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A F Mourão,
A Rodrigues,
F Vinagre, E Sousa,
J Polido-Pereira,
C Macieira,
F Ramos,
J Costa,
J Gomes Pedro,
J Pereira da Silva,
J E Fonseca,
M J Santos,
H Canhão
Journal of Translational Medicine 04/2012; 8:1-1. · 3.41 Impact Factor
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P. A. Laires,
H. Canhao,
D. Araujo,
J. E. Fonseca,
P. Machado,
A. F. Mourao,
S. Ramiro,
J. C. Romeu,
M. J. Santos,
I. Silva,
J. A. Silva, E. Sousa,
V. Tavares,
N. Gouveia,
J. C. Branco
Acta Reumatol Port. 01/2012; 37(1):18-24.
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A Mourão,
A Rodrigues,
F Vinagre, E Sousa,
J Polido-Pereira,
C Macieira,
F Ramos,
J. Costa,
Gomes Pedro J,
Pereira da Silva J,
J Fonseca,
M Santos,
H Canhão
Journal of Translational Medicine. 01/2010;
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A Rodrigues,
J Caetano-Lopes,
A Nery, E Sousa,
J Polido-Pereira,
M Vale,
P Amaral,
J C Romeu,
M Viana Queiroz,
J Monteiro,
M F Vaz,
J E Fonseca,
H Canhão
[show abstract]
[hide abstract]
ABSTRACT: Fracture risk assessment tools are useful to calculate the long term probability of osteoporotic fracture. However, how it reflects bone quality is unknown. The aim of this study was to correlate the WHO clinical fracture risk assessment tool, FRAX, with bone mechanical properties.
Six patients submitted to hip replacement surgery, either due to osteoporotic fractures or to osteoarthritis, were evaluated. Bone samples were collected and the mechanical properties assessed by compression tests. Patients' data regarding the presence of clinical risk factors for fracture were registered. Laboratorial assessment of bone metabolic parameters and a dual X-ray absorptiometry(DXA) were done.
Analysis of the load-displacement curves showed that patients with fragility fractures (n=4) had low values of elastic modulus, yield load and energy absorbed until yield point. Osteoarthritis patients tend to have a better biomechanical performance.Femoral neck DXA scan was also performed in 3 patients. Fragility fracture patients had a lower bone mineral density than the patients with osteoarthritis. FRAX algorithm was applied and a positive relation was found between FRAX results and biomechanical parameters. Blood bone metabolic markers were within the normal range for all the subjects.
The worse mechanical properties observed in the fragility fracture patients were related to high probability of fracture given by FRAX. These observations, in a very small sample, need further confirmation. However, they suggest that the fracture risk assessment tool, FRAX, may reflect the current mechanical bone behavior of the patient.
Acta reumatologica portuguesa 34(3):504-10. · 0.55 Impact Factor
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F M Pimentel-Santos,
D Ligeiro,
M Matos,
A F Mourão, E Sousa,
P Pinto,
A Ribeiro,
M Sousa,
A Barcelos,
F Godinho,
M Cruz,
J E Fonseca,
H Guedes-Pinto,
H Trindade,
D M Evans,
M A Brown,
J C Branco
[show abstract]
[hide abstract]
ABSTRACT: Association between ankylosing spondylitis (AS) and two genes, ERAP1 and IL23R, has recently been reported in North American and British populations. The population attributable risk fraction for ERAP1 in this study was 25%, and for IL23R, 9%. Confirmation of these findings to ERAP1 in other ethnic groups has not yet been demonstrated. We sought to test the association between single nucleotide polymorphisms (SNPs) in these genes and susceptibility to AS among a Portuguese population. We also investigated the role of these genes in clinical manifestations of AS, including age of symptom onset, the Bath Ankylosing Spondylitis Disease Activity, Metrology and Functional Indices, and the modified Stoke Ankylosing Spondylitis Spinal Score.
The study was conducted on 358 AS cases and 285 ethnically matched Portuguese healthy controls. AS was defined according to the modified New York Criteria. Genotyping of IL23R and ERAP1 allelic variants was carried out with TaqMan allelic discrimination assays. Association analysis was performed using the Cochrane-Armitage and linear regression tests of genotypes as implemented in PLINK for dichotomous and quantitative variables respectively. A meta-analysis for Portuguese and previously published Spanish IL23R data was performed using the StatsDirect Statistical tools, by fixed and random effects models.
A total of 14 nsSNPs markers (8 for IL23R, 5 for ERAP1, 1 for LN-PEP) were analysed. Three markers (2 for IL23R and 1 for ERAP1) showed significant single-locus disease associations, confirming that the association of these genes with AS in the Portuguese population. The strongest associated SNP in IL23R was rs1004819 (OR=1.4, p=0.0049), and in ERAP1 was rs30187 (OR=1.26, p=0.035). The population attributable risk fractions in the Portuguese population for these SNPs are 11% and 9.7% respectively. No association was seen with any SNP in LN-PEP, which flanks ERAP1 and was associated with AS in the British population. No association was seen with clinical manifestations of AS.
These results show that IL23R and ERAP1 genes are also associated with susceptibility to AS in the Portuguese population, and that they contribute a significant proportion of the population risk for this disease.
Clinical and experimental rheumatology 27(5):800-6. · 2.15 Impact Factor
