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Richter's Syndrome

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https://www.readbyqxmd.com/read/29417219/robust-identification-of-mosaic-variants-in-congenital-heart-disease
#1
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 7, 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
#2
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...
January 29, 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
#3
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/cancer-immunotherapy-in-patients-with-preexisting-rheumatologic-disease-the-mayo-clinic-experience
#4
Michael D Richter, Olga Pinkston, Lisa A Kottschade, Heidi D Finnes, Svetomir N Markovic, Uma Thanarajasingam
OBJECTIVES: To determine the risk of rheumatologic disease flare and adverse effects in patients with preexisting rheumatologic disease receiving checkpoint inhibitor therapy. METHODS: A retrospective medical record review was performed to identify all patients who received checkpoint inhibitor therapy at Mayo Clinic, Rochester between 2011 and 2016 (approximately 5,200 patients). Those with preexisting rheumatologic disease were identified using specific diagnostic codes...
January 24, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29299961/erythromelalgia
#5
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...
January 4, 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
#6
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
#7
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
#8
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 18FDG 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
#9
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
#10
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
#11
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
#12
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...
November 7, 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
#13
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...
November 7, 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
#14
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)...
November 3, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/29046733/mosaic-genome-wide-maternal-isodiploidy-an-extreme-form-of-imprinting-disorder-presenting-as-prenatal-diagnostic-challenge
#15
Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F Barth, Reiner Siebert
BACKGROUND: Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible with life, with the exception of very rare cases of patients with mosaic genome-wide uniparental disomy reported in the literature. RESULTS: We here report on a fetus with intrauterine growth retardation and malformations observed on prenatal ultrasound leading to invasive prenatal testing...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/29026866/a-prospective-observational-study-of-the-epidemiology-management-and-outcomes-of-skin-and-soft-tissue-infections-due-to-carbapenem-resistant-enterobacteriaceae
#16
Oryan Henig, Eric Cober, Sandra S Richter, Federico Perez, Robert A Salata, Robert C Kalayjian, Richard R Watkins, Steve Marshall, Susan D Rudin, T Nicholas Domitrovic, Andrea M Hujer, Kristine M Hujer, Yohei Doi, Scott Evans, Vance G Fowler, Robert A Bonomo, David van Duin, Keith S Kaye
BACKGROUND: This study was performed to characterize the epidemiology, management, and outcomes of skin and soft tissue infection (SSTI) and colonization due to carbapenem-resistant Enterobacteriaceae (CRE). METHODS: Patients from the Consortium on Resistance Against Carbapenem in Klebsiella and Other Enterobacteriaceae (CRACKLE-1) from December 24, 2011 to October 1, 2014 with wound cultures positive for CRE were included in the study. Predictors of surgical intervention were analyzed...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28994094/novel-prognostic-molecular-factors-a-quantum-leap-in-the-field-of-chronic-lymphocytic-leukemia
#17
Ewelina Zakrzewska, Marta Pirog, Joanna Purkot, Krzysztof Giannopoulos
Cytogenetic lesions do not completely explain clinical heterogeneity of chronic lymphocytic leukemia (CLL). The 2016 revision of the World Health Organization classification 2008 introduced that molecular lesions of TP53, NOTCH1, SF3B1 and BIRC3 have potential clinical relevance and could be integrated into an updated risk profile. The negative clinical implications of TP53 disruptions are well constituted and patients with these mutations should be considered for novel, small molecule signal transduction inhibitors therapies...
October 10, 2017: Folia Histochemica et Cytobiologica
https://www.readbyqxmd.com/read/28989059/clinical-practice-update-the-use-of-per-oral-endoscopic-myotomy-in-achalasia-expert-review-and-best-practice-advice%C3%A2-from-the-aga-institute
#18
REVIEW
Peter J Kahrilas, David Katzka, Joel E Richter
The purpose of this review is to describe a place for per-oral endoscopic myotomy (POEM) among the currently available robust treatments for achalasia. The recommendations outlined in this review are based on expert opinion and on relevant publications from PubMed and EMbase. The Clinical Practice Updates Committee of the American Gastroenterological Association proposes the following recommendations: 1) in determining the need for achalasia therapy, patient-specific parameters (Chicago Classification subtype, comorbidities, early vs late disease, primary or secondary causes) should be considered along with published efficacy data; 2) given the complexity of this procedure, POEM should be performed by experienced physicians in high-volume centers because an estimated 20-40 procedures are needed to achieve competence; 3) if the expertise is available, POEM should be considered as primary therapy for type III achalasia; 4) if the expertise is available, POEM should be considered as treatment option comparable with laparoscopic Heller myotomy for any of the achalasia syndromes; and 5) post-POEM patients should be considered high risk to develop reflux esophagitis and advised of the management considerations (potential indefinite proton pump inhibitor therapy and/or surveillance endoscopy) of this before undergoing the procedure...
November 2017: Gastroenterology
https://www.readbyqxmd.com/read/28975027/second-lung-malignancy-and-richter-syndrome-in-chronic-lymphocytic-leukemia-case-report-and-literature-review
#19
Ghassen Soussi, Selsabil Daboussi, Samira Mhamdi, Zied Moatemri, Hela Ghedira, Chiraz Aichaouia, Mohsen Khadhraoui, Faouzi El Mezni, Rezaik Cheikh
BACKGROUND: Chronic lymphocytic leukemia (CLL) is the most frequent lymphoproliferative disease. Transformation into Richter disease and occurrence of second malignancies involving the lungs are rare complications. The hallmarks of any thoracic involvement are still unknown. CASE PRESENTATION: We report a case of a 56-year-old male patient, with history of tobacco smoking, who presented with recurrent hemoptysis, fatigue and weight loss. Physical examination was normal except a slightly enlarged supraclavicular lymph node...
2017: Multidisciplinary Respiratory Medicine
https://www.readbyqxmd.com/read/28970470/nfat2-is-a-critical-regulator-of-the-anergic-phenotype-in-chronic-lymphocytic-leukaemia
#20
Melanie Märklin, Jonas S Heitmann, Alexander R Fuchs, Felicia M Truckenmüller, Michael Gutknecht, Stefanie Bugl, Sebastian J Saur, Juliane Lazarus, Ursula Kohlhofer, Leticia Quintanilla-Martinez, Hans-Georg Rammensee, Helmut R Salih, Hans-Georg Kopp, Michael Haap, Andreas Kirschniak, Lothar Kanz, Anjana Rao, Stefan Wirths, Martin R Müller
Chronic lymphocytic leukaemia (CLL) is a clonal disorder of mature B cells. Most patients are characterised by an indolent disease course and an anergic phenotype of their leukaemia cells, which refers to a state of unresponsiveness to B cell receptor stimulation. Up to 10% of CLL patients transform from an indolent subtype to an aggressive form of B cell lymphoma over time (Richter´s syndrome) and show a significantly worse treatment outcome. Here we show that B cell-specific ablation of Nfat2 leads to the loss of the anergic phenotype culminating in a significantly compromised life expectancy and transformation to aggressive disease...
October 2, 2017: Nature Communications
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