Browsing by Author "Sousa, Ana"
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- Characterization of genetic polymorphisms CYP2R1 rs2060793 and CYP2R1 rs12794714: potential biomarkers in endometriosis predispositionPublication . Varandas, Tatiana; Dias, Francisca; Sousa, Ana; Amorim, Manuela; Medeiros, RuiEndometriosis is an estrogen-dependent gynecologic disorder defined by the presence of endometrium outside the uterine cavity. Vitamin D is a steroid hormone known for its importance in various biological processes. Vitamin D may play a direct role in the changes that the endometrium undergoes during the menstrual cycle, as endometrial tissue also expresses enzymes involved in metabolism. The study of genetic polymorphisms in the genes of vitamin D metabolism, namely CYP2R1 rs2060793 and CYP2R1 rs12794714, may contribute to a better understanding to the development of endometriosis and become potential biomarkers of the disease. To evaluate the applicability of CYP2R1 rs2060793 and CYP2R1 rs12794714 polymorphisms as potential biomarkers of genetic predisposition to the development of endometriosis. A case-control study was carried out that included the analysis of 482 women recruited between 2011 and 2018 in two public hospitals in Rio de Janeiro, Brazil, as part of the "Cooperation Protocol" between UEZO and CI-IPOP. Genetic polymorphisms were analysed by allelic discrimination with the StepOnePlusTMreal-time PCR system using TaqManTMprobes. There was an association between women carrying the A allele of CYP2R1 rs12794714 polymorphism and early development of endometriosis in about 10 years (p=0.026). We also found that women carrying the A allele of the CYP2R1 rs12794714 polymorphism along with a BMI<30, caucasian women, and without ovarian disease developed endometriosis 10 years (p=0.031), 14 years (p=0.013), and 15 years (p=0.004) earlier, respectively, than women with the GG genotype. Although endometriosis appears at older age, there are factors that may be associated with the development of this pathology at an earlier age. The influence of genetic background, present from birth, seems to be of fundamental importance in the development of the disease at an early age. The allele A of CYP2R1 rs12794714 polymorphism could become a potential biomarker for disease prognosis.
- Directrices prácticas para programas de apoyo entre personas com enfermedad mentalPublication . Campos, Filipa; Sousa, Ana; Rodrigues, Vânia; Marques, António; Queirós, Cristina; Dores, Artemisa RochaEste estudio tiene como objetivo determinar los principios orientadores para la implementación de programas de apoyo entre personas con problemas de salud mental en Portugal.
- Practical guidelines for peer support programmes for mental health problemsPublication . Campos, Filipa; Sousa, Ana; Rodrigues, Vânia; Marques, António; Queirós, Cristina; Dores, Artemisa RochaIntroduction: This study aims to determine the guiding principles for the implementation of peer support programmes in Portugal. Materials and methods: The study was divided in two phases. In the first phase a systematic review of 112 papers indexed in ISI and EBSCO databases (2001---2012) was conducted. In the second phase clinicians, researchers, and people with psychiatric disabilities were invited to take part in a two-round online survey based on the Delphi process to rate the importance of statements generated from the systematic review. Data were analysed with NVIVO 9 and SPSS 19. Results: During the Delphi round 72 experts were contacted, 44 participated in the second round. A consensus was achieved on major statements, with 84% of the sentences obtaining a consensus and eight key recommendations covering goals of peer support, selection of peer supporters, training and accreditation, role of mental health professionals, role of peer sup-porters, access to peer supporters, looking after peer supporters, and programme evaluation were based on these statements. Conclusions: Use of peer support for mental heath problems is still underexplored and sur-rounded by some controversy and ambiguity. However, its organisation and proper monitoring appears to enhance the quality of life and social inclusion of people with mental illness. This highlights the importance of conducting studies that increase our knowledge of these pro-grammes and determining guidelines for their implementation. This national consensus may be used as a starting point for the design and implementation of peer support programmes in mental health organisations.
- Screening of Candida albicans urinary tract infections by electronic nosePublication . Afonso, Helga; Mota, Inês; Sousa, Ana; Vieira, Mónica; Rufo, JoãoFungus caused urinary tract infections (UTIs) are often misdiagnosed. Since culturing procedures are time-consuming, practitioners prophylactically prescribe antibiotics, which are ineffective. Hence, there is a need for reliable methods to detect infectious concentrations of fungi in urine. Since Candida spp is the main responsible for mycological UTI, this study focuses on the detection of candiduria by analysing volatile compounds (VOCs) profiles released by the fungus´ metabolic activity in urine. The aim of this study was to develop and internally validate a detection algorithm for identifying the presence of pathological levels of Candida albicans in urine, using an electronic nose. To identify the VOCs profiles, the Cyranose 320 (Sensigent, USA) eNose, composed of 32 conducting polymer sensors, was used. Firstly, to optimize the eNose settings, urinary VOCs emissions were tested in terms of substrate heating temperature, as well as acquisition and purging times. Subsequently, 10 glass assay tubes containing urine from a healthy donor and 10 tubes containing urine inoculated with infectious levels (2.3 x 10^7 CFU/mL) of Candida albicans were analysed, in duplicate, with the eNose and resulting data were used to build the detection algorithm through recursive partitioning regression trees. The algorithm was then internally validated and efficacy measurements were retrieved. The Mann-Whitney test was then used to study the hypothesis of sensor 6 (S6) response between the groups. There was clear differentiation between healthy and infected urine samples (Figure 1). The algorithm reported optimal discrimination of samples using S6 with a cut-off sensor response of 239 x10^-6, with a sensitivity of 85.0%, a specificity of 90.0% and an accuracy of 87.5%. The S6 response was significantly different between groups (p<0.001). In conclusion, this study is promising and, in the future, with further validation using real UTI patients, it may contribute for better diagnosis.