tbuckley/cabot-search huggingface dataset:
Abstract 206: Serum Sitosterol Levels and ABCG5 and ABCG8 Genetic Mutations Among Japanese Dyslipidemic Subjects
Authors: Hayato Tada, Nobuko Kojima, Soichiro Usui, Masa-aki Kawashiri, Masayuki Takamura
Journal: Circulation Research (2020)

Background: Currently, serum concentrations of sitosterol above 10 μg/ml are considered to be one of the major diagnostic criteria of sitosterolemia. However, few data exist regarding the validation of this cutoff value from the viewpoint of predicting the presence of sitosterolemia with double pathogenic mutations in ABCG5 or ABCG8 genes. Methods: We retrospectively investigated consecutive 206 Japanese dyslipidemic subjects (mean age = 47 yr, male = 101) with the assessments of serum sitosterol level and the presence of ABCG5 or ABCG8 genetic mutations in our institute since 2009 to 2018. Exome lesions of those 2 genes were sequenced. We divided the subjects into 3 groups based on the number of pathogenic mutations in ABCG5 or ABCG8 genes. We compared serum lipids and serum sitosterol among those groups, and tried to validate the cutoff value discriminating patients of sitosterolemia with double mutations from others. Results: We identified 8 individuals with sitosterolemia with double mutations, 26 individuals with a single mutation, and 172 individuals without any mutations. Serum sitosterol level of patients with sitosterolemia with double mutations exhibited significantly higher than those of any other groups (52.0 vs. 7.9 μg/ml, p= 2.22х10 -6 , 52.0 vs. 2.8 μg/ml, p=2.275х10 -8 ). Under these conditions, a cutoff value of sitosterol 10 μg/ml could discriminate the patients with sitosterolemia with double mutations in ABCG5 or ABCG8 gene from no mutation carrier perfectly, although 6 heterozygous mutation carries exhibited sitosterol level greater than 10 μg/ml. Conclusion: A cutoff value of sitosterol 10 μg/ml was well validated as an essential part of diagnostic criterion for sitosterolemia.
AB0004 DETECTION OF THE SNP-SNP INTERACTIONS IN THE JUVENILE ARTHRITIS SUSCEPTIBILITY USING MDR ANALYSIS
Authors: Hanna Yatskiu, Nataliya Savina, Nataliya Nikitchenko, Tatyana Kuzhir, Alexandr Sukalo, Roza Goncharova
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background</h3> Juvenile idiopathic arthritis (JIA) is the most common chronic arthropathy of childhood which is considered to be a complex disease. The genes encoding HLA complex account for only 14% of the JIA risk. Hence, it is suggested that substantial role in genetic predisposition to JIA belongs to the non-HLA gene variations. <h3>Objectives</h3> The aim of the study was to estimate interactions between SNPs of the genes implicated in immune and inflammatory responses: <i>STAT4</i> (rs7574865), <i>CTLA4</i> (rs5742909), <i>MIF</i> (rs755622), <i>TRAF1/C5</i> (rs3761847), <i>RUNX3</i> (rs11249215) and their effect on the JIA susceptibility. <h3>Methods</h3> 119 patients diagnosed with JIA (mean age 8.48 ± 5.06), and 197 hospital controls with no signs of autoimmune or inflammatory diseases (mean age 14.19 ± 2.56) were included into the study. DNA extraction from peripheral blood samples was performed with phenol-chloroform method. SNPs were genotyped using the PCR-RFLP assay. Multifactor dimensionality reduction (MDR) analysis was performed using MDR 3.0.2 software package with the following configuration: attribute count range – from 1 to 5; cross-validation count – 10; track top models – 1000; search method configuration – exhaustive; ambiguous cell analysis – Fisher's exact test; ambiguous cell assignment – unclassified. The best model was selected on the basis of maximum crossvalidation consistency and testing balance accuracy values. <h3>Results</h3> Model-free nonparametric statistical approach of MDR analysis revealed the best model for JIA susceptibility prediction with cross-validation consistency of 9/10 and testing balanced accuracy of 0.5768. The model includes SNPs of <i>STAT4</i>, <i>TRAF1/C5</i> and <i>RUNX3</i> genes and is characterized by 0.6727 sensitivity; 0.7083 specificity, OR = 4.9921; 95%CI [2.4–10.20], p &lt; 0.0001. Gene-gene interaction analysis discovered three genotype combinations for higher JIA risk. The most statistically significant was: GA (<i>RUNX3</i> rs11249215), GT (<i>STAT4</i> rs7574865) and GG (<i>TRAF1/C5</i> rs3761847), OR = 2.92, combined entropy – 4.83%. Separate data analysis for males and females didn't show any statistically significant model of SNP interactions associated with JIA. However, <i>MIF</i> rs755622 with entropy of 2.92% was more informative in females, while <i>STAT4</i> rs7574865 with entropy value of 1.12% – in males. <h3>Conclusion</h3> MDR analysis of the JIA case-control data set identified a statistically significant high-order interaction of three polymorphisms: <i>STAT4</i> (rs7574865), <i>TRAF1/C5</i> (rs3761847), <i>RUNX3</i> (rs11249215). This combination may contribute to JIA genetic susceptibility in the Belarusian population. <h3>Disclosure of Interests</h3> None declared
Phase 3 Study of Lenalidomide (LEN) Vs Placebo in Non-Transfusion Dependent (TD) Low Risk Del(5q) MDS Patients - Interim Analysis of the European Sintra-REV Trial
Authors: Félix López Cadenas, Eva Lumbreras, Blanca Xicoy, Joaquín Sánchez, Rosa Coll, Bohrane Slama, Jose Angel Hernandez-Rivas, Sylvain Thepot, Teresa Bernal, Beatriz Arrizabalaga, Agnès Guerci-Bresler, Guillermo F Sanz, Joan Bargay, Maria Luz Amigo, Raquel de Paz, Benet Nomdedeu, Aristoteles Giagounidis, Uwe Platzbecker, Stefan Wickenhauser, Katharina S. Götze, Ali Arar, Jesus María Hernández Rivas, Pierre Fenaux, Consuelo Del Cañizo, Maria Diez-Campelo
Journal: Blood (2020)
Rituximab, Methotrexate, Procarbazine and Lomustine (R-MPL) for the Treatment of Primary CNS Lymphoma
Authors: Eyal Lebel, Neta Goldschmidt, Tali Siegal, Alexander Lossos, Moshe Gatt, Alexander Gural, Adir Shaulov, Revital Saban, David Lavie, Boaz Nachmias
Journal: Blood (2020)
Novel CAR T Modules (Tmod) to Target HLA-Class I Loss in Lymphoma
Authors: Agnes E. Hamburger, Breanna DiAndreth, Mark E. Daris, Melanie L. Munguia, Kiran Deshmukh, Jee-Young Mock, Grace E. Asuelime, Emily D. Lim, Michelle R. Kreke, Talar Tokatlian, David Maloney, William Y. Go, Alexander Kamb
Journal: Blood (2020)
Fresh Versus Cryopreserved Peripheral Stem Cell for Autologous Transplantation in Multiple Myeloma: An Analysis of Short-Term Outcomes
Authors: Jacinth Joseph, Vanessa Wookey, Brion Randolph, Jason C. Chandler, Dennis Marjoncu, Kori Holman, Deniscer Peeler, Michelle Armstrong, Yasser Khaled
Journal: Blood (2020)
SAT0002 Comparison of two exercise regimens in patients with ankylosing spondylitis
Authors: KK Trnavsky, Y Sulcova, J Knebortova
Journal: Annals of the Rheumatic Diseases (2001)

<h3>Background</h3> Exercise alone can produce adequate relief of symptoms in ankylosing spondylitisi (AS) and manipulative therapy has also been shown to improve range of movement in short ? time. <h3>Objectives</h3> To compare the effect of a dynamic individual rehabilition regimen with a simple conservative exercise regimen (exercies in goups). <h3>Methods</h3> Forty patients with established AS, mean age 51 years and mean disease duration 10 years were randomly assigned to group of 20 patients each. The treatment programme consisted of two thre ? months periods.: A. Intensive individual programme (assisted by an experienced physiotherapist) included thermotherapy. Soft techniques, relaxation of shortened muscles, breathing exercises. B. Current exercise programme in groups. Metrologic assessment and questionnaires were used to evaluate the activity of the process (BASDAI) and the functional handicap of the patient (BASFI). In the first group of patients both the programme A and B were applied. The second group underwent only programme B. After 3 months the therapeutic programmes in the two groups were exchanged. <h3>Results</h3> The combined exercise regimen involving individual therapeutic care resulted in improvement of parameters assessing spinal column mobility ? Schober ¨s distance, tips to the floor distance, incluination and retro ? and anteflexion of cervical column. The indicators of function and disease activity evaluated according to BASDAI and BASFI questionnaires showed also improvement but the differences did no reach statistical significance over the three-months period of follow-up. <h3>Conclusion</h3> Intensive individual exercise programme including soft techniques and relaxation of shortened muscles is more effective in AS than a conservative programme based on exercise in groups.
Recommendations for Follow-up Colonoscopy After Polypectomy
Authors: Cecelia Zhang, Adam S. Cifu, Amit Patel
Journal: JAMA (2020)

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Targeted Next Generation Sequencing Improves Diagnosis in Unclassifiable Leukemic Indolent B-Cell Non-Hodgkin Lymphoma and Identifies a Subset with Recurrent MYD88 Mutations in a Prospective Multicentre Study
Authors: Matthew J Cross, Grzegorz Pietka, Sarah Dunne, Leonora Conneely, Michael Hubank, Corinne De Lord, Michelle Furtado, Pawel Kaczmarek, Dima El-Sharkawi, Claire E. Dearden, Kabir Mohammed, Alan Stewart Dunlop, Ricardo Morilla, Karol Pal, Nikos Darzentas, David Gonzalez, Dorte Wren, Sunil Iyengar
Journal: Blood (2020)
Occurrence and Health Risks of Organic Micro-Pollutants and Metals in Groundwater of Chinese Rural Areas
Authors: Xuehua Li, Tian Tian, Xiaochen Shang, Ruohan Zhang, Huaijun Xie, Xuejian Wang, Hanwei Wang, Qing Xie, Jingwen Chen, Kiwao Kadokami
Journal: Environmental Health Perspectives (2020)

BACKGROUND: Groundwater is a main drinking-water source for Chinese rural residents.The overall pollution status of organic micropollutants (OMPs) and metals in the groundwater and corresponding health risks are unknown.OBJECTIVES: Our objective was to comprehensively screen for and assess the health risks of OMPs and metals in groundwater of rural areas in China where groundwater is used for drinking so as to provide a benchmark for monitoring and improving groundwater quality in future developments.METHODS: One hundred sixty-six groundwater samples were collected in the rural areas of China, and 1,300 OMPs and 25 metals were screened by GC-MS, LC-QTOF/MS, and ICP-MS analysis.To assess the noncarcinogenic and carcinogenic risks of the detected pollutants, missing toxicity threshold values were extrapolated from existing databases or predicted by quantitative structure-activity relationship (QSAR) models.Monte Carlo simulation was performed to account for uncertainties in the exposure parameters and toxicity thresholds.RESULTS: Two hundred thirty-three OMPs and 25 metals were detected from the 166 samples.The concentration summation for the detected OMPs ranged from 2.9 to 1:7 × 10 5 ng=L among the different sampling sites.Cumulative noncarcinogenic risks for the OMPs were estimated to be negligible.However, high metal risks were calculated in 23% of the sites.Forty-two carcinogens (including 38 OMPs) were identified and the cumulative carcinogenic risks in 34% of the sites were calculated to be >10 -4 (i.e., one excess cancer case in a population of 10 thousand people).The carcinogenic risks were estimated to be mainly associated with exposures to the metals, which were calculated to contribute 79% (0-100%) of the cumulative carcinogenic risks.DISCUSSION: The overall status of OMPs and metals pollution in the groundwater and the corresponding health risks were determined preliminarily, which may provide a benchmark for future efforts in China to ensure the safety of drinking water for the local residents in rural areas.The joint application of QSARs and Monte Carlo simulation provided a feasible way to comprehensively assess the health risks of the large and ever-increasing number of pollutants detected in the aquatic environment.
Glucagon-like Peptide-2 (GLP-2) Treatment Reduces Gvhd-Related Mortality in a Pre-Clinical Transplant Model Via Expansion of Macrophages with Tolerogenic Potential
Authors: David W Harle, Rodney J Macedo Gonzales, Felix D Rozenberg, Alexandra Matschiner, Rajat Bansal, Stephen M Lagana, Huihui Ma, Elisha Pinker, Kirubel S Belay, Ximi K Wang, Tiffany Thomas, Markus Y Mapara, Anne-Catrin Uhlemann, Yi Zhang, Ran Reshef
Journal: Blood (2020)
Genomic Analysis of Congenital Myeloid Sarcoma Identifies Significant Bone Marrow Involvement in the Absence of Morphologic Blasts
Authors: Jennifer Kamens, Jinjun Dang, Sarah Aldridge, Jing Ma, Yuanyuan Wang, Gang Wu, Vasiliki Leventaki, Susana C. Raimondi, Joy Nakitandwe, Alberto Pappo, Tanja Gruber
Journal: Blood (2020)
Predictors and Outcomes of Flares in Chronic Graft-Versus-Host Disease
Authors: Grigori Okoev, Daniel J. Weisdorf, John E Wagner, Bruce R. Blazar, Margaret L. MacMillan, Todd E. DeFor, Aleksandr Lazaryan, Najla H El Jurdi, Shernan G Holtan, Claudio G. Brunstein, Brian C. Betts, Takuto Takahashi, Veronika Bachanova, Erica D. Warlick, Armin Rashidi, Mukta Arora
Journal: Blood (2020)
Response to ‘Reduction in skin cancer diagnosis, and overall cancer referrals, during the COVID‐19 pandemic’
Authors: G. Murray, D. Roche, A. Ridge, C. Hackett, A.M. Tobin
Journal: British Journal of Dermatology (2020)

We read with interest the original article by Trettin et al., examining the life-changing impact of biologic therapies on patients with psoriasis. 1As they have demonstrated, the longterm psychological sequelae of psoriasis cannot be underestimated, even after successful treatment with biologic therapy.Our own experience from the Severe Psoriasis Service mirrors their findings.Despite skin clearanceachieving 100% improvement in Psoriasis Area and Severity Index and Dermatology Life Quality Index 0some patients have deeply entrenched protective behavioural patterns, such as isolation and social withdrawal, that have developed over years of social stigmatization and rejection. 2As newer biologic therapies become available with the promise of long-term clear skin, patients require ongoing psychological support to aid them in their transition to life without psoriasis.Early-onset disease (before 20 years) is significantly more associated with anxiety and depression than late-onset disease. 3Living with this chronic skin condition during these formative years was associated with an early 'pessimistic rejective character profile' and can in later life negatively affect education, career, relationships and family life. 4 What is clear is that effective treatments should be implemented early to reduce the long-term psychological consequences of living with chronic skin disease.
Group A Streptococcal Infections of the Skin and Pharynx
Authors: Georges Peter, Arnold L. Smith
Journal: New England Journal of Medicine (1977)

PharyngitisStreptococcal pharyngitis is a self-limited disease whose suppurative complications have been rare since the availability of antibiotics. In contrast, approximately 100,000 new cases of acute rheumatic fever occur each year.78 Rheumatic fever primarily afflicts those living in crowded cities under substandard conditions. Its infrequent occurrence in private practice is not only an inaccurate guide to its overall incidence but also an observation that preceded the discovery of penicillin.78EpidemiologyGroup A streptococci causing pharyngitis are spread by large airborne droplets. The acquisition rate in military barracks is inversely proportional to the distance between the bed . . .
A Phase 2 Double Blinded, Randomized Controlled Trial of Saroglitazar in Patients With Nonalcoholic Steatohepatitis
Authors: Mohammad Shadab Siddiqui, Michael O. Idowu, Deven Parmar, Brian B. Borg, Douglas Denham, Nicole M. Loo, Donald Lazas, Ziad Younes, Arun J. Sanyal
Journal: Clinical Gastroenterology and Hepatology (2020)
Transcriptional Control of HP1a By the RNA Binding Proteins Rbmx/L1 Maintain Chromatin State in Myeloid Leukemia
Authors: Diu T.T. Nguyen, Camila Prieto, Zhaoqi Liu, Justin Wheat, Alexendar Perez, Saroj Gourkanti, Timothy Chou, Ersilia Barin, Arthur Chow, James Taggart, Katerina Hoskova, Meera Dhodapkar, Alexandra Schurer, Trevor Stephen Barlowe, Ly Vu, Christina Leslie, Ulrich G. Steidl, Raul Rabadan, Michael G. Kharas
Journal: Blood (2020)
Management of Secondary Prevention in Venous Thromboembolism: Use of Reduced Doses of Rivaroxaban and Apixaban in Extended Therapy
Authors: Desiree Campoy, Katia Flores, Gonzalo Artaza, César A Velasquez, Tania Canals, Erik A Johansson, Agustí Peró, Jorge Sierra, Ramón Salinas, Pável E Olivera
Journal: Blood (2020)
FRI0191 Skin score in systemic sclerosis
Authors: PD Sampaio-Barros, EM Amstalden, AM Samara, JF Marques-Neto
Journal: Annals of the Rheumatic Diseases (2001)

<h3>Background</h3> <h3>Objectives</h3> To report the experience with the use of the Total Skin Score (TSS), in the original (OR-TSS) and modified (MR-TSS) Rodnan methods, in systemic sclerosis (SSc), analysing its clinical significance in the model of two (diffuse and limited) and three (diffuse, intermediate and limited) subgroups. <h3>Methods</h3> Prospective study analysing skin thickness (assessed using the original and modified Rodnan TSS methods) in 56 patients with SSc. TSS results were compared with SSc clinical variants (divided in the model of two and three subgroups), pathological findings observed in standardised skin biopsies and cutaneous (calcinosis, telangiectasias, pigmentary abnormalities), systemic (articular, vascular, esophageal, pulmonary, cardiac, renal) and laboratory (antinuclear antibody, anticentromere antibody, anti-topoisomerase I antibody) manifestations. Data were analysed on the basis of whether patients had a low TSS (= &lt; 20) or a high TSS (&gt; 20), in both methods. Logistic regression analysis was performed to determine the independent variables that influenced TSS (in the two methods) and death (after a 5-year follow-up). <h3>Results</h3> There was statistical association between TSS = &lt; 20 and limited SSc (both methods, in the SSc model of two subgroups)), grade I skin biopsy (OR-TSS) and calcinosis (MR-TSS). The TSS &gt; 20 was associated with diffuse SSc (in the SSc models of two and three subgroups), pigmentary abnormalities and articular involvement (both methods) and grade II and III skin biopsy (OR-TSS). There was a statistical trend between TSS = &lt; 20 and calcinosis and anticentromere antibody (OR-TSS), as well as between TSS &gt; 20 and pulmonary restrictive disease (MR-TSS) and anti-topoisomerase I antibody (OR-TSS). The multivariate logistic regression analysis indicated that the clinical variant was the most important factor that influenced significantly TSS (in both methods). In the SSc model of two subgroups, the diffuse variant was associated with TSS &gt; 20 (both TSS methods) and pigmentary abnormalities, with a statistical trend related to pulmonary restrictive disease and anti-topoisomerase-I antibody, whereas the limited variant was associated with TSS = &lt; 20, calcinosis and anticentromere antibody. In the SSc model of three subgroups, the diffuse variant was associated with TSS &gt; 20 (both TSS methods) and pigmentary abnormalities, whereas the limited variant was associated with grade I skin biopsy; the intermediate variant was associated with calcinosis and telangiectasias. After a 5-year follow-up, there were 20 deaths (35.7%); the multivariate logistic regression analysis indicated that the vascular involvement influenced significantly death, despite the TSS score. <h3>Conclusion</h3> TSS, in both original and modified Rodnan methods, represents an useful tool in the management of the skin involvement in SSc, permitting to differentiate distinct patterns in the clinical spectrum of the disease.
Further Investigation of Representation of Women as Authors of Rheumatology Articles From 2005 to 2020: Comment on the Article by Bagga et al
Authors: Jennifer Velasco, Shikha Singla, Michael Putman, Abigail A. Thorgerson, Elizabeth Suelzer, Courtney B. Crayne
Journal: Arthritis & Rheumatology (2020)

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Discordances between Immunofixation (IFx) and Minimal Residual Disease (MRD) Assessment with Next-Generation Flow (NGF) and Sequencing (NGS) in Patients (Pts) with Multiple Myeloma (MM): Clinical and Pathogenic Significance
Authors: Sara Rodríguez, Ibai Goicoechea, Katerina Gemenetzi, Cirino Botta, Andreas Agathangelidis, Noemi Puig, María Teresa Cedena, Alejandro Medina, Rafael Valdés-Mas, Juan José Garcés, José J Pérez, Leire Burgos, María José Calasanz, Diego Alignani, Amaia Vilas-Zornoza, Sarvide Sarai, Felipe Prosper, Jose Angel Martinez-Climent, Alberto Orfao, Ramón García-Sanz, Ana Jiménez Ubieto, Joaquin Martinez Lopez, Juan Jose Lahuerta, Laura Rosinol, Joan Bladé, María-Victoria Mateos, Anastasia Chatzidimitriou, Jesus F. San-Miguel, Bruno Paiva
Journal: Blood (2020)
Efficacy of Tubulin Polymerization Inhibitor in Myelodysplastic Syndrome
Authors: Cheng Zhong, Kensuke Kayamori, Shuhei Koide, Daisuke Shinoda, Motohiko Oshima, Yaeko Nakajima-Takagi, Yurie Nagai, Naoya Mimura, William Lennox, Josephine Sheedy, Marla Weetall, Atsushi Iwama
Journal: Blood (2020)
Interrogation of Dysregulated Pathways Enables Precision Medicine in Mantle Cell Lymphoma
Authors: Yang Liu, Shuangtao Zhao, Changying Changying Jiang, Yixin Yao, Joseph McIntosh, Alexa A Jordan, Yijing Li, Yuxuan Che, Preetesh Jain, Linghua Wang, Michael Wang
Journal: Blood (2020)
LOXO-305, A Next Generation, Highly Selective, Non-Covalent BTK Inhibitor in Previously Treated Mantle Cell Lymphoma, Waldenström's Macroglobulinemia, and Other Non-Hodgkin Lymphomas: Results from the Phase 1/2 BRUIN Study
Authors: Michael Wang, Nirav N. Shah, Alvaro J. Alencar, James N. Gerson, Manish R. Patel, Bita Fakhri, Wojciech Jurczak, Xuan Ni Tan, Katharine L Lewis, Timothy S. Fenske, Catherine C. Coombs, Ian W. Flinn, David John Lewis, Steven Le Gouill, M. Lia Palomba, Jennifer A. Woyach, John M. Pagel, Nicole Lamanna, Jonathon B. Cohen, Minal Barve, Paolo Ghia, Toby A. Eyre, Ming Yin, Binoj Nair, Donald Tsai, Nora C. Ku, Anthony Mato, Chan Yoon Cheah
Journal: Blood (2020)
Dabigatran Etexilate in Children with Venous Thromboembolism: Results of the Open-Label, Phase IIb/III, Randomized Diversity Clinical Trial
Authors: Jacqueline Halton, Leonardo R. Brandao, Matteo Luciani, Lisa Bomgaars, Elizabeth Chalmers, Lesley Mitchell, Ildar Nurmeev, Anjali Sharathkumar, Pavel Svirin, Kirill Gorbatikov, Igor Tartakovsky, Monika Simetzberger, Fenglei Huang, Zhichao Sun, Jörg Kreuzer, Savion Gropper, Martina Brueckmann, Manuela Albisetti
Journal: Blood (2020)
Mgta-145 / Plerixafor-Mediated HSC Mobilization and Intravenous HDAd5/35++ Vector Injection into Mice Allows for Efficient In Vivo HSC Transduction and Stable Gene Marking in Peripheral Blood Cells of CD46-Transgenic and Thalassemia Mice
Authors: Chang Li, Sucheol Gil, Kevin A. Goncalves, John C. Davis, Hans-Peter Kiem, Andre Lieber
Journal: Blood (2020)