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Objectives: To compare complications associated with percutaneous gastrostomies performed using PUSH and PULL techniques, whether endoscopic (PEG) or radiological (PRG), in a tertiary-level hospital. Methods: This was a prospective observational study. Adult patients who underwent percutaneous PULL or PUSH gastrostomy using PEG or PRG techniques at the Virgen del Rocio University Hospital and subsequently followed up in the Nutrition Unit between 2009-2020 were included. X2 tests or Fisher's test were used for the comparison of proportions when necessary. Univariate analysis was conducted to study risk factors for PRG-associated complications. Results: n = 423 (PULL = 181; PUSH = 242). The PULL technique was associated with a higher percentage of total complications (37.6% vs. 23.8%; p = 0.005), exudate (18.2% vs. 11.2%; p = 0.039), and irritation (3.3% vs. 0%; p = 0.006). In the total sample, there were 5 (1.1%) cases of peritonitis, 3 (0.7%) gastrocolic fistulas, and 1 (0.2%) death due to complications associated with gastrostomy. Gender, age, and different indications were not risk factors for a higher number of complications. The most common indications were neurological diseases (35.9%), head and neck cancer (29%), and amyotrophic lateral sclerosis (17.2%). Conclusions: The PULL technique was associated with more total complications than the PUSH technique, but both were shown to be safe techniques, as the majority of complications were minor.
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INTRODUCTION/OBJECTIVES: Mutations in the ARMC5 (armadillo repeat containing 5, OMIM 615549) gene, a putative tumor suppressor gene, have recently been identified as a common cause of sporadic and familial bilateral macronodular adrenal hyperplasia (BMAH). Familial BMAH is thought to be caused by two mutations, one germline and the other somatic, as suggested by the 2-hit theory. The objective is to describe a new mutation and develop its clinical characteristics and implications. METHODS, RESULTS AND CONCLUSIONS: We present an affected family with 11 members carrying a novel mutation of the ARMC5 gene (NM_001288767.1): c.2162T>C p. (Leu721Pro). Two of the carriers developed clinical Cushing's syndrome (CS), two mild autonomous cortisol secretion (MACS) and one presented with autonomous cortisol secretion (ACS). Four patients developed other tumors, three of whom died from this cause. It is not known whether these tumors could be related to the described mutation.
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Hiperplasia Suprarrenal Congênita , Síndrome de Cushing , Neoplasias , Humanos , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/genética , Síndrome de Cushing/genética , Mutação em Linhagem Germinativa , Hidrocortisona , Hiperplasia , Proteínas Supressoras de Tumor/genéticaRESUMO
Gender affirming treatment in transgender women is based on a combination of antiandrogens and estrogens, with the latter maintained over the long term. When prescribing these treatments, we must consider the possibility of developing estrogen-dependent breast cancer. In transgender women, a breast cancer incidence of 4.1 per 100,000 has been estimated, which would increase the risk by 46% in relation to cisgender men but decrease it by 70% in relation to cisgender women. It is known that certain gene mutations such as BRCA1 imply an increased risk of breast cancer, but at present the risk in transgender women with BRCA1 treated with estrogens is not well established. We present the case of a transgender woman with a family history of breast cancer and BRCA1 mutation and the therapeutic decisions made in a multidisciplinary team. Following this case, we review and discuss the published literature.
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Neoplasias da Mama , Pessoas Transgênero , Transexualidade , Masculino , Humanos , Feminino , Transexualidade/tratamento farmacológico , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/genética , Estrogênios , Mutação , Proteína BRCA1/genéticaRESUMO
Objectives: To describe the complications associated with the different gastrostomy techniques [endoscopic (PEG), radiologic (PRG), and surgical (SG)] performed in the last 26 years in a terciary hospital. Methods: Retrospective observational study. Patients who underwent gastrostomy at the Virgen del Rocío University Hospital between 1995 and 2021 were included. For PEG, the PULL technique was performed until 2018 and subsequently the PUSH technique predominantly. For PRG, a pigtail catheter was used until 2003, a balloon catheter between 2003 and 2009, and a balloon catheter with gastropexy between 2015 and 2021. For SG, the conventional technique (CSG) was performed until 2009 and since then the laparoscopic assisted percutaneous gastrostomy (PLAG) technique. Descriptive analysis was performed obtaining the median and quartiles of the quantitative variables [P50 (P25-P75)] and the frequency for the qualitative variables [n (%)].The comparison of complications between patients who underwent different techniques was performed with Fisher's test. Results: n = 1,070 (PEG = 608, PRG = 344, SG = 118). The three most frequent indications were head and neck tumors, neurological diseases and gastroesophageal tumors. The percentage of patients who had any complication was 48.9% (PEG-PULL), 23.7% (PEG-PUSH), 38.5% (pigtail PRG), 39.2% (balloon PRG), 29.7% (balloon with gastropexy PRG), 87.3% (CSG), and 41.26% (PLAG). 2 (0.18%) patients died from gastrostomy-related complications. 18(1.68%) presented with peritonitis and 5 (0.4%) presented with gastrocolic fistula. The rest of the complications were minor. Conclusion: Gastrostomy in any of its modalities is currently a safe procedure with a low rate of complications, most of which are minor.
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Objective: The aim of this study is to describe the characteristics, survival and prognostic factors of a cohort of patients with bone metastases (BMs) from differentiated thyroid carcinoma (DTC). Methods: This was a multicenter retrospective observational study including patients diagnosed with BMs from DTC between 1980 and 2021. A Cox regression was performed to study prognostic factors for 5- and 10-year survival. Kaplan-Meier and log-rank tests were performed for the survival analysis and comparison between groups. Results: Sixty-three patients were evaluated. Median follow-up from BM diagnosis was 35 (15-68) months. About 30 (48.4%) patients presented with synchronous BMs. Regarding histology, 38 (60.3%) had the papillary variant. BMs were multiple in 32 (50.8%) patients. The most frequent location was the spine (60.3%). Other metastases were present in 77.8%, mainly pulmonary (69.8%). Concerning treatment, 54 (85.9%) patients received I131, with BM uptake in 31 (49.2%) and 25 (39.7%) received treatment with multikinase inhibitors. Regarding complications, 34 (54%) patients had skeletal-related events, 34 (54%) died and 5- and 10-year overall survival was 42.4% and 20.4%, respectively. Significant prognostic factors in the multivariate analysis were the presence of lymph node involvement (hazard ratio (HR): 2.916; 95% confidence interval (CI): 1.013-8.391; P = 0.047) and treatment with I131 (HR 0.214 (95% CI 0.069-0.665); P = 0.008) at 5 years, the presence of other metastases (HR 6.844. 95% CI 1.017-46.05; P = 0.048) and treatment with I131 (HR 0.23 (95% CI 0.058-0.913); P = 0.037) at 10 years. Conclusions: Our study reflects the management of patients with bone metastases from differentiated thyroid carcinoma in real clinical practice in several centers in southern Spain. Overall survival at 5 and 10 years was lower in patients who were not treated with I131, had nodal involvement and/or had other metastases.
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Adenocarcinoma , Neoplasias da Glândula Tireoide , Humanos , Prognóstico , Neoplasias da Glândula Tireoide/diagnóstico , Estudos Retrospectivos , Linfonodos/patologiaRESUMO
OBJECTIVE: To analyse the main characteristics of patients and the health outcomes obtained and to evaluate the impact of peripheral artery disease (PAD) in patients treated in our multidisciplinary Diabetic Foot Unit. RESEARCH DESIGN AND METHODS: Observational prospective study. 273 patients from two different populations (with and without PAD - classified according to the presence of distal pulses) treated over a 14-month period in the multidisciplinary Diabetic Foot Unit were included. The data on patient characteristics and outcomes were analysed for the purpose of comparison. For the inference study, a comparison of medians with the non-parametric test for independent samples for the quantitative variables and a χ2 test for the comparison of proportions in qualitative variables were performed. RESULTS: Patients with PAD ulcers were older (60 (54-67) vs. 64 (75-81), p=0.000) and had a higher macrovascular burden (8.1% vs. 29% for ischaemic heart disease history, p=0.000; 6.7% vs. 18.1% for cerebrovascular disease history, p=0.004). Their Texas Score was higher (p=0.000) and their major amputation rate was higher (1.4% vs. 12.3%, p=0.001). They had less background of previous ulcers (52.6% vs. 26.8%, p=0.000), their episode duration was shorter (4 (0-10) vs. 0 (0-3) weeks, p=0.000), and their proportional need for antibiotic therapy was lower (64.4% vs. 51.4%, p=0.03). CONCLUSIONS: The differences found between ulcers with and without vascular involvement support the need for a different approach and for the inclusion of vascular surgeons on the team. The multidisciplinary care model for diabetic foot patients could be effective and improve health outcomes.
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Diabetes Mellitus , Pé Diabético , Humanos , Amputação Cirúrgica , Pé Diabético/terapia , Estudos Prospectivos , Fatores de Risco , Úlcera , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou maisRESUMO
INTRODUCTION: Intermediate Inborn Errors of Metabolism (IEM) are a group of inherited diseases that include phenylketonuria (PKU), tyrosinemia II (TSII), organic acidaemias and ornithine transcarbamylase deficiency (OTCD), among others. They are increasingly more common in adults due to improved management. This has allowed more affected women to consider having children with good prospects. However, pregnancy may worsen metabolic control and/or increase maternal-fetal complications. The objective is to analyse the characteristics and outcomes of pregnancies of our patients with IEM. METHODS: Retrospective descriptive study. Pregnancies of women with IEM attended to at the adult IEM referral unit of the Hospital Universitario Virgen del Rocío were included. The qualitative variables were described as n(%) and the quantitative as P50 (P25-P75). RESULTS: 24 pregnancies were recorded: 12 newborns were healthy, 1 inherited their mother's disease, 2 had maternal phenylketonuria syndrome, 1 was stillborn (gestational week 31â¯+â¯5), 5 were spontaneous abortions and 3 were voluntarily terminated. The gestations were divided into metabolically controlled and uncontrolled. CONCLUSIONS: Pregnancy planning and multidisciplinary management through to postpartum is essential to ensure maternal and fetal health. The basis of treatment in PKU and TSII is a strict protein-limited diet. Events that increase protein catabolism in organic acidaemias and DOTC should be avoided. Further investigation of pregnancy outcomes in women with IEM is needed.
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Aborto Espontâneo , Erros Inatos do Metabolismo dos Aminoácidos , Erros Inatos do Metabolismo , Criança , Gravidez , Adulto , Humanos , Recém-Nascido , Feminino , Estudos Retrospectivos , Erros Inatos do Metabolismo/terapia , Resultado da GravidezRESUMO
OBJECTIVES: We aimed to describe and compare the complications associated with different percutaneous radiologic gastrostomy (PRG) techniques. METHODS: A retrospective and prospective observational study was conducted. Patients who underwent a PRG between 1995-2020 were included. TECHNIQUES: A pigtail catheter was used until 2003, a balloon catheter without pexy was used between 2003-2009 and a balloon catheter with gastropexy was used between 2015-2021. For the comparison of proportions, X2 tests or Fisher's test were used when necessary. Univariate analysis was performed to study the risk factors for PRG-associated complications. RESULTS: n = 330 (pigtail = 114, balloon-type without pexy = 28, balloon-type with pexy = 188). The most frequent indication was head and neck cancer. The number of patients with complications was 44 (38.5%), 11 (39.2%) and 54 (28,7%), respectively. There were seven (25%) cases of peritonitis in the balloon-type without-pexy group and 1 (0.5%) in the balloon-type with-pexy group, the latter being the only patient who died in the total number of patients (0.3%). Two (1%) patients of the balloon-type with-pexy group presented with gastrocolic fistula. The rest of the complications were minor. CONCLUSIONS: The most frequent complications associated with the administration of enteral nutrition through PRG were minor and the implementation of the balloon-type technique with pexy has led to a decrease in them.
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Gastrostomia , Radiologia , Humanos , Gastrostomia/efeitos adversos , Gastrostomia/métodos , Estudos Retrospectivos , Centros de Atenção Terciária , Radiografia Intervencionista/métodosRESUMO
Objectives: The aim of this study is to investigate in depth diabetes mellitus associated with immune checkpoint inhibitors (DM-ICIs) by analysing a case series. We also evaluated the clinical impact of flash glucose monitoring (FGM) systems in the management of this entity. Methods: We conducted an observational cohort study of DM-ICIs diagnosed in two hospitals in Seville (Spain). Patients with a new diagnosis of diabetes mellitus (DM) or with sudden worsening of preexisting DM after starting treatment with ICIs, with a random 5 hour-postprandial C-peptide value of <0.6 nmol/L and without possibility of subsequent withdrawal of insulin treatment, were included. Results: A total of 7 cases were identified, mostly males (n = 6; 85.7%), with a mean age of 64.9 years. The mean glycated hemoglobin (HbA1c) upon diagnosis was 8.1%, with diabetic ketoacidosis (DKA) observed in 6 cases (85.7%). Subcutaneous flash glucose monitoring (FGM) systems were used in six cases, with a mean follow-up period of 42.7 weeks. During the first 90 days of use, mean average glucose was 167.5 mg/dL, with a coefficient of variation (CV) of 34.6%. The mean time in the range 70-180 mg/dL (TIR) was 59.7%, with a mean time above range (TAR) 181-250 mg/dL of 27.8% and a mean TAR > 250 mg/dL of 10.2%. The mean time below range (TBR) 54-69 mg/dL was 2%, while the mean TBR < 54 mg/dL was 0.3%. The mean glucose management indicator (GMI) was 7.3%. No significant differences were observed in FGM values for the following 90 days of follow-up. A progressive improvement in all parameters of glycaemic control was observed between the first month of FGM use and the sixth month of FGM use. Of note, there was a decrease in mean CV (40.6% to 34.1%, p = 0.25), mean TAR 181-250 (30.3% to 26%, p = 0.49), mean TAR > 250 mg/dL (16.3% to 7.7%, p = 0.09), mean TBR 54-69 mg/dL (5.2% to 2%, p = 0.16), and mean TBR < 54 mg/dL (1.8% to 0.2%, p = 0.31), along with an increase in mean values of TIR 70-180 mg/dL (46.5% to 60.5%, p = 0.09). The lack of statistical significance in the differences observed in the mean FGM values over the follow-up period may be related to the small sample size. Conclusion: DM-ICI is recognised by a state of sudden-onset insulinopenia, often associated with DKA. The use of FGM systems may be a valid option for the effective management of DM-ICIs and for the prevention of severe hyperglycaemic and hypoglycaemic episodes in this condition.
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Diabetes Mellitus , Cetoacidose Diabética , Masculino , Humanos , Pessoa de Meia-Idade , Idoso , Feminino , Automonitorização da Glicemia , Glicemia/análise , Inibidores de Checkpoint Imunológico , Estudos de CoortesRESUMO
Introduction: Background: type 2 diabetes (T2D) is a risk factor for nonalcoholic fatty liver disease (NAFLD). Objective: to evaluate the prevalence of NAFLD in a cohort of patients with T2D. Methods: an observational, descriptive study performed between May 2018 and December 2019 at the Endocrinology and Nutrition Unit. The χ² test was performed for qualitative variables and a non-parametric test for the comparison of medians of quantitative variables. Steatosis degree was defined by the coefficient attenuated parameter (CAP): (S0: < 248 dB/m; S1: 248-268 dB/m; S2: 268-288 dB/m; S3: > 288 dB/m) or stiffness: F0-F1: < 8 kPa; F2: 8-10 kPa; F3: 10-15 kPa; F4: > 15 kPa, using transient elastography (TE) (FibroScan®). A univariate analysis was performed and subsequently a multivariate analysis with statistically significant variables used to study the predictive factors of intense steatosis and advanced fibrosis. Results: n = 104 patients with T2D; 84 (80.7 %) were obese. TE demonstrated advanced fibrosis in 20 % and intense steatosis (S3) in more than 50 %. Lower total bilirubin (OR: 0.028; 95 % CI: (0.002-0.337); p = 0.005) was found to be an independent factor for S3 steatosis in the multivariate analysis. BMI ((OR: 1.497; 95 % CI: (1.102-2.034); p = 0.01)) was a predictive factor for advanced fibrosis in a multivariate analysis. Conclusions: NAFLD-associated intense steatosis and NAFLD-associated fibrosis were commonly found in patients with T2DM and obesity. Diabetic patients should be screened for liver disease as one more target organ.
Introducción: Antecedentes: la diabetes de tipo 2 (DM2) es un factor de riesgo para la enfermedad del hígado graso no alcohólico (EHGNA). Objetivo: evaluar la prevalencia de la EHGNA en una cohorte de pacientes con DM2. Métodos: estudio descriptivo observacional realizado entre mayo de 2018 y diciembre de 2019 en la Unidad de Endocrinología y Nutrición. Se realizó una prueba de χ² para las variables cualitativas y una prueba no paramétrica para la comparación de medianas de variables cuantitativas. El grado de esteatosis se definió mediante el parámetro coeficiente atenuado (CAP): (S0: < 248 dB/m; S1: 248-288 dB/m; S2: 268-288 dB/m; S3: > 288 dB/m) o rigidez: F0-F1: < 8 kPa; F2: 8-10 kPa; F3: 10-15 kPa; F4: > 15 kPa, usando la elastografía transitoria (TE) (FibroScan®). Se realizó un análisis univariante y posteriormente un análisis multivariante con las variables estadísticamente significativas para estudiar los factores predictivos de esteatosis intensa y fibrosis avanzada. Resultados: n = 104 pacientes con DM2; 84 (80,7 %) eran obesos. La TE demostró fibrosis avanzada en el 20 % y esteatosis intensa (S3) en más del 50 %. Los niveles disminuidos de bilirrubina total (OR: 0.028; 95 % CI: (0.002-0.337); p = 0.005) se encontraron como factores independientes para la esteatosis S3 en el analisis multivariable. El IMC (OR: 1.497; 95 % CI: (1.102-2.034); p = 0.01) fue un factor predictivo de fibrosis avanzada. Conclusiones: la esteatosis intensa asociada a EHGNA y la fibrosis asociada a EHGNA se encontraron comúnmente en pacientes con DM2 y obesidad. Los pacientes diabéticos deben someterse a pruebas de detección de enfermedad hepática como un órgano diana más.
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Diabetes Mellitus Tipo 2 , Hepatopatia Gordurosa não Alcoólica , Bilirrubina , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Fibrose , Humanos , Fígado/patologia , Cirrose Hepática/complicações , Cirrose Hepática/epidemiologia , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Hepatopatia Gordurosa não Alcoólica/patologia , Obesidade/epidemiologia , PrevalênciaRESUMO
Introduction: Water and electrolyte disturbances are common after pituitary surgery and can generally be classified into transient hypotonic polyuria and transient or permanent diabetes insipidus (DI). The prevalence varies in the literature between 31-51% for transient hypotonic polyuria, 5.1-25.2% for transient DI, and 1-8.8% for permanent DI. Objective: The aim of this study was to identify the prevalence of water and electrolyte disturbances with polyuria and the preoperative and postoperative predictive factors in patients undergoing surgery with an extended endoscopic endonasal approach. Material and methods: This retrospective observational descriptive study included 203 patients with a diagnosis of pituitary adenoma who underwent their first transsphenoidal surgery via the extended endoscopic endonasal approach between April 2013 and February 2020. The diagnosis of water and electrolyte disturbances was based on the criterion for polyuria (>4 ml/kg/h). Postoperative polyuria was defined as those cases diagnosed during the immediate postsurgical period that resolved prior to discharge. Transient DI included all cases with a duration of less than 6 months but still present at hospital discharge, and permanent DI included cases lasting more than 6 months. Results: The overall prevalence of water and electrolyte disorders was 30.5% (62), and the prevalence of postoperative polyuria was 23.6% (48). The median number of desmopressin doses administered to patients with postoperative polyuria was one dose (interquartile range [IQR] 1-2), and thus the median duration of treatment was 0 days. The median initiation of desmopressin was the second day after surgery (IQR 1-2). The overall prevalence of DI was 6.89%. Among the patients with transient DI, the duration was less than 3 months in three patients (1.47%), and between 3 and 6 months in two (0.98%). Nine patients had permanent DI (4.43%). (4.43%). Conclusions: The prevalence of electrolyte disturbances in our study was high, although similar to that found in the literature. Most of the cases were transient hypotonic polyuria that resolved within one day. The prevalence of transient DI in our cohort was lower than that described in the literature, while permanent DI was similar.
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Neoplasias Hipofisárias , Complicações Pós-Operatórias , Desequilíbrio Hidroeletrolítico , Desamino Arginina Vasopressina , Diabetes Insípido/etiologia , Humanos , Neoplasias Hipofisárias/cirurgia , Poliúria/etiologia , Estudos Retrospectivos , Desequilíbrio Hidroeletrolítico/etiologiaRESUMO
Recent scientific evidence has shown an increased risk of fractures in patients with obesity, especially in those with a higher visceral adipose tissue content. This contradicts the old paradigm that obese patients were more protected than those with normal weight. Specifically, in older subjects in whom there is a redistribution of fat from subcutaneous adipose tissue to visceral adipose tissue and an infiltration of other tissues such as muscle with the consequent sarcopenia, obesity can accentuate the changes characteristic of this age group that predisposes to a greater risk of falls and fractures. Other factors that determine a greater risk in older subjects with obesity are chronic proinflammatory status, altered adipokine secretion, vitamin D deficiency, insulin resistance and reduced mobility. On the other hand, diagnostic tests may be influenced by obesity and its comorbidities as well as by body composition, and risk scales may underestimate the risk of fractures in these patients. Weight loss with physical activity programs and cessation of high-fat diets may reduce the risk. Finally, more research is needed on the efficacy of anti-osteoporotic treatments in obese patients.
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Densidade Óssea , Resistência à Insulina , Idoso , Humanos , Gordura Intra-Abdominal , Obesidade/complicações , Gordura SubcutâneaRESUMO
Since the beginning of the practice of surgery, the reduction of postoperative complications and early recovery have been two of the fundamental pillars that have driven the improvement of surgical techniques and perioperative management. Despite great advances in these fields, the rationalization of antibiotic prophylaxis, and other important innovations, postoperative recovery (especially in elderly patients, oncological pathology or digestive or head and neck surgery) is tortuous. This can be explained by several reasons, among which, malnutrition has a major role. Perioperative nutritional support, included within the ERAS (Enhanced Recovery After Surgery) protocol, has proven to be a main element and a critical step to achieve better surgical results. Starting with the preoperative nutritional assessment and treatment in elective surgery, we can improve nutritional status using oral supplements and immunomodulatory formulas. If we add early nutritional support in the postoperative scenario, we are able to significantly reduce infectious complications, need for intensive care unit (ICU) and hospital stay, costs, and mortality. Throughout this review, we will review the latest developments and the available literature.
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Desnutrição , Idoso , Humanos , Tempo de Internação , Desnutrição/prevenção & controle , Avaliação Nutricional , Estado Nutricional , Apoio Nutricional , Assistência Perioperatória , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controleRESUMO
Extra virgin olive oil (EVOO) is a cornerstone of the Mediterranean diet (MedD). In this narrative review, we synthesize and illustrate the various characteristics and clinical applications of EVOO and its components-such as oleic acid, hydroxytyrosol, and oleuropein-in the field of clinical nutrition and dietetics. The evidence is split into diet therapy, oleic acid-based enteral nutrition formulations and oral supplementation formulations, oleic acid-based parenteral nutrition, and nutraceutical supplementation of minor components of EVOO. EVOO has diverse beneficial health properties, and current evidence supports the use of whole EVOO in diet therapy and the supplementation of its minor components to improve cardiovascular health, lipoprotein metabolism, and diabetes mellitus in clinical nutrition. Nevertheless, more intervention studies in humans are needed to chisel specific recommendations for its therapeutic use through different formulations in other specific diseases and clinical populations.
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Dieta Mediterrânea , Ácido Oleico , Antioxidantes/uso terapêutico , Suplementos Nutricionais , Humanos , Azeite de Oliva/uso terapêuticoRESUMO
OBJECTIVE: To present our experience in the clinical follow-up of patients undergoing a gastric bypass. METHOD: Description of six cases under follow-up by our unit after undergoing a gastric bypass at another private centre. RESULTS: The 6 patients presented complications, the most notable being the death of one patient due to severe malnutrition and the need for revision surgery in another for the same reason, destabilisation of type 1 diabetes mellitus in another patient and fat-soluble vitamin deficiency in all of them. CONCLUSIONS: There are few publications that support the safety of gastric bypass as a treatment for obesity. In our experience, it is a technique associated with a high rate of serious complications. As it is a technique that is not yet standardised, we consider that these cases should be operated on in centres where there is a multidisciplinary team with expertise in the management of possible complications, with close follow-up by surgeons and endocrinologists.
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Derivação Gástrica , Endocrinologistas , Derivação Gástrica/efeitos adversos , Humanos , Obesidade/etiologia , Reoperação/métodosRESUMO
We present the case of a patient with female sex assignment at birth whose parents consulted with a pediatrician when the child was 12 years old, indicating that despite female sex assignment, she felt that she (henceforth "he") had a male gender identity and was gynephilic. Medical examination revealed a 46XY karyotype, a primary amenorrhea and an appropriate testosterone increase after HCG stimulation test. The patient was diagnosed then with a 46,XY disorder of sex development with androgen insensitivity syndrome, but then he missed subsequent appointments. At the age of 24, he resumed medical follow-up to reaffirm his male gender identity through sex reassignment surgery. His physical examination showed a Tanner stage III-IV breast development, vulva, clitoris, normal-sized vagina, absence of uterus and ovaries on transvaginal ultrasound, bilateral cryptorchidism on abdominal-pelvic MRI and osteoporosis on bone densitometry. The results of the blood tests were LH 24.5 mIU/mL [normal range, 1.7-8.6 mIU/mL for men] and testosterone 8.8 nmol/L [8.7-33 nmol/L]; conversely, FSH, estradiol, progesterone, and prolactin levels were normal. The molecular genetic analysis revealed an androgen receptor gene mutation associated with complete androgen insensitivity syndrome. At present, the patient has undergone bilateral orchiectomy and has initiated treatment with topical testosterone and bisphosphonates. We have yet to evaluate the effects and decide the best therapy taking into account that he has a male gender identity but complete androgen insensitivity syndrome.