28,775 results match your criteria Amyloidosis Primary Systemic


Evaluation of the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of a Single Intravenous Dose of Miridesap in Healthy Japanese Subjects.

Clin Pharmacol Drug Dev 2018 Dec 17. Epub 2018 Dec 17.

Medicines Development, Japan Development Division, GlaxoSmithKline K.K., Tokyo, Japan.

This phase 1 study characterized the safety, tolerability, pharmacokinetics, and pharmacodynamics of miridesap (GSK2315698) following an intravenous (IV) infusion in healthy Japanese men. Subjects in Cohort 1 received 1-hour IV infusions of 10, 20, and 40 mg of miridesap or placebo, and subjects in Cohort 2 received a 15-hour IV infusion of 20 mg/h of miridesap or placebo. No treatment-related adverse events were reported. Read More

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December 2018

Infection-Induced Kidney Diseases.

Front Med (Lausanne) 2018 28;5:327. Epub 2018 Nov 28.

Department of Nephrology and Renal Transplantation, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

Infection induced kidney diseases are of concern for clinicians because timely detection and treatment of infections may cure or limit the extent of injury inflicted by microorganisms causing the infections. Infections can cause kidney injury by either direct invasion, or indirectly by immune mediated mechanisms, which manifest as post-infectious glomerulonephritis, or infection-related glomerulonephritis. Clinical manifestations may be acute or chronic depending on the microorganisms, endemic/epidemic nature and source of infection. Read More

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November 2018

Relative Left Ventricular Apical Sparing of Longitudinal Strain in Cardiac Amyloidosis: Is it Just Amyloid Infiltration?

JACC Cardiovasc Imaging 2018 Dec 6. Epub 2018 Dec 6.

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

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December 2018

Prognosticating in Cardiac Amyloidosis: Let Me Count the Ways.

JACC Cardiovasc Imaging 2018 Dec 6. Epub 2018 Dec 6.

Department of Internal Medicine, Division of Cardiology, Center for Cardiac Amyloidosis, Columbia University Medical Center, New York, New York. Electronic address:

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December 2018

Amyloid Cardiomyopathy in the Emergency Department.

J Emerg Med 2018 Dec 12. Epub 2018 Dec 12.

Department of Emergency Medicine, Mount Sinai Medical Center, Miami Beach, Florida; Emergency Department Ultrasonography, Mount Sinai Medical Center, Miami Beach, Florida.

Background: Cardiac amyloidosis is an underdiagnosed cause of restrictive cardiomyopathy resulting from the infiltration of the myocardium by amyloid proteins.

Case Report: We report the case of an 83-year-old woman who presented with increasing dyspnea and lower-extremity swelling. She reported a medical history of unspecified heart failure. Read More

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December 2018
3 Reads

Hereditary cardiac amyloidosis associated with Pro24Ser transthyretin mutation: a case report.

J Med Case Rep 2018 Dec 16;12(1):370. Epub 2018 Dec 16.

Department of Clinical Research, Chiba Tokushukai Hospital, Chiba, Japan.

Background: Transthyretin amyloidosis is a systemic disorder caused by extracellular deposition of insoluble amyloid fibrils in peripheral and autonomic nerves, heart, kidney, gastrointestinal tract, and other organs. Hereditary transthyretin amyloidosis is an autosomal dominant disease. More than 120 mutations have been reported in the transthyretin gene with considerable phenotypic heterogeneity and geographic diversity. Read More

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December 2018
1 Read

What's new in autoinflammation?

Authors:
Seza Ozen

Pediatr Nephrol 2018 Dec 14. Epub 2018 Dec 14.

Department of Pediatrics, Hacettepe University, Ankara, Turkey.

The pathogenesis of autoinflammatory diseases has shed light on the concept of inflammation in general and on our understanding of the role of the innate immune system. The autoinflammatory diseases have a large spectrum with varying features of inflammation. The most common autoinflammatory diseases are those associated with periodic fevers. Read More

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December 2018
1 Read

Development of transgenic Caenorhabditis elegans expressing human transthyretin as a model for drug screening.

Sci Rep 2018 Dec 14;8(1):17884. Epub 2018 Dec 14.

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto, 860-8556, Japan.

Familial amyloid polyneuropathy is a hereditary systemic amyloidosis caused by a mutation in the transthyretin (TTR) gene. Amyloid deposits in tissues of patients contain not only full-length TTR but also C-terminal TTR fragments. However, in vivo models to evaluate the pathogenicity of TTR fragments have not yet been developed. Read More

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December 2018

Kidney embolization induces prompt organ response in a 86-year-old patient with MGRS-related AL-amyloidosis.

Hemodial Int 2018 Dec 13. Epub 2018 Dec 13.

Department of Hematology, Oncology and Stem Cell Transplantation, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Despite substantial improvements following the introduction of novel agents and antibodies, amyloid light-chain (AL)-amyloidosis still carries a grim prognosis. Here, we report on the case of a severely frail 86-year-old patient suffering from monoclonal gammopathy of renal significance (MGRS)-associated AL-amyloidosis with a diuretic-refractory nephrotic syndrome. In this patient, treatment with bortezomib-dexamethasone effectively induced a serological response, but was unfortunately poorly tolerated and failed to promote renal recovery fast enough to prevent secondary complications. Read More

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December 2018

[Borderline left ventricular ejection fraction is associated with alterations in mitral annular size and function. Results from the three-dimensional speckle-tracking echocardiographic MAGYAR-Healthy Study].

Orv Hetil 2018 Dec;159(50):2129-2135

II. Belgyógyászati Klinika és Kardiológiai Központ, Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ Szeged, Semmelweis u. 8., 6725.

Introduction: Morphology and function of the mitral annulus (MA) shows alterations in different valvular (for instance in mitral regurgitation) and non-valvular disorders (for instance in certain cardiomyopathies, cardiac amyloidosis).

Aim: The aim of the present study was to examine the relationship between MA morphologic and functional properties and three-dimensional speckle-tracking echocardiography- (3DSTE) derived left ventricular (LV) ejection fraction (EF) in subjects with normal versus borderline LV-EF.

Method: The present study comprised 146 volunteers (mean age: 32. Read More

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December 2018

Quantum dots as promising theranostic tools against amyloidosis: A review.

Protein Pept Lett 2018 Dec 11. Epub 2018 Dec 11.

Department of Biotechnology and Medical Engineering, National Institute of Technology Rourkela, Rourkela- 769008, Odisha. India.

Amyloids are highly ordered beta sheet rich stable protein aggregates, which have been found to play a significant role in the onset of several degenerative diseases such as Alzheimer's disease, Huntington's disease, Parkinson's disease, Type II diabetes mellitus and so on. Aggregation of proteins leading to amyloid fibril formation via intermediate(s), is thought to be a nucleated condensation polymerization process associated with many pathological conditions. There has been extensive research to identify inhibitors of these disease oriented aggregation processes. Read More

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December 2018

Flow cytometry for fast screening and automated risk assessment in systemic light-chain amyloidosis.

Leukemia 2018 Dec 12. Epub 2018 Dec 12.

Clinica Universidad de Navarra, Centro de Investigacion Medica Aplicada (CIMA), IDISNA, CIBERONC Pamplona, Pamplona, Spain.

Early diagnosis and risk stratification are key to improve outcomes in light-chain (AL) amyloidosis. Here we used multidimensional-flow-cytometry (MFC) to characterize bone marrow (BM) plasma cells (PCs) from a series of 166 patients including newly-diagnosed AL amyloidosis (N = 94), MGUS (N = 20) and multiple myeloma (MM, N = 52) vs. healthy adults (N = 30). Read More

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December 2018

Treatment of multiple myeloma with renal involvement: the nephrologist's view.

Clin Kidney J 2018 Dec 1;11(6):777-785. Epub 2018 Aug 1.

Nephrology Department, Hospital Universitari de Bellvitge, Idibell, Barcelona, Spain.

Renal injury is a common complication in multiple myeloma (MM). In fact, as many as 10% of patients with MM develop dialysis-dependent acute kidney injury related to increased free light chain (FLC) production by a plasma cell clone. Myeloma cast nephropathy (MCN) is the most prevalent pathologic diagnosis associated with renal injury, followed by light chain deposition disease and light chain amyloidosis. Read More

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December 2018

Correction: Association of anxiety with subcortical amyloidosis in cognitively normal older adults.

Mol Psychiatry 2018 Dec 11. Epub 2018 Dec 11.

Center for Alzheimer Research and Treatment, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

This Article was originally published under Nature Research's License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly. Read More

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December 2018

Fluid and PET biomarkers for amyloid pathology in Alzheimer's disease.

Mol Cell Neurosci 2018 Dec 8. Epub 2018 Dec 8.

Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Molndal, Sweden; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, University College, London, United Kingdom of Great Britain and Northern Ireland; Department of Molecular Neuroscience, UCL Institute of Neurology, United Kingdom of Great Britain and Northern Ireland; UK Dementia Research Institute at UCL, United Kingdom of Great Britain and Northern Ireland.

Alzheimer's disease (AD) is characterized by amyloid plaques and tau pathology (neurofibrillary tangles and neuropil threads). Amyloid plaques are primarily composed of aggregated and oligomeric β-amyloid (Aβ) peptides ending at position 42 (Aβ42). The development of fluid and PET biomarkers for Alzheimer's disease (AD), has allowed for detection of Aβ pathology in vivo and marks a major advancement in understanding the role of Aβ in Alzheimer's disease (AD). Read More

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December 2018
2 Reads

Molecular phenotyping of infiltrative cardiomyopathies: The future.

J Nucl Cardiol 2018 Dec 10. Epub 2018 Dec 10.

Department of Cardiology, Cornell University Medical Center, New York, USA.

Cardiac sarcoidosis and amyloidosis have gained recent attention due to substantial advances in imaging and management. In this issue of the Journal of Nuclear Cardiology, imaging experts discuss the role of microvascular perfusion, innervation, targeted imaging of the heart and whole body, and novel molecular targets for imaging inflammation, fibrosis, and amyloidosis. In addition to cutting edge science, experts provide, for the first time, a patient page with information for patients with sarcoidosis and amyloidosis. Read More

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December 2018

Effect of interleukin-1 antagonists on the quality of life in familial Mediterranean fever patients.

Clin Rheumatol 2018 Dec 10. Epub 2018 Dec 10.

Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Gazi University, 06100, Ankara, Turkey.

Background: Familial Mediterranean fever (FMF) patients suffer from chronic complications of disease such as AA amyloidosis, chronic arthritis, and spondylitis. Reduced quality of life (QoL) is a feature of chronic diseases but it is also impaired in patients with FMF. Despite the regular use of colchicine at a maximal dose, about 10% of patients do not respond well or resistant to colchicine (crFMF). Read More

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December 2018

Role of the mTOR‑FOXO1 pathway in obesity‑associated renal tubulointerstitial inflammation.

Mol Med Rep 2018 Dec 5. Epub 2018 Dec 5.

Department of Endocrinology and Metabolism, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, P.R. China.

Since obesity is largely responsible for the growing incidence of renal tubulointerstitial inflammation, exploration into the mechanisms of obesity‑associated tubulointerstitial inflammation is essential. Studies have demonstrated that mammalian target of rapamycin (mTOR) is a crucial molecule in the pathogenesis of renal inflammation, including regulating the expression of inflammatory factors. The purpose of the present study was to further elucidate the role of mTOR in obesity‑associated tubulointerstitial inflammation. Read More

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December 2018
1 Read

Stability of the N-Terminal Helix and Its Role in Amyloid Formation of Serum Amyloid A.

ACS Omega 2018 Nov 29;3(11):16184-16190. Epub 2018 Nov 29.

Department of Chemistry & Biochemistry, University of Oklahoma, 101 Stephenson Parkway, Norman, Oklahoma 73019, United States.

Colonic amyloidosis is the result of overexpression of the serum amyloid A (SAA) protein in inflammatory bowel disease or colon cancer. Crucial for amyloid formation are the first ten N-terminal residues, which in the crystal structure are a part of a 27-residue long helix. Here, we study this 27-residue N-terminal region of SAA by a multiexchange variant of replica exchange molecular dynamics. Read More

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November 2018

Enhanced Photoresponsive Graphene oxide-modified g-C3N4 for Disassembly of Amyloid β Fibrils.

ACS Appl Mater Interfaces 2018 Dec 11. Epub 2018 Dec 11.

Protein misfolding and abnormal self-assembly lead to the aggregates of oligomer, fibrils, or senior amyloid plaques, which is associated with the pathogenesis of many neurodegenerative diseases. Progressive cerebral accumulation of amyloid β-protein (Aβ) was widely proposed to explain the cause of Alzheimer's disease, for which one promising direction of preclinical study is to convert the β-sheet structure of amyloid aggregates into innocent structures. However, the conversion is even harder than the modulation of amyloidosis process. Read More

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December 2018

Graft rejection-like reactions in the early postoperative period after deep anterior lamellar keratoplasty for keratoconus: a retrospective study.

Clin Ophthalmol 2018 14;12:2315-2322. Epub 2018 Nov 14.

Department of Ophthalmology, Japan Community Health Care Organization Hoshigaoka Medical Center, Hirakata, Osaka 573-8511, Japan.

Background: Deep anterior lamellar keratoplasty (DALK) is indicated to correct high astigmatism in patients with keratoconus (KC) and no evidence of Descemet's membrane rupture. However, some patients with KC experience graft rejection-like inflammatory reactions within 2 months (usually in the first week) after DALK. The aim of this study was to identify the characteristics and influencing factors of these reactions by reviewing the records of patients who underwent DALK or penetrating keratoplasty (PKP) for KC or other corneal problems. Read More

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November 2018

Autologous Stem Cell Transplant for IgM Associated AL amyloidosis.

Biol Blood Marrow Transplant 2018 Dec 7. Epub 2018 Dec 7.

Division of Hematology, Department of Internal Medicine, Mayo Clinic Rochester. Electronic address:

IgM related AL amyloidosis is a rare disease with patients presenting with more renal and neurological involvement and less cardiac involvement compared to those with non-IgM related disease. We retrospectively reviewed 38 patients receiving autologous stem cell transplant (ASCT) for IgM related AL amyloidosis at the Mayo Clinic between May 1999 and June 2018. Median age was 61 years and 71% were male. Read More

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December 2018

AA amyloidosis associated with morbid obesity (clinical case).

Reumatol Clin 2018 Dec 4. Epub 2018 Dec 4.

Pathological Anatomy Service, Cabueñes Hospital, Gijón, Asturias, Spain.

We present the case of a 45-year-old woman who was hospitalized due to severe macrocytic anemia and renal failure. The patient presented a morbid obesity. The immunological study showed anti-ENA anti-SSA (Ro52) positive, with negative antinuclear antibodies. Read More

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December 2018
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Image Gallery: Dermoscopy of lichen amyloidosis.

Br J Dermatol 2018 Dec;179(6):e231

Dermatology Unit, University of Campania, Nuovo Policlinico (Edificio 9C), Via Pansini 5, 80131, Naples, Italy.

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December 2018
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Recent Advances in Oligonucleotide-Based Therapy for Transthyretin Amyloidosis: Clinical Impact and Future Prospects.

Biol Pharm Bull 2018 ;41(12):1737-1744

Department of Pharmacy, Kumamoto University Hospital.

Transthyretin (TTR) amyloidosis, also known as transthyretin-related familial amyloidotic polyneuropathy (ATTR-FAP), is a fatal hereditary systemic amyloidosis caused by mutant forms of TTR. Although conventional treatments for ATTR-FAP, such as liver transplantation (LT) and TTR tetramer stabilizer, reportedly halt the progression of clinical manifestation, these therapies have several limitations. Oligonucleotide-based therapy, e. Read More

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January 2018
1 Read

[Bone seeking tracers' scintigraphy for the diagnosis of transthyretin cardiac amyloidosis].

Medicina (B Aires) 2018 ;78(6):395-398

Sección Medicina Nuclear, Servicio de Diagnóstico por Imágenes, Instituto Cardiovascular de Buenos Aires (ICBA), Buenos Aires, Argentina.

Transthyretin cardiac amyloidosis (ATTR) is a restrictive cardiomyopathy that leads to heart failure in considerable number of patients. Early diagnosis allows specific treatment options. However, ATTR diagnosis is complex and requires invasive procedures. Read More

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January 2018
1 Read

[Tubulointerstitiel nephritis and Crohn's disease, nephrotoxicity or extraintestinal manifestation of Crohn's disease? About a case].

Nephrol Ther 2018 Nov 29. Epub 2018 Nov 29.

Laboratoire d'anatomie pathologique, CHRU de Nancy, 5, rue de Morvan, 54500 Vandœuvre-lès-Nancy, France.

Extraintestinal manifestations in inflammatory bowel disease involve most frequently the joints, the skin, the eyes, the liver and the biliary tract. Renal involvement is rare, and manifested as nephrolithiasis, tubulointerstitial nephritis, glomerulonephritis and amyloidosis. In patients with inflammatory bowel disease, renal disease is most frequently due to treatment nephrotoxicity and rarely as a guenine extraintestinal manifestation of inflammatory bowel disease. Read More

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November 2018
2 Reads

Parotid abscess secondary to brucellosis in a patient with primary Sjögren's syndrome.

Eur J Rheumatol 2018 Mar;5(1):62-64

Department of Rheumatology, Fırat University School of Medicine, Elazığ, Turkey.

Swelling in the salivary glands, particularly parotid glands, is observed in approximately one third of Sjögren's syndrome patients. However, such patients should be assessed in terms of causes such as malignancies, infections, amyloidosis, sarcoidosis, and other autoimmune diseases when parotid gland swelling is noted. It should be considered that the incidence of lymphoma increases in Sjögren's syndrome. Read More

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March 2018
1 Read

IL1-blocking therapy in colchicine-resistant familial Mediterranean fever.

Eur J Rheumatol 2018 Dec 12;5(4):230-234. Epub 2018 Oct 12.

Division of Rheumatology, Department of Internal Medicine, Heidelberg University Hospital, Heidelberg, Germany.

Objective: Approximately 10%-20% of patients with familial Mediterranean fever (FMF) show an inadequate response to colchicine. In our cohort study, patients with FMF with or without amyloidosis and with an inadequate response to colchicine were treated with anakinra or canakinumab.

Methods: Clinical and laboratory parameters, Mediterranean fever (MEFV) mutations, and patient-reported outcomes were analyzed in 31 patients treated with anakinra or canakinumab. Read More

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December 2018
1 Read

Imaging cardiac amyloidosis: Patient page.

J Nucl Cardiol 2018 Dec 4. Epub 2018 Dec 4.

Cardiac Amyloidosis Program, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

Amyloidosis is a disease that develops when abnormally folded proteins collect together to form amyloid fibrils, which deposit in various organs and cause organ damage. Amyloidosis in the heart can be identified by using various imaging tests. This patient page provides an overview of imaging in cardiac amyloidosis. Read More

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December 2018
8 Reads

Haematological response and overall survival in two consecutive Dutch patient cohorts with AL amyloidosis diagnosed between 2008 and 2016.

Amyloid 2018 Dec 4:1-7. Epub 2018 Dec 4.

a Department of Haematology , Utrecht University, University Medical Centre Utrecht , Utrecht , The Netherlands.

Background: Although survival has improved in recent decades, the short-term prognosis of patients with immunoglobulin light chain (AL) amyloidosis remains grim. We aimed to assess overall survival (OS) of AL amyloidosis patients by comparing cohorts in two consecutive time periods.

Methods: Data were collected and compared on 126 patients from two tertiary referral centres in The Netherlands during the time periods 2008-2012 and 2013-2016. Read More

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December 2018
5 Reads

Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide.

Case Rep Hematol 2018 28;2018:9615834. Epub 2018 Oct 28.

Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.

A 70-year-old female presented with a three-year history of evolving macroglossia causing dysphagia and dysarthria, with proximal muscle weakness. Given the classic physical finding of macroglossia, the patient underwent extensive evaluation for amyloidosis which proved to be negative apart from a bone marrow biopsy which stained positive for transthyretin without amino acid sequence abnormality, thus giving wild-type transthyretin amyloidosis. Since the wild-type transthyretin amyloidosis could not entirely explain her clinical presentation and evaluation, further studies were conducted in a sequential manner, thus leading to a diagnosis of Pompe disease explaining her presenting signs and symptoms including her macroglossia. Read More

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October 2018
1 Read

The evaluation of monoclonal gammopathy of renal significance: a consensus report of the International Kidney and Monoclonal Gammopathy Research Group.

Nat Rev Nephrol 2019 Jan;15(1):45-59

Division of Nephrology, Hematology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

The term monoclonal gammopathy of renal significance (MGRS) was introduced by the International Kidney and Monoclonal Gammopathy Research Group (IKMG) in 2012. The IKMG met in April 2017 to refine the definition of MGRS and to update the diagnostic criteria for MGRS-related diseases. Accordingly, in this Expert Consensus Document, the IKMG redefines MGRS as a clonal proliferative disorder that produces a nephrotoxic monoclonal immunoglobulin and does not meet previously defined haematological criteria for treatment of a specific malignancy. Read More

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January 2019
2 Reads

Diagnosis of cardiac amyloidosis: a systematic review on the role of imaging and biomarkers.

BMC Cardiovasc Disord 2018 Dec 4;18(1):221. Epub 2018 Dec 4.

3rd Cardiology Department, Ippokrateion General Hospital of Thessaloniki, Konstantinoupoleos 49, 55 642, Thessaloniki, GR, Greece.

Background: Cardiac Amyloidosis (CA) pertains to the cardiac involvement of a group of diseases, in which misfolded proteins deposit in tissues and cause progressive organ damage. The vast majority of CA cases are caused by light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR). The increased awareness of these diseases has led to an increment of newly diagnosed cases each year. Read More

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December 2018
5 Reads

Conjunctival Colloid Milium.

Cornea 2018 Nov 27. Epub 2018 Nov 27.

Department of Pathology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.

Purpose: To describe a rare case of conjunctival colloid milium.

Methods: Case report.

Results: We report a 45-year-old woman with a history of a slow-growing, painless mass extending from the medial canthal region to the inferior fornix and the inferior bulbar conjunctiva associated with redness. Read More

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November 2018
2 Reads

Correlations between plasma and PET beta-amyloid levels in individuals with subjective cognitive decline: the Fundació ACE Healthy Brain Initiative (FACEHBI).

Alzheimers Res Ther 2018 Nov 29;10(1):119. Epub 2018 Nov 29.

Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya-Barcelona, C/ Marquès de Sentmenat, 57, 08029, Barcelona, Spain.

Background: Peripheral biomarkers that identify individuals at risk of developing Alzheimer's disease (AD) or predicting high amyloid beta (Aβ) brain burden would be highly valuable. To facilitate clinical trials of disease-modifying therapies, plasma concentrations of Aβ species are good candidates for peripheral AD biomarkers, but studies to date have generated conflicting results.

Methods: The Fundació ACE Healthy Brain Initiative (FACEHBI) study uses a convenience sample of 200 individuals diagnosed with subjective cognitive decline (SCD) at the Fundació ACE (Barcelona, Spain) who underwent amyloid florbetaben(F) (FBB) positron emission tomography (PET) brain imaging. Read More

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November 2018
1 Read

Prion pathogenesis is unaltered in a mouse strain with a permeable blood-brain barrier.

PLoS Pathog 2018 Nov 29;14(11):e1007424. Epub 2018 Nov 29.

Institute of Neuropathology, University Hospital Zürich, Zürich University, Zürich, Switzerland.

Transmissible spongiform encephalopathies (TSEs) are caused by the prion, which consists essentially of PrPSc, an aggregated, conformationally modified form of the cellular prion protein (PrPC). Although TSEs can be experimentally transmitted by intracerebral inoculation, most instances of infection in the field occur through extracerebral routes. The epidemics of kuru and variant Creutzfeldt-Jakob disease were caused by dietary exposure to prions, and parenteral administration of prion-contaminated hormones has caused hundreds of iatrogenic TSEs. Read More

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November 2018
2 Reads

Exon 2: Is it the good police in familial mediterranean fever?

Eur J Rheumatol 2018 Oct 12. Epub 2018 Oct 12.

Division of Rheumatology, Department of Internal Medicine, Dokuz Eylül University School of Medicine, İzmir, Turkey.

Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Read More

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October 2018
3 Reads

An indirect treatment comparison of the efficacy of patisiran and tafamidis for the treatment of hereditary transthyretin-mediated amyloidosis with polyneuropathy.

Expert Opin Pharmacother 2018 Nov 29. Epub 2018 Nov 29.

e Johns Hopkins University , Baltimore , MD , USA.

Background: Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a progressive, life-threatening disease. Until recently, tafamidis was the only approved pharmacotherapy. Patisiran significantly improved polyneuropathy and Quality of life (QoL) in the phase III APOLLO study. Read More

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November 2018
2 Reads

Long-term response to daratumumab in a patient with advanced immunoglobulin light-chain (AL) amyloidosis with organ damage.

Ann Hematol 2018 Nov 28. Epub 2018 Nov 28.

Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Via Benevento 6, 00161, Rome, Italy.

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November 2018
1 Read

Disrupted radial and tibial microarchitecture in patients with monoclonal gammopathy of undetermined significance.

Osteoporos Int 2018 Nov 28. Epub 2018 Nov 28.

Division of Endocrinology, Columbia University College of Physicians and Surgeons, New York, NY, USA.

Patients with monoclonal gammopathy of undetermined significance (MGUS) had abnormalities in volumetric BMD (vBMD), microarchitecture, and stiffness at both the radius and tibia by high-resolution peripheral quantitative CT compared to matched controls. This is the first report demonstrating that patients with MGUS have microarchitectural deficits at multiple skeletal sites.

Introduction: Fracture risk is elevated in patients with monoclonal gammopathy of undetermined significance (MGUS). Read More

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November 2018
2 Reads

Origin of sporadic late-onset hereditary ATTR Val30Met amyloidosis in Japan.

Amyloid 2018 Sep;25(3):143-147

a Department of Neurology, Graduate School of Medical Sciences , Kumamoto University , Kumamoto , Japan.

Hereditary transthyretin (ATTRm) amyloidosis, formerly known as familial amyloid polyneuropathy, is a major type of hereditary systemic amyloidosis, in which the disease is caused by mutant transthyretin (TTR). Although more than 140 different point mutations have been identified in the TTR gene, ATTRm amyloidosis patients with the TTR Val30Met mutation are most frequently found worldwide. Interestingly, the onset age of the ATTR Val30Met amyloidosis is highly varied among countries and regions. Read More

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September 2018
1 Read

Quantitation of Tc-DPD uptake in patients with transthyretin-related cardiac amyloidosis.

Amyloid 2018 Sep;25(3):203-210

a National Amyloidosis Centre , UCL Medical School (Royal Free Campus) , London , UK.

Purpose: Transthyretin (ATTR) amyloidosis is a rare but serious infiltrative disease associated with a wide spectrum of morphologic and functional cardiac involvement. Tc-labelled 3,3-diphosphono-1,2-propanodicarboxylic acid (DPD), initially developed as a bone-seeking radiotracer, is remarkably sensitive for imaging cardiac ATTR amyloid deposits. Our aim was to investigate the feasibility and utility of estimating Tc-DPD uptake in myocardial tissue; this has the potential to yield reliable quantitative information on cardiac amyloid burden, which is urgently required to monitor disease progression and response to novel treatments. Read More

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September 2018
1 Read

Oligonucleotide Drugs for Transthyretin Amyloidosis.

N Engl J Med 2018 11;379(21):2086

Johns Hopkins Medicine, Baltimore, MD

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November 2018
3 Reads

Oligonucleotide Drugs for Transthyretin Amyloidosis.

N Engl J Med 2018 11;379(21):2085-6

Hospital de Santo António, Porto, Portugal

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November 2018
3 Reads

Multiple infarcts and hemorrhages in the central nervous system of a dog with cerebral amyloid angiopathy: a case report.

BMC Vet Res 2018 Nov 27;14(1):370. Epub 2018 Nov 27.

Departament of Pathology, Faculdade de Medicina Veterinária e Zootecnia, Universidade de São Paulo, Av. Prof Dr. Orlando Marques de Paiva, 87, São Paulo, 05508-270, Brazil.

Background: β-amyloid (Aβ) can accumulate in the brain of aged dogs, and within vessels walls, the disease is called cerebral amyloid angiopathy (CAA). In humans, Alzheimer's disease and CAA are strongly correlated with cerebrovascular disease. However, in dogs, this association has not been extensively studied yet. Read More

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November 2018
1 Read

Patisiran, an RNAi therapeutic for the treatment of hereditary transthyretin-mediated amyloidosis.

Neurodegener Dis Manag 2018 Nov 27. Epub 2018 Nov 27.

Amyloidosis Research & Treatment Centre, Fondazione IRCCS Policlinico San Matteo, Pavia, 27100, Italy.

Hereditary transthyretin-mediated amyloidosis is a rapidly progressive, heterogeneous disease caused by the accumulation of misfolded transthyretin protein as amyloid fibrils at multiple sites, and is characterized by peripheral sensorimotor neuropathy, autonomic neuropathy and/or cardiomyopathy. Current treatment options have limited efficacy and often do not prevent disease progression. Patisiran is a novel RNA interference therapeutic that specifically reduces production of both wild-type and mutant transthyretin protein. Read More

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November 2018
1 Read

Should the Treatment of Amyloidosis Be Personified? Molecular Mechanism of Amyloid Formation by Aβ Peptide and Its Fragments.

J Alzheimers Dis Rep 2018 Oct 24;2(1):181-199. Epub 2018 Oct 24.

Institute of Protein Research, Russian Academy of Science, Pushchino, Moscow Region, Russia.

Aβ and Aβ peptides are believed to be associated with Alzheimer's disease. Aggregates (plaques) of Aβ fibrils are found in the brains of humans affected with this disease. The mechanism of formation of Aβ fibrils has not been studied completely, which hinders the development of a correct strategy for therapeutic prevention of this neurodegenerative disorder. Read More

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October 2018
3 Reads

Should we measure clonal circulating plasma cells in light chain amyloidosis?

Oncotarget 2018 Nov 2;9(86):35607-35608. Epub 2018 Nov 2.

Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.

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November 2018
1 Read