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Richter's Syndrome

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https://www.readbyqxmd.com/read/28645153/defective-mitochondrial-rna-processing-due-to-pnpt1-variants-causes-leigh-syndrome
#1
Sanna Matilainen, Christopher J Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu Suomalainen
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, and identified novel compound heterozygous variants in PNPT1, encoding the polynucleotide phosphorylase (PNPase). Expression of the wild type PNPT1 in the subject's myoblasts functionally complemented the defects, and the pathogenicity was further supported by structural predictions and protein and RNA analyses...
June 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28549767/treatment-of-del17p-and-or-aberrant-tp53-chronic-lymphocytic-leukemia-in-the-era-of-novel-therapies
#2
REVIEW
Hind Rafei, Mohamed A Kharfan-Dabaja
More effective therapies are emerging, with better toxicity profiles, and are being incorporated into modern treatment algorithms of chronic lymphocytic leukemia at various stages of the disease, including for patients harboring Del17p and/or aberrant TP53. Ibrutinib, an inhibitor of Bruton's tyrosine kinase, has demonstrated impressive response rates in the relapsed/refractory setting, including in the setting of Del17p and/or TP53 mutations. Venetoclax, an inhibitor of BCL-2 known to play an important role in regulating cell death, has been approved recently for treatment of patients with chronic lymphocytic leukemia with Del17p who have received at least one prior therapy...
May 19, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28545597/prefrontal-cortical-thinning-links-to-negative-symptoms-in-schizophrenia-via-the-enigma-consortium
#3
E Walton, D P Hibar, T G M van Erp, S G Potkin, R Roiz-Santiañez, B Crespo-Facorro, P Suarez-Pinilla, N E M van Haren, S M C de Zwarte, R S Kahn, W Cahn, N T Doan, K N Jørgensen, T P Gurholt, I Agartz, O A Andreassen, L T Westlye, I Melle, A O Berg, L Morch-Johnsen, A Færden, L Flyckt, H Fatouros-Bergman, E G Jönsson, R Hashimoto, H Yamamori, M Fukunaga, N Jahanshad, P De Rossi, F Piras, N Banaj, G Spalletta, R E Gur, R C Gur, D H Wolf, T D Satterthwaite, L M Beard, I E Sommer, S Koops, O Gruber, A Richter, B Krämer, S Kelly, G Donohoe, C McDonald, D M Cannon, A Corvin, M Gill, A Di Giorgio, A Bertolino, S Lawrie, T Nickson, H C Whalley, E Neilson, V D Calhoun, P M Thompson, J A Turner, S Ehrlich
BACKGROUND: Our understanding of the complex relationship between schizophrenia symptomatology and etiological factors can be improved by studying brain-based correlates of schizophrenia. Research showed that impairments in value processing and executive functioning, which have been associated with prefrontal brain areas [particularly the medial orbitofrontal cortex (MOFC)], are linked to negative symptoms. Here we tested the hypothesis that MOFC thickness is associated with negative symptom severity...
May 26, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28521870/the-use-of-statins-alone-or-in-combination-with-pioglitazone-and-other-drugs-for-the-treatment-of-non-alcoholic-fatty-liver-disease-non-alcoholic-steatohepatitis-and-related-cardiovascular-risk-an-expert-panel-statement
#4
REVIEW
Vasilios G Athyros, Theodore K Alexandrides, Helen Bilianou, Evangelos Cholongitas, Michael Doumas, Emmanuel S Ganotakis, John Goudevenos, Moses S Elisaf, Georgios Germanidis, Olga Giouleme, Asterios Karagiannis, Charalambos Karvounis, Niki Katsiki, Vasilios Kotsis, Jannis Kountouras, Evangelos Liberopoulos, Christos Pitsavos, Stergios Polyzos, Loukianos S Rallidis, Dimitrios Richter, Apostolos G Tsapas, Alexandros D Tselepis, Konstantinos Tsioufis, Konstantinos Tziomalos, Themistoklis Tzotzas, Themistoklis G Vasiliadis, Charalambos Vlachopoulos, Dimitri P Mikhailidis, Christos Mantzoros
Non-alcoholic fatty liver disease (NAFLD), the most common liver disease, is characterized by accumulation of fat (>5% of the liver tissue), in the absence of alcohol abuse or other chronic liver diseases. It is closely related to the epidemic of obesity, metabolic syndrome or type 2 diabetes mellitus (T2DM). NAFLD can cause liver inflammation and progress to non-alcoholic steatohepatitis (NASH), fibrosis, cirrhosis or hepatocellular cancer (HCC). Nevertheless, cardiovascular disease (CVD) is the most common cause of death in NAFLD/NASH patients...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28493229/-general-treatment-principles-coordination-of-care-and-patient-education-in-fibromyalgia-syndrome-updated-guidelines-2017-and-overview-of-systematic-review-articles
#5
F Petzke, W Brückle, U Eidmann, P Heldmann, V Köllner, T Kühn, H Kühn-Becker, M Strunk-Richter, M Schiltenwolf, M Settan, M von Wachter, M Weigl, W Häuser
BACKGROUND: The regular update of the guidelines on fibromyalgia syndrome, AWMF number 145/004, was scheduled for April 2017. METHODS: The guidelines were developed by 13 scientific societies and 2 patient self-help organizations coordinated by the German Pain Society. Working groups (n =8) with a total of 42 members were formed balanced with respect to gender, medical expertise, position in the medical or scientific hierarchy and potential conflicts of interest...
May 10, 2017: Der Schmerz
https://www.readbyqxmd.com/read/28484852/-long-term-prognosis-of-peters-anomaly
#6
S Reichl, D Böhringer, O Richter, W Lagrèze, T Reinhard
BACKGROUND: Peters anomaly normally presents in early childhood. Common features are central corneal opacities and dysgeneses of the anterior eye segment. Early surgery is commonly warranted to prevent deep amblyopia or because of severe glaucoma. We herein present the clinical outcomes of all patients treated in the Eye Center of the Albert Ludwigs University of Freiburg since 2005. Emphasis is placed on the Peters subtype. METHODS: Data were collected retrospectively by means of chart review...
May 8, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28439883/an-update-for-richter-syndrome-new-directions-and-developments
#7
REVIEW
Toby A Eyre, Anna Schuh
High-grade transformation of chronic lymphocytic leukaemia [Richter syndrome (RS)] is rare and represents a unique and uncommon clinical challenge. Clonally related diffuse large B cell type RS is a chemotherapy-resistant and devastating disease. Patients are typically elderly, immunosuppressed and present with a rapidly deteriorating performance status. Historical outcomes suggest a median overall survival of approximately 8 months. RS remains is an area of high unmet clinical need. The molecular profile and treatment needs of patients are likely to change over time with the advent of novel B cell receptor inhibitors, monoclonal antibodies and BH3 mimetics...
April 25, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28438345/richter-syndrome-with-extensive-isolated-pleural-extranodal-involvement-the-importance-of-pet-ct-imaging
#8
Luis Gorospe Sarasúa, Ana Jaureguízar-Oriol, Carlos Almonacid-Sánchez, María Eugenia Rioja-Martín
No abstract text is available yet for this article.
April 21, 2017: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/28433046/-the-risks-of-retroperitoneoscopic-adrenalectomy
#9
P Zonča, M Peteja, P Vávra, V Richter, P Ostruszka
INTRODUCTION: Minimally invasive adrenalectomy has become the gold standard for surgery of the suprarenal gland. Retroperitoneoscopic adrenalectomy with dorsal approach is preferred. The aim of our case report is to discuss potential complications that may arise from retroperitoneoscopic adrenalectomy, specifically an intra-operative injury of the inferior vena cava. CASE REPORT: A 47-year-old male patient was admitted to undergo elective adrenalectomy on the right side...
2017: Rozhledy V Chirurgii: Měsíčník Československé Chirurgické Společnosti
https://www.readbyqxmd.com/read/28404637/surfactant-inhibits-atp-induced-release-of-interleukin-1%C3%AE-via-nicotinic-acetylcholine-receptors
#10
Sören Backhaus, Anna Zakrzewicz, Katrin Richter, Jelena Damm, Sigrid Wilker, Gabriele Fuchs-Moll, Mira Küllmar, Andreas Hecker, Ivan Manzini, Clemens Ruppert, J Michael McIntosh, Winfried Padberg, Veronika Grau
Interleukin (IL)-1β is a potent pro-inflammatory cytokine of innate immunity involved in host defense. High systemic IL-1β levels, however, cause life-threatening inflammatory diseases, including systemic inflammatory response syndrome. In response to various danger signals, the pro-form of IL-1β is synthesized and stays in the cytoplasm unless a second signal, such as extracellular ATP, activates the inflammasome, which enables processing and release of mature IL-1β. As pulmonary surfactant is known for its anti-inflammatory properties, we hypothesize that surfactant inhibits ATP-induced release of IL-1β...
June 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28363626/validating-signs-and-symptoms-from-an-actual-mass-casualty-incident-to-characterize-an-irritant-gas-syndrome-agent-igsa-exposure-a-first-step-in-the-development-of-a-novel-igsa-triage-algorithm
#11
Joan M Culley, Jane Richter, Sara Donevant, Abbas Tavakoli, Jean Craig, Salvatore DiNardi
INTRODUCTION: Chemical exposures can pose a significant threat to life. Rapid assessment by first responders/emergency nurses is required to reduce death and disability. Currently, no informatics tools for irritant gas syndrome agents (IGSA) exposures exist to process victims efficiently, continuously monitor for latent signs/symptoms, or make triage recommendations. This study describes the first step in developing ED informatics tools for chemical incidents: validation of signs/symptoms that characterize an IGSA syndrome...
March 28, 2017: Journal of Emergency Nursing: JEN: Official Publication of the Emergency Department Nurses Association
https://www.readbyqxmd.com/read/28342715/prediction-of-neonatal-respiratory-morbidity-by-quantitative-ultrasound-lung-texture-analysis-a-multicenter-study
#12
Montse Palacio, Elisenda Bonet-Carne, Teresa Cobo, Alvaro Perez-Moreno, Joan Sabrià, Jute Richter, Marian Kacerovsky, Bo Jacobsson, Raúl A García-Posada, Fernando Bugatto, Ramon Santisteve, Àngels Vives, Mauro Parra-Cordero, Edgar Hernandez-Andrade, José Luis Bartha, Pilar Carretero-Lucena, Kai Lit Tan, Rogelio Cruz-Martínez, Minke Burke, Suseela Vavilala, Igor Iruretagoyena, Juan Luis Delgado, Mauro Schenone, Josep Vilanova, Francesc Botet, George S H Yeo, Jon Hyett, Jan Deprest, Roberto Romero, Eduard Gratacos
BACKGROUND: Prediction of neonatal respiratory morbidity may be useful to plan delivery in complicated pregnancies. The limited predictive performance of the current diagnostic tests together with the risks of an invasive procedure restricts the use of fetal lung maturity assessment. OBJECTIVE: The objective of the study was to evaluate the performance of quantitative ultrasound texture analysis of the fetal lung (quantusFLM) to predict neonatal respiratory morbidity in preterm and early-term (<39...
March 23, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28303898/circulating-tumour-dna-reflects-treatment-response-and-clonal-evolution-in-chronic-lymphocytic-leukaemia
#13
Paul Yeh, Tane Hunter, Devbarna Sinha, Sarah Ftouni, Elise Wallach, Damian Jiang, Yih-Chih Chan, Stephen Q Wong, Maria Joao Silva, Ravikiran Vedururu, Kenneth Doig, Enid Lam, Gisela Mir Arnau, Timothy Semple, Meaghan Wall, Andjelija Zivanovic, Rishu Agarwal, Pasquale Petrone, Kate Jones, David Westerman, Piers Blombery, John F Seymour, Anthony T Papenfuss, Mark A Dawson, Constantine S Tam, Sarah-Jane Dawson
Several novel therapeutics are poised to change the natural history of chronic lymphocytic leukaemia (CLL) and the increasing use of these therapies has highlighted limitations of traditional disease monitoring methods. Here we demonstrate that circulating tumour DNA (ctDNA) is readily detectable in patients with CLL. Importantly, ctDNA does not simply mirror the genomic information contained within circulating malignant lymphocytes but instead parallels changes across different disease compartments following treatment with novel therapies...
March 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28295527/factors-predicting-survival-in-chronic-lymphocytic-leukemia-patients-developing-richter-syndrome-transformation-into-hodgkin-lymphoma
#14
Francesca Romana Mauro, Piero Galieni, Alessandra Tedeschi, Luca Laurenti, Giovanni Del Poeta, Gianluigi Reda, Marina Motta, Alessandro Gozzetti, Roberta Murru, Maria Denise Caputo, Melissa Campanelli, Anna Maria Frustaci, Idanna Innocenti, Sara Raponi, Anna Guarini, Fortunato Morabito, Robin Foà, Massimo Gentile
We hereby report the clinical and biologic features of 33 of 4680 (0.7%) patients with chronic lymphocytic leukemia (CLL), managed at 10 Italian centers, who developed Hodgkin lymphoma (HL), a rare variant of Richter syndrome. The median age at CLL and at HL diagnosis were 61 years (range 41-80) and 70 years (range 46-82), respectively, with a median interval from CLL to the diagnosis of HL of 90 months (range 0-258). In 3 cases, CLL and HL were diagnosed simultaneously. Hl was characterized by advanced stage in 79% of cases, International Prognostic Score (IPS) ≥4 in 50%, extranodal involvement in 39%, B symptoms in 70%...
March 10, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28289555/gender-differences-in-post-traumatic-stress
#15
Maria Grazia Modena, Daniele Pettorelli, Giulia Lauria, Elisa Giubertoni, Erminio Mauro, Valentina Martinotti
Acute stress can trigger cardiovascular events and disease. The earthquake is an "ideal" natural experiment for acute and chronic stress, with impact mainly on the cardiovascular system. On May 20th and 29th, 2012, two earthquakes of magnitude 5.9° to 6.4° on the Richter scale, hit the province of Modena and Reggio Emilia, an area of the north-center of Italy never considered at seismic risk. The purpose of our study was to assess whether there were gender-specific differences in stress-induced incidence of cardiovascular events and age of patients who arrived at the Emergency Departments (ED) of the three main teaching hospitals of the University of Modena and Reggio Emilia...
2017: BioResearch Open Access
https://www.readbyqxmd.com/read/28263223/hypereosinophilic-syndrome-after-liver-transplantation-a-case-report-and-a-review-of-the-literature
#16
Wiebke Aulbert, Robin Kobbe, Christian Breuer, Andrea Briem-Richter, Hansjörg Schäfer, Florian Brinkert, Anne Dettmar, Markus Josef Kemper, Enke Grabhorn
Persistently elevated eosinophil granulocytes in the peripheral blood in children is challenging because of a complex diagnosis especially after solid organ transplantation and can lead to difficulties in finding an underlying causative factor.We report a 12-year-old boy who developed severe hypereosinophilia 11 years after liver transplantation due to biliary atresia. Accompanying symptoms were recurrent fever, fatigue, elevated liver enzymes, abdominal pain, and significant weight loss. After exclusion of secondary causes of eosinophilia, an idiopathic hypereosinophilic syndrome (I-HES) was diagnosed...
May 2017: Transplantation
https://www.readbyqxmd.com/read/28262089/subsyndromal-delirium-in-the-intensive-care-setting-phenomenological-characteristics-and-discrimination-of-subsyndromal-delirium-versus-no-and-full-syndromal-delirium
#17
Soenke Boettger, David Garcia Nuñez, Rafael Meyer, André Richter, Maria Schubert, Josef Jenewein
OBJECTIVE: Similar to delirium, its subsyndromal form has been recognized as the cause of diverse adverse outcomes. Nonetheless, the nature of this subsyndromal delirium remains vastly understudied. Therefore, in the following, we evaluate the phenomenological characteristics of this syndrome versus no and full-syndromal delirium. METHOD: In this prospective cohort study, we evaluated the Delirium Rating Scale-Revised, 1998 (DRS-R-98) versus the Diagnostic and Statistical Manual of Mental Disorders, 4th ed...
March 6, 2017: Palliative & Supportive Care
https://www.readbyqxmd.com/read/28257934/randall-sakai-chronic-social-stress-and-the-research-tradition-of-curt-richter
#18
REVIEW
Gerard P Smith, Gary J Schwartz
This paper describes Randall Sakai's professional career from graduate school at the University of Pennsylvania, through postdoctoral work at Rockefeller University, and to being an independent investigator at the University of Cincinnati. He was fortunate in having Alan Epstein, Bruce McEwen, and Eliot Stellar as mentors. Early in Sakai's graduate work, Epstein and Stellar introduced him to Curt Richter, the legendary investigator at Johns Hopkins. This early introduction to Richter and his tradition of research was crucial for Sakai's scientific development...
February 28, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28203174/richter-s-syndrome-with-hypercalcemia-induced-by-tumor-associated-production-of-parathyroid-hormone-related-peptide
#19
Naoki Watanabe, Hajime Yasuda, Soji Morishita, Yasuo Aota, Junichi Tomomatsu, Masaru Tanaka, Akimichi Ohsaka, Norio Komatsu
Humoral hypercalcemia due to parathyroid hormone-related peptide (PTHrP) elevation is a well-known complication of various malignancies, but the situation is rare concerning hematological malignancies except for adult T-cell leukemia/lymphoma. We report a case of Richter's syndrome with humoral hypercalcemia, and demonstrate by reverse transcription polymerase chain reaction (RT-PCR) that peripheral blood PTHrP levels were 2,500-fold higher compared to healthy controls. PTHrP production by tumor cells in chronic lymphocytic leukemia (CLL) and Richter's syndrome has been previously demonstrated by nonquantitative methods such as immunohistochemistry and northern blot analysis, but this is the first report using the RT-PCR method...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28185672/cariprazine-versus-risperidone-monotherapy-for-treatment-of-predominant-negative-symptoms-in-patients-with-schizophrenia-a-randomised-double-blind-controlled-trial
#20
György Németh, István Laszlovszky, Pál Czobor, Erzsébet Szalai, Balázs Szatmári, Judit Harsányi, Ágota Barabássy, Marc Debelle, Suresh Durgam, István Bitter, Stephen Marder, W Wolfgang Fleischhacker
BACKGROUND: Although predominant negative symptoms of schizophrenia can be severe enough to cause persistent impairment, effective treatment options are lacking. We aimed to assess the new generation antipsychotic cariprazine in adult patients with predominant negative symptoms. METHODS: In this randomised, double-blind, phase 3b trial, we enrolled adults aged 18-65 years with long-term (>2 year), stable schizophrenia and predominant negative symptoms (>6 months) at 66 study centres (mainly hospitals and university clinics, with a small number of private practices) in 11 European countries...
March 18, 2017: Lancet
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