10 results on '"Pimentel-Santos, Fernando Manuel"'
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2. Supplemental_Material – Supplemental material for Is a combined programme of manual therapy and exercise more effective than usual care in patients with non-specific chronic neck pain? A randomized controlled trial
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Domingues, Lucia, Pimentel-Santos, Fernando Manuel, Cruz, Eduardo Brazete, Sousa, Ana Cristina, Santos, Ana, Cordovil, Ana, Correia, Anabela, Torres, Laura Sa, Silva, Antonio, Branco, Pedro Soares, and Branco, Jaime Cunha
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stomatognathic diseases ,FOS: Clinical medicine ,110604 Sports Medicine ,FOS: Health sciences ,skin and connective tissue diseases ,110904 Neurology and Neuromuscular Diseases ,110314 Orthopaedics - Abstract
Supplemental material, Supplemental_Material for Is a combined programme of manual therapy and exercise more effective than usual care in patients with non-specific chronic neck pain? A randomized controlled trial by Lucia Domingues, Fernando Manuel Pimentel-Santos, Eduardo Brazete Cruz, Ana Cristina Sousa, Ana Santos, Ana Cordovil, Anabela Correia, Laura Sa Torres, Antonio Silva, Pedro Soares Branco and Jaime Cunha Branco in Clinical Rehabilitation
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- 2019
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- View/download PDF
3. Is a combined programme of manual therapy and exercise more effective than usual care in patients with non-specific chronic neck pain? A randomized controlled trial
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Domingues, Lucia, primary, Pimentel-Santos, Fernando Manuel, additional, Cruz, Eduardo Brazete, additional, Sousa, Ana Cristina, additional, Santos, Ana, additional, Cordovil, Ana, additional, Correia, Anabela, additional, Torres, Laura Sa, additional, Silva, Antonio, additional, Branco, Pedro Soares, additional, and Branco, Jaime Cunha, additional
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- 2019
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4. Non-classical human leucocyte antigens in ankylosing spondylitis: possible association with HLA-E and HLA-F
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Santos, Margarida, Couto, Ana, Foroni, Iris, Bettencourt, Bruno, Li, Zhixiu, Meneses, Raquel, Wheeler, Lawrie, Pereira, Joaquim, Pimentel-Santos, Fernando Manuel, Fonseca, Joao Eurico, Alves, Helena, Martinho, Antonio, Lima, Manuela, Brown, Matt, Bruges-Armas, Jacome, Santos, Margarida, Couto, Ana, Foroni, Iris, Bettencourt, Bruno, Li, Zhixiu, Meneses, Raquel, Wheeler, Lawrie, Pereira, Joaquim, Pimentel-Santos, Fernando Manuel, Fonseca, Joao Eurico, Alves, Helena, Martinho, Antonio, Lima, Manuela, Brown, Matt, and Bruges-Armas, Jacome
- Abstract
Objectives: Ankylosing spondylitis (AS) is the most prevalent form of spondyloarthritis, with a known genetic association with the HLA-B27 molecule. The aim of this study was to assess the contribution of the HLA-G, HLA-E and HLA-F to AS susceptibility/protection in Portuguese patients with HLA-B27 AS and HLA-B27 unaffected controls. Methods: High-resolution typing of HLA-G, HLA-E and HLA-F was performed in 228 patients with HLA-B27 AS and 244 HLA-B27 unaffected controls. Allelic, genotypic and haplotypic frequencies were compared between cohorts. To replicate the results, single nucleotide polymorphisms (SNPs) in HLA-E and HLA-F genes were typed in Australian cohorts. For further confirmation, a group of European-descent patients with AS and unaffected controls were genotyped for Major Histocompatibility Complex SNPs using the Illumina microarray. Results: In the Portuguese population, no significant differences were found in HLA-G. For HLA-E, a significant difference was detected for the genotype HLA-E*01:01:01/01:03:01 (p=0.009; pc=0.009; OR=0.51), with a protection effect. For HLA-F, significant differences were detected in the allele HLA-F*01:01:02 (p=0.0049; pc=0.0098; OR=0.60) and corresponding SNP rs2075682 (p=0.0004; pc=0.0008; OR=0.53), suggesting protection and in the genotype HLA-F*01:01:01/01:03:01 (p=0.011; pc=0.043; OR=2.00), suggesting a susceptibility effect. Three G-E-F haplotypes with significant differences were detected but occur in a very small number of individuals. The only significant differences detected in the replication studies were for HLA-E rs1059510 in the Australians and for HLA-F rs1736924 in the European-descent cohorts. Conclusion: Our results reveal suggestive AS protective and susceptibility effects from both HLA-E and HLA-F loci, however with population differences. To our knowledge, this is the first study showing association of HLA-F with AS.
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- 2018
5. Ankylosing spondylitis: genomic and functional characterization of candidate genes and their repercussion in clinical practice
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Pimentel-Santos, Fernando Manuel
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Inflammation ,Spondylitis, Ankylosing - diagnosis ,Case Studies ,Spondylitis, Ankylosing - therapy ,HLA Antigens - genetics ,Reumatologia - Abstract
RESUMO: Introdução: A espondilite anquilosante (EA) é uma doença inflamatória crónica caracterizada pela inflamação das articulações sacroilíacas e da coluna. A anquilose progressiva motiva uma deterioração gradual da função física e da qualidade de vida. O diagnóstico e o tratamento precoces podem contribuir para um melhor prognóstico. Neste contexto, a identificação de biomarcadores, assume-se como sendo muito útil para a prática clínica e representa hoje um grande desafio para a comunidade científica. Objetivos: Este estudo teve como objetivos: 1 - caracterizar a EA em Portugal; 2 - investigar possíveis associações entre genes, MHC e não-MHC, com a suscetibilidade e as características fenotípicas da EA; 3 - identificar genes candidatos associados a EA através da tecnologia de microarray. Material e Métodos: Foram recrutados doentes com EA, de acordo com os critérios modificados de Nova Iorque, nas consultas de Reumatologia dos diferentes hospitais participantes. Colecionaram-se dados demográficos, clínicos e radiológicos e colhidas amostras de sangue periférico. Selecionaram-se de forma aleatória, doentes HLA-B27 positivos, os quais foram tipados em termos de HLA classe I e II por PCR-rSSOP. Os haplótipos HLA estendidos foram estimados pelo algoritmo Expectation Maximization com recurso ao software Arlequin v3.11. As variantes alélicas dos genes IL23R, ERAP1 e ANKH foram estudadas através de ensaios de discriminação alélica TaqMan. A análise de associação foi realizada utilizando testes da Cochrane-Armitage e de regressão linear, tal como implementado pelo PLINK, para variáveis qualitativas e quantitativas, respetivamente. O estudo de expressão génica foi realizado por Illumina HT-12 Whole-Genome Expression BeadChips. Os genes candidatos foram validados usando qPCR-based TaqMan Low Density Arrays (TLDAs). Resultados: Foram incluídos 369 doentes (62,3% do sexo masculino, com idade média de 45,4 ± 13,2 anos, duração média da doença de 11,4 ± 10,5 anos). No momento da avaliação, 49,9% tinham doença axial, 2,4% periférica, 40,9% mista e 7,1% entesopática. A uveíte anterior aguda (33,6%) foi a manifestação extra-articular mais comum. Foram positivos para o HLA-B27, 80,3% dos doentes. Os haplótipo A*02/B*27/Cw*02/DRB1*01/DQB1*05 parece conferir suscetibilidade para a EA, e o A*02/B*27/Cw*01/DRB1*08/DQB1*04 parece conferir proteção em termos de atividade, repercussão funcional e radiológica da doença. Três variantes (2 para IL23R e 1 para ERAP1) mostraram significativa associação com a doença, confirmando a associação destes genes com a EA na população Portuguesa. O mesmo não se verificou com as variantes estudadas do ANKH. Não se verificou associação entre as variantes génicas não-MHC e as manifestações clínicas da EA. Foi identificado um perfil de expressão génica para a EA, tendo sido validados catorze genes - alguns têm um papel bem documentado em termos de inflamação, outros no metabolismo da cartilagem e do osso. Conclusões: Foi estabelecido um perfil demográfico e clínico dos doentes com EA em Portugal. A identificação de variantes génicas e de um perfil de expressão contribuem para uma melhor compreensão da sua fisiopatologia e podem ser úteis para estabelecer modelos com relevância em termos de diagnóstico, prognóstico e orientação terapêutica dos doentes. -----------ABSTRACT: Background: Ankylosing Spondylitis (AS) is a chronic inflammatory disorder characterized by inflammation in the spine and sacroiliac joints leading to progressive joint ankylosis and in progressive deterioration of physical function and quality of life. An early diagnosis and early therapy may contribute to a better prognosis. The identification of biomarkers would be helpful and represents a great challenge for the scientific community. Objectives: The present study had the following aims: 1- to characterize the pattern of AS in Portuguese patients; 2- to investigate MHC and non-MHC gene associations with susceptibility and phenotypic features of AS and; 3- to identify candidate genes associated with AS by means of whole-genome microarray. Material and Methods: AS was defined in accordance to the modified New York criteria and AS cases were recruited from hospital outcares patient clinics. Demographic and clinical data were recorded and blood samples collected. A random group of HLA-B27 positive patients and controls were selected and typed for HLA class I and II by PCR-rSSOP. The extended HLA haplotypes were estimated by Expectation Maximization Algorithm using Arlequin v3.11 software. Genotyping of IL23R, ERAP1 and ANKH allelic variants was carried out with TaqMan allelic discrimination assays. Association analysis was performed using the Cochrane-Armitage and linear regression tests as implemented in PLINK, for dichotomous and quantitative variables, respectively. Gene expression profile was carried out using Illumina HT-12 Whole-Genome Expression BeadChips and candidate genes were validated using qPCR-based TaqMan Low Density Arrays (TLDAs). Results: A total of 369 patients (62.3% male; mean age 45.4±13.2 years; mean disease duration 11.4±10.5 years), were included. Regarding clinical disease pattern, at the time of assessment, 49.9% had axial disease, 2.4% peripheral disease, 40.9% mixed disease and 7.1% isolated enthesopathic disease. Acute anterior uveitis (33.6%) was the most common extra-articular manifestation. 80.3% of AS patients were HLA-B27 positive. The haplotype A*02/B*27/Cw*02/DRB1*01/DQB1*05 seems to confer susceptibility to AS, whereas A*02/B*27/Cw*01/DRB1*08/DQB1*04 seems to provide protection in terms of disease activity, functional and radiological repercussion. Three markers (two for IL23R and one for ERAP1) showed significant single-locus disease associations. Association of these genes with AS in the Portuguese population was confirmed, whereas ANKH markers studied did not show an association with AS. No association was seen between non-MHC genes and clinical manifestations of AS. A gene expression signature for AS was established; among the fourteen validated genes, a number of them have a well-documented inflammatory role or in modulation of cartilage and bone metabolism. Conclusions: A demographic and clinical profile of patients with AS in Portugal was established. Identification of genetic variants of target genes as well as gene expression signatures could provide a better understanding of AS pathophysiology and could be useful to establish models with relevance in terms of susceptibility, prognosis, and potential therapeutic guidance.
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- 2012
6. ANKH and susceptibility to and severity of ankylosing spondylitis
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Pimentel-Santos, Fernando Manuel, Ligeiro, Dario, Matos, Mafalda, Mourao, Ana, de Sousa, Elsa Viera, Pinto, Patricia, Ribeiro, Ana, Santos, Helena, Barcelos, Anabela, Brown, Matthew, other, and, Pimentel-Santos, Fernando Manuel, Ligeiro, Dario, Matos, Mafalda, Mourao, Ana, de Sousa, Elsa Viera, Pinto, Patricia, Ribeiro, Ana, Santos, Helena, Barcelos, Anabela, Brown, Matthew, and other, and
- Abstract
Objective. Unconfirmed reports describe association of ankylosing spondylitis (AS) with several candidate genes including ANKH. Cellular export of inorganic pyrophosphate is regulated by the ANK protein, and mutant mice (ank/ank), which have a premature stop codon in the 3′ end of the ank gene, develop severe ankylosis. We tested the association between single-nucleotide polymorphisms (SNP) in these genes and susceptibility to AS in a population of patients with AS. We investigated the role of these genes in terms of functional (BASFI) and metrological (BASMI) measures, and the association with radiological severity (mSASSS). Methods. Our study was conducted on 355 patients with AS and 95 ethnically matched healthy controls. AS was defined according to the modified New York criteria. Four SNP in ANKH (rs27356, rs26307, rs25957, and rs28006) were genotyped. Association analysis was performed using Cochrane-Armitage and linear regression tests for dichotomous and quantitative variables. Analyses of Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), BASFI, and mSASSS were controlled for sex and disease duration. Results. None of the 4 markers showed significant single-locus disease associations (p > 0.05), suggesting that ANKH was not a major determinant of AS susceptibility in our population. No association was observed between these SNP and age at symptom onset, BASDAI, BASFI, BASMI, or mSASSS. Conclusion. These results confirm data in white Europeans that ANKH is probably not a major determinant of susceptibility to AS. ANKH polymorphisms do not markedly influence AS disease severity, as measured by BASMI and mSASSS. The Journal of Rheumatology
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- 2012
7. Drs. Pimentel-Santos and Branco reply
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PIMENTEL-SANTOS, FERNANDO MANUEL, primary and BRANCO, JAIME C., additional
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- 2012
- Full Text
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8. ANKH and Renal Stone Formation in Ankylosing Spondyl.
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PIMENTEL-SANTOS, FERNANDO MANUEL and BRANCO, JAIME C.
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- 2012
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9. Development of an environmental contextual factor item set relevant to global functioning and health in patients with axial spondyloarthritis.
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Kiltz U, Boonen A, van der Heijde D, Bautista-Molano W, Burgos Vargas R, Chiowchanwisawakit P, El-Zorkany B, Gaydukova I, Geher P, Gossec L, Gilio M, Grazio S, Gu J, Khan MA, Kim TJ, Maksymowych WP, Marzo-Ortega H, Navarro-Compán V, Ozgocmen S, Patrikos D, Pimentel-Santos FM, Reveille J, Schirmer M, Stebbings S, Van den Bosch F, Weber U, and Braun J
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- Humans, Quality of Life, Severity of Illness Index, Axial Spondyloarthritis, Spondylarthritis, Spondylitis, Ankylosing
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Objective: To describe the development of an Environmental contextual factors (EF) Item Set (EFIS) accompanying the disease specific Assessment of SpondyloArthritis international Society Health Index (ASAS HI)., Method: First, a candidate item pool was developed by linking items from existing questionnaires to 13 EF previously selected for the International Classification of Functioning, Disability and Health (ICF) /ASAS Core Set. Second, using data from two international surveys, which contained the EF item pool as well as the items from the ASAS HI, the number of EF items was reduced based on the correlation between the item and the ASAS HI sum score combined with expert opinion. Third, the final English EFIS was translated into 15 languages and cross-culturally validated., Results: The initial item pool contained 53 EF addressing four ICF EF chapters: products and technology (e1), support and relationship (e3), attitudes (e4) and health services (e5). Based on 1754 responses of axial spondyloarthritis patients in an international survey, 44 of 53 initial items were removed based on low correlations to the ASAS HI or redundancy combined with expert opinion. Nine items of the initial item pool (range correlation 0.21-0.49) form the final EFIS. The EFIS was translated into 15 languages and field tested in 24 countries., Conclusions: An EFIS is available complementing the ASAS HI and helps to interpret the ASAS HI results by gaining an understanding of the interaction between a health condition and contextual factors. The EFIS emphasizes the importance of support and relationships, as well as attitudes of the patient and health services in relation to self-reported health., (© The Author(s) 2021. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)
- Published
- 2022
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10. ANKH and susceptibility to and severity of ankylosing spondylitis.
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Pimentel-Santos FM, Ligeiro D, Matos M, Mourão AF, Vieira de Sousa E, Pinto P, Ribeiro A, Santos H, Barcelos A, Godinho F, Cruz M, Fonseca JE, Guedes-Pinto H, Trindade H, Brown MA, and Branco JC
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- Adult, Aged, Animals, Female, Genetic Markers, Humans, Male, Mice, Middle Aged, Spondylitis, Ankylosing pathology, White People genetics, Young Adult, Disease Susceptibility, Phosphate Transport Proteins genetics, Polymorphism, Single Nucleotide, Spondylitis, Ankylosing genetics, Spondylitis, Ankylosing physiopathology
- Abstract
Objective: Unconfirmed reports describe association of ankylosing spondylitis (AS) with several candidate genes including ANKH. Cellular export of inorganic pyrophosphate is regulated by the ANK protein, and mutant mice (ank/ank), which have a premature stop codon in the 3' end of the ank gene, develop severe ankylosis. We tested the association between single-nucleotide polymorphisms (SNP) in these genes and susceptibility to AS in a population of patients with AS. We investigated the role of these genes in terms of functional (BASFI) and metrological (BASMI) measures, and the association with radiological severity (mSASSS)., Methods: Our study was conducted on 355 patients with AS and 95 ethnically matched healthy controls. AS was defined according to the modified New York criteria. Four SNP in ANKH (rs27356, rs26307, rs25957, and rs28006) were genotyped. Association analysis was performed using Cochrane-Armitage and linear regression tests for dichotomous and quantitative variables. Analyses of Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), BASFI, and mSASSS were controlled for sex and disease duration., Results: None of the 4 markers showed significant single-locus disease associations (p > 0.05), suggesting that ANKH was not a major determinant of AS susceptibility in our population. No association was observed between these SNP and age at symptom onset, BASDAI, BASFI, BASMI, or mSASSS., Conclusion: These results confirm data in white Europeans that ANKH is probably not a major determinant of susceptibility to AS. ANKH polymorphisms do not markedly influence AS disease severity, as measured by BASMI and mSASSS.
- Published
- 2012
- Full Text
- View/download PDF
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