tbuckley/cabot-search huggingface dataset:
AB1061 SHORT TERM FOLLOW-UP RESULTS OF CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER AFTER CESSATION OF COLCHICINE: IS IT POSSIBLE TO QUIT?
Authors: AyŞe Tanatar, Şerife Gül Karadağ, Hafize Emine Sonmez, Mustafa Çakan, Nuray Aktay Ayaz
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background</h3> Familial Mediterranean Fever (FMF) is considered as the prototype of autoinflammatory diseases, and colchicine is the main treatment option for FMF. However, the data on cessation of colchicine treatment in FMF patients is limited <h3>Objectives</h3> To define the characteristics of children with familial Mediterranean fever (FMF) whose colchicine treatment was discontinued and then to compare these features of the patients whose colchicine was restarted with the ones not restarted. <h3>Methods</h3> Sixty-four out of 1786 children with FMF whom colchicine was stopped by the physician or patients/parents own decision were enrolled. These patients were grouped into two as: group 1; children whose colchicine was re-started and group 2; children whose colchicine was not re-started. The demographic, clinical and genetic data were collected and compared between group1 and group 2. <h3>Results</h3> Colchicine was stopped in 59.4% (38/64) by the physician and 40.6% (26/64) of them had stopped colchicine by patients/parents will. Colchicine was ceased at a median of 10.6 (2.120.5) years of age, and attack- and inflammation-free periods of 18.2 (6-148) months. The median follow-up of 64 patients after colchicine cessation was 37.4 (6.4-154.7) months. It was re-started in seventeen patients due to attacks (n=11) or elevated acute phase reactants (n=6), while remaining 47 patients did not require colchicine. The age at cessation of the colchicine was lower (p= 0.04) and duration of colchicine treatment until its cessation was shorter (p= 0.007) in group 1 than group 2. <h3>Conclusion</h3> Even though the results of our study are not satisfactory enough to endorse the hypothesis that colchicine may be discontinued by close follow-up; older age and long duration of colchicine treatment before cessation may be two important features that should be considered in the future studies. <h3>References</h3> [1] Sonmez HE, Batu ED, Bilginer Y, Ozen S. Discontinuing colchicine in symptomatic carriers for MEFV (Mediterranean FeVer) variants. Clin Rheumatol. 2017;36(2):421-5. [2] Ben-Zvi I, Krichely-Vachdi T, Feld O, Lidar M, Kivity S, Livneh A. Colchicine-free remission in familial Mediterranean fever: featuring a unique subset of the disease-a case control study. Orphanet J Rare Dis. 2014;9:3. <h3>Acknowledgement</h3> None <h3>Disclosure of Interests</h3> None declared
PB2016 RESULTS OF TREATMENT PATIENTS OF MANTLE CELL LYMPHOMA DEPENDING ON THE MUTATIONAL STATUS OF THE TP53 GENE
Authors: D. Koroleva, E. Zvonkov, N. Gabeeva, A. Smolyaninova, O. Gavrilina, O. Shchetsova, B. Biderman, S. Tsygankova, E. Bulygina, S. Rastorguev, A. Nedoluzhko, A. Sudarikov, A. Kovrigina, I. Galtseva, T. Obukhova, L. Kuzmina, E. Parovichnikova, V. Savchenko
Journal: HemaSphere (2019)

Background: According to a retrospective study published data in 2017 by the Nordic MCL group, in multivariable analyses, only mutation TP53 showed independent prognostic impact. The median OS for the TP53‐ mutated cases was 1.8 years, median PFS was 0.9 years. Aims: To assess the incidence of TP53 gene mutation and survival in pts with MCL during of prospective trial MCL‐RUS‐2016. Methods: A total 25 pts were enrolled in prospective study MCL‐RUS‐2016 between 2016 to 2019 years. The median age was 52 years (range, 33 to 71 years). Seven pts (28%) were over the age of 60 years. Male:female = 15:10. In all pts the Ann Arbor stage was 4. Among 25 pts in depend pretreatment MIPI score, 36%, 48% and 16%, respectively, were considered as being at low, intermediate and high risk. Seven (28%)of 25 pts had blastoid MCL. Mutation of the TP53 gene determined using by Sanger sequencing of the coding region (exons 1(2)‐11) was present in 4 (16%) pts ( TP53 mut). Another 21 pts (84%) had wild type mutational status ( TP53 wt). Complex karyotype (CK) was indentified in 8 (32%) pts. Three pts had the mutation of p53 and CK. Deletion of 17p was present in 4 (16%) pts, but only 3 of 4 cases with 17p loss displayed TP53 mutation. Results: Eighteen pts ( TP53 wt) reseived 4 cycles of alternating of rituximab, bendamustine, cytarabine (R‐BAC) and rituximab, high dose cytarabine 12 g/m 2 (R‐HA), followed by stem cell mobilization and ASCT. MRD was not detected in all 18 pts at the end of therapy. Eighteen pts achieved and remain in complete remission and 3 pts continue on treatment. The median follow‐up time was 5 months after ASCT (range, 1‐17 months). Pts with MCL, who have TP53 mutations, had a worse prognosis. Two pts with TP53 mutation in our study died for progression disease. Two pts, who underwent allo‐HCT from non‐relative HLA‐matched donors, is a alive in CR, with the time of observation three and twenty‐seven months. Summary/Conclusion: The regimens R‐BAC/R‐HA was well tolerated with a manageable safety profile. Allogeneic hematopoietic cell transplantation is only curative treatment for MCL with TP53 gene mutation.
Abstract 10874: O-Linked β-N-acetylglucosamine Modification is Increased in Freshly Isolated Human Endothelial Cells in Type 2 Diabetes
Authors: Nobuyuki Masaki, Feng Bihua, Rosa Breton-Romero, Jessica L Fetterman, Elica Inagaki, Brittany D Berk, Erika A Linder, Robert M Weisbrod, Monika Holbrook, Naomi M Hamburg
Journal: Circulation (2015)

Background: Diabetes mellitus (DM) is characterized by hyperglycemia that may contribute to abnormal vascular function. High glucose levels upregulate the hexosamine biosynthesis pathway leading to protein glycosylation with O-linked N-acetylglucosamine (O-GlcNAc). We sought to investigate the functional relevance of O-GlcNAc modification to endothelial dysfunction in DM. Method and Results: Freshly isolated endothelial cells obtained by J-wire biopsy from patients with DM had impaired insulin-mediated eNOS phosphorylation at Ser1177 compared to controls. Incubation in normal glucose conditions (5mM, 24hours) restored insulin-mediated eNOS phosphorylation in endothelial cells from patients with DM whereas insulin resistance persisted in high glucose conditions (30mM), suggesting a link between glucose levels and endothelial insulin resistance. Endothelial O-GlcNAc level was higher in diabetes patients compared to healthy controls (22±8 vs 12±5%, N=18/10, P=0.003, Figure A). Higher endothelial O-GlcNAc levels correlated with higher body mass index (P= 0.03), fasting blood glucose (P=0.01), HbA1C (P=0.02), and triglycerides (P=0.01). Normal glucose conditions lowered O-GlcNAc levels in endothelial cells isolated from patients with DM (P=0.028, Figure B). Ongoing studies are evaluating the effect of agents that reducing O-GlcNAc on insulin-mediated eNOS phosphorylation. Conclusion: Our results provide evidence that O-GlcNAc is more abundant in the endothelium of diabetic patients and glucose normalization reduces O-GlcNAc and improves reaction to insulin. Further work is needed to determine the contribution of O-GlcNAc modification to vascular disease in diabetes.
AB0670 INTESTINAL ANGIODISPLASIAS IN THE PATIENT WITH SYSTEMIC SCLEROSIS
Authors: Carolina Merino Argumánez, Olga Rusinovich, María Espinosa, Consuelo Ramos Giráldez, Carmen Barbadillo Mateos, José Luis Andréu Sánchez, Hilda Godoy
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background:</h3> Gastric angiodysplasia and the typical "watermelon stomach" aspect is one of the most characteristic vascular manifestations in systemic sclerosis (SS). These angiodysplasias can affect the intestine ocasionally as well as the stomach. <h3>Objectives:</h3> Description of a series of 5 patients with systemic sclerosis and presence of intestinal angiodysplasia (IA). <h3>Methods:</h3> Retrospective unicentric observational study in a tertiary hospital. Demographic data, comorbidities, manifestations of the disease, serological profile, concomitant treatments and bleeding manifestations, as well as endoscopic findings and received treatment were collected. Descriptive statistics was used to present the data. <h3>Results:</h3> We reviewed the medical records of the 88 patients with a diagnosis of SS followed up in the Rheumatology Service. Five cases (5.6%) of IA were identified (4 women and one male), with a mean age of 73 years (SD 13.71). In one case, the diagnosis of SS and IA was simultaneous. In the remaining 4 cases, the mean time from the diagnosis of ES to the diagnosis of the IA was 7.75 years (SD 2.6). Regarding the clinical presentation, 4 of the cases presented as anemia with iron deficiency. In these cases IA were found in the endoscopic studies. In one case, IA were a finding in the context of the study of diarrhea. In 4 of the cases, the IA were in the small intestine, so the diagnosis was made using an endoscopic capsule. In one case they were found in the colon, so the diagnosis was by colonoscopy. Only one of the cases of angiodysplasias in the small intestine required specific treatment with argon laser by enteroscopy. One case required a transfusion of packed red blood cells. In the remaining cases, treatment with oral or intravenous iron therapy was enough. In all 5 cases, it was a limited form of the SS with the presence of anticentromere antibodies. All cases presented Raynaud's phenomenon, 3 of them with digital ulcers. Three of the cases associated primary biliary cholangitis, 3 cases pulmonary hypertension, 3 cases peristaltic involvement, 1 case interstitial lung disease and 1 case restrictive cardiomyopathy. As comorbidities, we identified 1 case of essential mixed cryoglobulinemia associated with hepatitis C virus, 2 cases of valvular heart disease, 2 cases of atrial fibrillation. <h3>Conclusion:</h3> The extragastric localization of the angiodysplasias should be taken into account in the patient with SS and iron deficiency, especially in those with a limited form of the illness and positive anticentromere antibodies <h3>Disclosure of interests:</h3> Carolina Merino argumánez: None declared, Olga Rusinovich: None declared, María Espinosa: None declared, Consuelo Ramos Giráldez Speakers bureau: Sanofi, Carmen Barbadillo Mateos: None declared, José Luis andréu Sánchez: None declared, Hilda Godoy: None declared
Abstract 15332: Beneficial Effects of Iron Carboxymaltose in Patients With Pulmonary Arterial Hypertension and Iron Deficiency During Long-Term Follow-Up
Authors: Tilmann T Kramer, Kristiana Natsina, Thomas Viethen, Felix Gerhardt, Daniel Dumitrescu, Stephan Baldus, Stephan Rosenkranz
Journal: Circulation (2017)

Introduction: Pulmonary arterial hypertension (PAH) is a progressive disease with limited prognosis. Iron deficiency (ID) correlates in PAH patients with disease severity and mortality. Oral iron r...
AB0537 CHRONIC DAMAGE CONTRIBUTION TO COGNITIVE IMPAIRMENT IN PRIMARY ANTIPHOSPHOLIPID SYNDROME
Authors: Gabriela Medina, Judith Rodríguez Torres, Antonio Montiel Rivera, Erik Cimé Aké, Miguel A. Saavedra, María Pilar Cruz Domínguez, Olga Lidia Vera Lastra, Luis Javier Jara
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background:</h3> There is a gamut of affections at neurological level in patients with primary APS (PAPS) including cognitive impairment (CI). It presents in middle age population carrying a high risk of dementia. <h3>Objectives:</h3> To analyze the impact of chronic damage in CI and its associated factors in patients with PAPS. <h3>Methods:</h3> Cross-sectional study in patients with PAPS (Sidney criteria). Demographic, clinical data, comorbidities and treatment were investigated. For the diagnosis of CI, MoCA version 8.1 questionnaire was employed and HAD questionnaire for depression screening. Patients were divided into 2 groups: with and without CI. Chronic damage was measured with DIAPS, considering chronic damage as the damage established for over 6 months and with a score ≥1. Descriptive statistics, and chi square test were used. <h3>Results:</h3> Sixty PAPS patients were included, 76.7% were females. Clinical characteristics, associated risk factors and cognitive assessment by domain in both groups are shown in table 1.Only 1 patient presented depression and 3 had anxiety/depression by HAD test. Mild CI was present in 61.7%, moderate CI in 6.7% and no CI in 31.7%. Median DIAPS score was 3,Interquartile Range 2-5.75.Thirty patients with CI had a DIAPS score ≥3 (p=007). Persistence of positivity for aCL was associated to CI (p=0.004) <h3>Conclusion:</h3> The high score of DIAPS and persistence of aCL were associated with CI in PAPS. Chronic stress generated by accumulated chronic damage coupled with APS vasculopathy may contribute to cognitive deterioration. Prevention of chronic damage as well as a cognitive intervention are necessary in order to decrease CI. <h3>References</h3> [1] Tektonidou MG, Varsou N, Kotoulas G, et al. Cognitive deficits in patients with antiphospholipid syndrome. Association with clinical, laboratory, and brain magnetic resonance imaging findings. Arch Intern Med 2006; 166: 2278 – 84. [2] Kozora E, Erkan D, Zhang L, et al. Cognitive dysfunction in antiphospholipid antibody (aPL)-negative systemic lupus erythematosus (SLE) versus aPL-positive non-SLE patients. Clin Exp Rheumatol 2014; 32: 34 – 40. <h3>Disclosure of Interests:</h3> None declared
SP0202 WHAT DOES REMISSION MEAN FOR PHYSICIANS?
Authors: Laure Gossec
Journal: Annals of the Rheumatic Diseases (2019)

<h3></h3> Remission is the announced objective is rheumatoid arthritis. However, there are several definitions of remission. In this talk, we will review different health professional based definitions of remission, the components of these definitions, and their advantages and drawbacks. <h3>Disclosure of Interests:</h3> Laure Gossec Grant/research support from: AbbVie, BMS, Celgene, Janssen, Lilly, MSD, Novartis-Sandoz, Pfizer, Sanofi, and UCB, Consultant for: AbbVie, Biogen, BMS, Celgene, Janssen, Lilly, MSD, Nordic Pharma, Novartis-Sandoz, Pfizer, Roche, Sanofi, and UCB, Consultant for: L Gossec has received honoraria from Celgene as investigator for this study
AB1230 DISEASE ACTIVITY OF RHEUMATIC DISEASES DURING PREGNANCY COMPARED TO REPORTED DISEASE ACTIVITYPRIOR TO PREGNANCY AS OBTAINED FROM AN ANTENATAL RHEUMATOLOGY OBSTETRIC COMBINED CLINIC AND MODE OF DELIVERY
Authors: Euthalia Roussou, Josie O’heney, Victoria Sampson, Asma Aziz
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background</h3> A Rheumatology Obstetrics Care Clinic (ROCC) was established at our ante natal unit to ensure specialist care for women with complex rheumatological conditions (RC). Although patients are often counselled about a likely improvement in their RC in pregnancy, this was not the experience of our patients' group from the ROCC. <h3>Objectives</h3> To obtain pregnant women with RC disease activity (DA) scores during and prior to pregnancy. To assess modes of delivery (MoD) and compare them to our general non arthritic population MoD. <h3>Methods</h3> Patients suffering from any RC attending a dedicated highly specialized antenatal ROCC were given 2 separate 10cm visual analogue scales (VAS) asking them to grade on each one of them the current ( at ROCC) DA and their perceived DA prior to pregnancy. Electronic delivery records were used to collect obstetric and foetal outcomes. SPSS was used for statistical analysis and chi square to assess the difference between the 2 groups. <h3>Results</h3> Data from 54 patients who attended the ROCC included of whom 50 were analyzed. At the time of presentation mean age ( ±sd) was 33.4 years (± 4.29) range 22-43y while age of disease presentation was 25.5 ( ±8.06). The weeks (w) of pregnancy during ROCC were (mean) 22.2 (±8.6) range 8-37 w. ESR (mean) was 27 mmHg (± 21.7), CRP 13.6 mg/L( ±14.18). DA at presentation on VAS was 4.24cm (± 2.8) and prior to pregnancy was 4.24cm (± 3.07). The recorded diseases were: Connective Tissue Diseases (CTD)=n= 18 (33.3%) Spondylo-arthropathies (SpA) n=16 (29.6%),Rheumatoid Arthritis (RA)n =9 (16.7%), Antiphospholipid Syndrome (APS) n=7 (13%) and other n=4 (7%) The group of other (Still's disease 1, Juvenile idiopathic arthritis 1, fibromyalgia 1 and knee pain 1) were excluded from analysis. Looking at the disease groups RA and SpA patients' showed a reduction in the reported DA during pregnancy while CTDs and APS showed an increase; neither was statistically significant (ss). Delivery outcomes available on 35 patients revealed that 25 of 35 RC patients (71.4%) achieved a vaginal delivery with 5 of 25 (20%) requiring assisted delivery and 10 of 35 (28.5%) had a Caesarean section (CS). These percentages are comparable with non arthritic patients. <h3>Conclusion</h3> In our group of pregnant patients with RC the overall DA is the same during pregnancy and prior to conception. DA according to diseases showed that women with RA and SpA had a reduction in DA and those with CTDs and APS had an increase. The MoD showed similar percentages in vaginal and CS delivery rates as per healthy population suggesting that MoD is not impacted by RC. <h3>Acknowledgement</h3> Patients for filling the ROCC questionnaire <h3>Disclosure of Interests</h3> None declared
Revisiting, Reframing, and Casting a New Light on Liberation From Mechanical Ventilation
Authors: Timothy D. Girard, Karen E. A. Burns
Journal: JAMA (2019)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
β-Catenin Activation Promotes Immune Escape and Resistance to Anti–PD-1 Therapy in Hepatocellular Carcinoma
Authors: Marina Ruiz de Galarreta, Erin Bresnahan, Pedro Molina-Sánchez, Katherine E. Lindblad, Barbara Maier, Daniela Sia, Marc Puigvehi, Verónica Miguela, María Casanova-Acebes, Maxime Dhainaut, Carlos Villacorta-Martin, Aatur D. Singhi, Akshata Moghe, Johann von Felden, Lauren Tal Grinspan, Shuang Wang, Alice O. Kamphorst, Satdarshan P. Monga, Brian D. Brown, Augusto Villanueva, Josep M. Llovet, Miriam Merad, Amaia Lujambio
Journal: Cancer Discovery (2019)

PD-1 immune checkpoint inhibitors have produced encouraging results in patients with hepatocellular carcinoma (HCC). However, what determines resistance to anti-PD-1 therapies is unclear. We created a novel genetically engineered mouse model of HCC that enables interrogation of how different genetic alterations affect immune surveillance and response to immunotherapies. Expression of exogenous antigens in MYC;Trp53 -/- HCCs led to T cell-mediated immune surveillance, which was accompanied by decreased tumor formation and increased survival. Some antigen-expressing MYC;Trp53 -/- HCCs escaped the immune system by upregulating the β-catenin (CTNNB1) pathway. Accordingly, expression of exogenous antigens in MYC;CTNNB1 HCCs had no effect, demonstrating that β-catenin promoted immune escape, which involved defective recruitment of dendritic cells and consequently impaired T-cell activity. Expression of chemokine CCL5 in antigen-expressing MYC;CTNNB1 HCCs restored immune surveillance. Finally, β-catenin-driven tumors were resistant to anti-PD-1. In summary, β-catenin activation promotes immune escape and resistance to anti-PD-1 and could represent a novel biomarker for HCC patient exclusion. SIGNIFICANCE: Determinants of response to anti-PD-1 immunotherapies in HCC are poorly understood. Using a novel mouse model of HCC, we show that β-catenin activation promotes immune evasion and resistance to anti-PD-1 therapy and could potentially represent a novel biomarker for HCC patient exclusion.See related commentary by Berraondo et al., p. 1003.This article is highlighted in the In This Issue feature, p. 983.
FRI0427 IS THE CLINICAL AND THERAPEUTIC PROFILE RELATED TO SATISFACTORY RESPONSE TO APREMILAST IN PSORIATIC ARTHRITIS?
Authors: Isabel de la Morena, María Espinosa, Hilda Godoy Tunidor, À Martínez-Ferrer, Carlos Santos Ramirez, Anna Martinez, Meritxell Fernandez Matilla, Nagore Fernández-Llanio, Deseada Palma Sanchez, Maria Jose Moreno, Ana Haro, Arantxa Conesa, Javier Calvo
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Objectives</h3> To identify the factors that are related with response to Apremilast(APR) in Psoriatic Arthritis(PsA). <h3>Methods</h3> An observational and analytical multicenter retrospective study. There are included PsA patients treated with APR after two years of commercialization. Clinical and demographic data were collected: disease duration, previous treatments, cutaneous and joint involvement pattern defined as: joint exclusively, non joint and mixed (by several domains combination). It was collected: duration of treatment, tolerance, adverse events, and reason for APR choice: intolerance or toxicity to csDMARD, preference before bDMARD contraindication or caution to bDMARD, csDMARD and bDMARD inefficacy, csDMARD and bDMARD intolerance. The effectiveness was considered as a dicotomic variable (Yes/No) by clinical criteria. <h3>Results</h3> There were included 89 patients, 46(51.7%) males, the mean age was 53.99±12.3 years, and the PsA disease duration was 7.28±6.25 years. The PsA pattern was: joint 29(32.6%), non joint, 12(13.5%) and mixed 48(53.9%). The reason for APR choice was: intolerance or toxicity to cDMARD 13 patients, preference before BT 28, contraindication or caution to BT 22, inefficacy to cDMARD or BT 18, intolerance to cDMARD and BT 1, and due to clinical profile 1. After a mean treatment duration with APR of 8.13(0-23) months a total of 33 withdrawals were found (17 due to inefficacy and 16 due to intolerance), treatment was mantained on them a mean of 4.3(0-12) months. 56 patients keep with APR a mean of 10.4(2-23) months, 22 of them among 1 and 2 years of evolution. The treatment was effective in 61(68.5%) patients. Comparisons of the different variables analyzed did not show significative differences among the responders and non responders patients. <h3>Conclusion</h3> We have not found a specific profile that relates with a satisfactory response to APR. <h3>Disclosure of Interests</h3> Isabel de la Morena Speakers bureau: Abbvie, Celgene, Pfzier, UCB, Ghebro, Roche, Sanofi, Janssen., María Espinosa: None declared, Hilda Godoy Tunidor: None declared, À Martínez-Ferrer: None declared, Carlos Santos Ramirez: None declared, Anna Martinez: None declared, Meritxell Fernandez Matilla: None declared, Nagore Fernández-Llanio: None declared, DESEADA PALMA SANCHEZ: None declared, Maria jose Moreno: None declared, Ana HARO : None declared, Arantxa Conesa: None declared, Javier Calvo Consultant for: Abbvie, Celgene, Pfzier, UCB, Ghebro, Roche, Sanofi, Janssen, Novartis, Amgen., Speakers bureau: Abbvie, Celgene, Pfzier, UCB, Ghebro, Roche, Sanofi, Janssen, Novartis, Amgen.