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Richter's Syndrome

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https://www.readbyqxmd.com/read/28103472/microsatellite-expansion-diseases-repeat-toxicity-found-in-translation
#1
Fen-Biao Gao, Joel D Richter
Sellier et al. (2017) show that translation of expanded CGG repeats in fragile X-associated tremor/ataxia syndrome is initiated at an upstream ACG near-cognate start codon. The resulting polyglycine-containing protein, but not repeat RNA, is pathogenic by disrupting the nuclear lamina.
January 18, 2017: Neuron
https://www.readbyqxmd.com/read/28095146/phase-i-first-in-human-study-of-venetoclax-in-patients-with-relapsed-or-refractory-non-hodgkin-lymphoma
#2
Matthew S Davids, Andrew W Roberts, John F Seymour, John M Pagel, Brad S Kahl, William G Wierda, Soham Puvvada, Thomas J Kipps, Mary Ann Anderson, Ahmed Hamed Salem, Martin Dunbar, Ming Zhu, Franklin Peale, Jeremy A Ross, Lori Gressick, Monali Desai, Su Young Kim, Maria Verdugo, Rod A Humerickhouse, Gary B Gordon, John F Gerecitano
Purpose B-cell leukemia/lymphoma-2 (BCL-2) overexpression is common in many non-Hodgkin lymphoma (NHL) subtypes. A phase I trial in patients with NHL was conducted to determine safety, pharmacokinetics, and efficacy of venetoclax, a selective, potent, orally bioavailable BCL-2 inhibitor. Patients and Methods A total of 106 patients with relapsed or refractory NHL received venetoclax once daily until progressive disease or unacceptable toxicity at target doses from 200 to 1,200 mg in dose-escalation and safety expansion cohorts...
January 17, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28072810/high-frequency-spinal-cord-stimulation-for-complex-regional-pain-syndrome-a-case-report
#3
Joseph T Crapanzano, Lisa M Harrison-Bernard, Mark R Jones, Alan D Kaye, Erich O Richter, Mordeci N Potash
Complex regional pain syndrome (CRPS) is a chronic, debilitating, neuropathic pain condition which is often misdiagnosed, difficult to manage, and lacks proven methods for remission. Most available methods provide some relief to a small percentage of patients. Recent FDA approval and superiority of the Nevro Senza 10-kHz high frequency (HF10) spinal cord stimulation (SCS) therapy over traditional low-frequency spinal cord stimulation for treatment of chronic back and leg pain may provide a new interventional therapeutic option for patients suffering from CRPS...
January 2017: Pain Physician
https://www.readbyqxmd.com/read/28012536/the-impact-of-tobacco-exposure-on-development-of-otorrhea-after-myringotomy-tube-placement
#4
Jamie G Bizzell, Matthew D Cox, Annie R Wang, Gresham T Richter, Abby R Nolder
INTRODUCTION: Otorrhea is a common sequela after myringotomy with tube placement (MTP). The purpose of this study was to identify any significant relationship between passive tobacco exposure and the development of post-tympanostomy tube otorrhea. METHODS: Retrospective chart review was performed on 774 cases of patients who underwent MTP by a single surgeon at a tertiary pediatric hospital from 2012 to 2014. Patients with multiple medical comorbidities, craniofacial anomalies, syndromes and those over 12 years of age were excluded...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28002286/macular-microcysts-in-schwartz-matsuo-syndrome
#5
Xuejing Chen, Grace M Richter, Joseph Caprioli, Tara A McCannel
PURPOSE: To describe a case of macular microcysts associated with advanced secondary glaucoma from Schwartz-Matsuo syndrome. METHODS: Clinical presentation, color fundus photography, optic disk photography, visual fields, and optical coherence tomography are presented. RESULTS: A 32-year-old woman presented with advanced, unilateral secondary glaucoma associated with a macula-on rhegmatogenous retinal detachment. She was diagnosed with Schwartz-Matsuo syndrome...
December 20, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27918339/irritable-bowel-syndrome-and-quality-of-life-in-women-with-fecal-incontinence
#6
Alayne D Markland, J Eric Jelovsek, David D Rahn, Lu Wang, Leah Merrin, Ashok Tuteja, Holly E Richter, Susan Meikle
OBJECTIVES: The objectives of this work were to determine the prevalence of irritable bowel syndrome (IBS) and IBS subtypes in women presenting for fecal incontinence (FI) treatment and to assess the impact of IBS on FI symptoms and quality of life (QOL). METHODS: In this multicenter prospective cohort study, women reported at least monthly solid, liquid, or mucus FI. Rome III clinical criteria defined IBS. Women also self-reported having an IBS diagnosis. Baseline questionnaires included the following: Modified Manchester Health Questionnaire, Fecal Incontinence Severity Index, Bristol Stool Scale, Pelvic Floor Distress Inventory, and the Pelvic Floor Impact Questionnaire...
December 1, 2016: Female Pelvic Medicine & Reconstructive Surgery
https://www.readbyqxmd.com/read/27899414/sentinel-case-of-richter-transformation-from-chronic-lymphocytic-leukaemia-small-lymphocytic-lymphoma-to-cd3-diffuse-large-b-cell-lymphoma
#7
Ali Ismail, Jawed A Mallick, Dahui Qin, Mohammad O Hussaini
AIM: To report the first case of a Richter syndrome where small lymphocytic lymphoma (SLL) progressed to a CD3+ diffuse large B-cell lymphoma (DLBCL). METHODS: Macrodissection of small and large cell lymphomatous components was performed. This was followed by flow cytometric analysis along with molecular B-cell immunoglobulin (heavy and light chains) and T-cell receptor (γ and β chains) gene rearrangement studies to investigate a clonal relationship between the components...
November 29, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27899001/drug-interventions-for-the-treatment-of-obesity-in-children-and-adolescents
#8
REVIEW
Emma Mead, Greg Atkinson, Bernd Richter, Maria-Inti Metzendorf, Louise Baur, Nicholas Finer, Eva Corpeleijn, Claire O'Malley, Louisa J Ells
BACKGROUND: Child and adolescent obesity has increased globally, and can be associated with significant short- and long-term health consequences. OBJECTIVES: To assess the efficacy of drug interventions for the treatment of obesity in children and adolescents. SEARCH METHODS: We searched CENTRAL, MEDLINE, Embase, PubMed (subsets not available on Ovid), LILACS as well as the trial registers ICTRP (WHO) and ClinicalTrials.gov. Searches were undertaken from inception to March 2016...
November 29, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27878308/-systemic-lupus-erythematosus-unusual-cutaneous-manifestations
#9
REVIEW
T Stockinger, L Richter, M Kanzler, M Melichart-Kotik, H Pas, K Derfler, E Schmidt, K Rappersberger
BACKGROUND: Various different mucocutaneous symptoms may affect up to 80 % of systemic lupus erythematosus (SLE) patients. OBJECTIVES: To investigate, various unspecific, but otherwise typical clinical symptoms of skin and mucous membranes that arise in SLE patients other than those defined as SLE criteria such as butterfly rash, chronic cutaneous lupus erythematosus, oral ulcers, and increased photosensitivity. MATERIALS AND METHODS: Extensive search of peer-reviewed scientific articles was performed, medical histories of several SLE patients seen in our department were analyzed, and the rare disease courses in three SLE patients are presented...
December 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27862363/a-comprehensive-microbiological-safety-approach-for-agarose-encapsulated-porcine-islets-intended-for-clinical-trials
#10
Lawrence S Gazda, James Collins, Archie Lovatt, Robert W Holdcraft, Merribeth J Morin, Daniel Galbraith, Melanie Graham, Melissa A Laramore, Christine Maclean, John Black, Euan W Milne, Douglas G Marthaler, Horatiu V Vinerean, Michelle M Michalak, Deborah Hoffer, Steven Richter, Richard D Hall, Barry H Smith
BACKGROUND: The use of porcine islets to replace insulin-producing islet β-cells, destroyed during the diabetogenic disease process, presents distinct challenges if this option is to become a therapeutic reality for the treatment of type 1 diabetes. These challenges include a thorough evaluation of the microbiological safety of the islets. In this study, we describe a robust porcine islet-screening program that provides a high level of confidence in the microbiological safety of porcine islets suitable for clinical trials...
November 2016: Xenotransplantation
https://www.readbyqxmd.com/read/27852142/ebv-positive-richter-s-syndrome-with-laboratory-features-of-burkitt-s-lymphoma-in-ibrutinib-treated-chronic-lymphocytic-leukemia
#11
Mohammad O Hussaini, Alman Rehman, Julio C Chavez, Javier Pinilla-Ibarz, Pedro Horna
No abstract text is available yet for this article.
November 16, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27830291/-cutaneous-involvement-in-chronic-inflammatory-bowel-disease-crohn-s-disease-and-ulcerative-colitis
#12
REVIEW
L Richter, K Rappersberger
BACKGROUND: Over recent decades, both the incidence and prevalence of chronic inflammatory bowel disease have continued to rise in industrialized countries; the disease is frequently associated with extracutaneous involvement and comorbidity. OBJECTIVES: The purpose of this work was to investigate the frequency and specificity of mucocutaneous manifestations in Crohn's disease (CD) and ulcerative colitis (UC). MATERIALS AND METHODS: An extensive search in peer-reviewed journals via PubMed was performed; presented is a summary and analysis of various studies and data, including data of patients treated at our department...
December 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27801729/richter-syndrome-with-plasmablastic-lymphoma-at-primary-diagnosis-a-case-report-with-a-review-of-the-literature
#13
Andrea Ronchi, Laura Marra, Ferdinando Frigeri, Gerardo Botti, Renato Franco, Annarosaria De Chiara
Richter syndrome (RS) is considered as the rare development of an aggressive lymphoid malignancy in a preexisting small lymphocytic lymphoma/chronic lymphocytic leukemia. The most common aggressive lymphoma developing in this setting is diffuse large B-cell lymphoma, but classical Hodgkin lymphoma and other much rarer entities such as prolymphocytic lymphoma and dendritic cell sarcoma are also described, most frequently in the progression of the disease over time. A clonal relation between the 2 neoplastic proliferations can be frequently found, whereas clonally unrelated cases are commonly considered as independent tumors, probably due to a variable combination of multiple causes, responsible independently for the 2 neoplasms...
October 31, 2016: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/27742070/richter-s-syndrome-novel-and-promising-therapeutic-alternatives
#14
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
https://www.readbyqxmd.com/read/27729482/medial-tibial-stress-syndrome-in-active-individuals-a-systematic-review-and-meta-analysis-of-risk-factors
#15
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
https://www.readbyqxmd.com/read/27697500/long-term-outcomes-of-176-patients-with-x-linked-hyper-igm-syndrome-treated-with-or-without-hematopoietic-cell-transplantation
#16
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
https://www.readbyqxmd.com/read/27676359/chronic-subordinate-colony-housing-paradigm-a-mouse-model-for-mechanisms-of-ptsd-vulnerability-targeted-prevention-and-treatment-2016-curt-richter-award-paper
#17
REVIEW
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...
December 2016: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/27637985/ibrutinib-for-patients-with-relapsed-or-refractory-chronic-lymphocytic-leukaemia-with-17p-deletion-resonate-17-a-phase-2-open-label-multicentre-study
#18
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
https://www.readbyqxmd.com/read/27617524/cutaneous-richter-syndrome-mimicking-a-lower-limb-cellulitis-infection-a-case-report-and-review-of-the-literature
#19
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...
May 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27617004/whole-genome-sequencing-of-enterovirus-species-c-isolates-by-high-throughput-sequencing-development-of-generic-primers
#20
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
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