Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia.

Introduction: Autoimmune polyglandular syndrome type 1 (APS-1) is an autosomal recessive disorder, caused by mutations in the AIRE gene. The major components of APS-1 are chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison's disease (AD). Clinical, genetic and immunological characteristics of Slovenian paediatric APS-1 patients were investigated.

Annual Psychological Screening in Youth and Young Adults with Type 1 Diabetes.

Aim: Youth and young adults with type 1 diabetes are at a great risk for developing depression and diabetes specific distress, therefore, systematic psychological screening is recommended. Routine psychological screening was implemented in Slovene diabetes clinic for children, adolescents and young adults in 2012. One-year results are presented.

Cytogenetic and Molecular Genetic Characterization of Children with Short Stature.

Background: The deficiency of SHOX gene (short stature homeobox-containing gene) has been recognized as the most frequent monogenetic cause of short stature. SHOX gene has been associated with short stature in Turner syndrome and Leri Weill dyschondrosteosis as well with non-syndromic idiopathic short stature. The aim of this study was to determine the frequency of SHOX deletions and mutations in a cohort of Slovenian children with short stature, and to delineate indications for routine SHOX gene mutation screening.

Newborn Screening in Slovenia.

Introduction: Newborn screening in whole Slovenia started in 1979 with screening for phenylketonuria (PKU). Congenital hypothyroidism (CH) was added into the programme in 1981. The aim of this study was to analyse the data of neonatal screening in Slovenia from 1993 to 2012 for PKU, and from 1991 to 2012 for CH.

Support Group for Parents Coping with Children with Type 1 Diabetes.

Objectives: Type 1 diabetes is one of the most common chronic diseases in childhood. Active parental involvement, parental support in the diabetes management and family functioning are associated with optimal diabetes management and glycemic control. The purpose of this study was to assess parental satisfaction with participation in the group and their perceptions of the impact of the intervention on living and coping with childrens T1D.

Association of Average Telomere Length with Body-Mass Index and Vitamin D Status in Juvenile Population with Type 1 Diabetes.

Background: Type 1 diabetes (T1D) is an autoimmune chronic disease where hyperglycemia, increased risk of oxidative stress, advanced glycation end-products and other genetic and environmental factors lead to T1D complications. Shorter telomeres are associated with hyperglycemic levels and lower serum vitamin D levels.

Methods: Average telomere length (ATL) in whole blood DNA samples was assessed with qPCR method in 53 Slovenian T1D children/adolescents (median age 8.

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features.

Introduction: Developmental delay and dysmorphic features affect 1 - 3 % of paediatric population. In the last few years molecular cytogenetic high resolution techniques (comparative genomic hybridization arrays and single-nucleotide polymorphism arrays) have been proven to be a first-tier choice for clinical diagnostics of developmental delay and dysmorphic features.

Methods And Results: In the present article we describe the clinical advantages of molecular cytogenetic approach (comparative genomic hybridization arrays and single nucleotide polymorphism arrays) in the diagnostic procedure of two children with developmental delay, dysmorphic features and additional morphological phenotypes.

Fifty-Five Years of Pediatric Endocrinology and 50 Years of the Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases in Slovenia.

Paediatric endocrinology started its independent development early in the general development of this specialty, with a strong focus on research and clinical excellence. Slovenian paediatric endocrinology was an integral part of the European paediatric endocrinology from its beginnings and a founding member of the first 'International Study Group for Diabetes in Children and Adolescents'. After the pioneering work of Prof.

Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.

Background: We aimed to assess the current state of PKU screening and management in the region of southeastern Europe.

Methods: A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Slovenia). The questionnaire was designed to assess the characteristics regarding PKU management in three main areas: nation-wide characteristics, PKU screening, and characteristics of the PKU management in the responding centre.

Continuous subcutaneous insulin infusion in diabetes: patient populations, safety, efficacy, and pharmacoeconomics.

The level of glycaemic control necessary to achieve optimal short-term and long-term outcomes in subjects with type 1 diabetes mellitus (T1DM) typically requires intensified insulin therapy using multiple daily injections or continuous subcutaneous insulin infusion. For continuous subcutaneous insulin infusion, the insulins of choice are the rapid-acting insulin analogues, insulin aspart, insulin lispro and insulin glulisine. The advantages of continuous subcutaneous insulin infusion over multiple daily injections in adult and paediatric populations with T1DM include superior glycaemic control, lower insulin requirements and better health-related quality of life/patient satisfaction.

A new horizon for glucose monitoring.

Regular self-monitoring of blood glucose is crucial for proper insulin dosing and gives a reliable foundation for reasonable glycaemic control. According to recent data, recommended values for glycated haemoglobin A1c as set by the professional associations remain out of the reach for a large proportion of the paediatric population. In the last decades, the treatment of type 1 diabetes has changed significantly as new devices gain a role in routine clinical care.

Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population.

Background: Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although each of these diseases is quite rare, as a group they account for a significant proportion of newborn and childhood morbidity and mortality. Early diagnosis is important to prevent complications or even death of the child.

Genetic risk for co-occurrence of type 1 diabetes and celiac disease is modified by HLA-C and killer immunoglobulin-like receptors.

The prevalence of celiac disease (CD) in patients with type 1 diabetes (T1D) has been reported to be 5-7 times higher than in the general population. Risk factors for co-occurrence of both diseases have not been entirely established. The aim of our study was to analyze possible impact of human leukocyte antigen (HLA) class I and killer cell immunoglobulin-like receptors (KIRs) on the co-occurrence of T1D and CD.

Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring--implications for clinical management of patients with hyperphenylalaninemia.

Objectives: Regular and accurate monitoring of blood phenylalanine (Phe) and tyrosine (Tyr) levels is prerequisite for a successful management of patients with hyperphenylalaninemia (HPA). We aimed to compare the tandem mass spectrometry (MS/MS) and the amino acid analyzer (AAA) as methods to measure blood Phe and Tyr levels and Phe/Tyr ratio.

Methods: Venous blood samples were collected for the AAA analysis, using Pinnacle PCX (Pickering Laboratories), with HPLC Series 1200 (Agilent).

Newborn screening in southeastern Europe.

The aim of our study was to assess the current state of newborn screening (NBS) in the region of southeastern Europe, as an example of a developing region, focusing also on future plans. Responses were obtained from 11 countries. Phenylketonuria screening was not introduced in four of 11 countries, while congenital hypothyroidism screening was not introduced in three of them; extended NBS programs were non-existent.

Fifty years of phenylketonuria newborn screening - A great success for many, but what about the rest?

Guthrie's landmark discovery and the subsequent implementation of the first newborn screening programs for phenylketonuria (PKU) and other inherited errors of metabolism (IEM) could be - in a 50 year retrospective - easily considered among the greatest advances in medicine. They have not just improved the quality of hundreds of thousands of lives, but also transformed our understanding and approach to PKU and IEM in general. However, according to the available albeit very scarce data, many countries and regions seem not to share the benefits of the last 50 years of development.

MD-Logic overnight control for 6 weeks of home use in patients with type 1 diabetes: randomized crossover trial.

Objective: We evaluated the effect of the MD-Logic system on overnight glycemic control at patients' homes.

Research Design And Methods: Twenty-four patients (aged 12-43 years; average A1c 7.5 ± 0.

Impact of continuous glucose monitoring on quality of life, treatment satisfaction, and use of medical care resources: analyses from the SWITCH study.

To investigate the impact of continuous glucose monitoring (CGM) on health-related quality of life (HRQOL), treatment satisfaction (TS) medical resource use, and indirect costs in the SWITCH study. SWITCH was a multicentre, randomized, crossover study. Patients with type 1 diabetes (n = 153) using continuous subcutaneous insulin infusion (CSII) were randomized to a 12 month sensor-On/Off or sensor-Off/On sequence (6 months each treatment), with a 4-month washout between periods.

Liraglutide's safety, tolerability, pharmacokinetics, and pharmacodynamics in pediatric type 2 diabetes: a randomized, double-blind, placebo-controlled trial.

Background: The prevalence of type 2 diabetes (T2D) in youth is increasing. Treatment options beyond metformin and insulin are needed. The safety, tolerability, pharmacokinetics, and pharmacodynamics of liraglutide once daily in youth (10-17 years old) with T2D were investigated in a randomized, double-blind, placebo-controlled trial.

The role of self-monitoring of blood glucose in patients treated with SGLT-2 inhibitors: a European expert recommendation.

The role for the novel treatment approach of sodium-glucose cotransporter-2 (SGLT-2) in type 2 diabetes is increasing. Structured self-monitoring of blood glucose (SMBG), based on a less intensive and a more intensive scheme, may contribute to an optimization of SGLT-2 inhibitor based treatment. The current expert recommendation suggests individualized approaches of SMBG, using simple and clinically applicable schemes.

Weak association of glyoxalase 1 (GLO1) variants with autism spectrum disorder.

The prevalence of the autism spectrum disorder (ASD) was recently estimated to 1 in 88 children by the CDC MMWR. In up to 25 % of the cases, the genetic cause can be identified. Past studies identified increased level of advanced glycation end products (AGE) in the brain samples of ASD patients.