Sources of hepatic glycogen synthesis following a milk-containing breakfast meal in healthy subjects.

During feeding, dietary galactose is a potential source of hepatic glycogen synthesis; but its contribution has not been measured to date. In the presence of deuterated water ((2)H(2)O), uridine diphosphate (UDP)-glucose derived from galactose is not enriched, whereas the remainder derived from glucose-6-phosphate (G6P) is enriched in position 2 to the same level as body water, assuming complete G6P-fructose-6-phosphate (F6P) exchange. Hence, the difference between UDP-glucose position 2 and body water enrichments reflects the contribution of galactose to glycogen synthesis relative to all other sources.

Lack of association of vitamin D receptor gene polymorphisms with susceptibility to type 1 diabetes mellitus in the Portuguese population.

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.

[Thyroid lymphoma].

Thyroid Lymphomas are rare tumors among thyroid neoplasms. Almost all types originate from B cells and the most frequent subtype is a diffuse large cell lymphoma. The majority arise in a background of Hashimoto's thyroiditis and patients present with a thyroid mass, rapidly enlarging and with pressure symptoms.

Noninvasive analysis of hepatic glycogen kinetics before and after breakfast with deuterated water and acetaminophen.

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 water (G5/body water) was significantly higher in type 1 diabetic patients compared with control subjects, indicating a reduced contribution of glycogenolysis to glucose production (38 +/- 3 vs. 46 +/- 2%).

[Friedreich ataxia and diabetes mellitus--family study].

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, dysarthria, scoliosis and feet deformity.

Simple measurement of gluconeogenesis by direct 2H NMR analysis of menthol glucuronide enrichment from 2H2O.

The contribution of gluconeogenesis to fasting glucose production was determined by a simple measurement of urinary menthol glucuronide (MG) 2H enrichment from 2H2O. Following ingestion of 2H2O (0.5% body water) during an overnight fast and a pharmacological dose (400 mg) of a commercial peppermint oil preparation the next morning, 364 micromol MG was quantitatively recovered from a 2-h urine collection by ether extraction and a 125 micromol portion was directly analyzed by 2H NMR.

[Glycemic control and treatments in type 1 diabetes in childhood and adolescence in Portugal].

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 constructed to record, age at diabetes diagnosis, diabetes duration, presence or absence of diabetes microvascular complications, HbA1c, number of capillary glycemic tests per week and type of insulin treatment.