tbuckley/cabot-search huggingface dataset:
Transcriptomic Features and Deregulation of Genes Involved in Monopoiesis Influence Outcomes of Patients with Chronic Myelomonocytic Leukemia
Authors: Guillermo Montalban Bravo, Faezeh Darbaniyan, Rashmi Kanagal-Shamanna, Irene Ganan-Gomez, Koji Sasaki, Kiran Naqvi, Yue Wei, Hui Yang, Kelly A. Soltysiak, Kelly S. Chien, Carlos E. Bueso-Ramos, Hagop M. Kantarjian, Guillermo Garcia-Manero
Journal: Blood (2020)
Chidamide Plus R-GemOx(rituximab, gemcitabine and oxaliplatin) Regimen As Salvage Treatment for Transplant-Ineligible Patients with Relapsed/Refractory Diffuse Large B-Cell Lymphoma: A Preliminary Analysis of a Multicenter, Single Arm, Phase II Study
Authors: Qingqing Cai, Hui Zhou, Zhiming Li, Wenyu Li, Yudan Wu, Bingyi Wu, Hui Yang, Stephen Yang Liang, Ning Su, Panpan Liu, Xuanye Zhang, Yi Xia, Shuyun Ma
Journal: Blood (2020)
Abstract 261: Evaluating <i>MTCH2</i> as a Modifier of Cardiomyopathy
Authors: Julie A Fischer, Mattia Quattrocelli, Megan Puckelwartz, Matthew Wolf, Elizabeth M McNally
Journal: Circulation Research (2020)

Background: Cardiomyopathy is a highly heritable disorder that carries a significant risk for heart failure and arrhythmias. The onset, severity, and progression of cardiomyopathy is influenced by genetic variation, with the most common form of inheritance in familial cases being autosomal dominant. All inherited cardiomyopathies are characterized by variable penetrance and expressivity, which in part arises from additional genetic variation, known as genetic modifiers. Methods and Results: Broad genomic profiling of human cardiomyopathy cases identified enriched genetic variation in the gene MTCH2. Specifically, a loss of function variant was found to be enriched in patients with cardiomyopathy. MTCH2 single nucleotide polymorphisms have also been linked to obesity, underscoring a critical role for MTCH2 in metabolic regulation. MTCH2 encodes a mitochondrial carrier protein that has a role in regulating oxidative phosphorylation. In order to investigate fundamental mechanisms by which MTCH2 contributes to cardiac and metabolic phenotypes, we generated a knockdown model of the Drosophila MTCH2 ortholog, Mtch. This knockdown model mimics what is seen in human carriers with the heterozygous loss of function allele. In the Drosophila model, Mtch RNA was reduced by approximately half. We found that cardiac-specific Mtch deficiency in flies produced heart tube dilated and reduced function as well as a shortened life span, documenting a clear role for cardiac Mtch. Cardiac deficiency of Mtch increased circulating lactate levels in flies. Oxygen consumption was reduced in cardiac Mtch deficiency flies in the presence of glucose, but not palmitate. Thus, loss of Mtch2 alters oxygen consumption in a substrate dependent manner. Conclusions: We identified MTCH2 as a modifier of the cardiomyopathy phenotype in humans. Reduction of Mtch in flies resulted in impaired cardiac function and reduced oxygen consumption under certain metabolic condition. As failed hearts are more dependent on glycolysis, these data support that reduction of MTCH2 promotes heart failure and provides a mechanism by which MTCH2 acts as a deleterious genetic modifier in heart failure.
SAT0524 THE ROLE OF MEFV GENE SEQUENCING ON PREDICTING THE RISK AND DISEASE SEVERITY OF SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS
Authors: Linqing Zhong, Hongmei Song
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background:</h3> Genetically susceptibility was essential in pathogenesis of systemic juvenile idiopathic arthritis (SJIA). <h3>Objectives:</h3> To find out whether <i>MEFV</i> mutations contributed to the occurrence of SJIA and study the association of <i>MEFV</i> mutations with systemic juvenile idiopathic arthritis (SJIA) patients' disease severity. <h3>Methods:</h3> SJIA children diagnosed based on the ILAR criteria<sup>[1]</sup> and followed up for at least 6 months between January 2011 and July 2018 were enrolled. Meta-analysis was performed to evaluate the contribution of <i>MEFV</i> mutations to SJIA susceptibility. All included children were divided into three groups by presence and number of <i>MEFV</i> mutations, namely, those without <i>MEFV</i> mutation, the one mutation group, and those with more than one mutation. Demographic and clinical characteristics, as well as disease severity were compared among these groups. Disease severity was evaluated with the following three items, i.e., average duration of use of each drug, the proportion of disease activity duration and relative relapse rate. Kaplan-Meier curves and log rank test were used to estimate the probability of the first relapse. <h3>Results:</h3> Eighty-nine patients met the ILAR criteria, among which 55 patients were eligible for further analysis. The <i>MEFV</i> mutations of our subjects primarily existed in exons 2 and 3. No significant difference were found in frequency of each mutation between SJIA children and healthy controls. Meta-analysis demonstrated that M694V was a risk factor for SJIA (pooled OR: 7.13, 95% CI: 3.01-16.89). Comparing with the one mutation group, biologics were used more frequently in those without or with more than one mutation in <i>MEFV</i> (p=0.017). Moreover, the proportion of disease activity duration was significantly lower in the one mutation group than the other two groups (p=0.028 and 0.002 respectively). <h3>Conclusion:</h3> The mutation M694V in <i>MEFV</i> contributed to occurrence of SJIA. SJIA patients carrying one heterozygous mutation in <i>MEFV</i> tend to be less severe, which might be attributed to E148Q. <h3>References</h3> [1] Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, et al. International league of associations for rheumatology classification of juvenile idiopathic arthritis: Second revision, Edmonton, 2001. J Rheumatol. 2004;31(2):390-2. <h3>Disclosure of Interests:</h3> None declared
Effective Treatment of Cold Agglutinin Disease/Cold Agglutinin Syndrome with Ibrutinib: An International Case Series
Authors: Marit Jalink, Sigbjørn Berentsen, Jorge J. Castillo, Steven Treon, Bruno Fattizzo, Ramona Cassin, Masja De Haas, Andrea Patriarca, Shirley D'Sa, Josephine M.I Vos
Journal: Blood (2020)
Early Response to First-Line Anti–PD-1 Treatment in Hodgkin Lymphoma: A PET-Based Analysis from the Prospective, Randomized Phase II NIVAHL Trial
Authors: Conrad-Amadeus Voltin, Jasmin Mettler, Lutz van Heek, Helen Goergen, Horst Müller, Christian Baues, Ulrich Keller, Julia Meissner, Karolin Trautmann-Grill, Andrea Kerkhoff, Michael Fuchs, Stephanie Sasse, Bastian von Tresckow, Markus Dietlein, Peter Borchmann, Andreas Engert, Carsten Kobe, Paul J. Bröckelmann
Journal: Clinical Cancer Research (2020)

Abstract Purpose: A primary analysis of the ongoing NIVAHL trial demonstrated unexpectedly high interim complete response rates to nivolumab-based first-line treatment in early-stage unfavorable Hodgkin lymphoma. However, biomarkers such as metabolic tumor volume (MTV) or total lesion glycolysis (TLG) and their change under treatment (ΔMTV and ΔTLG), measured on PET, might provide additional relevant information for response assessment in this setting. Hence, the current analysis aimed to investigate early response to checkpoint inhibitor therapy beyond conventional criteria. Patients and Methods: NIVAHL is a prospective, randomized phase II trial that recruited between April 2017 and October 2018. Patients in arms A and B were assessed for early treatment response after two courses of doxorubicin, vinblastine, and dacarbazine with two concomitant nivolumab infusions per cycle (2 × N-AVD) and 4 × nivolumab, respectively. In the current analysis, we included all 59 individuals with PET images available to the central review panel for quantitative analysis before April 30, 2019. Results: At interim restaging, we determined a mean ΔMTV and ΔTLG of −99.8% each in arm A after 2 × N-AVD, compared with −91.4% and −91.9%, respectively, for treatment group B undergoing 4 × nivolumab. This high decrease in MTV and TLG was observed regardless of the initial lymphoma burden. Conclusions: Our study showed that nivolumab-based first-line treatment leads to rapid, near-complete reduction of tumor metabolism in early-stage unfavorable Hodgkin lymphoma. Thus, PET-derived biomarkers might allow reduction or even omission of chemotherapy and radiotherapy. Furthermore, MTV and TLG could be also used to optimize immune checkpoint-targeting treatments in other cancers.
OP0044 Epidemiology of vasculitis in three regions of europe
Authors: RA Watts, W Koldingsnes, H Nossent, MA Gonzalez-Gay, C Garcia-Porrua, G Bentham, SE Lane, DG Scott
Journal: Annals of the Rheumatic Diseases (2001)

<h3>Background</h3> The epidemiology of systemic vasculitis (SV) has been poorly documented. Development of accepted criteria and definitions by the ACR and Chapel Hill Consensus Conference (CHCC) permits comparison of data from different areas. We have reported that Wegener?s granulomatosis (WG) is more common in Norwich (UK) than Lugo (Spain).<sup>1</sup> <h3>Objectives</h3> Our aim was to extend our study comparing the epidemiology of WG, microscopic polyangiitis (MPA), polyarteritis nodosa (PAN), Churg Strauss syndrome (CSS) to include a population in the far north of Europe. <h3>Methods</h3> Adult patients with a new diagnosis of SV were prospectively identified in Tromsø, North Norway (population 371,000; latitude 70oN), Norwich (population 420,000; latitude 52oN), and Lugo, North West Spain (population 241,000; latitude 43oN) between 1988–98. WG, PAN and CSS were classified using the ACR (1990) criteria and MPA the CHCC definition. 95% confidence intervals (95% CI) were calculated using the Poisson distribution for the observed number of cases. <h3>Results</h3> The results are given in the Table 1. There were 56 patients from Tromso, 86 from Norwich and 41 from Lugo. In all areas and all disease categories the incidence was greater in men than women and peaked aged 65–74 years. <h3>Conclusion</h3> We conclude that the overall incidence and pattern of vasculitis in terms of age and sex distribution is similar in the three areas studied. MPA is more common and WG less common in Southern Europe, whilst CSS appears to be more common in Norwich. This study points to the importance of environmental and/or genetic factors in the pathogenesis of vasculitis. <h3>Reference</h3> Watts, <i>et al</i>. Ann Rheum Dis. 2001;60:170–2
Sociodemographic and Geographic Variation in Awareness of Stroke Signs and Symptoms Among Adults — United States, 2017
Authors: Sandra L. Jackson, Brian Legvold, Anjel Vahratian, Debra L. Blackwell, Jing Fang, Cathleen Gillespie, Donald Hayes, Fleetwood Loustalot
Journal: MMWR Morbidity and Mortality Weekly Report (2020)

Stroke is the fifth leading cause of death in the United States (1). In 2017, on average, a stroke-related death occurred every 3 minutes and 35 seconds in the United States, and stroke is a leading cause of long-term disability (1). To prevent mortality or long-term disability, strokes require rapid recognition and early medical intervention (2,3). Common stroke signs and symptoms include sudden numbness or weakness of the face, arm, or leg, especially on one side; sudden confusion or trouble speaking; sudden trouble seeing in one or both eyes; sudden trouble walking, dizziness, or loss of balance; and a sudden severe headache with no known cause. Recommended action at the first sign of a suspected stroke is to quickly request emergency services (i.e., calling 9-1-1) (2). Public education campaigns have emphasized recognizing stroke signs and symptoms and the importance of calling 9-1-1, and stroke knowledge increased 14.7 percentage points from 2009 to 2014 (4). However, disparities in stroke awareness have been reported (4,5). Knowledge of the five signs and symptoms of stroke and the immediate need to call emergency medical services (9-1-1), collectively referred to as "recommended stroke knowledge," was assessed among 26,076 adults aged ≥20 years as part of the 2017 National Health Interview Survey (NHIS). The prevalence of recommended stroke knowledge among U.S. adults was 67.5%. Stroke knowledge differed significantly by race and Hispanic origin (p<0.001). The prevalence of recommended stroke knowledge was highest among non-Hispanic White adults (71.3%), followed by non-Hispanic Black adults (64.0%) and Hispanic adults (57.8%). Stroke knowledge also differed significantly by sex, age, education, and urbanicity. After multivariable adjustment, these differences remained significant. Increasing awareness of the signs and symptoms of stroke continues to be a national priority. Estimates from this report can inform public health strategies for increasing awareness of stroke signs and symptoms.
Potential Role for Topical Antiandrogens in the Management of Acne Among Patients Receiving Masculinizing Hormone Therapy
Authors: Dustin H. Marks, Matthew D. Mansh
Journal: JAMA Dermatology (2020)

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 Dermatology 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 Dermatology journal
Developing a Simple Algorithm Based on Multiparameter Flow Cytometry for Fast Screening of Acute Promyelocytic Leukemia
Authors: Vitória Ceni Ceni, Katia B Pagnano, Gislaine B O Duarte, Marina DB Pellegrini, Bruno Kosa Duarte, Konradin Metze, Irene Lorand-Metze
Journal: Blood (2020)
Frontline Brentuximab Vedotin As Monotherapy or in Combination for Older Hodgkin Lymphoma Patients
Authors: Christopher A. Yasenchak, Rodolfo Bordoni, Dipti Patel-Donnelly, Timothy Larson, Jerome Goldschmidt, Ralph V. Boccia, Vivian J.M. Cline, Mariana Sacchi, Andres Forero-Torres, Robert B. Sims, Jingmin Liu, Jonathan W. Friedberg
Journal: Blood (2020)
Comparison of next-generation sequencing (NGS) and next-generation flow (NGF) for minimal residual disease (MRD) assessment in multiple myeloma
Authors: Alejandro Medina, Noemi Puig, Juan Flores-Montero, Cristina Jimenez, M.-Eugenia Sarasquete, María Garcia-Alvarez, Isabel Prieto-Conde, Carmen Chillon, Miguel Alcoceba, Norma C. Gutierrez, Albert Oriol, Laura Rosinol, Joan Bladè, Mercedes Gironella, Miguel T. Hernandez, Veronica Gonzalez-Calle, Maria-Teresa Cedena, Bruno Paiva, Jesus F. San-Miguel, Juan-Jose Lahuerta, Maria-Victoria Mateos, Joaquin Martinez-Lopez, Alberto Orfao, Marcos Gonzalez, Ramon Garcia-Sanz
Journal: Blood Cancer Journal (2020)

Abstract Detecting persistent minimal residual disease (MRD) allows the identification of patients with an increased risk of relapse and death. In this study, we have evaluated MRD 3 months after transplantation in 106 myeloma patients using a commercial next-generation sequencing (NGS) strategy (LymphoTrack®), and compared the results with next-generation flow (NGF, EuroFlow). The use of different marrow pulls and the need of concentrating samples for NGS biased the applicability for MRD evaluation and favored NGF. Despite that, correlation between NGS and NGF was high ( R 2 = 0.905). The 3-year progression-free survival (PFS) rates by NGS and NGF were longer for undetectable vs. positive patients (NGS: 88.7% vs. 56.6%; NGF: 91.4% vs. 50%; p &lt; 0.001 for both comparisons), which resulted in a 3-year overall survival (OS) advantage (NGS: 96.2% vs. 77.3%; NGF: 96.6% vs. 74.9%, p &lt; 0.01 for both comparisons). In the Cox regression model, NGS and NGF negativity had similar results but favoring the latter in PFS (HR: 0.20, 95% CI: 0.09–0.45, p &lt; 0.001) and OS (HR: 0.21, 95% CI: 0.06–0.75, p = 0.02). All these results reinforce the role of MRD detection by different strategies in patient prognosis and highlight the use of MRD as an endpoint for multiple myeloma treatment.
Trends in Positive <i>BRCA</i> Test Results Among Older Women in the United States, 2008-2018
Authors: Fangjian Guo, Matthew Scholl, Erika L. Fuchs, Rebeca Wong, Yong-Fang Kuo, Abbey B. Berenson
Journal: JAMA Network Open (2020)

<h3>Importance</h3> Genetic testing for<i>BRCA1/2</i>pathogenic variants has been used for targeted, individualized cancer prevention and treatment. A positive<i>BRCA</i>test result indicates a higher risk for developing<i>BRCA</i>-related cancers. During the past decade, testing criteria have loosened. The impact of these loosened criteria on<i>BRCA</i>testing in older women has not previously been studied. <h3>Objective</h3> To assess whether the rate of positive<i>BRCA</i>test results changed between 2008 and 2018 among older women in the United States. <h3>Design, Setting, and Participants</h3> This cross-sectional study used a 10% random sample of women 65 years of age or older from Optum's deidentified Integrated Claims-Clinical data set (2008-2018), a large national electronic health record data set. A total of 5533 women with<i>BRCA</i>test results from January 1, 2008, to March 31, 2018, were evaluated. <h3>Main Outcomes and Measures</h3> Annual percentage change in positive<i>BRCA</i>test results was evaluated. Multivariable logistic regression models were used to assess the association between positive test results and race/ethnicity, region of residence, income, educational level, and personal history of breast or ovarian cancer. <h3>Results</h3> Of 5533 women 65 years of age or older (mean age, 68.1 years [95% CI, 67.9-68.4 years]) who underwent<i>BRCA</i>testing from 2008 to 2018, most (4679 [84.6%]) were non-Hispanic White women, and 1915 (34.6%) resided in the Midwest. Positive<i>BRCA</i>test results decreased from 85.7% (36 of 42) in 2008 to 55.6% (140 of 252) in 2018 (annual percentage change, −2.55; 95% CI, −3.45 to −1.64). Among patients with breast or ovarian cancer, positive test results decreased from 83.3% (20 of 24) in 2008 to 61.6% (61 of 99) in 2018, while among women without breast or ovarian cancer, positive test results decreased from 87.5% (21 of 24) in 2008 to 48.4% (74 of 153) in 2018 (annual percentage change, −3.17 vs −2.49;<i>P</i> = .29). Women with positive test results were more likely to be non-Hispanic Black women, to live in the West or South, to live in areas with a low percentage of college graduates, or to not have a personal history of breast or ovarian cancer. <h3>Conclusions and Relevance</h3> This study suggests that there was a significantly decreasing rate of positive<i>BRCA</i>test results among women 65 years of age or older. Socioeconomic and regional disparities in testing use remain an issue.
Primary Analysis of Zuma-5: A Phase 2 Study of Axicabtagene Ciloleucel (Axi-Cel) in Patients with Relapsed/Refractory (R/R) Indolent Non-Hodgkin Lymphoma (iNHL)
Authors: Caron Jacobson, Julio C. Chavez, Alison R. Sehgal, Basem M. William, Javier Munoz, Gilles Salles, Pashna N. Munshi, Carla Casulo, David Maloney, Sven de Vos, Ran Reshef, Lori A. Leslie, Ibrahim Yakoub-Agha, Olalekan O. Oluwole, Henry C.H. Fung, Joseph D. Rosenblatt, John M. Rossi, Lovely Goyal, Vicki Plaks, Yin Yang, Jennifer Lee, Wayne Godfrey, Remus Vezan, Mauro P. Avanzi, Sattva S. Neelapu
Journal: Blood (2020)
A WT-1 and PRAME "Fast-DC" Immunotherapy As a Potential Post-Remission Strategy for AML
Authors: Yngvar Floisand, Iris Bigalke, Dag Josefsen, Silke Raffegerst, Frauke Schnorfeil, Richard Addo, Dolores J. Schendel, Kai Pinkernell, Gunnar Kvalheim
Journal: Blood (2020)
NON Cryopreserved Hematopoietic STEM CELLS to Autograft Patients with Lymphomas: A PAIR Matched Analysis Comparing a Single Center Experience to the Use of Cryopreserved STEM CELLS Reported to the EBMT Registry
Authors: Mohamed Amine Bekadja, Ariane Boumendil, Didier Blaise, Patrice Chevalier, Karl S Peggs, Gilles Salles, Sebastian Giebel, Jürgen Finke, William Arcese, Noel Milpied, Hervé Finel, Norbert Claude Gorin
Journal: Blood (2020)
Dulaglutide Treatment in Patients with Type 2 Diabetes and Moderate-to-Severe CKD Improves Kidney Fibrosis Biomarker Levels
Authors: Katherine R. Tuttle, Jonathan M. Wilson, Yanzhu Lin, Hui-Rong Qian, Federica Genovese, Morten A. Karsdal, Kevin L. Duffin, Fady T. Botros
Journal: Journal of the American Society of Nephrology (2020)
Carfilzomib-Induced Cardiotoxicity in an In Vivo Model of Aging
Authors: Panagiotis Efentakis, Garyfallia Psarrakou, Panagiota-Efstathia Nikolaou, Michael Chatzistefanou, Eleni-Dimitra Papanagnou, Efstathios Kastritis, Ioannis P. Trougakos, Meletios A Dimopoulos, Ioanna Andreadou, Evangelos Terpos
Journal: Blood (2020)
Influence of LDL-Cholesterol Lowering on Cardiovascular Outcomes in Patients With Diabetes Mellitus Undergoing Coronary Revascularization
Authors: Michael E. Farkouh, Lucas C. Godoy, Maria M. Brooks, G.B. John Mancini, Helen Vlachos, Vera A. Bittner, Bernard R. Chaitman, Flora S. Siami, Pamela M. Hartigan, Robert L. Frye, William E. Boden, Valentin Fuster
Journal: Journal of the American College of Cardiology (2020)
Outcome of Patients with Chronic Myeloid Leukemia in Lymphoid Blast Crisis (CML-LBC) and Philadelphia Chromosome (Ph)-Positive Acute Lymphoblastic Leukemia (ALL) Treated with Hyper-CVAD and Dasatinib
Authors: Kiyomi Morita, Hagop M. Kantarjian, Farhad Ravandi, Koji Sasaki, Nitin Jain, Marina Konopleva, Nicholas J. Short, Koichi Takahashi, Rita Khouri, Patrice Nasnas, Courtney D. DiNardo, Tapan M. Kadia, Guillermo Garcia-Manero, Naval Daver, Guillermo Montalban Bravo, Ghayas C. Issa, Jorge E. Cortes, Elias Jabbour
Journal: Blood (2020)
Anti-PD-1 Antibody (Sintilimab) Plus Histone Deacetylase Inhibitor (Chidamide) for the Treatment of Refractory or Relapsed Extranodal Natural Killer/T Cell Lymphoma, Nasal Type (r/r-ENKTL): Preliminary Results from a Prospective, Multicenter, Single-Arm, Phase Ib/II Trial (SCENT)
Authors: Yan Gao, Huiqiang Huang, Xiaoxiao Wang, Bing Bai, Liling Zhang, Yin Xiao, Xinxiu Liu, Wenyu Li, Wei Xu, Ru Feng, Yu Chen, Huijing Wu, Jibin Li, Xue Wu
Journal: Blood (2020)