Browsing by Author "Carvalheiro, M"
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- Ataxia de Friedreich e Diabetes Mellitus: estudo de uma famíliaPublication . Melo, M; Fagulha, A; Barros, L; Guimarães, J; Carrilho, F; Carvalheiro, MFriedreich's ataxia (FA) is one of the genetic syndromes sometimes associated with diabetes and the most common hereditary ataxia. It is a autosomal recessive neurodegenerative disease, caused by a mutation in the FRDA gene, which originates decreased expression of frataxin, a mitochondrial protein involved in iron metabolism. The disorder is usually manifest in childhood and is characterised by ataxia, dysarthria, scoliosis and feet deformity. About two thirds of patients have hypertrophic cardiomyopathy, 10% have diabetes and 20% have another glucose homeostasis disorder. Both insulin resistance and beta-cell dysfunction are implicated in this patients' diabetes pathophysiology. The mean half-life is 35 years. Cause of death is usually related to cardiomyopathy or diabetes' complications. We report the case study of two twin sisters with 28 years old, in whom FA was diagnosed in the first decade, both of them with diabetes since their early twenties. A third sister with FA is reported, with no glucose homeostasis disorder. They also have two healthy male brothers. Based in this cases, the FA associated diabetes pathophysiology is discussed, concerning the therapeutic approach to these patients and to their diabetic relatives without neurologic symptoms. The role of molecular genetic testing and genetic counselling are also debated.
- Carcinoma anaplásico da tiróide: análise retrospectiva de 12 casosPublication . Martins, TD; Carrilho, F; Leitão, P; Lemos, MC; Campos, MV; Geraldes, E; Carvalheiro, MAnaplastic thyroid tumor is a rare tumor and constitutes 5 to 10% of thyroid carcinomas. Is one of the most aggressive solid tumors and the prognosis is always fatal with a mean survival of 3 to 7 months. The current therapeutics are scarce and inefficacious. A retrospective analysis was performed in 12 clinical cases of anaplastic thyroid tumor observed at the Department of Endocrinology, Diabetes and Metabolism of the University Hospital of Coimbra. We analysed data relative to sex, previous thyroid pathology, clinical signs and symptoms, date of diagnosis, treatment and outcome. In this series, the anaplastic thyroid carcinoma showed to be a highly malignant tumor with a mortality rate of 100% with a survival after the diagnosis between 15 days and 9 months.
- Diabetes Mellitus após transplante renalPublication . Ruas, L; Bastos, M; Alves, R; Rodrigues, D; Barros, L; Mota, A; Carvalheiro, M; Ruas, A; Furtado, AL
- A diabetes na quarta idade: a nossa realidadePublication . Paiva, I; Baptista, C; Ribeiro, C; Leitão, P; Carvalheiro, MAIM: To evaluate the impact of the aging of our population in the growing of diabetes prevalence, among patients treated inward at our department. MATERIAL AND METHODS: The clinical files of 242 diabetics older than eighty years, treated between 1999 and 2002 were studied retrospectively. Demographic (sex, age, year of first contact), clinical (causes of admission, co-morbidities, duration of diabetes, previous hypoglycaemic treatment, duration of hospitalisation and evolution) and biochemical (glycaemia, HbA1c, lipaemia and C-peptide) data were recorded. RESULTS: A progressive rising in the number of aged patients was found during this period (seven in 1999 to 55 in 2002), with a large proportion of women (73%). The more frequent causes of in-hospital treatment were hyperglycaemia (20.6%) and feet ulcers (septic or necrotic) (16.5%). In nearly 42% of the cohort an acute infection was found. Diabetes was unknown in 13% of cases and less than ten years of duration in 38%. In this cohort most of the patients (77%) were treated with oral hypoglycaemic drugs, mostly sulfonylureas. HbA1c mean value was 10.4 +/- 2.2%; C -peptide was measured in a subset of cases (n=79), suggesting deficient insulin secretion in 18% of them. The global mean duration of hospitalisation was eleven days. Nineteen patients (8%) died during the hospitalization. CONCLUSIONS: In this study, we concluded that diabetes in people older than 75 years, is being progressively more often diagnosed. The general metabolic control was bad (HbA1c mean value--10.4 +/- 2.2%), with a significant number of patients presenting a deficient C-peptide secretion, worsened by frequent coexisting infections. So, a strengthened clinical care, directed to a careful diagnosis and treatment, may effectively contribute to a better prognosis and quality of life of aged diabetic patients.
- Estudo comparativo, aleatorizado, em dupla ocultação, de orlistat versus placebo , de eficácia e segurança, em doentes obesos com hipercolesterolemia ligiera a moderadaPublication . Castro, JJ; Dias, T; Chambel, P; Carvalheiro, M; Correia, LG; Guerreiro, L; Marques, O; Medina, JL; Nobre, E; Nunes, JS; Pereira, MC; Polónia, J; Portugal, J; Raimundo, A; Ruas, A; Marques da Silva, P; Vasconcelos, C; Reis, JL; Galvão Teles, AINTRODUCTION: Obesity is a chronic disease and a serious health problem that leads to increased prevalence of diabetes, hypertension, dyslipidemia and gallbladder disease. OBJECTIVE: To evaluate the efficacy of orlistat for weight loss and improved lipid profile compared to placebo in obese patients with hypercholesterolemia, treated over a period of 6 months. METHODOLOGY: In a 6-month, multicenter (10 centers in Portugal), double-blind, parallel, placebo-controlled study, 166 patients, aged 18-65 years, body mass index (BMI) > or = 27 kg/m2, LDL cholesterol > 155 mg/dl, were randomized to a reduced calorie diet (600 kcal/day deficit) plus orlistat three times a day or placebo. Exclusion criteria included triglycerides > 400 mg/dl, severe cardiovascular disease, uncontrolled hypertension, type 1 or 2 diabetes under pharmacological treatment, and gastrointestinal or pancreatic disease. RESULTS: The mean difference in weight from baseline was 5.9% (5.6 kg) in the orlistat group vs. 2.3% (2.2 kg) in the placebo group. In the orlistat group 49% of patients achieved 5-10% weight loss and 8.8% achieved > 10%. The orlistat group showed a significant reduction in total and LDL cholesterol, with similar changes for HDL in both treatment groups. The frequency of gastrointestinal adverse events was slightly higher in the orlistat group than in the placebo group, leading to discontinuation in 7 patients. CONCLUSION: Treatment with orlistat plus a reduced calorie diet for 6 months achieved significant reductions in weight, BMI and lipid parameters.
- Feocromocitoma: actualizações no diagnóstico e tratamentoPublication . Santos, J; Paiva, I; Carvalheiro, M
- Genetic polymorphism of CYP2D6 influences susceptibility to papillary thyroid cancerPublication . Lemos, MC; Carrilho, F; Rodrigues, F; Coutinho, E; Gomes, L; Carvalheiro, M; Regateiro, FJOBJECTIVE: Xenobiotic-metabolizing enzymes are widely polymorphic and confer interindividual variation in the ability to detoxify carcinogens or to activate pro-carcinogens. A common polymorphism of cytochrome P450 2D6 (CYP2D6) results in lack of enzyme activity and has been associated with an altered susceptibility to several cancers. The aim of this study was to investigate the association between the CYP2D6 poor metaboliser genotype and the risk of papillary thyroid cancer (PTC). DESIGN: Retrospective case-control study. PATIENTS: One hundred and eighty-seven patients with PTC and 256 controls. MEASUREMENTS: Genotyping was performed by PCR and restriction enzyme analysis to detect the presence of the common CYP2D6*4 poor metaboliser allele. RESULTS: The frequency of individuals with the homozygous poor metaboliser genotype was lower in the patient group [1.6 vs. 5.5%, P = 0.037, OR = 0.28 (95% CI 0.09-0.93)]. The CYP2D6*4 allele frequency was also lower in the patient group [13.4 vs. 21.7%, P = 0.002, OR = 0.56 (95% CI 0.39-0.80)]. CONCLUSIONS: The results suggest that the poor metaboliser genotype is associated with a protective effect against PTC. This could be explained by a possible role of CYP2D6 on the metabolic activation of putative environmental chemical thyroid carcinogens or by linkage to another cancer-causing gene. Further research may allow the identification of metabolic risk factors and contribute towards understanding the molecular mechanisms involved in thyroid carcinogenesis.
- Hipercortisolismo Recorrente: Após Remoção de Adenoma Hipofisário Secretor de ACTH Associado a Macronódulo da Glândula Supra-RenalPublication . Santos, J; Paiva, I; Gomes, L; Batista, C; Geraldes, E; Rito, M; Velez, A; Oliveira, F; Carvalheiro, MA 29 years old patient was sent to our Outpatient Clinic of Endocrinology presenting clinic of hypercortisolism. Laboratorial study: High urinary free cortisol (UFC); serum cortisol - 25 microg/dl (8 am) (5-25) and 20 microg/dL (11pm); ACTH - 20 pg/mL (9-52) (8 am) and 14 pg/mL (11 pm); serum cortisol after dexamethasone suppression test: 14,9 mg/dL; CRH test: elevation of ACTH; Pituitary MRI: microadenoma; abdominal CT: nodule on the left adrenal. During inferior petrosal sinus sampling with CRH stimulation, ACTH reached 368 pg/mL on the right and 136 pg/mL on the left side. The patient was submitted to transsphenoidal surgery. After surgery, hypertension and physical stigmata improved. In 2006, a relapse of Cushing syndrome was suspected due to worsening of hypertension and increase of weight. A slight increase of UFC, undetectable ACTH and serum cortisol after dexamethasone suppression test equal to 16 microg/dL were found. On abdominal CT, the adrenal nodule kept the same characteristics. In December 2006, the patient was submitted to left adrenalectomy. After surgery, blood pressure normalized, UFC and serum cortisol were reduced, needing substitutive therapy. Progressive tapering of hydrocortisone doses lead to discontinuation in March 2007. He is clinically well, without any treatment. This is an unusual case, in which after surgical cure of Cushing disease, secretory autonomy of a coexisting adrenal nodule occurred. This clinical case is relevant, pointing out the complexity of hypercortisolism cases and the need of long follow-up.
- Hiperosmolaridade Diabética: análise retrospectiva de 60 casosPublication . Campos, MV; Bastos, M; Martins, T; Leitão, P; Lemos, MC; Carvalheiro, M; Ruas, AAIMS AND METHODS: Our aims were to determine the frequency of diabetic hyperosmolality (DH) in our Department, its causes, therapeutic implications and evolution. A five-years retrospective study was performed in 60 patients regarding age, sex, type and duration of diabetes mellitus (DM), previous antidiabetic therapy, underlying diseases, biochemical data, precipitating factors, therapeutic management and outcome. RESULTS: The hyperosmolar coma was responsible for 90% of the metabolic comas and for 3% of the diabetic patients. The median age of the cohort was 54.6 +/- 9.4 years, being females 61.7% and males 38.3% In 40% no prior diagnosis of DM was made and in the remaining patients the previous antidiabetic therapy was unknown in 61%. Altered consciousness was found in 90%, being 28% in coma. The metabolic acidosis was detectable in 22.2%, the average glycaemia was 956 +/- 267 mg/dl and the osmolality was 349.4 +/- 34.3 mosm/l. The precipitating factors were: poor metabolic control in all patients (HbA1C 12.5 +/- 2.75%), infections in 76.6%, suspension of antidiabetic therapy in 10% and concomitant hyperglycaemic drugs in 6.6% of patients. The global mortality was 20%. CONCLUSIONS: The majority of the situations could be preventable if an attempted screening and diagnosis of DM was made and precipitating factors avoid or promptly treated.
- Hiperplasia Congénita da Suprarrenal de Expressão Tardia por Deficiência de 21-HidroxilasePublication . Vieira, A; Paiva, S; Baptista, C; Ruas, L; Silva, J; Gonçalves, J; Carrilho, F; Carvalheiro, MThe deficiency of the enzyme 21-hydroxylase (21-HO) is responsible for about 90% to 95% of all cases of congenital adrenal hyperplasia (HCSR). This disorder is one of the most frequent hereditary illnesses of autosomal recessive trait. The illness can be presented in two clinical forms: 1 - classic, subdivided in saltwasting form and simple virilizing form; 2 - nonclassic or late-onset. The severity of the illness is correlated with the degree of enzymatic activity of 21-HO, which depends on the type of mutation that occurs in gene CYP21A2. The late onset congenital adrenal hyperplasia is that one where the enzymatic blockade is less intense. The clinical is variable: precocious pubarche, polycystic ovaries, hirsutism, oligoamenorrhea, acne and infertility. Gold standard for the diagnosis of late onset congenital adrenal hyperplasia consists on the test of the tetracosactide, considering itself diagnostic positive when 17-hidroxiprogesterona (17-OHP) is higher of 10-15 ng per mL. Many patients don't need treatment; however, if necessary, such a treatment essentially consists on the Administration of glucocorticoids and antiandrogens. Considering that affected individuals and the carriers may have a severe mutation in CYP21A2, they can have descendents with the classic form (if their partner is also a carrier of a severe mutation), it is mandatory the genetic study of the couple. The authors illustrate the importance of this genetic study through five clinical cases, whose common link is the desire to have children, as well as the presence on the feminine element of late onset congenital adrenal hyperplasia. The genetic study of the couple allows adequate pre-conception counseling and also prevents the use of corticoids throughout the pregnancy (if there's no risk of descendents being affected with the classic form). This aspect must be had in account in programming the pregnancy, in order to prevent therapeutics and unnecessary distrusts.
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