Abstract Background Individuals with familial hypercholesterolemia (FH) who are untreated have up to 100-fold elevated risk for cardiovascular complications compared with those who are unaffected. ...Data for identification of FH with a universal screening for hypercholesterolemia in children are lacking. Objectives This study sought genetic identification of FH from a cohort of children with elevated serum total cholesterol (TC) concentration, detected in a national universal screening for hypercholesterolemia. Methods Slovenian children born between 1989 and 2009 (n = 272) with TC >6 mmol/l (231.7 mg/dl) or >5 mmol/l (193.1 mg/dl) plus a family history positive for premature cardiovascular complications, identified in a national universal screening for hypercholesterolemia at 5 years of age were genotyped for variants in LDLR , PCSK9 , APOB , and APOE. Results Of the referred children, 57.0% carried disease-causing variants for FH: 38.6% in LDLR , 18.4% in APOB , and none in PCSK9 . Nine novel disease-causing variants were identified, 8 in LDLR , and 1 in APOB . Of the remaining participants, 43.6% carried the APOE E4 isoform. Estimated detection rate of FH in the universal screening program from 2009 to 2013 was 53.6% (95% confidence interval CI: 34.5% to 72.8%), peaking in 2013 with an upper estimated detection rate of 96.3%. Variants in LDLR , APOB , or the APOE E4 isoform occurred in 48.6%, 60.0%, and 76.5%, respectively, of patients with a family history negative for cardiovascular complications. Conclusions Most participants who were referred from a national database of universal screening results for hypercholesterolemia had genetically confirmed FH. Data for family history may not suffice for reliable identification of patients through selective and cascade screening.
This study explored the association between parental fear of hypoglycemia, anxiety, and subjective well-being in parents of children and adolescents with type 1 diabetes. A total of 120 mothers and ...79 fathers participated. Mothers’ and fathers’ fear of hypoglycemia was significantly associated with anxiety and negative affect as well as with worse glycemic control in child. Paired-samples t-test showed that mothers were more involved in diabetes management and reported more fear and anxiety compared to fathers, but they did not differ in worries about hypoglycemia. The findings suggest screening for fear of hypoglycemia and subjective well-being in all parents regardless of whether their child experienced severe hypoglycemia.
Purpose
To determine the impact of advanced hybrid closed - loop (AHCL) insulin delivery on quality of life, metabolic control and time in range (TIR) in youth with type 1 diabetes mellitus (T1DM).
...Methods
Twenty-four children and adolescents with T1DM (14 female) aged of 10 to 18 years participated in the study. Mixed methods study design was implemented. Quantitative part of the study was conducted as a longitudinal crossover study with data collection before and at the end of AHCL use. Qualitative data were obtained with modeled interviews of four focus groups before and the end of the period. Clinical data were collected from the electronic medical records.
Results
The use of AHCL significantly improved the quality of life in terms of decreased fear of hypoglycemia (p<0.001), decrease in diabetes-related emotional distress (p<0.001), and increased wellbeing (p=0.003). The mean A1C decreased from 8.55 ± 1.34% (69.9 ± 12.3 mmol/mol) to 7.73 ± 0.42 (61.1 ± 2.2 mmol/mol) (p=0.002) at the end of the study. Mean TIR was 68.22% (± 13.89) before and 78.26 (± 6.29) % (p<0.001) at the end of the study.
Conclusion
The use of advanced hybrid closed loop significantly improved the quality of life and metabolic control in children and adolescents with T1DM.
To investigate the effect of acute hyperglycemia on brain function in adolescents with type 1 diabetes (T1D).
Twenty participants with T1D (aged 14.64 ± 1.78 years) and 20 age-matched healthy control ...subjects (aged 14.40 ± 2.82 years) performed two functional MRI sessions. Participants with T1D performed the first scanning session under euglycemic and the second under hyperglycemic clamp (20 mmol/L 360 mg/dL).
Lower spatial working memory (sWM) capacity during acute hyperglycemia and significant differences in activation of regions of interest during different stages of the sWM task (
= 0.014) were observed.
Acute hyperglycemia negatively affected sWM capacity in adolescents with T1D, which is relevant for daily functioning and academic performance.
In cities, public green open spaces offer residents a potentially better quality of life. The behavioural patterns by which people experience and use these spaces is therefore a valuable source of ...information for spatial planning. Indeed, studying how these spaces are used has also shown a significant difference between the intentions of planners and users. Only the frequency of visits to these public green spaces ultimately testifies to their appropriate and successful planning. Based on empirical research conducted in a residential area of Ljubljana, this article addresses the significance and methods of obtaining information on the experience and use of urban open spaces by residents of that neighbourhood. The article identifies factors (that could also be used by planners) that significantly impact satisfaction levels among the intended users of the neighbourhood. The focus group method and socio spatial schema method were used, based on the assumption that a multi method approach provides more accurate and reliable information that is verifiable, and therefore more useful in developing planning policies. According to the research findings, residents perceive their “neighbourhood” to be the area around their home in which they know each other and socialise with neighbours. The factors that trigger a sense of satisfaction with their neighbourhood are well maintained green areas in the vicinity of their home, parks with trees that provide spaces for a variety of activities, tree lined streets, green areas connected into a system, the opportunity to use these areas for recreation and sports, and street furniture for rest or play. The spatial elements that hinder the use of such open spaces are, in particular, busy streets, unprotected pedestrian crossings, large garage areas and car parking.
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