A deletion at Adamts9-magi1 Locus is associated with psoriatic arthritis risk

Objective: Copy number variants (CNVs) have been associated with the risk to develop multiple autoimmune diseases. Our objective was to identify CNVs associated with the risk to develop psoriatic arthritis (PsA) using a genome-wide analysis approach. Methods: A total of 835 patients with PsA and 1498 healthy controls were genotyped for CNVs using the Illumina HumanHap610 BeadChip genotyping platform. Genomic CNVs were characterised using CNstream analysis software and analysed for association using the χ2 test. The most significant genomic CNV associations with PsA risk were independently tested in a validation sample of 1133 patients with PsA and 1831 healthy controls. In order to test for the specificity of the variants with PsA aetiology, we also analysed the association to a cohort of 822 patients with purely cutaneous psoriasis (PsC). Results: A total of 165 common CNVs were identified in the genome-wide analysis. We found a highly significant association of an intergenic deletion between ADAMTS9 and MAGI1 genes on chromosome 3p14.1 (p=0.00014). Using the independent patient and control cohort, we validated the association between ADAMTS9-MAGI1 deletion and PsA risk (p=0.032). Using next-generation sequencing, we characterised the 26 kb associated deletion. Finally, analysing the PsC cohort we found a lower frequency of the deletion compared with the PsA cohort (p=0.0088) and a similar frequency to that of healthy controls (p>0.3). Conclusions: The present genome-wide scan for CNVs associated with PsA risk has identified a new deletion associated with disease risk and which is also differential from PsC risk

Classification of follicular-patterned thyroid lesions using a minimal set of epigenetic biomarkers

[Objective]: The minimally invasive fine-needle aspiration cytology (FNAC) is the current gold standard for the diagnosis of thyroid nodule malignancy. However, the correct discrimination of follicular neoplasia often requires more invasive diagnostic techniques. The lack of suitable immunohistochemical markers to distinguish between follicular thyroid carcinoma and other types of follicular-derived lesions complicates diagnosis, and despite most of these tumours being surgically resected, only a small number will test positive for malignancy. As such, the development of new orthogonal diagnostic approaches may improve the accuracy of diagnosing thyroid nodules.[Design]: This study includes a retrospective, multi-centre training cohort including 54 fresh-frozen follicular-patterned thyroid samples and two independent, multi-centre validation cohorts of 103 snap-frozen biopsies and 33 FNAC samples, respectively.[Methods]: We performed a genome-wide genetic and epigenetic profiling of 54 fresh-frozen follicular-patterned thyroid samples using exome sequencing and the Illumina Human DNA Methylation EPIC platform. An extensive validation was performed using the bisulfite pyrosequencing technique.[Results]: Using a random forest approach, we developed a three-CpG marker-based diagnostic model that was subsequently validated using bisulfite pyrosequencing experiments. According to the validation cohort, this cost-effective method discriminates between benign and malignant nodules with a sensitivity and specificity of 97 and 88%, respectively (positive predictive value (PPV): 0.85, negative predictive value (NPV): 0.98).[Conclusions]: Our classification system based on a minimal set of epigenetic biomarkers can complement the potential of the diagnostic techniques currently available and would prioritize a considerable number of surgical interventions that are often performed due to uncertain cytology.[Significance statement]: In recent years, there has been a significant increase in the number of people diagnosed with thyroid nodules. The current challenge is their etiological diagnosis to discount malignancy without resorting to thyroidectomy. The method proposed here, based on DNA pyrosequencing assays, has high sensitivity (0.97) and specificity (0.88) for the identification of malignant thyroid nodules. This simple and cost-effective approach can complement expert pathologist evaluation to prioritize the classification of difficult-to-diagnose follicular-patterned thyroid lesions and track tumor evolution, including real-time monitoring of treatment efficacy, thereby stimulating adherence to health promotion programs.Peer reviewe

Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

Altres ajuts: Fondo Europeo de Desarrollo Regional (FEDER), "A way of making Europe".Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed total C4, C4A, C4B, and HERV-K CN were analyzed in 26,633 individuals and validated in an independent cohort. Our results showed that higher C4 CN confers protection to SSc, and deviations from CN parity of C4A and C4B augmented risk. The protection contributed per copy of C4A and C4B differed by sex. Stronger protection was afforded by C4A in men and by C4B in women. C4 CN correlated well with its gene expression and serum protein levels, and less C4 was detected for both in SSc patients. Conditioned analysis suggests that C4 genetics strongly contributes to the SSc association within the major histocompatibility complex locus and highlights classical alleles and amino acid variants of HLA-DRB1 and HLA-DPB1 as C4-independent signals

Gestión del conocimiento. Perspectiva multidisciplinaria. Volumen 10

El libro “Gestión del Conocimiento. Perspectiva Multidisciplinaria”, Volumen 10, de la Colección Unión Global, es resultado de investigaciones. Los capítulos del libro, son resultados de investigaciones desarrolladas por sus autores. El libro es una publicación internacional, seriada, continua, arbitrada de acceso abierto a todas las áreas del conocimiento, que cuenta con el esfuerzo de investigadores de varios países del mundo, orientada a contribuir con procesos de gestión del conocimiento científico, tecnológico y humanístico que consoliden la transformación del conocimiento en diferentes escenarios, tanto organizacionales como universitarios, para el desarrollo de habilidades cognitivas del quehacer diario. La gestión del conocimiento es un camino para consolidar una plataforma en las empresas públicas o privadas, entidades educativas, organizaciones no gubernamentales, ya sea generando políticas para todas las jerarquías o un modelo de gestión para la administración, donde es fundamental articular el conocimiento, los trabajadores, directivos, el espacio de trabajo, hacia la creación de ambientes propicios para el desarrollo integral de las instituciones

O31 Integrative analysis reveals a molecular stratification of systemic autoimmune diseases

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Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Diagnóstico y propuesta de mejoramiento del estado actual de implementación de las normas internacionales de información financiaras, en las pymes de la ciudad de Montería - Córdoba.

121 p.La investigación diagnóstico y propuesta de mejoramiento del estado actual de implementación de las normas internacionales de información financiaras, en las pymes de la ciudad de montería-córdoba. Su objetivo principal identificar las razones por las cuales las pymes de la ciudad de montería presentan retrasó en la implementación de las NIIF con el fin de diseñar un plan de acción que permita reducir la brecha de aplicación establecida por la ley. Se basó en autores como Vásquez (2013) Vargas (2017) Monsalve (2005) Fuentes (2017) detallando los indicadores de adopción de NIIF, reconociendo y medición de las partidas contables, estados financieros de apertura, recursos económicos, recursos tecnológicos y conocimiento de la norma. La metodología aplicada fue de carácter descriptivo, no experimental de campo, la muestra aplicada de 36 empresas, aplicando encuesta estructurada. Los resultados reflejan que el 44% de la empresa encuestadas han iniciado proceso de adopción, en 100% posee conocer el proceso de NIIF, asimismo en las etapas de implementación de auditoria de saldo en un 86%, el 81%, en diagnóstico, el 72% en capacitación del equipo en, elaboración de las políticas contables, registro y transacción en un 50%, verificación y seguimiento de las partidas 50%, preparación de los estados financieros 28% e informe en 5%. Todo lo anterior refleja el bajo nivel de implementación e NIIF solo 5% de la empresa cumplen todos los requerimientos bajo los estándares internacionales. Es necesario adoptar un plan de implementación que permita cumplir con los requerimientos establecidos en las normas contables de la ley 1314 del 2009 y el decreto 2420 del 2015. Palabras claves: NIIF, Adopción, implementación y contabilidad.The diagnostic investigation and proposal of improvement of the current state of implementation of the international norms of financial information, in the SMEs of the city of Montería – Córdoba. Its main objective Identify the reasons why SMEs in the city of Montería have delays in the implementation of IFRS in order to design an action plan to reduce the application gap established by law. It was based on authors such as Vásquez (2013) Vargas (2017) Monsalve (2005) Fuentes (2017) detailing the adoption indicators of IFRS, recognizing and measuring accounting items, opening financial statements, economic resources, technological resources and knowledge of the rule. The applied methodology was descriptive, not experimental field, the applied sample of 36 company, applying structured survey. The results show that 44% of the company surveyed have started the adoption process, 100% have knowledge of the IFRS process, as well as in the implementation stages of the balance audit in 86%, 81%, in diagnosis, the 72% in team training in, preparation of accounting policies, registration and transaction in 50%, verification and monitoring of the 50% items, preparation of the financial statements 28% and report in 5%. All the above reflects the low level of implementation and IFRS only 5% of the company meet all the requirements under international standards. It is necessary to adopt an implementation plan that allows compliance with the requirements established in the accounting rules of Law 1314 of 2009 and Decree 2420 of 2015. Keywords: IFRS, Adoption, implementation and accountin

Automation in financial audit processes: A framework for companies in Colombia

Este documento presenta los resultados de una exploración bibliográfica de los principales conceptos en el área de la automatización en relación a la auditoría financiera y genera un esquema de conocimiento de comprensión legible que facilita su potencial uso en las empresas de Colombia. Se desarrolla una investigación cualitativa descriptiva, sustentada en información bibliográfica, a través de una base teórica consistente. Los resultados permiten definir los conceptos fundamentales de la automatización, logrando recolectar información, para que sea rentable y de fácil aplicación. Incluyendo la relación de la automatización con los procesos de auditoría financiera, herramientas, tendencias y oportunidades para proponer un marco referencial para las empresas en Colombia. Por tanto, esta investigación ayuda al lector a comprender los conceptos básicos de la automatización, como instrumento que facilita los procesos de auditoría financiera en las empresas en Colombia, así como la toma de decisiones

A deletion at Adamts9-magi1 Locus is associated with psoriatic arthritis risk

Objective: Copy number variants (CNVs) have been associated with the risk to develop multiple autoimmune diseases. Our objective was to identify CNVs associated with the risk to develop psoriatic arthritis (PsA) using a genome-wide analysis approach. Methods: A total of 835 patients with PsA and 1498 healthy controls were genotyped for CNVs using the Illumina HumanHap610 BeadChip genotyping platform. Genomic CNVs were characterised using CNstream analysis software and analysed for association using the χ2 test. The most significant genomic CNV associations with PsA risk were independently tested in a validation sample of 1133 patients with PsA and 1831 healthy controls. In order to test for the specificity of the variants with PsA aetiology, we also analysed the association to a cohort of 822 patients with purely cutaneous psoriasis (PsC). Results: A total of 165 common CNVs were identified in the genome-wide analysis. We found a highly significant association of an intergenic deletion between ADAMTS9 and MAGI1 genes on chromosome 3p14.1 (p=0.00014). Using the independent patient and control cohort, we validated the association between ADAMTS9-MAGI1 deletion and PsA risk (p=0.032). Using next-generation sequencing, we characterised the 26 kb associated deletion. Finally, analysing the PsC cohort we found a lower frequency of the deletion compared with the PsA cohort (p=0.0088) and a similar frequency to that of healthy controls (p>0.3). Conclusions: The present genome-wide scan for CNVs associated with PsA risk has identified a new deletion associated with disease risk and which is also differential from PsC risk