tbuckley/cabot-search huggingface dataset:
Dilated Cardiomyopathy
Authors: Elizabeth M. McNally, Luisa Mestroni
Journal: Circulation Research (2017)

Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of the large number of genes and alleles attributed to DCM, comprehensive genetic testing encompasses ever-increasing gene panels. Genetic diagnosis can help predict prognosis, especially with regard to arrhythmia risk for certain subtypes. Moreover, cascade genetic testing in family members can identify those who are at risk or with early stage disease, offering the opportunity for early intervention. This review will address diagnosis and management of DCM, including the role of genetic evaluation. We will also overview distinct genetic pathways linked to DCM and their pathogenetic mechanisms. Historically, cardiac morphology has been used to classify cardiomyopathy subtypes. Determining genetic variants is emerging as an additional adjunct to help further refine subtypes of DCM, especially where arrhythmia risk is increased, and ultimately contribute to clinical management.
AB0954 Relationship between serum complement levels and renal pathological classification in children with silent lupus nephritis
Authors: H Wakiguchi, T Kubota, S Takei
Journal: Annals of the Rheumatic Diseases (2017)

<h3>Background</h3> Silent lupus nephritis is defined by some pathological evidence of lupus nephritis with normal urinary findings. It is therefore apparent only upon renal biopsy. Serum complement levels have been associated with overall lupus disease activity. Despite recent progress in understanding the pathogenesis of lupus nephritis, including complement, our understanding of silent lupus nephritis, especially in children, remains limited. <h3>Objectives</h3> To search whether serum complement levels are associated with renal pathological classification in children with silent lupus nephritis. <h3>Methods</h3> We determined serum C3 and C4 levels and International Society of Nephrology/Renal Pathology Society classification in 25 patients with paediatric silent lupus nephritis before initial therapy who were admitted to our hospital. Patients were classified as having silent lupus nephritis based on normal urinary findings at baseline renal biopsy in juvenile systemic lupus erythematosus. <h3>Results</h3> Serum C3 levels varied between International Society of Nephrology/Renal Pathology Society classes, with significantly lower levels for silent lupus nephritis patients in class III compared to class II, and for class II compared to class I. There was no significant difference in serum C4 levels between International Society of Nephrology/Renal Pathology Society classes in patients with silent lupus nephritis. <h3>Conclusions</h3> Our results suggest that serum C3 levels were associated with renal pathological classification in children with silent lupus nephritis. We propose that serum C3 levels would provide a useful tool for predicting latent severe nephritis in patients with juvenile systemic lupus erythematosus who have normal urinary findings before initial therapy. <h3>Disclosure of Interest</h3> None declared
AB0652 Early organ involvement, survival and causes of death in an unselected cohort of dutch patients with systemic sclerosis
Authors: M Vonk, W van den Hombergh, H Knaapen, F van den Hoogen, J Fransen
Journal: Annals of the Rheumatic Diseases (2017)

<h3>Background</h3> Systemic sclerosis (SSc) patients are at risk for organ involvement and premature death. The occurrence of organ involvement that is reported differs widely between various long term cohort studies; ILD 25–90%, PAH 8–32%, CI 5–30%, and SRC 4–12%. Differences in findings also apply to survival, the 5- and 10-year survival rates between studies vary from 80% to 90% and from 60% to 85% respectively (1–3). <h3>Objectives</h3> To assess the occurrence of organ involvement and death in a large, unselected cohort of Dutch SSc patients at the moment of diagnosis and during 5 years of follow-up, stratified by disease subtype and auto-antibodies. <h3>Methods</h3> Up to 2015, 690 SSc patients were included in the Nijmegen SSc cohort. Occurrence of interstitial lung disease (ILD), pulmonary arterial hypertension (PAH), cardiac involvement (CI), scleroderma renal crisis (SRC) and occurrence of death were determined using survival analysis, stratified by disease subtype (limited cutaneous SSc and diffuse cutaneous SSc) and auto-antibodies (ACA, ATA, anti-RNP). <h3>Results</h3> Organ involvement was already present at SSc diagnosis in 32% of patients. In 25%, organ involvement developed during follow-up, mostly ILD (22%). Significant differences between lcSSc and dcSSc were found in SRC at baseline and ILD, PAH and SRC during follow-up. Between the autoantibody subgroups, the occurrence of ILD, PAH and SRC at baseline and ILD during follow-up differed. There were no differences in survival between subtypes and auto-antibodies. The overall 5-year survival rate was 89%. Patients without organ involvement at SSc diagnosis had a better 5-year survival rate than patients with organ involvement at SSc diagnosis: 95% versus 73% respectively (p&lt;0.001). (figure 1) <h3>Conclusions</h3> In many SSc patients, organ involvement is already present at diagnosis or develops in the first 5 years after diagnosis. Survival is significantly worse in patients who already have involvement at the moment of SSc diagnosis. <h3>References</h3> Muangchan C, Canadian Scleroderma Research G, Baron M, Pope J. The 15% rule in scleroderma: the frequency of severe organ complications in systemic sclerosis. A systematic review. The Journal of rheumatology. 2013;40(9):1545–56. Vonk MC, Broers BM, Heijdra YF, Ton E, Snijders R, van Dijk AP, et al. Systemic sclerosis and its pulmonary complications in the Netherlands An epidemiological study. AnnRheumDis. 2008. Nihtyanova SI, Schreiber BE, Ong VH, Rosenberg D, Moinzadeh P, Coghlan JG, et al. Prediction of pulmonary complications and long-term survival in systemic sclerosis. Arthritis &amp; rheumatology. 2014;66(6):1625–35. <h3>Disclosure of Interest</h3> None declared
Men over 40 are most at risk of sudden death during triathlons
Authors: Jacqui Wise
Journal: BMJ (2017)

Deaths and cardiac arrests during triathlons are not rare with most occurring during the swimming segment, according to a case series reported in the Annals of Internal Medicine .1

Triathlon, which combines swimming, cycling, and running, has become increasingly popular in recent years. The study authors said that participants should be aware of the risks and should have adequately trained before taking part. They also said that middle aged and older men should be screened for any underlying cardiovascular disease before taking part.

The study found that death or cardiac …
OP0146 Decrease in cardiovascular event excess risk in rheumatoid arthritis since 2000': a meta- analysis of controlled studies
Authors: E Filhol, C Gaujoux-Viala, B Combe, J Morel, C Hua, A Nutz, C Lukas, F Flaisler
Journal: Annals of the Rheumatic Diseases (2017)

<h3>Background</h3> Compared with the general population, patients with rheumatoid arthritis (RA) have an increased risk of cardiovascular disease or events (CE): stroke, Myocardial Infarction (MI), Congestive Heart Failure (CHF) and Cardiovascular Mortality (CVM). Systemic inflammation is the cornerstone of both RA and atherosclerosis. Over the past fifteen years, new treatment strategies such as tight control, treat to target, methotrexate optimization, biologic DMARDs use has allowed a better control of this inflammation. <h3>Objectives</h3> The aim of this systematic review was to assess the excess risk of presenting a CE in RA patients as compared to general population, before and after the 2000s. <h3>Methods</h3> We systematically searched literature (via Pubmed, Cochrane and abstracts from recent ACR and EULAR congresses) up to March 2016 for observational studies providing data about the occurrence of a CE (among stroke, MI, CHF, CVM) in patients with RA and in a control group. A meta-analysis of the relative risk (RR) concerning patients with RA in relation to the control group was performed for each cardiovascular event and for each period (before and after the 2000s). <h3>Results</h3> Out of 5714 screened references, 28 studies were included. For studies published before 2000, an increased risk of CEs was observed in RA patients: – RR=1.12 [95% CI 1.04; 1.21], p=0.002 for stroke – RR=1.25 [1.14; 1.37], p&lt;0.00001 for CHF – RR=1.21 [1.15; 1.26], p&lt;0.00001 for CVM – RR=1.32 [1.24; 1.41], p&lt;0.00001) for MI. For all studies published after the year 2000, the increased risk was not retrieved for CHF (RR=0.58 [0.11; 3.55], p=0.52) and CVM (RR=1.07 [0.74; 1.56], p=0.71). The excess risk of MI was reduced in comparison with the period before 2000: RR=1.18 [1.14; 1.23], p&lt;0.00001.The excess risk of stroke was stable: RR=1.23 [1.06; 1.43], p=0.006. Discussion: This meta-analysis confirms an increased risk of CEs among people with RA relative to the general population. It also appears that this excess risk is less prevalent than prior to 2000s. This might have two explanations: a better management of the cardiovascular risk in patients with RA and a better control of chronic systemic inflammation thanks to new therapeutic strategies. <h3>Conclusions</h3> The cardiovascular excess risk of RA patients relative to the general population has decreased since 2000s. This suggests that the recent improvements in RA management may have a positive impact on cardiovascular comorbidities. <h3>Disclosure of Interest</h3> None declared
Face Masks and Cough Etiquette Reduce the Cough Aerosol Concentration of <i>Pseudomonas aeruginosa</i> in People with Cystic Fibrosis
Authors: Michelle E. Wood, Rebecca E. Stockwell, Graham R. Johnson, Kay A. Ramsay, Laura J. Sherrard, Nassib Jabbour, Emma Ballard, Peter O’Rourke, Timothy J. Kidd, Claire E. Wainwright, Luke D. Knibbs, Peter D. Sly, Lidia Morawska, Scott C. Bell
Journal: American Journal of Respiratory and Critical Care Medicine (2017)

People with cystic fibrosis (CF) generate Pseudomonas aeruginosa in droplet nuclei during coughing. The use of surgical masks has been recommended in healthcare settings to minimize pathogen transmission between patients with CF.To determine if face masks and cough etiquette reduce viable P. aeruginosa aerosolized during coughing.Twenty-five adults with CF and chronic P. aeruginosa infection were recruited. Participants performed six talking and coughing maneuvers, with or without face masks (surgical and N95) and hand covering the mouth when coughing (cough etiquette) in an aerosol-sampling device. An Andersen Cascade Impactor was used to sample the aerosol at 2 meters from each participant. Quantitative sputum and aerosol bacterial cultures were performed, and participants rated the mask comfort levels during the cough maneuvers.During uncovered coughing (reference maneuver), 19 of 25 (76%) participants produced aerosols containing P. aeruginosa, with a positive correlation found between sputum P. aeruginosa concentration (measured as cfu/ml) and aerosol P. aeruginosa colony-forming units. There was a reduction in aerosol P. aeruginosa load during coughing with a surgical mask, coughing with an N95 mask, and cough etiquette compared with uncovered coughing (P < 0.001). A similar reduction in total colony-forming units was observed for both masks during coughing; yet, participants rated the surgical masks as more comfortable (P = 0.013). Cough etiquette provided approximately half the reduction of viable aerosols of the mask interventions during voluntary coughing. Talking was a low viable aerosol-producing activity.Face masks reduce cough-generated P. aeruginosa aerosols, with the surgical mask providing enhanced comfort. Cough etiquette was less effective at reducing viable aerosols.
J-pouch vs. side-to-end anastomosis after hand-assisted laparoscopic low anterior resection for rectal cancer: A prospective randomized trial on short and long term outcomes including life quality and functional results
Authors: Nuri Okkabaz, Mustafa Haksal, Ali Emre Atici, Yunus Emre Altuntas, Ersin Gundogan, Fazli Cem Gezen, Mustafa Oncel
Journal: International Journal of Surgery (2017)
FRI0325 Prevalence of takayasu arteritis in young women with acute ischemic heart disease
Authors: G Cavalli, A Tomelleri, E Baldissera, L Dagna
Journal: Annals of the Rheumatic Diseases (2017)

<h3>Background</h3> Takayasu arteritis (TA), a systemic vasculitis typically occurring in female patients aged ≤40, can affect the coronary arteries and cause ischemic heart disease. The prevalence of TA among young females with acute ischemic heart disease is undetermined. <h3>Objectives</h3> In this study, we investigated the prevalence of TA in young women presenting with ischemic heart disease in the Emergency Department. <h3>Methods</h3> We conducted a retrospective evaluation of the hospital records of 172,790 consecutive female patients aged &lt;45, who accessed the Emergency Department of our institution over 8 consecutive years (2007–2015). The prevalence of TA and of other etiologies of ischemic heart disease was determined. Diagnosis of TA was established based on the 1990 American College of Rheumatology criteria. <h3>Results</h3> Overall, 2,090 women aged &lt;45 presented to the Emergency Department with chest pain, dyspnea, palpitations, angina, heart failure, or cardiac arrest; 40 had confirmed acute ischemic heart disease. The etiology was "classic" atherosclerosis in 24 cases (60%), TA in 4 cases (10%), vasospasm and sympathomimetic drug abuse in 3 cases each (7.5%), coronary artery dissection and microvascular angina in 2 cases each (5%), Takotsubo and radiation-induced cardiomyopathy in 1 case each (2.5%). <h3>Conclusions</h3> Although a diagnosis of TA is likely to be overlooked, TA is not infrequent in younger females presenting with acute ischemic heart disease. Specifically, TA accounted for 10% of cases of acute ischemic heart disease in female patients aged &lt;45, a finding relevant to the diagnosis and management of these young patients. <h3>Disclosure of Interest</h3> None declared
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control
Authors: Federico Tessadori, Jacques C Giltay, Jane A Hurst, Maarten P Massink, Karen Duran, Harmjan R Vos, Robert M van Es, Richard H Scott, Koen L I van Gassen, Jeroen Bakkers, Gijs van Haaften
Journal: Nature Genetics (2017)
Randomized Controlled Trial of Urokinase versus Placebo for Nondraining Malignant Pleural Effusion
Authors: Eleanor K. Mishra, Amelia O. Clive, Genevieve H. Wills, Helen E. Davies, Andrew E. Stanton, Mohamed Al-Aloul, Alan Hart-Thomas, Justin Pepperell, Matthew Evison, Tarek Saba, Richard Neil Harrison, Anur Guhan, Matthew E. Callister, Ramamurthy Sathyamurthy, Sunita Rehal, John P. Corcoran, Robert Hallifax, Ioannis Psallidas, Nicky Russell, Rachel Shaw, Melissa Dobson, John M. Wrightson, Alex West, Y. C. Gary Lee, Andrew J. Nunn, Robert F. Miller, Nick A. Maskell, Najib M. Rahman
Journal: American Journal of Respiratory and Critical Care Medicine (2017)

Rationale: Patients with malignant pleural effusion experience breathlessness, which is treated by drainage and pleurodesis. Incomplete drainage results in residual dyspnea and pleurodesis failure. Intrapleural fibrinolytics lyse septations within pleural fluid, improving drainage.Objectives: To assess the effects of intrapleural urokinase on dyspnea and pleurodesis success in patients with nondraining malignant effusion.Methods: We conducted a prospective, double-blind, randomized trial. Patients with nondraining effusion were randomly allocated in a 1:1 ratio to intrapleural urokinase (100,000 IU, three doses, 12-hourly) or matched placebo.Measurements and Main Results: Co–primary outcome measures were dyspnea (average daily 100-mm visual analog scale scores over 28 d) and time to pleurodesis failure to 12 months. Secondary outcomes were survival, hospital length of stay, and radiographic change. A total of 71 subjects were randomized (36 received urokinase, 35 placebo) from 12 U.K. centers. The baseline characteristics were similar between the groups. There was no difference in mean dyspnea between groups (mean difference, 3.8 mm; 95% confidence interval [CI], −12 to 4.4 mm; P = 0.36). Pleurodesis failure rates were similar (urokinase, 13 of 35 [37%]; placebo, 11 of 34 [32%]; adjusted hazard ratio, 1.2; P = 0.65). Urokinase was associated with decreased effusion size visualized by chest radiography (adjusted relative improvement, −19%; 95% CI, −28 to −11%; P < 0.001), reduced hospital stay (1.6 d; 95% CI, 1.0 to 2.6; P = 0.049), and improved survival (69 vs. 48 d; P = 0.026).Conclusions: Use of intrapleural urokinase does not reduce dyspnea or improve pleurodesis success compared with placebo and cannot be recommended as an adjunct to pleurodesis. Other palliative treatments should be used. Improvements in hospital stay, radiographic appearance, and survival associated with urokinase require further evaluation.Clinical trial registered with ISRCTN (12852177) and EudraCT (2008-000586-26).
FRI0469 Differences between ankylosing spondylitis patients with and without radiographic hip involvement in china
Authors: X Zheng, Q Wei, J Gu
Journal: Annals of the Rheumatic Diseases (2017)

<h3>Background</h3> Hip involvement, defined by clinical examination or imaging techniques, is a problem of great concern in Ankylosing Spondylitis (AS) patients as it leads to functional impairment and poor outcomes. It has been shown that early age at disease onset, peripheral manifestation and severe axial disease are risk factors, but other characteristics do not show consistency through studies and data is scarce so far. <h3>Objectives</h3> We aim to describe the phenotype differences between AS patients with and without radiographic hip involvement and to identify potential risk factors for hip involvement. <h3>Methods</h3> AS patients fulfilling the Modified New York Criteria and whose pelvic X-rays have been assessed by at least one radiologist and one rheumatologist were included. Radiographic hip involvement was defined by features of osteophytes around the femoral neck, erosions of the acetabulum, axial migration of the femoral head or hip joint space narrowing. The medical records were retrospectively reviewed and collected. Demographic and disease characteristics were compared by descriptive and bivariate statistics using SPSS v19.0 and stata v12.1 package. <h3>Results</h3> Totally 261 AS patients with hip involvement and 429 patients without hip involvement were analyzed. Statistical significance were found between these 2 groups regarding age at disease onset, gender, BMI, disease duration and presence of peripheral arthritis, with all p value≤0.001. Male patients showed strong risk effect on hip involvement with the odds ratio (OR) around 3.27. Meanwhile, the hip-involved group had lower body mass index (BMI), which may relate to long disease duration or high inflammation level. No significant difference of HLA-B27 positivity, family history and other factors were observed (Table 01). Binary logistic regression results showed that age at disease onset, gender, BMI and disease duration were associated with hip involvement in AS (p&lt;0.001). As for the symptoms, among 69 hip-involved and 75 non-involved AS with corresponding records, 83% hip-involved and 35% non-hip-involved patients complained of typical inguinal pain (OR=8.95, 95% CI=3.85∼21.37, p&lt;0.001). <h3>Conclusions</h3> Compared to AS patients without hip involvement, the radiographic hip-involved group are younger age at disease onset, more frequently men and complaining of typical inguinal pain, have lower BMI and longer disease duration. AS patients having these concomitant risk factors should undergo further hip assessment in clinical practice. <h3>References</h3> Jeong H, Eun YH, Kim IY. Characteristics of hip involvement in patients with ankylosing spondylitis in Korea. Korean J Intern Med. 2017 Jan;32(1):158–164. Vander Cruyssen B, Vastesaeger N, Collantes-Estévez E. Hip disease in ankylosing spondylitis. Curr Opin Rheumatol. 2013 Jul;25(4):448–54. <h3>Disclosure of Interest</h3> None declared
Cerebrospinal fluid circulating tumor cells (CSF CTC) for real-time patient monitoring and response to treatment.
Authors: Rachna Malani, Martin Fleisher, Xuling Lin, Antonio Marcilio Padula Omuro, Morris D. Groves, Nancy U. Lin, Michelle E. Melisko, Andrew B. Lassman, Suriya A. Jeyapalan, Samuel Briggs, Lisa Marie DeAngelis, Jeffrey J. Raizer, Elena Pentsova
Journal: Journal of Clinical Oncology (2017)

11549 Background: The validated CellSearch system (Janssen Diagnostics, LLC), utilizing an immunomagnetic CTC selection method based on EPCAM antibody conjugated ferroparticles, is an FDA-approved methodology for enumerating CTC from blood in pts with breast, prostate and colon cancers. The CellSearch system has been used to evaluate CSF CTC of pts with leptomeningeal metastasis (LM) and has demonstrated potential as a diagnostic marker and response to cancer treatment. We explored the use of CSF CTC enumeration in the follow-up of pts with LM from HER2+ cancers receiving intrathecal (IT) therapy, aimed at characterizing changes over time as a potential biomarker of treatment response. Methods: CSF from pts participating in an IRB-approved phase I/II dose escalation trial of IT trastuzumab for LM in HER2+ cancer (NCT01325207) was evaluated by CellSearch system. 3 ml CSF from a ventricular reservoir was collected for CSF CTC enumeration at pre-treatment Day 1 of each cycle and correlated with CSF cytology from the same sample, and with clinical and radiographic response. LM progression was defined as clinical, CSF cytologic or radiographic worsening. Results: 15 pts with HER2+ LM (14 breast, 1 colon) were enrolled; 13 were women. At baseline 7 pts had positive CSF cytology, the other patients had a diagnosis by MRI. Of the 15 pts, 10 had greater than 1 cycle of treatment to be evaluable; 5 pts progressed during cycle 1 (Table). Mean CSF CTC at baseline was 82 per 3ml (range 0-200); 2 pts had no detectable CSF CTCs. A numerical decrease in CSF CTC was observed in 5 pts after cycle 1 and remained low (mean =9.5, range 0-92) while disease was stable. 3 pts (pts.3, 4 and 7) demonstrated a rise in CSF CTCs roughly 1 month prior to disease progression. Conclusions: Changes in CSF CTCs enumeration in response to treatment may allow quantitative surveillance of treatment response. CSF CTCs may serve as a platform to assess treatment response or as an early biomarker of LM progression and should be further investigated. Clinical trial information: NCT01325207. [Table: see text]