tbuckley/cabot-search huggingface dataset:
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal <i>NOD2</i> Mosaicism
Authors: Anna Mensa‐Vilaro, Weng Tarng Cham, Swee Ping Tang, Sern Chin Lim, Eva González‐Roca, Estibaliz Ruiz‐Ortiz, Roziana Ariffin, Jordi Yagüe, Juan I. Aróstegui
Journal: Arthritis & Rheumatology (2015)

Blau syndrome is characterized by noncaseating granulomatous arthritis, dermatitis, and uveitis, and results from gain-of-function NOD2 mutations. This study was undertaken to identify the genetic cause of the disease in a family with 3 members with Blau syndrome.We studied a family with 3 affected members across 2 consecutive generations. The children's symptoms started early (at 6 and 7 months of age) and included polyarthritis, dermatitis, uveitis, and fever. In contrast, the father's symptoms started later (at 22 years of age) and included noncaseating granulomatous dermatitis and uveitis. We analyzed the NOD2 gene in all patients by both the Sanger method of DNA sequencing and amplicon-based deep sequencing using an Ion Torrent PGM platform.Sanger chromatograms revealed the heterozygous c.1001G>A transition in both children, which resulted in the p.Arg334Gln mutation that causes Blau syndrome. In contrast, the father's chromatograms revealed a small peak of adenine at the c.1001 position, suggesting the presence of a somatic NOD2 mutation. To evaluate this hypothesis, we performed amplicon-based deep sequencing using DNA from different tissues, which confirmed a variable degree (0.9-12.9%) of somatic NOD2 mosaicism. The previous detection of the NOD2 mutation in his daughters strongly suggests the presence of gonosomal (somatic plus gonadal) NOD2 mosaicism in the father. Comparative analyses with Blau syndrome patients carrying the germline p.Arg334Gln NOD2 mutation revealed late onset of the disease, a mild inflammatory phenotype, and an absence of complications in patients with NOD2 mosaicism.This is the first description of gonosomal NOD2 mosaicism as the cause of intrafamilial recurrence of Blau syndrome. Our findings also indicate that Blau syndrome includes more diverse and milder phenotypes than previously described.
AB0700 Evaluation of Primary Biliary Cirrhosis and Anti-Mitochondrial Autoantibodies in Patients with Systemic Sclerosis
Authors: G. Sargin, T. Senturk, S. Borazan, A. Coskun
Journal: Annals of the Rheumatic Diseases (2015)

<h3>Background</h3> Systemic sclerosis (SSc) associated with primary biliary cirrhosis (PBC) is called Reynold9s syndrome. The mechanism between these orders is not clearly understood. Anti-mitochondrial antibody (AMA) for PBC may be detected in 25% of SSc patients (1). <h3>Objectives</h3> To analyze PBC and AMA in patients with SSc. <h3>Methods</h3> In the period between April 2012 and January 2015, forty-two patients who admitted to our rheumatology clinic with the diagnosis of SSc according to the criteria of "EULAR/ACR" were enrolled. Clinical and demographic datas were obtained retrospectively, Age, sex, hematological, biochemical and autoimmune serology such as anti-nuclear, anti-mitochondrial, anti-Scl-70 and centromere antibodies were evaluated. Primary biliary cirrhosis was diagnosed with abnormal liver and <i>cholestatic parameters, AMA</i> and confirmed by liver biopsy. Mann-Whitney U and chi-square tests were performed as statistical analysis. <h3>Results</h3> Seven patients with the limited SSc were female. (Female/Male: 3,5). The ratio for diffuse SSC was 1,2. Mean age for diffuse SSc was 46,3±9,6 years. Limited SS was found in 9 patients (21,4%), while the remaining patients (n=33) had diffuse SS. Esophageal, cardiac, and lung involvement was found in 13, 21, and 23 patients, respectively. AMA, anti-Scl-70, and anti-centromere antibodies were detected in 7,1%, 28,3% and %43,7% patients with diffuse SSc. All of PBC had also diffuse SSc disease. There was elevated hepatic parameters such alkaline phosphatase, gamma-glutamyl transpeptidase, and hepatomegaly proven by ultrasonography in all patients with PBC. Also, there were strongly association between AMA and anti- centromere antibodies in patients with diffuse SSc (p=0,001). We found calcinosis less frequently in Reynold9s syndrome. <h3>Conclusions</h3> Autoimmune diseases may be associated with other autoimmune diseases. The combination of SSc and PBC is rare. However, the rheumatologist should kept in mind Reynold9s syndrome for early diagnosis and therapy. <h3>References</h3> Chou MJ, et al. Reactivity of anti-mitochondrial antibodies in primary biliary cirrhosis and systemic sclerosis. J Formos Med Assoc 1992;91:1075-80. <h3>Disclosure of Interest</h3> None declared
Prolactin, cortisol, and antidepressant treatment
Authors: G A Fava, J Lisansky, M T Buckman, R Kellner, D Pathak, M Fava, G T Peake
Journal: American Journal of Psychiatry (1988)

In four depressed patients with abnormal dexamethasone suppression test results before treatment, plasma prolactin levels significantly increased after successful amitriptyline therapy. Such an increase did not take place in five depressed patients with normal dexamethasone suppression test findings.
Molecular Pathways: Endothelial Cell FAK—A Target for Cancer Treatment
Authors: Marina Roy-Luzarraga, Kairbaan Hodivala-Dilke
Journal: Clinical Cancer Research (2016)

The nonreceptor protein tyrosine kinase, focal adhesion kinase (FAK, also known as PTK2), is a key mediator of signal transduction downstream of integrins and growth factor receptors in a variety of cells, including endothelial cells. FAK is upregulated in several advanced-stage solid tumors and has been described to promote tumor progression and metastasis through effects on both tumor cells and stromal cells. This observation has led to the development of several FAK inhibitors, some of which have entered clinical trials (GSK2256098, VS-4718, VS-6062, VS-6063, and BI853520). Resistance to chemotherapy is a serious limitation of cancer treatment and, until recently, most studies were restricted to tumor cells, excluding the possible roles performed by the tumor microenvironment. A recent report identified endothelial cell FAK (EC-FAK) as a major regulator of chemosensitivity. By dysregulating endothelial cell-derived paracrine (also known as angiocrine) signals, loss of FAK solely in the endothelial cell compartment is able to induce chemosensitization to DNA-damaging therapies in the malignant cell compartment and thereby reduce tumor growth. Herein, we summarize the roles of EC-FAK in cancer and development and review the status of FAK-targeting anticancer strategies. Clin Cancer Res; 22(15); 3718-24. ©2016 AACR.
How Should Isolated Gastric Fundal Varices Be Treated?
Authors: A. Matsumoto, M. Matsushita, H. Inokuchi
Journal: Endoscopy (2003)

We read with interest the article by Seewald et al. on recent progress in the management of esophagogastric varices [1]. When treating gastric varices, we should take into account the fact that the behavior of these varices varies according to their location. Because most isolated fundal varices originate from the short and/or posterior gastric veins, and drain into a developed gastrorenal shunt, the portal venous pressure in patients with large fundal varices is quite low, whereas the collateral flow into the fundal varices is abundant [2].
AB0295 The Relationship Between Formal Education Level and Delay in Diagnosis and Disease Activity in Patients with Rheumatoid Arthritis
Authors: M.F. Oksuz, F. Yıldırım, A.B. Sahin, A. Gocken, A.N. Tufan, N. Orucoglu, E. Dalkilic, Y. Pehlivan
Journal: Annals of the Rheumatic Diseases (2015)

<h3>Background</h3> Rheumatoid arthritis (RA) is a chronic inflammatory disease which can cause serious joint deformity and loss of manpower in situation of delay in diagnosis and treatment. In recent years, for many diseases, the effects of the factors such as formal education level, socio-economic status on the activity and the course of the diseases have been studied <h3>Objectives</h3> In this study we aimed to analyze the effect of formal education level on the disease activity and course of the disease in patients with RA in Turkish population. <h3>Methods</h3> The patients, who were followed up in our outpatient clinic, were included consecutively. The patients were performed the multidimensional health assessment questionnaire (MDHAQ) including physical function, pain, global assessment of the patients. Tender and swollen joint counts, global assessment, visual analogue scale (VAS), routine assessment of patient index data 3 (RAPID3), disease activity score 28 (DAS28), demographic data, formal education level, past treatment, clinical and laboratory data of the patients were recorded. In the analysis of correlation between formal education level and delay in diagnosis and disease activity, spearman correlation test and multivariate linear regression analysis were used <h3>Results</h3> In our study 339 patients with RA were included (mean age 52.84±11.29; mean of disease duration 10 years; 80.5% female [n: 273], 19.5% male [n: 66]). The data of formal education level of the patients are in Table 1. In multivariate linear regression analysis, the correlation coefficient (r) was 0.32 and coefficient of determination (r<sup>2</sup>) was 0.1. As a result physical function on a multidimensional health assessment questionnaire (MDHAQ-FN) (t =2.69, p=0.008) and formal education level (t = -4.69 p&lt;0.001) were identified as independent predictors for delay in diagnosis. <h3>Conclusions</h3> In our study, it was found that there was a significant delay in diagnosis of rheumatoid arthritis. The factor, having most powerful relationship with delay in diagnosis was low level of formal education. It also found that delay in diagnosis was associated with loss of functionality. Improving the educational level of our society and increasing the awareness about RA are so important to prevent delay in diagnosis whereby to prevent the loss of functionality relating to the disease <h3>References</h3> Theodore Pincus, Patient Questionnaires and Formal Education as More Significant Prognostic Markers than Radiographs or Laboratory Tests for Rheumatoid Arthritis Mortality Limitations of a Biomedical Model to Predict Long-Term Outcomes C Bengtsson, B Nordmark, L Klareskog, I Lundberg, L Alfredsson, the EIRA study group, Ann Rheum Dis 2005;64:1588–1594 <h3>Disclosure of Interest</h3> None declared
FRI0621-HPR Usefulness of the Telephone Nursing Consultation for the Monitoring of Patients Treated with Subcutaneous Therapy. Two Years of Results
Authors: C. Nájera Herranz, J. Ivorra Cortés, I. Chalmeta Verdejo, L. González Puig, I. Martínez Cordellat, R. Negueroles Albuixech, C. Núñez-Cornejo Piquer, J.L. Valero Sanz, E. Grau Garcia, C.M. Feced Olmos, F.M. Ortiz Sanjuán, E. Labrador Sánchez, K. Arévalo Ruales, G. Poveda Marín, C. Alcañiz Escandell, J.A. Román Ivorra
Journal: Annals of the Rheumatic Diseases (2015)

<h3>Background</h3> Guidelines for monitoring patients with biological therapy require frequent consultations (every 2-4 months) in order to ensure the patient safety. These recommendations involve high use of consultations and interference with the daily and professional life of patients and their family. In this context, nursing telephone consultations can be an efficient alternative for monitoring subcutaneous therapies. <h3>Objectives</h3> To analyze the usefulness of telephone nursing consultations in monitoring patients with subcutaneous therapy. <h3>Methods</h3> We have collected data from all telephone nursing consultations in order to monitor patients with subcutaneous biological therapy from September 2012 to December 2014: clinical data, number of calls, characteristics of the consultation and its resolution, and involvement of rheumatologists in queries. <h3>Results</h3> There were a total of 555 telephone consultations, of which the nurse resolved directly 84.9% of cases. The nurse resolved directly with physician support in 9.7% of cases, a telephone appointment with the rheumatologist was necessary in 1.3% of calls and an in-person appointment with the rheumatologist was necessary in 1.9% of calls. The 2.2% of patients were not located by telephone. Incidents were detected in the 34% of telephone nursing consultation, being the most frequent alterations in analytical parameters or infections. The 30.7% of incidents were referred to other medical specialty, mainly Primary Care. In 69.3% the nurse resolved directly the incidents. <h3>Conclusions</h3> The telephone nursing consultation helps the monitoring of patients with subcutaneous therapy, managing directly the telephone nursing consultation and identifying the incidents. In this way, the nurse avoids unnecessary travels, reduces the number of medical consultations and improves management of hospital resources. <h3>Disclosure of Interest</h3> None declared
Consequences of the 1989 New York State triplicate benzodiazepine prescription regulations
Authors: M Weintraub, S Singh, L Byrne, K Maharaj, L Guttmacher
Journal: JAMA (1991)

<h3>Objective.</h3> —Comparison of psychoactive medication prescribing and Medicaid expenditures before (1987 through 1988) and after (1989 through 1990) institution of the New York State triplicate benzodiazepine regulations. <h3>Data Sources.</h3> —The National Prescription Audit (IMS America, Plymouth Meeting, Pa), New York State Medicaid, and Blue Cross/Blue Shield of the Rochester (NY) Area. <h3>Results.</h3> —From 1988 to 1989, New York State benzodiazepine prescribing decreased by 44%, 60%, and 30% as assessed by IMS America, Medicaid, and Blue Cross/Blue Shield, respectively. Prescribing of the following alternative sedative-hypnotics increased in New York State compared with decreases nationally (IMS America data): meprobamate, +125% vs -9%; methyprylon, +84% vs -15%; ethchlorvynol, +29% vs -18%; butabarbital, +31% vs -15%; hydroxyzine, +15% vs -1.1%; and chloral hydrate, +136% vs - 0.4%. Increased prescribing of alternatives was also seen in the Medicaid and Blue Cross/Blue Shield data. Medicaid benzodiazepine expenditures decreased 52% from 1988 to 1989 ($21.7 million to $10.4 million). Alternative sedative expenditures increased 115% ($3.9 million to $8.4 million). Total Medicaid psychoactive medication expenditures remained nearly constant ($46.7 million to $45.6 million). <h3>Conclusion.</h3> —Although the triplicate regulations have decreased benzodiazepine prescribing, an undesirable increase has occurred in the prescribing of less acceptable medications. The wider public health, patient care, and financial implications of triplicate benzodiazepine regulations are of concern and require further study before other jurisdictions undertake similar programs. (<i>JAMA</i>. 1991;266:2392-2397)
A program of research training in psychiatry: ten-year evaluation and follow-up
Authors: S Fisher, S K Bender
Journal: American Journal of Psychiatry (1975)

Nineteen psychiatrists who participated in the research training program at Boston University School of Medicine from July 1962 to June 1972 were surveyed by questionnaire to determine how participation in the training program may have affected their subsequent professional careers. Results indicate that-probably via a happy combination of self-selection, screening, and the actual experience of research training-these 19 psychiatrists constitute an impressive group who are active in research, publish extensively, and assume substantial teaching responsibilities at medical schools. The authors suggest tha a postresidency program in research training can be extremely important to the development of careers in psychiatric research and to a more scientifically grounded profession.
Psychopathology in male and female intravenous drug users with and without HIV infection
Authors: J D Lipsitz, J B Williams, J G Rabkin, R H Remien, M Bradbury, W el Sadr, R Goetz, S Sorrell, J M Gorman
Journal: American Journal of Psychiatry (1994)

The authors report on results of systematic clinical assessment of psychopathology among HIV-positive and HIV-negative intravenous drug users.As part of a multidisciplinary baseline assessment, 147 male (85 HIV-positive and 62 HIV-negative) and 76 female (39 HIV-positive and 37 HIV-negative) intravenous drug users were evaluated with the Structural Clinical Interview for DSM-III-R and measures of psychiatric symptom severity, global functioning, and stress.Prevalence of a diagnosis of current depression (26%) and severity of depressive and anxiety symptoms in both HIV-positive and HIV-negative subjects were greater than in the general community, but not greater than in other studies of intravenous drug users. HIV-positive men had a higher prevalence of depressive disorders than HIV-negative men (33% and 16%, respectively), although this pattern was not found among women (26% and 30%). Diagnosis of depressive disorders and severity of depressive and anxiety symptoms were associated with a symptom-based measure of HIV illness stage, but not with indices of immune functioning (CD4+ cell count and CD4+ cell percent).Despite selective associations between HIV illness variables and depression, high rates of depression across HIV status in this cohort suggest that intravenous drug use and associated factors are more salient than HIV illness factors in understanding psychopathology in this population.
AB0584 Subclinical Atheromatosis in Patients with Systemic Lupus Erythematosus: Table 1
Authors: L. Riancho-Zarrabeitia, A. Corrales, N. Vegas-Revenga, L. Dominguez-Casas, J. Rueda-Gotor, M. Santos-Gόmez, R. Blanco, M.A. González-Gay
Journal: Annals of the Rheumatic Diseases (2015)

<h3>Background</h3> Patients with systemic lupus erythematosus (SLE) have an increased cardiovascular (CV) risk, probably due to accelerated atherosclerosis. <h3>Objectives</h3> To analyze the prevalence of subclinical CV disease in SLE using carotid ultrasonography. <h3>Methods</h3> We studied 36 SLE patients and 127 age and sex matched controls. Traditional CV risk factors were recorded according to a standardized protocol. Carotid ultrasonography was performed by a MyLab 70 scanner (Esaote; Genoa, Italy), equipped with 7–12 MHz linear transducer and the <i>automated software guided technique radiofrequency</i> – <i>Quality Intima Media Thickness</i> in <i>real</i>-<i>time</i> (<i>QIMT</i>, <i>Esaote</i>, <i>Maastricht</i>, <i>Holland</i>) to determine carotid intima-media thickness (cIMT) and plaques, according to the Mannheim Carotid Intima-Media Thickness Consensus. <h3>Results</h3> No statistically significant differences in the frequency of smoking, hypertension, diabetes mellitus or personal and family history of CV events between patients and controls were found. However, the prevalence of dyslipidemia was increased in SLE (31% vs 16% in controls; p=0.056) and SLE patients had a higher body mass index (BMI) (27.1±5.4 vs 25.2±4.8, p=0.051). The cIMT was also significantly higher in SLE patients when compared to controls (0.644±0.122 vs 0.573±0.113 mm; p=0.001). This difference persisted after adjustment for BMI and dyslipidemia (p=0.009). Moreover, the prevalence of carotid plaques in SLE patients was also increased (42% vs 23% in controls; p=0.033). <h3>Conclusions</h3> Both cIMT and carotid plaque frequency are increased in SLE patients. The presence of carotid plaques identifies individuals at very high cardiovascular risk. Therefore, tight controls of dyslipidemia and other cardiovascular risk factors should be conducted in SLE patients. <h3>Disclosure of Interest</h3> None declared
Disability Components for an Index of Health.
Authors: D F Sullivan
Journal: Annals of Internal Medicine (1972)

Health programs and activities today include a great variety of public and private efforts directed toward both fatal and nonfatal conditions. Most accepted summary measures of a population's health status, on the other hand, are based on death rates alone. They tell little about the health of the living and therefore provide an in-adequate basis for assessing the need for and success of many health measures. Consequently there has been considerable interest in recent decades in the development of summary indexes of health that reflect information on the living population as well as on the level of mortality. A previous report in this series examined the problem of determining what va ~iables might be used in constructing such measures. The re-port emphasized the need to devise indexes suited to specific objectives of measurement, and it focused on the limited goal of developing a more comprehensive index of changing health status for the United States as a whole. For that purpose a single index based on both mortality and morbidity rates was identified as a potentially useful device.
OC-092 Impact of colorectal cancer primary node status on survival following colorectal liver metastases resection
Authors: S Pathak, A AlDuwaisan, L Moore, G Dhawan, GJ Toogood
Journal: Gut (2015)

<h3>Introduction</h3> Overall survival for primary colorectal cancer (CRC) is known to be correlated with primary stage (Duke’s classification), though the effect of primary disease stage once metastatic spread has occurred needs defining. Primary tumour lymph node status has been previously postulated to negatively impact survival following colorectal liver metastases (CLRM) resection.<sup>1</sup> The objective of the study was to determine the relation between primary CRC node status and survival (disease free survival [DFS] and overall survival [OS]) for patients undergoing hepatic resections for CRLM. <h3>Method</h3> Data was collected from a prospectively maintained database of patients undergoing hepatectomy for CRLM between 1 January 2005 and 31 December 2012. Patient demographics, primary CRC staging, operative details, pathology, recurrence and survival data were collected. Primary staging was assessed using the TNM and Dukes grading system, with Dukes A and B classed as node negative, and Dukes C classified as node positive. OS and DFS were analysed using Kaplan-Meier survival curves and log-rank tests. <h3>Results</h3> The study included 866 patients, with a mean age of 66 years [23–91]. Of the sample population, 65.8% were male. Of these, 743 patients had primary tumour staging data available. Patients with node negative primary tumours (Dukes A and B) had a significantly longer OS than patients with node positive disease [Dukes C] (median OS 68 <i>vs</i>43 months, χ<sup>2</sup>p = 0.002). Patients with node negative primaries also had a significantly longer DFS than patients with node positive disease (median DFS 20 <i>vs</i>16 months, χ<sup>2</sup>p = 0.002). <h3>Conclusion</h3> Patients with CRLM who have a Dukes C primary colorectal tumour have a shorter OS and are likely to re-occur earlier post liver resection than those with node negative primary cancer (Dukes A and B). There may be merit in stratifying follow up post CRLM resection, in view of likelihood of recurrent disease. <h3>Disclosure of interest</h3> None Declared. <h3>Reference</h3> Tomlinson J, Jarnagin W, DeMatteo R, <i>et al</i>. Actual 10-year survival after resection of colorectal liver metastases defines cure. J Clin Oncol. 2007;25(29):4575–4580
Influence of Glycemic Index/Load on Glycemic Response, Appetite, and Food Intake in Healthy Humans
Authors: Thomas M.S. Wolever, Jennie C. Brand-Miller
Journal: Diabetes Care (2006)

Recently, Alfenas and Mattes (1) concluded that the differential glycemic responses of foods tested in isolation are not preserved under conditions of chronic ad libitum consumption of mixed meals (1). This conclusion is unwarranted because of serious methodological problems that undermine the validity of their results.

Foods were classified as low–or high–glycemic index by the investigators; the glycemic index of each food was determined in three subjects by measuring glucose four times with a glucose meter and discarding means with inconsistent values. Since white bread …