A single umbilical artery (SUA) in the second trimester of pregnancy has a high association with trisomy 18, 13, 21 and other chromosomal defects, but all chromosomally abnormal fetuses had associated malformations detected by ultrasound. The absence of the left artery is more frequent than the absence of the right artery. The association with chromosomal abnormalities seems to be equal on each side.

Key words: Obesity in children/Insulin resistance/Hypertension in children/HOMA/QUICKIBackground. Obesity and arterial hypertension are a serious risk factor for insulin resistance patients leading to diabetes and other disorders. Obesity is one of the most common nutritional problems in developed countries. Actually the incidence of obesity is increasing considerably, obesity is emerging in alarming rates between the last 10 years. Obesity and hypertension beginning in childhood often precedes the hyperinsulinemic state. The metabolic syndrome is rapidly increasing in prevalence with rising childhood obesity and sedentary lifestyles worldwide. The aim of this study was to compare average levels of the homeostatic indices HOMA and QUICKI in obese children compared to healthy and hypertonic children in order to find convenient markers for insulin sensitivity in clinical pediatric practice.Methods. 49 obese children (11 girls, 38 boys), 42 children healthy (33 boys and 9 girls) and 37 hypertensive children (4 girls, 33 boys) were selected.Results. The average level of HOMA in obese children was 4.58; in healthy children 1.8 and in the group of hypertonic children the level was 2.75. The average level of QUICKI in obese children was 0.22; in healthy children 0.29 and in hypertonic children 0.28.Conclusions. The results demonstrate the possibility of insulin sensitivity assessment using these indices in pediatric practice. QUICKI has a narrower confidence interval and thus a lower variability. QUICKI an HOMA indexes are useful predominantly for epidemiological purposes, mainly for maping the scope of insulinoresistance among children.gest that the prevalence of elevated blood pressure could have increased in children over the last few decades. Obesity itself needs not always mean overweight but an accumulation of fatty tissue. In childhood, it is obvious that the continuous increase in weight is not merely caused by the increase of fat tissue but also by the development of the body frame and the muscle mass. The share of this component differs according to the individual age group and gender.Obesity. One of the most common nutritional disorder worldwide, affecting virtually both developed and developing countries of all socio-economic groups, irrespective of age, sex or ethnicity, clearly associated with the metabolic syndrome, condition with implications for the development of many chronic diseases as obesity and hypertension, type 2 diabetes mellitus, dyslipidemia, obstructive sleep apnoe, and orthopedic problems. In the Czech Republic, childhood obesity is now a serious epidemiological problem: 20% of children aged 6-12 and 11% of children aged 13-17 years are already overweight or obese. These data were provided by the study of the Czech Obesity Association entitled "Life Style and INTRODUCTION

Obesity is a serious risk factor for insulin resistance leading to diabetes and other disorders. As it is also occurring at ever younger age groups the aim of this study was to compare average levels of the homeostatic indices HOMA and QUICKI in obese compared to healthy children in an effort to find convenient markers for insulin sensitivity in clinical pediatric practice. Twenty one obese and 29 healthy children were selected. The average level of HOMA in obese children was 3,6, in healthy children 1,7 while the average level of QUICKI in obese children was 0,33 and in healthy children 0,36. The results demonstrate the possibility of insulin sensitivity assessment using these indices in pediatric practice. QUICKI has a narrower confidence interval and thus lower variability.

Background. Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder resulting from mutations in the PHOX2B gene located on chromosome 4p12.3, characterized by hypoventilation secondary to missing responses to both hypercapnia and hypoxia. Case report. Proband. A girl, hospitalised 5 times for respiratory failure from 6 weeks old, presented at 4 years of age severe cyanosis related to pneumonia. Tracheostomy was done, and she was discharged home using a portable positive pressure ventilator during sleep. Proband's father: The father was retrospectively found out to suffer from severe headache and excessive daytime sleepiness. Molecular genetic evaluation of PHOX2B gene was performed and casual polyalanine repeat expansion mutation c.741_755dup15 in exon 3 was found both in proband and her father in heterozygous form. The proband's grandmother died of respiratory failure after administration of benzodiazepine at the age of fifty years. Considering the grandmother's history, she is highly suspected of having had CCHS as well. Conclusion. Repeated respiratory failure of girl was explained by PHOX2B mutation and Ondina curse. Proband´s father has incompletely penetrated PHOX2B heterozygous mutation as well and proband´s grandmother died probably from the consequences of drug interaction with PHOX2B mutated background as well. Both daughter and father currently require overnight mechanical ventilatory support. Although most PHOX2B mutations occur de novo, our case is a rare three generation family affected by autosomal dominant inheritance with incomplete penetrance manifested as the late-form of CCHS and proven PHOX2B mutation in two generations.

Předloženo v listopadu 2009Obezita je problém, který se netýká pouze dospělé populace, ale stá-le častěji dětské populace. Cílem této práce bylo porovnat u skupiny dětí s obezitou a skupiny atletů pohybovou aktivitu a porovnat délku kojení, BMI (body mass index) rodičů. Při porovnávání hodnot BMI rodičů se oba soubory statisticky významně lišily a to pouze ve skupině otců, ve skupině matek nebyl prokázán signifi kantní rozdíl. Obezita je tedy problémem celé rodiny a jejich životního stylu. Mezi atlety a obézními dětmi jsme nenašli signifi kantní rozdíly v porodní hmotnosti ani v délce kojení. Statisticky významné rozdíly nebyly nalezeny ani v účasti při tělesné výchově nebo v čase, který stráví u televize nebo počítače. Tyto údaje byly získány pomocí dotazníku a domníváme se, že bylo by vhodné tuto informaci objektivizovat např. pomocí CSA akcelerometru. Klíčová slova: obezita v dětském věku, pohybová aktivita, rizikové faktory. ÚVODPohyb patří k základním biologickým projevům lidského života. V dneš-ní době dochází k jeho úbytku, stále častěji se setkáváme s pojmy jako je hypokineze a sedavý životní styl (Stejskal, 2004).