tbuckley/cabot-search huggingface dataset:
THU0015 Genetic Analyses of Candidate Genes for Sapho Syndrome
Authors: F. J Del Castillo, L. Ruiz-Palmero, M. Hurtado-Nédélec, T. Caniego, M. F. Kahn, E. Gómez-Rosas, O. Meyer, S. Chollet-Martin, G. Hayem
Journal: Annals of the Rheumatic Diseases (2013)

<h3>Background</h3> The Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) syndrome is currently considered as an autoinflammatory disorder of bone and skin that can be classified with the inflammatory spondyloarthropathies (1). Genetic predisposing factors for SAPHO syndrome have been long suspected because of reported familial clustering of the syndrome, although most cases are sporadic (2). Additional support for a genetic origin of the syndrome is provided by a murine model (the <i>cmo</i> mouse) that carries a spontaneous recessive mutation in the <i>Pstpip2</i> gene (3). However, previous studies excluded a role for the genes <i>PSIPT2</i>, <i>LPIN</i> and <i>NOD2</i> in the pathogenesis of the syndrome (4). Two rare autoinflammatory disorders, DIRA and DITRA syndromes, have been related to a genetic deficiency in interleukin-1 (IL-1) and IL-36 receptor antagonists, respectively (5-7). These two conditions, particularly DIRA syndrome, share some features with SAPHO syndrome. <h3>Objectives</h3> We investigated the possible role of the genes encoding IL-1 receptor antagonist (<i>IL1RN</i>), IL-36 receptor (<i>IL36R</i>), IL-36 receptor antagonist (<i>IL36RN</i>) and cell-surface lectin Siglec-15 (<i>SIGLEC15</i>) in the pathogenesis of SAPHO syndrome. <h3>Methods</h3> The study was performed on a cohort of 40 SAPHO syndrome subjects that includes 3 familial cases. After obtaining written informed consent, we extracted DNA from peripheral blood samples by using automated magnetic-bead technology (Chemagen). We PCR-amplified and sequenced all exons and intron-exon boundaries of the four candidate genes. In addition, we carried out a genome-wide copy-number variation (CNV) analysis on SNP arrays (Illumina BeadStudio array of 2.5 million SNPs). <h3>Results</h3> We did not identify any pathogenic mutations in the <i>IL1RN</i>, <i>IL36R</i>, <i>IL36RN</i> and <i>SIGLEC15</i> genes, although we did detect known polymorphic variations. Heterozygosity and CNV analyses excluded any deletions of the candidate genes in our cohort. <h3>Conclusions</h3> We found no involvement of the <i>IL1RN</i>, <i>IL36R</i>, <i>IL36RN</i> and <i>SIGLEC15</i> genes in the pathogenesis of SAPHO syndrome. <h3>References</h3> <i>Clin Exp Rheumatol</i> 1988; <b>6</b>: 109-112. <i>Joint Bone Spine</i> 2007; <b>74</b>: 123-126. <i>Bone</i> 2006; <b>38</b>: 41-47. <i>J Rheumatol</i> 2010; <b>37</b>: 401-409. <i>N Engl J Med</i> 2009; <b>360</b>: 2426-2437. <i>N Engl J Med</i> 2011; <b>365</b>:620–628. <i>Am J Hum Genet</i>2011; <b>89</b>: 432–437. <h3>Acknowledgements</h3> T.C. was a recipient of an "Ayuda Predoctoral" fellowship from CIBERER. This work was supported by grant FIS PI11/00283 from ISCIII (to F.J.d.C.). <h3>Disclosure of Interest</h3> None Declared
Weight Loss and Health Status 3 Years after Bariatric Surgery in Adolescents
Authors: Thomas H. Inge, Anita P. Courcoulas, Todd M. Jenkins, Marc P. Michalsky, Michael A. Helmrath, Mary L. Brandt, Carroll M. Harmon, Meg H. Zeller, Mike K. Chen, Stavra A. Xanthakos, Mary Horlick, C. Ralph Buncher
Journal: New England Journal of Medicine (2015)

Bariatric surgery is increasingly considered for the treatment of adolescents with severe obesity, but few prospective adolescent-specific studies examining the efficacy and safety of weight-loss surgery are available to support clinical decision making.
Transient Tc-99m MDP Hepatic Uptake Induced by Acute Hypoxic Hepatitis
Authors: SERGEY BYKOV, IZAK GARTY, NAIEL BISHARAT
Journal: Clinical Nuclear Medicine (2001)

From the Departments of Nuclear Medicine* and Internal Medicine “G” † Haemek Medical Center, Afula, Israel Received for publication September 25, 2000. Accepted November 1, 2000. Reprint requests: Sergey Bykov, M.D., Nuclear Medicine Department, Haemek Medical Center, Afula 18101, Israel.
EFFECTS OF ALTERNATIVE PREPARATION PROCEDURES ON LABELING EFFICIENCY AND STABILITY OF Tc-99m LABELED ECD, MAG3, MDP, AND MIBI.
Authors: T. V. Bogsrud, T. J. Herold, M.-N. Chen, D. W. Mahoney, J. C. Hung
Journal: Clinical Nuclear Medicine (1998)

Bogsrud, T.; Herold, T. J.; Chen, M.-N.; Mahoney, D. W.; Hung, J. C. Author Information
Superior In vivo Transduction of Human Hepatocytes Using Engineered AAV3 Capsid
Authors: Koen Vercauteren, Brad E Hoffman, Irene Zolotukhin, Geoffrey D Keeler, Jing W Xiao, Etiena Basner-Tschakarjan, Katherine A High, Hildegund CJ Ertl, Charles M Rice, Arun Srivastava, Ype P de Jong, Roland W Herzog
Journal: Molecular Therapy (2016)

Adeno-associated viral (AAV) vectors are currently being tested in multiple clinical trials for liver-directed gene transfer to treat the bleeding disorders hemophilia A and B and metabolic disorders. The optimal viral capsid for transduction of human hepatocytes has been under active investigation, but results across various models are inconsistent. We tested in vivo transduction in "humanized" mice. Methods to quantitate percent AAV transduced human and murine hepatocytes in chimeric livers were optimized using flow cytometry and confocal microscopy with image analysis. Distinct transduction efficiencies were noted following peripheral vein administration of a self-complementary vector expressing a gfp reporter gene. An engineered AAV3 capsid with two amino acid changes, S663V+T492V (AAV3-ST), showed best efficiency for human hepatocytes (~3-times, ~8-times, and ~80-times higher than for AAV9, AAV8, and AAV5, respectively). AAV5, 8, and 9 were more efficient in transducing murine than human hepatocytes. AAV8 yielded the highest transduction rate of murine hepatocytes, which was 19-times higher than that for human hepatocytes. In summary, our data show substantial differences among AAV serotypes in transduction of human and mouse hepatocytes, are the first to report on AAV5 in humanized mice, and support the use of AAV3-based vectors for human liver gene transfer. Adeno-associated viral (AAV) vectors are currently being tested in multiple clinical trials for liver-directed gene transfer to treat the bleeding disorders hemophilia A and B and metabolic disorders. The optimal viral capsid for transduction of human hepatocytes has been under active investigation, but results across various models are inconsistent. We tested in vivo transduction in "humanized" mice. Methods to quantitate percent AAV transduced human and murine hepatocytes in chimeric livers were optimized using flow cytometry and confocal microscopy with image analysis. Distinct transduction efficiencies were noted following peripheral vein administration of a self-complementary vector expressing a gfp reporter gene. An engineered AAV3 capsid with two amino acid changes, S663V+T492V (AAV3-ST), showed best efficiency for human hepatocytes (~3-times, ~8-times, and ~80-times higher than for AAV9, AAV8, and AAV5, respectively). AAV5, 8, and 9 were more efficient in transducing murine than human hepatocytes. AAV8 yielded the highest transduction rate of murine hepatocytes, which was 19-times higher than that for human hepatocytes. In summary, our data show substantial differences among AAV serotypes in transduction of human and mouse hepatocytes, are the first to report on AAV5 in humanized mice, and support the use of AAV3-based vectors for human liver gene transfer.
THU0439 An evaluation of a novel technique for fully automatic synovitis quantification from pre- and post-contrast wrist MRI
Authors: P. Mysling, E. Dam, S. Zaim, H.K. Genant, T. Fuerst, M. Lillholm
Journal: Annals of the Rheumatic Diseases (2013)

<h3>Background</h3> Current rheumatoid arthritis (RA) MRI synovitis assessment protocols are based on manual, semi-quantitative scoring using RAMRIS. <h3>Objectives</h3> To investigate the feasibility of fully automatic synovitis quantification using a novel registration-based approach. <h3>Methods</h3> T1-weighted coronal fat-saturated gradient-echo sequences of the wrist were acquired pre- and post-contrast (Gd-DTPA) on 1.5 Tesla scanners. The sequences were acquired at baseline (15 patients) and 18 months later (14 patients) from patients who had RA with active synovitis at baseline. One patient was excluded due to miscalibration between pre- and post-contrast sequences. Synovitis defined as enhancing synovial tissue was quantified for the distal radio-ulnar, radio-carpal, and inter-carpal/CMC joints for each patient at each time point using a novel, fully automatic technique. The synovitis volume was estimated in three steps: 1) the synovium was segmented using multi-atlas freeform registration from four binary atlases of wrist synovia (independent sequences), 2) positioning differences between pre- and post-contrast sequences were corrected using rigid registration, and 3) the synovitis volume was estimated by thresholding the difference image in the region of the segmented synovium. Synovitis was also scored by two radiologists using RAMRIS. As in [1], the technique is evaluated using the Spearman correlation coefficient (CC) to RAMRIS scores. <h3>Results</h3> Correlation for static scoring is reported in Table 1. Correlation for longitudinal scoring, i.e., change in volume vs. change in RAMRIS score from baseline to follow-up, is reported in Table 2. We report the correlation to the RAMRIS scores of the individual readers and to the average scores of the two readers. Moreover, we report the CCs for summarized synovitis measurement, i.e., total RAMRIS scores vs. total automatic scores. The CCs between the radiologists were 0.70 and 0.88 for static and longitudinal summarized scoring. <h3>Conclusions</h3> Our results show that fully automatic wrist synovitis measurement from MRI is feasible with good to excellent correlation to manual RAMRIS scores. For comparison, RAMRIS inter-reader correlation scores have been reported in the range 0.58-0.74 [1]. <h3>References</h3> Chand, A.S., McHaffie, A., Clarke, A.W. et al: Quantifying synovitis in rheumatoid arthritis using computer-assisted manual segmentation with 3 tesla MRI scanning. Journal of Magnetic Resonance Imaging 33(5), 1106-1113 (2011). <h3>Disclosure of Interest</h3> P. Mysling: None Declared, E. Dam Shareholder of: Biomediq, Employee of: Biomediq, S. Zaim Employee of: CCBR-SYNARC, H. Genant Shareholder of: CCBR-SYNARC, Employee of: CCBR-SYNARC, T. Fuerst Shareholder of: CCBR-SYNARC, Employee of: CCBR-SYNARC, M. Lillholm Shareholder of: Biomediq, Employee of: Biomediq
PCSK9 INHIBITION-MEDIATED REDUCTION IN TRIGLYCERIDE WITH EVOLOCUMAB IS RELATED TO BASELINE TRIGLYCERIDE LEVELS: AN ANALYSIS FROM 1791 PATIENTS
Authors: Evan A. Stein, Ransi Somaratne, Constantine Djedjos, Thomas Liu, Mary Elliott, Scott Wasserman, Robert Scott
Journal: Journal of the American College of Cardiology (2016)
667 TERLIPRESSIN AND ALBUMIN VS MIDODRINE PLUS OCTREOTIDE AND ALBUMIN IN THE TREATMENT OF HRS IN PATIENTS WITH CIRRHOSIS: RESULTS OF A CONTROLLED CLINICAL TRIAL BY AISF
Authors: M. Cavallin, M. Merli, S. Fasolato, P.L. Toniutto, F. Salerno, M. Bernardi, C. Colletta, F. Salinas, A. Di Giacomo, L. Ridola, E. Fornasiere, M. Cazzaniga, P. Caraceni, A. Gatta, P. Angeli
Journal: Journal of Hepatology (2012)
Abstract SY01-02: Mapping the landscape of conditional vulnerabilities in non-small cell lung cancer
Authors: Hyunseok Kim, Hua Gao, John Minna, Bruce Posner, Michael A. White
Journal: Cancer Research (2011)

Abstract Recognition that cancer is a diverse disease, driven by discordant patient-specific aberrations of cell function, has launched intense efforts to identify drugs matched to the needs of individual patients. However, selection of appropriate treatment is dramatically limited by the paucity of available drugs and by the difficulty of linking treatment options to the appropriate patients. We are employing an extensive panel of non-small cell lung cancer-derived cell lines and clinically pathologically annotated tumor samples to model the diversity of molecular etiologies driving lung cancer initiation and progression. By using quantitative measures of molecular correlates together with concordant responses to whole-genome genetic perturbations and 200,000 small molecule perturbations, we have parsed this heterogeneous panel into a limited number of clades defined by shared liabilities coupled to robust molecular biomarkers. Many of these liabilities represent new intervention targets together with chemical matter that intersects those targets. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr SY01-02. doi:10.1158/1538-7445.AM2011-SY01-02
FRI0564-HPR Aquatic Exercise Brings Relief to Patients with Inflammatory Rheumatic Diseases: Table 1.
Authors: A. Christie, H. Dagfinrud, P. Mowinckel, K.B. Hagen
Journal: Annals of the Rheumatic Diseases (2014)

<h3>Background</h3> Aquatic exercises, the performance of structured exercises while the body is immersed in heated water, are frequently used as an adjunct therapeutic modality for patients with rheumatic diseases. Updated evidence shows that this modality is beneficial for reducing pain and disability; however, land-based exercises give comparable effects. Still aquatic exercises is highly preferred by the patients, claiming effects on pain, fatigue, stiffness and daily activities. Further, due to the fluctuations in their disease symptoms, patients have expressed a need for more frequent assessments and tighter monitoring of their disease. <h3>Objectives</h3> To compare levels of symptoms in patients with inflammatory rheumatic diseases during periods with and without aquatic exercises. <h3>Methods</h3> Thirty-six patients with an inflammatory rheumatic disease were included from three centres in an observational study. In all centres the patients were offered two periods with aquatic exercises, each lasting 12 weeks, during the period from September - June. In this period pain, fatigue, stiffness and ability to carry out daily activities were reported with text messages on mobile phones twice a week for a minimum of 35 weeks. The symptoms were reported across the two periods with aquatic exercises (intervention) and the two periods without (rest) in the following order: intervention – rest – intervention – rest. For each individual, we fitted a segmented linear regression model using a time series approach with autocorrelated errors. The parameter estimates were used to estimate the individual effects, and these effects were used in a paired t-test. <h3>Results</h3> Overall, the patients reported significantly reduced levels of pain, fatigue and stiffness, and enhanced ability to carry out activities during periods with aquatic exercises compared to periods without (table). During the study 2508 text-messages were sent out. Fifty-two (2.1%) messages were not returned, resulting in a response-rate of 97.9% for the whole group. Response-rates per. centre were 97.1%, 98.3% and 98.4%, respectively. <h3>Conclusions</h3> Patients with inflammatory rheumatic diseases reported reduced levels of pain, fatigue and stiffness and enhanced ability to perform daily activities in periods with aquatic exercises compared to periods without aquatic exercises. The mobile phone was a highly feasible data collection tool in a multicentre study requiring frequent assessments of patient reported outcomes. <h3>References</h3> Hall J et al. Does aquatic exercise relieve pain in adults with neurologic or musculoskeletal disease? A systematic review and meta-analysis of randomized controlled trials. Arch Phys Med Rehabil. 2008;89(5):873-83 <h3>Disclosure of Interest</h3> None declared <h3>DOI</h3> 10.1136/annrheumdis-2014-eular.2892
SP0090 Steroid myopathy - do molecular mechanisms bring us closer to novel treatment strategies?
Authors: I.E. Lundberg
Journal: Annals of the Rheumatic Diseases (2013)

<h3>ABSTRACT</h3> The harvester ant genus <i>Pogonomyrmex</i> is endemic to arid and semiarid habitats and deserts of North and South America and California harvester ant <i>Pogonomyrmex californicus</i> is the most widely distributed <i>Pogonomyrmex</i> species in the North America. <i>P. californicus</i> colonies are usually monogynous, i.e. a colony has one queen. However, in a few populations in California, primary polygyny evolved, i.e. several queens cooperate in colony founding after their mating flights and continue to coexist in mature colonies. Here, we present high quality genome assembly and annotation of <i>P. californicus</i>. The size of the assembly is 241 Mb, which is in good agreement with previously estimated genome size and we were able to annotate 17,889 genes in total, including 15,688 protein-coding ones with BUSCO completeness at the 95% level. This high quality genome will pave the way for investigations of the genomic underpinnings of social polymorphism in queen number, regulation of aggression, and the evolution of adaptations to dry habitats in <i>P. californicus</i>.
AB0998 The Severity of Pulmonary Fibrosis in Transthoracic Ultrasonography (TUS)
Authors: N. Buda, Z. Smoleńska, M. Porzezińska, W. Kosiak, Z. Zdrojewski
Journal: Annals of the Rheumatic Diseases (2014)

<h3>Background</h3> The aim of this study was to determine the scale of severity of pulmonary fibrosis in the transthoracic ultrasonography (TUS). <h3>Objectives</h3> This study propose an estimation of severity of pulmonary fibrosis in TUS. The study group contained patients with idiopathic pulmonary fibrosis and pulmonary fibrosis in course of connective tissue diseases. <h3>Methods</h3> TUS was performed in 50 patients (30 female, 20 male), average age 53 (SD 24), with diagnosed idiopathic pulmonary fibrosis (20/50) and pulmonary fibrosis in the course of connective tissue disease (30/50). Pulmonary fibrosis was confirmed by high resolusion computed tomography (HRCT). The study group was compared with control group (50 subjects) with normal X-ray and no history in the direction of lung diseases. <h3>Results</h3> In the ultrasound pulmonary fibrosis scale was used ultrasound features showing the best correlation with the results (HRCT). In the first part of the study determined the severity of pulmonary fibrosis in HRCT by Warricks scale (called Fibrosis Index).Then, set up the scale of severity of pulmonary fibrosis on TUS, which was called Ultrasound Fibrosis Index. Taken into account the following ultrasound signs: irregular pleural line, blurred pleural line, B-line artifacts below 3 in one intercostal space, B-line artifacts over 4 in one intercostal space and Am-line artifacts. It has been shown statistically significant correlation between Ultrasound Fibrosis Index and Fibrosis Index (HRCT). <h3>Conclusions</h3> This study indicates the possibility to estimate a severity of pulmonary fibrosis using TUS. This tool can be usefull in monitoring patients with recognized pulmonary fibrosis in course connective tissue diseases and another type of pulmonary fibrosis. <h3>Disclosure of Interest</h3> None declared <h3>DOI</h3> 10.1136/annrheumdis-2014-eular.3831
HYPERGLYCAEMIA WITHIN 14 DAYS OF LIVER TRANSPLANTATION PREDICTS NEW ONSET DIABETES AFTER TRANSPLANTATION (NODAT): Table 1
Authors: A Turner, A Pierce, H Farne, S Kriese, D L Shawcross, N D Heaton, M A Heneghan
Journal: Gut (2013)

<h3>Introduction</h3> New onset diabetes after transplantation (NODAT) is an important complication of liver transplantation associated with greater graft rejection, sepsis, renal impairment, and biliary complications. The aetiology of NODAT is unknown but recognized risk factors include calcineurin inhibitor immunosuppression and hepatitis C infection. There is limited evidence that hyperglycaemia within 14 days post-transplant may also contribute to NODAT. <h3>Aims/Background</h3> We sought to assess the risk factors associated with NODAT in liver transplant recipients at a major European transplant unit. <h3>Method</h3> We retrospectively studied 148 consecutive liver transplant recipients in 2009 at King9s College Hospital. We gathered demographic and biochemical data, pre-transplant UKELD and MELD scores, aetiology of liver disease, daily glucose kinetics, total daily insulin requirement in the 14 days post-transplant, requirement for diabetes medications at 1 year, immunosuppression therapy (including steroids), intensive care and total hospital stay. Variables were analysed for their ability to predict NODAT using Fisher9s exact test (categorical variables), unpaired t test (continuous variables), and logistical regression. <h3>Results</h3> Of the 148 patients identified, 58 had complete blood glucose data and were included in the analysis. 11/58 had pre-transplant diabetes; 7/58 developed NODAT and 40 did not. Key results are shown in table&nbsp;1. Of note, hyperglycaemia in the 14 days post-transplant was associated with NODAT (p=0.003), as was hepatitis C (p=0.018) and lower average plasma tacrolimus concentration on days 1–6 post-transplant (p=0.005). <h3>Conclusion</h3> This is the largest study reported to date to demonstrate that hyperglycaemia within the first 14 days post-transplant is predictive of NODAT in a population given only moderate doses of steroid post-transplant (20 mg prednisolone daily). Hepatitis C also predisposed to NODAT in our population but, contrary to previous reports, higher tacrolimus concentrations did not. Whilst the pathophysiology remains unclear, being vigilant for this important complication and starting hyperglycaemic management in a timely fashion may reduce the incidence of and morbidity associated with NODAT.
Evolutionary Metabolomics Reveals Domestication-Associated Changes in Tetraploid Wheat Kernels
Authors: Romina Beleggia, Domenico Rau, Giovanni Laidò, Cristiano Platani, Franca Nigro, Mariagiovanna Fragasso, Pasquale De Vita, Federico Scossa, Alisdair R. Fernie, Zoran Nikoloski, Roberto Papa
Journal: Molecular Biology and Evolution (2016)

Domestication and breeding have influenced the genetic structure of plant populations due to selection for adaptation from natural habitats to agro-ecosystems. Here, we investigate the effects of selection on the contents of 51 primary kernel metabolites and their relationships in three Triticum turgidum L. subspecies (i.e., wild emmer, emmer, durum wheat) that represent the major steps of tetraploid wheat domestication. We present a methodological pipeline to identify the signature of selection for molecular phenotypic traits (e.g., metabolites and transcripts). Following the approach, we show that a reduction in unsaturated fatty acids was associated with selection during domestication of emmer (primary domestication). We also show that changes in the amino acid content due to selection mark the domestication of durum wheat (secondary domestication). These effects were found to be partially independent of the associations that unsaturated fatty acids and amino acids have with other domestication-related kernel traits. Changes in contents of metabolites were also highlighted by alterations in the metabolic correlation networks, indicating wide metabolic restructuring due to domestication. Finally, evidence is provided that wild and exotic germplasm can have a relevant role for improvement of wheat quality and nutritional traits.
The role of endoscopic ultrasound and endoscopic ultrasound fine needle aspiration in the diagnosis and management of asymptomatic adult gastric bronchogenic cyst
Authors: E Nussinson, A Shahbari, L Chervinsky, D Lumelsky, M Dharan
Journal: Endoscopy (2011)

Aim: This report demonstrates the role of Endoscopic Ultrasound Fine Needle Aspiration in the diagnosis and management of asymptomatic adult gastric bronchogenic cyst.