CTLA4 genetic polymorphisms have been associated with type 1 diabetes. We genotyped 207 patients and 249 controls for the most frequently investigated polymorphism of the CTLA4 gene (+49A/G (rs231775)). No significant differences were observed, suggesting that this polymorphism is not strongly associated with type 1 diabetes in the Portuguese population.
The contribution of gluconeogenesis to hepatic glucose production (GP) was quantified after 2H2O ingestion by Bayesian analysis of the position 2 and 5 2H-NMR signals (H2 and H5) of monoacetone glucose (MAG) derived from urinary acetaminophen glucuronide. Six controls and 10 kidney transplant (KTx) patients with cyclosporine A (CsA) immunosuppressant therapy were studied. Seven KTx patients were lean and euglyc...
The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. Association studies of VDR polymorphisms and risk of type 1 diabetes often produced conflicting results in different ethnic backgrounds. The aim of this study was to test for association between common VDR polymorphisms and the genetic susceptibility to type 1 diabetes in the Portuguese population. We genotyped 207...
The contribution of gluconeogenesis to hepatic glucose production (GP) was quantified after (2)H(2)O ingestion by Bayesian analysis of the position 2 and 5 (2)H-NMR signals (H2 and H5) of monoacetone glucose (MAG) derived from urinary acetaminophen glucuronide. Six controls and 10 kidney transplant (KTx) patients with cyclosporine A (CsA) immunosuppressant therapy were studied. Seven KTx patients were lean and ...
The contributions of hepatic glycogenolysis to fasting glucose production and direct pathway to hepatic glycogen synthesis were quantified in eight type 1 diabetic patients and nine healthy control subjects by ingestion of (2)H(2)O and acetaminophen before breakfast followed by analysis of urinary water and acetaminophen glucuronide. After overnight fasting, enrichment of glucuronide position 5 relative to body...
Friedreich'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, dysarth...
OBJECTIVE: The Pediatric Portuguese Society of Endocrinology and Diabetology established in 2001 a Study Group with the aim of investigate glycemic control, prevalence of microvascular complications and modalities of treatments in type1 diabetic patients. PATIENTS AND METHODS: The cases for registration were those who were born between June 1, 1979 and June 1, 2001 (until 22 yr of age). A front sheet was constr...
We review the pathophysiology, clinical features and therapy of acute thyroiditis. Four cases are reported stressing the role of fine needle aspiration for the diagnosis of this clinical entity.
The authors have elaborated a statistic survey about the pregnant women with endocrinopathies, that they have examined in the outpatient clinic from January of 1980 to December of 1988. Three hundred and twenty four women were examined in an amount of 2152 (two thousand one hundred and fifty two) observations. The incidence for 100 births was 0.54%. Maternal and fetal mobility and mortality were analysed in cor...
With near optimal metabolic control, in diabetes mellitus, hypoglycaemia has become a very important problem. Its main causes are excessive insulin or sulfonylurea dosages, omission of meals, unprogrammed physical exercise or disturbances of the neurohormonal counterregulatory mechanisms. ; With near optimal metabolic control, in diabetes mellitus, hypoglycaemia has become a very important problem. Its main ca...
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