Lipoprotein(A) Concentrations In Rheumatoid Arthritis On Biologic Therapy: Results From The Cardiovascular In Rheumatology [Carma] Study Project

Background Plasma concentrations of lipoprotein (a) (Lp(a)), a lipoprotein with atherogenic and thrombogenic properties, have a strong genetic basis, although high concentrations of Lp(a) have also been reported in the context of inflammation, as in rheumatoid arthritis (RA). Few studies evaluate the impact of biologic therapies (BT) on Lp(a) in RA, taking into account that with these new therapies a better control of inflammation is achieved. Objective The aim of the study was to evaluate the plasma concentrations of Lp(a) in Spanish RA patients on BT attending rheumatology outpatient clinics. Methods Baseline analysis of the CARdiovascular in rheuMAtology project, a 10-year prospective study, evaluating the risk of cardiovascular events in RA and other forms of inflammatory arthritis. RA patients were classified according to treatment: no biologic, anti-tumor necrosis factor, anti-interleukin-6 receptor tocilizumab (TCZ), and other biologic (rituximab or abatacept). A model of linear multivariate regression was built in which the dependent variable was Lp(a) concentration and the explanatory variable was BT. The model was adjusted for confounding factors. Results Seven hundred and seventy-five RA patients were analyzed. Plasma concentrations of total cholesterol and triglyceride were significantly higher in TCZ-treated patients. Nevertheless, no significant difference in the atherogenic index between TCZ-treated patients and patients without BT was found. After adjusting for confounding factors, patients with BT had lower concentrations of Lp(a) than those without BT; however, only TCZ-treated patients achieved statistically significant differences (?: ?0.303, 95% confidence interval: ?0.558 to ?0.047; P = .02). Conclusions RA patients treated with TCZ show lower plasma concentrations of Lp(a) compared with patients without BT.This project has been supported by an unrestricted grant from Abbvie, Spain. The design, analysis, interpretation of results, and preparation of the article have been done independently of Abbvie. Dr González-Gay's studies have been supported by grants from “Fondo de Investigaciones Sanitarias” PI06/0024, PS09/00748, and PI12/00060 and RD12/0009/0013 (RIER) from “Instituto de Salud Carlos III” (ISCIII) (Spain)

Simplifying the detection of MUTYH mutations by high resolution melting analysis

<p>Abstract</p> <p>Background</p> <p><it>MUTYH</it>-associated polyposis (MAP) is a disorder caused by bi-allelic germline <it>MUTYH </it>mutation, characterized by multiple colorectal adenomas. In order to identify mutations in <it>MUTYH </it>gene we applied High Resolution Melting (HRM) genotyping. HRM analysis is extensively employed as a scanning method for the detection of heterozygous mutations. Therefore, we applied HRM to show effectiveness in detecting homozygous mutations for these clinically important and frequent patients.</p> <p>Methods</p> <p>In this study, we analyzed phenotype and genotype data from 82 patients, with multiple (>= 10) synchronous (19/82) or metachronous (63/82) adenomas and negative <it>APC </it>study (except one case). Analysis was performed by HRM-PCR and direct sequencing, in order to identify mutations in <it>MUTYH </it>exons 7, 12 and 13, where the most prevalent mutations are located. In monoallelic mutation carriers, we evaluated entire <it>MUTYH </it>gene in search of another possible alteration. HRM-PCR was performed with strict conditions in several rounds: the first one to discriminate the heteroduplex patterns and homoduplex patterns and the next ones, in order to refine and confirm parameters. The genotypes obtained were correlated to phenotypic features (number of adenomas (synchronous or metachronous), colorectal cancer (CRC) and family history).</p> <p>Results</p> <p><it>MUTYH </it>germline mutations were found in 15.8% (13/82) of patients. The hot spots, Y179C (exon 7) and G396D (exon 13), were readily identified and other mutations were also detected. Each mutation had a reproducible melting profile by HRM, both heterozygous mutations and homozygous mutations. In our study of 82 patients, biallelic mutation is associated with being a carrier of ≥10 synchronous polyps (p = 0.05) and there is no association between biallelic mutation and CRC (p = 0.39) nor family history (p = 0.63). G338H non-pathogenic polymorphism (exon 12) was found in 23.1% (19/82) of patients. In all cases there was concordance between HRM (first and subsequent rounds) and sequencing data.</p> <p>Conclusions</p> <p>Here, we describe a screening method, HRM, for the detection of both heterozygous and homozygous mutations in the gene encoding <it>MUTYH </it>in selected samples of patients with phenotype of MAP. We refine the capabilities of HRM-PCR and apply it to a gene not yet analyzed by this tool. As clinical decisions will increasingly rely on molecular medicine, the power of identifying germline mutations must be continuously evaluated and improved.</p

Endoscopic Submucosal Dissection. Sociedad Española de Endoscopia Digestiva (SEED) clinical guideline

The reason to write this guideline is to familiarize Spanish endoscopists and gastroenterologists not only with the general indications of the procedure and possible complications but also the dedicated tools

Plan de emerxencias. Fundación Pública Urxencias Sanitarias de Galicia-061

A Fundación Pública Urxencias Sanitarias de Galicia-061 é a encargada de proporcionar, desde o momento que ocorre a emerxencia, un control da situación, unha primeira avaliación e unha asistencia sanitaria que logre salvar o maior número de vidas e volver á normalidade o antes posible. Para isto, a actuación sanitaria debe seguir unha metodoloxía perfectamente establecida, xa que as actuacións organizadas son as mellores ferramentas de traballo. Así pois, é necesario posibilitar normas de actuación o máis protocolizadas posible, para poder traballar nas mellores condicións de seguridade e manter unhas directrices xerais, onde cada persoa coñeza tanto a súa función como a do resto dos componentes do equipo, procedendo, ademais, á súa identificación funcional mediante signos externos (uniformidade, carteis, identificación, etc.); para facilitar o entendemento e a coordinación de todos os implicados en resolver a situación acaecida. Con este fin, preséntase o Plan de emerxencias que a continuación se expón, nun afán de dar sempre a mellor e máis axeitada resposta; obxectivo primordial desde que a FPUS de Galicia–061 se instaura como responsable da medicina prehospitalaria na nosa comunidade autónoma.La Fundación Pública Urxencias Sanitarias de Galicia-061 es la encargada de proporcionar, desde el momento en que ocurre la emergencia, un control de la situación, una primera evaluación y una asistencia sanitaria que logre salvar el mayor número de vidas y volver a la normalidad lo antes posible. Para esto, la actuación sanitaria debe seguir una metodología perfectamente establecida, ya que las actuaciones organizadas son las mejores herramientas de trabajo. Así pues, es necesario posibilitar normas de actuación lo más protocolizadas posible, para poder trabajar en las mejores condiciones de seguridad y mantener unas directrices generales, donde cada persona conozca tanto su función como la del resto de los componentes del equipo, procediendo, además, a su identificación funcional mediante signos externos (uniformidad, carteles, identificación, etc.); para facilitar el entendimiento y la coordinación de todos los implicados en resolver la situación acaecidad. Con este fin, se presenta el Plan de emergencias que a continuación se expone, en un afán de dar siempre la respuesta mejor y más idónea; objetivo primordial desde que la FPUS de Galicia-061 se instaura como responsable de la medicina prehospitalaria en nuestra comunidad autónoma

Colonic endoscopic full-thickness resection (EFTR) with the over-the-scope device (FTRD): a short case series

The endoscopic treatment of early gastrointestinal neoplasms usually involves the resection of the superficial layers, mucosa and submucosa, of the wall. However, in some circumstances, a full-thickness resection may be necessary. Endoscopic full-thickness resection (EFTR) may be an adequate approach in challenging lesions such as adenomas or early cancers with severe submucosal fibrosis or small sub-epithelial lesions in the lower GI tract. Furthermore, this novel technique has the potential to spare surgical therapy in a subset of cases. In this paper, we describe our results with the full-thickness resection device (FTRD) in three different situations