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Al Amyloidosis

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https://www.readbyqxmd.com/read/28087478/renal-involvement-in-lysinuric-protein-intolerance-contribution-of-pathology-to-assessment-of-heterogeneity-of-renal-lesions
#1
Emmanuel Estève, Pauline Krug, Aurélie Hummel, Jean-Baptiste Arnoux, Olivia Boyer, Anais Brassier, Pascale de Lonlay, Vincent Vuiblet, Stéphanie Gobin, Rémi Salomon, Christine Piètrement, Jean-Paul Bonnefont, Aude Servais, Louise Galmiche
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disease caused by mutations in the SLC7A7 gene encoding the light subunit of a cationic amino acid transporter. Symptoms mimic primary urea cycle defects but dysimmune symptoms are also described. Renal involvement in LPI was first described in the 1980's. In 2007, it appeared that it could concern as much as 75% of LPI patients and could lead to end stage renal disease. The most common feature is proximal tubular dysfunction and nephrocalcinosis but glomerular lesions are also reported...
January 10, 2017: Human Pathology
https://www.readbyqxmd.com/read/28074646/differences-in-protein-concentration-dependence-for-nucleation-and-elongation-in-light-chain-amyloid-formation
#2
Luis Miguel 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 auto-catalytic reactions. Experimental data suggest the existence of a critical concentration to initiate fibril formation. As such, the initial concentration of soluble amyloidogenic protein is expected to have a profound effect on the rate of fibril formation...
January 11, 2017: Biochemistry
https://www.readbyqxmd.com/read/28056871/lung-adenocarcinoma-expressing-receptor-for-advanced-glycation-end-products-with-primary-systemic-al-amyloidosis-a-case-report-and-literature-review
#3
Shouichi Okamoto, Shinsaku Togo, Ichiro Nagata, Kazue Shimizu, Yoshika Koinuma, Yukiko Namba, Jun Ito, Toshimasa Uekusa, Kazuhisa Takahashi
BACKGROUND: Receptor for advanced glycation end-products (RAGE), a receptor for amyloids, is constitutively expressed in lungs and generally observed to be downregulated in lung cancer tissues. However, increasing levels of RAGE or serum amyloids is associated with poor outcome in lung cancer patients. We report a rare case of primary systemic amyloid light-chain (AL) amyloidosis in biopsy-proven multiple organs with early-stage non-small cell lung cancer (NSCLC) that displayed strong staining for RAGE in the tumour tissue...
January 5, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28049394/coexistence-of-amyloidosis-and-primary-sj%C3%A3-gren-s-syndrome-an-overview-amyloidosis-and-sj%C3%A3-gren-s-syndrome
#4
Gabriela Hernandez-Molina, David Faz-Muñoz, Miguel Astudillo-Angel, Alejandra Iturralde-Chávez, Edgardo Reyes
BACKGROUND: The association of primary Sjögren´s syndrome (SS) and amyloidosis has been recognized but scarcely assessed. OBJECTIVE: Herein we analyzed the literature regarding this association in order to describe a SS phenotype prone to both conditions. METHODS: PubMed and CINAHL databases were searched from inception until April 2016 for the key words: amyloidosis, amyloid, Sjögren's syndrome and their combinations. RESULTS: Most of the cases corresponded to localized amyloidosis mainly at skin and lung, whereas only three cases were systemic...
January 3, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28031465/aggregation-of-full-length-immunoglobulin-light-chains-from-al-amyloidosis-patients-is-remodeled-by-epigallocatechin-3-gallate
#5
Kathrin Andrich, Ute Hegenbart, Christoph Kimmich, Niraja Kedia, H Robert Bergen, Stefan Schönland, Erich E Wanker, Jan Bieschke
Intervention into amyloid deposition with anti-amyloid agents like the polyphenol Epigallocatechin-3-gallate (EGCG) is emerging as an experimental secondary treatment strategy in systemic light chain amyloidosis (AL). In both AL and Multiple Myeloma (MM), soluble immunoglobulin light chains (LC) are produced by clonal plasma cells, but only in AL they form amyloid deposits in vivo. We investigated the amyloid formation of patient-derived LC and their susceptibility to EGCG in vitro to probe commonalities and systematic differences in their assembly mechanisms...
December 28, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28025584/genome-wide-association-study-of-immunoglobulin-light-chain-amyloidosis-in-three-patient-cohorts-comparison-to-myeloma
#6
M I da Silva Filho, A Försti, N Weinhold, I Mezian, C Campo, S Huhn, J Nickel, P Hoffmann, M M Nöthen, K-H Jöckel, S Landi, J S Mitchell, D Johnson, G J Morgan, R Houlston, H Goldschmidt, A Jauch, P Milani, G Merlini, D Rowcieno, P Hawkins, U Hegenbart, G Palladini, A Wechalekar, S O Schönland, K Hemminki
Immunoglobulin light chain (AL) amyloidosis is characterized by tissue deposition of amyloid fibers derived from immunoglobulin light chain. AL amyloidosis and multiple myeloma (MM) originate from monoclonal gammopathy of undetermined significance. We wanted to characterize germline susceptibility to AL amyloidosis using a genome-wide association study (GWAS) on 1229 AL amyloidosis patients from Germany, UK and Italy, and 7526 healthy local controls. For comparison with MM, recent GWAS data on 3790 cases were used...
December 27, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28002971/new-and-developing-therapies-for-al-amyloidosis
#7
Giulia Zumbo, Omid Sadeghi-Alavijeh, Philip N Hawkins, Marianna Fontana
Systemic light-chain (AL) amyloidosis is an infiltrative disorder associated with an underlying plasma cells dyscrasia, in which monoclonal immunoglobulin light chains accumulate in an abnormal misfolded form as amyloid fibrils in the extracellular space. Symptoms and prognosis are governed by which organs are affected, and cardiac involvement is the major determinant of survival. Diagnosis requires demonstration of amyloid deposition and confirmation of the fibril protein type. Areas covered: This review will focus on the available treatments for systemic AL amyloidosis and on new drug targets and therapeutic approaches...
December 29, 2016: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/27974705/are-neurological-complications-of-monoclonal-gammopathy-of-undetermined-significance-underestimated
#8
Normann Steiner, Angelika Schwärzler, Georg Göbel, Wolfgang Löscher, Julia Wanschitz, Eberhard Gunsilius
OBJECTIVES: Monoclonal gammopathy of undetermined significance (MGUS) is a premalignancy preceding multiple myeloma (MM) or related disorders. Neurological symptoms caused by the monoclonal immunoglobulins or free light-chains are often associated with a high morbidity. We analyzed the prevalence of neuropathy, clinical features and the long-term outcome in 223 patients (pts.) with MGUS. PATIENTS AND METHODS: Between 1/2005 and 3/2015, 223 adult pts. with MGUS were identified in our database...
December 10, 2016: Oncotarget
https://www.readbyqxmd.com/read/27965280/longitudinal-systolic-strain-cardiac-function-improvement-and-survival-following-treatment-of-light-chain-al-cardiac-amyloidosis
#9
Francesco Salinaro, Hans K Meier-Ewert, Edward J Miller, Shivda Pandey, Vaishali Sanchorawala, John L Berk, David C Seldin, Frederick L Ruberg
AIMS: To determine whether echocardiographic longitudinal systolic strain (LS) parameters identify short-term improvement following chemotherapy for light-chain (AL) cardiac amyloidosis (CA). Among patients with CA, standard echocardiographic measures are commonly unchanged at 1 year following successful chemotherapy, despite observed reductions in cardiac biomarkers. METHODS AND RESULTS: We retrospectively identified 61 patients with AL-CA treated with high-dose melphalan or bortezomib-based regimens...
December 12, 2016: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/27942184/an-interesting-case-of-renal-amyloidosis
#10
A Hajra, D Bandyopadhyay
In amyloidosis, there is an extracellular deposition of beta-sheet fibrils. Over 25 proteins have been demonstrated to form amyloid. One of them is Ig amyloid light (AL) chains. We are presenting a 40-year-old female who presented with progressive kyphoscoliosis for last 2 years following a minor trauma and bilateral pedal edema for last 3 months. On further investigation, we found that she had a biclonal variety of MM with amyloidosis of kidney leading to massive proteinuria. Very few case reports are available where patient with biclonal variety of MM develop renal amyloidosis...
November 2016: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/27935845/stability-and-aggregation-propensity-do-not-fully-account-for-the-association-of-various-germline-variable-domain-gene-segments-with-light-chain-amyloidosis
#11
Sergio A Garay Sánchez, Francisco Javier Rodríguez Álvarez, Guadalupe Zavala-Padilla, Luz María Mejia-Cristobal, Armando Cruz-Rangel, Miguel Costas, D Alejandro Fernández Velasco, Jorge Melendez-Zajgla, Luis Del Pozo-Yauner
Variable domain (VL) gene segments exhibit variable tendencies to be associated with light chain amyloidosis (AL). While few of them are very frequent in AL and give rise to most of the amyloidogenic light chains compiled at the sequence databases, other are rarely found among the AL cases. To analyze to which extent these tendencies depend on folding stability and aggregation propensity of the germline VL protein, we characterized VL proteins encoded by four AL-associated germline gene segments and one not associated to AL...
January 13, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/27933393/prevalence-and-prognostic-impact-of-left-sided-valve-thickening-in-systemic-light-chain-amyloidosis
#12
Dania Mohty, Sarah Pradel, Julien Magne, Bahaa Fadel, Cyrille Boulogne, Vincent Petitalot, Safaa Raboukhi, Nicole Darodes, Thibaud Damy, Victor Aboyans, Arnaud Jaccard
BACKGROUND: Left heart valve thickening (LVT) was described in patients with light-chain amyloidosis (AL). This phenomenon reflects likely infiltration of the valve by amyloid proteins. However, the prevalence of LVT and its prognostic value have not been investigated in patients with AL. METHODS AND RESULTS: Comprehensive transthoracic echocardiography was performed at baseline in 150 patients [median age 68 (33-87) years; 59% male] with confirmed AL. The presence of abnormal mitral and/or aortic valve thickening (>3 mm) was assessed in all included patients...
December 8, 2016: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/27927236/chronic-infantile-neurological-cutaneous-and-articular-cinca-syndrome-a-review
#13
REVIEW
Martina Finetti, Alessia Omenetti, Silvia Federici, Roberta Caorsi, Marco Gattorno
INTRODUCTION: The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically characterized by the triad of skin rash, arthropathy and central nervous system manifestations. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS). CLINICAL DESCRIPTION AND ETIOLOGY: The syndrome is due to autosomal dominant gain of function mutations in NLRP3, which encodes a key component of the innate immunity that regulates the activation and secretion of interleukin (IL)-1β...
December 7, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27908298/reply-to-long-term-tocilizumab-efficacy-in-a-patient-with-psoriatic-arthritis-and-aa-amyloidosis-dinoia-et-al
#14
Thirusha Lane, Helen J Lachmann
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October 27, 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27904139/interphase-fluorescence-in-situ-hybridization-in-untreated-al-amyloidosis-has-an-independent-prognostic-impact-by-abnormality-type-and-treatment-category
#15
E Muchtar, A Dispenzieri, S K Kumar, R P Ketterling, D Dingli, M Q Lacy, F K Buadi, S R Hayman, P Kapoor, N Leung, R Chakraborty, W Gonsalves, R Warsame, T V Kourelis, S Russell, J A Lust, Y Lin, R S Go, S Zeldenrust, R A Kyle, S V Rajkumar, M A Gertz
The significance of interphase fluorescence in situ hybridization (iFISH) by regimen type was assessed in 692 immunoglobulin light-chain (AL) amyloidosis patients with iFISH at diagnosis. First-line treatment was categorized as stem cell transplant and three non-transplant regimens. The most common abnormality was t(11;14) (49% of patients) followed by monosomy 13/del(13q) (36%) and trisomies (26%). A lower rate of very good partial response (VGPR) or better was observed in patients with t(11;14) treated with bortezomib-based (52% vs 77%; P=0...
December 16, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27900617/new-and-evolving-concepts-regarding-the-prognosis-and-treatment-of-cardiac-amyloidosis
#16
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/27885144/treatment-of-multiple-myeloma-in-a-heart-transplant-recipient-focus-on-the-immunomodulatory-effects-of-lenalidomide
#17
Lola Xie, Bartosz Jozwik, Phillip Weeks, L Maximilian Buja, Robert Brown, Sriram Nathan, Keshava Rajagopal, Christina Paruthi, Biswajit Kar, Pranav Loyalka, Indranee Rajapreyar
Malignancy following solid organ transplant remains a significant threat to the survival of cardiac transplant recipients. Plasma cell dyscrasias including multiple myeloma have been encountered in this population, and medication treatments traditionally used to treat these disorders demonstrate immunomodulatory effects that may have implications on the transplanted allograft. Lenalidomide is an immunomodulatory agent that has been used to treat plasma cell disorders, including light-chain amyloidosis (AL) and multiple myeloma, and represents such a class of medications in which the risks and benefits in the solid organ transplant population remain to be fully elucidated...
November 24, 2016: Progress in Transplantation
https://www.readbyqxmd.com/read/27879147/pre-transplantation-novel-agent-induction-predicts-progression-free-survival-for-patients-with-immunoglobulin-light-chain-amyloidosis-undergoing-high-dose-melphalan-and-autologous-stem-cell-transplantation
#18
Andrew J Cowan, Zandra K Klippel, Philip A Stevenson, Teresa S Hyun, Sherilyn Tuazon, Pamela S Becker, Damian J Green, Leona A Holmberg, David G Coffey, Ajay K Gopal, Edward N Libby
INTRODUCTION: High-dose melphalan and autologous stem cell transplantation (HDM/SCT) is an effective treatment modality for immunoglobulin light-chain (AL) amyloidosis; however, its application remains restricted to patients with good performance status and limited organ involvement. In recent years, the paradigm for AL amyloidosis has changed with the introduction of novel agents such as immunomodulatory drugs (IMiDs) and proteasome inhibitors (PIs). We hypothesized that use of novel agent induction regimens has improved outcomes for patients with AL amyloidosis undergoing HDM/SCT at our center...
December 2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/27878699/differentiation-of-light-chain-cardiac-amyloidosis-from-hypertrophic-cardiomyopathy-using-myocardial-mechanical-parameters-by-velocity-vector-imaging-echocardiography
#19
Lu Zhang, Xiao Zhou, Jing Wang, Yang Mu, Bohan Liu, Wenqing Lv, Ye Wang, Hongwei Liu, Hongbin Liu, Guang Zhi
We aimed to evaluate the diagnostic efficacy of layered velocity vector imaging (VVI)-derived left ventricular (LV) mechanical parameters in the differential diagnosis of primary light-chain cardiac amyloidosis (AL-CA) and hypertrophic cardiomyopathy (HCM). We recruited 35 subjects with histologically-diagnosed AL-CA, 35 subjects with HCM, and 30 age-matched healthy controls. We used conventional echocardiography and electrocardiogram to evaluate general heart function and electrophysiology properties. Furthermore, we applied two-dimensional VVI echocardiography to assess the layered mechanical parameters during systole, including endocardial and epicardial longitudinal strain (ENDO and EPI LSsys), circumferential strain (CSsys), radial strain (RSsys), rotation (ROT) and twist (TWI), in different LV walls and levels...
November 23, 2016: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/27872470/hereditary-amyloidosis-with-recurrent-lung-infiltrates
#20
Alberto E Revelo, Crischelle Magaspi, George Maguire, Wilbert S Aronow
BACKGROUND Amyloidosis is a protein conformational disorder characterized by extracellular deposition of amyloid fibrils in extracellular tissue. Lung involvement is most commonly caused by secondary AL amyloidosis. The familial autosomal-dominant senile transthyretin (ATTR) disease manifests mainly as polyneuropathy and restrictive cardiomyopathy denoting the name familial amyloidotic polyneuropathy (FAP). Rarely, this form manifests with clinical and radiologically relevant respiratory tract symptoms and lung involvement...
November 22, 2016: American Journal of Case Reports
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