Patricia Pinto

Publications (4)10.51 Total impact

• Article: Spectrum of ankylosing spondylitis in Portugal. Development of BASDAI, BASFI, BASMI and mSASSS reference centile charts.

  Fernando M Pimentel-Santos, Ana Filipa Mourão, Célia Ribeiro, José Costa, Helena Santos, Anabela Barcelos, Patricia Pinto, Fátima Godinho, Margarida Cruz, Elsa Vieira-Sousa, Rui André Santos, Sara Rabiais, Jorge Félix, João Eurico Fonseca, Henrique Guedes-Pinto, Matthew A Brown, Jaime C Branco
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  ABSTRACT: The availability of population-specific normative data regarding disease severity measures is essential for patient assessment. The goals of the current study were to characterize the pattern of ankylosing spondylitis (AS) in Portuguese patients and to develop reference centile charts for BASDAI, BASFI, BASMI and mSASSS, the most widely used assessment tools in AS. AS cases were recruited from hospital outpatient clinics, with AS defined according to the modified New York criteria. Demographic and clinical data were recorded. All radiographs were evaluated by two independent experienced readers. Centile charts for BASDAI, BASFI, BASMI and mSASSS were constructed for both genders, using generalized linear models and regression models with duration of disease as independent variable. A total of 369 patients (62.3% male, mean ± (SD) age 45.4 ± 13.2 years, mean ± (SD) disease duration 11.4 ± 10.5 years, 70.7% B27-positive) were included. Family history of AS in a first-degree relative was reported in 17.6% of the cases. Regarding clinical disease pattern, at the time of assessment 42.3% had axial disease, 2.4% peripheral disease, 40.9% mixed disease and 7.1% isolated enthesopatic disease. Anterior uveitis (33.6%) was the most common extra-articular manifestation. The centile charts suggest that females reported greater disease activity and more functional impairment than males but had lower BASMI and mSASSS scores. Data collected through this study provided a demographic and clinical profile of patients with AS in Portugal. The development of centile charts constitutes a useful tool to assess the change of disease pattern over time and in response to therapeutic interventions.
  Clinical Rheumatology 03/2012; 31(3):447-54. · 2.00 Impact Factor
• Article: ANKH and susceptibility to and severity of ankylosing spondylitis.

  Fernando Manuel Pimentel-Santos, Dario Ligeiro, Mafalda Matos, Ana Filipa Mourão, Elsa Vieira de Sousa, Patricia Pinto, Ana Ribeiro, Helena Santos, Anabela Barcelos, Fatima Godinho, Margarida Cruz, Joao Eurico Fonseca, Henrique Guedes-Pinto, Helder Trindade, Matthew A Brown, Jaime C Branco
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  ABSTRACT: 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). 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. 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. 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 11/2011; 39(1):131-4. · 3.69 Impact Factor
• Source

  Available from: Gethin Thomas

  Article: Whole blood transcriptional profiling in ankylosing spondylitis identifies novel candidate genes that might contribute to the inflammatory and tissue-destructive disease aspects.

  Fernando M Pimentel-Santos, Dário Ligeiro, Mafalda Matos, Ana F Mourão, José Costa, Helena Santos, Anabela Barcelos, Fátima Godinho, Patricia Pinto, Margarida Cruz, João E Fonseca, Henrique Guedes-Pinto, Jaime C Branco, Matthew A Brown, Gethin P Thomas
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  ABSTRACT: A number of genetic-association studies have identified genes contributing to ankylosing spondylitis (AS) susceptibility but such approaches provide little information as to the gene activity changes occurring during the disease process. Transcriptional profiling generates a 'snapshot' of the sampled cells' activity and thus can provide insights into the molecular processes driving the disease process. We undertook a whole-genome microarray approach to identify candidate genes associated with AS and validated these gene-expression changes in a larger sample cohort. A total of 18 active AS patients, classified according to the New York criteria, and 18 gender- and age-matched controls were profiled using Illumina HT-12 whole-genome expression BeadChips which carry cDNAs for 48,000 genes and transcripts. Class comparison analysis identified a number of differentially expressed candidate genes. These candidate genes were then validated in a larger cohort using qPCR-based TaqMan low density arrays (TLDAs). A total of 239 probes corresponding to 221 genes were identified as being significantly different between patients and controls with a P-value <0.0005 (80% confidence level of false discovery rate). Forty-seven genes were then selected for validation studies, using the TLDAs. Thirteen of these genes were validated in the second patient cohort with 12 downregulated 1.3- to 2-fold and only 1 upregulated (1.6-fold). Among a number of identified genes with well-documented inflammatory roles we also validated genes that might be of great interest to the understanding of AS progression such as SPOCK2 (osteonectin) and EP300, which modulate cartilage and bone metabolism. We have validated a gene expression signature for AS from whole blood and identified strong candidate genes that may play roles in both the inflammatory and joint destruction aspects of the disease.
  Arthritis research & therapy 04/2011; 13(2):R57. · 4.27 Impact Factor
• Article: [Protocol for evaluation and monitoring of Systemic Lupus Erythematosus (PAMLES)].

  Cândida Silva, Helena Canhão, Anabela Barcelos, Luis Miranda, Patrícia Pinto, Maria José Santos
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  ABSTRACT: Systemic Lupus Erythematosus (SLE) is a complex multisystemic disease. Appropriate approach to lupus patients depends on a careful clinical evaluation that identifies disease activity irreversible damage co-morbid conditions and the impact of SLE on patient s health status and quality of life. The Study Group for Systemic Rheumatic Diseases (GEDRESIS) of the Portuguese Society of Rheumatology summarizes the most relevant aspects of initial evaluation and monitoring of lupus patients in a clinical protocol (PAMLES). The aim of this protocol is to provide a useful tool for application in clinical practice and to contribute to a better care of lupus patients.
  Acta reumatologica portuguesa 33(2):210-8. · 0.55 Impact Factor