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Amyloidosis

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https://www.readbyqxmd.com/read/28213611/transthyretin-amyloidosis-an-under-recognized-neuropathy-and-cardiomyopathy
#1
REVIEW
Natalie J Galant, Per Westermark, Jeffrey N Higaki, Avijit Chakrabartty
Transthyretin (TTR) amyloidosis (ATTR amyloidosis) is an underdiagnosed and important type of cardiomyopathy and/or polyneuropathy that requires increased awareness within the medical community. Raising awareness among clinicians about this type of neuropathy and lethal form of heart disease is critical for improving earlier diagnosis and the identification of patients for treatment. The following review summarizes current criteria used to diagnose both hereditary and wild-type ATTR (ATTRwt) amyloidosis, tools available to clinicians to improve diagnostic accuracy, available and newly developing therapeutics, as well as a brief biochemical and biophysical background of TTR amyloidogenesis...
March 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28213380/complex-formation-with-pentraxin-2-regulates-factor-x-plasma-levels-and-macrophage-interactions
#2
Vincent Muczynski, Gabriel Aymé, Véronique Regnault, Marc Vasse, Delphine Borgel, Paulette Legendre, Amine Bazaa, Amélie Harel, Cécile Loubière, Peter J Lenting, Cécile V Denis, Olivier D Christophe
Recently, we have identified scavenger receptor-AI (SR-AI) as a receptor for coagulation factor X (FX), mediating the formation of a FX-reservoir at the macrophage-surface (Muczynski, Blood 2016 127:778). Here, we demonstrate that the FX/SR-AI-complex comprises a third protein, pentraxin-2. The presence of pentraxin-2 is essential to prevent internalization of FX by SR-AI, while the presence of FX is needed to interfere with internalization of pentraxin-2. Binding studies showed that FX, SR-AI and pentraxin-2 independently bind to each other (Kd,app: 0...
February 17, 2017: Blood
https://www.readbyqxmd.com/read/28210184/surgical-treatment-of-a-rare-case-of-bilateral-ptosis-due-to-localized-ocular-amyloidosis
#3
Gianluca Scuderi, Solmaz Abdolrahimzadeh, Antonietta Troccola, Marco Mazzocchi, Santi Maria Recupero
We describe a rare case of a 31-year old woman with bilateral ptosis due to localized amyloidosis. She referred a nine-year history of ptosis and surgical treatment with frontalis suspension three years previously. Following complete ophthalmological examination and evaluation of the ptosis we carried out tarsal and fornix biopsy, which revealed accumulation of a weakly eosinophilic amyloid positive substance. We performed surgical correction using the levator aponeurosis-Müller's muscle complex re-adaptation technique and amyloid substance debulking in all the palpebral layers in the left eye...
July 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28205010/prion-specific-and-surrogate-csf-biomarkers-in-creutzfeldt-jakob-disease-diagnostic-accuracy-in-relation-to-molecular-subtypes-and-analysis-of-neuropathological-correlates-of-p-tau-and-a%C3%AE-42-levels
#4
Francesca Lattanzio, Samir Abu-Rumeileh, Alessia Franceschini, Hideaki Kai, Giulia Amore, Ilaria Poggiolini, Marcello Rossi, Simone Baiardi, Lynne McGuire, Anna Ladogana, Maurizio Pocchiari, Alison Green, Sabina Capellari, Piero Parchi
The differential diagnosis of Creutzfeldt-Jakob disease (CJD) from other, sometimes treatable, neurological disorders is challenging, owing to the wide phenotypic heterogeneity of the disease. Real-time quaking-induced prion conversion (RT-QuIC) is a novel ultrasensitive in vitro assay, which, at variance with surrogate neurodegenerative biomarker assays, specifically targets the pathological prion protein (PrP(Sc)). In the studies conducted to date in CJD, cerebrospinal fluid (CSF) RT-QuIC showed good diagnostic sensitivity (82-96%) and virtually full specificity...
February 15, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28202864/clinical-presentation-of-tubulointerstitial-nephritis-caused-by-amyloid-light-chain-amyloidosis-in-a-patient-with-sj%C3%A3-gren-s-syndrome
#5
Reiko Inoue, Yoshihide Fujigaki, Kana Kobayashi, Yoshifuru Tamura, Tatsuru Ota, Shigeru Shibata, Tsuyoshi Ishida, Fukuo Kondo, Yutaka Yamaguchi, Shunya Uchida
We report a 70-year-old woman with Sjögren's syndrome who had severe renal dysfunction with mild proteinuria and elevated urinary low-molecular-weight proteins. Based on these clinical presentations, interstitial nephritis due to Sjögren's syndrome was strongly suspected. Unexpectedly, renal pathology revealed amyloid light-chain (AL) lambda-type depositions predominantly in the vasculatures with severe tubulointerstitial damage. Concentrated urine immunofixation was positive for Bence Jones lambda-type monoclonal proteins...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28197412/bronchoscopic-diagnosis-and-treatment-of-primary-tracheobronchial-amyloidosis-a-retrospective-analysis-from-china
#6
Xiaoxiao Lu, Bixiu He, Ge Wang, Baimei He, Lijing Wang, Qiong Chen
Objective. To assess the value of bronchoscopy in the diagnosis and treatment of primary tracheobronchial amyloidosis (TBA), in order to reduce misdiagnosis rates and improve prognosis. Methods. Clinical data of 107 patients with TBA reported from 1981 to 2015 in China were retrospectively analyzed for clinical features, bronchoscopic manifestations, pathologies, treatments, and outcomes. Results. 105 of 107 TBA patients were pathologically confirmed by bronchoscopy. Main bronchoscopic manifestations of TBA were single or multiple nodules and masses within tracheobronchial lumens; local or diffuse luminal stenosis and obstruction; luminal wall thickening and rigidity; rough or uneven inner luminal walls; congestion and edema of mucosa, which was friable and prone to bleeding upon touch; and so forth...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28197289/cardiac-amyloidosis-masked-as-hypertrophic-cardiomyopathy-a-case-report
#7
Jing Wang, Amy Marzolf, Janet C L Zhang, Anjali Owens, Yuchi Han
It is well known that cardiac amyloidosis and hypertrophic cardiomyopathy (HCM) have different physiologies and pathologies. However, it might be difficult to differentiate cardiac amyloidosis from HCM in certain clinical situations.
October 2016: Cardiology Research
https://www.readbyqxmd.com/read/28197095/increase-of-trem2-during-aging-of-an-alzheimer-s-disease-mouse-model-is-paralleled-by-microglial-activation-and-amyloidosis
#8
Matthias Brendel, Gernot Kleinberger, Federico Probst, Anna Jaworska, Felix Overhoff, Tanja Blume, Nathalie L Albert, Janette Carlsen, Simon Lindner, Franz Josef Gildehaus, Laurence Ozmen, Marc Suárez-Calvet, Peter Bartenstein, Karlheinz Baumann, Michael Ewers, Jochen Herms, Christian Haass, Axel Rominger
Heterozygous missense mutations in the triggering receptor expressed on myeloid cells 2 (TREM2) have been reported to significantly increase the risk of developing Alzheimer's disease (AD). Since TREM2 is specifically expressed by microglia in the brain, we hypothesized that soluble TREM2 (sTREM2) levels may increase together with in vivo biomarkers of microglial activity and amyloidosis in an AD mouse model as assessed by small animal positron-emission-tomography (μPET). In this cross-sectional study, we examined a strong amyloid mouse model (PS2APP) of four age groups by μPET with [(18)F]-GE180 (glial activation) and [(18)F]-florbetaben (amyloidosis), followed by measurement of sTREM2 levels and amyloid levels in the brain...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28196416/blood-proteomic-profiling-in-inherited-attrm-and-acquired-attrwt-forms-of-transthyretin-associated-cardiac-amyloidosis
#9
Gloria G Chan, Clarissa M Koch, Lawreen H Connors
Transthyretin-associated forms of cardiac amyloidosis are fatal protein misfolding diseases that can be inherited (ATTRm) or acquired (ATTRwt). Precise biomarkers for ATTR disease identification and monitoring are undiscovered, disease-specific therapeutic options are needed, and the current understanding of ATTR molecular pathogenesis is limited. The aim of this study was to investigate and compare the serum proteomes in ATTRm and ATTRwt cardiac amyloidosis to identify differentially expressed blood proteins that were disease-specific...
February 14, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28196196/identification-of-transthyretin-cardiac-amyloidosis-using-serum-retinol-binding-protein-4-and-a-clinical-prediction-model
#10
Marios Arvanitis, Clarissa M Koch, Gloria G Chan, Celia Torres-Arancivia, Michael P LaValley, Daniel R Jacobson, John L Berk, Lawreen H Connors, Frederick L Ruberg
Importance: Transthyretin cardiac amyloidosis (ATTR) is an underrecognized cause of heart failure (HF) in older individuals, owing in part to difficulty in diagnosis. ATTR can result from substitution of valine for isoleucine at codon 122 of the transthyretin (TTR) gene (V122I), present in 3.43% of African American individuals. Objective: To examine whether serum retinol-binding protein 4 (RBP4), an endogenous TTR ligand, could be used as a diagnostic test for ATTR V122I amyloidosis...
February 8, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28192686/the-down-syndrome-brain-in-the-presence-and-absence-of-fibrillar-%C3%AE-amyloidosis
#11
Tiina Annus, Liam R Wilson, Julio Acosta-Cabronero, Arturo Cardenas-Blanco, Young T Hong, Tim D Fryer, Jonathan P Coles, David K Menon, Shahid H Zaman, Anthony J Holland, Peter J Nestor
People with Down syndrome (DS) have a neurodevelopmentally distinct brain and invariably developed amyloid neuropathology by age 50. This cross-sectional study aimed to provide a detailed account of DS brain morphology and the changes occuring with amyloid neuropathology. Forty-six adults with DS underwent structural and amyloid imaging-the latter using Pittsburgh compound B (PIB) to stratify the cohort into PIB-positive (n = 19) and PIB-negative (n = 27). Age-matched controls (n = 30) underwent structural imaging...
January 17, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28192171/a-new-light-on-alkaptonuria-a-fourier-transform-infrared-microscopy-ftirm-and-low-energy-x-ray-fluorescence-lexrf-microscopy-correlative-study-on-a-rare-disease
#12
Elisa Mitri, Lia Millucci, Lucia Merolle, Giulia Bernardini, Lisa Vaccari, Alessandra Gianoncelli, Annalisa Santucci
BACKGROUND: Alkaptonuria (AKU) is an ultra-rare disease associated to the lack of an enzyme involved in tyrosine catabolism. This deficiency results in the accumulation of homogentisic acid (HGA) in the form of ochronotic pigment in joint cartilage, leading to a severe arthropathy. Secondary amyloidosis has been also unequivocally assessed as a comorbidity of AKU arthropathy. Composition of ochronotic pigment and how it is structurally related to amyloid is still unknown. METHODS: We exploited Synchrotron Radiation Infrared and X-Ray Fluorescence microscopies in combination with conventional bio-assays and analytical tools to characterize chemical composition and morphology of AKU cartilage...
February 9, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28188192/multiple-myeloma-version-3-2017-nccn-clinical-practice-guidelines-in-oncology
#13
Shaji K Kumar, Natalie S Callander, Melissa Alsina, Djordje Atanackovic, J Sybil Biermann, Jason C Chandler, Caitlin Costello, Matthew Faiman, Henry C Fung, Cristina Gasparetto, Kelly Godby, Craig Hofmeister, Leona Holmberg, Sarah Holstein, Carol Ann Huff, Adetola Kassim, Michaela Liedtke, Thomas Martin, James Omel, Noopur Raje, Frederic J Reu, Seema Singhal, George Somlo, Keith Stockerl-Goldstein, Steven P Treon, Donna Weber, Joachim Yahalom, Dorothy A Shead, Rashmi Kumar
Multiple myeloma (MM) is caused by the neoplastic proliferation of plasma cells. These neoplastic plasma cells proliferate and produce monoclonal immunoglobulin in the bone marrow causing skeletal damage, a hallmark of multiple myeloma. Other MM-related complications include hypercalcemia, renal insufficiency, anemia, and infections. The NCCN Multiple Myeloma Panel members have developed guidelines for the management of patients with various plasma cell dyscrasias, including solitary plasmacytoma, smoldering myeloma, multiple myeloma, systemic light chain amyloidosis, and Waldenström's macroglobulinemia...
February 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28188164/peritoneal-amyloidosis-with-myopathy-in-primary-systemic-al-amyloidosis
#14
Ali Al-Adhami, Kate Steiner, Spencer Ellis
No abstract text is available yet for this article.
February 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28188032/preclinical-alzheimer-s-disease-a-systematic-review-of-the-cohorts-underlying-the-concept
#15
REVIEW
Stéphane Epelbaum, Rémy Genthon, Enrica Cavedo, Marie Odile Habert, Foudil Lamari, Geoffroy Gagliardi, Simone Lista, Marc Teichmann, Hovagim Bakardjian, Harald Hampel, Bruno Dubois
Preclinical Alzheimer's disease (AD) is a relatively recent concept describing an entity characterized by the presence of a pathophysiological biomarker signature characteristic for AD in the absence of specific clinical symptoms. There is rising interest in the scientific community to define such an early target population mainly because of failures of all recent clinical trials despite evidence of biological effects on brain amyloidosis for some compounds. A conceptual framework has recently been proposed for this preclinical phase of AD...
February 7, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28181278/hematology-patient-reported-symptom-screen-to-assess-quality-of-life-for-al-amyloidosis
#16
Rahma Warsame, Shaji K Kumar, Morie A Gertz, Martha Q Lacy, Francis K Buadi, Suzanne R Hayman, Nelson Leung, David Dingli, John A Lust, Yi Lin, Stephen Russell, Prashant Kapoor, Ronald S Go, Taxiarchis Kourelis, Wilson Gonsalves, Steven R Zeldenrust, Robert A Kyle, S Vincent Rajkumar, Tyler Zemla, Jeffrey Sloan, Angela Dispenzieri
Patients with light chain amyloidosis (AL) often have delayed diagnosis and present with significant symptomatology; this may result in decreased quality of life (QOL). We prospectively employ a "Hematology Patient Reported Symptom Screen" (HPRSS) which is three questions about fatigue, pain and QOL, scored 0-10. The aim of this study is to better understand QOL and determine if HPRSS parameters predict for clinical outcomes. From 2009-2014, 302 newly diagnosed AL patients were included. Baseline median scores [interquartile range] for fatigue, pain, and QOL were 6 [3,7], 2 [0,5], 5 [3,8], respectively...
February 9, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28178435/an-up-to-date-approach-to-a-patient-with-a-suspected-autoinflammatory-disease
#17
REVIEW
Merav Lidar, Eitan Giat
Autoinflammatory diseases (AID) are characterized by seemingly unprovoked self-limited attacks of fever and systemic inflammation potentially leading to amyloidosis. Familial Mediterranean fever (FMF) is the most common AID and therefore the most studied. Besides FMF, the other main hereditary AID are tumor necrosis factor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD), and cryopyrin-associated periodic fever syndrome (CAPS). These hereditary diseases result from a mutant gene that is involved in the regulation of inflammation, resulting in a characteristic clinical phenotype...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28176254/-18-fluorine-sodium-fluoride-positron-emission-tomography-a-potential-biomarker-of-transthyretin-cardiac-amyloidosis
#18
Rachelle Morgenstern, Randy Yeh, Adam Castano, Mathew S Maurer, Sabahat Bokhari
BACKGROUND: Non-invasive imaging to diagnose and quantify amyloid load, progression, and response to treatment are central for the care of patients with cardiac amyloidosis. (18)Fluorine-labeled sodium fluoride ((18)F-NaF) is a widely available radioisotope and PET imaging allows for absolute quantification of tracer uptake. METHODS: Patients with biopsy-proven transthyretin (ATTR-CA) and light-chain cardiac amyloidosis (AL) (3 ATTRwt, 2 ATTRV122I, 2 AL) and controls (n = 5), underwent (18)F-NaF PET imaging...
February 7, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28172677/p378-renal-aa-amyloidosis-associated-with-crohn-s-disease
#19
N Bibani, O Gharbi, D Trad, M Sabbah, A Ouakaa, D Gargouri, H Elloumi, J Kharrat
No abstract text is available yet for this article.
February 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28168952/primary-amyloidosis
#20
A M Arnáiz-García, M E Arnáiz-García, J Arnáiz
No abstract text is available yet for this article.
February 3, 2017: Revista Clínica Española
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