28,754 results match your criteria Amyloidosis Familial Renal


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

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

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

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

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

[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

[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

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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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

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
7 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
4 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

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

Nat Rev Nephrol 2018 Dec 3. Epub 2018 Dec 3.

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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December 2018
1 Read

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
4 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

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

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
1 Read

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
2 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

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

Monitoring treatment response to tafamidis by serial native T1 and extracellular volume in transthyretin amyloid cardiomyopathy.

ESC Heart Fail 2018 Nov 27. Epub 2018 Nov 27.

Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan.

Tafamidis meglumine, a transthyretin (TTR) stabilizer, is effective in delaying the progression of neuropathy in TTR amyloidosis with Val30Met mutations. However, its efficacy in TTR amyloid cardiomyopathy is not fully elucidated. Herein, we report a 73-year-old Japanese man with a diagnosis of TTR amyloid cardiomyopathy with Val30Met mutation treated with tafamidis. Read More

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November 2018
4 Reads

Daratumumab, pomalidomide, and dexamethasone as a bridging therapy to autologous stem cell transplantation in a case of systemic light-chain amyloidosis with advanced cardiac involvement.

J Oncol Pharm Pract 2018 Nov 26:1078155218815305. Epub 2018 Nov 26.

2 Department of Hematologic Oncology and Blood Disorders, Levine Cancer Institute, Atrium Health, Charlotte, NC, USA.

Systemic light-chain (AL) amyloidosis is a rare hematologic disorder where proteins infiltrate tissues leading to organ failure and death. Cardiac involvement, present in ∼70% of patients, determines stage and prognosis of the disease, with advanced involvement having a median survival of six months. The treatment of light-chain amyloidosis is directed at recovering organ function with therapeutic strategies following those of multiple myeloma with plasma cell-directed therapies. Read More

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November 2018
2 Reads

Cardiac Amyloidosis.

QJM 2018 Nov 22. Epub 2018 Nov 22.

From the Department of Cardiology, The first people's Hospital of Tongxiang, Zhejiang, People's Republic of China.

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November 2018
1 Read

Familial Mediterranean fever: breaking all the (genetic) rules.

Rheumatology (Oxford) 2018 Nov 23. Epub 2018 Nov 23.

Division of Internal Medicine, Clinica Medica A. Murri, Department of Biomedical Sciences and Human Oncology, University of Bari Medical School, Bari.

Objective: FMF is an inherited autoinflammatory syndrome, characterized by attacks of painful periodic fever caused by diffuse serositis and risk of secondary amyloidosis due to IL-1β-mediated inflammation. The disease appears to be transmitted through autosomal recessive mutations in the MEFV gene encoding the pyrin protein Although more than 300 variants have been reported worldwide so far, their association with symptom severity, the relative frequencies in different populations and the disease penetrance are far from being completely understood. We investigated genotype-phenotype correlations in two large nuclear families and verified whether commonly used web-based tools can usefully predict variant pathogenicity in FMF. Read More

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November 2018
4 Reads

Anti-amyloid Therapy of Alzheimer's Disease: Current State and Prospects.

Biochemistry (Mosc) 2018 Sep;83(9):1057-1067

Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991, Russia.

Drug development for the treatment of Alzheimer's disease (AD) has been for a long time focused on agents that were expected to support endogenous β-amyloid (Aβ) in a monomeric state and destroy soluble Aβ oligomers and insoluble Aβ aggregates. However, this strategy has failed over the last 20 years and was eventually abandoned. In this review, we propose a new approach to the anti-amyloid AD therapy based on the latest achievements in understanding molecular causes of cerebral amyloidosis in AD animal models. Read More

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September 2018
1 Read

Mortality from Heart Failure and Dementia in the United States: CDC WONDER 1999-2016.

J Card Fail 2018 Nov 21. Epub 2018 Nov 21.

Department of Radiology, Division of Nuclear Medicine and Molecular Imaging, Brigham and Women's Hospital, Boston, Massachusetts; Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts; Brigham and Women's Hospital Cardiac Amyloidosis Program. Electronic address:

Background: Heart failure and dementia are diseases of the elderly that result in billions of dollars in annual healthcare expenditure. With the aging of the United States population, and increasing evidence of shared risk factors, there is a need to understand the conditions' shared contributions to nationwide mortality. The objectives of our study are to estimate the burden of mortality from heart failure and dementia and characterize the demographics of affected individuals. Read More

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November 2018
1 Read

The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.

J Neurol 2018 Nov 23. Epub 2018 Nov 23.

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, People's Republic of China.

Familial amyloid polyneuropathies (FAPs) are life-threatening, autosomal dominant diseases resulting, in most instances, from transthyretin gene (TTR) variants. A small number of TTR variants lead to leptomeningeal amyloidosis (LA), which is a rare FAP subtype with late-onset central nervous system (CNS) impairment symptoms. Previous studies suggest that LA's CNS selectivity was due to complete endoplasmic reticulum-associated degradation of highly destabilized mutants in peripheral tissues. Read More

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November 2018
6 Reads

Radiologic Findings in Polyarticular Amyloid Arthropathy and Myopathy in Multiple Myeloma: A Case Report.

Am J Case Rep 2018 Nov 24;19:1398-1404. Epub 2018 Nov 24.

Department of Diagnostic Radiology, Tan Tock Seng Hospital, Singapore, Singapore.

BACKGROUND Amyloid arthropathy and myopathy are complications of amyloidosis that can be associated with non-specific imaging findings, which may be challenging to interpret. The report is of a case of polyarticular amyloid arthropathy and myopathy in a 56-year-old man with multiple myeloma and includes a description of the radiographic, computed tomography (CT), and magnetic resonance imaging (MRI) findings. CASE REPORT A 56-year-old man with multiple myeloma presented with chronic polyarticular pain and swelling. Read More

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November 2018
6 Reads

AL amyloidosis with non-amyloid forming monoclonal immunoglobulin deposition; a case mimicking AHL amyloidosis.

BMC Nephrol 2018 Nov 22;19(1):337. Epub 2018 Nov 22.

Kidney and Vascular Pathology, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan.

Background: Immunoglobulin heavy-and-light-chain amyloidosis (AHL amyloidosis) is a newly established disease entity where both the immunoglobulin heavy-chain and light-chain compose amyloid fibrils. The immunoglobulins responsible for the amyloid fibrils are generally identified by immunostaining and/or laser microdissection-liquid chromatography-tandem mass spectrometry (LMD-LC-MS/MS). However, both techniques do not biochemically differentiate immunoglobulins that formed amyloid fibrils from non-responsible immunoglobulins. Read More

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November 2018
4 Reads

Correction: Integrative approach to sporadic Alzheimer's disease: deficiency of TYROBP in cerebral Aβ amyloidosis mouse normalizes clinical phenotype and complement subnetwork molecular pathology without reducing Aβ burden.

Mol Psychiatry 2018 Nov 21. Epub 2018 Nov 21.

Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.

This article was originally published under standard licence, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the paper have been modified accordingly. Read More

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November 2018
1 Read

Plasma cell proliferative index is an independent predictor of progression in smoldering multiple myeloma.

Blood Adv 2018 Nov;2(22):3149-3154

Division of Hematology and.

The plasma cell proliferative index (PCPI), determined by a slide technique or by flow cytometry, detects cells in the S phase of the cell cycle and is a useful prognostic tool in patients with plasma cell disorders such as multiple myeloma and amyloidosis. We conducted a retrospective review analyzing the prognostic effect of PCPI in 306 patients with smoldering multiple myeloma (SMM). Seventy-nine (26%) patients had an elevated PCPI (>0. Read More

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November 2018
2 Reads

Oligonucleotide Drugs for Transthyretin Amyloidosis.

Authors:
Joel N Buxbaum

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

Scripps Research Institute, La Jolla, CA

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November 2018
3 Reads

Restoration of Myoglobin Native Fold from Its Initial State of Amyloid Formation by Trehalose.

J Phys Chem B 2018 Nov 30. Epub 2018 Nov 30.

Institute of Materials Structure Science , High Energy Accelerator Research Organization , 1-1 Oho , Tsukuba , Ibaraki 305-0801 , Japan.

Organisms having tolerances against extreme environments produce and accumulate stress proteins and/or sugars in cells against the extreme environment such as high or low temperature, drying, and so forth. Sugars and/or polyols are known to prevent protein denaturation and enzyme deactivation. In particular, trehalose has received considerable attention because of its association with cryptobiosis and anhydrobiosis. Read More

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November 2018
8 Reads

The Pentraxins 1975-2018: Serendipity, Diagnostics and Drugs.

Authors:
Mark B Pepys

Front Immunol 2018 16;9:2382. Epub 2018 Oct 16.

Wolfson Drug Discovery Unit, Centre for Amyloidosis and Acute Phase Proteins, University College London, London, United Kingdom.

The phylogenetically ancient, pentraxin family of plasma proteins, comprises C-reactive protein (CRP) and serum amyloid P component (SAP) in humans and the homologous proteins in other species. They are composed of five, identical, non-covalently associated protomers arranged with cyclic pentameric symmetry in a disc-like configuration. Each protomer has a calcium dependent site that mediates the particular specific ligand binding responsible for all the rigorously established functional properties of these proteins. Read More

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October 2018
7 Reads