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- Linseed essential oil - Source of Lipids as Active Ingredients for Pharmaceuticals and NutraceuticalsPublication . Campos, J; Severino, P; Ferreira, C; Zielinska, A; Santini, A; Souto, S; Souto, EBLinseed - also known as flaxseed -, is known for its beneficial effects on animal health attributed to its composition, comprising omega-6 (linoleic) and omega-3 (α-linolenic) fatty acids, various dietary fibers and lignans, which have health benefits in reducing the risk of cancer and cardiovascular diseases, lowering the levels of LDL-cholesterol and relaxing the smooth muscle cells in arteries increasing the blood flow. Essential fatty acids from flax participate in several metabolic processes of the cell, not only as structuring components of the cell membrane, but also as storage lipids. Flax is consumed in the form of seeds (whole, milled or roasted), as an oil and as flour to provide basic nutrition. Flax can be considered a functional food. Several formulations containing flax are available on the market in the form of e.g. capsules and microencapsulated powders having potential as nutraceuticals for their beneficial effects on health. This paper revises the different lipid classes found in flaxseeds and their genomics. It also discusses the beneficial effects of flax and flaxseed oil and their biological advantages as ingredients in pharmaceuticals and in nutraceuticals products.
- High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadismPublication . Gonçalves, CI; Patriarca, FM; Aragüés, JM; Carvalho, D; Fonseca, F; Martins, S; Marques, O; Pereira, BD; Martinez-de-Oliveira, J; Lemos, MCCongenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormalities), but have also been found in patients with isolated CHH. The aim of this study was to identify CHD7 mutations in patients with CHH. Fifty Portuguese patients with CHH were screened for mutations in the CHD7 gene by DNA sequencing. Eight (16%) patients had CHD7 rare sequence variants that consisted of six missense (p.Gly388Glu, p.His903Pro, p.Thr1082Ile, p.Val1452Leu, p.Asp1854Gly, and p.Arg2065His) and two synonymous (p.Ser559Ser, and p.Ala2785Ala) mutations. Five of these mutations have never been reported before. Three CHD7 mutations occurred in patients that had mutations in additional CHH-genes. This study uncovered novel genetic variants that expand the known spectrum of mutations associated with CHH. The frequency of CHD7 mutations in this cohort was higher than that of other major CHH-genes and confirms the importance of including CHD7 in the genetic testing of CHH, even in the absence of additional CHARGE features.
- Hipotiroidismo Subclínico no IdosoPublication . Macedo Silva, S; Carvalho, A; Lopes-Pereira, M; Fernandes, VSubclinical hypothyroidism, defined as an increase of thyroid stimulating hormone levels with normal levels of thyroid hormones, could have a multiorgan impact. There seem to be differences in the elderly (over 65 years of age) which indicate that there should be a different approach in terms of diagnosis and the treatment.
- Dual ectopic thyroid glandPublication . Matta-Coelho, CS; Donato, S; Carvalho, M; Vilar, H
- Iron Deficiency and Obesity - Are we Diagnosing with Appropriate Indicators?Publication . Monteiro, AM; Fernandes, V; Matta-Coelho, C; Paredes, Sílvia; Pereira, ML; Marques, O; Alves, MINTRODUCTION: We aim to define the iron deficiency prevalence and eventual differences between obese patients with and without metabolic syndrome. MATERIAL AND METHODS: Analysis of patients evaluated at multidisciplinary consultation of obesity in our institution between 2013 and 2015 (n = 260). Iron deficiency: ferritin levels < 15 ng/mL. EXCLUSION CRITERIA: prior bariatric surgery; lack of ferritin or hemoglobin determinations. RESULTS: We analyzed data from 215 patients (84.2% female) with a mean age of 42.0 ± 10.3 years. The median body mass index was 42.5 (40.0 - 46.8) kg/m2 and 52.1% had metabolic syndrome. Iron deficiency was present in 7.0%, with no differences between genders or between patients with or without metabolic syndrome. Hypertension was associated with lower prevalence of iron deficiency. Type 2 diabetes and hypertension patients had higher levels of ferritin. The multivariate analysis showed that metabolic syndrome and increasing body mass index were predictive of higher risk of iron deficiency while hypertension predicted lower odds of iron deficiency. DISCUSSION: The prevalence of iron deficiency was similar in other published studies. Iron deficiency may be underdiagnosed if based only on ferritin concentrations. In our study, diabetes and hypertension appear to contribute to the increase in ferritin levels described in obesity. CONCLUSION: Ferritin may not be a reliable index for evaluating iron stores in obese patients, particularly when associated with comorbidities such as type 2 diabetes and hypertension. Further studies are needed to guide the diagnosis and iron supplementation in these patients.
- Universal vs. risk-factor-based screening for gestational diabetes-an analysis from a 5-Year Portuguese CohortPublication . Matta-Coelho, C; Monteiro, AM; Fernandes, V; Pereira, ML; Souto, SBPURPOSE: The criteria to screen for Gestational Diabetes Mellitus are not internationally consensual. In opposition to the universal screening performed in Portugal, certain countries advocate a risk-factor-based screening. We aim to compare obstetric and neonatal outcomes in pregnant women with and without risk factors treated for Gestational Diabetes Mellitus. METHODS: Retrospective and multicentric study of 12,006 pregnant women diagnosed with Gestational Diabetes Mellitus between 2011 and 2015, in Portugal. Gestational Diabetes Mellitus was diagnosed according to the International Association of the Diabetes and Pregnancy Study Groups criteria. RISK FACTORS: body mass index > 30kg/m2, history of Gestational Diabetes Mellitus, history of macrossomic newborn (birth weight > 4000 g) or first-degree relatives with Type 2 Diabetes Mellitus. EXCLUSION CRITERIA: lack of data concerning risk factors (n = 1563). RESULTS: At least one risk factor was found in 68.2% (n = 7123) pregnant women. Pregnant women with risk factors were more frequently medicated with insulin (p < 0.001), caesarean section was more commonly performed (p < 0.001), their newborns were more frequently large-for-gestational-age (p < 0.001) and neonatal morbidity was higher (p = 0.040) in comparison to pregnant women without risk factors. The Diabetes Mellitus reclassification test showed an increased frequency of intermediate hyperglycaemia and Diabetes Mellitus in women with risk factors (p < 0.001). CONCLUSION: Almost one-third of pregnant women would have remained undiagnosed if risk-based-factor screening were implemented in Portugal. Women without risk factors presented fewer obstetric and neonatal complications. However, more than one third required insulin therap
- Ossificação Auricular Bilateral Secundária a Síndrome de SheehanPublication . Pereira, T; Vilarinho, C; Sousa-Basto, A; Machado, A; Ferreira, C; Pereira, M
- Drugs Involved in Dyslipidemia and Obesity Treatment: Focus on Adipose TissuePublication . Dias, S; Paredes, S; Ribeiro, LMetabolic syndrome can be defined as a state of disturbed metabolic homeostasis characterized by visceral obesity, atherogenic dyslipidemia, arterial hypertension, and insulin resistance. The growing prevalence of metabolic syndrome will certainly contribute to the burden of cardiovascular disease. Obesity and dyslipidemia are main features of metabolic syndrome, and both can present with adipose tissue dysfunction, involved in the pathogenic mechanisms underlying this syndrome. We revised the effects, and underlying mechanisms, of the current approved drugs for dyslipidemia and obesity (fibrates, statins, niacin, resins, ezetimibe, and orlistat; sibutramine; and diethylpropion, phentermine/topiramate, bupropion and naltrexone, and liraglutide) on adipose tissue. Specifically, we explored how these drugs can modulate the complex pathways involved in metabolism, inflammation, atherogenesis, insulin sensitivity, and adipogenesis. The clinical outcomes of adipose tissue modulation by these drugs, as well as differences of major importance for clinical practice between drugs of the same class, were identified. Whether solutions to these issues will be found in further adjustments and combinations between drugs already in use or necessarily in new advances in pharmacology is not known. To better understand the effect of drugs used in dyslipidemia and obesity on adipose tissue not only is challenging for physicians but could also be the next step to tackle cardiovascular disease.
- Metabolic Activity in the Visceral and Subcutaneous Adipose Tissues by FDG-PET/CT in Obese PatientsPublication . Monteiro, AM; Ferreira, G; Duarte, HINTRODUCTION: The emerging role of the 18F-fluorodeoxyglucose-positron emission tomography/computed tomography in the study of the metabolic activity and inflammation in adipose tissue indicates that it might be a reliable tool to complement the risk stratification in obesity. The aims of this study were the evaluation of 18F-fluorodeoxyglucose uptake by visceral adipose tissues and subcutaneous adipose tissues and to determine eventual differences in patients with and without obesity. MATERIAL AND METHODS: Retrospective study of adult patients who underwent whole body 18F-fluorodeoxyglucose-positron emission tomography/ computed tomography scanning between July and August of 2016. STATISTICAL ANALYSIS: SPSS™ software v.20. Statisticalsignificance: p < 0.05. RESULTS: We assessed fluorodeoxyglucose-positron emission tomography/computed tomography scans from 156 patients (58.3% of males) with a mean age of 61.0 ± 14.1 years. Half of the patients had a body mass index ≥ 25.0 kg/m2 and 15.4% (n = 24) were obese. In both groups, the mean 18F-fluorodeoxyglucose uptake was higher in visceral adipose tissues. There were no differences in 18F-fluorodeoxyglucose uptake in visceral adipose tissues between the groups. Obese patients had lower density of adipose tissue,both in subcutaneous adipose tissues and in visceral adipose tissues. Abdominal circumference and density of visceral adipose tissueshad a positive predictive value in the mean 18F-fluorodeoxyglucose uptake in visceral adipose tissues. Discussion: Through a non-invasive test, this study demonstrated a significant higher metabolic activity in visceral adipose tissues in both obese and non-obese patients. According to our results, abdominal circumference was an important determinant in 18F-fluorodeoxyglucose uptake in visceral adipose tissues. We also demonstrated that obese patients had differences in adipose tissue quality. CONCLUSION: Our findings reinforce the importance of the adipose tissue quality and distribution for metabolic risk stratification.
- Primary adrenal insufficiency in adult population: a Portuguese multicentre study by the Adrenal Tumours Study GroupPublication . Ferreira, L; Silva, J; Garrido, S; Bello, C; Oliveira, D; Simões, H; Paiva, I; Guimarães, J; Ferreira, M; Pereira, MT; Bettencourt-Silva, R; Martins, AF; Silva, T; Fernandes, V; Ferreira, MINTRODUCTION: Primary adrenal insufficiency (PAI) is a rare but severe and potentially life-threatening condition. No previous studies have characterized Portuguese patients with PAI. AIMS: To characterize the clinical presentation, diagnostic workup, treatment and follow-up of Portuguese patients with confirmed PAI. METHODS: This multicentre retrospective study examined PAI patients in 12 Portuguese hospitals. RESULTS: We investigated 278 patients with PAI (55.8% were females), with a mean age of 33.6±19.3 years at diagnosis. The most frequent presenting clinical features were asthenia (60.1%), mucocutaneous hyperpigmentation (55.0%) and weight loss (43.2%); 29.1% of the patients presented with adrenal crisis. Diagnosis was established by high plasma ACTH and low serum cortisol in most patients (43.9%). The most common etiology of PAI was autoimmune adrenalitis (61.0%). There were 38 idiopathic cases. Autoimmune comorbidities were found in 70% of the patients, the most frequent being autoimmune thyroiditis (60.7%) and type 1 diabetes mellitus (17.3%). Seventy-nine percent were treated with hydrocortisone (mean dose 26.3±8.3 mg/day) mostly in three (57.5%) or two (37.4%) daily doses. The remaining patients were treated with prednisolone (10.1%), dexamethasone (6.2%) and methylprednisolone (0.7%); 66.2% were also on fludrocortisone (median dose of 100 g/day). Since diagnosis, 33.5% of patients were hospitalized for disease decompensation. In the last appointment, 17.2% of patients had complaints (7.6% asthenia and 6.5% depression) and 9.7% had electrolyte disturbances. CONCLUSION: This is the first multicentre Portuguese study regarding PAI. The results emphasize the need for standardization in diagnostic tests and aetiological investigation and provide a framework for improving treatment.