A5079765376- Spondyloarthritis Studies and Treatments
- T-cell and B-cell Immunology
- Sperm and Testicular Function
- Reproductive Biology and Fertility
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Dermatological and Skeletal Disorders
- Microbial infections and disease research
- Autoimmune and Inflammatory Disorders Research
- Systemic Lupus Erythematosus Research
- Immune Cell Function and Interaction
- NF-κB Signaling Pathways
- Psoriasis: Treatment and Pathogenesis
- Heterotopic Ossification and Related Conditions
- Mosquito-borne diseases and control
- Galectins and Cancer Biology
- Immunotherapy and Immune Responses
- Inflammasome and immune disorders
- Gout, Hyperuricemia, Uric Acid
- Molecular Biology Techniques and Applications
- vaccines and immunoinformatics approaches
- Influenza Virus Research Studies
- Adolescent and Pediatric Healthcare
- Metabolism and Genetic Disorders
- Seed Germination and Physiology
Hospital de Santo Espirito de Angra do Heroísmo
2005-2021
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2015-2016
Universidade do Porto
2009-2016
Instituto de Biologia Molecular e Celular
2014-2015
Baltimore Symphony Orchestra
2010
Hospital do Espírito Santo
2004-2006
The association of non-MHC genes with AS has been recently suggested. We aimed to investigate the ERAP1, IL23R and TNFSF15 regions susceptibility protection from in HLA-B27-positive individuals.A total 200 unrelated patients 559 healthy subjects, all HLA-B27 positive, were tested. Twenty single nucleotide polymorphisms (SNPs) investigated near (nine SNPs), ERAP1 (five SNPs) (six SNPs).ERAP1 rs30187 [odds ratio (OR) = 1.5, P 4.7 × 10(-3)] had strongest susceptibility. A protective effect was...
Three assays were performed. In assay 1, oocytes harvested during the winter months subjected to kinetic heat shock by stressing at 39.5°C (HS1) or 40.5°C (HS2) for either 6, 12, 18 24 h and then matured control temperature (38.5°C). The nuclear maturation rates (NMR) of all recorded after h. 2, collected year-round maturated, implanted via in vitro fertilization (IVF) developed 9 days. Gene expression analysis was performed on target genes (Cx43, CDH1, DNMT1, HSPA14) with reference two...
Twelve families that were multiply affected with diffuse idiopathic skeletal hyperostosis (DISH) and/or chondrocalcinosis, identified on the island of Terceira, The Azores, potentially supporting hypothesis 2 disorders share common etiopathogenic factors. present study was undertaken to investigate this hypothesis.One hundred three individuals from 12 unrelated assessed. Probands patients attending Rheumatic Diseases Clinic, Hospital de Santo Espírito, in Azores. Family members assessed by...
ABSTRACT Background Machado‐Joseph disease (or spinocerebellar ataxia type 3) is a late‐onset polyglutamine neurodegenerative disorder caused by mutation in the ATXN3 gene, which encodes for ubiquitously expressed protein ataxin‐3. Previous studies on cell and animal models have suggested that mutated ataxin‐3 involved transcriptional dysregulation. Starting with whole‐transcriptome profiling of peripheral blood samples from patients controls, we aimed to confirm abnormal expression profiles...
Abstract: Human leucocyte antigen‐A, ‐B, ‐Cw, ‐DRB1, ‐DQA1 and ‐DQB1 polymorphisms were examined in the Azorean population. The data obtained at high‐resolution level, using polymerase chain reaction (PCR) with sequence‐specific primer, PCR‐sequence‐specific oligonucleotides sequence‐based typing. most frequent allele each locus was: A*0201 (24.5%), B*510101 (9.8%), Cw*0401 (14.8%), DRB1*070101 (18.3%), DQA1*0201 (17.4%) DQB1*0301 (19.4%). predominant extended haplotype was...
Background . The aim of our work was to replicate, in a Southern European population, the association reported Northern populations between PTPRC locus and response anti-tumor necrosis factor (anti-TNF) treatment rheumatoid arthritis (RA). We also looked at associations five RA risk alleles response. Methods evaluated anti-TNF responses assessed by DAS28 change EULAR six months 383 Portuguese patients. Univariate multivariate linear logistic regression analyses were performed. In second step...
To investigate the potential association of major histocompatibility complex (MHC) markers other than HLA-B27 with ankylosing spondylitis (AS).A total 603 patients AS and 542 healthy control subjects, all whom were positive, selected for this study based on clinical criteria. First, high-density genotyping across MHC region (2,360 single-nucleotide polymorphisms [SNPs]) was performed in a cohort 191 241 subjects. After fine-mapping study, 5 SNPs from HLA-DPA1/DPB1 validated second 412 301...
Objectives Ankylosing spondylitis (AS) is the most prevalent form of spondyloarthritis, with a known genetic association HLA-B27 molecule. The aim this study was to assess contribution HLA-G, HLA-E and HLA-F AS susceptibility/protection in Portuguese patients unaffected controls. Methods High-resolution typing HLA-G , HLA - E F performed 228 244 Allelic, genotypic haplotypic frequencies were compared between cohorts. To replicate results, single nucleotide polymorphisms (SNPs) genes typed...
Machado-Joseph disease (MJD/SCA3) is a neurodegenerative polyglutamine disorder exhibiting wide spectrum of phenotypes. The abnormal size the (CAG)n at ATXN3 explains ~55% age onset variance, suggesting involvement other factors, namely genetic modifiers, whose identification remains limited. Our aim was to find novel analyse their epistatic effects and identify disease-modifying pathways contributing MJD variable expressivity. We performed whole-exome sequencing in discovery sample four...
Abstract Background HLA haplotype analysis has been used in population genetics and the investigation of disease-susceptibility locus, due to its high polymorphism. Several methods for inferring genotypic data have proposed, but it is unclear how accurate each or which method superior. The accuracy two leading computational inference – Expectation-Maximization algorithm based (implemented Arlequin V3.0) Bayesian PHASE V2.1.1) was compared using a set 122 haplotypes (A-B-Cw-DQB1-DRB1)...
Objectives. To investigate the efficacy of infliximab in treatment severe calcium pyrophosphate deposition diseases (CPPD). Methods. Two patients with CPPD and diffuse idiopathic skeletal hyperostosis- (DISH-) like phenotype are described. Both were resistant to therapy nonsteroidal anti-inflammatory drugs (NSAIDs). treated infliximab, a TNF-α receptor antagonist, for nine years. Results. Treatment resulted major clinical laboratory improvements without relevant side effects. Conclusions....
Introduction. This study aimed to assess the genetic determinants of poor outcome in Portuguese patients with juvenile idiopathic arthritis (JIA). Methods. Our was conducted Reuma.pt, Rheumatic Diseases Register, which includes JIA. We collected prospectively patient and disease characteristics a blood sample for DNA analysis. Poor prognosis defined as CHAQ/HAQ >0.75 at last visit and/or treatment biological therapy. A selected panel single nucleotide polymorphisms (SNPs) associated...
The effects of two different concentrations cryoprotectants on survival and developmental capacity four-cell mouse embryos were compared by Cryotop vitrification to demonstrate that lower provide the same results as higher previously reported with lesser negative molecular impact embryo cells. For this latest, via transcript analyses Heat shock protein 72 (Hsp72) 53 (p53). Four-cell obtained from superovulated female mice randomly assignedto one three following groups: (i) control...
<h3>Background</h3> Genetic variants have been identified associated with the susceptibility to Juvenile idiopathic arthritis (JIA). Little is known about genetic determinants of disease severity and long-term outcomes. <h3>Objectives</h3> This study aimed assess poor outcome in Portuguese patients JIA. <h3>Methods</h3> Our relied on Reuma.pt, Rheumatic Diseases Register, which includes JIA receiving biological therapies synthetic DMARDs. Subject characteristics diagnosis were collected...