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light chain deposition disease

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https://www.readbyqxmd.com/read/28295502/assessment-of-renal-response-with-urinary-exosomes-in-patients-with-al-amyloidosis-a-proof-of-concept
#1
Marina Ramirez-Alvarado, David R Barnidge, David L Murray, Angela Dispenzieri, Marta Marin-Argany, Christopher J Dick, Shawna A Cooper, Samih H Nasr, Christopher J Ward, Surendra Dasari, Víctor H Jiménez-Zepeda, Nelson Leung
Immunoglobulin light chain (AL) amyloidosis is a fatal complication of B-cell proliferation secondary to deposition of amyloid fibrils in various organs. Urinary exosomes (UEX) are the smallest of the microvesicles excreted in the urine. Previously, we found UEX of patients with AL amyloidosis contained immunoglobulin light chain (LC) oligomers that patients with multiple myeloma did not have. To further explore the role of the LC oligomers, UEX was isolated from an AL amyloidosis patient with progressive renal disease despite achieving a complete response...
March 10, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28293126/the-risk-of-renal-disease-is-increased-in-lambda-myeloma-with-bone-marrow-amyloid-deposits
#2
Piotr Kozlowski, Scott Montgomery, Rahel Befekadu, Victoria Hahn-Strömberg
BACKGROUND: Light chain amyloidosis (AL) is a rare deposition disease and is present in 10-15% of patients with myeloma (MM). In contrast to symptomatic AL in MM, presence of bone marrow (BM) amyloid deposits (AD) in MM is not connected to kidney damage. Renal AD but not BM-AD occur mostly in MM with lambda paraprotein (lambda MM). METHODS: We investigated amyloid presence in BM clots taken at diagnosis in 84 patients with symptomatic MM and compared disease characteristics in MM with kappa paraprotein (kappa MM)/lambda MM with and without BM-AD...
2017: Journal of Blood Medicine
https://www.readbyqxmd.com/read/28281017/heart-transplantation-in-cardiac-amyloidosis
#3
REVIEW
Matthew Sousa, Gregory Monohan, Navin Rajagopalan, Alla Grigorian, Maya Guglin
"Cardiac amyloidosis" is the term commonly used to reflect the deposition of abnormal protein amyloid in the heart. This process can result from several different forms, most commonly from light-chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis, which in turn can represent wild-type (ATTRwt) or genetic form. Regardless of the origin, cardiac involvement is usually associated with poor prognosis, especially in AL amyloidosis. Although several treatment options, including chemotherapy, exist for different forms of the disease, cardiac transplantation is increasingly considered...
March 9, 2017: Heart Failure Reviews
https://www.readbyqxmd.com/read/28271734/overuse-of-organ-biopsies-in-immunoglobulin-light-chain-al-amyloidosis-the-consequence-of-failure-of-early-recognition
#4
Eli Muchtar, Angela Dispenzieri, Martha Q Lacy, Francis K Buadi, Prashant Kapoor, Suzanne R Hayman, Wilson Gonsalves, Rahma Warsame, Taxiarchis V Kourelis, Rajshekhar Chakraborty, Stephen Russell, John A Lust, Yi Lin, Ronald S Go, Steven Zeldenrust, S Vincent Rajkumar, David Dingli, Nelson Leung, Robert A Kyle, Shaji K Kumar, Morie A Gertz
INTRODUCTION: The diagnosis of amyloidosis requires histological confirmation of Congo-red (CR) deposits. The tissue source is preferably fat aspiration and/or bone marrow biopsy, but at times organ biopsy is required. METHODS: We studied 612 patients with systemic immunoglobulin light chain amyloidosis to characterize the tissues used to establish the diagnosis. RESULTS: The median number of tissue samples was 3. 95% of bone marrow (BM) biopsies were stained for CR, while 79% of patients had fat aspiration CR-stained...
March 8, 2017: Annals of Medicine
https://www.readbyqxmd.com/read/28261692/immunoglobulin-light-chains-form-an-extensive-and-highly-ordered-fibril-involving-the-n-and-c-termini
#5
Dennis W Piehl, Luis M Blancas-Mejía, Jonathan S Wall, Stephen J Kennel, Marina Ramirez-Alvarado, Chad M Rienstra
Light-chain (AL)-associated amyloidosis is a systemic disorder involving the formation and deposition of immunoglobulin AL fibrils in various bodily organs. One severe instance of AL disease is exhibited by the patient-derived variable domain (VL) of the light chain AL-09, a 108 amino acid residue protein containing seven mutations relative to the corresponding germline protein, κI O18/O8 VL. Previous work has demonstrated that the thermodynamic stability of native AL-09 VL is greatly lowered by two of these mutations, Y87H and N34I, whereas a third mutation, K42Q, further increases the kinetics of fibril formation...
February 28, 2017: ACS Omega
https://www.readbyqxmd.com/read/28252625/-light-chain-deposition-disease-is-a-hematologic-problem
#6
I G Rekhtina, L P Mendeleeva, L S Biryukova
AIM: To analyze clinical and laboratory data and treatment results in patients with light-chain deposition disease (LCDD). SUBJECTS AND METHODS: Nine patients with LCDD and kidney injury were examined. The diagnosis was based on the results of light and immunofluorescence microscopy of renal biopsy specimens. All the patients received bortezomib, cyclophosphamide, and dexamethasone (VCD) induction therapy. RESULTS: Six patients were diagnosed with multiple myeloma; in 3 patients LCDD was considered within monoclonal gammopathy manly involving the kidney...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28219562/isolated-pericardial-infiltration-without-myocardial-involvement-in%C3%A2-light-chain-related-amyloidosis
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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