The associations between some biological markers, obesity, and cardiovascular risk in Slovenian children and adolescents.

INTRODUCTION: The occurrence of cardiovascular diseases and metabolic disorders steadily increases with the body mass index (BMI). Since the latter is not the best and earliest indicator of obesity and cardiovascular risk, the aim of the study was to evaluate some potential biological markers that would allow us to detect children and adolescents at higher risk at an early stage. METHODS: A sample of 330 children and adolescents were included in the study and divided into four groups: obese patients with hypertension, normal-weight patients with hypertension, patients with mildly elevated lipids and a control group of healthy children and adolescents. Some clinical parameters (age, body weight, body height, BMI, waist circumference, hip circumference, blood pressure), biochemical parameters (glucose, total cholesterol, triglycerides, HDL, LDL, apolipoprotein A1, homocysteine) and biological markers of obesity (ghrelin, adiponectin, leptin) were evaluated. RESULTS: Ghrelin and adiponectin were found to have a strong negative statistically significant correlation with BMI in all three observed groups (p < 0.001), but not in the control group (p = 0.053 and p = 0.316, respectively). In addition, leptin had a strong positive statistically significant correlation with BMI in all four groups (p < 0.001 for the research groups, p = 0.009 for the controls). In the group of obese patients with hypertension, statistically significant differences in all three markers of obesity were found in comparison to the control group (p < 0.001 for all markers). In the group of patients with mildly elevated lipids, ghrelin and leptin were significantly different (p = 0.002 and p < 0.001, respectively). In the group of normal-weight hypertensive patients, only values of ghrelin were different compared to the control group (p = 0.001). CONCLUSION: In the research groups, significant differences were found in clinical, biochemical and biological parameters compared to the control group. The observed biological markers of obesity are useful early markers for identifying groups of patients that are at cardiovascular risk.

Vitamin D in pediatric patients with obesity and arterial hypertension.

The purpose of this study was to find potential differences in vitamin D levels between different groups: overweight children with hypertension, normal-weight children with hypertension, overweight children with normal blood pressure and normal-weight children without hypertension, representing the control group. We also wanted to determine whether there are correlations between vitamin D levels and other clinical laboratory parameters, to evaluate the potential need for substitution. We measured vitamin D, homocysteine, total cholesterol, HDL, LDL, triglycerides, uric acid, glucose, apolipoprotein A1, apolipoprotein B, alkaline phosphatase, calcium, phosphate and magnesium serum levels in all groups. We also took anthropometric measurements (body weight, height, body mass index (BMI)) and observed patients' blood pressure. The results were analyzed with SPSS statistic tool with basic statistical methods. The study included 175 children between 5 and 18 years of age. Fiftyseven were healthy (group A-control group), 41 normal-weight with hypertension (group B), 44 overweight with hypertension (group C) and 33 overweight with normal blood pressure (group D). The results showed statistically significant differences in values of vitamin D between all groups-A and B (p = 0.003), A and C (p < 0.001), A and D (p < 0.001), B and D (p = 0.043), B and C (0.030), except for groups C and D (p = 0.830). There were statistically significant correlations between vitamin D and BMI (r = - 0.196, p = 0.010), systolic pressure (r = - 0.190, p = 0.002), diastolic pressure (r = - 0.149, p = 0.050), homocysteine (r = - 0.208, p = 0.007), triglycerides (r = - 0.196, p = 0.011) and apolipoprotein A1 (r = 0.222, p = 0.007), confirmed in multivariate model. For the blood pressure, the higher the systolic blood pressure, the lower the average vitamin D was. The pilot study shows significant differences in serum vitamin D levels between all groups of children, apart from groups C and D. These results, combined with statistically significant correlations between vitamin D and systolic and diastolic blood pressure suggest the need for monitoring and potential substitution of vitamin D in in pediatric patients with hypertension.

Self-reported adherence behavior in adolescent hypertensive patients: the role of illness representations and personality.

OBJECTIVE: This exploratory study examined the role that illness representations and personality play in the various adherence behaviors of adolescents diagnosed with essential hypertension. METHODS: The participants were 97 hypertensive adolescents. They completed self-report questionnaires pertaining to (1) demographic and medical data, (2) adherence, (3) illness representations, and (4) personality. Medical charts were also assessed. RESULTS: The hierarchical regression analyses indicated that: (1) conscientiousness, agreeableness, and perception of treatment effectiveness account for a significant amount of variance in general adherence; (2) perception of treatment effectiveness is predictive of overall specific adherence; and (3) for adherence to most of the individual specific regimen recommendations, illness representations are more predictive compared to personality dimensions. CONCLUSIONS: The personality domains of conscientiousness, extraversion, agreeableness, and illness representation dimensions (treatment control, concern, and emotional burden) were shown to predict adherence behaviors in adolescent hypertensive patients differentially. Study implications and limitations are discussed.

Arterial Compliance Measurement in Overweight and Hypertensive Children.

OBJECTIVES: To investigate the pulse wave velocity (PWV) and augmentation index (Alx), measures of arterial stiffness, in relation to hypertension and obesity, the main risk factors for cardiovascular diseases. METHODS: Two groups of pediatric patients, 31 children and adolescents with hypertension and 85 with overweight, were analysed and compared to the control group (50 healthy individuals). Subjects were sampled by opportunity sampling at the Department of Pediatrics, Maribor. In each patient, blood pressure, anthropometrical parameters and PWV measurements using the applanation tonometry technique were performed. RESULTS: There was a significant correlation between PWV and age (r = 0.461, p = 0.001) in the control group, whereas no correlation was obtained between PWV and body mass index (BMI) or central mean arterial pressure (CMAP). In the hypertensive group, PWV only correlated with CMAP (r = 0.496, p = 0.005). A significant correlation was found in the overweight group between PWV and both age and BMI (r = 0.484, p < 0.001 and r = 0.347, p = 0.001, respectively). Alx results were not taken into consideration. CONCLUSIONS: The results of this pilot study show that overweight and hypertensive children and adolescents are associated with less compliant arteries than their healthy peers, which could be used for screening of patients with expected early cardiovascular risk.

Angiotensin-converting enzyme gene polymorphism as a cardiovascular risk factor in children.

A family history of cardiovascular disease predicts cardiovascular risk in the next generation, which is either the result of inherited traits or certain living habits in some families. The aim of our study was to evaluate both variables and particularly the role of one of the possible genetic risk factors - angiotensin-converting enzyme (ACE) gene polymorphism. History and anthropometric and biochemical parameters, ACE gene polymorphism and carotid wall thickness - intima media thickness (IMT) were studied in two groups of children: in children whose parents had a stroke before the age of 45 years and in children without a positive family history. The preliminary results of the present study failed to confirm our hypothesis that ACE gene polymorphism is a cardiovascular risk factor in children of parents with premature stroke.

Metabolic syndrome in the pediatric population: a short overview.

The metabolic syndrome (MS) in adults is defined as a concurrence of obesity, disturbed glucose and insulin metabolism, hypertension and dyslipidemia, and is associated with increased morbidity and mortality from cardiovascular diseases and type 2 diabetes. Studies now indicate that many of its components are also present in children and adolescents. Moreover, the clustering of these risk factors has been documented in some children, who are at increased cardiovascular risk in adulthood. The MS is highly prevalent among overweight children and adolescents. Identifying these children is important for early prevention and treatment of different components of the syndrome. The first-line treatment comprises lifestyle modification consisting of diet and exercise. The most effective tool for prevention of the MS is to stop the development of childhood obesity. The first attempt at consensus-based pediatric diagnostic criteria was published in 2007 by the International Diabetes Federation. Nevertheless, national prevalence data, based on uniform pediatric definition, protocols for prevention, early recognition and effective treatment of pediatric MS are still needed.The aim of this article is to provide a short overview of the diagnosis and treatment options of childhood MS, as well as to present the relationships between MS and its individual components.

A diagnostic approach for the child with hypertension.

Hypertension during childhood is not rare, with an estimated prevalence of between 1% and 2%, although it is often an underrecognized clinical entity. Elevated blood pressure may be a sign of underlying disease or it may represent early onset of essential hypertension. In recent years the measurement of blood pressure has been emphasized as an important component of the routine pediatric physical examination that enables early detection of children with hypertension. In the evaluation of the child with documented blood pressure elevation, confirmation of truly and persistently elevated blood pressure is of the utmost importance. In addition, a thorough history and a full clinical examination are essential. These are followed by appropriate investigations, which are tailored to the age of the child and to the severity of the blood pressure elevation. Investigations should not only focus on a search for the underlying cause, but also on establishing effects on target organs, complications or additional diseases and on assessment of the total cardiovascular risk to the individual patient. An algorithm, which is a valuable diagnostic tool for the diagnosis and management of the child with hypertension, is presented. All children with confirmed hypertension need long-term follow-up, counseling and treatment. In those cases where an underlying cause of the hypertension is detected, the established diagnosis then determines the specific therapy and management.

Twenty-four-hour ambulatory blood pressure monitoring in infants and toddlers.

During the past several years, 24-hour (24-h) ambulatory blood pressure monitoring (ABPM) has become a useful tool for the diagnosis and management of children and adolescents with elevated blood pressure (BP). Some reports have also provided blood pressure nomograms for particular devices. However, there are very few reports of the use of this method in very young children. In our study we investigated the applicability of ABPM in 97 healthy infants and toddlers, aged from 2 to 30 months. A satisfactory ABPM profile was obtained in 86.6% of the children, with an average of 75.0% satisfactory BP recordings. The mean +/- SD systolic and diastolic BP of healthy infants and toddlers was 99+/-12/62+/-12 mmHg during the daytime and 95+/-11/57+/-10 mmHg during the night, with no gender difference being observed. The 24-h mean +/- SD systolic and diastolic BP, which may be a more appropriate measure of BP in this particular age group, was found to be 97+/-12/59+/-11 mmHg. We also confirmed the increase in systolic and diastolic BP with increased height (length). There was only a slight nocturnal decrease in BP. We conclude that this method is applicable for the assessment of blood pressure in very young children.

Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.

Hypoxanthine phosphoribosyltransferase (HPRT) deficiency is an inherited disorder. Complete deficiency of HPRT activity is phenotypically expressed as the devastating Lesch-Nyhan syndrome. Partial HPRT deficiency usually causes hyperuricemia, precocious gout, and uric acid nephrolithiasis. We describe an 18-year follow-up of a 5-year old boy with partial HPRT deficiency and report a novel mutation in his HPRT gene. He presented with overproduction of uric acid and passage of uric acid renal stones, and without gout or neurological and behavioral abnormalities. Treatment with allopurinol, adequate hydration, urinary alkalization, and a low-purine diet was started. No subsequent nephrolithiasis has occurred. After 18-year of this therapy his physical and neuropsychological status were normal, merely his glomerular filtration rate (GFR, normal 97-137 mL min(-1)/1.73 m(2)) fell from normal to 65.1 mL min(-1). The most likely cause of initial renal impairment in our patient is uric and/or xanthine crystalluria. A missense and transition mutation 169A>G (57ATG>GTG, 57met>val) in exon 3 of the patient's HPRT gene was identified and the mother was the carrier of the mutation. As far as we are aware, the identified mutation has not previously been reported. We named the mutant HPRT Maribor.

G-protein beta3 subunit gene C825T polymorphism in patients with vesico-ureteric reflux.

The C825T polymorphism in the GNB3 gene encoding a beta3 subunit from heterotrimeric G-proteins correlates strongly with the variation in activity of the G-proteins. It has so far been associated with a variety of medical conditions, but has not been tested for association with vesico-ureteric reflux (VUR). Primary VUR is a condition of genetic origin that appears to be inherited in an autosomal dominant mode, but with reduced penetrance. The constitutional change in G-protein-mediated cell signaling associated with the C825T polymorphism might be one of the factors that participate in the development of VUR by modifying the effect of still unknown mutated gene(s). A significant difference in genotype frequencies (chi(2) = 7.38, P = 0.025, df = 2) was observed between patients with primary VUR (33 CC homozygotes, 40 CT heterozygotes, 12 TT homozygotes) and healthy controls with no medical record of reflux (114 CC homozygotes, 88 CT heterozygotes, 18 TT homozygotes). This result suggests that the C825T polymorphism of the GNB3 gene might be associated with the development of VUR.

Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q.

Partial trisomy of the long arm of chromosome 10 is a well-defined but rare syndrome. Clinical features of this chromosomopathy are a distinctive dysmorphic appearance, developmental delay, growth retardation, and in some cases, abnormalities of the extremities and renal, cardiac and ocular anomalies. This report describes a neonate with symmetric growth retardation and multiple dysmorphic features, in whom chromosomal analysis revealed a partial trisomy of chromosome 10q with a monosomy of the 13q34 region. The phenotype shares many common features with previously published cases. In addition to the typical features, our case also shows renal hypoplasia with early renal insufficiency and some genital anomalies.