173 results match your criteria Amyloidosis Overview


Overview of treatments used in transthyretin-related hereditary amyloidosis: a systematic review.

Eur J Hosp Pharm 2020 Jul 19;27(4):194-201. Epub 2019 Mar 19.

Pharmacy Department, Hospital Universitario Marques de Valdecilla, Santander, Spain.

Objective: To carry out a systematic review of the literature to analyse the efficacy and safety of treatments available or under investigation for amyloidosis due to mutations in the transthyretin gene (ATTR).

Methods: A bibliographic search was carried out in the following electronic databases up to September 2017: PubMed, Cochrane Library and EMBASE. The inclusion criteria were: efficacy and/or safety studies conducted in humans, studies that included treatments, including treatments in the research phase, and studies that included 10 or more patients. Read More

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http://dx.doi.org/10.1136/ejhpharm-2018-001823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335620PMC

Prognosis and Staging of AL Amyloidosis.

Acta Haematol 2020 22;143(4):388-400. Epub 2020 Jun 22.

Department of Internal Medicine V, Division of Hematology/Oncology, Heidelberg University Hospital, Heidelberg, Germany,

The treatment options for systemic light chain amyloidosis (AL) are currently widening in an unprecedented way, brought about by an expanding arsenal of anti-myeloma therapy as well as by novel approaches to target toxic light chains and, most recently, deposited amyloid directly. In this context, accurate estimates of prognosis in AL, which allow for reliable patient advice and for example comparison of different therapies, are particularly important to clinicians. Some biomarkers and especially the genetic background of the underlying clonal disease as evaluated by interphase fluorescence in situ hybridization even have predictive value, enabling an appropriate treatment selection. Read More

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http://dx.doi.org/10.1159/000508287DOI Listing

Multimodality Imaging in the Evaluation and Management of Cardiac Amyloidosis.

Semin Nucl Med 2020 Jul 9;50(4):295-310. Epub 2020 Feb 9.

Cardiac Amyloidosis Program, Division of Cardiology, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Cardiac Amyloidosis Program, Division of Cardiology, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Division of Nuclear Medicine, Department of Radiology, Brigham and Women's Hospital, Boston, MA. Electronic address:

Systemic amyloidosis is a heterogeneous group of disorders where misfolded proteins deposit in the various organs as nonbranching fibrils with a β-pleated-sheet structure called amyloid. Extensive extracellular deposition of these amyloid fibrils eventually leads to organ dysfunction. Involvement of the heart, termed as cardiac amyloidosis, leads to heart failure if left untreated and carries high morbidity and mortality. Read More

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http://dx.doi.org/10.1053/j.semnuclmed.2020.01.001DOI Listing

Nuclear cardiology: an overview of radioisotope techniques used in the diagnostic workup of cardiovascular disorders.

Kardiol Pol 2020 Jun 28;78(6):520-528. Epub 2020 May 28.

Cardiovascular diseases are the most common cause of death in patients over 60 years old. Pivotal imaging modalities in cardiac diagnostic workup are echocardiography, magnetic resonance, multi‑row detector computed tomography, coronary angiography, and radioisotope tests. In this study, we summarize the techniques of nuclear medicine (positron emission tomography, single‑photon emission computed tomography, radionuclide ventriculography) that could be implemented in the cardiovascular diagnostic algorithms. Read More

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http://dx.doi.org/10.33963/KP.15396DOI Listing

The Pathology of Amyloidosis in Classification: A Review.

Authors:
Maria M Picken

Acta Haematol 2020 11;143(4):322-334. Epub 2020 May 11.

Department of Pathology, Loyola University Medical Center, Maywood, Illinois, USA,

Background: The amyloidoses are a rare and heterogeneous group of disorders that are characterized by the deposition of abnormally folded proteins in tissues ultimately leading to organ damage. The deposits are mainly extracellular and are recognizable by their affinity for Congo red and their yellow-green birefringence under polarized light. Current classification of amyloid in medical practice is based on the amyloid protein type. Read More

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http://dx.doi.org/10.1159/000506696DOI Listing

Diagnosing cardiac amyloidosis in every-day practice: A practical guide for the cardiologist.

Int J Cardiol Heart Vasc 2020 Jun 27;28:100519. Epub 2020 Apr 27.

Department of Cardiology and Vascular Medicine, West German Heart and Vascular Center, University Hospital Essen, Hufelandstrasse 55, 45147 Essen, Germany.

Cardiac amyloidosis (CA) has emerged as a previously underestimated cause of heart failure and mortality. Underdiagnosis resulted mainly from unawareness of the true disease prevalence and the non-specific symptoms of the disease. CA results from extracellular deposition of misfolded protein fibrils, commonly derived from transthyretin (ATTR) or immunoglobulin light chains (AL). Read More

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http://dx.doi.org/10.1016/j.ijcha.2020.100519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7191222PMC

Usefulness of Cardiac Magnetic Resonance Imaging in Aortic Stenosis.

Circ Cardiovasc Imaging 2020 May 6;13(5):e010356. Epub 2020 May 6.

Department of Cardiology (Y.B., C.T.), Amiens University Hospital, France.

The objective of this review is to provide an overview of the role of cardiac magnetic resonance (CMR) in aortic stenosis (AS). Although CMR is undeniably the gold standard for assessing left ventricular volume, mass, and function, the assessment of the left ventricular repercussions of AS by CMR is not routinely performed in clinical practice, and its role in evaluating and quantifying AS is not yet well established. CMR is an imaging modality integrating myocardial function and disease, which could be particularly useful in a pathology like AS that should be considered as a global myocardial disease rather than an isolated valve disease. Read More

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http://dx.doi.org/10.1161/CIRCIMAGING.119.010356DOI Listing

Postmortem examination of COVID-19 patients reveals diffuse alveolar damage with severe capillary congestion and variegated findings in lungs and other organs suggesting vascular dysfunction.

Histopathology 2020 May 4. Epub 2020 May 4.

Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.

Aims: Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has rapidly evolved into a sweeping pandemic. Its major manifestation is in the respiratory tract, and the general extent of organ involvement and the microscopic changes in the lungs remain insufficiently characterised. Autopsies are essential to elucidate COVID-19-associated organ alterations. Read More

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http://dx.doi.org/10.1111/his.14134DOI Listing

Immunoglobulin light chain amyloidosis: 2020 update on diagnosis, prognosis, and treatment.

Authors:
Morie A Gertz

Am J Hematol 2020 Jul 28;95(7):848-860. Epub 2020 Apr 28.

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

Disease Overview: Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light or heavy chain are deposited in tissues. Clinical features depend on organs involved but can include heart failure with preserved ejection fraction, nephrotic syndrome, hepatic dysfunction, peripheral/autonomic neuropathy, and "atypical smoldering multiple myeloma or monoclonal gammopathy undetermined significance (MGUS)."

Diagnosis: Tissue biopsy stained with Congo red demonstrating amyloid deposits with apple-green birefringence is required for diagnosis. Read More

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http://dx.doi.org/10.1002/ajh.25819DOI Listing

Latest treatment strategies aiming for a cure in transplant-eligible multiple myeloma patients: how I cure younger MM patients with lower cost.

Authors:
Kenshi Suzuki

Int J Hematol 2020 Apr 3;111(4):512-518. Epub 2020 Mar 3.

Director of Myeloma and Amyloidosis Center, Japanese Red Cross Medical Center, Shibuya-ku, Hiroo 4-1-22, Tokyo, Japan.

This article presents a practical overview of the treatment of younger, newly diagnosed multiple myeloma patients, focusing on novel treatment strategies. With the introduction of effective new agents, multiple myeloma is one of the most active and changing fields in clinical oncology. In addition, monitoring technology has become reliable and practical. Read More

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http://dx.doi.org/10.1007/s12185-020-02841-wDOI Listing

Use of Implantable Electronic Devices in Patients With Cardiac Amyloidosis.

Can J Cardiol 2020 Mar 9;36(3):408-415. Epub 2019 Dec 9.

Zucker School of Medicine at Hofstra/Northwell, Hempstead, New York, USA; Department of Cardiology, North Shore University Hospital, Manhasset, New York, USA.

Arrhythmias are a major cause of morbidity and mortality in the course of cardiac amyloidosis (CA). Less commonly, they may be the initial manifestation that lead to the diagnosis. With improved therapeutic interventions for amyloidosis, it is no longer considered to be a terminal untreatable condition, and there is increasing recognition of the role of implantable electronic devices in CA. Read More

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http://dx.doi.org/10.1016/j.cjca.2019.12.002DOI Listing

Imaging cardiac sarcoidosis and infiltrative diseases: diagnosis and therapeutic response.

Q J Nucl Med Mol Imaging 2020 Mar 24;64(1):51-73. Epub 2020 Jan 24.

Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA -

Infiltrative heart disease is an encompassing term referring to different pathological entities that involve infiltration of the myocardium by either abnormal substances or inflammatory cells. These infiltrates can impair cellular function, induce necrosis and fibrosis, or otherwise disrupt myocardial architecture resulting in a wide spectrum of structural and functional impairment. Depending on the specific disorder and stage of disease, patients may present with minimal cardiac abnormalities, or may have findings of advanced restrictive and/or dilated cardiomyopathy. Read More

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http://dx.doi.org/10.23736/S1824-4785.20.03235-5DOI Listing

Diagnosis and treatment of autoimmune hemolytic anemia in adults: Recommendations from the First International Consensus Meeting.

Blood Rev 2020 May 5;41:100648. Epub 2019 Dec 5.

Department of Research and Innovation, Haugesund Hospital, Haugesund, Norway; Clinical Institute 2, Faculty of Medicine, University of Bergen, Bergen, Norway. Electronic address:

Autoimmune hemolytic anemias (AIHAs) are rare and heterogeneous disorders characterized by the destruction of red blood cells through warm or cold antibodies. There is currently no licensed treatment for AIHA. Due to the paucity of clinical trials, recommendations on diagnosis and therapy have often been based on expert opinions and some national guidelines. Read More

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http://dx.doi.org/10.1016/j.blre.2019.100648DOI Listing

Amyloidosis and Ocular Involvement: an Overview.

Semin Ophthalmol 2020 Jan 12;35(1):7-26. Epub 2019 Dec 12.

Department of Biomedical Sciences and Human Oncology, University of Bari "Aldo Moro", Medical School, Bari, Italy.

: To describe the ophthalmic manifestations of amyloidosis and the corresponding therapeutic measures.: The 178 patients included in the study had different types of amyloidosis, diagnosed at a single internal medicine institution (Bari, Italy). To provide a comprehensive review of the types of amyloidosis that can be associated with ocular involvement, the images and clinical descriptions of patients with amyloidosis structurally related to gelsolin, keratoepithelin and lactoferrin were obtained in collaborations with the ophthalmology departments of hospitals in Mainz (Germany) and Helsinki (Finland). Read More

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http://dx.doi.org/10.1080/08820538.2019.1687738DOI Listing
January 2020

Transthyretin cardiac amyloidosis in aortic stenosis: Prevalence, diagnostic challenges, and clinical implications.

Hellenic J Cardiol 2019 Nov 15. Epub 2019 Nov 15.

Clinic of Cardiovascular Diseases, Institute of Clinical Medicine, Vilnius University Faculty of Medicine, Santariskiu st. 2, 08661, Vilnius, Lithuania.

Transthyretin cardiac amyloidosis (ATTR-CA) is a challenging and underdiagnosed cause of heart failure. Advances in cardiac imaging have enabled noninvasive diagnosis of ATTR-CA, causing the recent upsurge in disease awareness and detection. ATTR-CA has been increasingly recognized in patients with degenerative aortic stenosis (AS). Read More

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http://dx.doi.org/10.1016/j.hjc.2019.10.004DOI Listing
November 2019

Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis.

Circ Heart Fail 2019 09 4;12(9):e006075. Epub 2019 Sep 4.

Amyloidosis Center Foundation IRCCS Policlinico San Matteo, Italy (G.M.).

Cardiomyopathy is a manifestation of transthyretin amyloidosis (ATTR), which is an underrecognized systemic disease whereby the transthyretin protein misfolds to form fibrils that deposit in various tissues and organs. ATTR amyloidosis is debilitating and associated with poor life expectancy, especially in those with cardiac dysfunction, but a variety of treatment options have recently become available. Considered a rare disease, ATTR amyloidosis may be more prevalent than thought, particularly in older persons. Read More

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http://dx.doi.org/10.1161/CIRCHEARTFAILURE.119.006075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736650PMC
September 2019
2 Reads

Reactive Vasodilation Predicts Mortality in Primary Systemic Light-Chain Amyloidosis.

Circ Res 2019 09 12;125(8):744-758. Epub 2019 Aug 12.

From the Department of Clinical Therapeutics, National and Kapodistrian University of Athens School of Medicine, Greece (K. Stamatelopoulos, G.G., F.A., M.L., M.R., M.G., A.L., G.T., D.D., I.P., C. Pamboukas, E.M., M.K., C. Papamichael, E.T., M.A.D., E.K.).

Cardiac involvement and hypotension dominate the prognosis of light-chain amyloidosis (AL). Evidence suggests that there is also peripheral vascular involvement in AL but its prognostic significance is unknown. To evaluate vascular dysfunction in patients with AL as a potential future area of intervention, we assessed the prognostic utility of flow-mediated dilatation (FMD), a marker of vascular reactivity, which is augmented under conditions of hypotension and autonomic dysfunction. Read More

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http://dx.doi.org/10.1161/CIRCRESAHA.119.314862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6784773PMC
September 2019
5 Reads

Lipid Nanoparticle Technology for Clinical Translation of siRNA Therapeutics.

Acc Chem Res 2019 09 9;52(9):2435-2444. Epub 2019 Aug 9.

Department of Biochemistry and Molecular Biology , University of British Columbia , Vancouver , BC V6T 1Z3 , Canada.

Delivering nucleic acid-based therapeutics to cells is an attractive approach to target the genetic cause of various diseases. In contrast to conventional small molecule drugs that target gene products (i.e. Read More

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http://dx.doi.org/10.1021/acs.accounts.9b00368DOI Listing
September 2019
4 Reads

Systemic Amyloidosis: a Contemporary Overview.

Clin Rev Allergy Immunol 2019 Aug 2. Epub 2019 Aug 2.

Department of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, 00186, Rome, Italy.

Amyloidosis constitutes a large spectrum of diseases characterized by an extracellular deposition of a fibrillar aggregate, generating insoluble and toxic amasses that may be deposited in tissues in bundles with an abnormal cross-β-sheet conformation, known as amyloid. Amyloid may lead to a cell damage and an impairment of organ function. Several different proteins are recognized as able to produce amyloid fibrils with a different tissue tropism related to the molecular structure. Read More

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http://dx.doi.org/10.1007/s12016-019-08759-4DOI Listing
August 2019
2 Reads

Bidirectional Relationship Between Cancer and Heart Failure: Old and New Issues in Cardio-oncology.

Card Fail Rev 2019 May 24;5(2):106-111. Epub 2019 May 24.

Comprehensive Heart Failure Center, University Clinic Würzburg Würzburg, Germany.

The main focus of cardio-oncology has been the prevention and treatment of the cardiac toxicity of chemotherapy and radiotherapy. Furthermore, several targeted therapies have been associated with unexpected cardiotoxic side-effects. Recently, epidemiological studies reported a higher incidence of cancer in patients with heart failure (HF) compared with individuals without HF. Read More

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http://dx.doi.org/10.15420/cfr.2019.1.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6546001PMC
May 2019
12 Reads

Use of novel therapies in the treatment of light chain amyloidosis.

Blood Rev 2019 09 22;37:100581. Epub 2019 May 22.

The John Conant Davis Myeloma and Amyloid Program, Division of Hematology-Oncology, Tufts Medical Center, 800 Washington St., Boston, MA 02111, USA; Department of Medicine, Tufts Medical Center, 800 Washington St, Boston, MA 02111, USA. Electronic address:

Immunoglobulin light-chain (AL) amyloidosis is a rare life-threatening disease caused by light chains that are toxic to vital organs such as the heart, kidneys, liver and peripheral nervous system, and that misfold and assemble as amyloid fibrils and deposit both in affected organs and systemically in the vasculature and other tissues. Patients afflicted by this disease have B-cell disorders, almost always related to clonal plasma cells in the bone marrow, the burden of which can range from small clones involving 5% or less of marrow cells to frank multiple myeloma. The goal of therapy is to eliminate the clonal plasma cells producing these toxic light chains to halt and possibly reverse symptomatic organ damage. Read More

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http://dx.doi.org/10.1016/j.blre.2019.05.005DOI Listing
September 2019
16 Reads

Protein misfolding, aggregation and mechanism of amyloid cytotoxicity: An overview and therapeutic strategies to inhibit aggregation.

Int J Biol Macromol 2019 Aug 22;134:1022-1037. Epub 2019 May 22.

Molecular Biophysics and Biophysical Chemistry Group, Interdisciplinary Biotechnology Unit, Aligarh Muslim University, Aligarh, 202002, India. Electronic address:

Protein and peptides are converted from their soluble forms into highly ordered fibrillar aggregates under various conditions inside the cell. Such transitions confer diverse neurodegenerative diseases including Alzheimer's disease, Huntington's disease Prion's disease, Parkinson's disease, polyQ and share abnormal folding of potentially cytotoxic protein species linked with degeneration and death of precise neuronal populations. Presently, major advances are made to understand and get detailed insight into the structural basis and mechanism of amyloid formation, cytotoxicity and therapeutic approaches to combat them. Read More

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http://dx.doi.org/10.1016/j.ijbiomac.2019.05.109DOI Listing
August 2019
6 Reads
2.858 Impact Factor

Neoplasia and intraocular inflammation: From masquerade syndromes to immunotherapy-induced uveitis.

Prog Retin Eye Res 2019 09 12;72:100761. Epub 2019 May 12.

Ophthalmology Department, DHU Sight Restore, Pitié Salpêtrière University Hospital, Paris, France. Electronic address:

Masquerade syndromes represent a large set of ophthalmological entities that mimic inflammatory conditions. Any delay in their diagnosis may be correlated with systemic dissemination or worsening of the causal disease and, therefore, with poor prognosis. One of the disadvantages of the new potent treatments of uveitis is the delay that they can induce in the diagnosis of neoplastic intraocular infiltrations. Read More

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http://dx.doi.org/10.1016/j.preteyeres.2019.05.002DOI Listing
September 2019
13 Reads

Familial Mediterranean fever: overview of pathogenesis, clinical features and management.

Immunol Med 2018 Jun 7;41(2):55-61. Epub 2018 Sep 7.

b Department of Immunology and Rheumatology, Unit of Translational Medicine, Graduate School of Biomedical Sciences , Nagasaki University , Nagasaki , Japan.

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, and is characterized by recurrent attacks of fever and polyserositis. It is associated with mutations in the MEFV gene encoding pyrin, which result in inflammasome activation and the uncontrolled production of IL-1β. FMF mainly affects individuals originating from the Mediterranean basin; however, a Japanese nationwide survey demonstrated that FMF is not uncommon in Japan. Read More

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http://dx.doi.org/10.1080/13497413.2018.1481579DOI Listing
June 2018
25 Reads

An Overview of Primary Dementias as Clinicopathological Entities.

Authors:
Arash Salardini

Semin Neurol 2019 Apr 29;39(2):153-166. Epub 2019 Mar 29.

Department of Neurology, Yale School of Medicine, New Haven, Connecticut.

Dementia is a state of cognitive dysfunction which leads to functional decline. It is a syndrome caused by several medical and neurological causes, but most cases of dementia are due to "primary dementias." Primary dementias are neurological diseases whose manifestations are predominantly cognitive. Read More

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http://dx.doi.org/10.1055/s-0039-1683445DOI Listing
April 2019
8 Reads

Inhibition of Amyloid Fibrillation by Small Molecules and Nanomaterials: Strategic Development of Pharmaceuticals Against Amyloidosis.

Protein Pept Lett 2019 ;26(5):315-323

Department of Chemistry, National Institute of Technology, Hamirpur, Himachal Pradesh 177005, India.

Amyloid fibrils are a special class of self-assembled protein molecules, which exhibit various toxic effects in cells. Different physiological disorders such as Alzheimer's, Parkinson's, Huntington's diseases, etc. happen due to amyloid formation and lack of proper cellular mechanism for the removal of fibrils. Read More

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http://dx.doi.org/10.2174/0929866526666190307164944DOI Listing
October 2019
7 Reads

The Case of Amyloidosis in Cardiological Practice.

Kardiologiia 2019 Jan 28;59(1):93-96. Epub 2019 Jan 28.

Kazan State Medical University.

In this article we present brief overview of the subject of amyloidosis and involvement of the cardiovascular system, the criteria for diagnosis, principles of treatment, and the clinical case of cardiac amyloidosis. Read More

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https://lib.ossn.ru/jour/article/view/437
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http://dx.doi.org/10.18087/cardio.2019.1.10221DOI Listing
January 2019
11 Reads

Diabetes and Alzheimer's Disease: A Link not as Simple as it Seems.

Neurochem Res 2019 Jun 6;44(6):1271-1278. Epub 2018 Dec 6.

VIB Center for Brain and Disease Research, Leuven, Belgium.

Type 2 diabetes mellitus is associated with an increased risk to develop Alzheimer disease, however, the underlying mechanisms for this association are still unclear. In this review we will provide a critical overview of the major findings coming from clinical studies and animal models. Read More

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http://dx.doi.org/10.1007/s11064-018-2690-9DOI Listing
June 2019
9 Reads

Imaging cardiac amyloidosis: Patient page.

J Nucl Cardiol 2019 02 4;26(1):217-221. 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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http://link.springer.com/10.1007/s12350-018-01551-5
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http://dx.doi.org/10.1007/s12350-018-01551-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374189PMC
February 2019
39 Reads

Assays for Light Chain Amyloidosis Formation and Cytotoxicity.

Methods Mol Biol 2019 ;1873:123-153

Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.

Common biophysical techniques like absorption and fluorescence spectroscopy, microscopy, and light scattering studies have been in use to investigate fibril assembly for a long time. However, there is sometimes a lack of consensus from the findings of an individual technique when compared in parallel with the other techniques. In this chapter, we aim to provide a concise compilation of techniques that can effectively be used to obtain a comprehensive representation of the structural, aggregation, and toxicity determinants in immunoglobulin light chain amyloidosis. Read More

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http://dx.doi.org/10.1007/978-1-4939-8820-4_8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581042PMC
May 2019
8 Reads

Waldenström macroglobulinemia: 2019 update on diagnosis, risk stratification, and management.

Authors:
Morie A Gertz

Am J Hematol 2019 02 17;94(2):266-276. Epub 2018 Oct 17.

Division of Hematology, Mayo Clinic, Rochester, Minnesota.

Disease Overview: Waldenström macroglobulinemia (WM) is a lymphoplasmacytic lymphoma with immunoglobulin M (IgM) monoclonal protein. Clinical features include anemia, thrombocytopenia, hepatosplenomegaly, lymphadenopathy, and rarely hyperviscosity.

Diagnosis: Presence of IgM monoclonal protein associated with ≥10% clonal lymphoplasmacytic cells in bone marrow confirms the diagnosis. Read More

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http://doi.wiley.com/10.1002/ajh.25292
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http://dx.doi.org/10.1002/ajh.25292DOI Listing
February 2019
23 Reads

Cerebrovascular disorders associated with genetic lesions.

Cell Mol Life Sci 2019 Jan 16;76(2):283-300. Epub 2018 Oct 16.

Departments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, P.O. Box 208082, New Haven, CT, 06520-8082, USA.

Cerebrovascular disorders are underlain by perturbations in cerebral blood flow and abnormalities in blood vessel structure. Here, we provide an overview of the current knowledge of select cerebrovascular disorders that are associated with genetic lesions and connect genomic findings with analyses aiming to elucidate the cellular and molecular mechanisms of disease pathogenesis. We argue that a mechanistic understanding of genetic (familial) forms of cerebrovascular disease is a prerequisite for the development of rational therapeutic approaches, and has wider implications for treatment of sporadic (non-familial) forms, which are usually more common. Read More

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http://dx.doi.org/10.1007/s00018-018-2934-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450555PMC
January 2019
8 Reads

Histopathology of salivary glands.

Reumatismo 2018 Oct 3;70(3):146-154. Epub 2018 Oct 3.

Department of Medicine, ASL1 Avezzano Sulmona L'Aquila; Rheumatology Unit, Department of Biotechnological and Applied Clinical Science, University of L'Aquila.

Salivary gland (SG) biopsy is a technique broadly applied for the diagnosis of primary Sjögren's syndrome (pSS), lymphoma accompanying SS, sarcoidosis, amyloidosis, and IgG4-related disease The most peculiar feature of pSS on biopsy is focal lymphocytic sialadenitis. In the past, several histological scores have been reported in the literature to describe glandular involvement during pSS. However, the variability among centres in reporting glandular scores is one of the rationales behind the development of standardised consensus guidance. Read More

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https://reumatismo.org/index.php/reuma/article/view/1053
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http://dx.doi.org/10.4081/reumatismo.2018.1053DOI Listing
October 2018
30 Reads

Magnetic Nanoparticles Applications for Amyloidosis Study and Detection: A Review.

Nanomaterials (Basel) 2018 Sep 18;8(9). Epub 2018 Sep 18.

Laboratoire de Chimie et Biologie des Métaux, Université Grenoble Alpes, CNRS, CEA, 17 Rue des Martyrs, CEDEX 9, 38041 Grenoble, France.

Magnetic nanoparticles (MNPs) have great potential in biomedical and clinical applications because of their many unique properties. This contribution provides an overview of the MNPs mainly used in the field of amyloid diseases. The first part discusses their use in understanding the amyloid mechanisms of fibrillation, with emphasis on their ability to control aggregation of amyloidogenic proteins. Read More

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http://dx.doi.org/10.3390/nano8090740DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6164038PMC
September 2018
20 Reads

Targeting Amyloid Aggregation: An Overview of Strategies and Mechanisms.

Int J Mol Sci 2018 Sep 9;19(9). Epub 2018 Sep 9.

Centre for Misfolding Diseases, Department of Chemistry, University of Cambridge, Cambridge CB2 1EW, UK.

Amyloids result from the aggregation of a set of diverse proteins, due to either specific mutations or promoting intra- or extra-cellular conditions. Structurally, they are rich in intermolecular β-sheets and are the causative agents of several diseases, both neurodegenerative and systemic. It is believed that the most toxic species are small aggregates, referred to as oligomers, rather than the final fibrillar assemblies. Read More

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http://www.mdpi.com/1422-0067/19/9/2677
Publisher Site
http://dx.doi.org/10.3390/ijms19092677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6164555PMC
September 2018
51 Reads

[Policy paper nuclear cardiology - update 2018 - Current status of clinical practice].

Nuklearmedizin 2018 Aug 24;57(4):146-152. Epub 2018 Jul 24.

The joint position paper of the working community "Cardiovascular Nuclear Medicine" of the German Society of Nuclear Medicine (DGN) and the working group "Nuclear Cardiology Diagnostics" of the German Cardiac Society (DKG) updates the former 2009 paper. It is the purpose of this paper to provide an overview about the application fields, the state-of-the-art and the current value of nuclear cardiology imaging. The topics covered are chronic coronary artery disease, including viability imaging, furthermore cardiomyopathies, infective endocarditis, cardiac sarcoidosis and amyloidosis. Read More

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http://dx.doi.org/10.3413/2018-06-0001DOI Listing
August 2018
32 Reads
1.671 Impact Factor

Immunoglobulin light chain amyloidosis: 2018 Update on diagnosis, prognosis, and treatment.

Authors:
Morie A Gertz

Am J Hematol 2018 09;93(9):1169-1180

Division of Hematology, Mayo Clinic, Rochester, Minnesota.

Disease Overview: Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light or heavy chain are deposited in tissues. Clinical features depend on organs involved but can include restrictive cardiomyopathy, nephrotic syndrome, hepatic dysfunction, peripheral/autonomic neuropathy, and "atypical multiple myeloma."

Diagnosis: Tissue biopsy stained with Congo red demonstrating amyloid deposits with apple-green birefringence is required for diagnosis. Read More

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http://dx.doi.org/10.1002/ajh.25149DOI Listing
September 2018
89 Reads

Clinical application and technical considerations of T & T(*) mapping in cardiac, liver, and renal imaging.

Br J Radiol 2018 Dec 23;91(1092):20170825. Epub 2018 Jul 23.

1 Department of Radiology, Leiden University Medical Center , Leiden , The Netherlands.

Pathological tissue alterations due to disease processes such as fibrosis, edema and infiltrative disease can be non-invasively visualized and quantified by MRI using T and T relaxation properties. Pixel-wise mapping of T and T image sequences enable direct quantification of T, T(*), and extracellular volume values of the target organ of interest. Tissue characterization based on T and T(*) mapping is currently making the transition from a research tool to a clinical modality, as clinical usefulness has been established for several diseases such as myocarditis, amyloidosis, Anderson-Fabry and iron deposition. Read More

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https://www.birpublications.org/doi/10.1259/bjr.20170825
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http://dx.doi.org/10.1259/bjr.20170825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6319842PMC
December 2018
39 Reads

Causes of mortality and morbidity in free-ranging mustelids in Switzerland: necropsy data from over 50 years of general health surveillance.

BMC Vet Res 2018 Jun 19;14(1):195. Epub 2018 Jun 19.

Centre for Fish and Wildlife Health (FIWI), Vetsuisse Faculty, University of Bern, Länggassstrasse 122, Postfach, 3001, Bern, Switzerland.

Background: Although mustelids occur worldwide and include a wide range of species, little is known about the diseases affecting them. Mustelids have regularly been submitted for post mortem investigation in the framework of the program for general wildlife health surveillance in Switzerland, which has been in place for nearly 60 years. We performed a retrospective analysis of the necropsy reports on mustelids submitted to the diagnostic service of the University of Bern. Read More

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http://dx.doi.org/10.1186/s12917-018-1494-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6009050PMC
June 2018
31 Reads

Current Challenges in Delivery and Cytosolic Translocation of Therapeutic RNAs.

Nucleic Acid Ther 2018 06;28(3):178-193

Institut Curie, PSL Research University , Cellular and Chemical Biology, U1143 INSERM, UMR3666 CNRS, Paris, France .

RNA interference (RNAi) is a fundamental cellular process for the posttranscriptional regulation of gene expression. RNAi can exogenously be modulated by small RNA oligonucleotides, such as microRNAs (miRNAs) and small interfering RNAs (siRNAs), or by antisense oligonucleotides. These small oligonucleotides provided the scientific community with powerful and versatile tools to turn off the expression of genes of interest, and hold out the promise of new therapeutic solutions against a wide range of gene-associated pathologies. Read More

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http://dx.doi.org/10.1089/nat.2017.0716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6000866PMC
June 2018
9 Reads

Updated overview of molecular pathways involved in the most common monogenic autoinflammatory diseases.

Clin Exp Rheumatol 2018 Jan-Feb;36 Suppl 110(1):3-9. Epub 2018 May 3.

Research Centre of Systemic Autoinflammatory Diseases, Behçet's Disease Clinic and Rheumatology-Ophthalmology Collaborative Uveitis Centre, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Italy.

An apparently unprovoked recurrent inflammation is the quintessential hallmark of autoinflammatory diseases (AIDs), a large and heterogeneous group of disorders in which there is poor regulation of the innate immune system with no clearly demonstrated autoimmune machinery involvement. Innate immunity pathways are diverse and our understanding of their molecular composition and function is continuously expanding. The impaired immune responses we observe in monogenic AIDs, mostly in the hereditary periodic fever syndromes, is officiated by target molecules of microbial origin (pathogen-associated molecular patterns) and also host molecules (danger-associated molecular patterns). Read More

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July 2018
20 Reads

The prevention of hepatitis C virus transmission to hemodialysis patients and staff members.

Authors:
Michel Jadoul

Hemodial Int 2018 04;22 Suppl 1:S104-S109

Department of Nephrology, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.

In this review article, we cover 4 topics very relevant to those involved in the care of hemodialysis (HD) patients and in the management of a HD unit. We start with an overview of the progress made over the last 25 years to reduce hepatitis C virus (HCV) transmission in HD. Next, we discuss the potential strategies to prevent the residual ongoing transmission of HCV to HD patients. Read More

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http://dx.doi.org/10.1111/hdi.12652DOI Listing
April 2018
10 Reads

Advances in Treatment of Cardiac Amyloid.

Curr Treat Options Cardiovasc Med 2018 Apr 7;20(5):37. Epub 2018 Apr 7.

Cardiovascular Division, Cardio-Oncology Center of Excellence, Washington University in St Louis, 660 South Euclid Avenue, Campus Box 8086, St Louis, MO, 63110, USA.

Systemic amyloidosis represents a complex group of diseases with a common feature characterized by misfolded autologous proteins depositing into tissues or organs throughout the body. Light chain amyloidosis (AL) and transthyretin (TTR) amyloid are the two most prevalent forms of this disease that commonly results in cardiac amyloidosis. In both of these conditions, the myocardium is a frequent site of infiltration and end-organ involvement often with devastating consequences. Read More

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http://dx.doi.org/10.1007/s11936-018-0631-1DOI Listing
April 2018
29 Reads

Genetic Infiltrative Cardiomyopathies.

Heart Fail Clin 2018 Apr;14(2):215-224

Adult Medical Genetics Program, Cardiovascular Institute, University of Colorado Anschutz, 12700 East 19th Avenue, Aurora, CO 80045, USA. Electronic address:

Infiltrative cardiomyopathies are characterized by abnormal accumulation or deposition of substances in cardiac tissue leading to cardiac dysfunction. These can be inherited, resulting from mutations in specific genes, which engender a diverse array of extracardiac features but overlapping cardiac phenotypes. This article provides an overview of each inherited infiltrative cardiomyopathy, describing the causative genes, the pathologic mechanisms involved, the resulting cardiac manifestations, and the therapies currently offered or being developed. Read More

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http://dx.doi.org/10.1016/j.hfc.2017.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5894511PMC
April 2018
49 Reads

New concepts in the treatment and diagnosis of amyloidosis.

Expert Rev Hematol 2018 02 10;11(2):117-127. Epub 2018 Jan 10.

a Amyloidosis Research and Treatment Center, Foundation 'Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo', and Department of Molecular Medicine , University of Pavia , Pavia , Italy.

Introduction: The most common form of systemic amyloidosis in Western countries is light chain amyloidosis. It is characterized by the deposition of a misfolded light chain in target organs. This amyloid precursor is produced by a usually small but dangerous B-cell clone. Read More

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http://dx.doi.org/10.1080/17474086.2018.1424534DOI Listing
February 2018
43 Reads

Unfolding Cardiac Amyloidosis -From Pathophysiology to Cure.

Curr Med Chem 2019 ;26(16):2865-2878

Division of Cardiology, Medical University of Graz, Graz, Austria.

Deposition of amyloidogenic proteins leading to the formation of amyloid fibrils in the myocardium causes cardiac amyloidosis. Although any form of systemic amyloidosis can affect the heart, light-chain (AL) or transthyretin amyloidosis (ATTR) account for the majority of diagnosed cardiac amyloid deposition. The extent of cardiac disease independently predicts mortality. Read More

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http://dx.doi.org/10.2174/0929867325666180104153338DOI Listing
October 2019
18 Reads

[A selection of advances in neuromuscular medicine].

Ther Umsch 2018 ;75(7):458-464

2 Neurologische Klinik, Inselspital Bern.

A selection of advances in neuromuscular medicine Abstract. Significant developments in the realm of neuromuscular medicine have occurred in both non-invasive diagnostics as well as treatments. Whole body muscle MRI can detect disease specific patterns and lead to the implementation of direct molecular genetic diagnostics. Read More

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http://dx.doi.org/10.1024/0040-5930/a001025DOI Listing
June 2019
10 Reads

[Cerebral amyloid angiopathy associated with inflammation].

Nervenarzt 2018 Jun;89(6):682-691

Neurologie, Allgemeines Krankenhaus Celle, Celle, Deutschland.

Cerebral amyloid angiopathy (CAA) associated with inflammation is a rare form of a potentially reversible encephalopathy in a subgroup of patients with CAA. The cerebral amyloid deposition can in isolated cases induce an inflammation predominantly of the cerebral blood vessels and a multifocal edema of the cerebral white matter. The courses can occur as monophasic, relapsing remitting and primarily progressive forms. Read More

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http://link.springer.com/10.1007/s00115-017-0469-x
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http://dx.doi.org/10.1007/s00115-017-0469-xDOI Listing
June 2018
12 Reads

Cardiovascular complications of multiple myeloma in the elderly.

Expert Rev Cardiovasc Ther 2017 Dec 27;15(12):933-943. Epub 2017 Nov 27.

b Department of Cardiovascular Medicine , Department of Medicine University of Arkansas Medical Sciences , Little Rock , AR , USA.

Introduction: Multiple myeloma is a malignant neoplasm characterized by plasma cell proliferation in blood and bone marrow. Approximately two-thirds of the patients with multiple myeloma are >65 years at the time of diagnosis. Patients in this age group often have co-existing cardiovascular diseases. Read More

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http://dx.doi.org/10.1080/14779072.2017.1409114DOI Listing
December 2017
31 Reads