Browsing by Author "Melo, 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.
- Estupor recurrente idiopático. ¿Un caso de estupor por endocepinas?Publication . Melo, M; Madeira, S; Gaspar, E; Pereira de Moura, JM; Freire-Gonçalves, A; Alexandrino, MB; Moura, JA
- Long-term survival in a patient with brain metastases of papillary thyroid carcinomaPublication . Guelho, D; Ribeiro, C; Melo, M; Carrilho, FWe present the case of a 43-year-old woman who underwent total thyroidectomy with bilateral lymphadenectomy for a papillary thyroid carcinoma (PTC), solid variant (T4bN1bMx), with V600E BRAF mutation. After ablative therapy, she presented undetectable thyroglobulin (Tg) but progressively increasing anti-Tg antibodies (TgAbs). During follow-up, nodal, lung and brain metastases were identified. She was submitted to surgical excision of lung lesions, radiosurgery of brain metastases and five radioiodine treatments. The latest brain MRI showed no lesions, pulmonary CT showed stable micronodules and there was progressive reduction in TgAbs. This is a peculiar case of a PTC with lung and brain metastatic lesions detected through TgAbs. Initial histological and molecular study suggested a more aggressive clinical behaviour, which was eventually confirmed. Although PTC brain metastases are extremely rare and present poor prognosis, our patient presented a good response to treatment and longer survival than usually reported for similar cases.
- Mastocitose sistemática: a propósito de uma caso clínicoPublication . Melo, M; Deus, A; Aragão, A; Magalhães, E; Santos, F; Saldanha, MH
- Nefropatia diabética: taxa de filtração glomerular calculada e estimadaPublication . Guimarães, J; Bastos, M; Melo, M; Carvalheiro, MOBJECTIVE: To assess in diabetic nephropathy, the accuracy of estimated creatinine clearance (calculated with the Cockroft Gault formula) and the clearance of the Tc99m-DTPA, to measure the glomerular filtration rate (GFR). PATIENTS AND METHODS: We analysed the GFR measure by Tc99m-DTPA method and the estimated by the Cockroft Gault formula, in 21 subjects with type 1 or type 2 diabetes. RESULTS: There was a strong positive correlation between the two methods but the Cockroft Gault formula underestimated the GFR. CONCLUSIONS: The formula gives a accurate estimates of GFR, when GFR is <100 ml/min/1,73 m2. Beside the underestimation, the formula could be used in the management of diabetic nephropathy because the repeated isotope assessments of renal function are impracticable.
- The diseases we cause: Iatrogenic illness in a department of internal medicinePublication . Madeira, S; Melo, M; Porto, J; Monteiro, S; Pereira de Moura, JM; Alexandrino, MB; Moura, JJBACKGROUND: The aim of this study was to estimate the incidence, main causes, and risk factors of iatrogenic disease occurring in a department of internal medicine. METHODS: Over a 1-year period, physicians systematically filled out a 2-page questionnaire for all patients admitted to the ward. A database was created and the data were statistically analyzed. Patients undergoing immunosuppressive, chemo-, or radiation therapy were excluded. Missing data were completed by reviewing the patients' charts. The patients were then divided into two groups: those with and those without iatrogenic disease. The groups were compared using several parameters including gender, age, social features, days of hospitalization, associated illness, functional status, medical impression, prognosis, associated renal or liver function impairment, drugs taken daily, and outcome. In the group with iatrogenic disease, the type, severity, and predictability were also analyzed. RESULTS: Of the 879 patients admitted to the ward, 445 completed questionnaires and were included in the study. A total of 102 patients (22.9%) developed 121 iatrogenic events. Forty-four patients (43.1%) were admitted for iatrogenic illness, 10 (9.8%) developed life-threatening events, and in 3 (6.8%) it was the cause of death. Fifty-eight patients (56.8%) registered 77 episodes of iatrogenic disease during their hospital stay, 20 (19.6%) developed life-threatening events, and 9 (11.7%) died, 4 (5.2%) of an iatrogenic cause (nosocomial infections). Significant differences were found in 20 out of 26 parameters studied (p<0.005 for all cases; 95% confidence interval). Eighteen percent of all iatrogenic disease was severe, 61.9% predictable, 54.5% avoidable, and 59% drug-related, 80% of which was due to side effects or adverse reactions. Infection and metabolic and electrolyte disorders were the most frequent effects. CONCLUSIONS: It is possible to identify risk factors for iatrogenic events. Chronically ill elderly inpatients are the main target of iatrogenic events.
- Thyroid carcinoma in children and young adults: retrospective review of 19 casesPublication . Saraiva, J; Ribeiro, C; Melo, M; Costa, G; Carrilho, FIntroduction: Thyroid carcinoma is rare in children and young adults. Most of management guidelines are based in data from adult population. Several controversies remain regarding the aggressiveness of clinical presentation and therapeutic approach. Objective: To evaluate all differentiated thyroid carcinoma patients with less than 20 years-old at presentation reflecting the experience of our unit in relation to diagnosis, treatment and follow-up of this clinical entity. Material and Methods: This is a retrospective review of clinical records of all children and young adults followed at Oncology Consultation of Department of Endocrinology of Centro Hospitalar e Universitário de Coimbra between 1996 and 2012. Results: Nineteen patients with mean age of 16 years old were followed, 13 girls and 6 boys. None of the patients had previous neck irradiation. A palpable cervical mass was the presenting complaint in 84.6%. FNA was performed in 15 patients and was diagnostic or suspicious of malignancy in 71.4%. Total thyroidectomy was performed in 18 cases (94.7%). Papillary carcinoma was identified in all. Vascular invasion and multicentry occurred in 21.1%. Mean tumor size was 2.5cm. Cervical lymph node involvement was diagnosed in 31.6% and distant metastases in 5.2%. The majority of patients (18 in 19) were classified as stage I disease. All patients received thyroxine suppressive therapy and postoperative radioiodine ablation was given to 84.2% (mean dose 85.7mCi). During mean follow-up of almost 6 years, 16 patients remain disease free. Conclusion: In our series, cervical lymph node and distant metastases rates were similar to that found in adult population. Overall prognosis was very good.
- Tiroidites autoimunesPublication . Melo, MThe term autoimmune thyroiditis encompasses a group of high prevalence thyroid disorders, which have been classified in different ways throughout the years. In this article some aspects related to its classification, epidemiology, susceptibility factors, pathogenesis, histology, diagnosis and treatment are reviewed. Some comments on the similar pathogenesis of Graves' disease are also made.