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Monoclonal gammopathy

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https://www.readbyqxmd.com/read/28542843/next-generation-sequencing-of-a-family-with-a-high-penetrance-of-monoclonal-gammopathies-for-the-identification-of-candidate-risk-alleles
#1
Niccolo Bolli, Matteo Barcella, Erika Salvi, Francesca D'Avila, Antonio Vendramin, Chiara De Philippis, Nikhil C Munshi, Herve Avet-Loiseau, Peter J Campbell, Alberto Mussetti, Cristiana Carniti, Francesco Maura, Cristina Barlassina, Paolo Corradini, Vittorio Montefusco
BACKGROUND: The authors describe a family with a high penetrance of plasma cell dyscrasias, suggesting inheritance of an autosomal dominant risk allele. METHODS: The authors performed whole-exome sequencing and reported on a combined approach aimed at the identification of causative variants and risk loci, using the wealth of data provided by this approach. RESULTS: The authors identified gene mutations and single-nucleotide polymorphisms of potential significance, and pinpointed a known risk locus for myeloma as a potential area of transmissible risk in the family...
May 23, 2017: Cancer
https://www.readbyqxmd.com/read/28540748/expression-of-the-il-6-receptor-alpha-chain-cd126-in-normal-and-abnormal-plasma-cells-in-monoclonal-gammopathy-of-undetermined-significance-and-smoldering-myeloma
#2
Dalia Abdel-Raouf Salem, Neha Korde, David J Venzon, David J Liewehr, Irina Maric, Katherine R Calvo, Raul Braylan, Prashant R Tembhare, Constance M Yuan, Carl Ola Landgren, Maryalice Stetler-Stevenson
IL-6 activity in normal plasma cells (nPCs) and abnormal plasma cells (aPCs) is CD126 (subunit of IL-6 receptor) dependent. We quantified CD126 expression on nPCs and aPCs in monoclonal gammopathy of undetermined significance (MGUS), smoldering myeloma (SMM), and multiple myeloma (MM). CD126 was detected on all nPCs and aPCs indicating that CD126 does not have diagnostic utility. CD126 expression was higher in aPCs than in nPCs in 85% SMM but only 41% MGUS and there was evidence that CD126 was higher in aPCs than nPCs in the SMM (p = ...
May 25, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28522957/crohn-s-disease-and-smoldering-multiple-myeloma-a-case-report-and-literature-review
#3
So Young Park, Jae Min Kim, Hyun Joon Kang, Minje Kim, Jae Joon Han, Chi Hoon Maeng, Sun Kyung Baek, Hwi-Joong Yoon, Si-Young Kim, Hyo Jong Kim
Crohn's disease (CD) is a chronic inflammatory bowel disease (IBD) that presents with abdominal pain, weight loss, and diarrhea. Although the etiology has not been fully elucidated, both environmental and genetic causes are known to be involved. In chronic inflammatory conditions such as IBD, B lymphocytes are chronically stimulated, and they induce monoclonal expansion of plasma cells, sometimes resulting in monoclonal gammopathy of undetermined significance. Immunomodulators that are commonly used to control inflammation, such as tumor necrosis factor-α (TNF-α) blockers could increase the possibility of hematologic malignancy...
April 2017: Intestinal Research
https://www.readbyqxmd.com/read/28508985/light-chain-fanconi-syndrome-in-a-patient-with-acute-myeloid-leukemia-and-monoclonal-gammopathy-of-undetermined-significance
#4
Daniel W Ross, Rimda Wanchoo, Adriana Guigova, Cristina Ghiuzeli, Steven L Allen, Kenar D Jhaveri
Proximal tubules are a target for paraproteinemic diseases. Cast nephropathy, light chain deposition diseases, and amyloidosis are frequently encountered in patients with multiple myeloma. Rarely, a subset of patients develop light chain Fanconi syndrome (LCFS). LCFS has been reported with multiple myeloma, monoclonal gammopathy of renal significance (MGRS), chronic lymphocytic leukemia, Waldenstrom's macroglobulinemia and diffuse large B-cell lymphoma. No cases have been described with other hematologic malignancies...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28508971/short-term-outcome-and-quality-of-life-in-kidney-transplant-recipient-with-monoclonal-gammopathy
#5
Masaaki Yanishi, Hiroyasu Tsukaguchi, Takashi Yoshida, Hisanori Taniguchi, Kenji Yoshida, Takao Mishima, Yoshihiro Komai, Kaneki Yasuda, Masato Watanabe, Motohiko Sugi, Hidefumi Kinoshita, Tadashi Matsuda
Monoclonal gammopathy of undetermined significance (MGUS) is the common pre-malignant B cell disorders with a general prevalence of 3-5 % at age over 50. Because of the potential malignant transformation and immune insufficiency, pre-transplant MGUS recipient should be carefully followed after allograft transplantation. The post-transplant prognosis and quality of life (QOL) in patient with MGUS have not yet been fully determined. The aim of this study is to evaluate function and pathology of the renal allograft and self-assessment QOL changes during 2 years after transplantation in our case of MGUS-bearing recipient...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28502031/vitamin-d-and-plasma-cell-dyscrasias-reviewing-the-significance
#6
REVIEW
Nicholas Burwick
Monoclonal gammopathy of undetermined significance (MGUS) is a clonal plasma cell disorder and precursor disease to multiple myeloma and other related cancers. While MGUS is considered a benign disorder, with a low risk of disease progression, patients have altered bone microarchitecture and an increased risk of bone fracture. In addition, alterations in immune function are regularly found to correlate with disease activity. Vitamin D, an important hormone for bone and immune health, is commonly deficient in multiple myeloma patients...
May 13, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28498784/depth-of-response-in-multiple-myeloma-a-pooled-analysis-of-three-pethema-gem-clinical-trials
#7
Juan-Jose Lahuerta, Bruno Paiva, Maria-Belen Vidriales, Lourdes Cordón, Maria-Teresa Cedena, Noemi Puig, Joaquin Martinez-Lopez, Laura Rosiñol, Norma C Gutierrez, María-Luisa Martín-Ramos, Albert Oriol, Ana-Isabel Teruel, María-Asunción Echeveste, Raquel de Paz, Felipe de Arriba, Miguel T Hernandez, Luis Palomera, Rafael Martinez, Alejandro Martin, Adrian Alegre, Javier De la Rubia, Alberto Orfao, María-Victoria Mateos, Joan Blade, Jesus F San-Miguel
Purpose To perform a critical analysis on the impact of depth of response in newly diagnosed multiple myeloma (MM). Patients and Methods Data were analyzed from 609 patients who were enrolled in the GEM (Grupo Español de Mieloma) 2000 and GEM2005MENOS65 studies for transplant-eligible MM and the GEM2010MAS65 clinical trial for elderly patients with MM who had minimal residual disease (MRD) assessments 9 months after study enrollment. Median follow-up of the series was 71 months. Results Achievement of complete remission (CR) in the absence of MRD negativity was not associated with prolonged progression-free survival (PFS) and overall survival (OS) compared with near-CR or partial response (median PFS, 27, 27, and 29 months, respectively; median OS, 59, 64, and 65 months, respectively)...
May 12, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28493835/expression-and-release-of-glucose-regulated-protein-78-grp78-in-multiple-myeloma
#8
Normann Steiner, Bojana Borjan, Roman Hajek, Karin Jöhrer, Georg Göbel, Wolfgang Willenbacher, Johann Kern, Eberhard Gunsilius, Gerold Untergasser
INTRODUCTION: Multiple myeloma (MM) is a plasma cell neoplasm that is mostly incurable due to acquired resistance during the treatment course. Thus, we evaluated expression and release of glucose-regulated protein 78 kDa (GRP78/BiP), an endoplasmic reticulum (ER) based pro-survival chaperone involved in immunoglobulin folding and unfolded protein responses. RESULTS: GRP78 protein expression in the ER and on the cell surface did not significantly differ between MGUS, NDMM and RRMM patients although there was a trend to higher surface expression in RRMM...
April 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28491436/primary-bronchial-carcinoma-associated-with-bone-marrow-metastasis-and-paraneoplastic-monoclonal-gammopathy-in-a-cat
#9
Mario Cervone, Stéphanie Beurlet
CASE SUMMARY: Herein we describe an unusual metastatic pattern and paraneoplastic manifestation of a bronchial carcinoma in a cat. An 8 year-old cat presented with a diminished appetite, dysphagia, weight loss, lethargy and coughing. Thoracic radiographs revealed a lung mass. Bronchial carcinoma was diagnosed on the basis of histology and was associated with a lymphoplasmocytic infiltration of the fibrovascular stroma. Biochemistry showed hyperproteinaemia. Serum protein electrophoresis showed a narrow spike in the gamma region...
July 2016: JFMS Open Rep
https://www.readbyqxmd.com/read/28490364/sporadic-late-onset-nemaline-myopathy-clinico-pathological-characteristics-and-review-of-76-cases
#10
REVIEW
Lukas J Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A Petersen, Thomas Tousseyn, Dietmar R Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y Van den Bergh, Jörg B Schulz, Joachim Weis, Kristl G Claeys
BACKGROUND: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a comprehensive overview of SLONM are lacking. METHODS: We studied the clinico-pathological features, treatment and outcome in a large cohort of 76 patients with SLONM, comprising 10 new patients and 66 cases derived from a literature meta-analysis (PubMed, 1966-2016), and compared these with 15 reported HIV-associated nemaline myopathy (HIV-NM) cases...
May 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28487450/pulmonary-malt-lymphoma-in-patients-with-sjogren-s-syndrome
#11
Ralph Yachoui, Chady Leon, Kajal Sitwala, Mazen Kreidy
To describe clinical features and outcomes of seven patients with pulmonary mucosa-associated lymphoid tissue (MALT) lymphoma in the setting of underlying primary Sjogren's syndrome from a single center, we reviewed medical records of consecutive patients with pulmonary MALT lymphoma evaluated at our facility from January 1, 1999 to December 31, 2015 for clinical features, laboratory, pathologic and radiographic findings, management, and outcomes. Out of 13 patients with pulmonary MALT lymphoma, 7 (54 %) met the criteria for Sjogren's syndrome...
May 9, 2017: Clinical Medicine & Research
https://www.readbyqxmd.com/read/28485366/plasma-cell-leukemia-single-institution-experience
#12
K Govind Babu, Linu Abraham Jacob, Ankit Agarwal, K C Lakshmaiah, D Lokanatha, M C Suresh Babu, L K Rajeev, K N Lokesh, A H Rudresha
BACKGROUND: The first case of plasma cell leukemia (PCL) was recognized by Gluzinski and Reichentein. It is the most aggressive among the monoclonal gammopathies. It is diagnosed by the presence of more than 20% plasma cells in the peripheral blood or an absolute plasma cell count of> 2000/mm3. Because of the relatively low incidence, most data come from case reports and retrospective studies. No prospective series have been published, and only seven reports including more than twenty patients have been identified...
October 2016: Indian Journal of Cancer
https://www.readbyqxmd.com/read/28482711/the-presence-of-monoclonal-gammopathy-in-ph-negative-myeloproliferative-neoplasms-is-associated-with-a-detrimental-effect-on-outcomes
#13
Lenaïg Le Clech, Mehdi Sakka, Ahmed Meskar, Helene Kerspern, Jean-Richard Eveillard, Christian Berthou, Caroline Buors, Eric Lippert, Gaelle Guillerm, Isabelle Quintin-Roué, Jean-Luc Carré, Jean-Christophe Ianotto
Many case reports have indicated the occurrence of monoclonal gammopathy of uncertain significance (MGUS) or multiple myeloma (MM) in patients with Ph-negative myeloproliferative neoplasms (MPN), but few cohorts of patients have been published. This study concerns 667 patients newly diagnosed with polycythemia vera (PV) or essential thrombocythemia (ET) who were tested for monoclonal (M) protein at diagnosis (13.9% of patients). The overall survival of patients with M protein was dramatically lower than that of patients without M protein (12...
May 9, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28479151/laboratory-testing-for-monoclonal-gammopathies-focus-on-monoclonal-gammopathy-of-undetermined-significance-and-smoldering-multiple-myeloma
#14
REVIEW
Maria A V Willrich, David L Murray, Robert A Kyle
Monoclonal gammopathies (MG) are defined by increased proliferation of clonal plasma cells, resulting in a detectable abnormality called monoclonal component or M-protein. Detection of the M-protein as either narrow peaks on protein electrophoresis and discrete bands on immunofixation is the defining feature of MG. MG are classified as low-tumor burden disorders, pre-malignancies and malignancies. Since significant disease can be present at any level, several different tests are employed in order to encompass the inherent diverse nature of the M-proteins...
May 4, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28476134/overexpression-of-rkip-and-its-cross-talk-with-several-regulatory-gene-products-in-multiple-myeloma
#15
REVIEW
Anna Shvartsur, Kevin B Givechian, Hermes Garban, Benjamin Bonavida
Multiple myeloma (MM) is a clonal plasma-cell neoplastic disorder arising from an indolent premalignant disease known as monoclonal gammopathy of undetermined significance (MGUS). MM is a biologically complex heterogeneous disease reflected by its variable clinical responses of patients receiving the same treatment. Therefore, a molecular identification of stage-specific biomarkers will support a more individualized precise diagnostic/prognostic approach, an effective therapeutic regime, and will assist in the identification of novel therapeutic molecular targets...
May 5, 2017: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/28473042/monoclonal-gammopathy-associated-peripheral-neuropathy-diagnosis-and-management
#16
REVIEW
Hafsa M Chaudhry, Michelle L Mauermann, S Vincent Rajkumar
Monoclonal gammopathies comprise a spectrum of clonal plasma cell disorders that include monoclonal gammopathy of undetermined significance, multiple myeloma, and Waldenström macroglobulinemia. In this review, we outline the epidemiology, etiology, classification, diagnosis, and treatment of monoclonal gammopathy-associated peripheral neuropathy. Monoclonal gammopathy of undetermined significance is relatively common in the general population, with a prevalence of 3% to 4% among individuals older than age 50 years...
May 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28472865/electrophysiological-features-of-poems-syndrome-compared-to-mgus-related-neuropathy
#17
Hyunjin Kim, Young-Min Lim, Joo Yea Jin, Dok Hyun Yoon, Cheolwon Suh, Sun-Young Kim, Jae-Cheol Jo, Kwang-Kuk Kim
INTRODUCTION: Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome and monoclonal gammopathy of undetermined significance (MGUS) are paraproteinemic disorders that can cause demyelinating polyneuropathy. Here, we assessed the findings of nerve conduction studies (NCSs) in patients with POEMS syndrome and MGUS-related neuropathy to determine whether the NCS characteristics can help differentiate between the conditions. METHODS: We enrolled 24 POEMS and 37 MGUS-related neuropathy patients...
May 4, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28467313/igg-kappa-monoclonal-gammopathy-of-unknown-significance-with-al-amyloidosis-simulating-giant-cell-arteritis
#18
V M Pompilian, S Tanaseanu, Camelia Badea, Sabina Zurac, C Socoliuc, Sorina Badelita, Elena Botez, Mihaela Antohe
Monoclonal gammopathies complicated by AL amyloidosis can mimic giant cell arteritis (GCA).We hereby present the case of a 63 year old woman in whom symptoms consistent with GCA were the first manifestations of a monoclonal gammopathy of unknown significance (MGUS) associated with amyloidosis. A 63 year old woman was admitted for temporal headache, maseterine claudication, neck and shoulder stiffness. She was recently diagnosed with carpal tunnel syndrome. On physical examination she had prominent temporal arteries, macroglosia and orthostatic hypotension...
May 3, 2017: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/28466550/cutting-edge-genomics-reveal-new-insights-into-tumour-development-disease-progression-and-therapeutic-impacts-in-multiple-myeloma
#19
REVIEW
Ankit K Dutta, Duncan R Hewett, J Lynn Fink, John P Grady, Andrew C W Zannettino
Multiple Myeloma (MM) is a haematological malignancy characterised by the clonal expansion of plasma cells (PCs) within the bone marrow. Despite advances in therapy, MM remains a largely incurable disease with a median survival of 6 years. In almost all cases, the development of MM is preceded by the benign PC condition Monoclonal Gammopathy of Undetermined Significance (MGUS). Recent studies show that the transformation of MGUS to MM is associated with complex genetic changes. Understanding how these changes contribute to evolution will present targets for clinical intervention...
May 3, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28457684/-classification-and-therapeutic-management-of-monoclonal-gammopathies-of-renal-significance
#20
V Javaugue, I Bouteau, C Sirac, N Quellard, J Diolez, A Colombo, E Desport, L Ecotière, J-M Goujon, J-P Fermand, G Touchard, A Jaccard, F Bridoux
Two categories of renal disorders associated with monoclonal gammopathies are to be distinguished, according to the characteristics of the underlying B-cell clone. The first group of renal diseases always occurs in the setting of high tumor mass with production of large amounts of monoclonal immunoglobulins. The main complication is the so-called myeloma cast nephropathy, which almost invariably complicates high tumor mass myeloma. The second group includes all renal disorders caused by a monoclonal immunoglobulin secreted by a nonmalignant B-cell clone, and currently referred as a "monoclonal gammopathy of renal significance (MGRS)"...
April 27, 2017: La Revue de Médecine Interne
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