tbuckley/cabot-search huggingface dataset:
PB2436 PLATELET GLYCOPROTEIN (GP IIB/IIIA) GENE POLYMORPHISM AS A RISK FACTOR FOR ISCHEMIC CEREBRO VASCULAR STROKE
Authors: D.A.E. Saad Abdelhamid, F.M. Attia, A.O. Hosny, M. Abdelfatah Elsamahy, G.A. Ibrahiem, M.A.S. Abdelhamid
Journal: HemaSphere (2019)

Background: Recent data which indicate considerable variability in platelet phenotype which accounts for differences in platelet surface receptor function, count and reactivity with subsequent thrombotic events. The identification of a contribution by platelet glycoproteins polymorphism to Ischemic cerebrovascular stroke which is a multifactorial, polygenic pathological process is challenging. Aims: Assessment of the genetic platelet glycoprotein (GPIIb/IIIa) polymorphism, as a genetic risk factor in ischemic cerebrovascular stroke patients in Ismailia, Egypt. Methods: Study population included: Fifty adult ischemic cerebrovascular stroke patients (acute, recent or old) and fifty‐healthy control group matching the patients group. Hematological and biochemical; Molecular assessment included DNA extraction and purification using micro‐centrifugation technique were done. DNA amplification was carried out by PCR‐RFLP technique. Genotypic determination of the platelet GPIIb/IIIa genotypes was carried out using agarose gel electrophoresis of the PCR products after endonuclease restriction with enzyme Msp‐I. Results: Platelet glycoprotein GP IIIa (PlA2/A2) genotypic distribution showed a statistically significant difference in ischemic cerebrovascular stroke patients in comparison with the healthy matched controls ( the control group: GPIIIa (PlA1/PlA1: homozygous) 82%, GPIIIa (PlA1/PlA2 heterozygous) 16%, GPIIIa (PlA1/PlA1), and GPIIIa (PlA2/PlA2 homozygous) 2%. While the patients group: GPIIIa (PlA1/PlA1: homozygous) 58%, GPIIIa (PlA1/PlA2 heterozygous) 32%, GPIIIa (PlA1/PlA1), and GPIIIa (PlA2/PlA2 homozygous) 10%. There were statistically significant differences in between study groups regarding Platelet GP IIIa (PlA2/A2)genotypes, smoking, hypertension, diabetes, and dyslipidaemia; dyslipidaemia showed the highest odds ratio of all the risk factors. Summary/Conclusion: Conclusions: In this population, the genetic platelet glycoprotein GPIIIa (PlA1/PlA2) polymorphism is a reliable and significant predictor biomarker in the prediction of ischemic cerebrovascular stroke and the platelet glycoprotein GPIIIa (PlA2/PlA2) mutant allele was identified as a risk factor ischemic cerebrovascular stroke. image
Inherited IL-18BP deficiency in human fulminant viral hepatitis
Authors: Serkan Belkaya, Eleftherios Michailidis, Cecilia B. Korol, Mohammad Kabbani, Aurélie Cobat, Paul Bastard, Yoon Seung Lee, Nicholas Hernandez, Scott Drutman, Ype P. de Jong, Eric Vivier, Julie Bruneau, Vivien Béziat, Bertrand Boisson, Lazaro Lorenzo-Diaz, Soraya Boucherit, Mylène Sebagh, Emmanuel Jacquemin, Jean-François Emile, Laurent Abel, Charles M. Rice, Emmanuelle Jouanguy, Jean-Laurent Casanova
Journal: The Journal of Experimental Medicine (2019)

Fulminant viral hepatitis (FVH) is a devastating and unexplained condition that strikes otherwise healthy individuals during primary infection with common liver-tropic viruses. We report a child who died of FVH upon infection with hepatitis A virus (HAV) at age 11 yr and who was homozygous for a private 40-nucleotide deletion in IL18BP, which encodes the IL-18 binding protein (IL-18BP). This mutation is loss-of-function, unlike the variants found in a homozygous state in public databases. We show that human IL-18 and IL-18BP are both secreted mostly by hepatocytes and macrophages in the liver. Moreover, in the absence of IL-18BP, excessive NK cell activation by IL-18 results in uncontrolled killing of human hepatocytes in vitro. Inherited human IL-18BP deficiency thus underlies fulminant HAV hepatitis by unleashing IL-18. These findings provide proof-of-principle that FVH can be caused by single-gene inborn errors that selectively disrupt liver-specific immunity. They also show that human IL-18 is toxic to the liver and that IL-18BP is its antidote.
FRI0258 ANTI-RO/SSA POSITIVITY, ANTI-AQUAPORIN4 ANTIBODIES AND CENTRAL NERVOUS SYSTEM INVOLVEMENT: A RETROSPECTIVE STUDY ON A CONTROVERSIAL CORRELATION
Authors: Erika Zecca, Mattia Bellan, Domizia Vecchio, Cristoforo Comi, Daniele Soddu, Alessandro Croce, Mario Pirisi, Pierpaolo Sainaghi
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background:</h3> Different neurological manifestations have been observed in 20-25% of patients affected by Sjögren's syndrome (SS). Among them, CNS demyelinating diseases, Neuromyelitis optica (NMO) and NMO spectrum disorders (NMOSD) with anti-aquaporin4 antibodies (anti-AQP4) positivity have been described. <h3>Objectives:</h3> The aim of the present study was to assess the clinical charachteristics and seroimmunological correlations in patients with Ro-SSA antibodies and Central and peripheral nervous system (CNS and PNS) involvement. <h3>Methods:</h3> We retrospectively reviewed clinical records, laboratory and Magnetic Resonance Imaging (MRI) reports of patients followed-up at a tertiary level immunorheumatology and neuroimmunology clinic. We included patients showing an anti-SSA antibodies positivity and concomitant neurological symptoms at diagnosis. We excluded patients fulfilling SLICC criteria for SLE. We recorded clinical and laboratory and MRI data for all patients. <h3>Results:</h3> Out of 9598 clinical records reviewed, we identified 511 patients with anti Ro/SSA positivity. 11 patients had prevalent neurological manifestations. 8 (72.7%) patients were women. The median age was 56 [IQR 31] years. CNS involvemente was the main clinical feature in 7 patients (63.6%); 3 of them (27.3%) also had PNS manifestations. 4 patients showed exclusively PNS involvement. 3 subjects fulfilled criteria for SS while 8 patients were classified as undifferentiated connective tissue disease. 7 patients underwent spinal tap which reported inflammatory alterations (high levels of CSF proteins in 2 subjects and oligoclonal bands in 4 patients). Median Erythrocyte sedimentation rate (ESR) was 12 mm/h [IQR 18] while median C- Reactive protein was 0.34 mg/dL [IQR 0.32]. There was not complement deficiency in any patient. With regard to the tested autoantibodies, 2 subjects showed also anti-La positivity. Out of the 4 patients tested for anti-AQP4 none was positive, even if 2 patients had NMODSD. <h3>Conclusion:</h3> Anti-SSA positive may show a wide spectrum of neurological manifestations; CNS involvement was not associated to anti-AQP4 positivity in our cohort, even in patients with NMO/NMOSD. Further investigations are required to better disclose this association and to search for novel autoantibodies. <h3> Disclosure of Interests:</h3> None declared
Nerve modulation therapy in gouty arthritis: targeting increased sFRP2 expression in dorsal root ganglion regulates macrophage polarization and alleviates endothelial damage
Authors: Jingtian Mei, Feng Zhou, Han Qiao, Hanjun Li, Tingting Tang
Journal: Theranostics (2019)

Gouty arthritis (GA) is a form of arthritis caused by uric acid deposition in the joints that result in intense inflammation and pain. Accumulating evidence showed the importance of the sensory neurons signal upon immune cells by releasing neuropeptides and chemokines to regulate associated immune-inflammatory response. In this study, we investigated the significance of sensory neuron neuropeptides and chemokine signals on inflammation-induced macrophages polarization during GA. Methods: We screened the mRNA expression profile during GA in dorsal root ganglion (DRG) neurons to identify the most likely candidate that mediates the neuro-immune communication. Then, we silenced specific gene expression in the DRG by lentiviral vectors in the monosodium urate (MSU)-induced ankle GA mouse model and evaluated alterations in the inflammatory response. In vitro, primary macrophages were used to investigate the neural impact on M1/M2 subtype polarization, proinflammatory cytokine production and downstream endothelial damage. Mechanism by which macrophage inflammation is induced in the DRG was evaluated by Western blot, immunofluorescence, and immunoprecipitation. Results: We found that secreted frizzled-related protein 2 (sFRP2) was the most upregulated gene in dorsal root ganglion (DRG) neurons in response to monosodium urate (MSU) deposition. Injection of LV-sFRP2-shRNA into the L4 and L5 DRG significantly suppressed inflammatory cell infiltration and M1 polarization in the synovial membrane, attenuating hyperalgesia and ankle swelling in the GA mouse model. In vitro, DRG neurons-derived sFRP2 promoted M1 polarization and macrophage migration, thereby upregulating the production of proinflammatory cytokines and preventing endothelial apoptosis. Furthermore, DRG-derived sFRP2 activated the nuclear factor (NF)-κB pathway by destabilizing the β-catenin and p65 complex. Conclusion: We demonstrated the involvement of a sensory neuron-macrophage axis in GA pathology that was regulated by sFRP2 expression in a paracrine manner. Targeting increased sFRP2 expressions in DRG provide novel insights for future GA research in both pain alleviation and treatment of gout inflammation.
Adenosine Deaminase Diagnostic Testing in Pericardial Fluid
Authors: Edward Chau, Minoo Sarkarati, Brad Spellberg
Journal: JAMA (2019)

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Abstract 12139: Postoperative Atrial Fibrillation Occurs in Two Distinct Phases After Cardiac Surgery
Authors: Spencer J Melby, Desiree J Picone, Jerald P Wallace, David C McGiffin, James F George, James K Kirklin, William L Holman, Louis A Brunsting, James E Davies
Journal: Circulation (2013)

Purpose: New onset postoperative atrial fibrillation (POAF) is a common complication of cardiac surgery associated with increased morbidity, mortality, and cost of care. However, a time-related ris...
OP0208 EFFECT OF SERUM URATE LOWERING WITH ALLOPURINOL ON BLOOD PRESSURE IN YOUNG ADULTS
Authors: Angelo Gaffo, David Calhoun, Elizabeth Rahn, Suzanne Oparil, Paul Muntner, LI Peng, David Redden, Tanja Dudenbostel, Jeff Foster, Stephanie Biggers, Daniel Feig, Kenneth Saag
Journal: Annals of the Rheumatic Diseases (2019)

predetermined a=0.1).Least squares (LS) mean% change in eGFR at 24 weeks from baseline was -1.73% for verinurad/febuxostat vs +0.55% for placebo (p=0.71).LS mean% change in sUA was -57% in the verinurad/febuxostat vs an increase of 7% in the placebo group at 12 weeks (p<0.0001).This effect was sustained at 24 weeks (62% reduction with verinurad/febuxostat vs 5% increase with placebo; p<0.0001).Excluding patients with prior gout avoided the need to administer gout prophylaxis, and only one gout flare-up (3%) was reported in the verinurad/ febuxostat group.Most adverse events (AEs) observed were mild to moderate.AEs reported in more than one patient on active treatment were diarrhoea, dizziness, and nasopharyngitis.Conclusion: Treatment with verinurad + febuxostat significantly reduced hyperuricemia and albuminuria in patients with T2DM.The effect was rapid, and the improvement was sustained through Week 24, suggesting that an intensive uratelowering strategy that combines a URAT1 inhibitor with a xanthine oxidoreductase inhibitor may protect against the progression of diabetic kidney disease.Further studies are planned to confirm the efficacy of a verinurad-led urate-lowering strategy in preventing CKD progression.
The proBAM and proBed standard formats: enabling a seamless integration of genomics and proteomics data
Authors: Gerben Menschaert, Xiaojing Wang, Andrew R. Jones, Fawaz Ghali, David Fenyö, Volodimir Olexiouk, Bing Zhang, Eric W. Deutsch, Tobias Ternent, Juan Antonio Vizcaíno
Journal: Genome biology (2018)

On behalf of The Human Proteome Organization (HUPO) Proteomics Standards Initiative, we introduce here two novel standard data formats, proBAM and proBed, that have been developed to address the current challenges of integrating mass spectrometry-based proteomics data with genomics and transcriptomics information in proteogenomics studies. proBAM and proBed are adaptations of the well-defined, widely used file formats SAM/BAM and BED, respectively, and both have been extended to meet the specific requirements entailed by proteomics data. Therefore, existing popular genomics tools such as SAMtools and Bedtools, and several widely used genome browsers, can already be used to manipulate and visualize these formats "out-of-the-box." We also highlight that a number of specific additional software tools, properly supporting the proteomics information available in these formats, are now available providing functionalities such as file generation, file conversion, and data analysis. All the related documentation, including the detailed file format specifications and example files, are accessible at http://www.psidev.info/probam and at http://www.psidev.info/probed .
Regulation of the cell cycle progression of A549 human lung cancer cell treatment by major paprica carotenoids elements capsanthin, capsorubin and beta-carotene
Authors: Harukuni Tokuda, Fumio Enjo, Takashi Maoka, Kooichi Mochida, Masashi Kuchide, Masakazu Ogata, Teruo Mukainaka, Hiroshi Higashihara, Junko Takayasu, Hoyoku Nishino
Journal: Cancer Research (2004)

1374  Ripe fruits of red paprik(Capsicum annuum L.) are used widely as vegetables and food colorants, which are good source of carotenoid pigments. The red carotenoids in paprika are mainly capsanthin and capsorubin having a 3-hydroxy k-end group, and showed strong quenching activity of single oxygen and also showed inhibition of lipid peroxidation induced by free radical. Furthermore, these carotenoids suppressed the generation of superoxide and nitric oxide from differentiated human promelocytic HL-60 cells and mouse macrophage RAW 264.7 cells, respectively. Capsorubin, final metabolite of beta-carotene in paprika, had potent growth inhibitory effects in vitro against human lung cancer A549 cell. Major elements of carotenoid in red paprica such as beta-carotene and capsanthin could not inhibit the growth of A549 cells. In the medium contain 10% of FBS, capsorubin induced cytostatic cell inhibition in the concentration of 30 uM. This was associated with increased level of p27 protein and decrease of cyclin A, cdk2, cdc2 though no significant changes were seen in the level of cyclin B1, cyclin D1, p38, MEK, NF-kB and beta-catenin. These results suggested that treatment of capsourbin cause growth inhibition by reduction of cyclin A without changing MAP kinase -NF-kB pathway nor suppression of beta-catenin integration into nucleus. We studied, for the first time, one of the elements, capsorubin, in paprika extracts as anti-cancer agent against human lung cancer cells.
Successful Plerixafor-Mediated Mobilization, Apheresis, and Lentiviral Vector Transduction of Hematopoietic Stem Cells in Patients with Severe Sickle Cell Disease
Authors: John F Tisdale, Francis J. Pierciey, Rammurti Kamble, Julie Kanter, Lakshmanan Krishnamurti, Janet L. Kwiatkowski, Alexis A Thompson, Ilya Shestopalov, Melissa Bonner, Marcelyne Joseney-Antoine, Mohammed Asmal, Mark C. Walters
Journal: Blood (2017)
AB0444 RISK FACTORS OF JOINT SURGERY IN RHEUMATOID ARTHRITIS TUNISIAN PATIENTS
Authors: Olfa Saidane, Leila Gafsi, Rim Barhoumi, Aicha Ben Tekaya, Rawdha Tekaya, Ines Mahmoud, Leila Abdelmoula
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background:</h3> Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by polyarticular synovial inflammation and progressive joint destruction. Orthopedic surgery is an integral part of the treatment of RA and it is mainly reserved for severe and advanced forms where there is a failure of medical treatment. <h3>Objectives:</h3> To assess the rate of joint surgery in rheumatoid arthritis (RA) Tunisian patients and to determine the risk factors of surgical treatment <h3>Methods:</h3> A retrospective cross sectional study over a period of 15 years including 500 Tunisian patients with RA was conducted. The prevalence of joint surgery indication has been evaluated. Clinical, paraclinical and therapeutic characteristics of RA were compared according to the need of surgical treatment <h3>Results:</h3> Mean age was 53.4 years. Female to male ratio was 5. The indication of joint surgery was noted in 59 patients (12%). Factors associated with joint surgery were delayed diagnosis (p = 0.037), long RA duration (p = 0.017), young onset of RA (p &lt;0.001), presence of joint deformities (p = 0.034), presence of osteoporosis (p = 0.029), presence of antinuclear antibodies&lt;0.001), combination therapy of methotrexate with other conventional synthetic disease-modifying anti-rheumatic drugs (csDMARDs) (p = 0.001), a short period of first medical treatment (p = 0.012) and high erythrocyte sedimentation rate (ESR) (p = 0.027). In multivariate analysis, three factors were independently related to the need of joint surgery: age at disease onset (OR 2.799 95%CI: 1.49-5.22 p=0.01), high ESR level (OR 2.807 95%CI: 1.5-5.24 p=0.01), and association of Methotrexate with other csDMARDs (OR 3.500 95%CI: 1.61-7.56 p=0.01) <h3>Conclusion:</h3> Twelve percent of RA patients needed joint surgery treatment. Predictive factors of surgical treatment were young age at disease onset, high ESR level and association of methotreaxte with other csDMARDs <h3>References</h3> [1] Waljee J, Zhong L, Baser O, Yuce H, Fox DA, Chung KC. The incidence of upper and lower extremity surgery for rheumatoid arthritis among medicare beneficiaries. J Bone Joint Surg Am. 2015;97(5):403-10. [2] Kapetanovic MC, Lindqvist E, Saxne T, Eberhardt K. Orthopaedic surgery in patients with rheumatoid arthritis over 20 years: prevalence and predictive factors of large joint replacement. Ann Rheum Dis. 2008;67(10):1412-6. <h3>Disclosure of Interests:</h3> None declared
Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration
Authors: Henry R. Wilman, Constantinos A. Parisinos, Naeimeh Atabaki-Pasdar, Matt Kelly, E. Louise Thomas, Stefan Neubauer, Anubha Mahajan, Aroon D. Hingorani, Riyaz S. Patel, Harry Hemingway, Paul W. Franks, Jimmy D. Bell, Rajarshi Banerjee, Hanieh Yaghootkar, Christopher Jennison, Beate Ehrhardt, Patrick Baum, Corinna Schoelsch, Jan Freijer, Rolf Grempler, Ulrike Graefe-Mody, Anita Hennige, Christiane Dings, Thorsten Lehr, Nina Scherer, Iryna Sihinecich, Francois Pattou, Violeta Raverdi, Robert Caiazzo, Fanelly Torres, Helene Verkindt, Andrea Mari, Andrea Tura, Toni Giorgino, Roberto Bizzotto, Philippe Froguel, Amelie Bonneford, Mickael Canouil, Veronique Dhennin, Caroline Brorsson, Soren Brunak, Federico De Masi, Valborg Gudmundsdóttir, Helle Pedersen, Karina Banasik, Cecilia Thomas, Peter Sackett, Hans-Henrik Staerfeldt, Agnete Lundgaard, Birgitte Nilsson, Agnes Nielsen, Gianluca Mazzoni, Tugce Karaderi, Simon Rasmussen, Joachim Johansen, Rosa Allesøe, Andreas Fritsche, Barbara Thorand, Jurek Adamski, Harald Grallert, Mark Haid, Sapna Sharma, Martina Troll, Jonathan Adam, Jorge Ferrer, Heather Eriksen, Gary Frost, Ragna Haussler, Mun-gwan Hong, Jochen Schwenk, Mathias Uhlen, Claudia Nicolay, Imre Pavo, Birgit Steckel-Hamann, Melissa Thomas, Kofi Adragni, Han Wu, Leen't Hart, Slieker Roderick, Nienke van Leeuwen, Koen Dekkers, Francesca Frau, Johann Gassenhuber, Bernd Jablonka, Petra Musholt, Hartmut Ruetten, Joachim Tillner, Tania Baltauss, Oana Bernard Poenaru, Nathalie de Preville, Marianne Rodriquez, Manimozhiyan Arumugam, Kristine Allin, Line Engelbrechtsen, Torben Hansen, Tue Hansen, Annemette Forman, Anna Jonsson, Oluf Pedersen, Avirup Dutta, Josef Vogt, Henrik Vestergaard, Markku Laakso, Tarja Kokkola, Teemu Kuulasmaa, Paul Franks, Nick Giordano, Hugo Pomares-Millan, Hugo Fitipaldi, Pascal Mutie, Maria Klintenberg, Margit Bergstrom, Leif Groop, Martin Ridderstrale, Naeimeh Atabaki Pasdar, Harshal Deshmukh, Alison Heggie, Dianne Wake, Donna McEvoy, Ian McVittie, Mark Walker, Andrew Hattersley, Anita Hill, Angus Jones, Timothy McDonald, Mandy Perry, Rachel Nice, Michelle Hudson, Claire Thorne, Emmanouil Dermitzakis, Ana Viñuela, Louise Cabrelli, Heather Loftus, Adem Dawed, Louise Donnelly, Ian Forgie, Ewan Pearson, Colin Palmer, Andrew Brown, Robert Koivula, Agata Wesolowska-Andersen, Moustafa Abdalla, Nicky McRobert, Juan Fernandez, Yunlong Jiao, Neil Robertson, Stephen Gough, Jane Kaye, Miranda Mourby, Anubha Mahajan, Mark McCarthy, Nisha Shah, Harriet Teare, Reinhard Holl, Anitra Koopman, Femke Rutters, Joline Beulens, Lenka Groeneveld, Anitra Koopman, Jimmy Bell, Louise Thomas, Brandon Whitcher
Journal: Journal of Hepatology (2019)

Excess liver iron content is common and is linked to the risk of hepatic and extrahepatic diseases. We aimed to identify genetic variants influencing liver iron content and use genetics to understand its link to other traits and diseases.