1,250 results match your criteria Amyloid [Journal]


A case of novel amyloidosis: glucagon-derived amyloid deposition associated with pancreatic neuroendocrine tumour.

Amyloid 2020 Jun 29:1-2. Epub 2020 Jun 29.

Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1080/13506129.2020.1785417DOI Listing

New visceral manifestations of fibrinogen alpha-chain amyloidosis.

Amyloid 2020 Jun 24:1-2. Epub 2020 Jun 24.

Centre Hospitalier Regional Universitaire de Lille, Service de Néphrologie et transplantation rénale, Lille, France.

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http://dx.doi.org/10.1080/13506129.2020.1782373DOI Listing

TTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients.

Amyloid 2020 Jun 24:1-4. Epub 2020 Jun 24.

Department of Neurology, Oregon Health & Science University, Portland, OR, USA.

Patients with hereditary transthyretin (TTR) amyloidosis (hATTR) often experience disease progression after orthotopic liver transplant (POLT) due in part to wild type ATTR amyloid deposition. The management strategy is not defined. We propose that TTR gene silencing with an antisense oligonucleotide or a small interfering ribonucleic acid may be a treatment for these patients. Read More

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http://dx.doi.org/10.1080/13506129.2020.1784134DOI Listing

Presence of t(11;14) in AL amyloidosis as a marker of response when treated with a bortezomib-based regimen.

Amyloid 2020 Jun 19:1-6. Epub 2020 Jun 19.

Amyloidosis Center, Boston University School of Medicine and Boston Medical Center, Boston, MA, USA.

The proteasome inhibitor, bortezomib, has become a backbone for the first line treatment of patients with AL amyloidosis who are not eligible for high dose melphalan and stem cell transplantation. The presence of t(11;14), seen in up to 40-60% of patients with AL amyloidosis, may be associated with poorer response when treated with bortezomib based regimens. This remains a critical distinction in light of recent evidence demonstrating favourable responses to BCL-2 inhibition with venetoclax in patients with t(11;14) in multiple myeloma. Read More

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http://dx.doi.org/10.1080/13506129.2020.1778461DOI Listing

From a misdiagnosis of anorexia nervosa to a dramatic patisiran-induced improvement in a patient with ATTRE89Q amyloidosis.

Amyloid 2020 Jun 9:1-2. Epub 2020 Jun 9.

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

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http://dx.doi.org/10.1080/13506129.2020.1773425DOI Listing

When to suspect transthyretin amyloidosis in cases of isolated vitreous opacities?

Amyloid 2020 Jun 5:1-2. Epub 2020 Jun 5.

Department of Ophthalmology, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, Paris-Sud University, French Reference Center for FAP (NNERF), Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1080/13506129.2020.1772744DOI Listing

The sensitivity of DPD scintigraphy to detect transthyretin cardiac amyloidosis in V30M mutation depends on the phenotypic expression of the disease.

Amyloid 2020 Jun 2:1-10. Epub 2020 Jun 2.

Cardiology Service, Heart and Vessels Department, Centro Hospitalar Universitário Lisboa Norte and Cardiovascular Centre at Universidade de Lisboa, Faculty of Medicine, Lisbon, Portugal.

There is a growing need for a non-invasive test to detect cardiac involvement in patients with transthyretin-related hereditary amyloidosis (ATTR) caused by V30M mutation. Tc-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) scintigraphy is a promising method, but its accuracy in this particular mutation remains unknown. A cohort of 179 patients: 92 with early-onset disease (EoD, symptoms <50-years-old), 33 with late-onset disease (LoD) and 54 asymptomatic carriers were prospectively evaluated and underwent DPD scintigraphy, which was compared with the results of echocardiogram, ambulatory blood pressure monitoring, 24 h-Holter, myocardial I-metaiodobenzylguanidine imaging and NT-proBNP. Read More

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http://dx.doi.org/10.1080/13506129.2020.1744553DOI Listing
June 2020
2.010 Impact Factor

DISCOVERY: prevalence of transthyretin () mutations in a US-centric patient population suspected of having cardiac amyloidosis.

Amyloid 2020 May 26:1-8. Epub 2020 May 26.

Cardiovascular Research Lab for the Elderly at New York-Presbyterian/Columbia Allen Hospital, Columbia University Medical Center, New York, NY, USA.

Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a multisystem disease that presents with polyneuropathy and/or cardiomyopathy. DISCOVERY, a multicenter screening study, enrolled patients with clinically suspected cardiac amyloidosis to determine the frequency of transthyretin () mutations and assess disease characteristics. Of 1007 patients, the majority were from the US (84%), Black/African American (56%), male (63%), and with a mean (standard deviation) age of 65 (13) years. Read More

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http://dx.doi.org/10.1080/13506129.2020.1764928DOI Listing

Pomalidomide and dexamethasone grant rapid haematologic responses in patients with relapsed and refractory AL amyloidosis: a European retrospective series of 153 patients.

Amyloid 2020 May 25:1-6. Epub 2020 May 25.

Medical Department V, Amyloidosis Centrum, University Hospital, University of Heidelberg, Heidelberg, Germany.

Pomalidomide demonstrated activity in the treatment of AL amyloidosis in three phase II clinical trials. We evaluated the safety and efficacy of 28-day cycles of pomalidomide and dexamethasone in 153 previously treated patients with systemic AL amyloidosis. Ninety-nine (65%) were refractory to the last line of therapy and 54 (35%) had relapsed. Read More

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http://dx.doi.org/10.1080/13506129.2020.1767566DOI Listing

Cardiac sympathetic denervation in wild-type transthyretin amyloidosis.

Amyloid 2020 May 22:1-7. Epub 2020 May 22.

Fondazione Toscana Gabriele Monasterio, Pisa, Italy.

Tissue accumulation of misfolded transthyretin (TTR) may occur because of gene mutations (variant amyloid TTR amyloidosis, ATTRv), or as an age-related phenomenon (wild-type ATTR, ATTRwt). Cardiac sympathetic denervation has been reported in ATTRv, but has never been investigated in ATTRwt. Fifteen consecutive patients with ATTRwt cardiomyopathy (81% men, median age 82 years, no one with prior myocardial infarction) underwent Cadmium Zinc Telluride tomographic imaging for amyloid burden (Tc-hydroxymethylene diphosphonate - Tc-HMDP), innervation (I-metaiodobenzylguanidine - I-MIBG and perfusion (Tc-tetrofosmin). Read More

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http://dx.doi.org/10.1080/13506129.2020.1769059DOI Listing

Transthyretin-stabilising mutation T119M is not associated with protection against vascular disease or death in the UK Biobank.

Amyloid 2020 May 19:1-7. Epub 2020 May 19.

Alnylam Pharmaceuticals, Cambridge, MA, USA.

Destabilised transthyretin (TTR) can result in the progressive, fatal disease transthyretin-mediated (ATTR) amyloidosis. A stabilising mutation, T119M, is the basis for a therapeutic strategy to reduce destabilised TTR. Recently, T119M was associated with extended lifespan and lower risk of cerebrovascular disease in a Danish cohort. Read More

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http://dx.doi.org/10.1080/13506129.2020.1758658DOI Listing

Renal calcitonin amyloidosis in a patient with disseminated medullary thyroid carcinoma.

Amyloid 2020 May 19:1-2. Epub 2020 May 19.

Renal Division, Department of Medicine, Peking University First Hospital; Institute of Nephrology, Peking University.

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http://dx.doi.org/10.1080/13506129.2020.1738376DOI Listing

Rapid response to single agent daratumumab is associated with improved progression-free survival in relapsed/refractory AL amyloidosis.

Amyloid 2020 May 15:1-6. Epub 2020 May 15.

National Amyloidosis Centre, University College London, London, UK.

Daratumumab is a monoclonal antibody, which targets CD38; an antigen expressed on malignant plasma cells in AL amyloidosis thus providing a rationale for its use. Patients treated with daratumumab monotherapy (2016-2019) for relapsed/refractory systemic AL amyloidosis were identified from the database at the UK National Amyloidosis Centre. Of 50 evaluable patients, haematological responses at 3 months were: CR - 19 (38%), VGPR - 14 (28%), PR - 9 (18%) and no response - 8 (16%). Read More

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http://dx.doi.org/10.1080/13506129.2020.1765768DOI Listing

Quantification of cardiac amyloid with [F]Flutemetamol in patients with V30M hereditary transthyretin amyloidosis.

Amyloid 2020 May 13:1-9. Epub 2020 May 13.

Department of Radiation Science, Diagnostic Radiology, Umeå University, Umeå, Sweden.

Hereditary transthyretin amyloid (ATTRv) is a systemic amyloidosis with mainly neurological and cardiac symptoms. The aim of this study was to evaluate the outcome of [F]Flutemetamol PET/CT-scan of the heart in long-term survivors with ATTRV30M amyloidosis. Twenty-one patients with ATTRV30M amyloidosis and predominantly neurological symptoms, mainly negative on cardiac technetium-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD)-scintigraphy, were examined with a dynamic [F]Flutemetamol PET/CT-scan. Read More

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http://dx.doi.org/10.1080/13506129.2020.1760237DOI Listing

Two types of systemic amyloidosis in a single patient.

Amyloid 2020 May 6:1-2. Epub 2020 May 6.

National Amyloidosis Centre, University College London Medical School, Royal Free Hospital Campus, London, United Kingdom.

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http://dx.doi.org/10.1080/13506129.2020.1760238DOI Listing

Bioelectrical impedance vector analysis-derived phase angle predicts survival in patients with systemic immunoglobulin light-chain amyloidosis.

Amyloid 2020 Mar 26:1-6. Epub 2020 Mar 26.

Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo and, University Department of Molecular Medicine, University of Pavia, Pavia, Italy.

The aim of the present prospective study (ClinicalTrials.gov Identifier: NCT02111538) was to assess the prognostic value of phase angle (PhA), derived from bioimpedance vectorial analysis (BIVA), in patients affected by systemic amyloid light-chain (AL) amyloidosis. One hundred-twenty seven consecutive newly diagnosed, treatment-naïve patients with histologically confirmed AL amyloidosis were enrolled. Read More

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http://dx.doi.org/10.1080/13506129.2020.1737004DOI Listing

Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.

Amyloid 2020 Mar 4:1-10. Epub 2020 Mar 4.

Assistance Publique-Hôpitaux de Paris (APHP), French National Reference Center for Familial Amyloidotic Polyneuropathy, Centre Hospitalier Universitaire Bicêtre, Universite Paris-Sud, INSERM Unite, Paris, France.

Hereditary transthyretin-mediated (hATTR) amyloidosis is a rare, fatal, multisystem disease leading to deteriorating quality of life (QOL). The impact of patisiran on QOL in patients with hATTR amyloidosis with polyneuropathy from the phase 3 APOLLO study (NCT01960348) is evaluated. Patients received either patisiran 0. Read More

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http://dx.doi.org/10.1080/13506129.2020.1730790DOI Listing

Treatment with daratumumab in patients with relapsed/refractory AL amyloidosis: a multicentric retrospective study and review of the literature.

Amyloid 2020 Feb 28:1-5. Epub 2020 Feb 28.

Hematology Department, Hospital Clinic, Barcelona, Spain.

Management of patients with relapsed or refractory (R/R) AL amyloidosis is complex. Some initial reports have shown positive results with daratumumab in heavily pre-treated AL amyloidosis patients. In this retrospective multicentric study, 38 patients (mean age 64 ± 9 years) with R/R AL amyloidosis treated with daratumumab were included. Read More

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http://dx.doi.org/10.1080/13506129.2020.1730791DOI Listing
February 2020

Lysozyme amyloid: evidence for the W64R variant by proteomics in the absence of the wild type protein.

Amyloid 2020 Feb 18:1-2. Epub 2020 Feb 18.

Wolfson Drug Discovery Unit and National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, University College London, London, UK.

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http://dx.doi.org/10.1080/13506129.2020.1720637DOI Listing
February 2020

Geographic variation in public interest about amyloidosis in the United States and English speaking countries.

Amyloid 2020 Feb 13:1-3. Epub 2020 Feb 13.

Cardiac Amyloidosis Program, Division of Cardiology, Brigham and Women's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1080/13506129.2020.1724941DOI Listing
February 2020

A real-life cohort study of immunoglobulin light-chain (AL) amyloidosis patients ineligible for autologous stem cell transplantation due to severe cardiac involvement or advanced disease.

Amyloid 2020 Jun 13;27(2):119-127. Epub 2020 Feb 13.

Department of Rheumatology & Clinical Immunology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

To study the outcome of patients with AL amyloidosis who were ineligible for high dose melphalan (HDM) and autologous stem cell transplantation (ASCT). A real-life retrospective observational cohort study of Dutch patients with AL amyloidosis ineligible for HDM and ASCT was performed at the University Medical Center Groningen from January 2001 until April 2017. Primary outcome measure was overall survival (OS). Read More

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http://dx.doi.org/10.1080/13506129.2020.1714581DOI Listing

Fluorescence in situ hybridisation combined with CD138 immunomagnetic sorting is effective to identify cytogenetic abnormalities which play significant prognostic roles in Chinese AL amyloidosis patients.

Amyloid 2020 Feb 5:1-2. Epub 2020 Feb 5.

Peking University People's Hospital, Peking University Institute of Haematology, National Clinical Research Center for Haematologic Disease, Beijing, China.

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http://dx.doi.org/10.1080/13506129.2020.1723538DOI Listing
February 2020
2.010 Impact Factor

Restrictive cardiac phenotype as primary cause of impaired aerobic capacity in Afro-Caribbean patients with val122ile variant transthyretin amyloid cardiomyopathy.

Amyloid 2020 Feb 5:1-8. Epub 2020 Feb 5.

Department of Cardiology CHU Martinique, University Hospital of Martinique, Fort de France, France.

Impaired aerobic capacity in cardiac amyloidosis patients may be related to limited inotropic myocardial reserve and heart rate (HR) response limiting cardiac output rise. This study sought to investigate whether chronotropic incompetence (CI) and blunted HR recovery would be prevalent in patients with mutant transthyretin (ATTRv) cardiomyopathy. Eighteen ATTRv (Val122Ile) patients (72 ± 8-year) and 15 age-matched controls (73 ± 3-year) were prospectively enrolled. Read More

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http://dx.doi.org/10.1080/13506129.2020.1722098DOI Listing
February 2020

Renal leukocyte chemotactic factor 2 (ALECT2)-associated amyloidosis in Chinese patients.

Amyloid 2020 Jun 5;27(2):134-141. Epub 2020 Feb 5.

Department of Medicine, Renal Division, Peking University First Hospital; Renal Pathological Center, Institute of Nephrology, Peking University; Key Laboratory of Renal Disease, Ministry of Health of China; Key Laboratory of CKD Prevention and Treatment, Ministry of Education of China, Beijing, PR China.

Leukocyte chemotactic factor 2 (ALECT2) amyloidosis is one of the recently described types of amyloidosis. In this study, we reported the first large case series of renal ALECT2 amyloidosis in Chinese patients. We studied the prevalence, clinical characteristics, renal pathology, outcome and genetic features among seven patients diagnosed with renal ALECT2 amyloidosis at Peking University First Hospital of China from 2000 to 2018. Read More

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http://dx.doi.org/10.1080/13506129.2020.1722097DOI Listing
June 2020
2.010 Impact Factor

CPAD 2.0: a repository of curated experimental data on aggregating proteins and peptides.

Amyloid 2020 Jun 24;27(2):128-133. Epub 2020 Jan 24.

Protein Bioinformatics Lab, Department of Biotechnology, Bhupat and Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras, Chennai, India.

The Curated Protein Aggregation Database (CPAD) is a manually curated and open-access database dedicated to providing comprehensive information related to mechanistic, kinetic and structural aspects of protein and peptide aggregation. The database has been updated to CPAD 2.0 by significantly expanding datasets and improving the user-interface. Read More

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http://dx.doi.org/10.1080/13506129.2020.1715363DOI Listing
June 2020
2.010 Impact Factor

The use of PROMIS patient-reported outcomes (PROs) to inform light chain (AL) amyloid disease severity at diagnosis.

Amyloid 2020 Jun 23;27(2):111-118. Epub 2020 Jan 23.

Division of Hematology/Oncology, Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.

We sought to evaluate how PROMIS patient-reported outcome (PRO) measures correlated with disease characteristics in systemic light chain (AL) amyloidosis patients at diagnosis. Newly diagnosed AL patients were recruited at two centres ( = 61). Patients completed the PROMIS Global Health v1. Read More

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http://dx.doi.org/10.1080/13506129.2020.1713743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275879PMC

Involvement of small nerve fibres and autonomic nervous system in AL amyloidosis: comprehensive characteristics and clinical implications.

Amyloid 2020 Jun 23;27(2):103-110. Epub 2020 Jan 23.

Department of Clinical Therapeutics, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

Peripheral nerve involvement in immunoglobulin light chain (AL) amyloidosis is common, characterised by severe progressive mixed neuropathy with autonomic dysfunction but there is limited data on the implications and the characteristics of small nerve fibres dysfunction (SNFD). The aim of our prospective study was to evaluate SNFD and its clinical implications in newly diagnosed AL patients. Twenty-three consecutive patients (10 male, mean age 61. Read More

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http://dx.doi.org/10.1080/13506129.2020.1713081DOI Listing

Plasma neurofilament light chain: an early biomarker for hereditary ATTR amyloid polyneuropathy.

Amyloid 2020 Jun 6;27(2):97-102. Epub 2020 Jan 6.

Molecular Neurobiology Group, Instituto de Biologia Molecular e Celular (IBMC) - Instituto de Investigação e Inovação em Saúde (i3S) da Universidade do Porto, Porto, Portugal.

Transthyretin amyloidosis due to V30M mutation (ATTR-V30M) is the most frequent hereditary ATTR amyloidosis. Besides neurophysiological measures, there are no biomarkers to detect preclinical disease or monitor disease progression. CSF or plasma neurofilament light chain (pNfL) have recently been considered sensitive biomarkers to quantitate neuro-axonal damage in several disorders of the peripheral and central nervous system. Read More

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http://dx.doi.org/10.1080/13506129.2019.1708716DOI Listing

Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy.

Amyloid 2020 Jun 19;27(2):89-96. Epub 2019 Dec 19.

Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

Hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN) is a rare life-threatening disease that imposes considerable mortality and morbidity associated with increased costs, high social support and productivity losses. This study aims to estimate the societal costs and burden of ATTRv-PN. A cost-of-illness (COI) and burden of disease model were specified from a societal perspective, using a prevalence-based approach. Read More

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http://dx.doi.org/10.1080/13506129.2019.1701429DOI Listing

Markers of nutritional status and inflammation in transthyretin cardiac amyloidosis: association with outcomes and the clinical phenotype.

Amyloid 2020 Jun 11;27(2):73-80. Epub 2019 Dec 11.

NewYork-Presbyterian Hospital/Columbia University Medical Center, New York, NY, USA.

Patients with transthyretin (TTR) cardiac amyloidosis demonstrate cardiac cachexia with progression of their cardiomyopathy, which is characterised by malnutrition and a heightened inflammatory state. How best to measure this condition is less well characterised. We investigated differences in survival among patients with ATTR cardiac amyloidosis by nutritional status as defined by modified BMI (mBMI) and by inflammatory state as defined by serum uric acid. Read More

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http://dx.doi.org/10.1080/13506129.2019.1698417DOI Listing

Severe elastolysis in hereditary gelsolin (AGel) amyloidosis.

Amyloid 2020 Jun 9;27(2):81-88. Epub 2019 Dec 9.

Department of Neurosciences, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

AGel amyloidosis is a dominantly inherited systemic amyloidosis caused by mutations p.D214N or p.D214Y resulting in gelsolin amyloid (AGel) formation. Read More

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http://dx.doi.org/10.1080/13506129.2019.1699785DOI Listing

Late-onset peripheral neuropathy in patients with wild type transthyretin amyloidosis (wtATTR).

Amyloid 2020 06 29;27(2):142-143. Epub 2019 Nov 29.

Department of Neurology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1080/13506129.2019.1697224DOI Listing

Causes of AA amyloidosis: a systematic review.

Amyloid 2020 Mar 25;27(1):1-12. Epub 2019 Nov 25.

Departments of Rheumatology & Clinical Immunology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

From a clinical perspective, there is a need for a reliable and comprehensive list of diseases causing AA amyloidosis. This list could guide clinicians in the evaluation of patients with AA amyloidosis in whom an obvious cause is lacking. In this systematic review, a PubMed, Embase and Web of Science literature search were performed on causes of AA amyloidosis published in the last four decades. Read More

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http://dx.doi.org/10.1080/13506129.2019.1693359DOI Listing
March 2020
4 Reads

Immunoelectron microscopy and mass spectrometry for classification of amyloid deposits.

Amyloid 2020 Mar 21;27(1):59-66. Epub 2019 Nov 21.

Odense Amyloidosis Centre, Odense, Denmark.

Amyloidosis is a shared name for several rare, complex and serious diseases caused by extra-cellular deposits of different misfolded proteins. Accurate characterization of the amyloid protein is essential for patient care. Immunoelectron microscopy (IEM) and laser microdissection followed by tandem mass spectrometry (LMD-MS) are new gold standards for molecular subtyping. Read More

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http://dx.doi.org/10.1080/13506129.2019.1688289DOI Listing

Coexistence of wild type and hereditary ATTR amyloidosis in one family.

Amyloid 2020 Mar 13;27(1):71-72. Epub 2019 Nov 13.

Rheumatology & Clinical Immunology, Amyloidosis Center of Expertise, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1080/13506129.2019.1690444DOI Listing

Inotersen therapy of transthyretin amyloid cardiomyopathy.

Amyloid 2020 Mar 12;27(1):52-58. Epub 2019 Nov 12.

Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.

Cardiomyopathy is a major cause of death in patients with systemic transthyretin amyloidosis. Long term effect of therapy designed to inhibit hepatic production of the amyloid precursor has not been established in cardiomyopathy. The purpose of this study was to evaluate the long term safety and efficacy of transthyretin specific antisense oligonucleotide therapy, inotersen, in transthyretin cardiomyopathy. Read More

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http://dx.doi.org/10.1080/13506129.2019.1685487DOI Listing

APOE polymorphism in ATTR amyloidosis patients treated with lipid nanoparticle siRNA.

Amyloid 2020 Mar 25;27(1):45-51. Epub 2019 Oct 25.

Medizinische Klinik B für Gastroenterologie und Hepatologie, Universitätsklinikum Münster, Münster, Germany.

The novel class of compounds represented by lipid nanoparticle (LNP)-encapsulated siRNA formulations has an enormous potential to target disease, notably of the liver. Endocytosis of LNPs is believed to be mediated by APOE, an important serum protein of lipoprotein homeostasis. APOE polymorphisms affect binding to hepatic receptors and have been associated with development of specific disease. Read More

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http://dx.doi.org/10.1080/13506129.2019.1681392DOI Listing

Genomic profiling in amyloid light-chain amyloidosis reveals mutation profiles associated with overall survival.

Amyloid 2020 Mar 22;27(1):36-44. Epub 2019 Oct 22.

Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Amyloid light chain (AL) amyloidosis is characterized by tissue deposition of amyloid fibres derived from immunoglobulin that can lead to irreversible organ damage. Information about genomic profiles of AL amyloidosis is lacking. In this study, we adopted a two-step strategy to investigate the mutational profile of AL amyloidosis bone marrow plasma cells (PCs) and their clinical implications. Read More

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http://dx.doi.org/10.1080/13506129.2019.1678464DOI Listing
March 2020
1 Read

Needle-shaped amyloid deposition in rat mammary gland: evidence of a novel amyloid fibril protein.

Amyloid 2020 Mar 15;27(1):25-35. Epub 2019 Oct 15.

Pathology Department, Nonclinical Research Center, Drug Development Service Segment, LSI Medicine Corporation, Uto, Japan.

Amyloidosis is an extremely rare event in rats. In this study, we report that lipopolysaccharide binding protein (LBP) is the most likely amyloidogenic protein in rat mammary amyloidosis. Histologically, corpora amylacea (CA) and stromal amyloid (SA) were observed in rat mammary glands, and needle-shaped amyloid (NA) was also observed on the surface or gap of CA and SA. Read More

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http://dx.doi.org/10.1080/13506129.2019.1675623DOI Listing

The utility of repeat kidney biopsy in systemic immunoglobulin light chain amyloidosis.

Amyloid 2020 Mar 9;27(1):17-24. Epub 2019 Oct 9.

Renal Section, Department of Medicine, Boston Medical Center, Boston, MA, USA.

The diagnostic utility of repeat kidney biopsy in AL amyloidosis patients in complete (CR) or very good partial hematologic response (VGPR) but with renal organ relapse is not clear. We present eight patients with AL amyloidosis who had a repeat kidney biopsy performed. AL amyloidosis was initially diagnosed by a kidney biopsy. Read More

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http://dx.doi.org/10.1080/13506129.2019.1672650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6960349PMC
March 2020
3 Reads

Misdiagnosis of hATTR amyloidosis: a single US site experience.

Amyloid 2020 Mar 4;27(1):69-70. Epub 2019 Oct 4.

Department of Cardiology, Oregon Health & Science University.

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http://dx.doi.org/10.1080/13506129.2019.1672649DOI Listing

Response: concerning "late early and late onset" ATTR Val30Met patients.

Authors:
Ole B Suhr

Amyloid 2019 12 26;26(4):250. Epub 2019 Sep 26.

Department of Public Health and Clinical Medicine, Umeå University , Umeå , Sweden.

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http://dx.doi.org/10.1080/13506129.2019.1642192DOI Listing
December 2019

Prevalence of variants detected by whole-exome sequencing in hypertrophic cardiomyopathy.

Amyloid 2019 Dec 25;26(4):243-247. Epub 2019 Sep 25.

St. Bartholomew's Centre for Inherited Cardiovascular Disease, St Bartholomew's Hospital , London , UK.

A proportion of patients with hypertrophic cardiomyopathy (HCM) have a diagnosis of cardiac amyloidosis. Hereditary transthyretin amyloid cardiomyopathy (ATTRv-CM) is caused by mutations in the gene. Our aim was to study the prevalence of potentially amyloidogenic variants in a whole-exome sequencing (WES) study of a large HCM cohort. Read More

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http://dx.doi.org/10.1080/13506129.2019.1665996DOI Listing
December 2019
2 Reads

Survival impact of achieving minimal residual negativity by multi-parametric flow cytometry in AL amyloidosis.

Amyloid 2020 Mar 23;27(1):13-16. Epub 2019 Sep 23.

Division of Hematology, Mayo Clinic, Rochester, MN, USA.

Response assessment in light chain (AL) amyloidosis is challenging given the low level of circulating free light chains usually seen. Multi-parametric flow cytometry (MFC) from a marrow aspirate was demonstrated to retain a prognostic significance in several recent studies. In this work, 82 AL patients who had MFC study at end of therapy were analysed based on whether clonal plasma cells were detected or not. Read More

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http://dx.doi.org/10.1080/13506129.2019.1666709DOI Listing
March 2020
2.010 Impact Factor

Sjögren syndrome-related plasma cell disorder and multifocal nodular AL amyloidosis: clinical picture and pathological findings.

Amyloid 2019 Dec 18;26(4):225-233. Epub 2019 Sep 18.

Department of Diagnostic Pathology, Yamaguchi University Hospital , Ube , Japan.

Localized nodular deposits of AL amyloid are seen in different tissues/organs; however, the pathogenesis of this form of amyloidosis remains unclear. Recently, Sjögren syndrome combined with localized nodular AL amyloidosis has been noted. Here, we report Sjögren syndrome cases showing multifocal nodular AL amyloidosis and the followed benign course. Read More

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http://dx.doi.org/10.1080/13506129.2019.1660636DOI Listing
December 2019
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Bortezomib-based treatment can improve factor X activity in immunoglobulin light-chain amyloidosis with factor X deficiency.

Amyloid 2019 Dec 17;26(4):255-256. Epub 2019 Sep 17.

Department of Hematology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing , PR China.

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http://dx.doi.org/10.1080/13506129.2019.1663815DOI Listing
December 2019
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Association between hearing loss and hereditary ATTR amyloidosis.

Amyloid 2019 Dec 10;26(4):234-242. Epub 2019 Sep 10.

Department of Oto-Rhino-Laryngo Surgery, Centre Hospitalier Intercommunal de Créteil , Créteil , France.

Hereditary transthyretin (TTR) related amyloidosis (ATTRv) is a life-threatening condition, which can potentially affect all organs. The objective was to identify the hearing status of patients with cardiac ATTRv and describe their audiological pattern. Nineteen patients with confirmed diagnosis of ATTRv cardiac amyloidosis (CA) underwent otoscopy and audiological tests, including pure tone and speech audiometry. Read More

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http://dx.doi.org/10.1080/13506129.2019.1663814DOI Listing
December 2019
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