Studies like the DCCT and the UKPDS showed that prevention of Type 1 diabetes mellitus complications can be obtained if glucose level is maintained as close as possible to normal. Consequently management of diabetes has significantly changed in the last two decades since the aim of maintaining a good metabolic control has been pursued through intensive insulin therapy and self-monitoring blood glucose (SMBG). However, although SMBG is extremely helpful in preventing and treating hypoglycaemia and ketoacidosis, its role in maintaining a good metabolic control is controversial. Both the American Diabetes Association and the International Society for Paediatric and Adolescent Diabetes recommend the use of SMBG to maintain specific glycaemic levels but suggest that this is possible only if the patient achieves good skills in interpreting self-monitored data and consequently in self-adjusting insulin therapy and modifying eating and activity. Few studies have addressed this question and almost no data is available on SMBG and metabolic control in children with T1DM. However it can be stated that SMBG, although considered a cornerstone in diabetes care, is a necessary but not sufficient tool for the patient to achieve self-management and that only self-management leads to a good metabolic control. Paediatric diabetologists have a crucial role in providing long-term, continuative education in the use of SMBG and in self-management of diabetes.

Adolescent↗

PubMed2004

Re: Variable phenotype in Gerstmann-Sträussler-Scheinker disease.

Explore the source record for details and available documents.

Genetic Variation↗

PubMed2003

Reproductive risk factors in unilateral and bilateral renal agenesis.

Renal agenesis (RA) appears to be a multifactorial condition with combined genetic and environmental influences. We performed a retrospective case-control study of reproductive history of 26 isolated RA live births cases referred to Sicilian Registry of Congenital Malformations. A statistical significant association for birth weight if we considered all RA together and for bilateral RA alone, an increasing risk for maternal age only in the bilateral RA subgroup and a male predominance both for unilateral and bilateral RA was found. Our results show that some reproductive risk factors may be associated with RA, moreover differences found between subgroups indicate that some risk factors may be different in unilateral and bilateral RA. The association between reproductive risk factors and RA may reflect pathogenetic interaction between genetic and environmental factors. Nevertheless further studies are needed to clarify these associations and to explore the role of perinatal factors in the etiology of renal agenesis. In fact if prenatal or perinatal risk factors are in a causal chain influencing the risk for developing RA, then these data could have important implications in the prevention or treatment of this condition.

Adult↗

PubMedDate not supplied

Gerstmann-Sträussler-Scheinker disease with P102L-V129 mutation: a case with psychiatric manifestations at onset.

Gerstmann-Sträussler-Scheinker disease (GSS) is an adult onset, rare, genetically determined autosomal dominant prion disease. Clinically, it is characterized predominantly by slowly progressive spino-cerebellar dysfunction with ataxia, absent reflexes in the legs and cognitive impairment. Onset is usually in the fifth decade and in the early phase, ataxia is predominant. Mutations in the prion protein gene (PRNP) had been identified and the most important of these is at codon 129. A genotype-phenotype relationship with genetic polymorphism at residue 129 between methionine and valine has been supposed. We describe a patient with GSS and P102L-V129 mutation in which the onset with prominent psychiatric features characterized by apathy and depression and not with cerebellar sign and the clinical course with seizures, nor observed in P102L-V129 cases, allow us to confirm observations that the GSS caused by the 102 mutation is influenced by the codon 129 polymorphism with a specific genotype-phenotype influence, but probably other additional factors might be considered as background for phenotypic variability.

Adult↗