HLA association with the susceptibility to anti-synthetase syndrome

Objective To investigate the human leukocyte antigen (HLA) association with anti-synthetase syndrome (ASSD). Methods We conducted the largest immunogenetic HLA-DRB1 and HLA-B study to date in a homogeneous cohort of 168 Caucasian patients with ASSD and 486 ethnically matched healthy controls by sequencing-based-typing. Results A statistically significant increase of HLA-DRB1*03:01 and HLA-B*08:01 alleles in patients with ASSD compared to healthy controls was disclosed (26.2% versus 12.2%, P = 1.56E?09, odds ratio?OR [95% confidence interval?CI] = 2.54 [1.84?3.50] and 21.4% versus 5.5%, P = 18.95E?18, OR [95% CI] = 4.73 [3.18?7.05]; respectively). Additionally, HLA-DRB1*07:01 allele was significantly decreased in patients with ASSD compared to controls (9.2% versus 17.5%, P = 0.0003, OR [95% CI] = 0.48 [0.31?0.72]). Moreover, a statistically significant increase of HLA-DRB1*03:01 allele in anti-Jo-1 positive compared to anti-Jo-1 negative patients with ASSD was observed (31.8% versus 15.5%, P = 0.001, OR [95% CI] = 2.54 [1.39?4.81]). Similar findings were observed when HLA carrier frequencies were assessed. The HLA-DRB1*03:01 association with anti-Jo-1 was unrelated to smoking history. No HLA differences in patients with ASSD stratified according to the presence/absence of the most representative non-anti-Jo-1 anti-synthetase autoantibodies (anti-PL-12 and anti-PL-7), arthritis, myositis or interstitial lung disease were observed. Conclusions Our results support the association of the HLA complex with the susceptibility to ASS

HLA association with the susceptibility to anti-synthetase syndrome

Objective: To investigate the human leukocyte antigen (HLA) association with anti-synthetase syndrome (ASSD). Methods: We conducted the largest immunogenetic HLA-DRB1 and HLA-B study to date in a homogeneous cohort of 168 Caucasian patients with ASSD and 486 ethnically matched healthy controls by sequencing-based-typing. Results: A statistically significant increase of HLA-DRB1*03:01 and HLA-B*08:01 alleles in patients with ASSD compared to healthy controls was disclosed (26.2% versus 12.2%, P=1.56E-09, odds ratio-OR [95% confidence interval-CI]=2.54 [1.84-3.50] and 21.4% versus 5.5%, P=18.95E-18, OR [95% CI]=4.73 [3.18-7.05]; respectively). Additionally, HLA-DRB1*07:01 allele was significantly decreased in patients with ASSD compared to controls (9.2% versus 17.5%, P=0.0003, OR [95% CI]=0.48 [0.31-0.72]). Moreover, a statistically significant increase of HLA-DRB1*03:01 allele in anti-Jo-1 positive compared to anti-Jo-1 negative patients with ASSD was observed (31.8% versus 15.5%, P=0.001, OR [95% CI]=2.54 [1.39-4.81]). Similar findings were observed when HLA carrier frequencies were assessed. The HLA-DRB1*03:01 association with anti-Jo-1 was unrelated to smoking history. No HLA differences in patients with ASSD stratified according to the presence/absence of the most representative non-anti-Jo-1 anti-synthetase autoantibodies (anti-PL-12 and anti-PL-7), arthritis, myositis or interstitial lung disease were observed. Conclusions: Our results support the association of the HLA complex with the susceptibility to ASSD

Influence of MUC5B gene on antisynthetase syndrome

ABSTRACT: MUC5B rs35705950 (G/T) is strongly associated with idiopathic pulmonary fibrosis (IPF) and also contributes to the risk of interstitial lung disease (ILD) in rheumatoid arthritis (RA-ILD) and chronic hypersensitivity pneumonitis (CHP). Due to this, we evaluated the implication of MUC5B rs35705950 in antisynthetase syndrome (ASSD), a pathology characterised by a high ILD incidence. 160 patients with ASSD (142 with ILD associated with ASSD [ASSD-ILD+]), 232 with ILD unrelated to ASSD (comprising 161 IPF, 27 RA-ILD and 44 CHP) and 534 healthy controls were genotyped. MUC5B rs35705950 frequency did not significantly differ between ASSD-ILD+ patients and healthy controls nor when ASSD patients were stratified according to the presence/absence of anti Jo-1 antibodies or ILD. No significant differences in MUC5B rs35705950 were also observed in ASSD-ILD+ patients with a usual interstitial pneumonia (UIP) pattern when compared to those with a non-UIP pattern. However, a statistically significant decrease of MUC5B rs35705950 GT, TT and T frequencies in ASSD-ILD+ patients compared to patients with ILD unrelated to ASSD was observed. In summary, our study does not support a role of MUC5B rs35705950 in ASSD. It also indicates that there are genetic differences between ILD associated with and that unrelated to ASSD.We are indebted to the patients and healthy controls for their essential collaboration to this study. We also thank the National DNA Bank Repository (Salamanca) for supplying part of the control samples. This study was partially supported by grants from the Foundation for Research in Rheumatology (FOREUM). RL-M is a recipient of a Miguel Servet type I programme fellowship from the ‘Instituto de Salud Carlos III’ (ISCIII), co-funded by the European Social Fund (ESF, ‘Investing in your future’) (grant CP16/00033). SR-M is supported by funds of the RETICS Program (RD16/0012/0009), co-funded by the European Regional Development Fund (ERDF). VP-C is supported by a pre-doctoral grant from IDIVAL (PREVAL 18/01). VM is supported by funds of a Miguel Servet type I programme (grant CP16/00033) (ISCIII, co-funded by ESF). LL-G is supported by funds of PI18/00042 (ISCIII, co-funded by ERDF). OG is Staff Personnel of Xunta de Galicia (Servizo Galego de Saude, SERGAS) through a research-staff stabilization contract (ISCIII/SERGAS). OG,is member of RETICS Programme, RD16/0012/0014 (RIER: Red de Investigación en Inflamación y Enfermedades Reumáticas) via Instituto de Salud Carlos III (ISCIII) and FEDER. The work of OG (PI17/00409), was funded by Instituto de Salud Carlos III and FEDER. OG is a beneficiary of a project funded by Research Executive Agency of the European Union in the framework of MSCA-RISE Action of the H2020 Programme (Project number 734899). OG is beneficiary of a grant funded by Xunta de Galicia, Consellería de Educación, Universidade e Formación Profesional and Consellería de Economía, Emprego e Industria (GAIN), GPC IN607B2019/10

Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome

Mucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we assessed the role of MUC1 rs4072037 and serum KL-6 levels as a potential biomarker of ASSD susceptibility and for the differential diagnosis between patients with ILD associated with ASSD (ASSD-ILD +) and idiopathic pulmonary fibrosis (IPF). 168 ASSD patients (149 ASSD-ILD +), 174 IPF patients and 523 healthy controls were genotyped for MUC1 rs4072037 T > C. Serum KL-6 levels were determined in a subgroup of individuals. A significant increase of MUC1 rs4072037 CC genotype and C allele frequencies was observed in ASSD patients compared to healthy controls. Likewise, MUC1 rs4072037 TC and CC genotypes and C allele frequencies were significantly different between ASSD-ILD+ and IPF patients. Additionally, serum KL-6 levels were significantly higher in ASSD patients compared to healthy controls. Nevertheless, no differences in serum KL-6 levels were found between ASSD-ILD+ and IPF patients. Our results suggest that the presence of MUC1 rs4072037 C allele increases the risk of ASSD and it could be a useful genetic biomarker for the differential diagnosis between ASSD-ILD+ and IPF patients

The Research Journey as a Challenge Towards New Trends

The academic community of the department of Risaralda, in its permanent interest in evidencing the results of the research processes that are carried out from the Higher Education Institutions and as a product of the VI meeting of researchers of the department of Risaralda held in November 2021 presents its work: “The journey of research as a challenge towards new trends”, which reflects the result of the latest research and advances in different lines of knowledge in Agricultural Sciences, Health Sciences, Social Sciences and Technology and Information Sciences, which seek to solve and meet the demands of the different sectors. This work would not have been possible without the help of each of the teachers, researchers and authors who presented their articles that make up each of the chapters of the book, to them our gratitude for their commitment, dedication and commitment, since their sole purpose is to contribute from the academy and science to scientific and technological development in the search for the solution of problems and thus contribute to transform the reality of our society and communities. We also wish to extend our gratitude to the institutions of the Network that made this publication possible: UTP, UCP, UNAD, UNIREMINGTON; UNISARC, CIAF, Universidad Libre, Uniclaretiana, Fundación Universitaria Comfamiliar and UNIMINUTO, institutions that in one way or another allowed this work to become a reality, which we hope will be of interest to you.Preface............................................................................................................................7 Chapter 1. Technologies and Engineering Towards a humanization in Engineering using soft skills in training in Engineers.............................................................................................................11 Omar Iván Trejos Buriticá1, Luis Eduardo Muñoz Guerrero Innovative materials in construction: review from a bibliometric analysis....................................................................................................................27 Cristian Osorio Gómez, Daniel Aristizábal Torres, Alejandro Alzate Buitrago, Cristhian Camilo Amariles López Bibliometric review of disaster risk management: progress, trends, and challenges.........................................................................................................51 Alejandro Alzate Buitrago, Gloria Milena Molina Vinasco. Incidence of land coverage and geology, in the unstability of lands of the micro-basin of the Combia creek, Pereira, Risaralda....................................73 Alejandro Alzate Buitrago, Daniel Aristizábal Torres. Chapter 2. Arts, Humanities, and Social Sciences Training experience with teachers teaching mathematics using the inquiry methodology ...............................................................................................95 Vivian Libeth Uzuriaga López, Héctor Gerardo Sánchez Bedoya. Interpretation of the multiple representations of the fears associated to the boarding of limited visual patients in the elective I students’ written productions and low vision ...................................................................................113 Eliana Bermúdez Cardona, Ana María Agudelo Guevara, Caterine Villamarín Acosta. The relevance of local knowledge in social sciences............................................131 Alberto Antonio Berón Ospina, Isabel Cristina Castillo Quintero. Basic education students’ conceptions of conflict a view from the peace for the education....................................................................................................143 Astrid Milena Calderón Cárdenas,Carolina Aguirre Arias, Carolina Franco Ossa, Martha Cecilia Gutiérrez Giraldo, Orfa Buitrago. Comprehensive risk prevention in educational settings: an interdisciplinary and socio-educational approach ............................................................................163 Olga María Henao Trujillo, Claudia María López Ortiz. Chapter 3. Natural and Agricultural Sciences Physicochemical characterization of three substrates used in the deep bedding system in swine .......................................................................................175 Juan Manuel Sánchez Rubio, Andrés Felipe Arias Roldan, Jesús Arturo Rincón Sanz, Jaime Andrés Betancourt Vásquez. Periodic solutions in AFM models........................................................................187 Daniel Cortés Zapata, Alexander Gutiérrez Gutiérrez. Phenology in flower and fruit of Rubus glaucus benth. Cv. Thornless in Risaralda: elements for phytosanitary management .........................................199 Shirley Palacios Castro, Andrés Alfonso Patiño Martínez, James Montoya Lerma, Ricardo Flórez, Harry Josué Pérez. Socio-economic and technical characterization of the cultivation of avocado (Persea americana) in Risaralda..............................................................217 Andrés Alfonso Patiño Martínez, Kelly Saudith Castañez Poveda, Eliana Gómez Correa. Biosecurity management in backyard systems in Santa Rosa de Cabal, Risaralda................................................................................................................227 Julia Victoria Arredondo Botero, Jaiver Estiben Ocampo Jaramillo, Juan Sebastián Mera Vallejo, Álvaro de Jesús Aranzazu Hernández. CONTENTS Physical-chemical diagnosis of soils in hillside areas with predominance of Lulo CV. La Selva production system in the department of Risaralda.............241 Adriana Patricia Restrepo Gallón, María Paula Landinez Montes, Jimena Tobón López. Digestibility of three concentrates used in canine feeding....................................271 María Fernanda Mejía Silva, Valentina Noreña Sánchez, Gastón Adolfo Castaño Jiménez. Chapter 4. Economic, Administrative, and Accounting Sciences Financial inclusion in households from socioeconomic strata 1 and 2 in the city of Pereira ..................................................................................................285 Lindy Neth Perea Mosquera, Marlen Isabel Redondo Ramírez, Angélica Viviana Morales. Internal marketing strategies as a competitive advantage for the company Mobilautos SAS de Dosquebradas........................................................................303 Inés Montoya Sánchez, Sandra Patricia Viana Bolaños, Ana María Barrera Rodríguez. Uses of tourist marketing in the tourist sector of the municipality of Belén de Umbría, Risaralda.............................................................................................319 Ana María Barrera Rodríguez, Paola Andrea Echeverri Gutiérrez, María Camila Parra Buitrago, Paola Andrea Martín Muñoz, Angy Paola Ángel Vélez, Luisa Natalia Trejos Ospina. Territorial prospective of Risaralda department (Colombia), based on the SDGS...............................................................................................................333 Juan Guillermo Gil García, Samanta Londoño Velásquez. Chapter 5. Health and Sports Sciences Performance evaluation in times of pandemic. What do medical students think?.......................................................................................................353 Samuel Eduardo Trujillo Henao, Rodolfo A. Cabrales Vega, Germán Alberto Moreno Gómez. The relevance of the therapist’s self and self-reference in the training of psychologists.....................................................................................................371 Maria Paula Marmolejo Lozano, Mireya Ospina Botero. Habits related to oral health which influence lifestyle of elder people in a wellness center for the elderly in Pereira 2020. .............................................387 Isadora Blanco Pérez, Olga Patricia Ramírez Rodríguez, Ángela María Rincón Hurtado. Analysis of the suicide trend in the Coffee Region in Colombia during the years 2012-2018 ..............................................................................................405 Germán Alberto Moreno Gómez, Jennifer Nessim Salazar, Jairo Franco Londoño, Juan Carlos Medina Osorio. Hind limb long bone fractures in canines and felines...........................................419 María Camila Cruz Vélez, Valentina Herrera Morales, Alba Nydia Restrepo Jiménez, Lina Marcela Palomino, Gabriel Rodolfo Izquierdo Bravo. Prevalence of overweight and obesity in children in the rural and urban area of Risaralda....................................................................................................439 Angela María Álvarez López, Angela Liceth Pérez Rendón, Alejandro Gómez Rodas, Luis Enrique Isaza Velásquez. Chapter 6. Architecture, Design and Advertising The artisan crafts of Risaralda, characteristics, importance, and risks within the Colombian Coffee Cultural Landscape, CCCL....................................457 Yaffa Nahir Ivette Gómez Barrera, Javier Alfonso López Morales

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Historia natural y social del Rio Haina ; primera parte: características físico naturales de la Cuenca Haina

This research intends to know the socio-cultural and economic practices related to the management and use of the natural resources and the perception of this knowledge by some selected communities in the basin of Haina River. The first part includes physical and natural aspects of the basin as a framework in which operate human actions and as an introduction to current state of the area.Esta investigación se propone conocer prácticas socioculturales y económicas relacionadas con el manejo, uso de los recursos naturales y la percepción que de esto tienen comunidades seleccionadas en la cuenca del Haina. La primera parte de la misma incluye aspectos descriptivos físico-naturales de la cuenca, a modo de marco donde se desenvuelven las acciones humanas y como una introducción del estado actual del área

Cáparra : revista de innovación y experiencias educativas de los Centros de Profesores y Recursos de la Provincia de Cáceres

Se describe un proyecto, realizado siguiendo la metodología de aprendizaje basado en proyectos del CEIP Reyes Católicos de Guadalupe (Cáceres) que consistió en la realización en soporte digital y en papel, en inglés y en español, de folletos informativos para dar a conocer distintas ermitas, granjas y molinos de la Edad Media, en el entorno de GuadalupeES

Institutional Overlap and Responses to Political Crises in South America

The current regional security architecture in South America is characterized by a proliferation of institutions. Most regional organizations have by now adopted mechanisms to respond to domestic political crises and unconstitutional changes of government. This chapter studies whether overlapping mandates and activities in the management of political crises are harmful or beneficial for regional cooperation. The first part theorizes the effects of overlap on member states’ strategies, regional organizations’ interaction patterns, and the policy outcome. The second part explores overlapping democracy clauses in South America and analyzes six episodes where OAS, MERCOSUR, and/or UNASUR have simultaneously taken action in defense of democracy. The results show that, in the face of power shifts and competitive inter-organizational dynamics, overlapping actions by regional organizations might jeopardize the norms they set out to protect