J3-4116 — Final report
1.
Paediatric screening for hypercholesterolaemia in Europe

Different screening strategies are currently recommended to identify children with (familial) hypercholesterolaemia in order to initiate early lipid management. However, these strategies are characterised to date by low adherence by the medical community and limited compliance by parents and children. In a literature review, the authors assess which children should undergo screening and which children are in effect identified through the currently recommended strategies. Furthermore, the authors discuss the different screening tools and strategies currently used in Europe and what is known about the negative aspects of screening. The authors conclude that currently recommended selective screening strategies, which are mainly based on family history, lack precision and that a large percentage of affected children who are at increased risk of future coronary artery disease are not being identified. The authors propose universal screening of children between 1 and 9 years of age, a strategy likely to be most effective in terms of sensitivity and specificity for the identification of children with familial hypercholesterolaemia. However, this concept has yet to be proven in clinical practice.

COBISS.SI-ID: 29621977
2.
Nocturnal glucose control with an artificial pancreas at a diabetes camp

BackgroundRecent studies have shown that an artificial-pancreas system can improve glucosecontrol and reduce nocturnal hypoglycemia. However, it is not known whether suchresults can be replicated in settings outside the hospital.MethodsIn this multicenter, multinational, randomized, crossover trial, we assessed the shorttermsafety and efficacy of an artificial pancreas system for control of nocturnalglucose levels in patients (10 to 18 years of age) with type 1 diabetes at a diabetescamp. In two consecutive overnight sessions, we randomly assigned 56 patients to receivetreatment with an artificial pancreas on the first night and a sensor-augmentedinsulin pump (control) on the second night or to the reverse order of therapies on thefirst and second nights. Thus, all the patients received each treatment in a randomlyassigned order. The primary end points were the number of hypoglycemic events(defined as a sensor glucose value of (63 mg per deciliter [3.5 mmol per liter] forat least 10 consecutive minutes), the time spent with glucose levels below 60 mgper deciliter (3.3 mmol per liter), and the mean overnight glucose level for individualpatients.ResultsOn nights when the artificial pancreas was used, versus nights when the sensoraugmentedinsulin pump was used, there were significantly fewer episodes ofnighttime glucose levels below 63 mg per deciliter (7 vs. 22) and significantlyshorter periods when glucose levels were below 60 mg per deciliter (P = 0.003 andP = 0.02, respectively, after adjustment for multiplicity). Median values for the individualmean overnight glucose levels were 126.4 mg per deciliter (interquartilerange, 115.7 to 139.1 [7.0 mmol per liter; interquartile range, 6.4 to 7.7]) with theartificial pancreas and 140.4 mg per deciliter (interquartile range, 105.7 to 167.4[7.8 mmol per liter; interquartile range, 5.9 to 9.3]) with the sensor-augmentedpump. No serious adverse events were reported.ConclusionsPatients at a diabetes camp who were treated with an artificial-pancreas systemhad less nocturnal hypoglycemia and tighter glucose control than when theywere treated with a sensor-augmented insulin pump.

COBISS.SI-ID: 1271980
3.
Decreased prevalence of hypercholesterolaemia and stabilisation of obesity trends in 5-year-old children

Background: Overweight/obesity in children is a worldwide public health problem. Together with hypercholesterolaemia they are associated with early atherosclerotic complications. Objectives: In this study, we aimed to investigate the anthropometric characteristics and total cholesterol (TC) levels in a population of 5-year-old children, to determine trends in the prevalence of overweight/obesity and hypercholesterolaemia in 5-year-old children over a period of 8 years (2001-2009) and to assess the impact of modified national nutritional guidelines for kindergartens implemented in 2005. Design: Cross-sectional studies of overweight/obesity prevalence in the years 2001, 2003-2005 and 2009, and hypercholesterolaemia in years 2001 and 2009, in 5-year-old children. Subjects: Altogether, 12832 (6308 girls/6524 boys) children were included. Methods: Overweight/obesity was defined by IOTF criteria. Hypercholesterolaemia was defined by TC level )5mmol/l. Multivariable logistic regression models were used. Results: no correlation between BMI values and TC levels was found. overweight and obesity prevalence were stabilised from 2001 to 2009 (ODDS ratio (OR) (95% CI): 1.13 (0.99-1.3) and 1.13 (0.89-1.42) respectively). Girls were more frequently overweight/obese than boys (OR (95% CI): 0.71 (0.65-0.79) and 0.75 (0.64-0.89) respectively). Prevalence of hypercholesterolaemia significantly decreased from 2001 to 2009 (OR (95% CI): 0.47 (0.41-0.55)). It was less frequent in boys than in girls (OR (95% CI): O.7 (0.61-0.8)). Conclusions:This is the first study to describe a negative trend in the prevalence of hypercholesterolaemia in pre-pubertal children. In addition, the prevalence of overweight/obesity in these children has been stabilised. Nationwide changes in public health policies could have influenced these observations.

COBISS.SI-ID: 31060697
4.
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. The primary challenges were identified. Implementation of NBS to developing countries worldwide should be considered as a priority.

COBISS.SI-ID: 1727404
5.
Bridging genomics research between developed and developing countries

The Genomic Medicine Alliance is a global academic research network that aims to establish and strengthen collaborative ties between the various genomic medicine stakeholders. Its focus lies on the translation of scientific research findings into clinical practice. It brings together experts from disciplines including genome informatics, pharmacogenomics, public health genomics, ethics in genomics and health economics, and it is supervised by a 14-member International Scientific Advisory Committee comprising internationally renowned scientists. The Alliance's official journal, Public Health Genomics, offers members a highly respected publication forum for their original research findings. In the short-to-medium term, the Genomic Medicine Alliance hopes to harmonize research activities between developed and developing countries and to organize educational activities in the field of genomic medicine.

COBISS.SI-ID: 31771097