tbuckley/cabot-search huggingface dataset:
AB0519 VITAMIN D CUT-OFF POINTS RELATED WITH CLINICAL FEATURES IN PATIENTSWITH ACTIVE LUPUS OR LUPUS NEPHRITIS
Authors: Renato Guzman, Luis Gabriel Piñeros, Maria Camila Mejia, Anibal Teheran, Luis Miguel Pombo, Vanessa Cadavid
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background:</h3> Vitamin D (25OHD) has immunomodulatory properties that can play a major role in patients with active lupus or lupus nephritis. His immunomodulatory function could be influenced by demographic factors, comorbidities (Charlson score), bone supplements, and other features. <h3>Objectives:</h3> We explored the association between the best 25OHD cut-off points and specific clinical features that were present in patients with active lupus or lupus nephritis. <h3>Methods:</h3> A retrospective descriptive research using clinical registers of patients diagnosed with systemic erythematosus lupus, attended in two rheumatology clinics was performed. A decisions tree model was used to identify the best cut-off points of 25OHD [ng/mL] and clinical features associated with active lupus (SLEDAI-2k &gt;6) or lupus nephritis. <h3>Results:</h3> We identified 81 patients, median age 41 years, women 91.3%. Active lupus and lupus nephritis were present in 69.1% and 29.6%, respectively. Median 25OHD was 26.49, without a difference at comparing with active lupus patients 24.85, but lower in lupus nephritis patients 21.50 (p: 0.015). Lupus nephritis was absent in patients with 25OHD cut-off points &gt;38.8 (alone) or ≤38.8 if they were older than &gt;57 years. Active lupus was always present in patients ≤44 years with <b>1.</b> High comorbidity or <b>2.</b> Low comorbidity plus cut-off point 25OHD &gt;35; in &gt;44 years, both a euthyroid state and the absence of bone supplements were present in patients with active lupus. <h3>Conclusion:</h3> Exist a strong relationship between vitamin D levels and LES activity. <h3>References</h3> [1] American College of Rheumatology. Guidelines for referral and management of systemic lupus erythematosus in adults. Arthritis Rheum. 1999 Sep;42(9):1785-96 [2] Simioni J, Heimovski F, Skare T. On lupus, vitamin D and leukopenia. 2016;56(3):206-211. [3] Guzman R.A, Piñeros L.G, Theran A, Flechas J, Mejía M. AB0795 Hypovitaminosis D and Calcium Intake of Adult Population in Bogota (DICAVITD). Ann Rheum Dis 2016;75:1175-. 1176. <h3>Acknowledgement:</h3> To Fundación Universitaria Juan N. Corpas <h3>Disclosure of Interests:</h3> None declared
Fabrication and multiscale characterization of 3D silver containing bioactive glass-ceramic scaffolds
Authors: Adam C. Marsh, Nathan P. Mellott, Natalia Pajares-Chamorro, Martin Crimp, Anthony Wren, Neal D. Hammer, Xanthippi Chatzistavrou
Journal: Bioactive Materials (2019)

In this work, we fabricated and characterized bioactive 3D glass-ceramic scaffolds with inherent antibacterial properties. The sol-gel (solution-gelation) technique and the sacrificial template method were applied for the fabrication of 3D highly porous scaffolds in the 58.6SiO2 - 24.9CaO - 7.2P2O5 - 4.2Al2O3 - 1.5Na2O -1.5K2O - 2.1Ag2O system (Ag-BG). This system is known for its advanced bioactive and antibacterial properties. The fabrication of 3D scaffolds has potential applications that impact tissue engineering. The study of the developed scaffolds from macro-characteristics to nano-, revealed a strong correlation between the macroscale properties such as antibacterial action, bioactivity with the microstructural characteristics such as elemental analysis, crystallinity. Elemental homogeneity, morphological, and microstructural characteristics of the scaffolds were studied by scanning electron microscopy associated with energy dispersive spectroscopy (SEM-EDS), transmittance electron microscopy (TEM), X-ray diffraction (XRD), X-ray photoelectron spectroscopy (XPS), Fourier transform infrared spectroscopy (FTIR), and UV-visible spectroscopy methods. The compressive strength of the 3D scaffolds was measured within the range of values for glass-ceramic scaffolds with similar compositions, porosity, and pore size. The capability of the scaffolds to form an apatite-like phase was tested by immersing the scaffolds in simulated body fluid (SBF) and the antibacterial response against methicillin-resistant Staphylococcus aureus (MRSA) was studied. The formation of an apatite phase was observed after two weeks of immersion in SBF and the anti-MRSA effect occurs after both direct and indirect exposure.
SP0057 EVERYTHING STARTS IN CHILDHOOD!
Authors: Berent J. Prakken
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background:</h3> While part of our future may be determined by our genes, the interaction of our immune system with the environment is crucial for the balance between health and disease. Most of these crucial interaction take place in the early years of life during which the developing immune system settles between self and non-self; danger and non danger or whatever paradigm you may want to apply. This early flexibility and early interactions between developing immunity and the environment hold the key for a health future; and ultimately will be the most effective way for true (very!) early prevention of chronic inflammatory disorders. <h3>Disclosure of Interests:</h3> None declared
Multiparametric MRI and Coregistered Histology Identify Tumor Habitats in Breast Cancer Mouse Models
Authors: Bruna V. Jardim-Perassi, Suning Huang, William Dominguez-Viqueira, Jan Poleszczuk, Mikalai M. Budzevich, Mahmoud A. Abdalah, Smitha R. Pillai, Epifanio Ruiz, Marilyn M. Bui, Debora A.P.C. Zuccari, Robert J. Gillies, Gary V. Martinez
Journal: Cancer Research (2019)

It is well-recognized that solid tumors are genomically, anatomically, and physiologically heterogeneous. In general, more heterogeneous tumors have poorer outcomes, likely due to the increased probability of harboring therapy-resistant cells and regions. It is hypothesized that the genomic and physiologic heterogeneity are related, because physiologically distinct regions will exert variable selection pressures leading to the outgrowth of clones with variable genomic/proteomic profiles. To investigate this, methods must be in place to interrogate and define, at the microscopic scale, the cytotypes that exist within physiologically distinct subregions ("habitats") that are present at mesoscopic scales. MRI provides a noninvasive approach to interrogate physiologically distinct local environments, due to the biophysical principles that govern MRI signal generation. Here, we interrogate different physiologic parameters, such as perfusion, cell density, and edema, using multiparametric MRI (mpMRI). Signals from six different acquisition schema were combined voxel-by-voxel into four clusters identified using a Gaussian mixture model. These were compared with histologic and IHC characterizations of sections that were coregistered using MRI-guided 3D printed tumor molds. Specifically, we identified a specific set of MRI parameters to classify viable-normoxic, viable-hypoxic, nonviable-hypoxic, and nonviable-normoxic tissue types within orthotopic 4T1 and MDA-MB-231 breast tumors. This is the first coregistered study to show that mpMRI can be used to define physiologically distinct tumor habitats within breast tumor models. SIGNIFICANCE: This study demonstrates that noninvasive imaging metrics can be used to distinguish subregions within heterogeneous tumors with histopathologic correlation.
Turning subtypes into disease axes to improve prediction of COPD progression
Authors: Junxiang Chen, Michael Cho, Edwin K Silverman, John E Hokanson, Greg L Kinney, James D Crapo, Stephen Rennard, Jennifer Dy, Peter Castaldi
Journal: Thorax (2019)

Chronic obstructive pulmonary disease (COPD) is an umbrella definition encompassing multiple disease processes. COPD heterogeneity has been described as distinct subgroups of individuals (subtypes) or as continuous measures of COPD variability (disease axes). There is little consensus on whether subtypes or disease axes are preferred, and the relative value of disease axes and subtypes for predicting COPD progression is unknown. Using a propensity score approach to learn disease axes from pairs of subtypes, we demonstrate that these disease axes predict prospective forced expiratory volume in 1 s decline and emphysema progression more accurately than the subtype pairs from which they were derived.
Abstract 9256: Improving the Sensitivity for Left Ventricular Hypertrophy in Obese Patients by Normalizing Electrocardiographic Criteria to Body Mass Index
Authors: Mauricio Anaya-Cisneros, Gabriel Purice, Jose L Cardenas-Garcia, Sula Mazimba, Ythan Goldberg
Journal: Circulation (2012)

Introduction: The electrocardiogram (ECG) has low sensitivity for the diagnosis of LVH in obese patients. We hypothesized that adjusting the voltage on ECG to body mass index (BMI) would increase the sensitivity in this population. Methods: From our institutional database we identified patients over age 35 who underwent ECG and transthoracic echocardiography within 6 months. Those with prolonged QRS duration, paced rhythm and significant acute cardiopulmonary disease were excluded. Three ECG criteria for LVH- Sokolow, Cornell and Romhilt-Estes- were compared to echocardiographically derived left ventricular mass index using the Devereux formula. LVH was defined as 134g/m 2 for men and 110 g/m 2 for women. We then performed an adjustment of individuals' summed ECG voltage for each criterion by normalizing to a BMI of 25 with the formula: Adjusted voltage = ECG voltage*BMI/25. Results: Of 476 patients studied (255 male, 221 female, mean age 62.5) 36.8% were obese (BMI≥30), and 41.7% had LVH based on echocardiogram (34.1% in the non-obese and 41.7% in the obese group). The sensitivity of all ECG criteria was lower in the obese population. The sensitivity for identifying LVH by Sokolow was 37.7 % vs. 25.0 %, by Cornell 47.7% vs. 41.1 and by Romhilt-Estes 54.6% vs. 37.5% for non-obese and obese patients, respectively (p&gt;0.05). Adjusted Sokolow augmented the sensitivity substantially in from 40.9% to 81.8% (p&lt;0.001) in men and from 14.7% to 38.2% (p=0.001) in women, respectively. Similarly, the adjusted Cornell criterion increased the sensitivity from 40.9% to 86.4% in men (p&lt;0.001) and 41.2% to 73.5% in women (p=&lt;0.001). Adjusted Romhilt-Estes did not show statistically different results. Overall accuracy was not significantly reduced with the adjusted ECG criteria. Conclusion: Normalizing Cornell and Sokolow criteria to the BMI significantly improves the sensitivity of ECG to identify LVH in obese patients.
SP0065 EULAR SCHOOL OF RHEUMATOLOGY 2019: A NEW ERA FOR EDUCATION
Authors: Annamaria Iagnocco
Journal: Annals of the Rheumatic Diseases (2019)

<h3></h3> The first strategic aim of EULAR for the period 218-2023 is to be the leading provider of education in Rheumatic and Musculoskeletal Diseases (RMDs). The benefits that the rheumatology community gets from high levels of education in the field of RMDs result in an increased knowledge of them as well as in the optimization of their management. This leads to a significant relief to the lives of people with RMDs. EULAR has traditionally been a strong supplier of education in rheumatology and the launch of the EULAR School of Rheumatology has further increased the EULAR"s educational offering and its quality, by providing tailored learning materials, improving access to high quality education in the field of RMDs and developing innovative learning methods and recognised EULAR certifications. The School of Rheumatology is as a fully integrated operational entity contained within EULAR which combines all educational offers, whether they are live courses, online courses, books, webinars or any other material, under one roof. In addition to the already existing offering, in the last years a team of experts in RMDs and with a solid experience in education has been working in the development of new activities and material addressed to rheumatologists, undergraduates, trainees, teachers, researchers, health professionals, and people with RMDs. Then, these new products, which integrate and further enrich the wide spectrum of existing offering, are tailored to the interests and fields of activity of different targets within the rheumatology community and are presented according to the most innovative educational methods. The use of a new learning management system which perfectly matches the current digital era, allows an optimized presentation and use of the new EULAR education opportunities. With the modern and rapid developments of the Rheumatology discipline, the EULAR School of Rheumatology is today taking its educational offerings, services and products to a global audience worldwide. <h3>Key Messages:</h3> The EULAR School of Rheumatology is an innovative educational model with new approaches, products and technologies which reflect the changing needs of the learners whether they are rheumatologists, undergraduates, trainees, teachers, researchers, health professionals, and people with RMDs. The EULAR School of Rheumatology represents a new era for education in RMDs. <h3>Disclosure of Interests:</h3> None declared
Abstract 19238: Effects of Aggressive and Venous Vasodilator Therapy (Super-fontan Strategy) in Chronic Fontan Patients
Authors: Shun Matsumura, Akiko Yana, Seiko Kuwata, Clara Kurishima, Hirofumi Saiki, Yoichi Iwamoto, Hirotaka Ishido, Satoshi Masutani, Hideaki Senzaki
Journal: Circulation (2017)

Background: Maintaining higher than normal central venous pressure (CVP) by altering venous characteristics is the body’s adaptive response allowing the establishment of Fontan circulation. However...
A VTA GABAergic Neural Circuit Mediates Visually Evoked Innate Defensive Responses
Authors: Zheng Zhou, Xuemei Liu, Shanping Chen, Zhijian Zhang, Yuanming Liu, Quentin Montardy, Yongqiang Tang, Pengfei Wei, Nan Liu, Lei Li, Ru Song, Juan Lai, Xiaobin He, Chen Chen, Guoqiang Bi, Guoping Feng, Fuqiang Xu, Liping Wang
Journal: Neuron (2019)
Mapping the global prevalence, incidence, and mortality of Plasmodium falciparum, 2000–17: a spatial and temporal modelling study
Authors: Daniel J Weiss, Tim C D Lucas, Michele Nguyen, Anita K Nandi, Donal Bisanzio, Katherine E Battle, Ewan Cameron, Katherine A Twohig, Daniel A Pfeffer, Jennifer A Rozier, Harry S Gibson, Puja C Rao, Daniel Casey, Amelia Bertozzi-Villa, Emma L Collins, Ursula Dalrymple, Naomi Gray, Joseph R Harris, Rosalind E Howes, Sun Yun Kang, Suzanne H Keddie, Daniel May, Susan Rumisha, Michael P Thorn, Ryan Barber, Nancy Fullman, Chantal K Huynh, Xie Kulikoff, Michael J Kutz, Alan D Lopez, Ali H Mokdad, Mohsen Naghavi, Grant Nguyen, Katya Anne Shackelford, Theo Vos, Haidong Wang, David L Smith, Stephen S Lim, Christopher J L Murray, Samir Bhatt, Simon I Hay, Peter W Gething
Journal: The Lancet (2019)

Since 2000, the scale-up of malaria control interventions has substantially reduced morbidity and mortality caused by the disease globally, fuelling bold aims for disease elimination. In tandem with increased availability of geospatially resolved data, malaria control programmes increasingly use high-resolution maps to characterise spatially heterogeneous patterns of disease risk and thus efficiently target areas of high burden.
PB2405 PHENOTYPES AND GENOTYPES OF HEMOGLOBINOPATHIES IN AZERBAIJAN
Authors: C. Asadov, G. Aliyeva, A. Mikayilzadeh, T. Mammadova, S. Gafarova, E. Abdulalimov, Y. Guliyeva
Journal: HemaSphere (2019)

Background: Azerbaijan is located in Transcaucasia, which is a high prevalent region of hemoglobinopathies. Besides β‐thalassemia, the local population is also known for the presence of α‐thalassemia and some hemoglobin variants. Several previous studies reported the incidences of α‐thalassemia and hemoglobin variants such as HbS, HbE and HbD, as well as incidence rate and mutation spectrum of β‐thalassemia in the local population. Nevertheless, these were mainly conducted in small study groups and they were limited on β‐globin genotyping, which necessitated a large‐scale screening and genotyping to reveal phenotypes and mutational background of all common hemoglobinopathies in Azerbaijan. Aims: The aim of our study was to screen a large sample of population in order to reveal the prevalence of thalassemias and variant hemoglobins as well as their mutational background in Azerbaijan. Methods: The sample group included 436,144 individuals (population = 9,982,952) applying for marriage certificate, which were screened via Thalassemia Prevention Program of Azerbaijan. Premarital screening of thalassemia is mandatory since 2015, covering almost all areas of the country. Total hemoglobin (Hb) levels, red blood cell indices and Hb pattern analysis were evaluated in all samples. Genotyping of selected samples were performed via reverse dot blot hybridization and sequencing techniques. Results: The screening of more than 4% of the population revealed following carrier frequencies of hemoglobinopathies: α‐thalassemia – 10.1%, β‐thalassemia – 3.71%, HbS – 0.082%, HbC – 0.382%, HbE – 0.087% and HbD Punjab – 0.068%. The frequency of α‐thalassemia was calculated via Hardy–Weinberg equation, based on the count of individuals with HbH. Genotyping of the carriers revealed 33 β‐thalassemia and 9 α‐thalassemia mutations. The most common β‐thalassemia mutations were frameshifts and mRNA processing mutations accounting for β 0 phenotype: Codon 8 [‐AA] – 34.7%, IVS‐II‐1 [G &gt; A] – 16.7%, IVS‐I‐110 [G &gt; A] – 9.7%, Codon 8/9 [+G] – 4.8%, and Codon 36/37 [‐T] – 4.3% (N = 1252). The most prevalent α‐thalassemia mutations, on the other hand, were deletions accounting for milder phenotype of HbH disease: 20.5 kb DEL – 43.8% and 3.7 kb DEL – 35.4% (N = 144). Summary/Conclusion: This is the largest study to date evaluating phenotypic and genotypic diversity of hemoglobinopathies in Azerbaijan, and we hereby provided the first report on carrier frequencies of hemoglobin variants in the country. The screening and genotyping results revealed that hemoglobinopathies are highly heterogenous in Azerbaijan. β‐Thalassemia, although accounts for a lower frequency comparing to α‐thalassemia, is associated with severe phenotypes, including the possibility of coinheritance with clinically significant variants as HbS and HbE.
High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing
Authors: Julien Lagarde, Barbara Uszczynska-Ratajczak, Silvia Carbonell, Sílvia Pérez-Lluch, Amaya Abad, Carrie Davis, Thomas R Gingeras, Adam Frankish, Jennifer Harrow, Roderic Guigo, Rory Johnson
Journal: Nature Genetics (2017)
PB2401 GENETICS OF IRANIAN ALPHA THALASSEMIA PATIENTS; COMPREHENSIVE ORIGINAL STUDY
Authors: M. Paridar, A. Khosravi, B. Keikhaei, G. Shariati
Journal: HemaSphere (2019)

Please indicate where the abstract has been published before: The full paper was published in Biochemical genetics journal Background: Alpha thalassemia is the most prevalent monogenic gene disorder in the world and especially in Mediterranean countries. In the current hematological phenotype of patients with different genotypes, and also the effect of missense mutations on the protein function and stability were evaluated in a large cohort study. Aims: To evaluate the genetics of large populations of Iranian alpha thalassemia patients Methods: One thousand five hundred and sixty subjects were participated in the study and divided into two groups; 259 normal subjects and 1301 alpha thalassemia carriers. Genomic DNA was extracted and analyzed using ARMS PCR, Multiplex Gap, and direct sequencing. The effects of single nucleotide change on the protein function and stability were predicted by free available databases of human polymorphisms. Results: Sixty‐three different genotypes were seen in the patients. The more prevalent was heterozygote form of ‐α3.7 (41.4%) followed by ‐α3.7 homozygote(11.6%) and ‐ ‐MED(3.8%). The significant differences were seen in mean hemoglobin level [F = 20.5, p &lt; 0.001] between the Alpha globin genotypes when adjusted for gender. Moreover, 28 different mutations were found in our study. A significant relationship was seen between ethnicity and the alpha globin mutation frequency X2 (df;8) = 38.36, p &lt;0.0001). Summary/Conclusion: Different genotypes could be displayed as different phenotypes. The mutation frequency distributions in our region are different from other parts of Iran. Significant differences are seen in the spectrum of mutation frequency between various ethnicity. Finally, some missense mutations maybe did not considerably effect on the proteins and could be a neutral mutation. image
Hyperglycemia as a prognostic factor in cancer.
Authors: Daniel Eduardo Levy, Adolfo B. Marantz, Jose Leonardo Niepomniszcze, Hector A Vicente, Gaston Flavio Martin Reinas
Journal: Journal of Clinical Oncology (2013)

e20715 Background: Cancer and diabetes are two diseases with great impact on global health. Evidence suggests that sustained hyperglycemia is associated with cancer prognosis and a greater risk of getting this disease. Numerous studies, including meta- analysis, sustain this correlation based on the theory that sustained hyperglycemia influences in abnormal cell growth as a cell stimulating factor and both pathologies share comorbid factors. Methods: we analyze in a descriptively and retrospective way our patients record in a clinical oncology service at the Bernardino Rivadavia Hospital, in a period from June 2008 to August 2011. In all 325 patients we identify : age, sex, neoplasic disease, stage of disease and quantitative glycemic status pre-treatment (to rule out the possible effects of chemotherapy on glycemia values). In the statistical analysis, patients were grouped according to their stage of cancer disease by AJCC TNM seventh edition and their serum glycemia values. Results: Out of 325 patients (N), 252 (77.5%) were female and 73 (22.5%) were male, the age range was 18 to 94 years with an average 61.82 years. .The discrimination of the sample by stage was: stage 1 (54 patients), stage 2 (88 patients), stage 3 (93 patients), stage 4 (90 patients). The media blood glucose by stage were for stage 1: 98 mg / dl, for stage 2: 98.7 m / dl, for stage 3: 102 mg / dl and for stage 4: 107 mg / dl, being under 110 mg / dl 12.5% of the patients in the stage 1, 14.3% of patients in stage 2, 14% of patients in stage 3 and 23.3% of patients in stage 4. Conclusions: Our observation allows us to orient ourselves to the correlation between hyperglycemic condition and prognosis of cancer.This correlation, while existing for all stages of cancer disease is most notorious for advanced metastatic stages (stage 4), and can be converted into a useful tool for the comprehensive assessment of patients.