Background: The aim of this study was to explore the impact of ambulatory blood pressure (ABP) parameters on arterial stiffness measured by carotid–femoral pulse wave velocity (cf-PWV) in children and adolescents. Method: The study population consisted of 138 consecutive young patients (age range 4–20 years) referred to our hypertension center. Office blood pressure (BP), 24-h ABP monitoring and cf-PWV measurements were performed in all patients. Family history and smoking habits were also recorded. Results: Among the study population, 10.6% had cf-PWV values equal to or higher than the 95th percentile of the study population. cf-PWV was higher in the hypertensive compared to the normotensive patients, classified by ABP levels even after adjustment for age and sex. Significant correlations were found between cf-PWV and age, weight, height, estimated central pulse pressure (PP), office SBP and DBP, and ABP parameters including 24-h SBP and DBP, weighted 24-h SBP variability, 24-h SBP and DBP load, 24-h mean arterial pressure (MAP), daytime and night-time SBP, daytime and night-time SBP variability, but not with office and 24-h heart rate, 24-h heart rate variability, 24-h daytime and night-time PP, DBP variability, ambulatory arterial stiffeness index and BMI z-score. In analysis of covariance, only weighted 24-h SBP variability (β = 0.28, P < 0.05) and daytime SBP variability (β = 0.15, P < 0.05) were the independent determinants of cf-PWV in children and adolescents. Conclusion: These data may suggest that increased SBP variability is closely associated with arterial stiffness in children and adolescents.

Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene encoding lamins A and C, and is associated with nuclear deformation and dysfunction. Hutchinson-Gilford progeria syndrome (HGPS) was the first premature aging syndrome linked to LMNA mutation and its molecular bases have been deeply investigated. It is due to a recurrent de novo mutation leading to aberrant splicing and the production of a truncated and toxic nuclear lamin A precursor (prelamin AΔ50), also called progerin. In this work and based on the literature data, we propose to distinguish two main groups of premature aging laminopathies: (1) HGPS and HGP-like syndromes, which share clinical features due to hampered processing and intranuclear toxic accumulation of prelamin A isoforms; and (2) APS (atypical progeria syndromes), due to dominant or recessive missense mutations affecting lamins A and C. Among HGPS-like patients, several deleted prelamin A transcripts (prelamin AΔ50, AΔ35 and AΔ90) have been described. The purpose of this work was to characterize those transcripts in eight patients affected with HGP-like rare syndromes. When fibroblasts were available, the relationships between the presence and ratios of these transcripts and other parameters were studied, aiming to increase our understanding of genotype-phenotype relationships in HGPS-like patients. Altogether our results evidence that progerin accumulation is the major pathogenetic mechanism responsible for HGP-like syndromes due to mutations near the donor splice site of exon 11.

Background: Childhood dyslipidemia is an important risk factor for developing cardiovascular disease in adulthood. Our study aimed to investigate a possible correlation between nutritional, lifestyle, behavioral and socioeconomic factors and serum lipid levels in children with dyslipidemia. Methods: In this retrospective, observational study, in 31 children with dyslipidemia, aged 3–14 years, dietary habits, physical activity, hours watching television or playing video games, family’s socioeconomic status, weight of children and parents, and duration of breastfeeding were recorded. The children’s adherence to the Mediterranean diet was also evaluated by KidMed index. Statistical analysis was performed using SPSS.22. Results: Children with increased physical activity had lower triglyceride levels, compared to those with lower physical activity (p = 0.001). Children who consumed only one meal per day, had increased levels of total cholesterol (p = 0.01), LDL-cholesterol (p = 0.01), ApoB (p = 0.001) and lipoprotein (a) (p = 0.018), compared to those who consumed more than 3 meals per day (p < 0.05). Children who were breastfed less than 6 months had significantly increased LDL-C levels (p = 0.022), compared to children who were breastfed more than 6 months. All other parameters investigated did not differ significantly. Conclusions: This study showed association between lipid profile of children with dyslipidemia and specific nutritional and socioeconomic factors, such as increased physical activity, increased meals consumption during the day, and exclusive breastfeeding for more than 6 months. Nevertheless, further research is needed, in order to confirm these findings.

Kawasaki disease is an acute, febrile syndrome in infancy, characterised by vasculitis of medium-sized arteries, and affects predominantly young children. Family-based studies on Kawasaki disease supports the contribution of genetic factors in disorder manifestation. In a recent genome-wide association study, the polymorphism rs1801274 of FCGR2A [Fc fragment of immunoglobulin G, low-affinity IIa, receptor] gene has been implicated in disease pathogenesis. The aim of the present study was to explore the association of this variant, for the first time, in a group of Kawasaki-diseased patients of Greek origin. A total of 47 Kawasaki-diseased children and 50 control subjects were enrolled in the study. Polymerase chain reaction–restriction fragment length polymorphism assay was performed in rs1801274 genotyping. No association was observed between this polymorphism genotypes’ or alleles’ distribution between Kawasaki-diseased patients and controls. Furthermore, no association was revealed between this polymorphism and cardiovascular complications in Kawasaki-diseased patients. In the literature, the reported data over this polymorphism association with Kawasaki disease in Caucasian patients are contradictory. In addition, the disease shows low prevalence in the Caucasian populations. Therefore, the independent genetic association studies on rs1801274 with Kawasaki disease in various Caucasian groups increase the amount of genetic data, which could be used in a future meta-analysis, increasing the statistical power of the resultant conclusions.