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Richter's Syndrome

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https://www.readbyqxmd.com/read/29682366/whole-exome-sequencing-and-molecular-modeling-of-a-missense-variant-in-tnfaip3-that-segregates-with-disease-in-a-family-with-chronic-urticaria-and-angioedema
#1
Antoneicka L Harris, Patrick R Blackburn, John E Richter, Jennifer M Gass, Thomas R Caulfield, Ahmed N Mohammad, Paldeep S Atwal
Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic. Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be severe and debilitating. In this report, we describe a 47-year-old Hispanic male who presented initially for an evaluation of chronic hives following hospitalization due to hive-induced anaphylaxis. The individual had a history significant for urticaria and angioedema beginning in his early 30s...
2018: Case Reports in Genetics
https://www.readbyqxmd.com/read/29679775/influence-of-side-effects-on-early-therapy-persistence-with-letrozole-in-post-menopausal-patients-with-early-breast-cancer-results-of-the-prospective-evaluate-tm-study
#2
N Nabieva, T Fehm, L Häberle, J de Waal, M Rezai, B Baier, G Baake, H-C Kolberg, M Guggenberger, M Warm, N Harbeck, R Wuerstlein, J-U Deuker, P Dall, B Richter, G Wachsmann, C Brucker, J W Siebers, M Popovic, T Kuhn, C Wolf, H-W Vollert, G-P Breitbach, W Janni, R Landthaler, A Kohls, D Rezek, T Noesselt, G Fischer, S Henschen, T Praetz, V Heyl, T Kühn, T Krauss, C Thomssen, A Hohn, H Tesch, C Mundhenke, A Hein, C C Hack, K Schmidt, E Belleville, S Y Brucker, S Kümmel, M W Beckmann, D Wallwiener, P Hadji, P A Fasching
BACKGROUND: Endocrine treatment (ET) with an aromatase inhibitor (AI) is the treatment of choice in post-menopausal patients with hormone receptor-positive early breast cancer (EBC). However, adverse events (AEs) often lead to treatment discontinuation. This analysis aimed to identify side-effects that lead to patients failing to persist with letrozole treatment. PATIENTS AND METHODS: Post-menopausal hormone receptor-positive EBC patients starting ET with letrozole were enroled in EvAluate-TM, a non-interventional study...
April 18, 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/29642561/%C3%AE-nicotinamide-adenine-dinucleotide-%C3%AE-nad-inhibits-atp-dependent-il-1%C3%AE-release-from-human-monocytic-cells
#3
Sebastian Daniel Hiller, Sarah Heldmann, Katrin Richter, Innokentij Jurastow, Mira Küllmar, Andreas Hecker, Sigrid Wilker, Gabriele Fuchs-Moll, Ivan Manzini, Günther Schmalzing, Wolfgang Kummer, Winfried Padberg, J Michael McIntosh, Jelena Damm, Anna Zakrzewicz, Veronika Grau
While interleukin-1β (IL-1β) is a potent pro-inflammatory cytokine essential for host defense, high systemic levels cause life-threatening inflammatory syndromes. ATP, a stimulus of IL-1β maturation, is released from damaged cells along with β-nicotinamide adenine dinucleotide (β-NAD). Here, we tested the hypothesis that β-NAD controls ATP-signaling and, hence, IL-1β release. Lipopolysaccharide-primed monocytic U937 cells and primary human mononuclear leukocytes were stimulated with 2'(3')- O -(4-benzoyl-benzoyl)ATP trieethylammonium salt (BzATP), a P2X7 receptor agonist, in the presence or absence of β-NAD...
April 10, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29625968/2018-update-of-the-eular-recommendations-for-the-management-of-beh%C3%A3-et-s-syndrome
#4
Gulen Hatemi, Robin Christensen, Dongsik Bang, Bahram Bodaghi, Aykut Ferhat Celik, Farida Fortune, Julien Gaudric, Ahmet Gul, Ina Kötter, Pietro Leccese, Alfred Mahr, Robert Moots, Yesim Ozguler, Jutta Richter, David Saadoun, Carlo Salvarani, Francesco Scuderi, Petros P Sfikakis, Aksel Siva, Miles Stanford, Ilknur Tugal-Tutkun, Richard West, Sebahattin Yurdakul, Ignazio Olivieri, Hasan Yazici
Several new treatment modalities with different mechanisms of action have been studied in patients with Behçet's syndrome (BS). The aim of the current effort was to update the recommendations in the light of these new data under the auspices of the European League Against Rheumatism (EULAR) Standing Committee for Clinical Affairs. A task force was formed that included BS experts from different specialties including internal medicine, rheumatology, ophthalmology, dermatology, neurology, gastroenterology, oral health medicine and vascular surgery, along with a methodologist, a health professional, two patients and two fellows in charge of the systematic literature search...
April 6, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29568782/proteinuria-hypoalbuminemia-and-chronic-lymphocytic-leukemia-an-unusual-trio
#5
William Wung, Shubha Ananthakrishnan, Brian A Jonas
Chronic lymphocytic leukemia (CLL) is a chronic, progressive lymphoproliferative disorder characterized by a monoclonal population of functionally incompetent lymphocytes. Renal involvement is rare and poorly described. A 57-year-old male with no prior medical history was diagnosed with CLL and followed with a watch and wait approach. He was referred to our institution several months later due to concern for Richter's transformation to diffuse large B-cell lymphoma. A positron emission tomography/computed tomography scan showed no evidence of diffuse large B-cell lymphoma; however, the patient was noted to have hypoalbuminemia, nephrotic range proteinuria, an acute left renal vein thrombus, and a right pulmonary embolus...
January 2018: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/29484684/clinical-pathological-and-biological-characterization-of-richter-syndrome-developing-after-ibrutinib-treatment-for-relapsed-chronic-lymphocytic-leukemia
#6
Idanna Innocenti, Davide Rossi, Giulio Trapè, Francesco Autore, Luigi Maria Larocca, Vincenzo Gomes, Michaela Cerri, Paolo Falcucci, Simona Sica, Gianluca Gaidano, Luca Laurenti
Richter syndrome, a transformation of chronic lymphocytic leukemia (CLL) into a diffuse large B-cell lymphoma, is a rare complication of patients treated with chemo-immunotherapy. Richter syndrome might be both clonally related or unrelated to the underlying CLL and often showed mutations of the TP53 and NOTCH1 genes. Recently, ibrutinib was approved for patients with relapsed/refractory CLL or for untreated CLL patients with del 17p or TP53 mutation. The clinical picture, pathology, and genetics of Richter transformation after IBR treatment are largely unknown...
February 27, 2018: Hematological Oncology
https://www.readbyqxmd.com/read/29417219/robust-identification-of-mosaic-variants-in-congenital-heart-disease
#7
Kathryn B Manheimer, Felix Richter, Lisa J Edelmann, Sunita L D'Souza, Lisong Shi, Yufeng Shen, Jason Homsy, Marko T Boskovski, Angela C Tai, Joshua Gorham, Christopher Yasso, Elizabeth Goldmuntz, Martina Brueckner, Richard P Lifton, Wendy K Chung, Christine E Seidman, J G Seidman, Bruce D Gelb
Mosaicism due to somatic mutations can cause multiple diseases including cancer, developmental and overgrowth syndromes, neurodevelopmental disorders, autoinflammatory diseases, and atrial fibrillation. With the increased use of next generation sequencing technology, multiple tools have been developed to identify low-frequency variants, specifically from matched tumor-normal tissues in cancer studies. To investigate whether mosaic variants are implicated in congenital heart disease (CHD), we developed a pipeline using the cancer somatic variant caller MuTect to identify mosaic variants in whole-exome sequencing (WES) data from a cohort of parent/affected child trios (n = 715) and a cohort of healthy individuals (n = 416)...
February 2018: Human Genetics
https://www.readbyqxmd.com/read/29378952/olt1177-a-%C3%AE-sulfonyl-nitrile-compound-safe-in-humans-inhibits-the-nlrp3-inflammasome-and-reverses-the-metabolic-cost-of-inflammation
#8
Carlo Marchetti, Benjamin Swartzwelter, Fabia Gamboni, Charles P Neff, Katrin Richter, Tania Azam, Sonia Carta, Isak Tengesdal, Travis Nemkov, Angelo D'Alessandro, Curtis Henry, Gerald S Jones, Scott A Goodrich, Joseph P St Laurent, Terry M Jones, Curtis L Scribner, Robert B Barrow, Roy D Altman, Damaris B Skouras, Marco Gattorno, Veronika Grau, Sabina Janciauskiene, Anna Rubartelli, Leo A B Joosten, Charles A Dinarello
Activation of the NLRP3 inflammasome induces maturation of IL-1β and IL-18, both validated targets for treating acute and chronic inflammatory diseases. Here, we demonstrate that OLT1177, an orally active β-sulfonyl nitrile molecule, inhibits activation of the NLRP3 inflammasome. In vitro, nanomolar concentrations of OLT1177 reduced IL-1β and IL-18 release following canonical and noncanonical NLRP3 inflammasome activation. The molecule showed no effect on the NLRC4 and AIM2 inflammasomes, suggesting specificity for NLRP3...
February 13, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29375868/vascular-surgery-of-aortic-thrombosis-in-a-dog-using-fogarty-maneuver-technical-feasibility
#9
Maartje Schwede, Olaf Richter, Michaele Alef, Tobias Theuß, Shenja Loderstedt
Aortic thromboembolism is a rare and life-threatening disease in dogs. This report aims to describe the successful surgical treatment by use of a Fogarty Thrombectomy Catheter in an 8-year-old patient. The postsurgical intensive care therapy to prevent ischemia-reperfusion syndrome is specified, despite poor outcome in our case (owner elected euthanasia).
January 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29363290/brief-report-cancer-immunotherapy-in-patients-with-preexisting-rheumatic-disease-the-mayo-clinic-experience
#10
Michael D Richter, Olga Pinkston, Lisa A Kottschade, Heidi D Finnes, Svetomir N Markovic, Uma Thanarajasingam
OBJECTIVE: To determine the risk of rheumatic disease flare and adverse effects in patients with preexisting rheumatic disease who were receiving immune checkpoint inhibitor (ICI) therapy. METHODS: A retrospective medical record review was performed to identify all patients who received ICI therapy at Mayo Clinic in Rochester, Minnesota between 2011 and 2016 (~700 patients). Those with a preexisting rheumatic disease were identified using specific diagnostic codes...
March 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29299961/erythromelalgia
#11
Peter Franz Klein-Weigel, Theresa Sophie Volz, Jutta Gisela Richter
Erythromelalgia is a rare syndrome characterized by the intermittent or, less commonly, by the permanent occurrence of extremely painful hyperperfused skin areas mainly located in the distal extremities. Primary erythromelalgia is nowadays considered to be a genetically determined neuropathic disorder affecting SCN9A, SCN10A, and SCN11A coding for NaV1.7, NaV1.8, and NaV1.9 neuronal sodium channels. Secondary forms might be associated with myeloproliferative disorders, connective tissue disease, cancer, infections, and poisoning...
February 2018: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/29193006/a-single-institution-retrospective-cohort-study-of-first-line-r-epoch-chemoimmunotherapy-for-richter-syndrome-demonstrating-complex-chronic-lymphocytic-leukaemia-karyotype-as-an-adverse-prognostic-factor
#12
Kerry A Rogers, Ying Huang, Amy S Ruppert, Galena Salem, Deborah M Stephens, Nyla A Heerema, Leslie A Andritsos, Farrukh T Awan, John C Byrd, Joseph M Flynn, Kami J Maddocks, Jeffrey A Jones
Richter Syndrome, an aggressive lymphoma occurring in patients with chronic lymphocytic leukaemia (CLL), has a generally poor prognosis and anthracycline-based chemoimmunotherapy regimens designed to treat de novo diffuse large B-cell lymphoma achieve modest clinical benefit. R-EPOCH (rituximab, etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin) has demonstrated greater activity against aggressive B-cell histologies but has not been studied in Richter Syndrome. We conducted a retrospective cohort study of 46 Richter Syndrome patients treated with first-line R-EPOCH at our institution between 1 January 2006 and 31 May 2014...
January 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29170196/-soccer-ball-cells-to-donut-cells-an-unusual-case-of-richter-syndrome
#13
Beenu Thakral, Sergej Konoplev
No abstract text is available yet for this article.
November 23, 2017: Blood
https://www.readbyqxmd.com/read/29159711/treatment-of-richter-s-syndrome
#14
REVIEW
Adalgisa Condoluci, Davide Rossi
Based on the available literature, mostly derived from retrospective or non-randomized phase I or II studies, it is difficult to define an optimized treatment approach for patients developing Richter's syndrome (RS). Early recognition of chronic lymphocytic leukemia (CLL) patients presenting clinical features suspected for a transformation is useful to avoid exposing them to multiple lines of therapy that, being targeted to CLL progression, have poor efficacy against RS. Because of the low specificity (~ 50-60%) of clinical signs of RS (such as rapid and discordant bulky localized lymphadenopathies, elevated LDH levels, emergent physical deterioration, and/or fever in the absence of infection), a 18 FDG PET/CT and a biopsy are recommended to confirm RS...
November 21, 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/29158289/next-generation-panel-sequencing-identifies-nf1-germline-mutations-in-three-patients-with-pheochromocytoma-but-no-clinical-diagnosis-of-neurofibromatosis-type-1
#15
Laura Gieldon, Jimmy Rusdian Masjkur, Susan Richter, Roland Därr, Marcos Lahera, Daniela Aust, Silke Zeugner, Andreas Rump, Karl Hackmann, Andreas Tzschach, Andrzej Januszewicz, Aleksander Prejbisz, Graeme Eisenhofer, Evelin Schrock, Mercedes Robledo, Barbara Klink
OBJECTIVE: Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next-generation sequencing (NGS) multi-gene panel analysis. Derived from this study, we here present three cases that were diagnosed with NF1 germline mutations but did not have a prior clinical diagnosis of neurofibromatosis type 1 (NF1). DESIGN: We performed genetic analysis of known tumor predisposition genes, including NF1 , using a multi-gene NGS enrichment-based panel applied to a total of 1029 PPGL patients...
February 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29126867/allogeneic-hematopoietic-cell-transplantation-for-richter-syndrome-a-single-center-experience
#16
Mohamed A Kharfan-Dabaja, Ambuj Kumar, Facundo E Stingo, Farhad Khimani, Mohammad Hussaini, Ernesto Ayala, Taiga Nishihori, Bijal Shah, Frederick L Locke, Javier Pinilla-Ibarz, Julio C Chavez
BACKGROUND: Recent studies have shown dismal outcomes when chronic lymphocytic leukemia progresses to Richter syndrome after patients receive ibrutinib, with a median overall survival ranging from 2.6 to 3.5 months. Published data on efficacy of allogeneic hematopoietic cell transplantation in Richter syndrome are limited to single-center case series and registry data. PATIENTS AND METHODS: We evaluated the efficacy of allogeneic transplantation in 10 patients, median age of 63 (range, 50-74) years, allografted at a median of 5 (range, 4-25) months from diagnosis of Richter syndrome...
January 2018: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29122775/classical-hodgkin-lymphoma-arising-in-a-patient-with-chronic-lymphocytic-leukemia-richter-syndrome
#17
Andrés E Quesada, Sergej Konoplev
No abstract text is available yet for this article.
November 9, 2017: Blood
https://www.readbyqxmd.com/read/29121350/individualized-fsh-dosing-based-on-ovarian-reserve-testing-in-women-starting-ivf-icsi-a-multicentre-trial-and-cost-effectiveness-analysis
#18
Theodora C van Tilborg, Simone C Oudshoorn, Marinus J C Eijkemans, Monique H Mochtar, Ron J T van Golde, Annemieke Hoek, Walter K H Kuchenbecker, Kathrin Fleischer, Jan Peter de Bruin, Henk Groen, Madelon van Wely, Cornelis B Lambalk, Joop S E Laven, Ben Willem J Mol, Frank J M Broekmans, Helen L Torrance
STUDY QUESTION: Is there a difference in live birth rate and/or cost-effectiveness between antral follicle count (AFC)-based individualized FSH dosing or standard FSH dosing in women starting IVF or ICSI treatment? SUMMARY ANSWER: In women initiating IVF/ICSI, AFC-based individualized FSH dosing does not improve live birth rates or reduce costs as compared to a standard FSH dose. WHAT IS KNOWN ALREADY: In IVF or ICSI, ovarian reserve testing is often used to adjust the FSH dose in order to normalize ovarian response and optimize live birth rates...
December 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29121269/individualized-versus-standard-fsh-dosing-in-women-starting-ivf-icsi-an-rct-part-2-the-predicted-hyper-responder
#19
Simone C Oudshoorn, Theodora C van Tilborg, Marinus J C Eijkemans, G Jur E Oosterhuis, Jaap Friederich, Marcel H A van Hooff, Evert J P van Santbrink, Egbert A Brinkhuis, Jesper M J Smeenk, Janet Kwee, Corry H de Koning, Henk Groen, Cornelis B Lambalk, Ben Willem J Mol, Frank J M Broekmans, Helen L Torrance
STUDY QUESTION: Does a reduced FSH dose in women with a predicted hyper response, apparent from a high antral follicle count (AFC), who are scheduled for IVF/ICSI lead to a different outcome with respect to cumulative live birth rate and safety? SUMMARY ANSWER: Although in women with a predicted hyper response (AFC > 15) undergoing IVF/ICSI a reduced FSH dose (100 IU per day) results in similar cumulative live birth rates and a lower occurrence of any grade of ovarian hyperstimulation syndrome (OHSS) as compared to a standard dose (150 IU/day), a higher first cycle cancellation rate and similar severe OHSS rate were observed...
December 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29105244/spinal-cord-stimulation-for-treating-chronic-pain-reviewing-preclinical-and-clinical-data-on-paresthesia-free-high-frequency-therapy
#20
REVIEW
Krishnan Chakravarthy, Hira Richter, Paul J Christo, Kayode Williams, Yun Guan
BACKGROUND: Traditional spinal cord stimulation (SCS) requires that paresthesia overlaps chronic painful areas. However, the new paradigm high-frequency SCS (HF-SCS) does not rely on paresthesia. STUDY DESIGN: A review of preclinical and clinical studies regarding the use of paresthesia-free HF-SCS for various chronic pain states. METHODS: We reviewed available literatures on HF-SCS, including Nevro's paresthesia-free ultra high-frequency 10 kHz therapy (HF10-SCS)...
January 2018: Neuromodulation: Journal of the International Neuromodulation Society
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