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Light chain amyloidosis

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https://www.readbyqxmd.com/read/28926601/utility-of-abdominal-skin-plus-subcutaneous-fat-and-rectal-mucosal-biopsy-in-the-diagnosis-of-al-amyloidosis-with-renal-involvement
#1
Ting Li, Xianghua Huang, Shuiqin Cheng, Liang Zhao, Guisheng Ren, Wencui Chen, Qingwen Wang, Caihong Zeng, Zhihong Liu
OBJECTIVES: Skin fat biopsy of the abdominal wall is a simple and safe method for detecting amyloidosis, and rectal mucosal biopsy is also frequently used for screening for the disease; however, the sensitivity of these approaches has not been fully studied. The aim of this study was to evaluate the efficacy of skin fat biopsy combined with rectal mucosal biopsy as a screening procedure for the diagnosis of systemic immunoglobulin light-chain (AL) amyloidosis. METHODS: We retrospectively analyzed 224 AL amyloidosis patients confirmed by renal biopsy, including a test group of 165 patients and validation group of 59 patients...
2017: PloS One
https://www.readbyqxmd.com/read/28919633/clinical-presentation-and-outcomes-in-light-chain-amyloidosis-patients-with-non-evaluable-serum-free-light-chains
#2
S Sidana, N Tandon, A Dispenzieri, M A Gertz, F K Buadi, M Q Lacy, D Dingli, A L Fonder, S R Hayman, M A Hobbs, W I Gonsalves, Y L Hwa, P Kapoor, R A Kyle, N Leung, R S Go, J A Lust, S J Russell, S R Zeldenrust, V Rajkumar, S K Kumar
Hematologic response criteria in light chain (AL) amyloidosis require the difference in involved and uninvolved free light chains (dFLC) to be at least 5 mg/dl. We describe the clinical presentation and outcomes of newly diagnosed amyloidosis patients with dFLC<5 mg/dl (non-evaluable dFLC; 14%, n=165) compared to patients with dFLC ⩾5 mg/dl (evaluable dFLC; 86%, n=975). Patients with non-evaluable dFLC had less cardiac involvement (40 vs 80%, P<0.001), less liver involvement (11 vs 17%, P=0.04) and a trend towards less gastrointestinal involvement (18 vs 25%, P=0...
September 18, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28916410/kinetic-stability-and-sequence-structure-studies-of-urine-derived-bence-jones-proteins-from-multiple-myeloma-and-light-chain-amyloidosis-patients
#3
Luis M Blancas-Mejía, Emily B Martin, Angela Williams, Jonathan S Wall, Marina Ramirez-Alvarado
It is now accepted that the ability of a protein to form amyloid fibrils could be associated both kinetic and thermodynamic protein folding parameters. A recent study from our laboratory using recombinant full-length (encompassing the variable and constant domain) immunoglobulin light chains found a strong kinetic control of the protein unfolding for these proteins. In this study, we are extending our analysis by using urine-derived Bence Jones proteins (BJPs) from five patients with light chain (AL) amyloidosis and four patients with multiple myeloma (MM)...
September 1, 2017: Biophysical Chemistry
https://www.readbyqxmd.com/read/28910817/the-lung-in-dysregulated-states-of-humoral-immunity
#4
Yurdagül Uzunhan, Florence Jeny, Marianne Kambouchner, Morgane Didier, Diane Bouvry, Hilario Nunes, Jean-François Bernaudin, Dominique Valeyre
In common variable immunodeficiency, lung manifestations are related to different mechanisms: recurrent pneumonias due to encapsulated bacteria responsible for diffuse bronchiectasis, diffuse infiltrative pneumonia with various patterns, and lymphomas, mostly B cell extranodal non-Hodgkin type. The diagnosis relies on significant serum Ig deficiency and the exclusion of any primary or secondary cause. Histopathology may be needed. Immunoglobulin (IgG) replacement is crucial to prevent infections and bronchiectasis...
September 15, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28906148/hip-and-knee-arthroplasty-are-common-among-patients-with-transthyretin-cardiac-amyloidosis-occurring-years-before-cardiac-amyloid-diagnosis-can-we-identify-affected-patients-earlier
#5
Jonah Rubin, Julissa Alvarez, Sergio Teruya, Adam Castano, Ronald A Lehman, Mark Weidenbaum, Jeffrey A Geller, Stephen Helmke, Mathew S Maurer
Transthyretin cardiac amyloidosis (ATTR-CA) causes a restrictive cardiomyopathy in older adults, often diagnosed at advanced stages when emerging therapies in late phase clinical trials may not have clinical benefit. This investigation aimed to detect clinical entities that may provide more advanced warning of ATTR-CA. Since ATTR preferentially deposits in ligaments, tendons, and articular cartilage, we hypothesized that ATTR-CA patients have a greater prevalence of total hip (THA) and knee (TKA) arthroplasties compared with the general population, and that arthroplasty occurs significantly before ATTR-CA diagnosis...
September 14, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28903572/biomarkers-in-immunoglobulin-light-chain-amyloidosis
#6
Z Kufová, T Sevcikova, K Growkova, P Vojta, J Filipová, Z Adam, L Pour, M Penka, R Rysava, P Němec, L Brozova, P Vychytilova, A Jurczyszyn, S Grosicki, A Barchnicka, M Hajdúch, M Simicek, R Hájek
Immunoglobulin light chain amyloidosis (AL amyloidosis - ALA) is a monoclonal gammopathy characterized by presence of aberrant plasma cells producing amyloidogenic immunoglobulin light chains. This leads to formation of amyloid fibrils in various organs and tissues, mainly in heart and kidney, and causes their dysfunction. As amyloid depositing in target organs is irreversible, there is a big effort to identify biomarker that could help to distinguish ALA from other monoclonal gammopathies in the early stages of disease, when amyloid deposits are not fatal yet...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/28903570/czech-registry-of-monoclonal-gammopathies-technical-solution-data-collection-and-visualisation
#7
L Brozova, D Schwarz, I Snabl, J Kalina, B Pavlickova, M Komenda, J Jarkovský, P Němec, D Horinek, Z Stefanikova, L Pour, R Hájek, V Maisnar
BACKGROUND: The Registry of Monoclonal Gammopathies (RMG) was established by the Czech Myeloma Group in 2007. RMG is a registry designed for the collection of clinical data concerning diagnosis, treatment, treatment results and survival of patients with monoclonal gammopathies. Data on patients with monoclonal gammopathy of undetermined significance (MGUS), Waldenström macroglobulinaemia (WM), multiple myeloma (MM) or primary AL ("amyloid light-chain") amyloidosis are collected in the registry...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/28898537/stabilizing-an-amyloidogenic-%C3%AE-6-light-chain-variable-domain
#8
Oscar D Luna-Martínez, Alejandra Hernández-Santoyo, Myriam I Villalba-Velázquez, Rosalba Sánchez-Alcalá, D Alejandro Fernández-Velasco, Baltazar Becerril
Light chain amyloidosis is a lethal disease where vital organs are damaged by the fibrillar aggregation of monoclonal light chains. λ6a is an immunoglobulin light chain encoded by the germ line gene segment implicated in this disease. AR is a patient-derived germ line variant with a markedly low thermodynamic stability and prone to form fibrils in vitro in less than an hour. Here, we sought to stabilize this domain by mutating some residues back to the germ line sequence, and the most stabilizing mutations were the single mutant AR-F21I and the double mutant AR-F21/IV104L, both located in the hydrophobic core...
September 12, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28891012/visualization-of-multiple-organ-amyloid-involvement-in-systemic-amyloidosis-using-11-c-pib-pet-imaging
#9
Naoki Ezawa, Nagaaki Katoh, Kazuhiro Oguchi, Tsuneaki Yoshinaga, Masahide Yazaki, Yoshiki Sekijima
PURPOSE: To investigate the utility of Pittsburgh compound B (PiB) positron emission tomography (PET) imaging for evaluating whole-body amyloid involvement in patients with systemic amyloidosis. METHODS: Whole-body (11)C-PiB PET was performed in seven patients with systemic immunoglobulin light-chain (AL) amyloidosis, seven patients with hereditary transthyretin (ATTRm) amyloidosis, one asymptomatic TTR mutation carrier and three healthy controls. The correlations between clinical organ involvement, radiological (11)C-PiB uptake and histopathological findings were analysed for each organ...
September 10, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28888072/characterization-of-isolated-amyloid-myopathy
#10
Teerin Liewluck, Margherita Milone
BACKGROUND AND PURPOSE: Amyloid myopathy frequently occurs in the setting of systemic amyloidosis and less commonly in isolation (isolated amyloid myopathy). Anoctaminopathy-5 and dysferlinopathy were recently recognized as causes of isolated amyloid myopathy. The present study aimed to characterize the isolated amyloid myopathy and to compare it with amyloid myopathy associated with systemic amyloidosis. METHODS: We searched Muscle Laboratory database to identify patients with pathologically-confirmed amyloid myopathy and were seen in neurology clinics between January 1998 and September 2016...
September 9, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28885307/the-treatment-of-paraprotein-related-kidney-disease
#11
Colin A Hutchison, Fei Xiong, Peter Mollee
PURPOSE OF REVIEW: Myeloma kidney and amyloid light-chain (AL) amyloidosis remain the principal kidney complications of paraproteins. In this review, we update readers to many of the recent advances which have occurred in the care and outcomes for patients with these presentations. RECENT FINDINGS: Myeloma kidney has historically caused a severe acute kidney injury with very poor outcomes. The combination of new diagnostic techniques, enabling a rapid diagnosis and novel chemotherapy agents has transformed these poor outcomes for the better...
September 6, 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28875827/multiple-myeloma-associated-intestinal-amyloidosis-intestinal-pseudo-obstruction-falsely-considered-as-an-ascites
#12
Vladimir Milivojevic, Maja Stojanovic, Ivan Rankovic, Marjan Micev, Rada Jesic Vukicevic, Tomica Milosavljevic
INTRODUCTION: Amyloidosis is a group of diseases pathohistologicaly diagnosed by characteristic extracellular deposition of an abnormal fibrillary protein (i.e. amyloid) into organs, leading to organ dysfunction secondary to destruction of normal tissue architecture. METHOD: Case-report of a 44 year-old female, presenting with massive abdominal distension clinically suspected of ascites. RESULTS: On admission, the patient was complaining of nausea, vomiting, abdominal pain, distension and bloating associated with weight loss and diarrhea...
August 29, 2017: Reviews on Recent Clinical Trials
https://www.readbyqxmd.com/read/28871936/xanthoma-like-skin-changes-in-an-elderly-woman-with-a-normal-lipid-profile
#13
Piotr Nockowski, Zdzisław Woźniak, Adam Reich, Joanna Maj
Dear Editor, An 83-year-old woman developed yellow-brownish infiltrates, nodules, and tumors mimicking xanthomas, mostly involving the periorbital and chest area within three months (Figure 1). She had no abnormalities in serum cholesterol or triglycerides levels. A detailed laboratory analysis revealed the presence of mild monoclonal gammopathy with a presence of immunoglobulin G (IgG) kappa light chains; however, according to hematologist consultation, it did not require medical intervention. Imaging assessment and ultrasound examination did not show any specific involvement of internal organs...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28871194/effect-of-amino-acid-mutations-on-the-conformational-dynamics-of-amyloidogenic-immunoglobulin-light-chains-a-combined-nmr-and-in-silico-study
#14
Sujoy Mukherjee, Simon P Pondaven, Kieran Hand, Jillian Madine, Christopher P Jaroniec
The conformational dynamics of a pathogenic κ4 human immunoglobulin light-chain variable domain, SMA, associated with AL amyloidosis, were investigated by (15)N relaxation dispersion NMR spectroscopy. Compared to a homologous light-chain, LEN, which differs from SMA at eight positions but is non-amyloidogenic in vivo, we find that multiple residues in SMA clustered around the N-terminus and CDR loops experience considerable conformational exchange broadening caused by millisecond timescale protein motions, consistent with a destabilized dimer interface...
September 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28870471/challenging-occam-s-razor-an-unusual-combination-of-sarcoidosis-and-amyloidosis-the-value-of-cardiac-magnetic-resonance-imaging-in-infiltrative-cardiomyopathies
#15
Eva Nyktari, Vassilios S Vassiliou, Monika Arzanauskaite, Peter Gatehouse, Andreas Greiser, Ashutosh Wechalekar, Janet Gilbertson, Iain Pierce, Rakesh Sharma, Raad Mohiaddin
We describe the case of a 66-year old woman with the extremely rare combination of sarcoidosis and amyloidosis (light chain) and the important role of cardiovascular magnetic resonance imaging to differentiate between these 2 infiltrative diseases. Myocardial characterization with T1 mapping can improve disease detection, especially in overlap cases, and possibly obviate the need for cardiac biopsy.
July 18, 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28869340/diagnostic-utility-of-cardiac-troponin-t-level-in-patients-with-cardiac-amyloidosis
#16
Seiji Takashio, Megumi Yamamuro, Yasuhiro Izumiya, Kyoko Hirakawa, Kyohei Marume, Masahiro Yamamoto, Mitsuharu Ueda, Taro Yamashita, Hatsue Ishibashi-Ueda, Satoshi Yasuda, Hisao Ogawa, Yukio Ando, Toshihisa Anzai, Kenichi Tsujita
AIM: The aim of this study was to evaluate the diagnostic utility of high-sensitivity cardiac troponin T (hs-cTnT) levels in discriminating cardiac amyloidosis from patients with cardiac hypertrophy caused by aetiologies other than cardiac amyloidosis. METHODS AND RESULTS: Serum hs-cTnT levels were measured in 96 patients with cardiac amyloidosis (light chain: 23, wild-type transthyretin amyloidosis: 40, and mutated transthyretin amyloidosis: 33), and 91 patients with other causes of cardiac hypertrophy who were confirmed to have no cardiac amyloidosis by endomyocardial biopsy (control group)...
September 4, 2017: ESC Heart Failure
https://www.readbyqxmd.com/read/28868800/clinical-characteristics-of-laryngeal-versus-nonlaryngeal-amyloidosis
#17
Shannon F Rudy, Caroline C Jeffery, Edward J Damrose
OBJECTIVES/HYPOTHESIS: Amyloidosis represents a heterogeneous group of disorders marked by abnormal protein formation and deposition. Laryngeal amyloidosis is rare and classically thought to remain isolated with little risk of systemic involvement or associated malignancy. This study sought to further characterize differences in clinical characteristics between patients with laryngeal and nonlaryngeal amyloidosis. STUDY DESIGN: Retrospective case-control study. METHODS: The Stanford Translational Research Integrated Database Environment was searched to identify patients with biopsy-confirmed laryngeal amyloidosis and patients with amyloidosis without laryngeal involvement on endoscopy...
September 4, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28865972/high-dose-melphalan-and-stem-cell-transplantation-in-patients-on-dialysis-due-to-al-amyloidosis-and-monoclonal-immunoglobulin-deposition-disease
#18
Felipe Batalini, Laura Econimo, Karen Quillen, J Mark Sloan, Shayna Sarosiek, Dina Brauneis, Andrea Havasi, Lauren Stern, Laura Dember, Vaishali Sanchorawala
The kidney is the most common organ affected by immunoglobulin light-chain (AL) amyloidosis and monoclonal immunoglobulin deposition disease (MIDD), often leading to end stage renal disease (ESRD). High-dose melphalan and stem cell transplantation (HDM/SCT) is effective for selected patients with AL amyloidosis, with high rates of complete hematologic responses and potential for improvement in organ dysfunction. Data on tolerability and response to HDM/SCT in patients with ESRD due to AL amyloidosis and MIDD are limited...
August 30, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28861923/unraveling-hypothyroidism-in-al-amyloidosis-authors-reply
#19
Eli Muchtar, Morie Gertz
We read with interest the insightful comments by Benvenga and Guarneri (1) on our recently published paper which assessed the high prevalence of hypothyroidism among patients with immunoglobulin light chain (AL) amyloidosis.(2) The paper was the first research paper to address this topic in AL amyloidosis, so we appreciate any insights that can expand the understanding of this complex disease. Amyloidosis is an extremely heterogeneous disorder, and therefore various pathogenic mechanisms may play a role in organ dysfunction...
September 1, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28861330/a-plasma-cell-dyscrasia-presenting-as-amyloid-cardiomyopathy-and-autonomic-dysfunction-in-a-healthy-patient
#20
Rabih Tabet, Julie Zaidan, Boutros Karam, Samer Saouma, Foad Ghavami
Systemic amyloidosis is a rare multisystem disease caused by incorrectly folded proteins that deposit pathologically in different tissues and organs of the human body. It has a very wide spectrum of clinical presentations according to the affected organ(s), and its diagnosis is commonly delayed. Cardiac involvement is the leading cause of morbidity and mortality and carries a poor prognosis, especially in primary light chain amyloidosis. Therefore any delay in the diagnosis can result in devastating outcomes for the patient...
June 29, 2017: Curēus
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