highest in the spleen (0.34), followed by liver (0.29) and muscle (0.09). ECVs measured within the spleen (0.39; P〈 .001), liver (0.31; P = .005), and muscle (0.16; P〈 .001) were significantly higher in patients with amyloidosis than in healthy control subjects. ECV measured in the liver and spleen showed increasing organ amyloid burden assessed at SAP scintigraphy (liver, rs = 0.54; spleen, rs = 0.57). Equilibrium MR imaging can be used to define ECV within healthy tissues. ECV is increased in amyloidosis compared with healthy tissues, and this increase correlates with rising tissue amyloid burden.
    Keywords: Meglumine ; Organometallic Compounds ; Amyloidosis -- Pathology ; Extracellular Fluid -- Cytology ; Image Enhancement -- Methods ; Liver -- Pathology ; Magnetic Resonance Imaging -- Methods ; Spleen -- Pathology
    ISSN: 00338419
    E-ISSN: 1527-1315
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  • 2
    In: The New England Journal of Medicine, 2012, Vol.366(24), pp.2276-2283
    Description: We describe a kindred with slowly progressive gastrointestinal symptoms and autonomic neuropathy caused by autosomal dominant, hereditary systemic amyloidosis. The amyloid consists of Asp76Asn variant β 2 -microglobulin. Unlike patients with dialysis-related amyloidosis caused by sustained high plasma concentrations of wild-type β 2 -microglobulin, the affected members of this kindred had normal renal function and normal circulating β 2 -microglobulin values. The Asp76Asn β 2 -microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions. Previous studies of β 2 -microglobulin aggregation have not shown such amyloidogenicity for single-residue substitutions. Comprehensive biophysical characterization of the β 2 -microglobulin variant, including its 1.40-Å, three-dimensional structure, should allow further elucidation of fibrillogenesis and protein misfolding. A kindred with familial amyloidosis was found to have bowel and autonomic dysfunction and the sicca syndrome from an aspartate-to-asparagine alteration at amino acid 76 of β2-microglobulin. Unexpectedly, this alteration promoted fibrillogenesis and tissue deposition. Summary We describe a kindred with slowly progressive gastrointestinal symptoms and autonomic neuropathy caused by autosomal dominant, hereditary systemic amyloidosis. The amyloid consists of Asp76Asn variant β2-microglobulin. Unlike patients with dialysis-related amyloidosis caused by sustained high plasma concentrations of wild-type β2-microglobulin, the affected members of this kindred had normal renal function and normal circulating β2-microglobulin values. The Asp76Asn β2-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions. Previous studies of β2-microglobulin aggregation have not shown such amyloidogenicity for single-residue substitutions. Comprehensive biophysical characterization of the β . . .
    Keywords: Amyloidosis, Familial -- Genetics ; Beta 2-Microglobulin -- Genetics;
    ISSN: 0028-4793
    E-ISSN: 1533-4406
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  • 3
    In: Circulation, 2015, Vol.132(16), pp.1570-1579
    Description: BACKGROUND—: The prognosis and treatment of the 2 main types of cardiac amyloidosis, immunoglobulin light chain (AL) and transthyretin (ATTR) amyloidosis, are substantially influenced by cardiac involvement. Cardiovascular magnetic resonance with late gadolinium enhancement (LGE) is a reference standard for the diagnosis of cardiac amyloidosis, but its potential for stratifying risk is unknown. METHODS AND RESULTS—: Two hundred fifty prospectively recruited subjects, 122 patients with ATTR amyloid, 9 asymptomatic mutation carriers, and 119 patients with AL amyloidosis, underwent LGE cardiovascular magnetic resonance. Subjects were followed up for a mean of 24±13 months. LGE was performed with phase-sensitive inversion recovery (PSIR) and without (magnitude only). These were compared with extracellular volume measured with T1 mapping. PSIR was superior to magnitude-only inversion recovery LGE because PSIR always nulled the tissue (blood or myocardium) with the longest T1 (least gadolinium). LGE was classified into 3 patterns: none, subendocardial, and transmural, which were associated with increasing amyloid burden as defined by extracellular volume (P〈0.0001), with transitions from none to subendocardial LGE at an extracellular volume of 0.40 to 0.43 (AL) and 0.39 to 0.40 (ATTR) and to transmural at 0.48 to 0.55 (AL) and 0.47 to 0.59 (ATTR). Sixty-seven patients (27%) died. Transmural LGE predicted death (hazard ratio, 5.4; 95% confidence interval, 2.1–13.7; P〈0.0001) and remained independent after adjustment for N-terminal pro-brain natriuretic peptide, ejection fraction, stroke volume index, E/E′, and left ventricular mass index (hazard ratio, 4.1; 95% confidence interval, 1.3–13.1; P〈0.05). CONCLUSIONS—: There is a continuum of cardiac involvement in systemic AL and ATTR amyloidosis. Transmural LGE is determined reliably by PSIR and represents advanced cardiac amyloidosis. The PSIR technique provides incremental information on outcome even after adjustment for known prognostic factors.
    Keywords: Medicine ; Anatomy & Physiology;
    ISSN: 0009-7322
    E-ISSN: 15244539
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  • 4
    Language: English
    In: Heart, 1 October 2012, Vol.98(19), p.1436
    Description: To measure and assess the significance of myocardial extracellular volume (ECV), determined non-invasively by equilibrium contrast cardiovascular magnetic resonance, as a clinical biomarker in health and a number of cardiac diseases of varying pathophysiology.
    Keywords: Cmr ; Gadolinium ; Extracellular Volume ; Arrhythmias ; Defibrillation ; Cardiac Function ; Imaging and Diagnostics ; Mri ; Myocardial Disease ; Myocardial Fibrosis ; Myocardial Ischaemia and Infarction (Ihd) ; Sudden Adult Death Syndrome ; Cardiomyopathy Hypertrophic ; Arrhythmic Right Ventricular Dysplasia ; Congenital Heart Disease ; Thoracic Imaging ; Cardiac Anatomy ; Paediatric Cardiac Function ; Myocardial Infarction ; Myocytes ; Apoptosis ; Ischaemia Reperfusion ; Myocardial Protection ; Metabolic Medicine ; Diabetic Heart Disease ; Cardiomyopathy ; Cardiomyopathy Apical ; Cardiomyopathy Restrictive ; Hypertrophic Cardiomyopathy ; Cardiac Imaging ; Mri ; Editor'S Choice
    ISSN: 1355-6037
    ISSN: 13556037
    E-ISSN: 1468-201X
    E-ISSN: 1468201X
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  • 5
    In: The New England Journal of Medicine, 2005, Vol.352(22), pp.2356-2356
    Description: To the Editor: Familial amyloidotic polyneuropathy is a fatal autosomal dominant disease caused by amyloidogenic genetic variants of transthyretin. The liver is the predominant source of circulating transthyretin, and liver transplantation is the only treatment available for the disease. 1 Livers explanted from patients with familial amyloidotic polyneuropathy contain only microscopic amyloid deposits in hilar vessels and nerves and are otherwise uninvolved. Since 1995, more than 300 such livers removed at transplantation have been used sequentially as donor grafts for recipients with liver cancer or end-stage liver disease, in so-called domino liver transplantation. 2 We report here a case of systemic transthyretin . . .
    Keywords: Adult–Etiology ; Amyloid Neuropathies, Familial–Surgery ; Carcinoma, Hepatocellular–Complications ; Hepatitis C–Chemistry ; Humans–Surgery ; Liver–Adverse Effects ; Liver Neoplasms–Analysis ; Liver Transplantation–Analysis ; Male–Analysis ; Middle Aged–Analysis ; Prealbumin–Analysis ; Abridged ; Prealbumin;
    ISSN: 0028-4793
    E-ISSN: 1533-4406
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  • 6
    Language: English
    In: Journal of the American College of Cardiology, 25 July 2017, Vol.70(4), pp.466-477
    Description: Cardiac transthyretin amyloidosis (ATTR) is an increasingly recognized cause of heart failure. Cardiac magnetic resonance (CMR), with late gadolinium enhancement (LGE) and T1 mapping, is emerging as a reference standard for diagnosis and characterization of cardiac amyloidosis. The authors used CMR with extracellular volume fraction (ECV) measurement to characterize cardiac involvement in relation to outcome in ATTR. Subjects comprised 263 patients with cardiac ATTR corroborated by grade 2 to 3 Tc-DPD ( Tc-3,3-diphosphono-1,2-propanodicarboxylic acid) cardiac uptake, 17 with suspected cardiac ATTR (grade 1 Tc-DPD), and 12 asymptomatic individuals with amyloidogenic transthyretin (TTR) mutations. Fifty patients with cardiac light-chain (AL) amyloidosis acted as disease comparators. Unlike cardiac AL amyloidosis, asymmetrical septal left ventricular hypertrophy (LVH) was present in 79% of patients with ATTR (70% sigmoid septum and 30% reverse septal contour), whereas symmetrical LVH was present in 18%, and 3% had no LVH. In patients with cardiac amyloidosis, the pattern of LGE was always typical for amyloidosis (29% subendocardial, 71% transmural), including right ventricular LGE (96%). During follow-up (19 ± 14 months), 65 patients died. ECV independently correlated with mortality and remained independent after adjustment for age, N-terminal pro-B-type natriuretic peptide, ejection fraction, E/E′, and left ventricular mass (hazard ratio: 1.164; 95% confidence interval: 1.066 to 1.271; p 〈 0.01). Asymmetrical hypertrophy, traditionally associated with hypertrophic cardiomyopathy, was the commonest pattern of ventricular remodeling in ATTR. LGE imaging was typical in all patients with cardiac ATTR. ECV correlated with amyloid burden and was an independent prognostic factor for survival in this cohort of patients.
    Keywords: Attr ; Extracellular Volume Fraction ; Late Gadolinium Enhancement ; Left Ventricular Hypertrophy ; N-Terminal Pro-B-Type Natriuretic Peptide ; Medicine
    ISSN: 0735-1097
    E-ISSN: 1558-3597
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  • 7
    Language: English
    In: Annals of the Rheumatic Diseases, 7 December 2012, Vol.71(12), p.2035
    Description: To investigate convergence of endoplasmic reticulum stress pathways and enhanced reactive oxygen species (ROS) production, due to intracellular retention of mutant tumour necrosis factor receptor 1 (TNFR1), as a disease mechanism in TNFR-associated periodic syndrome (TRAPS).
    Keywords: United Kingdom–UK ; Kinases ; Mutation ; Apoptosis ; Tumor Necrosis Factor-Tnf;
    ISSN: 0003-4967
    ISSN: 00034967
    E-ISSN: 1468-2060
    E-ISSN: 14682060
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  • 8
    In: Rheumatology, 2017, Vol. 56(2), pp.209-213
    Description: Objective. This study was undertaken to characterize the phenotype and response to treatment in patients with autosomal dominant FMF caused by MEFV p.M694del mutation and to use haplotype reconstruction to investigate the possibility of common ancestry. Methods. MEFV gene was analysed in 3500 subjects with suspected FMF referred to a single UK centre between 2002 and 2014. Patients with p.M694del underwent additional screening of the SAA1 gene as well as haplotype reconstruction of the MEFV locus. Results. The p.M694del variant was identified in 21 patients, sharing an identical disease haplotype that appears to have arisen about 550 years ago. The SAA1.1 allele was found in four patients, including two with AA amyloidosis. The clinical features comprised typical FMF symptoms with median age at onset of 18 years; three patients presented with AA amyloidosis, of whom two had had symptoms of FMF in retrospect. Fifteen patients had received colchicine treatment, all with excellent responses. Conclusion. The p.M694del variant is associated with autosomal dominantly inherited FMF in Northern European Caucasians. Symptoms may develop later in life than in classical recessive FMF but are otherwise similar, as is the response to colchicine treatment. The 14% incidence of AA amyloidosis may reflect delay in diagnosis associated with extreme rarity of FMF in this population. The common haplotype suggests a single founder living in about 1460.
    Keywords: Fmf ; Mefv Gene ; Colchicine ; Haplotype ; Aa Amyloidosis ; Dominant Inheritance
    ISSN: 1462-0324
    E-ISSN: 1462-0332
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  • 9
    In: Rheumatology, 2017, Vol. 56(9), pp.1484-1491
    Description: Objectives: Pneumococcal, tetanus and influenza vaccinations are recommended for patients with cryopyrin-associated periodic syndromes (CAPS) when treated with immunosuppressive medication. The aim of this publication is to report the safety of pneumococcal and other vaccinations in CAPS patients.Methods: All CAPS patients followed in the β-CONFIDENT (Clinical Outcomes and Safety Registry study of Ilaris patients) registry were analysed if they had received a vaccination. The β-CONFIDENT registry is a global, long-term, prospective, observational registry, capturing and monitoring patients treated with canakinumab.Results: Sixty-eight CAPS patients had received a total of 159 vaccine injections, 107 injections against influenza, 19 pneumococcal vaccinations, 12 against tetanus/diphtheria antigens and 21 other vaccinations. Fourteen per cent of injections had elicited at least one vaccine reaction. All five vaccine-related serious adverse events were associated with pneumococcal vaccination. Vaccine reactions were observed in 70% of pneumococcal vaccinations, compared with 7% in influenza and 17% in tetanus/diphtheria vaccinations. The odds ratios to react to the pneumococcal vaccines compared with influenza and tetanus/diphtheria vaccines were 31.0 (95% CI: 8, 119) and 10.8 (95% CI: 2, 74). Vaccine reactions after pneumococcal vaccinations were more severe and lasted significantly longer (up to 3 weeks) compared with other vaccinations. In two patients, pneumococcal vaccination also elicited symptoms consistent with systemic inflammation due to CAPS reactivation.Conclusion: Pneumococcal vaccines, unlike other vaccines, frequently trigger severe local and systemic inflammation in CAPS patients. Clinicians must balance potential benefits of pneumococcal immunization against safety concerns. The 13-valent pneumococcal conjugate vaccine might be favourable over the polysaccharide vaccine in CAPS patients.
    Keywords: Cryopyrin - Associated Periodic Syndromes ; Caps ; Vaccinations ; Safety
    ISSN: 1462-0324
    E-ISSN: 1462-0332
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  • 10
    Language: English
    In: Journal of the American College of Cardiology, 26 June 2018, Vol.71(25), pp.2919-2931
    Description: Prognosis in light-chain (AL) and transthyretin (ATTR) amyloidosis is influenced by cardiac involvement. ATTR amyloidosis has better prognosis than AL amyloidosis despite more amyloid infiltration, suggesting additional mechanisms of damage in AL amyloidosis. The aim of the study was to assess the presence and prognostic significance of myocardial edema in patients with amyloidosis. The study recruited 286 patients: 100 with systemic AL amyloidosis, 163 with cardiac ATTR amyloidosis, 12 with suspected cardiac ATTR amyloidosis (grade 1 on Tc-3,3-diphosphono-1,2-propanodicarboxylic acid), 11 asymptomatic individuals with amyloidogenic TTR gene mutations, and 30 healthy volunteers. All subjects underwent cardiovascular magnetic resonance with T1 and T2 mapping and 16 underwent endomyocardial biopsy. Myocardial T2 was increased in amyloidosis with the degree of elevation being highest in untreated AL patients (untreated AL amyloidosis 56.6 ± 5.1 ms; treated AL amyloidosis 53.6 ± 3.9 ms; ATTR amyloidosis 54.2 ± 4.1 ms; each p 〈 0.01 compared with control subjects: 48.9 ± 2.0 ms). Left ventricular (LV) mass and extracellular volume fraction were higher in ATTR amyloidosis compared with AL amyloidosis while LV ejection fraction was lower (p 〈 0.001). Histological evidence of edema was present in 87.5% of biopsy samples ranging from 5% to 40% myocardial involvement. Using Cox regression models, myocardial T2 predicted death in AL amyloidosis (hazard ratio: 1.48; 95% confidence interval: 1.20 to 1.82) and remained significant after adjusting for extracellular volume fraction and N-terminal pro–B-type natriuretic peptide (hazard ratio: 1.32; 95% confidence interval: 1.05 to 1.67). Myocardial edema is present in cardiac amyloidosis by histology and cardiovascular magnetic resonance T2 mapping. T2 is higher in untreated AL amyloidosis compared with treated AL and ATTR amyloidosis, and is a predictor of prognosis in AL amyloidosis. This suggests mechanisms additional to amyloid infiltration contributing to mortality in amyloidosis.
    Keywords: Amyloidosis ; Cmr ; T2 Mapping ; Medicine
    ISSN: 0735-1097
    E-ISSN: 1558-3597
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