tbuckley/cabot-search huggingface dataset:
Severe Sideroblastic Anaemia in an ALAS2 Compound Heterozygote for −206G, a Common Polymorphism, and a Novel Mutation in Exon 11 (Lys535del) Linked to Lack of Haemoglobinisation In Vitro and Ineffective Erythropoiesis In Vivo.
Authors: Alison May, Carol Barton, Gillian Masters, Jeanne Kingston, Sue Lawless, Michael Jenner
Journal: Blood (2005)
Coordinate Loss of a MicroRNA Mir 145 and a Protein-Coding Gene RPS14 Cooperate in the Pathogenesis of 5q- Syndrome.
Authors: Madhu Kumar, Anupama Narla, Atsushi Nonami, Brian Ball, Christine Chin, Cindy Chen, Jeffery Lorne Kutok, Naomi Galili, Azra Raza, Eyal C. Attar, D. Gary GIlliland, Tyler Jacks, Benjamin L. Ebert
Journal: Blood (2009)
The role of the proteasome in AML
Authors: C M Csizmar, D-H Kim, Z Sachs
Journal: Blood Cancer Journal (2016)

Abstract Acute myeloid leukemia (AML) is deadly hematologic malignancy. Despite a well-characterized genetic and molecular landscape, targeted therapies for AML have failed to significantly improve clinical outcomes. Over the past decade, proteasome inhibition has been demonstrated to be an effective therapeutic strategy in several hematologic malignancies. Proteasome inhibitors, such as bortezomib and carfilzomib, have become mainstays of treatment for multiple myeloma and mantle cell lymphoma. In light of this success, there has been a surge of literature exploring both the role of the proteasome and the effects of proteasome inhibition in AML. Pre-clinical studies have demonstrated that proteasome inhibition disrupts proliferative cell signaling pathways, exhibits cytotoxic synergism with other chemotherapeutics and induces autophagy of cancer-related proteins. Meanwhile, clinical trials incorporating bortezomib into combination chemotherapy regimens have reported a range of responses in AML patients, with complete remission rates &gt;80% in some cases. Taken together, this preclinical and clinical evidence suggests that inhibition of the proteasome may be efficacious in this disease. In an effort to focus further investigation into this area, these recent studies and their findings are reviewed here.
Adjusting to Traumatic Stress Research
Authors: Murray B. Stein
Journal: American Journal of Psychiatry (2016)

Adjustment disorder has been newly moved to the traumaand stressor-related disorders chapter of DSM-5.It is a poorly studied disorder, despite the diagnosis being frequently applied (1).According to DSM-5, adjustment disorder symptoms "arise in response to a stressful event" (2).DSM-5 does not provide guidance as to what constitutes a "stressful event."If a stressful event is defined on the basis of its capacity to elicit mental health symptoms, then that is circular-or tautological, but logically flawed anyway.This nondefinition makes it very difficult to conduct a prospective longitudinal study of adjustment disorder, since anyone could be at risk at any time, and one would not know if exposure had taken place until after the outcome (symptoms or impairment) had occurred.In this issue of the Journal, O'Donnell et al.(3) provide a partial solution to this epidemiological methods dilemma.They begin with a cohort of individuals exposed to a stressor that would be viewed almost universally as stressful: serious physical injury.This approach enables them to follow the cohort of exposed individuals longitudinally and determine what mental disorders-including, but not limited to, adjustment disorder-develop over the ensuing 3-and 12-month observation intervals.They also tackled the problem of there being no gold-standard diagnostic instrument for adjustment disorder by using a conglomerate of measures intended to capture its key constructs.Whereas these clever methodological innovations made it possible for the investigators to conduct the study, they also constrain interpretation of the findings to severely injured individuals and to a potentially idiosyncratic definition of adjustment disorder.These limitations notwithstanding, the study yields several important insights.Adjustment disorders were common at 3 (19.8%)and 12 (16.3%)months.In terms of disability and quality of life, persons with an adjustment disorder reported worse outcomes than those with no diagnosis but better outcomes than those with any other DSM-5 psychiatric diagnosis examined (e.g., major depression, posttraumatic stress disorder [PTSD], generalized anxiety disorder).These findings fit with the notion that adjustment disorders are subthreshold conditions, warranting "diagnosis" because they do affect functioning and well-being, but less so than full-threshold conditions.It was also noted that having an adjustment disorder at 3 months increased the risk more than fivefold for having another mental disorder at 12 months.This observation further suggests that for many individuals, adjustment disorder is a transitional diagnosis that is subsequently eclipsed by another full-threshold mental disorder.
Expression of the Chemokine Receptor CXCR4, CXCL12G801A Gene polymorphism and SDF1 Plasma Levels in B-Cell Chronic Lymphocytic Leukemia (B-CLL): Correlation with PBSC Mobilisation, Disease Characteristics and Outcome.
Authors: Adriana Plesa, Gaetan Lesca, Nathalie Dhedin, Mohamad Sobh, Anne S. Michallet, Franck E. Nicolini, Helene Merle-Beral, Frederic Garban, Veronique Leblond, Karen Sagorny, Stephane Morisset, Alain Calender, Charles Dumontet, Michel Leporrier, Laurent Sutton, Mauricette Michallet
Journal: Blood (2009)
Post-Transplant Prophylactic Cellular Immunotherapy with Anti- Leukemic WT1-Specific CTLs for High-Risk Acute Myelogenous Leukemia
Authors: Heeje Kim, Hyun-Jung Sohn, Hee-Baeg Choi, Woo-Sung Min, Byung-Sik Cho, Yoo-Jin Kim, Jong-Wook Lee, Chun-Choo Kim, Tai-Gyu Kim
Journal: Blood (2008)
Response to Harrison et al. ‘Clinically relevant differences between BCSH and WHO diagnostic criteria for ET’
Authors: H Gisslinger, G Jeryczynski, A Wölfler, C Beham-Schmid, J Thiele
Journal: Leukemia (2016)

We welcome the critical comments expressed by Harrison et al.1 as they provide an opportunity to address the impact of bone marrow (BM) morphology for the accurate diagnosis of essential thrombocythemia (ET). The readers of Leukemia are certainly aware that the first set of the original and updated BCSH diagnostic criteria (A1-A3) allows ET diagnosis without BM morphology examination (see also Table 1—Harrison et al.). It is important to highlight that, according to these guidelines, only overt PMF defined by significant BM fibrosis and palpable splenomegaly, blood film abnormalities (circulating progenitors and tear-drop cells) or unexplained anemia is excluded from ET. This explicit restriction to separate only overt PMF from ET disregards early/prefibrotic stages of PMF (prePMF) associated with high platelet counts and summarizes this patient group under the BCSH definition of ET.2, 3 We would like to underscore that prePMF is not recognized and consequently not included in the corresponding updated BCSH-criteria for PMF,4 contrasting the 20085 and recently revised WHO classification.6
Impact of Imatinib Mesylate Dose Escalation on Resistance and Sub-Optimal Responses to Standard-Dose Therapy in Patients (pts) with Chronic Myeloid Leukemia (CML).
Authors: Elias Jabbour, Hagop Kantarjian, Ehab Atallah, Gautam Borthakur, William Wierda, Stefan Faderl, Steven Kornblau, Jorge Cortes
Journal: Blood (2007)
Fucosylation of Cord Blood CD34+ Cells Improves the Rate of Engraftment without Compromising Long-Term Engraftment.
Authors: Simon N. Robinson, Hong Yang, William K. Decker, Dongxia Xing, David Steiner, Jingjing Ng, Michael W. Thomas, Richard E. Champlin, Paul J. Simmons, Nathalie Brouard, Shannon Kidd, Laurence Cooper, Elizabeth J. Shpall, Patrick A. Zweidler-McKay
Journal: Blood (2007)
Phase III Trial of Immunotherapy with Recombinant Interleukin-2 (rIL-2) Versus Observation in Patients &amp;lt; 60 Years with Acute Myeloid Leukemia (AML) in First Remission (CR1): Preliminary Results from Cancer and Leukemia Group B (CALGB) 19808.
Authors: Jonathan E. Kolitz, Vera Hars, Daniel J. DeAngelo, Steven L. Allen, Thomas C. Shea, Ravi Vij, Eva Hoke, Clara D. Bloomfield, Michael A. Caligiuri, Stephen L. George, Richard A. Larson
Journal: Blood (2007)
Hematopoietic Cell Preparation for Non-Hematopoietic Purposes: Methods and Results of GMP Validation
Authors: Elisa Montelatici, Tiziana Montemurro, Gabriella Andriolo, Francesca Chelli, Mariele Viganò, Valentina Parazzi, Gabriella Spaltro, Lorenza Lazzari, Paolo Rebulla, Rosaria Giordano
Journal: Blood (2010)
Osteopenia Is Commonly Present in Prepubertal Children with Severe Hb E/βthalassemia Despite Adequate Transfusion and Iron Chelation Therapy.
Authors: Vip Viprakasit, Pairunya Sawathiparnich, Tuangrat Sangpraypanm, Linda Weerakulwattana, Pornpimol Kiattisakthavee, Katharee Chaichanwatanakul, Natsawee Vatana
Journal: Blood (2007)
Efficacy and Safety of Deferasirox (Exjade®) in Patients with Transfusion- Dependent Anemias: Preliminary Results From the First, Retrospective, Multicenter Brazilian Study.
Authors: Rodolfo Cancado, Jose E. Nicolau, Antonio Fabron, Ana CCV França, Ivan L. Angulo, Denise Brunetta, Maria C. Favarin, Ana CS Pinto, Edna K. Carboni, Luciane Valdez, Silvia M. M. Magalhães, Clara MBE Costa, Ana ALB Araújo, Camila LNSO Moreira, Renato S. Tavares, Abrahão E. Hallack Neto, Clarisse Lobo, Viviani Pessoa, Carolina Cunha, Aderson Araújo, Jaqueline C. Peres, Sonia MP Cruz, Dario I. Nicolau, Aminadab F. Sousa, Victor H. R. L. Pereira, Denise Lehugeur, Liane Daudt, João R. Friedrisch, Lúcia MR Silla, Carlos Chiattone
Journal: Blood (2009)
Autologous Stem Cell Transplantation (ASCT) for Poor Prognosis Non Hodgkin Lymphomas (NHL).
Authors: Martha C. Nese, Cecilia Guillermo, Hugo Isaurralde, Lilian Diaz, Laura Topolansky, Juan Zunino, Susana Perdomo, Ana Perdomo, Graciela Lavagna, Andrea Diaz, Mariana Stevenazzi, Alberto Baubeta
Journal: Blood (2006)
Antileukemic Activity and Pharmacodynamics of Intravenous Forodesine (BCX-1777), a Novel Purine Nucleoside Phosphorylase (PNP) Inhibitor, in Phase I/II Trials in Patients with Advanced T-Cell Malignancies.
Authors: Luis Isola, Richard R. Furman, Varsha Gandhi, Deborah A. Thomas, J. Claude Bennett, Shanta Bantia, J. Michael Kilpatrick
Journal: Blood (2004)
A Deep Proteome Analysis Identifies the Complete Secretome as the Functional Unit of Human Cardiac Progenitor Cells
Authors: Sudhish Sharma, Rachana Mishra, Grace E. Bigham, Brody Wehman, Mohd M. Khan, Huichun Xu, Progyaparamita Saha, Young Ah Goo, Srinivasa Raju Datla, Ling Chen, Mohan E. Tulapurkar, Bradley S. Taylor, Peixin Yang, Sotirios Karathanasis, David R. Goodlett, Sunjay Kaushal
Journal: Circulation Research (2016)

Cardiac progenitor cells are an attractive cell type for tissue regeneration, but their mechanism for myocardial remodeling is still unclear.This investigation determines how chronological age influences the phenotypic characteristics and the secretome of human cardiac progenitor cells (CPCs), and their potential to recover injured myocardium.Adult (aCPCs) and neonatal (nCPCs) cells were derived from patients aged >40 years or <1 month, respectively, and their functional potential was determined in a rodent myocardial infarction model. A more robust in vitro proliferative capacity of nCPCs, compared with aCPCs, correlated with significantly greater myocardial recovery mediated by nCPCs in vivo. Strikingly, a single injection of nCPC-derived total conditioned media was significantly more effective than nCPCs, aCPC-derived TCM, or nCPC-derived exosomes in recovering cardiac function, stimulating neovascularization, and promoting myocardial remodeling. High-resolution accurate mass spectrometry with reverse phase liquid chromatography fractionation and mass spectrometry was used to identify proteins in the secretome of aCPCs and nCPCs, and the literature-based networking software identified specific pathways affected by the secretome of CPCs in the setting of myocardial infarction. Examining the TCM, we quantified changes in the expression pattern of 804 proteins in nCPC-derived TCM and 513 proteins in aCPC-derived TCM. The literature-based proteomic network analysis identified that 46 and 6 canonical signaling pathways were significantly targeted by nCPC-derived TCM and aCPC-derived TCM, respectively. One leading candidate pathway is heat-shock factor-1, potentially affecting 8 identified pathways for nCPC-derived TCM but none for aCPC-derived TCM. To validate this prediction, we demonstrated that the modulation of heat-shock factor-1 by knockdown in nCPCs or overexpression in aCPCs significantly altered the quality of their secretome.A deep proteomic analysis revealed both detailed and global mechanisms underlying the chronological age-based differences in the ability of CPCs to promote myocardial recovery via the components of their secretome.
Abstract 1090: Goal Attainment for LDL-C, HDL-C, Triglycerides, and All Lipids in U.S. Adults: National Health and Nutrition Examination Survey 2003–2004
Authors: Heli Ghandehari, Sachin Kamal-Bahl, Nathan D Wong
Journal: Circulation (2007)

Background: Recent U.S. population data are lacking regarding the achievement of recommended lipid levels according to demographic factors and comorbidities. We evaluated the extent of LDL-C, HDL-C, triglyceride, and overall lipid goal attainment in U.S. adults. Design, Setting, and Participants: Data analysis from adults aged ≥20 who had fasted for ≥8 hours (n=2987 representing 132.7 million) in the National Health and Nutrition Examination Survey 2003–2004, a representative cross-sectional survey of the non-institutionalized civilian U.S. population. Main Outcome Measures: The proportion of adults at recommended levels for LDL-C, HDL-C, triglycerides, and all lipids were examined by gender, age, ethnicity and the presence of cardiovascular disease (CVD), diabetes (DM) or metabolic syndrome (MetS). Goals were &lt;100 mg/dl for LDL-C for DM, CVD, or 2+ risk factors and &gt;20% 10-year risk for coronary heart disease (CHD), &lt;130 mg/dl if 2+ risk factors and ≤20% 10-year risk for CHD, or &lt;160 mg/dl if &lt;2 risk factors; ≥40 mg/dl (male) or ≥50 mg/dl (female) for HDL-C; and &lt;150 mg/dl for triglycerides. Results: The proportion at goal for LDL-C was 74.5%, HDL-C 73.2%, triglycerides 73.6%, and 47.5% for all lipids. Control of LDL-C and triglycerides was greater in females, and HDL-C greater in males. Mexican-Americans and persons with CVD, DM, or MetS were least likely to be at recommended levels (see Table ). Table . Proportion (%) of US adults 2003–2004 at recommended levels for LDL-C, HDL-C, triglycerides, and all lipids Conclusions: While three-fourths of U.S. adults are at recommended levels for LDL-C, HDL-C and triglycerides individually, less than half are at goal for all lipids. For persons with DM or CVD, only a third are at goal for LDL-C and only a sixth are at goal for all lipids. Improved treatment efforts to optimize goal attainment of all lipids are required.
Risk-Oriented Therapy for Myeloid Leukemia of Down Syndrome: A Nationwide Prospective Study By the Japanese Pediatric Leukemia / Lymphoma Study Group (JPLSG)
Authors: Takashi Taga, Tomoyuki Watanabe, Kazuko Kudo, Daisuke Tomizawa, Kiminori Terui, Hiroshi Moritake, Akitoshi Kinoshita, Shotaro Iwamoto, Hideki Nakayama, Hiroyuki Takahashi, Akira Shimada, Tomohiko Taki, Tsutomu Toki, Etsuro Ito, Hiroaki Goto, Katsuyoshi Koh, Akiko M. Saito, Keizo Horibe, Tatsutoshi Nakahata, Akio Tawa, Souichi Adachi
Journal: Blood (2014)
Abstract 17965: Bendopnea is a Marker of Elevated VE/VC02 Slope in Patients With Heart Failure
Authors: Jennifer T Thibodeau, Alberto Dominguez-Rodriguez, Pedro Abreu-Gonzalez, Alejandro Jimenez-Sosa, Juan M Aranda Jr, Mark H Drazner
Journal: Circulation (2015)

Introduction: In patients with advanced heart failure, shortness of breath while bending forwards, e.g. when putting on their shoes, is a recently described symptom termed “bendopnea”. Hypothesis: Whether bendopnea is associated with well validated markers of heart failure severity measured by cardiopulmonary exercise (CPX) testing, such as peak VO2 or VE/VCO2 slope, is not known. Methods: Bendopnea was assessed prior to a CPX in a prospective study of 95 subjects with systolic HF who were referred for functional evaluation. Standard CPX techniques were used including measurement of peak VO2 and VE/VCO2 slope. Multivariable linear regression analysis was performed to adjust the associations of bendopnea and CPX parameters for potential confounders. Results: The study cohort was predominantly male (72%), nonischemic cardiomyopathy (54%), NYHA class 3 or 4 (86%), with a mean age of 55 ± 14 years and LVEF 26 ± 4%. Bendopnea was present in 30 of 95 (31.5%) subjects. The association of bendopnea with key CPX parameters (Table) is shown. Peak VO2 was similar in both groups but patients with bendopnea had a higher VE/VCO2 slope (35.28 ± 2.72 vs 30.31 ± 6.41, P&lt; 0.001) and trended towards having a lower oxygen pulse. The association of bendopnea with VE/VCO2 slope persisted in multivariable analysis. Conclusions: Bendopnea was independently associated with elevated VE/VCO2 slope in advanced HF patients. These data suggest that bendopnea is a marker of HF disease severity.
Elevated Serum Ferritin Levels Are Highly Associated with Diabetes Mellitus and Hypothyroidism in Thalassemia Patients
Authors: Sasinee Hantrakool, Adisak Tantiworawit, Ekarat Rattarittamrong, Chatree Chai-adisaksopa, Weerasak Nawarawong, Somdet Srichairattanakool, Mattabhorn Phornphutkul, Lalita Norasetthada
Journal: Blood (2012)
Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome
Authors: Daniel C. Solis, Gina P. Kwon, Katherine J. Ransohoff, Shufeng Li, Harvind S. Chahal, Mina S. Ally, Marieke A. D. Peters, Kristi Schmitt-Burr, Joselyn Lindgren, Irene Bailey-Healy, Joyce M. Teng, Ervin H. Epstein, Jean Y. Tang
Journal: JAMA Dermatology (2016)

Patients with basal cell nevus syndrome (BCNS) have a greater risk of developing numerous basal cell carcinomas (BCCs). Risk factors influencing the wide variation in tumor burden are poorly understood.To describe the burden of BCCs in patients with BCNS in the United States and identify potential risk factors for BCCs.Prospective clinical registry with data collected from September 2014 to March 2016. Participants were recruited from a mailing list of patients with BCNS at Children's Hospital Oakland Research Institute and Basal Cell Carcinoma Nevus Syndrome Life Support Network. Patients of all ages with a diagnosis of BCNS were eligible for enrollment. Participants completed a clinical questionnaire on their disease characteristics and risk factors.Number of BCCs in the past 2 years and over lifetime (disease burden), risk factors for BCCs.A consecutive sample of the first 141 participants was included (34% [100 of 297] response rate from paper survey, 23% [41 of 179] from online survey; 85 [60%] female; mean age at start of study, 53 [range, 8-83] years; 131 [93%] white). In the previous 2 years, participants reported a mean of 25 BCCs (median, 11; range, 0-250). Over their lifetime, participants reported a mean of 257 BCCs (median, 160; range, 0-2200). Univariate analysis identified age (odds ratio [OR], 1.05; 95% CI, 1.03-1.07; P < .001), number of sunburns (OR, 1.05; 95% CI, 1.00-1.10; P = .047), and history of radiation exposure (OR, 2.26; 95% CI, 1.02-5.03; P = .046) as potential risk factors for lifetime BCC severity. On multivariate analysis, only age (OR, 1.04; 95% CI, 1.02-1.07; P < .001) and number of sunburns (OR, 1.06; 95% CI, 1.00-1.11; P = .04) were statistically significant. In our adjusted models, BCC burden increased by 4% per year of age and by 6% per number of sunburns.Patients with BCNS have a high burden of BCCs. Age and number of sunburns were significantly associated with the severity of lifetime BCC. Further interventions to prevent and treat BCCs in patients with BCNS are needed.
FLT3-ITD+ AML Blast, Progenitor and Stem Cell Populations Demonstrate Higher Sensitivity to the Hsp90 Inhibitor PU-H71,
Authors: Hongliang Zong, Tony Taldone, James H. Ahn, Sarah Brennan, Jeanne P. De Leon, Michael W. Becker, Gail J. Roboz, Gabriela Chiosis, Monica L. Guzman
Journal: Blood (2011)
Not every patient needs a triglyceride check, but all can get pancreatitis: a systematic review and clinical characterization of isotretinoin-associated pancreatitis
Authors: D. Opel, O.N. Kramer, M. Chevalier, M. Bigby, J. Albrecht
Journal: British Journal of Dermatology (2016)

Monitoring of triglycerides for patients on isotretinoin is practised primarily to avoid hypertriglyceridaemia-associated pancreatitis. The aim of this study was to describe clinically the published cases of hypertriglyceride-associated pancreatitis. A comprehensive search strategy using MEDLINE, Embase and grey literature was conducted (1960 to January 2016) to identify all case reports of isotretinoin-associated pancreatitis and all relevant studies of isotretinoin and triglycerides for any indication (≥ 20 patients). Terms related to isotretinoin, triglycerides and pancreatitis were searched with all available synonyms. Any studies that used isotretinoin and mentioned triglycerides or pancreatitis were searched in full text, where available, for cases of pancreatitis. Studies from all countries and published in any language were included, but Korean and Turkish studies could not be analysed. Two authors independently reviewed the publications to determine eligibility, and for data extraction. In total, 125 papers fulfilled the inclusion criteria and were searched for cases of pancreatitis. Eleven papers with 25 cases of pancreatitis associated with isotretinoin were identified; four of these cases were likely due to hypertriglyceridaemia. Three patients had elevated baseline triglycerides, but no monitoring. Pancreatitis occurred 6 and 7 weeks, and 6 months after initiation of therapy. For the fourth patient who was treated for glioblastoma and died, no detailed clinical information was available. Idiosyncratic pancreatitis associated with isotretinoin is the most frequent pancreatitis on isotretinoin, and patients should be warned about it. Hypertriglyceride-associated pancreatitis is an exceedingly rare adverse event of isotretinoin therapy. Our data cannot give a frequency or risk for either adverse event. Based on the clinical information of the patients available, we conclude that for patients without elevated baseline triglycerides, or risk thereof, monitoring of triglycerides during therapy is of little value.
Leptin and Adiponectin Blood Levels in Patients with Steady State Sickle Cell Disease Are Related to Chronic Hemolytic and Inflammatory Biomarkers
Authors: Alexandros Makis, Anna Challa, Freideriki Koutsouka, Eleftheria Hatzimichael, Xanthi Pliakou, Evangelos Briasoulis, Antigone Siamopoulou, Nikolaos Chaliasos
Journal: Blood (2012)
Late Relapse in Leukemia: Does the Niche Matter?
Authors: Paolo Bernasconi, Marina Boni, Paola Maria Cavigliano, Barbara Rocca, Rita Zappatore, Irene Dambruoso, Ilaria Giardini, Celeste Calvello, Marilena Caresana, Daniela Caldera, Anna Amelia Colombo, Manuela Santantonio, Francesco Ripamonti, Emilio Paolo Alessandrino
Journal: Blood (2012)