tbuckley/cabot-search huggingface dataset:
SAT0591 Demographic and clinical features of familial mediterranean fever patients
Authors: O. Ozdemir Isik, B. Gonul, A. Erol, S. Tekeoglu, D. Temiz Karadag, A. Yazici, A. Cefle
Journal: Annals of the Rheumatic Diseases (2018)

<h3>Background</h3> Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder that causes recurrent episodes of fever, poliserositis, arthritis, skin eruptions. <h3>Objectives</h3> In this study, we aim to present clinical and demographic features of FMF patients followed up in our clinic. <h3>Methods</h3> The clinical, demographic, genetic features and managements of 402 FMF patients (fulfilling Tel-Hashomer Diagnostic Criteria) were analysed. <h3>Results</h3> The mean age was 36.8±11.2 years, mean diagnosis age was 28±11.9 years, and mean disease duration was 189.2±124.5 months, mean duration between onset of disease and onset of treatment was 93.6±104 months. Consanguineous marriage was detected in 7%<sup>29</sup> patients. Fever and abdominal pain both were initial symptoms in 72% of the patients, while 7% of them had chest pain, 4% had only fever, 15% had arthritis, 1% had erysipel-like erythema and 1.5% had inflammatory back pain as the first symptom of FMF (table 1). Eight patients (2%) were suffered from chronic kidney disease and 2 of them were on dialysis programme. Amyloidosis were identified in 14 patients (3.5%) with biopsy. At least one mutation of MEFV gene was detected in 78% patients There was no mutation in 8% patients. In 15% patients, MEFV gene analysis could not be done. The most frequent mutation was M694V mutation and its allel frequency was 54%; the frequency of V726A, M680I, E148Q, R761H and A744S allels mutation were 11%, 7%, 7%, 2%, 1%, respectively. The frequency of compound mutation was 38%, and the most common compound mutation was M694V+R202Q (11%). There was significantly relationship between M694V mutation and arthritis, erysipel-like erythema, proteinuria, sacroiliitis(table 2). Amyloidosis was more frequent in patients who had M694 homozygous mutation. Mean age of disease onset was lower in patient who had M694V homozygous mutation than M694V heterozygous mutation (p&lt;0.001). <h3>Conclusions</h3> Tight control and sustained management are important in FMF to protection from amyloidosis. Similar to literature, the most frequent mutation was M694V mutation, and there was significantly relationship between M694V mutation and arthritis, erysipel-like erythema<sup>(1)</sup>, proteinuria, sacroiliitis<sup>(2)</sup> in our study. <h3>References</h3> [1] Dewalle M, Domingo C, Rozenbaum M, et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur J Hum Genet1998;6:95–7. [2] Akkoc N, Sari I, Akar S, et al. Increased prevalence of M694V in patients with ankylosing spondylitis: additional evidence for a link with Familial Mediterranean fever. Arthritis Rheum2010;62(10):3059–63. <h3>Acknowledgements</h3> None <h3>Disclosure of Interest</h3> None declared
Differential Impact of Heart Failure With Reduced Ejection Fraction on Men and Women
Authors: Pooja Dewan, Rasmus Rørth, Pardeep S. Jhund, Li Shen, Valeria Raparelli, Mark C. Petrie, William T. Abraham, Akshay S. Desai, Kenneth Dickstein, Lars Køber, Ulrik M. Mogensen, Milton Packer, Jean L. Rouleau, Scott D. Solomon, Karl Swedberg, Michael R. Zile, John J.V. McMurray
Journal: Journal of the American College of Cardiology (2019)

Heart failure (HF) trials initiated in the last century highlighted many differences between men and women. Of particular concern was undertreatment of women compared with men, but much has changed during the past 20 years. This study sought to identify these changes, which may give a new perspective on the management of, and outcomes in, women with HF. The study analyzed 12,058 men and 3,357 women enrolled in 2 large HF with reduced ejection fraction (HFrEF) trials with near identical inclusion and exclusion criteria and the same principal outcomes. Outcomes were adjusted for other prognostic variables including N-terminal pro–B-type natriuretic peptide. Women were older and more often obese than men were, had slightly higher systolic blood pressure and heart rate, and were less likely to have most comorbidities, except hypertension. Women had more symptoms and signs (e.g., pedal edema 23.4% vs 19.9%; p < 0.0001) and worse quality of life—median Kansas City Cardiomyopathy Questionnaire Clinical Summary Score 71.3 (interquartile range: 53.4 to 86.5) versus 81.3 (interquartile range: 65.1 to 92.7; p < 0.0001)—despite similar left ventricular ejection fraction and N-terminal pro–B-type natriuretic peptide. However, women had lower mortality (adjusted hazard ratio: 0.68; 95% confidence interval: 0.62 to 0.74; p < 0.001) and risk of HF hospitalization (hazard ratio: 0.80; 95% confidence interval: 0.72 to 0.89; p < 0.001). Diuretics and anticoagulants were underutilized in women. Device therapy was underused in both men and women, but more so in women (e.g., defibrillator 8.6% vs. 16.6%; p < 0.0001). Although women with HFrEF live longer than men, their additional years of life are of poorer quality, with greater self-reported psychological and physical disability. The explanation for this different sex-related experience of HFrEF is unknown as is whether physicians recognize it. Women continue to receive suboptimal treatment, compared with men, with no obvious explanation for this shortfall.
SP0114 How to perform a quick and reliable physical examination in rheumatology
Authors: M. Doherty
Journal: Annals of the Rheumatic Diseases (2018)

The GALS (<i>G</i>ait, <i>A</i>rms, <i>L</i>egs, <i>S</i>pine) screen is a quick, reasonably sensitive way to detect common musculoskeletal (MSK) abnormalities as part of a wider medical assessment.<sup>1</sup> However, for someone with MSK complaints a detailed assessment is required to determine the diagnosis and impact of the condition on that person. The history is the key starting point. This needs to be holistic and individualised as the enquiry proceeds, since the impact of any condition is person-specific and influenced by many factors (e.g. psychosocial, illness perceptions, sleep, comorbidity etc.). A thorough history usually suggests the single most likely cause for the patient's problem(s) and should then guide the examination – an efficient targeted "rapier" approach where the practitioner selects appropriate skills from a range of competencies according to specific history elements. This contrasts with a longer hypothesis-free " screen" where an identical set of procedures is undertaken in each patient. This presentation covers key principles and considerations of assessment and illustrates how the history guides the subsequent "rapier" examination.<sup>2</sup> Examples include: (1) in the <i>history</i>: determination of pain localisation and features associated with radiated pain; pain and stiffness characteristics that differentiate mechanical usage-related pain, inflammatory pain, acute crystal synovitis, destructive bone pain and neurogenic pain; non-specific symptoms of inflammation. (2) in the <i>examination</i>: usual order of inspection at rest, inspection during movement, then palpation at rest and during movement of symptomatic regions; contrasting clinical findings that quickly differentiate joint and peri-articular problems; initial selection of the movement(s) that is affected first and most severely by arthritis – the tight pack position(s); detection of "stress pain" (pain worse in tight-pack but reduced/absent in loose-pack positions – the most sensitive sign of inflammation); examination for effusion, soft-tissue and firm swelling; use of resisted active movements and stress tests for peri-articular lesions; a targeted screen for asymptomatic disease prompted by the main diagnosis. EULAR learning resources available at http://www.eular.org/edu_training_dvd.cfm include:<sup>1</sup> The "GALS" screen and<sup>2</sup> Principles of the musculoskeletal history and examination. <h3>Disclosure of Interest</h3> None declared
Development of a prognostic score for recommended TACE candidates with hepatocellular carcinoma: A multicentre observational study
Authors: Qiuhe Wang, Dongdong Xia, Wei Bai, Enxin Wang, Junhui Sun, Ming Huang, Wei Mu, Guowen Yin, Hailiang Li, Hui Zhao, Jing Li, Chunqing Zhang, Xiaoli Zhu, Jianbing Wu, Jiaping Li, Weidong Gong, Zixiang Li, Zhengyu Lin, Xingnan Pan, Haibin Shi, Guoliang Shao, Jueshi Liu, Shufa Yang, Yanbo Zheng, Jian Xu, Jinlong Song, Wenhui Wang, Zhexuan Wang, Yuelin Zhang, Rong Ding, Hui Zhang, Hui Yu, Lin Zheng, Weiwei Gu, Nan You, Guangchuan Wang, Shuai Zhang, Long Feng, Lin Liu, Peng Zhang, Xueda Li, Jian Chen, Tao Xu, Weizhong Zhou, Hui Zeng, Yongjin Zhang, Wukui Huang, Wenjin Jiang, Wen Zhang, Wenbo Shao, Lei Li, Jing Niu, Jie Yuan, Xiaomei Li, Yong Lv, Kai Li, Zhanxin Yin, Jielai Xia, Daiming Fan, Guohong Han
Journal: Journal of Hepatology (2019)
Abstract 15938: In-hospital Outcomes of ST Elevation Myocardial Infarction in Centenarians
Authors: Amitoj Singh, Sahil Agrawal, Soroush Pakniyat, Kartik Kalra, Aman Rajpal, Akshat Kumar, Nabil Ghani, Simranjit S Randhawa, Sabir Saluja, Munveer Thind, Bhavin Dumaswala, Kanika Samra, Abdullah Quddus, Sudip Nanda, Jamshid Shirani
Journal: Circulation (2017)

Background: Population of centenarians (CN) has increased and ischemic heart disease (IHD) is found in >50% of CN at autopsy. There is no evidence-based guideline for management of ST-segment eleva...
AB1357 Risk factors for cytomegalovirus reactivation in patients with connective-tissue disease; single-centreprospective cohort study
Authors: Y. Ota, Y. Kaneko, T. Takeuchi
Journal: Annals of the Rheumatic Diseases (2018)

<h3>Background</h3> Cytomegalovirus (CMV) reactivation is one of serious opportunistic infections for immunosuppressed patients, therefore, identifying patients at risk for CMV reactivation is of importance. However, no prospective study about CMV reactivation in connective tissue disease (CTD) has been reported. <h3>Objectives</h3> To identify risk factors relevant with CMV reactivation in patients with CTD during remission-induction therapy. <h3>Methods</h3> Consecutive CTD cases who started immunosuppressive therapy from February until December 2017 were enrolled. Serum CMV-IgG was measured before the induction therapy, and subsequently, CMV pp65 antigen was monitored weekly. Patients were divided into 2 groups according to the presence or absence of CMV reactivation, and risk factors for CMV reactivation were analysed. <h3>Results</h3> Sixty six cases were enrolled. Mean age was 59.9±17.9 y/o, and female was 68.2%. The underlying diseases were following; anti-neutrophil cytoplasmic antibody-associated vasculitis 18, systemic erythematosus 11, polymyositis/dermatomyositis 9, IgG4-related disease 7, giant cell arteritis 6, and others 15. The initial dose of glucocorticoid (GC) was 50.8±11.5 mg/day (0.92±0.15 mg/kg/day) as prednisolone (PSL) with additional methylprednisolone (mPSL) pulse therapy being conducted in 17 (25.8%). Concomitant immunosuppressive therapies were intravenous cyclophosphamide (IVCY) in 25, mycophenolate mofetil 9, and calcineurin inhibitor 7, tocilizumab 2, infliximab 1, abatacept 1, and rituximab 1. None of 10 CMV-IgG negative patients developed CMV reactivation. Among 56 CMV-IgG positive patients, CMV reactivated in 20 patients (35.7%). Among those, CMV infection occurred in 2 patients (hematopoietic injury and hepatitis). Previous history of GC administration (p=0.032), initial GC dose (p=0.033), mPSL pulse therapy (p=0.018), IVCY (p=0.003), and low lymphocyte count 1 week after treatment initiation (p=0.023) were significantly related with CMV reactivation. <h3>Conclusions</h3> While no CMV reactivation occurred in CMV-IgG negative cases, treatment regimen and low lymphocyte count were associated with CMV reactivation in CMV-IgG positive CTD cases. <h3>Disclosure of Interest</h3> None declared
Quantitative Multiplex Immunohistochemistry Identifies Immunosuppression in the AML Bone Marrow and NK-Cells As Prognostic Biomarker in Intermediate-Risk Patients
Authors: Oscar Brück, Olli Dufva, Sami Blom, Riku Turkki, Mette Ilander, Sanna M. Siitonen, Panu Kovanen, Celine Pallaud, Pedro Marques Ramos, Hanna Lähteenmäki, Katja Välimäki, Antonio Ribeiro, Olli Kallioniemi, Kimmo Porkka, Teijo Pellinen, Satu Mustjoki
Journal: Blood (2018)
Lenalidomide Maintenance after Autologous Transplantation Prolongs PFS in Young MCL Patients: Results of the Randomized Phase III MCL 0208 Trial from Fondazione Italiana Linfomi (FIL)
Authors: Marco Ladetto, Simone Ferrero, Andrea Evangelista, Michael Mian, Alice Di Rocco, Angela Coggi, Giuseppe Rossi, Alessandro Re, Vittorio Stefoni, Federica Cavallo, Annalisa Chiappella, Armando Santoro, Chiara Rusconi, Maria Gomes da Silva, Manuel Gotti, Anna Lia Molinari, Filippo Ballerini, Andres J M Ferreri, Alberto Bosi, Franco Narni, Caterina Stelitano, Alberto Zamò, Gianni Ciccone, Umberto Vitolo, Maurizio Martelli, Sergio Cortelazzo
Journal: Blood (2018)
Curbing Unnecessary and Wasted Diagnostic Imaging
Authors: Ohad Oren, Electron Kebebew, John P. A. Ioannidis
Journal: JAMA (2019)

In this Viewpoint, Ioannidis and coauthors compare overuse of computed tomography and magnetic resonance image scanning with large-scale haphazard population screening for disease and call for dedicated investigations to understand how to reduce unnecessary and wasteful diagnostic imaging.
SAT0433 Application of the doris algorithm for the definition of disease remission over a 2-year period in a cohort of italian patients with systemic lupus erythematosus
Authors: F. Dall’ara, L. Andreaoli, G. Armentaro, F. Migliorati, M. Frassi, F. Franceschini, S. Calza, A. Tincani
Journal: Annals of the Rheumatic Diseases (2018)

<h3>Background</h3> Systemic Lupus Erythematosus (SLE) is characterised by a fluctuating course. To achieve sustained remission is the ultimate goal of maintenance treatment. However remission is difficult to define in SLE. In 2014, an international Task Force named DORIS proposed four definitions of remission.<sup>1</sup> <h3>Objectives</h3> Aim of this study was to evaluate the performance of the DORIS algorithm in comparison to the remission status as defined by clinical judgement and to identify the frequency of remission as determined by DORIS for each clinical disease pattern. <h3>Methods</h3> Monocentric retrospective study. Among all SLE patients followed at the Lupus Clinic between 2014 and 2016, we enrolled patients fulfilling the <sup>SLICC 2012</sup> criteria who were visited at least once in 2016 and who had at least 5 biannual medical examinations in the previous 2 years. Definitions of remission according to DORIS, Clinical Remission, and disease patterns are reported in table 1. <h3>Results</h3> 101 SLE patients were enrolled for this study (94% female, mean age 45 years). 17.8% of patients were in remission in all the 5 time-points, vice versa 29.7% of patients never got into remission. 17.8% of patients have been in remission for 24 months, while 21.8% of patients less then 6 months. Mean duration of DORIS remission was 7.96 months. The most prevalent disease patter were RR (41,6%) and CQ (41,6%), while CA pattern was present in 16,8% of patients. DORIS remission was most frequently achieved in CQ pattern (65.2% of visits), less frequently in CA (5.9%). 294 visits out of 505 (58%) were defined as "non-remission" according to DORIS. cSLEDAI above zero was the item that most frequently accounted for "non-remission", particularly urinary and haematological (as reported in figure 1). In 229 (43.3%) visits there was a disagreement between DORIS and clinical judgement: the reasons for discordant results were respectively: a) self-management of steroids dosage and precautionary increase of steroids in the suspect of a flare in 7.1%; b) cSLEDAI &gt;0 in 27.2%, PGA≥0.5 in 12.6%, more than one of these items in 53.1%. <h3>Conclusions</h3> Nearly 40% of the visits displayed a disagreement between clinical judgement of remission and DORIS remission. This may be attributable mainly to a different approach in evaluating patients: longitudinal by clinical judgement and cross-sectional by DORIS. As compared to clinical judgement of remission, the DORIS definition is not designed to capture "low disease activity", particularly patients who carry a PGA between 0.5 and 1 and those who require a medium dosage of steroids in the frame of a CA pattern. <h3>Reference</h3> [1] van Vollenhoven R, et al. Ann Rheum Dis2017Mar;76(3):554–561. <h3>Disclosure of Interest</h3> None declared
AB1097 Progressive pseudorheumatoid dysplasia (PPRD) in siblings mimicking inflammatory arthropathy
Authors: S. Khan, Z. Afridi, I. Malik
Journal: Annals of the Rheumatic Diseases (2018)

<h3>Background</h3> Progressive pseudorheumatoid dysplasia is a rare condition with an incidence of 1 in 1 million. <h3>Objectives</h3> Keeping in mind rare disorders when dealing with children in rheumatology clinics. <h3>Methods</h3> A 12 years old girl was referred to rheumatology by general practitioner. Her main complaint was difficulty walking, standing up from sitting position, short stature and nodulosis of interphalangeal joints. Initially she had muscle weakness which was thought to be contributing to her gait problem and difficulty standing. Investigation revealed myopathic changes on electromyography though her CK was entirely normal. Other investigations including routine bloods and inflammatory markers were normal. Immunology was negative. X-rays revealed reduced joint spaces in interphalangeal joints and epiphyseal dysplasia in elbows and hips. On examination there was no evidence of any synovitis. The child was of short stature i.e less than the 3rd percentile on growth chart. She had a waddling gait. There was nothing in the history to suggest previous or current inflammatory arthropathy. Interestingly this child had another younger sibling, 7 years old girl who had similar changes in her hands. <h3>Results</h3> Based on history, investigations, examination and familial characteristic we felt that these two kids (siblings) had PPRD. It usually happens at the age of 3 to 8 years. Walking pattern, fatigue, weakness and intermittent episodes of stiffness are the common symptoms. Other feature is reduced joint spaces in knees and hips. At birth kids are usually of normal height but by adulthood they are short statured. They also can have calcium deposition around the joints. PPRD is caused by mutation in WISP3 gene which is responsible for bone growth and cartilage maintenance and is inherited in an autosomal recessive pattern. <h3>Conclusions</h3> Kids can have a variety of musculoskeletal disorders. We feel that management of rheumatological conditions in kids need to be approached in a multidisciplinary way. Genetic disorders mimicking inflammatory conditions need to be considered all time. In those places particularly where paediatric rheumatologists are not available, involvement of paediatricians may be useful. In terms of PPRD, it is commonly mistaken as juvenile rheumatoid arthritis, however there is no inflammatory process going on in PPRD. <h3>Reference</h3> [1] NIH, US National Library of Medicine, Genetics Home Reference, Your Guide to Understanding Genetic Conditions <h3>Acknowledgements</h3> Prof. Tahira Nishtar, Consultant Radiologist, Lady Reading Hospital, Medical teaching Institution, Peshawar, Pakistan <h3>Disclosure of Interest</h3> None declared
AB1257 Impact of a systematic screening of multimorbidities in patients with chronic inflammatory rheumatic diseases
Authors: M. BEURAI-WEBER, A. JAUSSENT, A. JAUSSENT, G.DU. CAILAR, M.-C. PICOT, F. ROUBILLE, J.-D. COHEN, J. MOREL, J. BOUSQUET, P. FESLER, B. COMBE, C. DAIEN
Journal: Annals of the Rheumatic Diseases (2018)

<h3>Objectives</h3> EULAR proposes to screen multimorbidities in chronic inflammatory rheumatic diseases. The aim of the study was to assess i) multimorbidities in patients with chronic inflammatory diseases, ii) how patients follow recommendations given after a systematic standardised multimorbidity screening. <h3>Methods</h3> Exams were performed during a 1 day multimorbidity clinic. Diabetes, hypertension, CVD damage, chronic respiratory diseases, osteoporosis and preventive measures were assessed. Advice, complementary exams and prescriptions were provided to patient and general practitioner after this check-up if needed. Patients were called 3 months later to assess the applications of the given recommendations. <h3>Results</h3> Among the 541 patients screened, hypertension was present in 28.1% patients, dyslipidemia in 19.2%, chronic respiratory tract diseases in 12.8% and diabetes in 9.6%. Screening led to the following recommendations: blood pressure monitoring (22.6% patients), dietary advice (56.8%), cardiologist referral (35.5%), intensification of physical activity (27.0%), cancer screening (50.5%), vaccinations (60.6%) and vitamino-calcium supplementation (30.3%). On the 237 patients called back, 72.3% underwent blood pressure monitoring, 58.6% followed dietary advice, 64.4% took vitamino-calcium supplementation, 55.2% had vaccinations done, 52.1% saw a cardiologist, 42.7% increased physical activity and 31.4% performed cancer screening. No specific gender, age, pathology, or psychological factors were associated with adherence to recommendations. <h3>Conclusions</h3> This study underlines the relevance of a systematic screening of multimorbidities in chronic inflammatory rheumatic diseases, and the good patient's adherence rate to the recommendations. <h3>Disclosure of Interest</h3> None declared
Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene <i>MSH6</i>
Authors: Steven Narod
Journal: JAMA Oncology (2019)

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Effectiveness of Acupuncture as Adjunctive Therapy in Osteoarthritis of the Knee
Authors: Brian M. Berman, Lixing Lao, Patricia Langenberg, Wen Lin Lee, Adele M.K. Gilpin, Marc C. Hochberg
Journal: Annals of Internal Medicine (2004)

Acupuncture as adjunctive therapy for osteoarthritis of the knee seems to improve function and relieve pain when compared with control groups receiving either credible sham acupuncture or patient e...