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- Influence of the TAS2R38 gene single nucleotide polymorphisms in metabolism and anthropometry in thyroid dysfunctionPublication . Mendes Costa, Marta; Silva, Alda Pereira da; Santos, Ana Carolina; Ferreira, Joana; Mascarenhas, Mário Rui; Bicho, Manuel; Barbosa, AnaThe gene TAS2R38 single nucleotide polymorphisms (SNPs-P49A, A262V and V296I) can condition bitter tasting by PAV (proline–alanine–valine) and non-bitter-tasting by AVI (alanine–valine–isoleucine) homozygosity. We evaluated this polymorphisms association with thyroid function, metabolism and anthropometry parameters determined by: Endpoint analysis (SNPs); DXA (fat mass-%, total fat mass—kg, lean mass—kg); Standard methods (lipid metabolism parameters, HbA1c-%, glycemia—mg/dL, insulinemia—µIU/mL, HOMA-IR, uricemia—mg/dL, calcemia—mg/dL and BMI—kg/m2); ELISA (leptinemia—ng/mL); Spectrophotometry (Angiotensin Converting Enzyme activity—UI/L). Statistics: SPSS program; OR [IC95%]; p < 0.05. Sample: 114 hypothyroid, 49 hyperthyroid, and 179 controls. An association between A262V-valine–valine and hypothyroidism/hyperthyroidism was verified (OR = 2.841; IC95% [1.726–4.676]), p < 0.001/OR = 8.915; IC95% [4.286–18.543]), p < 0.001). Protector effect from thyroid dysfunction: A262V-alanine–valine (OR = 0.467; IC95% [0.289–0.757], p = 0.002/OR = 0.132; IC95% [0.056–0.309], p < 0.001) and PAV (OR = 0.456; IC95% [0.282–0.737], p = 0.001/OR = 0.101; IC95% [0.041–0.250], p < 0.001). Higher parameter values associated with genotypes were: fat-mass-% (V296I-valine–isoleucine), lean-mass (P49A-proline–proline; PVI), leptin (AVI), HbA1c (A262V-alanine–valine) and lower values in lean-Mass (AVI; PVV), leptin (A262V-alanine–alanine), HbA1c (PVV), uricemia (V296I-valine–isoleucine), glycemia (A262V-alanine–alanine; AAV) and plasma triglycerides (PVV). In conclusion, TAS2R38 influences thyroid function, body composition and metabolism. Bitter taste perception (PAV) and the genotype A262V-alanine–valine can protect from thyroid dysfunction. AVV, PVV and genotype A262V-valine–valine may confer higher predisposition for thyroid dysfunction, particularly PVV for hyperthyroidism.
- Genetic and environment interactions contribute to longevity : a case-control study with centenariansPublication . da Silva, Alda Pereira; Aguiar, L.; Matos, A.; Covas-Lima, J.; Gil, Â.; Gorjão Clara, João; Polónia, J.; Bicho, Manuel PiresObjective: Environmental or genetic factors, together with the interaction between them, may explain the increasing population of centenarians. This research aimed to understand these interactions that underlie centenarian’s phenotypes, namely gene-gene and gene-environment, particularly in relation to cardiovascular risk (CVR).
- Association of Aquaporin-3, Aquaporin-7, NOS3 and CYBA polymorphisms with hypertensive disorders in womenPublication . da Silva, Inês Vieira; Santos, Ana Carolina; Matos, Andreia; Silva, Alda Pereira da; Soveral, Graça; Rebelo, Irene; Bicho, ManuelPreeclampsia (PE), a pregnancy disorder influenced by oxidative stress and hypoxia, affects the health of the mother and baby and is associated with an increased risk of future hypertension (HT). Aquaporins are a family of water channels, comprising members that also transport glycerol (aquaglyceroporins) and hydrogen peroxide (peroxiporins), key molecules for metabolic homeostasis and redox signaling. Here, we investigated the association of Aquaporin-3 (AQP3; rs2231231), Aquaporin-7 (AQP7; rs2989924), NOS3 (4B/A intron) and CYBA (rs4673) genetic polymorphisms with the development of hypertensive disorders by qPCR/PCR in a cohort of 150 normotensive (NT) women (N = 90) or with previous PE (N = 60) during pregnancy. Prospectively, women were reclassified 2-16 years after pregnancy as NT (N = 98) or hypertensive (N = 48) and the genetic associations were reevaluated. In addition, genetic associations were reevaluated and compared between normotensive and hypertensive (HT) subjects. We found that AQP3 rs2231231, an aquaglyceroporin/peroxiporin, is associated with the development of HT, whereas AQP7, NOS3 and CYBA polymorphism did not correlate with PE or future HT. Because AQP3 was associated with hypertension only after pregnancy, its role might be related to later risk factors of hypertension such as metabolic syndrome or oxidative stress.
- Centenários em Portugal : contribuição para o estudo de fatores genéticos e ambientais associados à longevidadePublication . Oliveira, Alda; Bicho, Manuel Pires, 1950-; Clara, João Pedro Pereira Gorjão, 1945-Introduction: In Portugal, as in other regions of the world, the growing trend of the centenarian population and the existence of few studies justified the dedication to the theme. There are several explanatory theories of aging, some environmental, other genetic. With age there is a change in body composition and cognitive capacity. There is a consensus that high cardiovascular risk limits longevity. Objectives: This study aimed to characterize, in a sample of the centenarian population of Continental Portugal, both phenotypic (anthropometric, body composition, hemodynamic and biochemical), environmental aspects (place of residence in most of life, type of profession practiced and activities of caring and with some intellectual content, eating habits, alcoholic and smoking habits, use of medicines and medicinal plants, prayer practices, restful sleep), and genetic (polymorphisms associated with the aging process and cardiovascular risk), as well as identifying peculiarities of centenarian individuals; Comparing the parameters considered, between the sexes in the centenarians group and of these, with a control group composed of individuals of low and high cardiovascular risk of both sexes. Population and sample: After a long identification work, 253 centenarian individuals were selected, in the different regions of the country, with mean age ± SD of 100.26 ± 1.99 years, with the capacity to communicate, having been visited, interviewed and evaluated in their dwelling place. The control group consisted of 268 individuals, 67.51 ± 3.25 years old, 60.1% of high CV risk, selected in the Department of Heart and Vessels of Santa Maria Hospital and a Health Center of Lisbon. Methodology and procedures: The questionnaire was used as an instrument for collecting information and as a guide for the collection of objective evaluation data. The results of the laboratory tests provided were recorded. Samples of saliva were collected and transported in thermal bags for genetic analysis. They were used: Mini-Mental test; a semi-quantitative food frequency questionnaire aided by photographic models; Jaeger's card for visual evaluation; the whisper test for auditory evaluation; an anthropometric tape measure, a stadiometer, and a portable tetrapolar bioelectrical impedance apparatus for anthropometric evaluation and body composition; the timed up and go (TUG) test for evaluation of mobility and balance; an automatic blood pressure device. In the scope of the evaluation of health status (hypertension, diabetes, obesity, hypohydration, sarcopenia, osteoporosis, mobility, dyslipidemia), criteria were used, predefined by reference entities. Mean arterial pressure, pulse pressure, myocardial volume oxygen consumption, as well as body mass, fat mass, bone mass and muscle mass indices, LDL and non-HDL cholesterol were calculated and creatinine clearance were estimated. The fat mass was further calculated on the basis of the anthropometric equations of Deurenberg and Gallagher, and the resting metabolic rate by the Harris-Benedit equation and the results compared with the biompedance values using the Bland-Altman analysis. Cardiovascular risk was determined using the QRISK®2-2016 prediction algorithm. Eight genetic variants were studied in 6 polymorphic genes involved in oxidative stress and associated with cardiovascular risk and aging (Angiotensin Conversion Enzyme (ACE), rs4646994; Angiotensinogen (AGT), rs699 and rs4762; Angiotensin II Receptor 1 (AGTR1); G protein-coupled receptor kinase 4 (GRK4), rs2960306 and rs1024323; Solute Carrier Family 12 Member 3 (SLC12A3), rs13306673. Genotyping was performed using a DNA MicroChip in a high-throughput platform using iPlex MassARRAY® from Agena Bioscience technology, and the MALDI-TOF mass spectrometry reading. The frequency of genotypes and the balance of their proportions was estimated according to Hardy and Weinberg law. Statistics was performed using SPSS version 21, "Primer of Biostatistics" and MDR (Multifactor Dimensionality Reduction). The level of significance was established at alpha = 5 %. Results: The results indicate that centenarians in general have indicators that are more favorable to longevity than the control group. There was a higher prevalence of women among centenarians. The presence of indicators favoring longevity in the female sex is already observed at younger ages, especially in the control group. The results show that throughout life, there are a number of environmental factors that favor longevity: a quiet lifestyle, economic status with few deprivations, extended professional activity beyond retirement age, participation in voluntary caring activities, healthy and low-calorie eating habits, in which legumes and vegetables predominate, absence of smoking, spontaneous restorative sleep, regular prayer habits, and the rarity of life-threatening cardiovascular diseases are part of the profile of centenarians. Regarding the current state, this study found that centenarians are mostly (61.6 %), eutrophic (21.1 ± 3.68 kg / m2) and that hypertension is frequent among them (64.4 %), but of a slight and controlled degree, with better therapeutic response, not impeding longevity, in contrast to the results referring to the subgroup of high risk of the control group. The same was verified in relation to the blood glucose and cholesterol levels of serum LDL, therefore, a more favorable profile for longevity among centenarians. The anthropometric and bioimpedance indicators evaluated reinforce this profile, with BMI, body fat, visceral fat, waist circumference, waist / hip ratio and basal metabolism, which are low risk criteria, significantly different from those in the control group. The high frequency of sarcopenia and osteoporosis, particularly associated with low weight and leading to inadequate physical performance, suggests the need for adequate nutrition and the promotion of physical activity adjusted to the specific conditions of centenarians. Intense physical activity in the past seems to play a protective role for sarcopenia. As for osteoporosis, it is important to emphasize, besides the female sex, its presence among males, which can not be ignored. The existence of centenarian relatives may have some role in longevity, but not determinant. The DD ACE and GG NOS3 functional genotypic variants were more frequent in centenarians than in the control group suggesting that the polymorphisms of these enzymes are associated with cardiovascular risk and longevity. The angiotensinogen genes (rs4762) and the AT1 receptor of angiotensin II show a synergistic interaction in relation to the action of ACE and NOS3 in hypertension and its control, and this epistatic relationship can modulate the action of ACE and NOS3, thus contributing to a profile favorable to longevity. Functional genetic variants of the GRK4 enzyme may, in synergy with those of the angiotensinogen gene, also influence cardiovascular risk. This risk was the one that had the most weight in the reduction of the life expectancy, following the I / D polymorphisms of the ACE and G / T of the NOS3. However, since QRISK is a composite indicator based on predominantly non-genetic factors, it highlights the importance of environmental factors in their contribution to longevity. Conclusions: This work allowed accomplishing the defined objectives, identifying environmental and genetic factors associated with longevity and, in this way, to support preventative measures at an earlier age, enabling act on modifiable environmental factors aiming at the 100 years of age, leading to a long life dignified, with socio-economic, physical, mental and psychological well-being.
- Association of myeloperoxidase polymorphism (G463A) with cervix cancerPublication . Castelão, Cindy; Silva, Alda Pereira da; Matos, Andreia; Inácio, Ângela; Bicho, Manuel; Medeiros, Rui; Bicho, Maria ClaraCervical cancer is the fourth most common cancer affecting women worldwide, according to the latest IARC release with 528 000 new cases every year. Infection by high-risk human papillomavirus (HPV) is necessary but not sufficient for progression to cancer. Epithelial tissues, the target of HPV infection, are heavily exposed to reactive oxygen species (ROS). Hypochlorous acid (HOCl) is a very potent ROS, and it is produced by myeloperoxidase (MPO). MPO, a lysosomal enzyme expressed in polymorphonuclear neutrophils (PMN), has the potential to kill HPV transformed cells, as a component of an intercellular induced-apoptosis pathway. This enzyme catalyzes the production of HOCl in the presence of hydrogen peroxide (H2O2). The H2O2 produced by the Doderlein's bacillus will interact with MPO, contributing to the intercellular induced-apoptosis pathway. We studied a functional polymorphism in the promoter region of MPO (G463A) and how it may affect the risk of developing cervix cancer. A sample of 100 patients with invasive cervical cancer and 122 control women were genotyped for MPO polymorphism by PCR-RFLP method. The statistical method used was χ(2). We found that women with the GG genotype had lower risk for cervical cancer than the women who displayed the heterozygous genotype GA (OR = 0.546, 95 % CI = 0.315-0.939, p = 0.028, OR = 2.210, 95 % CI = 1.257-3.886, p = 0.008, respectively). The genotype that leads to a higher concentration of ROS (GG) presents itself as a protection factor in comparison to the homozygous genotype (AA). This can be explained by the interaction of HOCl and superoxide of transformed cells that will generate apoptosis-inducing hydroxyl radicals.
- Trainees as simulated patients in family medicine/general practice OSCE stations for undergraduate students: unintended (positive) consequencesPublication . Ascenção, Raquel; Afonso, David; Lopes, Sandra; Carmo, Pedro; Coelho, Inês; Coelho e Silva, Sara; Gaspar, Catarina; Gonçalves Gaspar, Ivone; Fortuna, Luís; Morais Lopes, Margarida; Nina, Ana Sofia; Pereira, Luísa; Pitta, Rita; Proença-Portugal, Mafalda; Silva, Alda Pereira daIn our medical school, an OSCE was recently introduced as a high-stakes exam in the 4th year. For the first time, Family Medicine/General Practice (FM/GP) faculty members were involved in such a complex undertaking, being responsible for two of the ten five-minute stations. Facing limited resources, we decided to invite FM/GP trainees as simulated patients (SP). They were provided with a ninety minute training session prior to the OSCE. In our debriefing session, examiners and SP felt confident in the aftermath. Examiners praised the trainees’ participation for the level of standardisation achieved. On the other hand, SP practitioners felt training was hugely facilitated because of the trainees’ thorough knowledge of ‘typical’ patients. Trainees confided they saw their participation as an opportunity to feel like a patient, enabling the development of empathy, and recognise the impact of different communication skills in the doctor-patient relationship. This was vastly unforeseen for the faculty members and perceived as a silver lining.
- Nutritional counselling in adults promoting adherence to the Mediterranean diet as adjuvant in the treatment of major depressive disorder (INDEPT): a randomized open controlled trial study protocolPublication . Sousa Santos, Nuno; Fialho, Mónica; Madeira, Teresa; Clara, Cátia; Veiga, Sofia; Martins, Raquel; Barros, Neuza; Santos, Gabriela; Santos, Osvaldo; Almeida, Carolina; Ganança, Licínia; Campos, Rui C.; Camolas, José; Silva, Alda Pereira da; Guarino, Maria Pedro Sucena; Heitor, Maria JoãoBackground: Major Depressive Disorder (MDD) is a leading cause of disability worldwide. Approximately one-third of patients with MDD do not respond to treatment, and often exhibit elevated inflammation biomarkers, which are associated with worse prognosis. Previous research has linked healthier dietary patterns, such as the Mediterranean Diet (MedDiet), with a lower risk of MDD and symptoms of depression, potentially due to their anti-inflammatory properties. The aim of this study is to evaluate the effectiveness of a nutritional counselling intervention promoting MedDiet to alleviate symptoms of depression in adults recently diagnosed with MDD and presenting with elevated inflammation biomarkers. Methods: This study is a randomized controlled trial (RCT) that will recruit adults from outpatient clinics, between the ages of 18 and 70 years who have been diagnosed with MDD and are currently receiving treatment with the first prescribed antidepressant, and who exhibit elevated inflammation biomarkers (interleukin-6 and/or C-reactive protein). The control group will receive treatment-as-usual (TAU) only. The primary outcome of the study will be the change in symptoms of depression, as measured by the Beck Depression Inventory 2 (BDI-II), after 12 weeks of intervention. Data analysis will follow an intention-to-treat approach. Secondary outcomes will include changes in inflammation biomarkers, quality of life, adherence to the MedDiet, and cost-effectiveness of nutritional counselling. All outcomes will be assessed at baseline, after the 12-week intervention, and at 6- and 12-months post-baseline. Discussion: This study will be the first RCT to evaluate the effect of a nutritional intervention with anti-inflammatory properties, as an adjuvant in the treatment of MDD, in individuals diagnosed with MDD and elevated inflammation biomarkers. The results of this study may contribute to the development of more effective and personalized interventions for MDD patients with elevated inflammation biomarkers.
- The teas of Portuguese centenariansPublication . Silva, Alda Pereira da; Costa, M. Céu; Rijo, Patrícia; Gorjão Clara, João Pedro Pereira; Bicho, ManuelIntroduction: Medicinal plants traditional consumption habits, can contribute to longevity. Methods: A sample of 253 centenarian individuals in Portugal, both sexes, median age 100 years, was studied, to verify past habits in relation to medicinal-interest plants use. It was compared with a control group median age 67 year, with a reduced theoretical probability of reaching 100 years. Results: Among the 8 most cited plants, in decreasing frequency order, in centenarian's group: Lemon-balm, barley, lemon-verbena, orange (leaf-flower), linden, whig-plant, pennyroyal and mount-carqueja (Pterospartum-tridentatum); in the control group: Lemon-balm, lemonverbena, chamomile, linden, prince-herb, green-tea, lemon-tea and minttea. Whereas 28% of the control subjects reported not using infusion plants, in the centennial group, only 9.1% reported not routinely use them (χ2¼30,42, po0.001). Among the 8 plants most marked by the centenarians that were not mentioned by the controls, they include barley, whig-plant, pennyroyal and mount-carqueja. Conclusion: the high antioxidant power associated with the use of plants by centenarian individuals, determined by anti-free radical's activity, lipoperoxidation inhibition and antitumor potential, may have contributed to their exceptional longevity.