Polimorfismo do alelo HLA-B27 no desenvolvimento das espondilartropatias

A associação da molécula HLA-B27 com a espondilite anquilosante (AS) e outras espondilartropatias (SpA), permanece como uma das mais fortes verificada entre moléculas HLA e doenças humanas. Desde que foi descrita, em 1973, tem sido alvo de intensa investigação na tentativa de compreender o mecanismo patogénico que lhe está subjacente. Este artigo tem como objectivo fazer uma revisão dos conhecimentos actuais relativos à estrutura e polimorfismo da molécula HLA-B27, bem como descrever os modelos propostos para explicar o seu papel no desenvolvimento das espondilartropatias.The association of HLA-B27 with ankylosing spondylitis (AS), and other spondyloarthropathies (SpA), remains as one of the strongest between HLA molecules and human disease. Since it was reported, in 1973, it has been extensively studied in order to understand the underlying pathogenic mechanism. The objective of this article is to review the current knowledge on the structure and polymorphism of HLA-B27 molecule, as well as describe the main pathogenic hypotheses trying to explain its association with AS.info:eu-repo/semantics/publishedVersio

Analysis of Clinical Phenotypes through Machine Learning of First-Line H. pylori Treatment in Europe during the Period 2013–2022: Data from the European Registry on H. pylori Management (Hp-EuReg)

The segmentation of patients into homogeneous groups could help to improve eradication therapy effectiveness. Our aim was to determine the most important treatment strategies used in Europe, to evaluate first-line treatment effectiveness according to year and country. Data collection: All first-line empirical treatments registered at AEGREDCap in the European Registry on Helicobacter pylori management (Hp-EuReg) from June 2013 to November 2022. A Boruta method determined the “most important” variables related to treatment effectiveness. Data clustering was performed through multi-correspondence analysis of the resulting six most important variables for every year in the 2013–2022 period. Based on 35,852 patients, the average overall treatment effectiveness increased from 87% in 2013 to 93% in 2022. The lowest effectiveness (80%) was obtained in 2016 in cluster #3 encompassing Slovenia, Lithuania, Latvia, and Russia, treated with 7-day triple therapy with amoxicillin–clarithromycin (92% of cases). The highest effectiveness (95%) was achieved in 2022, mostly in Spain (81%), with the bismuth–quadruple therapy, including the single-capsule (64%) and the concomitant treatment with clarithromycin–amoxicillin–metronidazole/tinidazole (34%) with 10 (69%) and 14 (32%) days. Cluster analysis allowed for the identification of patients in homogeneous treatment groups assessing the effectiveness of different first-line treatments depending on therapy scheme, adherence, country, and prescription year.Fil: Nyssen, Olga P.. Universidad Autonoma de Madrid. Hospital Universitario de la Princesa; España. Instituto de Investigación Sanitaria Princesa; España. Universidad Autónoma de Madrid; España. Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas; EspañaFil: Pratesi, Pietro. Università degli Studi di Milano; ItaliaFil: Spínola, Miguel A.. Instituto de Investigación Sanitaria Princesa; EspañaFil: Jonaitis, Laimas. Lithuanian University of Health Sciences; LituaniaFil: Pérez Aísa, Ángeles. Hospital Universitario Costa del Sol; EspañaFil: Vaira, Dino. Sant’Orsola-Malpighi University Hospital; Italia. Universidad de Bologna; ItaliaFil: Saracino, Ilaria Maria. Sant’Orsola-Malpighi University Hospital; ItaliaFil: Pavoni, Matteo. Sant’Orsola-Malpighi University Hospital; ItaliaFil: Fiorini, Giulia. Sant’Orsola-Malpighi University Hospital; ItaliaFil: Tepes, Bojan. Diagnostični center Rogaška; EslovaquiaFil: Bordin, Dmitry S.. A. S. Loginov Moscow Clinical Scientific Center; Rusia. Tver State Medical University; Rusia. University of Medicine and Dentistry; RusiaFil: Voynovan, Irina. A. S. Loginov Moscow Clinical Scientific Center; RusiaFil: Lanas, Ángel. Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas; España. Hospital Clínico Universitario Lozano Blesa; España. Instituto de Investigación Sanitaria de Aragón; EspañaFil: Martínez Domínguez, Samuel J.. Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas; España. Hospital Clínico Universitario Lozano Blesa; España. Instituto de Investigación Sanitaria de Aragón; EspañaFil: Alfaro, Enrique. Hospital Clínico Universitario Lozano Blesa; EspañaFil: Bujanda, Luis. Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas; España. Universidad del País Vasco; España. Biodonostia Health Research Institute; EspañaFil: Pabón Carrasco, Manuel. Hospital Universitario de Valme; EspañaFil: Hernández, Luis. Hospital Santos Reyes; EspañaFil: Gasbarrini, Antonio. Fondazione Policlinico Universitario Agostino Gemelli; ItaliaFil: Kupcinskas, Juozas. Lithuanian University of Health Sciences; LituaniaFil: Lerang, Frode. Østfold Hospital Trust; NoruegaFil: Smith, Sinead M.. Trinity College Dublin; IrlandaFil: Gridnyev, Oleksiy. Government Institution L.T. Malaya Therapy National Institute of NAMS of Ukraine; UcraniaFil: Leja, Marcis. Digestive Diseases Centre; Letonia. University of Latvia; Letonia. Institute of Clinical and Preventive Medicine; LetoniaFil: Cano Català, Anna. Althaia Xarxa Assistencial Universitària de Manresa; España. Institut de Recerca i Innovació en Ciències de la Vida i de la Salut de la Catalunya Central; EspañaFil: Parra, Pablo. Universidad Autonoma de Madrid. Hospital Universitario de la Princesa; España. Instituto de Investigación Sanitaria Princesa; España. Universidad Autónoma de Madrid; España. Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas; EspañaFil: Mégraud, Francis. Inserm; Francia. Université de Bordeaux; FranciaFil: O’Morain, Colm. Trinity College Dublin; IrlandaFil: Ortega, Guillermo José. Instituto de Investigación Sanitaria Princesa; España. Universidad Nacional de Quilmes; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Gisbert, Javier P.. Universidad Autonoma de Madrid. Hospital Universitario de la Princesa; España. Instituto de Investigación Sanitaria Princesa; España. Universidad Autónoma de Madrid; España. Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas; Españ

Allele Polymorphism and Haplotype Diversity of HLA-A, -B and -DRB1 Loci in Sequence-Based Typing for Chinese Uyghur Ethnic Group

Previous studies indicate that the frequency distributions of HLA alleles and haplotypes vary from one ethnic group to another or between the members of the same ethnic group living in different geographic areas. It is necessary and meaningful to study the high-resolution allelic and haplotypic distributions of HLA loci in different groups.High-resolution HLA typing for the Uyghur ethnic minority group using polymerase chain reaction-sequence-based-typing method was first reported. HLA-A, -B and -DRB1 allelic distributions were determined in 104 unrelated healthy Uyghur individuals and haplotypic frequencies and linkage disequilibrium parameters for HLA loci were estimated using the maximum-likelihood method. A total of 35 HLA-A, 51 HLA-B and 33 HLA-DRB1 alleles were identified at the four-digit level in the population. High frequency alleles were HLA-A*1101 (13.46%), A*0201 (12.50%), A*0301 (10.10%); HLA-B*5101(8.17%), B*3501(6.73%), B*5001 (6.25%); HLA-DRB1*0701 (16.35%), DRB1*1501 (8.65%) and DRB1*0301 (7.69%). The two-locus haplotypes at the highest frequency were HLA-A*3001-B*1302 (2.88%), A*2402-B*5101 (2.86%); HLA-B*5001-DRB1*0701 (4.14%) and B*0702-DRB1*1501 (3.37%). The three-locus haplotype at the highest frequency was HLA-A*3001-B*1302-DRB1*0701(2.40%). Significantly high linkage disequilibrium was observed in six two-locus haplotypes, with their corresponding relative linkage disequilibrium parameters equal to 1. Neighbor-joining phylogenetic tree between the Uyghur group and other previously reported populations was constructed on the basis of standard genetic distances among the populations calculated using the four-digit sequence-level allelic frequencies at HLA-A, HLA-B and HLA-DRB1 loci. The phylogenetic analyses reveal that the Uyghur group belongs to the northwestern Chinese populations and is most closely related to the Xibe group, and then to Kirgiz, Hui, Mongolian and Northern Han.The present findings could be useful to elucidate the genetic background of the population and to provide valuable data for HLA matching in clinical bone marrow transplantation, HLA-linked disease-association studies, population genetics, human identification and paternity tests in forensic sciences

Wax worm saliva and the enzymes therein are the key to polyethylene degradation by Galleria mellonella

11 p.-6 fig.Plastic degradation by biological systems with re-utilization of the by-products can be the future solution to the global threat of plastic waste accumulation. We report that the saliva of Galleria mellonella larvae (wax worms) is capable of oxidizing and depolymerizing polyethylene (PE), one of the most produced and sturdy polyolefin-derived plastics. This effect is achieved after a few hours’ exposure at room temperature and physiological conditions (neutral pH). The wax worm saliva can indeed overcome the bottleneck step in PE biodegradation, that is the initial oxidation step. Within the saliva, we identified two enzymes that can reproduce the same effect. This is the first report of enzymes with this capability, opening up the way to new ground-breaking solutions for plastic waste management through bio-recycling/up-cycling.Roechling Stiftung to FB Consejo Superior de Investigaciones Científicas (CSIC) to FB NATO Science for Peace and Security Programme (Grant SPS G5536) to TT Junta de Castilla y León, Consejería de Educación y Cultura y Fondo Social Europeo (Grant BU263P18) to TT Ministerio de Ciencia e Innovación (Grant PID2019-111215RB-100) to TT The Generalitat de Catalunya (2017 SGR 1192) to MS Ministerio de Ciencia e Innovación (Grant BFU2017-89143-P) to EA-PN