tbuckley/cabot-search huggingface dataset:
The Genetic Basis of Hepatosplenic T-cell Lymphoma
Authors: Matthew McKinney, Andrea B. Moffitt, Philippe Gaulard, Marion Travert, Laurence De Leval, Alina Nicolae, Mark Raffeld, Elaine S. Jaffe, Stefania Pittaluga, Liqiang Xi, Tayla Heavican, Javeed Iqbal, Karim Belhadj, Marie Helene Delfau-Larue, Virginie Fataccioli, Magdalena B. Czader, Izidore S. Lossos, Jennifer R. Chapman-Fredricks, Kristy L. Richards, Yuri Fedoriw, Sarah L. Ondrejka, Eric D. Hsi, Lawrence Low, Dennis Weisenburger, Wing C. Chan, Neha Mehta-Shah, Steven Horwitz, Leon Bernal-Mizrachi, Christopher R. Flowers, Anne W. Beaven, Mayur Parihar, Lucile Baseggio, Marie Parrens, Anne Moreau, Pierre Sujobert, Monika Pilichowska, Andrew M. Evens, Amy Chadburn, Rex K.H. Au-Yeung, Gopesh Srivastava, William W. L. Choi, John R. Goodlad, Igor Aurer, Sandra Basic-Kinda, Randy D. Gascoyne, Nicholas S. Davis, Guojie Li, Jenny Zhang, Deepthi Rajagopalan, Anupama Reddy, Cassandra Love, Shawn Levy, Yuan Zhuang, Jyotishka Datta, David B. Dunson, Sandeep S. Davé
Journal: Cancer Discovery (2017)

Abstract Hepatosplenic T-cell lymphoma (HSTL) is a rare and lethal lymphoma; the genetic drivers of this disease are unknown. Through whole-exome sequencing of 68 HSTLs, we define recurrently mutated driver genes and copy-number alterations in the disease. Chromatin-modifying genes, including SETD2, INO80, and ARID1B, were commonly mutated in HSTL, affecting 62% of cases. HSTLs manifest frequent mutations in STAT5B (31%), STAT3 (9%), and PIK3CD (9%), for which there currently exist potential targeted therapies. In addition, we noted less frequent events in EZH2, KRAS, and TP53. SETD2 was the most frequently silenced gene in HSTL. We experimentally demonstrated that SETD2 acts as a tumor suppressor gene. In addition, we found that mutations in STAT5B and PIK3CD activate critical signaling pathways important to cell survival in HSTL. Our work thus defines the genetic landscape of HSTL and implicates gene mutations linked to HSTL pathogenesis and potential treatment targets. Significance: We report the first systematic application of whole-exome sequencing to define the genetic basis of HSTL, a rare but lethal disease. Our work defines SETD2 as a tumor suppressor gene in HSTL and implicates genes including INO80 and PIK3CD in the disease. Cancer Discov; 7(4); 369–79. ©2017 AACR. See related commentary by Yoshida and Weinstock, p. 352. This article is highlighted in the In This Issue feature, p. 339
Allogeneic Stem Cell Transplantation with Reduced Intensity Conditionning Regimen (RIC) for Adult Patients with AML: Same Results in Secondary and De Novo AML.
Authors: Noel-Jean Milpied, Reza Tabrizi, Thierry Guillaume, Patrice Chevallier, Arnaud Pigneux, Jean Michel Boiron, Philippe Moreau, Beatrice Mahe, Thibaut Leguay, Krimo Bouabdallah, Nadine Morineau, Jacques Delaunay, Cyril Melot, Beatrice Saulquin, Gerald Marit, Jean Luc Harousseau
Journal: Blood (2006)
The Physiological and Clinical Effects of Interrupting a Treatment Regimen of Hydroxyurea in Young Children with Sickle Cell Anemia (SCA)
Authors: Bruce W Thompson, Winfred C Wang, Scott T. Miller, Zora R. Rogers, Russell E. Ware, Courtney D. Thornburg, Sohail R. Rana, Lori Luchtman-Jones, Rathi V. Iyer, James F. Casella
Journal: Blood (2011)
Neurofilament Protein and Antineurofilament Antibodies Following Traumatic Brain Injury—Reply
Authors: Pashtun Shahim, Henrik Zetterberg, Kaj Blennow
Journal: JAMA Neurology (2017)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA Neurology HomeNew OnlineCurrent IssueFor Authors Podcast Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA Neurology journal
Hematopoietic Growth Factors In Aplastic Anemia Patients Treated with Immunosuppressive Therapy: Systematic Review and Meta-Analysis - 2010 Update.
Authors: Ronit Gurion, Anat Gafter-Gvili, Liat Vidal, Mical Paul, Isaac Ben-Bassat, Moshe Yeshurun, Ofer Shpilberg, Pia Raanani
Journal: Blood (2010)
Homoharringtonine and Low-Dose Cytosine Arabinoside Combined with G-CSF or GM-CSF Administered in Patients with Advanced Myelodysplastic Syndromes and Relapsed or Refractory Acute Myeloid Leukemia.
Authors: Caigang Xu, Juan Xu, Ting Liu, Bing Xiang, Hong Chang, Chuan He
Journal: Blood (2007)
Laser Transmyocardial Revascularization (TMR) Combined with Autologous Bone Marrow Cells for Diffuse Coronary Disease: Immunophenotype Analysis and Preliminary Clinical Results in 14 Cases
Authors: A. Alegre, B. Aguado, M. Alfonso-Pérez, C. Muñoz, M. Ortiz de Landázuri, F. Sánchez-Madrid, C. Cámara, F. Lara, J. Duarte, G. Reyes
Journal: Blood (2008)
Incidence, Clinical Presentation and Outcome of Secondary Multiple Extramedullary Plasmacytomas: Experience at Roswell Park Cancer Institute.
Authors: Rami Manochakian, Kena C. Miller, Jean-Gabriel Coignet, Swami Padmanabhan, Laurie Musial, Dawn DePaolo, Asher Alban Chanan-Khan
Journal: Blood (2006)
Outcomes Following Relapse of Non-Hodgkin Lymphoma (NHL) or Chronic Lymphocytic Leukemia (CLL) After Nonmyeloablative Conditioning and Allogeneic Hematopoietic Cell Transplantation (HCT) From HLA-Matched Related or Unrelated Donors
Authors: Mohamed L. Sorror, Barry Storer, Brenda M. Sandmaier, Georg N. Franke, Ginna G. Laport, Thomas Chauncey, Edward Agura, Michael T. Maris, James Wade, Michael A. Pulsipher, Richard T Maziarz, Firoozeh Sahebi, Peter McSweeney, Benedetto Bruno, Lars indelov, Andrew M. Yeager, Andrew Rezvani, Dietger W Niederwieser, Karl G. Blume, Rainer F. Storb, David G. Maloney
Journal: Blood (2010)
MiR-3151, a Novel MicroRNA Embedded in BAALC, Is Only Weakly Co-Expressed with Its Host Gene and Independently Impacts on the Clinical Outcome of Older Patients (Pts) with De Novo Cytogenetically Normal Acute Myeloid Leukemia (CN-AML)
Authors: Ann-Kathrin Eisfeld, Guido Marcucci, Kati Maharry, Sebastian Schwind, Michael D. Radmacher, Deedra Nicolet, Heiko Becker, Susan P. Whitman, Klaus H. Metzeler, Krzysztof Mrózek, Yue-Zhong Wu, Maria R. Baer, Bayard L. Powell, Thomas H. Carter, Joseph O. Moore, Jonathan E. Kolitz, Meir Wetzler, Michael A Caligiuri, Richard A. Larson, Stephan M. Tanner, Albert de la Chapelle, Clara D. Bloomfield
Journal: Blood (2011)
Results of an allergy educational needs questionnaire for primary care
Authors: D. Ryan, E. Angier, M. Gomez, D. Church, M. Batsiou, K. Nekam, N. Lomidze, R. Gawlik
Journal: Allergy (2017)

It is well recognized that knowledge of allergic conditions is suboptimal in primary care. The Primary Care Interest Group of the European Academy of Allergy and Clinical Immunology undertook an educational needs survey to better understand what they were and how best to meet them, in the primary care environment. An electronic questionnaire was devised and distributed as widely as possible. A total of 2226 people from 63 countries opened the e-questionnaire of which 692 provided evaluable responses. In total, 81% were medical doctors with 299 possessing additional qualifications. Self-declared gaps in knowledge were expressed for most manifestations of allergy with a correspondingly high self-expressed educational need. The preferred learning modalities were online guidelines (69.6%) and courses (68.8%) followed closely by workshops (68%), structured online modules (63.9%) and small local working groups (59.75%). Podcasts and webinars scored poorly with only 25% expressing these as preferred learning modes although there was an age gradient. The preferred electronic platform was the personal computer (82.6%). A better understanding of the needs of primary care should help guide the design of educational initiatives to meet those needs.
Why does she (or he) hate me?
Authors: Kaustubh G Joshi
Journal: BMJ (2017)

As we were wrapping up our therapy session, I said, “I wanted to let you know that I will be going on vacation for a week at the end of the month. Can we move our usual appointment time slot to the following week?”

She angrily replied, “I hate you” and stormed out of my office. …
Traitement photodynamique du cholangiocarcinome
Authors: R Delcenserie, T Yzet
Journal: Endoscopy (2006)

La thérapie photodynamique (PDT) consiste en l'injection d'un photosensibilisant suivi 48 heures plus tard d'une illumination par laser qui entraîne une destruction par effet chimique des cellules tumorales qui ont fixé préferentiellement le porfimère.
Myeloma Treatment Compliance 2009: Results of An International Comparative Survey Conducted by Myeloma Euronet (ME), the European Network of Myeloma Patient Groups.
Authors: Anita Waldmann, Begoña Barragán, Viorica Cursaru, Candy Heberlein, Miroslav Hrianka, Friedrich Richter, Roman Sadżuga
Journal: Blood (2009)
Anti-Xa Levels in Critically Ill Patients Receiving Dalteparin for Thromboprophylaxis.
Authors: Ellen McDonald, Craig Dale, Susan Pleasance, Andrea McNeill, Johanne Harvey, Christine Wynne, Mark Duffett, Louise Provost, Anik Rioux, Genevieve LaRouche, Carson Davidson, Irene Watpool, Tracy McCardle, Julia Foxall, Kim Bouwers, Mary Jo, Nicole Zytaruk, Lauren Griffith, Mark Crowther, Deborah Cook
Journal: Blood (2004)
The Emerging Market of Smartphone-Integrated Infant Physiologic Monitors
Authors: Christopher P. Bonafide, David T. Jamison, Elizabeth E. Foglia
Journal: JAMA (2017)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
Authors: Irina Pleines, Joanne Woods, Stephane Chappaz, Verity Kew, Nicola Foad, José Ballester-Beltrán, Katja Aurbach, Chiara Lincetto, Rachael M. Lane, Galina Schevzov, Warren S. Alexander, Douglas J. Hilton, William J. Astle, Kate Downes, Paquita Nurden, Sarah K. Westbury, Andrew D. Mumford, Samya G. Obaji, Peter W. Collins, Fabien Delerue, Lars M. Ittner, Nicole S. Bryce, Mira Holliday, Christine A. Lucas, Edna C. Hardeman, Willem H. Ouwehand, Peter W. Gunning, Ernest Turro, Marloes R. Tijssen, Benjamin T. Kile
Journal: Journal of Clinical Investigation (2017)

Platelets are anuclear cells that are essential for blood clotting. They are produced by large polyploid precursor cells called megakaryocytes. Previous genome-wide association studies in nearly 70,000 individuals indicated that single nucleotide variants (SNVs) in the gene encoding the actin cytoskeletal regulator tropomyosin 4 (TPM4) exert an effect on the count and volume of platelets. Platelet number and volume are independent risk factors for heart attack and stroke. Here, we have identified 2 unrelated families in the BRIDGE Bleeding and Platelet Disorders (BPD) collection who carry a TPM4 variant that causes truncation of the TPM4 protein and segregates with macrothrombocytopenia, a disorder characterized by low platelet count. N-Ethyl-N-nitrosourea–induced (ENU-induced) missense mutations in Tpm4 or targeted inactivation of the Tpm4 locus led to gene dosage–dependent macrothrombocytopenia in mice. All other blood cell counts in Tpm4-deficient mice were normal. Insufficient TPM4 expression in human and mouse megakaryocytes resulted in a defect in the terminal stages of platelet production and had a mild effect on platelet function. Together, our findings demonstrate a nonredundant role for TPM4 in platelet biogenesis in humans and mice and reveal that truncating variants in TPM4 cause a previously undescribed dominant Mendelian platelet disorder.
Molecular remission of infant B-ALL after infusion of universal TALEN gene-edited CAR T cells
Authors: Waseem Qasim, Hong Zhan, Sujith Samarasinghe, Stuart Adams, Persis Amrolia, Sian Stafford, Katie Butler, Christine Rivat, Gary Wright, Kathy Somana, Sara Ghorashian, Danielle Pinner, Gul Ahsan, Kimberly Gilmour, Giovanna Lucchini, Sarah Inglott, William Mifsud, Robert Chiesa, Karl S. Peggs, Lucas Chan, Farzin Farzaneh, Adrian J. Thrasher, Ajay Vora, Martin Pule, Paul Veys
Journal: Science Translational Medicine (2017)

Autologous T cells engineered to express chimeric antigen receptor against the B cell antigen CD19 (CAR19) are achieving marked leukemic remissions in early-phase trials but can be difficult to manufacture, especially in infants or heavily treated patients. We generated universal CAR19 (UCART19) T cells by lentiviral transduction of non-human leukocyte antigen-matched donor cells and simultaneous transcription activator-like effector nuclease (TALEN)-mediated gene editing of T cell receptor α chain and CD52 gene loci. Two infants with relapsed refractory CD19+ B cell acute lymphoblastic leukemia received lymphodepleting chemotherapy and anti-CD52 serotherapy, followed by a single-dose infusion of UCART19 cells. Molecular remissions were achieved within 28 days in both infants, and UCART19 cells persisted until conditioning ahead of successful allogeneic stem cell transplantation. This bridge-to-transplantation strategy demonstrates the therapeutic potential of gene-editing technology.
Does primary lesion have to be regarded as a target lesion when evaluating response in metastatic renal cell carcinoma (mRCC) treated with sunitinib?
Authors: Inkeun Park, Yongchel Ahn, Kwonoh Park, Seongjoon Park, Jin-Hee Ahn, Cheryn Song, Jun Hyuk Hong, Choung-Soo Kim, Hanjong Ahn, Jae-Lyun Lee
Journal: Journal of Clinical Oncology (2012)

425 Background: Primary lesion in mRCC often shows necrotic change or only density changes to targeted therapy. As most clinical trials for mRCC have enrolled nephrectomized patients (pts), there is no consensus on including primary lesion in target lesion when evaluating response. We investigated whether best overall response (OR) changes when designate target lesions with or without primary lesion, and such discordance lead to difference in predictive value in terms of time to progression (TTP) and overall survival (OS). Methods: We enrolled mRCC pts with intact primary lesion, at least one measurable metastatic lesion, and proper image data who had received sunitinib in our institution between 2003 and 2011. We documented the variation of the sum of the largest diameters (ΔSLD) with all target lesions and with metastasis-only target lesions separately. Response evaluation was calculated with RECIST v1.1. Results: Of 41 pts, 38 received sunitinib as 1 st line treatment and 3 did as 2 nd line. The most frequent metastatic site was lung (63.4%) followed by lymph node (46.3%) and bone (42.5%). Median ΔSLD of primary lesion and metastatic target lesion were -6.02% (range: -34.00 to 17.60%), and -18.03% (-100.00 to 120.00%). On response evaluation with metastasis-only target lesions, best OR of 2 pts (4.87%) changed from stable disease to partial response. When categorize pts into responders and non-responders, metastasis-only target lesions resulted in significantly better discrimination of TTP (14.949 vs 4.271 mo, p=0.01) and OS (18.497 vs 9.561 mo, p=0.036) between two groups. Using all target lesions, both TTP (14.949 vs 5.355 mo, p=0.056) and OS (17.971 vs 10.579 mo, p=0.155) were statistically insignificant. Conclusions: Our study showed discordance in OR between using all target lesions and using metastasis-only target lesions, and metastasis-only target lesion could have more accurate predictive value. As response rate is often used as an end point in clinical research of mRCC, further discussion is needed whether primary lesion should be included or not in target lesion. [Table: see text]
The G-CSF Produces Long-Term Changes in Gene and Mirnas Expression Profiles in CD34+ From Healthy Donors
Authors: Alicia Báez, Concepción Prats-Martín, Isabel Álvarez-Laderas, Estefania Garcia, Luis Ignacio Sanchez-Abarca, Beatriz Martin-Antonio, Alvaro Urbano-Ispizua, Jose Antonio Pérez Simón
Journal: Blood (2012)
Long-term dietary quality and risk of developing rheumatoid arthritis in women
Authors: Yang Hu, Jeffrey A Sparks, Susan Malspeis, Karen H Costenbader, Frank B Hu, Elizabeth W Karlson, Bing Lu
Journal: Annals of the Rheumatic Diseases (2017)

To evaluate the association between long-term dietary quality, measured by the 2010 Alternative Healthy Eating Index, and risk of rheumatoid arthritis (RA) in women.
Evaluation of Therapy in Symptomatic Patients with Lymphoproliferative Disorders of Large Granular Lymphocytes in Italy
Authors: Laura Pavan, Roberta Zanotti, Elena De March, Cinzia Sissa, Monica Cavraro, Pietro Leoni, Alberto Fragasso, Luca Arcaini, Tamara Intermesoli, Livio Trentin, Gianpietro Semenzato, Renato Zambello
Journal: Blood (2011)
Sequence Variations in miRNA Genes Are Common and May Affect Their Expression in Patients with Chronic Lymphocytic Leukemia
Authors: Jana Kminkova, Marek Mraz, Veronika Navrkalova, Boris Tichy, Jitka Malcikova, Karla Plevova, Vladimir Benes, Tobias Rausch, Yvona Brychtova, Michael Doubek, Jiri Mayer, Sarka Pospisilova
Journal: Blood (2012)
New Film-Coated Tablet Formulation of Deferasirox Is Well Tolerated in Patients with Thalassemia or MDS: Results of the Randomized, Phase II E.C.L.I.P.S.E. Study
Authors: Ali T. Taher, Raffaella Origa, Silverio Perrotta, Alexandra Kouraklis, Giovan Battista Ruffo, Antonis Kattamis, Ai-Sim Goh, Annelore Cortoos, Vicky Huang, Marine Weill, Raquel Merino Herranz, John B. Porter
Journal: Blood (2016)
Prognostic factors in node-negative vulvar cancer.
Authors: L. L. Woelber, C. Eulenburg, M. Choschzick, L. Kock, M. Hager, F. Gieseking, C. Petersen, F. Jaenicke, S. Mahner
Journal: Journal of Clinical Oncology (2011)

e15514 Background: Lymph-node metastases to the groin are the most important prognostic factor in vulvar cancer. Prognosis in node-negative vulvar cancer is generally favorable, however, in a small proportion of node-negative patients disease recurs early with the need for radical salvage interventions. There are currently no prognostic factors available to identify this subset of patients. We therefore analyzed a large and homogeneously treated group of patients with node-negative vulvar cancer to identify possible prognostic factors for recurrence and survival. Methods: One-hundred-and-eight consecutive node-negative patients with primary squamous cell cancer of the vulva treated at our center between 1998 and 2008 were analyzed. All patients underwent primary surgery via triple incision resulting in complete tumor resection. Thirty-three patients received a sentinel-node resection only; all others underwent complete inguino-femoral lymph-node dissection. Median follow-up was 40.5 months. Results: Median age of the patients was 59 years; the majority (88.5%) had pT1b and pT2 tumors with a median size of 16mm (range 1-150mm). The median minimal resection margin was 5mm (range 1-25mm). Twelve patients received adjuvant radiotherapy of the vulva (without the groins or pelvis) because of large primary tumors. Nine patients (8.3%) developed disease recurrence (thereof five at the vulva and four at the groins). Despite patients' age (p=0.035) none of the analyzed clinical parameters (stage, tumor size, invasion depth, tumor grade, hpv status, resection margin distance, adjuvant radiation, mode of groin dissection [sentinel vs. full]) was prognostically relevant for disease-free survival. Conclusions: Despite patients' age, the common prognostic factors of advanced vulvar cancer appear to be irrelevant in patients with node-negative disease. New molecular markers are therefore needed to identify high risk disease in this subset of patients.
Prognosis of Low- or Intermediate-1-Risk MDS with Del(5q) Chromosome Abnormality During Lenalidomide Therapy Depends on the Capacity of the Neoplastic Stem Cell to Differentiate Into Maturing Erythroid Committed Stem Cells,
Authors: Guntram Buesche, Aristoteles Giagounidis, Gudrun Göhring, Brigitte Schlegelberger, Stephanie Dieck, Robert Knight, Carlo Aul, Hans H. Kreipe
Journal: Blood (2011)