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- Abordagem da hipertrigliceridemia severa na gravidez: a propósito de um caso clínicoPublication . Giestas, A.; Palma, I.; Teixeira, S.; Carvalho, R.; Pichel, F.; Ramos, M. H.RESUMO Durante a gravidez o metabolismo lipídico é afectado pelas hormonas placentárias de modo a assegurar um adequado aporte nutricional para o feto, constatando-se um aumento fisiológico dos níveis de triglicerídeos (TG), em particular no terceiro trimestre. Se o aumento do valor dos triglicerídeos for superior ao esperado na gravidez a paciente deve ser cuidadosamente monitorizada. A principal complicação da hipertrigliceridemia severa é a pancreatite aguda que está associada a uma mortalidade materno-fetal elevada (20%). Os autores apresentam o caso de uma mulher de 31 anos, com gestação de 34 semanas e hipertrigliceridemia severa (TG=1127 mg/dl). Foi internada e submetida a dieta pobre em gorduras, suplementos de ácidos gordos ómega 3 e a apertada vigilância clínica e analítica. O parto decorreu às 37 semanas de gestação sem complicações. O recém-nascido, do sexo feminino, pesava 3220 g e o score Apgar era de 9 ao primeiro minuto. Após o parto os níveis de TG maternos mostraram uma redução marcada. Este caso ilustra a importância do diagnóstico precoce e da instituição de medidas estratégicas relativamente simples na prevenção de pancreatite aguda em grávidas com hipertrigliceridemia severa.
- Apolipoprotein B and non-high-density lipoprotein cholesterol reveal a high atherogenicity in individuals with type 2 diabetes and controlled low-density lipoprotein-cholesterolPublication . Fonseca, Liliana; Paredes, Sílvia; Ramos, Helena; Oliveira, José Carlos; Palma, IsabelBackground: Lipid-lowering therapy is guided by Low-density-lipoprotein cholesterol (LDL-c) levels, although the cardiovascular disease (CVD) risk could be better reflected by other lipid parameters. This study aimed at comparing a comprehensive lipid profile between patients with type 2 diabetes mellitus (T2DM) with LDL-c concentration within and above target. Methods: A comprehensive lipid profile was characterized in 96 T2DM patients. The European Society of Cardiology/European Atherosclerosis Society (ESC/EAS) 2016 and 2019 Guidelines for the Management of Dyslipidemias were used to define LDL-c targets. Results: In this population, only 28.1 and 16.7% of patients had mean LDL-c levels within target, as defined by the 2016 and 2019 guidelines, respectively. Applying the 2016 guidelines criteria, in patients with LDL-c within target, 22, 25 and 44% presented non-high-density lipoprotein cholesterol (non-HDL-c), Apolipoprotein B (ApoB) and oxidized LDL-c levels above the recommended range, respectively, whereas according to the 2019 guidelines criteria, 50, 39 and 44% of the patients with LDL-c within target had elevated high-density lipoprotein cholesterol (HDL-c), ApoB and oxidized LDL-c levels, respectively. LDL-c was strongly correlated with non-HDL-c (r = 0.850), ApoB (r = 0.656) and oxidized LDL-c (r = 0.508). Similarly, there was a strong correlation between non-HDL-c with both ApoB (r = 0.808) and oxidized LDL-c (r = 0.588). Conclusions: These findings emphasize the limitations of only considering LDL-c concentration for cardiovascular (CV) risk assessment. Targeting only LDL-c could result in missed opportunities for CV risk reduction in T2DM patients. These data suggest that non-HDL-c, ApoB and oxidized LDL-c levels could be considered as an important part of these patients' evaluation allowing for a more accurate estimation of CV risk and hopefully better management of these high-risk patients.
- Application of the New “Points in Range” Metrics in the Assessment of In-Hospital Glycemic ControlPublication . Rosinha, Patrícia; Teixeira, Sofia; Amaral, Cláudia; Cardoso, Maria HelenaIntroduction Capillary blood glucose (CBG) monitoring remains the most used testing form in hospitals and allows for "points in range (PIR)" metric calculation. This study was conceived to evaluate the metabolic control in patients with diabetes mellitus (DM) at a hospital through PIR metrics. Methods This was an observational cross-sectional study conducted on October 9, 2020, that included non-critical adults admitted to Centro Hospitalar Universitário do Porto (except pregnant/postpartum women) with DM under CBG monitoring and a minimum of 24 hours of hospitalization. Glycemic control was evaluated by previous day CBG monitoring. Results The study sample consisted of 110 patients with DM (93.6% type 2) with a median number of CBG tests of 4.00 (1.00) and a median CBG of 166.20 (69.41) mg/dL, SD 41.93 ± 27.20 mg/dL, and variation coefficient of 22.56 ± 12.51%. Points below range were 0.5%, with 0% below 54 mg/dL. The points in ranges 70-140 mg/dL and 140-180 mg/dL were 32.8% and 22.0%, respectively, and the total number of patients with all points in range 70-180 mg/dL was 19 (17.3%), with only 3 (2.7%) having all points in range 140-180 mg/dL and 10 (9.1%) in range 70-140 mg/dL. Regarding points above range (PAR), 29.9% and 14.8% points were at levels 1 and 2 hyperglycemia, respectively, and 15 (13.6%) patients had all points above 180 mg/dL. Correlations were identified between PAR and the total number of CBG assessments (ρ = 0.689, p < 0.001). Conclusion We conclude that in-hospital glycemic control remains suboptimal: only few have adequate control according to the PIR metrics despite low glycemic variability. PIR metrics are a new, valuable, simple and valid way to take better advantage of CBG monitoring at no added cost.
- Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious VariantPublication . Duarte, Diana Borges; Ferreira, Lia; Santos, Ana P.; Costa, Cláudia; Lima, Jorge; Santos, Catarina; Afonso, Mariana; Teixeira, Manuel R.; Carvalho, Rui; Cardoso, HelenaIntroduction: Pheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia. Recent studies have indicated that up to 40% of pheochromocytomas could be attributable to an inherited germline variant in an increasing list of susceptibility genes. Germline variants of the MYC-associated factor (MAX) gene have been associated with familial pheochromocytomas and paragangliomas with an autosomal dominant pattern of inheritance, a median age at onset of 33 years and an overall frequency estimated at 1.9%. We describe a deleterious MAX variant associated with hereditary pheochromocytoma in a family with four affected individuals. Case presentation: The first patient presented with bilateral pheochromocytoma in 1995; genetic testing was proposed to his oldest son, when he was diagnosed with a bilateral pheochromocytoma with a synchronous neuroblastoma. Upon the identification of the MAX variant c.97C>T, p.(Arg33Ter), in the latter individual, his two siblings and their father were tested and the same variant was identified in all of them. Both siblings were subsequently diagnosed with pheochromocytoma (one of them bilateral) and choose to remain on active surveillance before they were submitted to adrenalectomy. All the tumours secreted predominantly norepinephrine, accordingly to the typical biochemical phenotype ascribed to variants in the MAX gene. Conclusion: This case series is, to our knowledge, the one with the largest number of individuals with hereditary pheochromocytoma with a deleterious MAX variant in the same family. It is also the first case with a synchronous pheochromocytoma and neuroblastoma in carriers of a MAX deleterious variant. This report draws attention to some ill-defined features of pheochromocytoma and other malignancies associated with a MAX variant and highlights the importance of understanding the genotype-phenotype correlation in hereditary pheochromocytoma and the impact of oriented genetic testing to detect, survey and treat patients and kindreds at risk.
- Disseminated Well-Differentiated Gastro-Entero-Pancreatic Tumors Are Associated with Metabolic SyndromePublication . Santos, Ana P; Castro, C.; Antunes, Luís; Henrique, Rui; Cardoso, Helena; MP, MonteiroThe association of well-differentiated gastro-entero-pancreatic neuroendocrine tumors (WD GEP-NETs) with metabolic syndrome (MetS), abdominal obesity, and fasting glucose abnormalities was recently described. The aim of this study was to evaluate whether the presence of MetS or any MetS individual component was also influenced by GEP-NET characteristics at diagnosis. A cohort of patients with WD GEP-NETs (n = 134), classified according to primary tumor location (gastrointestinal or pancreatic), pathological grading (G1 (Ki67 ≤ 2%) and G2 (>3 ≤ 20%) (WHO 2010), disease extension (localized, loco-regional, and metastatic), and presence of hormonal secretion syndrome (functioning/non-functioning), was evaluated for the presence of MetS criteria. After adjustment for age and gender, the odds of having MetS was significantly higher for patients with WD GEP-NET grade G1 (OR 4.35 95%CI 1.30-14.53) and disseminated disease (OR 4.52 95%CI 1.44-14.15). GEP-NET primary tumor location or secretory syndrome did not influence the risk for MetS. None of the tumor characteristics evaluated were associated with body mass index, fasting plasma glucose category, or any of the individual MetS components. Patients with GEP-NET and MetS depicted a higher risk of presenting a lower tumor grade and disseminated disease. The positive association between MetS and GEP-NET characteristics further highlights the potential link between the two conditions.
- Endocrinology in Portugal - Census 2016. Board of the Portuguese College of Endocrinology and Nutrition of the Portuguese Medical AssociationPublication . Guimarães, J.; Afonso, A.; Carvalho, D.; Marques, A.; Martins, T.; Mascarenhas, M.; Pereira, C.; Rodrigues, D.; Saraiva, C.; Cardoso, H.INTRODUCTION: On September 2016, the Board of the College of Endocrinology and Nutrition of the Portuguese Medical Association carried out a national survey, about all Endocrinology, Diabetes and Metabolism Departments of the public hospitals included in the Portuguese National Health Service and a simplified version of this survey was sent to all endocrinologists working in Portugal and registered with the Portuguese Medical Association. MATERIAL AND METHODS: Data related to organizational and human resources were collected, reporting the situation by the end of year 2015. The census registered 107 individuals and 27 Departments. RESULTS: The ratio of endocrinologists-population was 1.4, much lower than in the other European countries (varies between 2 to 4), resulting in alarming shortages of services in some areas of Portugal and in worse quality indicators. DISCUSSION: These data suggest that actions should be taken to increase the number of endocrinologists and departments in the country. CONCLUSION: In recent years, the number of residents has significantly increased, which will make it possible to correct this situation
- Estrogen Metabolism-Associated CYP2D6 and IL6-174G/C Polymorphisms in Schistosoma haematobium InfectionPublication . Cardoso, R.; Lacerda, P.; Costa, P.; Machado, A.; Carvalho, A.; Bordalo, A.; Fernandes, R.; Soares, R.; Richter, J.; Alves, H.; Botelho, M.Schistosoma haematobium is a human blood fluke causing a chronic infection called urogenital schistosomiasis. Squamous cell carcinoma of the urinary bladder (SCC) constitutes chronic sequelae of this infection, and S. haematobium infection is accounted as a risk factor for this type of cancer. This infection is considered a neglected tropical disease and is endemic in numerous countries in Africa and the Middle East. Schistosome eggs produce catechol-estrogens. These estrogenic molecules are metabolized to active quinones that induce modifications in DNA. The cytochrome P450 (CYP) enzymes are a superfamily of mono-oxygenases involved in estrogen biosynthesis and metabolism, the generation of DNA damaging procarcinogens, and the response to anti-estrogen therapies. IL6 Interleukin-6 (IL-6) is a pleiotropic cytokine expressed in various tissues. This cytokine is largely expressed in the female urogenital tract as well as reproductive organs. Very high or very low levels of IL-6 are associated with estrogen metabolism imbalance. In the present study, we investigated the polymorphic variants in the CYP2D6 gene and the C-174G promoter polymorphism of the IL-6 gene on S. haematobium-infected children patients from Guine Bissau. CYP2D6 inactivated alleles (28.5%) and IL6G-174C (13.3%) variants were frequent in S. haematobium-infected patients when compared to previously studied healthy populations (4.5% and 0.05%, respectively). Here we discuss our recent findings on these polymorphisms and whether they can be predictive markers of schistosome infection and/or represent potential biomarkers for urogenital schistosomiasis associated bladder cancer and infertility.
- Evidence Associated with the Use of Oxazolidinones in the Treatment of Skin and Skin Structure Infections: A Retrospective StudyPublication . Santos, Tiago; Carvalho, Rui; Abreu, Miguel Araújo; Reis, Ernestina; Couto de Carvalho, André
- Gastroenteropancreatic Neuroendocrine Neoplasia Characterization in Portugal: Results from the NETs Study Group of the Portuguese Society of Endocrinology, Diabetes and MetabolismPublication . Santos, A.; Vinagre, J.; Soares, P.; Claro, I.; Sanches, A.; Gomes, L.; Fernandes, I.; Catarino, A.; Preto, J.; Pereira, B.; Marques, A.; Rodrigues, F.; Amaral, C.; Rocha, G.; Mellidez, J.; Simões, H.; Lopes, J.; Bugalho, M.Background: The incidence of gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) has been increasing in the last five decades, but there is no large-scale data regarding these tumours in Portugal. We conducted a cross-sectional, multicentric study in main Portuguese centers to evaluate the clinical, pathological, and therapeutic profile of GEP-NENs. Methods: From November, 2012, to July, 2014, data from 293 patients diagnosed with GEP-NENs from 15 centers in Portugal was collected and registered in an online electronic platform. Results: Median age at diagnosis was 56.5 (range: 15-87) years with a preponderance of females (54.6%). The most frequent primary sites were the pancreas (31.1%), jejunum-ileum (24.2%), stomach (13.7%), and rectum (8.5%). Data regarding hormonal status was not available in most patients (82.3%). Stratified by the tumour grade (WHO 2010 classification), we observed 64.0% of NET G1, 24.7% of NET G2, and 11.3% of NEC. Poorly differentiated tumours occurred mainly in older patients (p = 0.017), were larger (p < 0.001), and presented more vascular (p = 0.004) and lymphatic (p = 0.001) invasion. At the time of diagnosis, 44.4% of GEP-NENs presented metastatic disease. Surgery (79.6%) and somatostatin analogues (30.7%) were the most frequently used therapies of GEP-NENs with reported grading. Conclusion: In general, Portuguese patients with GEP-NENs presented similar characteristics to other populations described in the literature. This cross-sectional study represents the first step to establish a national database of GEP-NENs that may aid in understanding the clinical and epidemiological features of these tumours in Portugal. Methods: From November, 2012, to July, 2014, data from 293 patients diagnosed with GEP-NENs from 15 centers in Portugal was collected and registered in an online electronic platform. Results: Median age at diagnosis was 56.5 (range: 15-87) years with a preponderance of females (54.6%). The most frequent primary sites were the pancreas (31.1%), jejunum-ileum (24.2%), stomach (13.7%), and rectum (8.5%). Data regarding hormonal status was not available in most patients (82.3%). Stratified by the tumour grade (WHO 2010 classification), we observed 64.0% of NET G1, 24.7% of NET G2, and 11.3% of NEC. Poorly differentiated tumours occurred mainly in older patients (p = 0.017), were larger (p < 0.001), and presented more vascular (p = 0.004) and lymphatic (p = 0.001) invasion. At the time of diagnosis, 44.4% of GEP-NENs presented metastatic disease. Surgery (79.6%) and somatostatin analogues (30.7%) were the most frequently used therapies of GEP-NENs with reported grading. Conclusion: In general, Portuguese patients with GEP-NENs presented similar characteristics to other populations described in the literature. This cross-sectional study represents the first step to establish a national database of GEP-NENs that may aid in understanding the clinical and epidemiological features of these tumours in Portugal.
- Gender-Affirming Hormone Therapy: Physical and Sociopsychological Effects, Impact and SatisfactionPublication . Santos, Rafael Baptista; Lemos, Carolina; Saraiva, MiguelBackground Gender dysphoria treatment includes gender-affirming hormone therapy (GAHT). Studies are still lacking on how to characterize its effects and impact on transgender people's lives more effectively. Aim To study the physical and psychological effects of GAHT on transgender individuals, assess its impact on their lives, and rate their overall satisfaction. Methods Participants (n = 114; ages 18-62 years; median age 24.0 (21.0 - 33.0) years) included transgender adults residing in Portugal who were undergoing or had undergone hormonal therapy for at least one uninterrupted year. Participants completed an original questionnaire. For most items, an ordinal Likert-style scale ranging from 0 (worst result) to 6 (best result) was used. Descriptive statistics and non-parametric tests, including Pearson's chi-squared test, Wilcoxon signed-rank test, and Mann-Whitney U test were used to analyze categorical and continuous variables, with a significance level set at 0.05. Outcomes The outcomes included desired physical changes rating (perception and satisfaction with changes); side effects of GAHT; the sociopsychological impact of GAHT (on self-esteem, body image, psychological wellbeing, social and family relations); overall satisfaction (with treatment results and medical follow-up). Results The changes classified as the most perceptible in those undergoing masculinizing treatment (Group M) were amenorrhea (6 (5.0-6.0) points) and clitoris enlargement (6 (5.0-6.0) points). These were also the ones rated as the most satisfactory (6 (6.0-6.0) points for amenorrhea and 6 (4.0-6.0) points for clitoris enlargement). On those undergoing feminizing therapy (Group F), the alteration voted as the most perceptible was sperm production decrease (6 (2.0-6.0) points), and the ones classified as the most satisfactory were sperm production decrease (6 (4.0-6.0) points) and spontaneous erections decrease (6 (5.0-6.0) points). Side effects were reported by 89.7% of Group M (mood swings were the most common) and 96.3% of Group F (decreased libido was the most frequent). The sociopsychological impact of hormonal treatment was significantly positive in all analyzed variables (p<0.001). Overall satisfaction with treatment results and medical follow-up were rated with 5 points and 4.5 points, respectively. Clinical implications This study provides clinicians with more evidence that GAHT may improve the physical, psychological and social health of transgender people seeking medical transition. Strengths and limitations The strengths of the current study include a high participant count relative to the target population, the acquisition of data on previously unexplored variables, and the significance of being one of the few investigations of its kind conducted in Portugal. However, the study has limitations, including differences in participant characteristics, a small sample size for some variables, potential bias due to the retrospective nature of the study, individualized treatment regimens, and the inclusion of participants from different countries, which limit the generalization of the results. Conclusions This study provides further evidence that GAHT is effective, and that its physical effects are satisfactory while resulting in mostly non-severe nor life-threatening side effects. GAHT is an important therapy in gender dysphoria and has consistent results in improving numerous sociopsychological variables.