Tadej Battelino

..The potential of RT-CGM of reducing hypoglycemia in well-controlled individuals with T1DM is anticipated but remains to be confirmed. The current high cost of this technology may limit clinical experience in routine clinical settings...

..To assess the impact of continuous glucose monitoring on hypoglycemia in people with type 1 diabetes...

..The aim of this multicentre, randomised, controlled crossover study was to determine the efficacy of adding continuous glucose monitoring (CGM) to insulin pump therapy (CSII) in type 1 diabetes...

..With the development of continuous glucose sensing coupled with an insulin pump, patients can hope for an ever-increasing technological support for the management of insulin therapy in the foreseeable future...

..It is suggested that there may be a combined influence of the QBP5.12 promoter and the DQB1*0501 functional molecule on reduced IAA production...

..027 and 0.014 per patient-year, respectively. Routine use of CSII in children and adolescents with T1D is effective in improving metabolic control and associated with a very low incidence of ketoacidosis or severe hypoglycemia...

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..Several nutritional interventions are proposed to reduce total salt intake while ensuring adequate iodine intake...

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..To analyze a healthy Slovenian population for the frequency of the classical galactosemia allele K285N...

..Autoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis...

..We investigated polymorphic markers in genes encoding enzymes regulating production of reactive oxygen species in association with diabetic retinopathy or diabetic nephropathy...

..The penetrance of the novel mutation was shown to be incomplete. Functional importance of the mutation was assumed from the protein p16 structure...

..Among 107 families, 58 were classified as classic PKU (54.2%), 28 as mild PKU (25.9%) and 21 as MHP (19.6%). Twenty-six different genotypes (40.6%) were predicted to be BH(4)-responsive, represented by 38 different families (35.5%)...

..73.3% of genotypes containing at least one allele with a PRA of at least 30% were found to be BH(4) responsive; a PRA of at least 15.5% was needed for the responder genotype in our population...

..A structured educational program should be provided for preschools, kindergartens and primary schools that includes information about and practical training for the use of these new diabetes-related technologies...

..No association of the mutations with POF was found...

..8344delG mutation. As an OB requires appropriate timing of therapy, it is important to diagnose these patients as early as possible...

..To prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian cutaneous malignant melanoma (CMM) families...

..Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease associated with mutations in the AIRE gene...

..Patients typically present with moderately to severely reduced visual acuity, nystagmus, strabismus, photophobia, iris translucency, hypopigmentation of the retina, foveal hypoplasia and misrouting of optic nerve fibers at the chiasm...

..The aim of this study was to identify TPO gene defects in a cohort of patients with thyroid dyshormonogenesis from Slovenia, Bosnia, and Slovakia...

..Urinary AQP2 excretion correlated well with other tested phenotype markers. Urinary AQP2 excretion could be used to evaluate the remaining in vivo integrity of the AVP-V2 receptor-AQP2 cascade in patients with CNDI...

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..This study aimed to investigate the association of endothelial nitric oxide synthase (eNOS) polymorphisms with impaired endothelium-dependent dilatation (EDD) in a cohort of children and adolescents with type 1 diabetes...

..AI is associated with different mutations in four genes: enamelin (ENAM), amelogenin (AMGX), kallikrein (KLK4) and enamelysin (MMP-20). Seven different mutations have been identified in the enamelin gene (ENAM)...

..Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar keratoderma together with a severe form of generalized aggressive periodontitis and associated with mutations in cathepsin C gene (CTSC)...

..9%). The objective of this study was to evaluate iodine intake, the prevalence of marginal, low and excessive intake (<50, 50-100 and >or=300 microg/day), as well as the main sources of iodine in the diet of Slovenian adolescents...

..Allele frequencies for Q188R and N314D mutations and IVS5-24G>A intron variation were found to be 0.29%, 8.0% and 5.7%, respectively. These results correlate well with those reported for most other healthy Caucasian populations...

..Predicting the phenotype on the basis of mutations is unreliable especially if mutations are localised in alternatively spliced exons of the G4.5 (TAZ) gene which may result in a milder clinical presentation than expected...

..00026). CONCLUSIONS/INTERPRETATION: Although the incidence rate in Slovenia slightly increased during the period 1990-1998, the incidence rate in the Tuzla region remained at the pre-war level...

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..To analyse the mutational spectrum, the associated haplotypes and the genotype-phenotype correlation, and to design a reliable and rational approach for CYP21 mutation detection in Slovenian congenital adrenal hyperplasia (CAH) patients...

..In patients with a mild form of the disease and no detectable mutation CYP21 gene polymorphisms should be considered as a plausible disease-causing mutation...

..We conclude that low blood glucose was significantly correlated with an increase in motor activity as detected by actigraphy. This implies the possibility of noninvasive screening of asymptomatic nocturnal hypoglycemia...

..5% of all subjects. CONCLUSIONS: Slovenian adolescents are iodine sufficient and the prevalence of goiter is low, indicating that increased KI supplementation of salt in 1999 was successful...

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..This subgroup analysis investigated the initiation of once-daily glargine therapy in patients suboptimally controlled on multiple OADs...

..05). Female cases also had a lower body mass index than female controls (P = 0.067). CONCLUSION: In a cohort of diabetic children, silent celiac disease had no obvious effect on metabolic control but negatively influenced weight gain...

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..The management of diabetes in preschool children poses unique difficulties for both the families and the medical team...

..Aim of this trial was to test whether heat shock protein peptide DiaPep277 treatment in adult and paediatric patients with recent-onset type 1 diabetes (T1D) is safe and whether it can preserve endogenous insulin production...

..Our results argue that the breakdown of tolerance to IFNs in AIRE deficiency is associated with impaired responses to them in thymus, and highlight APECED as another autoimmune disease with associated dysregulation of IFN activity...

..The Type 1 Diabetes TrialNet Research Group and the European C-peptide Trial (ECPT) Study Group conducted parallel randomized studies to compare the sensitivity, reproducibility, and tolerability of these procedures...