Read by QxMD icon Read

Richter's Syndrome

Davide Rossi
Richter's syndrome (RS) is the development of an aggressive lymphoma in patients with a previous or concomitant diagnosis of chronic lymphocytic leukemia (CLL). The incidence rate for RS is ∼0.5% per year of observation. In the presence of clinical suspicious of RS, diagnosis of transformation and choice of the site of biopsy may take advantage of (18)FDG PET/CT. Molecular lesions of tumor suppression regulators (TP53), cell cycle (CDKN2A) and cell proliferation (NOTCH1, MYC) overall account for ∼90% of RS and may be responsible for its aggressive clinical phenotype...
March 2016: Best Practice & Research. Clinical Haematology
Mark F Reinking, Tricia M Austin, Randy R Richter, Mary M Krieger
CONTEXT: Medial tibial stress syndrome (MTSS) is a common condition in active individuals and presents as diffuse pain along the posteromedial border of the tibia. OBJECTIVE: To use cross-sectional, case-control, and cohort studies to identify significant MTSS risk factors. DATA SOURCES: Bibliographic databases (PubMed, Scopus, CINAHL, SPORTDiscus, EMBASE, EBM Reviews, PEDRo), grey literature, electronic search of full text of journals, manual review of reference lists, and automatically executed PubMed MTSS searches were utilized...
October 11, 2016: Sports Health
M Teresa de la Morena, David Leonard, Troy R Torgerson, Otavio Cabral-Marques, Mary Slatter, Asghar Aghamohammadi, Sharat Chandra, Luis Murguia-Favela, Francisco Bonilla, Maria Kanariou, Rongras Damrongwatanasuk, Caroline Y Kuo, Christopher C Dvorak, Isabelle Meyts, Karin Chen, Lisa Kobrynski, Neena Kapoor, Darko Richter, Daniela DiGiovanni, Fatima Dhalla, Evangelia Farmaki, Carsten Speckmann, Teresa Espanol, Anna Shcherbina, Celine Hanson, Jiri Litzman, John Routes, Melanie Wong, Ramsay Fuleihan, Suranjith L Seneviratne, Trudy N Small, Ales Janda, Liliana Bezrodnik, Reinhard Seger, Andrea Gomez Raccio, J David M Edgar, Janet Chou, Jordan K Abbott, Joris van Montfrans, Luis Ignacio Gonzalez-Granado, Nancy Bunin, Necil Kutukculer, Paul Gray, Gisela Seminario, Srdjan Pasic, Victor Aquino, Christian Wysocki, Hassan Abolhassani, Eyal Grunebaum, Morna Dorsey, Beatriz Tavares Costa Carvalho, Antonio Condino-Neto, Charlotte Cunningham-Rundles, Alan P Knutsen, John Sleasman, Helen Chapel, Hans D Ochs, Alexandra Filipovich, Mort Cowan, Andrew Gennery, Andrew Cant, Luigi D Notarangelo, Chaim Roifman
BACKGROUND: X-linked hyper IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared to normal individuals. Hematopoietic cell transplant (HCT) has been considered a curative therapy, but the procedure has inherent complications, and may not be available for all patients. OBJECTIVES: We sought to collect data on the clinical presentation, treatment, and follow-up of a large sample of patients with XHIGM in order to (1) compare long-term overall survival and general well-being of patients treated with or without HCT along with clinical factors associated with mortality, and (2) summarize clinical practice and risk factors in the subgroup of patients treated with HCT...
September 30, 2016: Journal of Allergy and Clinical Immunology
Stefan O Reber, Dominik Langgartner, Sandra Foertsch, Teodor T Postolache, Lisa A Brenner, Harald Guendel, Christopher A Lowry
There is considerable individual variability in vulnerability for developing posttraumatic stress disorder (PTSD); evidence suggests that this variability is related in part to genetic and environmental factors, including adverse early life experience. Interestingly, recent studies indicate that induction of chronic low-grade inflammation may be a common mechanism underlying gene and environment interactions that increase the risk for development of PTSD symptoms, and, therefore, may be a target for novel interventions for prevention or treatment of PTSD...
September 9, 2016: Psychoneuroendocrinology
Susan O'Brien, Jeffrey A Jones, Steven E Coutre, Anthony R Mato, Peter Hillmen, Constantine Tam, Anders Österborg, Tanya Siddiqi, Michael J Thirman, Richard R Furman, Osman Ilhan, Michael J Keating, Timothy G Call, Jennifer R Brown, Michelle Stevens-Brogan, Yunfeng Li, Fong Clow, Danelle F James, Alvina D Chu, Michael Hallek, Stephan Stilgenbauer
BACKGROUND: The TP53 gene, encoding tumour suppressor protein p53, is located on the short arm of chromosome 17 (17p). Patients with 17p deletion (del17p) chronic lymphocytic leukaemia have poor responses and survival after chemoimmunotherapy. We assessed the activity and safety of ibrutinib, an oral covalent inhibitor of Bruton's tyrosine kinase, in relapsed or refractory patients with del17p chronic lymphocytic leukaemia or small lymphocytic lymphoma. METHODS: We did a multicentre, international, open-label, single-arm study at 40 sites in the USA, Canada, Europe, Australia, and New Zealand...
October 2016: Lancet Oncology
Artur César, Ana Calistru, Joana Pardal, Sofia Magina, Alberto Mota, Filomena Azevedo
Richter syndrome (RS) is characterized by the development of a high-grade lymphoma in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Herein, we present the case of an 85-year-old woman with a 3-year history of stable asymptomatic CLL that developed a cutaneous RS. The patient presented with painless inflammation in the left leg and foot that was initially diagnosed as a cellulitis infection. She was treated accordingly with ceftriaxone and clindamycin. However, after completing the antibiotic regimen, not only did the inflammation persist, but also superimposed painless nodules gradually appeared on the left leg and foot over the course of four months...
2016: Dermatology Online Journal
Maël Bessaud, Serge A Sadeuh-Mba, Marie-Line Joffret, Richter Razafindratsimandresy, Patsy Polston, Romain Volle, Mala Rakoto-Andrianarivelo, Bruno Blondel, Richard Njouom, Francis Delpeyroux
Enteroviruses are among the most common viruses infecting humans and can cause diverse clinical syndromes ranging from minor febrile illness to severe and potentially fatal diseases. Enterovirus species C (EV-C) consists of more than 20 types, among which the three serotypes of polioviruses, the etiological agents of poliomyelitis, are included. Biodiversity and evolution of EV-C genomes are shaped by frequent recombination events. Therefore, identification and characterization of circulating EV-C strains require the sequencing of different genomic regions...
2016: Frontiers in Microbiology
Noa Biran, Scott D Rowley, David H Vesole, Shijia Zhang, Michele L Donato, Joshua Richter, Alan P Skarbnik, Andrew Pecora, David S Siegel
Escalating doses of bortezomib with high-dose melphalan was evaluated as as a conditioning regimen for autologous stem cell transplantation (ASCT) in patients with relapsed or refractory multiple myeloma (MM). MM patients with less than a partial remission (PR) (or 50% reduction) compared to their pretransplantation paraprotein parameters after a prior ASCT with melphalan conditioning, or who were in relapse after a prior autologous transplantation, were eligible for study. Bortezomib was dose escalated in steps of 1, 1...
August 31, 2016: Biology of Blood and Marrow Transplantation
Wolf-Georg Forssmann, Hanns-Christian Tillmann, Dieter Hock, Kristin Forssmann, Corrado Bernasconi, Ulf Forssmann, Rudolf Richter, Berthold Hocher, Andreas Pfützner
BACKGROUND/AIMS: Parathyroid hormone (PTH) derivatives exert pronounced renal and osteoanabolic properties when given intermittently. The current study was performed to assess the pharmacokinetic and pharmacodynamic properties as well as safety of subcutaneously applied PTH-1-37 after repeated dosing in healthy subjects. METHODS: This randomized, double-blind, dose-escalating, placebo and active comparator controlled study was conducted in 33 healthy postmenopausal women...
August 4, 2016: Kidney & Blood Pressure Research
G Andrikopoulos, D Terentes-Printzios, S Tzeis, C Vlachopoulos, C Varounis, N Nikas, J Lekakis, D Stakos, S Lymperi, D Symeonidis, D Chrissos, C Kyrpizidis, D Alexopoulos, S Zombolos, S Foussas, Α Κranidis, Κ Oikonomou, V Vasilikos, P Andronikos, Α Dermitzakis, D Richter, N Fragakis, I Styliadis, S Mavridis, C Stefanadis, P Vardas
INTRODUCTION: In view of recent therapeutic breakthroughs in acute coronary syndromes (ACS) and essential demographic and socioeconomic changes in Greece, we conducted the prospective, multi-center, nationwide PHAETHON study (An Epidemiological Cohort Study of Acute Coronary Syndromes in the Greek Population) that aimed to recruit a representative cohort of ACS patients and examine current management practices and patient prognosis. METHODS: The PHAETHON study was conducted from May 2012 to February 2014...
May 2016: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
Rose Lou Marie C Agbay, Nitin Jain, Sanam Loghavi, L Jeffrey Medeiros, Joseph D Khoury
Although generally considered a clinically indolent neoplasm, CLL/SLL may undergo transformation to a clinically aggressive lymphoma. The most common form of transformation, to DLBCL, is also known as Richter syndrome. Transformation determines the course of the disease and is associated with unfavorable patient outcome. Precise detection of transformation and identification of predictive biomarkers and specific molecular pathways implicated in the pathobiology of transformation in CLL/SLL will enable personalized therapeutic approach and provide potential avenues for improving the clinical outcome of patients...
October 2016: American Journal of Hematology
Pavel Klener, Eva Fronkova, Adela Berkova, Radek Jaksa, Halka Lhotska, Kristina Forsterova, Jan Soukup, Vojtech Kulvait, Jarmila Vargova, Karel Fiser, Dana Prukova, Mahmudul Alam, Bokang Calvin Lenyeletse Maswabi, Kyra Michalova, Zuzana Zemanova, Tereza Jancuskova, Sona Pekova, Marek Trneny
Richter syndrome represents the transformation of the chronic lymphocytic leukemia (CLL) into an aggressive lymphoma, most frequently the diffuse large B-cell lymphoma (DLBCL). In this report we describe a patient with CLL, who developed a clonally-related pleomorphic highly-aggressive mantle cell lymphoma (MCL) after five cycles of a fludarabine-based second-line therapy for the first relapse of CLL. Molecular cytogenetic methods together with whole-exome sequencing revealed numerous gene alterations restricted to the MCL clone (apart from the canonical t(11;14)(q13;q32) translocation) including gain of one copy of ATM gene or emergence of TP53, CREBBP, NUP214, FUBP1 and SF3B1 gene mutations...
November 15, 2016: International Journal of Cancer. Journal International du Cancer
Gianluigi Reda, Ramona Cassin, Sonia Fabris, Gabriella Ciceri, Bruno Fattizzo, Mariarita Sciumè, Nicola Orofino, Umberto Gianelli, Antonino Neri, Agostino Cortelezzi
Richter syndrome (RS) is the transformation of chronic lymphocytic leukemia in a high-grade lymphoma usually presenting nodal and bone marrow involvement. Richter syndrome can be localized at extranodal sites including the gastrointestinal tract, lungs, and skin. Cutaneous RS is an extremely rare disease apparently showing a less aggressive course than common presentations. While nodal RS has been extensively investigated in literature, pathogenesis and prognosis of cutaneous RS are still partially unknown, even if a role of Epstein-Barr virus infection and p53 disruption has been suggested...
July 12, 2016: Hematological Oncology
Toby A Eyre, Ruth Clifford, Adrian Bloor, Lucy Boyle, Corran Roberts, Maite Cabes, Graham P Collins, Stephen Devereux, George Follows, Christopher P Fox, John Gribben, Peter Hillmen, Chris S Hatton, Tim J Littlewood, Helen McCarthy, Jim Murray, Andrew R Pettitt, Elizabeth Soilleux, Basile Stamatopoulos, Sharon B Love, Andrew Wotherspoon, Anna Schuh
Richter syndrome (RS) is associated with chemotherapy resistance and a poor historical median overall survival (OS) of 8-10 months. We conducted a phase II trial of standard CHOP-21 (cyclophosphamide, doxorubicin, vincristine, prednisolone every 21 d) with ofatumumab induction (Cycle 1: 300 mg day 1, 1000 mg day 8, 1000 mg day 15; Cycles 2-6: 1000 mg day 1) (CHOP-O) followed by 12 months ofatumumab maintenance (1000 mg given 8-weekly for up to six cycles). Forty-three patients were recruited of whom 37 were evaluable...
October 2016: British Journal of Haematology
Jessica El-Asmar, Mohamed A Kharfan-Dabaja
Treatment combining chemotherapy with immunotherapy as well as novel targeted therapies have shown limited efficacy in Richter's syndrome. Overall response rates following chemoimmunotherapy range from 43% to 67% but remissions are generally short-lived. In CLL, allogeneic hematopoietic cell transplantation is considered a potentially curative treatment modality yielding 3-year overall survival rates exceeding 50% and a plateau in survival curves. In Richter's syndrome, efficacy of allogeneic hematopoietic cell transplantation is dependent on demonstrating an objective response (CR or PR) before allografting, with resulting 3-year survival rates of 41-75%...
June 29, 2016: Biology of Blood and Marrow Transplantation
Elizabeth J Soilleux, Andrew Wotherspoon, Toby A Eyre, Ruth Clifford, Maite Cabes, Anna H Schuh
AIMS: Richter's syndrome refers to high grade transformation of B-cell chronic lymphocytic leukaemia (CLL), usually to diffuse large B-cell lymphoma (DLBCL), as assessed by strict World Health Organisation (WHO)-defined histological criteria. Although a relatively evidence-poor area, the recommended clinical management of high grade transformation differs considerably from relapsed CLL. The 'CHOP-OR' trial was a single arm, multi-centre, non-randomised phase II NCRI trial in patients with newly diagnosed Richter's syndrome, recruiting from across the UK from April 2011 to December 2014...
June 27, 2016: Histopathology
Frank E Chang, Stephanie A Beall, Jeris M Cox, Kevin S Richter, Alan H DeCherney, Michael J Levy
OBJECTIVE: To compare outcomes of in vitro fertilization (IVF) cycles with adequate versus inadequate response to the gonadotropin-releasing hormone (GnRH) agonist trigger rescued with the use of human chorionic gonadotropin (hCG) retrigger, and to identify risk factors associated with an inadequate trigger. DESIGN: Retrospective cohort study. SETTING: Private practice. PATIENT(S): Women at high risk for ovarian hyperstimulation syndrome who underwent an autologous IVF cycle and used GnRH agonist to trigger oocyte maturation before oocyte retrieval...
October 2016: Fertility and Sterility
Kah-Lok Chan, Julie Lokan, Constantine S Tam, Thomas Eliot Lew, H Miles Prince
No abstract text is available yet for this article.
June 21, 2016: Leukemia & Lymphoma
Susanne Bens, Julia Kolarova, Jasmin Beygo, Karin Buiting, Almuth Caliebe, Thomas Eggermann, Gabriele Gillessen-Kaesbach, Dirk Prawitt, Susanne Thiele-Schmitz, Matthias Begemann, Thorsten Enklaar, Jana Gutwein, Andrea Haake, Ulrike Paul, Julia Richter, Lukas Soellner, Inga Vater, David Monk, Bernhard Horsthemke, Ole Ammerpohl, Reiner Siebert
AIM: To characterize the genotypic and phenotypic extent of multilocus imprinting disturbances (MLID). MATERIALS & METHODS: We analyzed 37 patients with imprinting disorders (explorative cohort) for DNA methylation changes using the Infinium HumanMethylation450 BeadChip. For validation, three independent cohorts with imprinting disorders or cardinal features thereof were analyzed (84 patients with imprinting disorders, 52 with growth disorder, 81 with developmental delay)...
June 2016: Epigenomics
Tarja Linnankivi, Nirajan Neupane, Uwe Richter, Pirjo Isohanni, Henna Tyynismaa
Mitochondrial aminoacyl-tRNA synthetases are an important group of disease genes typically underlying either a disorder affecting an isolated tissue or a distinct syndrome. Missense mutations in the mitochondrial seryl-tRNA synthetase gene, SARS2, have been identified in HUPRA syndrome (hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis). We report here a homozygous splicing mutation in SARS2 in a patient with progressive spastic paresis. We show that the mutation leads to diminished levels of the synthetase in patient's fibroblasts...
September 2016: Human Mutation
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"