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light chain deposition disease

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https://www.readbyqxmd.com/read/28219562/isolated-pericardial-infiltration-without-myocardial-involvement-in%C3%A2-light-chain-related-amyloidosis
#1
Sophie Georgin-Lavialle, Aziz Guellich, Jean-François Deux, David Buob, Thibaud Damy
Light-chain-related amyloidosis is a systemic disease characterized by continuous accumulation of insoluble fibrillar proteins in different organs. Cardiac involvement is frequent in this condition. However, atypical presentations and unusual amyloid deposits localization may be encountered making the diagnosis challenging. We present here a case of a light-chain-related pericardial amyloidosis without evidence of myocardial involvement and emphasize the difficulty and importance of amyloidosis typing before starting treatment...
March 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28176254/-18-fluorine-sodium-fluoride-positron-emission-tomography-a-potential-biomarker-of-transthyretin-cardiac-amyloidosis
#2
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/28159556/activated-microglia-trigger-inflammasome-activation-and-lysosomal-destabilization-in-human-rpe-cells
#3
Christopher Nebel, Alexander Aslanidis, Khalid Rashid, Thomas Langmann
Activation of the innate immune system plays a major role in retinal degenerative diseases including age-related macular degeneration (AMD). In this study, we investigated whether reactive microglia trigger and sustain NLRP3 inflammasome activation in human retinal pigment epithelium (ARPE-19) cells. Specifically, we analyzed the potential of cell culture supernatants from lipopolysaccharide (LPS)-stimulated human microglia in combination with the lysosomal destabilization agent Leu-Leu-O-Me (LLOMe) to activate the inflammasome in ARPE-19 cells...
March 11, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28138322/iron-deposition-leads-to-neuronal-%C3%AE-synuclein-pathology-by-inducing-autophagy-dysfunction
#4
Wenbin Wan, Lirong Jin, Zigao Wang, Lingyan Wang, Guoqiang Fei, Fanlong Ye, Xiaoli Pan, Changpeng Wang, Chunjiu Zhong
Growing evidence has indicated that iron deposition in the substantia nigra plays an important role in Parkinson's disease (PD). However, the underlying mechanism is still elusive. Using primary dopaminergic neurons and SH-SY5Y cells cultured in vitro, we observed that iron loading increased α-synuclein and reactive oxygen species (ROS) levels in these cells but did not affect the intracellular α-synuclein mRNA levels. Furthermore, iron loading significantly downregulated Beclin-1 levels and decreased the ratio of microtubule-associated protein 1 light chain 3 isoforms (LC3 II/LC3 I)...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28106121/endoplasmic-reticulum-oxidative-stress-triggers-tgf-beta-dependent-muscle-dysfunction-by-accelerating-ascorbic-acid-turnover
#5
Diego Pozzer, Mariagrazia Favellato, Marco Bolis, Roberto William Invernizzi, Francesca Solagna, Bert Blaauw, Ester Zito
Endoplasmic reticulum (ER) and oxidative stress are two related phenomena that have important metabolic consequences. As many skeletal muscle diseases are triggered by oxidative stress, we explored the chain of events linking a hyperoxidized ER (which causes ER and oxidative stress) with skeletal muscle dysfunction. An unbiased exon expression array showed that the combined genetic modulation of the two master ER redox proteins, selenoprotein N (SEPN1) and endoplasmic oxidoreductin 1 (ERO1), led to an SEPN1-related myopathic phenotype due to excessive signalling of transforming growth factor (TGF)-beta...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28103898/the-burden-of-amyloid-light-chain-amyloidosis-on-health-related-quality-of-life
#6
Martha Bayliss, Kristen L McCausland, Spencer D Guthrie, Michelle K White
BACKGROUND: Light chain (AL) amyloidosis is a rare disease characterized by misfolded amyloid protein deposits in tissues and vital organs, and little is known about the burden of AL amyloidosis on health-related quality of life. This study aimed to quantify the burden of AL amyloidosis in terms of health-related quality of life in a diverse, community-based sample of AL amyloidosis patients. RESULTS: The SF-36v2® Health Survey (SF-36v2), a widely used generic measure of health-related quality of life (using physical and mental summary scales and subscales assessing eight aspects of functioning and well-being), was administered as an online survey of AL amyloidosis patients with AL amyloidosis (ClinicalTrials...
January 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28087006/new-insights-into-the-pathogenesis-and-treatment-of-heavy-chain-deposition-disease
#7
Jonathan J Hogan, Glen S Markowitz
Heavy chain deposition disease is defined by the presence of tissue deposits of truncated monoclonal Ig heavy chains, usually associated with an underlying plasma cell clone. In this issue of Kidney International, Bridoux et al. described the clinical, histologic, and molecular characterization of 15 patients with heavy chain deposition disease, which is the largest case series to date. Notable findings included the frequent presence of C3 deposits and hypocomplementemia, the uniform finding of truncated heavy chains with the deletion in the heavy chain constant region 1, and the common occurrence of an abnormal serum-free κ:λ ratio, despite the absence of light-chain tissue deposition...
February 2017: Kidney International
https://www.readbyqxmd.com/read/28074646/differences-in-protein-concentration-dependence-for-nucleation-and-elongation-in-light-chain-amyloid-formation
#8
Luis M Blancas-Mejía, Pinaki Misra, Marina Ramirez-Alvarado
Light chain (AL) amyloidosis is a lethal disease characterized by the deposition of the immunoglobulin light chain into amyloid fibrils, resulting in organ dysfunction and failure. Amyloid fibrils have the ability to self-propagate, recruiting soluble protein into the fibril by a nucleation-polymerization mechanism, characteristic of autocatalytic reactions. Experimental data suggest the existence of a critical concentration for initiation of fibril formation. As such, the initial concentration of soluble amyloidogenic protein is expected to have a profound effect on the rate of fibril formation...
February 7, 2017: Biochemistry
https://www.readbyqxmd.com/read/28050001/light-chain-deposition-disease-diagnosed-with-laser-micro-dissection-liquid-chromatography-and-tandem-mass-spectrometry-of-nodular-glomerular-lesions
#9
Tomomichi Kasagi, Hironobu Nobata, Keisuke Suzuki, Naoto Miura, Shogo Banno, Akiyoshi Takami, Taro Yamashita, Yukio Ando, Hirokazu Imai
A 42-year-old man developed nephrotic syndrome and rapidly progressive renal failure. Kidney biopsy demonstrated nodular glomerulosclerosis, negative Congo red staining, and no deposition of light or heavy chains. Laser micro-dissection and liquid chromatography with tandem mass spectrometry of nodular lesions revealed the presence of a kappa chain constant region and kappa III variable region, which signified light chain deposition disease. Dexamethasone and thalidomide were effective in decreasing the serum levels of free kappa light chain from 147...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28001187/treatment-of-idiopathic-light-chain-deposition-disease-complete-remission-with-bortezomib-and-dexamethasone
#10
João Tadeu Damian Souto Filho, Jorge Murilo Grillo Monteiro, Inêz Barcellos de Andrade
Light chain deposition disease (LCDD) is a rare clinical entity characterized by the deposition of light chain immunoglobulins in different tissues and primarily affects the kidneys, followed by the liver and heart. This disease often manifests as nephrotic syndrome with marked proteinuria and rapid deterioration of renal function. More than 50% of cases are secondary to multiple myeloma or other lymphoproliferative diseases, with a well-established treatment aimed at controlling the underlying disease. In rare cases, there is no detection of an associated hematological disease, referred to as idiopathic LCDD...
December 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/27900617/new-and-evolving-concepts-regarding-the-prognosis-and-treatment-of-cardiac-amyloidosis
#11
REVIEW
Stefano Perlini, Roberta Mussinelli, Francesco Salinaro
Systemic amyloidoses are rare and proteiform diseases, caused by extracellular accumulation of insoluble misfolded fibrillar proteins. Prognosis is dictated by cardiac involvement, which is especially frequent in light chain (AL) and in transthyretin variants (ATTR, both mutated, (ATTRm), and wild-type, (ATTRwt)). Recently, ATTRwt has emerged as a potentially relevant cause of a heart failure with preserved ejection fraction (HFpEF). Cardiac amyloidosis is an archetypal example of restrictive cardiomyopathy, with signs and symptoms of global heart failure and diastolic dysfunction...
December 2016: Current Heart Failure Reports
https://www.readbyqxmd.com/read/27884116/kidney-disease-in-the-elderly-biopsy-based-data-from-14-renal-centers-in-poland
#12
Agnieszka Perkowska-Ptasinska, Dominika Deborska-Materkowska, Artur Bartczak, Tomasz Stompor, Tomasz Liberek, Barbara Bullo-Piontecka, Anna Wasinska, Agnieszka Serwacka, Marian Klinger, Jolanta Chyl, Michal Kuriga, Robert Malecki, Krzysztof Marczewski, Bogdan Hryniewicz, Tadeusz Gregorczyk, Monika Wieliczko, Stanislaw Niemczyk, Olga Rostkowska, Leszek Paczek, Magdalena Durlik
BACKGROUND: Longer life expectancy is associated with an increasing prevalence of kidney disease. Aging itself may cause renal damage, but the spectrum of kidney disorders that affect elderly patients is diverse. Few studies, mostly form US, Asia and West Europe found differences in the prevalence of some types of kidney diseases between elderly and younger patients based on renal biopsy findings, with varied proportion between glomerulopathies and arterionephrosclerosis as a dominant injury found...
November 25, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27856462/clarifying-immunoglobulin-gene-usage-in-systemic-and-localized-immunoglobulin-light-chain-amyloidosis-by-mass-spectrometry
#13
Taxiarchis V Kourelis, Surendra Dasari, Jason D Theis, Marina Ramirez-Alvarado, Paul J Kurtin, Morie A Gertz, Steven R Zeldenrust, Roman M Zenka, Ahmet Dogan, Angela Dispenzieri
The goal of this study was to investigate the frequency of use of light chain variable region (IGVL) genes among patients with systemic (ALS) and localized (ALL) amyloidosis and to assess for associations between IGVL gene usage and organ tropism. We evaluated clinic charts from 821 AL patients seen at the Mayo Clinic who had bone marrow, fat pad and solid organ tissue samples typed by liquid chromatography tandem mass spectrometry (LC-MS). We identified 701 patients with ALs and 120 with ALL. Overall, we were able to identify an IGVL gene in 87 (72%) patients with ALL and 573 (82%) patients with ALS...
November 16, 2016: Blood
https://www.readbyqxmd.com/read/27825470/monoclonal-igm-related-al-amyloidosis
#14
REVIEW
Paolo Milani, Giampaolo Merlini
Monoclonal immunoglobulin M (IgM)-related light chain (AL) amyloidosis, which accounts for 5%-7% of all AL amyloidosis cases, is a distinct clinical entity that poses specific challenges to clinicians. Several studies reported that although there is a substantial overlap, the pattern of organ involvement is peculiar, with higher frequencies of lung, lymph nodes, and peripheral nervous system involvement. A recent collaborative study from three European referral centers, defined that cardiac involvement, advanced Mayo disease stage, neuropathic, and liver involvement were independent factors that had impact on survival in IgM-AL amyloidosis patients...
June 2016: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/27806176/abrupt-onset-of-refractory-heart-failure-associated-with-light-chain-amyloidosis-in-hypertrophic-cardiomyopathy
#15
Benedetta Tomberli, Francesco Cappelli, Federico Perfetto, Iacopo Olivotto
Importance: The natural history of hypertrophic cardiomyopathy (HCM) is complex and may include progressive heart failure and severe left ventricular dysfunction. When disease progression is abrupt, however, other coexisting diseases should be ruled out. This may be difficult in the case of amyloidosis, which classically mimics HCM. Results: We present an example of severe clinical deterioration in a patient with HCM due to superimposed amyloid light-chain amyloidosis...
January 1, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/27773425/unravelling-the-immunopathological-mechanisms-of-heavy-chain-deposition-disease-with-implications-for-clinical-management
#16
Frank Bridoux, Vincent Javaugue, Sébastien Bender, Fannie Leroy, Pierre Aucouturier, Céline Debiais-Delpech, Jean-Michel Goujon, Nathalie Quellard, Amélie Bonaud, Marie Clavel, Patrick Trouillas, Florent Di Meo, Jean-Marc Gombert, Jean-Paul Fermand, Arnaud Jaccard, Michel Cogné, Guy Touchard, Christophe Sirac
Randall-type heavy chain deposition disease (HCDD) is a rare disorder characterized by tissue deposition of a truncated monoclonal immunoglobulin heavy chain lacking the first constant domain. Pathophysiological mechanisms are unclear and management remains to be defined. Here we retrospectively studied 15 patients with biopsy-proven HCDD of whom 14 presented with stage 3 or higher chronic kidney disease, with nephrotic syndrome in 9. Renal lesions were characterized by nodular glomerulosclerosis, with linear peritubular and glomerular deposits of γ-heavy chain in 12 patients or α-heavy chain in 3 patients, without concurrent light chain staining...
October 20, 2016: Kidney International
https://www.readbyqxmd.com/read/27762125/bortezomib-based-chemotherapy-for-light-chain-deposition-disease
#17
Vignesh Kandakumar, Vishnu Nagalapuram, Sujaya Menon
Light chain deposition disease (LCDD) is a rare systemic disorder in which monoclonal light chains are abnormally secreted due to clonal proliferation of plasma cells and get deposited in various organs; the kidneys being the common one to be affected leading to renal failure. Advocated therapeutic options include chemotherapy with alkylating agents and steroids, High-Dose Melphalan (HDM) with Autologous Stem Cell Transplantation. Recently, Bortezomib has proven to be a novel therapeutic option in these patients when combined with dexamethasone...
August 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27756655/intracystic-hemorrhage-in-a-patient-with-pulmonary-cystic-disorder-related-to-light-chain-deposition-disease
#18
Luis Gorospe Sarasúa, Rubén-Eduardo Pacios-Blanco, Paola Arrieta, Anabelle Chinea-Rodríguez
No abstract text is available yet for this article.
October 15, 2016: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/27746438/five-sequential-evaluations-of-renal-histology-in-a-patient-with-light-chain-deposition-disease
#19
Toshiharu Ueno, Koichi Kikuchi, Ryo Hazue, Koki Mise, Keiichi Sumida, Noriko Hayami, Tatsuya Suwabe, Junichi Hoshino, Naoki Sawa, Kenji Arizono, Shigeko Hara, Kenmei Takaichi, Takeshi Fujii, Kenichi Ohashi, Yoshifumi Ubara
A 58-year-old man was referred to our institution for an evaluation of nephrotic range proteinuria. Renal biopsy showed a marked expansion of the mesangial matrix and thickening of glomerular basement membrane (GBM) in periodic acid-silver methenamine (PAM). Immunofluorescence (IF) revealed strong staining for the monoclonal kappa light chain. EM demonstrated massive subendothelial and mesangial dense deposits. As a result, light chain deposition disease (LCDD) was diagnosed. Melphalan and prednisolone (MP) therapy was started, which was continued for 10 years with minimal complications...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27744229/effects-of-oxidative-post-translational-modifications-on-structural-stability-and-self-assembly-of-%C3%AE-6-immunoglobulin-light-chain
#20
Ximena Zottig, Mathieu Laporte Wolwertz, Makan Golizeh, Leanne Ohlund, Lekha Sleno, Steve Bourgault
Light chain amyloidosis (AL) originates from the deposition of immunoglobulin light chains (LCs) as amyloid fibrils in the extracellular space of vital organs. Although non-enzymatic post-translational modifications (PTMs) have been shown to contribute to protein misfolding diseases, little is known about their contributions to LC amyloidogenicity. In this study, we investigated the effects of three oxidative PTMs, carbonylation by hydroxynonenal (HNE), oxidation and nitration, on the structure, thermodynamic stability and self-assembly propensity of a LC variable domain from the λ6 germline, Wil...
October 11, 2016: Biophysical Chemistry
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