To study the prevalence of high blood pressure (BP) in an Italian paediatric population, and to verify whether in this population elevated BP values are associated with overweight (OW). Children (1206 males, 1210 females) from the lower-grade public schools (ages 6–11 years) were studied. Body weight, height and BP were measured in each child. Elevated BP was defined if resting systolic and/or diastolic BP values equalled or exceeded the 95th percentile according to gender, age and height, based on the US normative BP tables. Overweight children were identified using four different methods: (1) the classification based on the relative body weight; (2) the French references by Rolland-Cachera et al. (Am J Clin Nutr 1982; 36:178–184); (3) the International Obesity Task Force charts; and (4) the Italian charts defined by Cacciari et al. (Eur J Clin Nutr 2002; 56:171–180). The prevalence of high BP in our population was 4.2% and was significantly higher in females (65/1210 = 5.4%) than in males (37/1206 = 3.1%), P = 0.005. The different methods used to define OW provide different estimates of OW prevalence (from 17.0 to 38.6%). The percentage of high BP subjects was significantly higher in OW than in normal-weight children regardless of the method used for the definition of the weight class (P < 0.0001), in both genders. In addition, for each age range, absolute systolic and diastolic BP values were higher in OW as compared to normal-weight children both in males and in females (P < 0.0001). Our study indicates the importance of performing BP screenings in the paediatric population, and to promote interventions that may reduce the prevalence of OW in children.

BackgroundChronic activation of the renin-angiotensin system (RAS) plays an important role in the pathogenesis of heart failure. Increasing evidence indicates that other than the circulating RAS, a local RAS exists in several tissues, including the heart. The present study was carried out to quantify cardiac, renal, and pulmonary mRNA levels of renin, angiotensin-converting enzyme (ACE), and types 1 and 2 angiotensin II receptors (AT-1 and AT-2), in rats with different severities of heart failure.Methods and ResultsHeart failure was induced by the creation of an aortocaval fistula below the renal arteries. Rats with aortocaval fistula either compensate and maintain a normal sodium balance or decompensate and develop severe sodium retention. Six days after placement of the aortocaval fistula, heart weight (normalized to body weight) increased 35% (P<.05) in compensated and 65% in decompensated rats compared with control rats. Plasma renin activity increased 45% (P<.05) in rats in sodium balance and 127% in sodium-retaining rats. Total RNA was extracted from the heart, kidneys, and lungs, followed by reverse transcription–quantitative polymerase chain reaction. Renin mRNA levels in the heart, after 40 cycles, increased 68% (P<.01) and 140% in rats with either compensated or decompensated heart failure, respectively. Renal renin-mRNA levels also increased 130% (P<.05) in decompensated and only 52% (P<.05) in compensated animals. ACE-mRNA increased in a similar pattern in the heart but not in either the kidneys or lungs. Moreover, pulmonary, renal, and cardiac ACE immunoreactivity levels, assessed by Western blot analysis, showed the same trend. AT-1 receptor mRNA levels decreased 54% (P<.05) only in the myocardium of decompensated rats, whereas AT-2 receptor mRNA did not change in any tissue studied.ConclusionsThe development of heart failure is associated with a remarkable increase in the expression of a local RAS in the heart, which may contribute to the pathogenesis of this clinical syndrome.

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder. The accumulation of globotriaosylsphingosine (LysoGb3) was determined in blood of positives. Exonic mutations in the GLA gene were detected in 471 patients (207 Probands and 264 relatives): 71.6% of mutations were associated with the classic phenotype, 19.8% were associated with the late-onset phenotype, and 8.6% of genetic variants were of unknown significance (GVUS). The accumulation of LysoGb3 was found in all male patients with a mutation responsible for classic or late-onset FD. LysoGb3 levels were consistent with the type of mutations and the symptomatology of patients. α-Gal A activity in these patients is absent or dramatically reduced. In recent years, confusion about the pathogenicity of some mutations led to an association between non-causative mutations and FD. Our study shows that the identification of FD patients is possible by associating clinical history, GLA gene analysis, α-Gal A assay, and blood accumulation of LysoGB3. In our experience, LysoGB3 can be considered a reliable marker, which is very useful to confirm the diagnosis of Fabry disease.

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides are rare systemic diseases that usually occur in adulthood. They comprise granulomatosis with polyangiitis (GPA, Wegener’s), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (EGPA, Churg-Strauss syndrome). Their clinical presentation is often heterogeneous, with frequent involvement of the respiratory tract, the kidney, the skin and the joints. ANCA-associated vasculitis is rare in childhood but North-American and European cohort studies performed during the last decade have clarified their phenotype, patterns of renal involvement and their prognostic implications, and outcome. Herein, we review the main clinical and therapeutic aspects of childhood-onset ANCA-associated vasculitis, and provide preliminary data on demographic characteristics and organ manifestations of an Italian multicentre cohort.

Objective To investigate the ability of BMI and waist circumference, single and combined, in identifying children who are at risk of hypertension and in influencing absolute blood pressure values. Methods The body weight, height, waist circumference and blood pressure of 4177 5–11-year-old school children [2005 (48%) girls] were collected. Elevated blood pressure was defined if either systolic or diastolic blood pressure values or both were more than the 95th percentile according to sex, age and height (US normative blood pressure tables). Overweight and obese children were defined according to International Obesity Task Force BMI cut-offs. Results The prevalence of hypertension was 4.1% and increased together with weight class: 1.4% (n = 42/3076) in normal weight, 7.1% (n = 59/827) in overweight and 25% (n = 69/274) in obese (P < 0.001). Only BMI and waist circumference showed a remarkable ability to discriminate hypertensive children (areas under receiver operating characteristic curves, 0.84 and 0.76, respectively). The multivariate analysis showed that z-scores for both BMI and waist circumference were significantly related to the risk of hypertension with odds ratios of 3.59 (95% confidence interval, 2.55, 5.06) and 1.20 (95% confidence interval, 1.04, 1.39), respectively, after adjusting for sex and age. When the weight class was included in the multivariate analysis, waist circumference retained its ability to identify hypertensive children only in the obese class (odds ratio, 1.44; 95% confidence interval, 1.21, 1.72; P < 0.01). When considering blood pressure as a continuous variable, both weight class and waist circumference showed a significant effect on systolic and diastolic blood pressure absolute values (P < 0.01). The effect of waist circumference on blood pressure values was maintained even when corrected for BMI. Conclusion High blood pressure is strongly associated with excess weight. Waist circumference improves the ability of BMI to identify hypertension in obese children. Waist circumference is related to absolute blood pressure values in all weight classes.

A prolongation of QT interval has been shown in patients with cirrhosis and it is considered as part of the definition of the so-called ‘cirrhotic cardiomyopathy’. The aim of the present study was to assess the determinants of QT interval prolongation in cirrhotic patients. Forty-eight male patients with different stages of liver disease were divided into three subgroups according to the Child–Pugh classification. All patients underwent a 24-h ECG Holter recording. The 24-h mean of QT intervals corrected for heart rate (termed QTc) and the slope of the regression line QT/RR were calculated. HRV (heart rate variability), plasma calcium and potassium concentration and HVPG (hepatic venous pressure gradient) were measured. QTc was progressively prolonged from Child A to Child C patients (P=0.001). A significant correlation between QTc and HVPG was found (P=0.003). Patients with alcohol-related cirrhosis presented QTc prolongation more frequently than patients with post-viral cirrhosis (P<0.001). The QT/RR slope was steeper in subjects with alcoholic aetiology as compared with viral aetiology (P=0.02), suggesting that these patients have a further QTc prolongation when heart rate decreases. The plasma calcium concentration was inversely correlated with QTc (P<0.001). The presence of severe portal hypertension was associated with decreased HRV (P<0.001). Cirrhotic patients with a more severe disease, especially of alcoholic aetiology, who have greater HVPG and lower calcium plasma levels, have an altered ventricular repolarization and a reduced vagal activity to the heart, which may predispose to life-threatening arrhythmias.