[show abstract][hide abstract] ABSTRACT: The European Society of Hypertension has recently published its recommendations on prevention, diagnosis and treatment of high blood pressure in children and adolescents. Taking this contribution as a starting point the Study Group of Hypertension of the Italian Society of Pediatrics together with the Italian Society of Hypertension has conducted a reappraisal of the most recent literature on this subject. The present review does not claim to be an exhaustive description of hypertension in the pediatric population but intends to provide Pediatricians with practical and updated indications in order to guide them in this often unappreciated problem. This document pays particular attention to the primary hypertension which represents a growing problem in children and adolescents. Subjects at elevated risk of hypertension are those overweight, with low birth weight and presenting a family history of hypertension. However, also children who do not present these risk factors may have elevated blood pressure levels. In pediatric age diagnosis of hypertension or high normal blood pressure is made with repeated office blood pressure measurements that show values exceeding the reference values. Blood pressure should be monitored at least once a year with adequate methods and instrumentation and the observed values have to be interpreted according to the most updated nomograms that are adjusted for children's gender, age and height. Currently other available methods such as ambulatory blood pressure monitoring and home blood pressure measurement are not yet adequately validated for use as diagnostic instruments. To diagnose primary hypertension it is necessary to exclude secondary forms. The probability of facing a secondary form of hypertension is inversely proportional to the child's age and directly proportional to blood pressure levels. Medical history, clinical data and blood tests may guide the differential diagnosis of primary versus secondary forms. The prevention of high blood pressure is based on correct lifestyle and nutrition, starting from childhood age. The treatment of primary hypertension in children is almost exclusively dietary/behavioral and includes: a) reduction of overweight whenever present b) reduction of dietary sodium intake c) increase in physical activity. Pharmacological therapy will be needed rarely and only in specific cases. La Societa Europea dell'Ipertensione Arteriosa ha recentemente pubblicato delle raccomandazioni per prevenzione, diagnosi e trattamento dell'ipertensione arteriosa nel bambino e nell'adolescente. A partire da questo contributo, il Gruppo di Studio dell'Ipertensione Arteriosa della Societa Italiana di Pediatria insieme alla Societa Italiana dell'Ipertensione Arteriosa ha eseguito una revisione della letteratura piu recente sull'argomento. Il presente manoscritto non vuole essere una descrizione esaustiva del tema dell'ipertensione arteriosa in eta pediatrica, ma intende fornire ai Pediatri indicazioni pratiche e aggiornate che li aiutino ad affrontare questo problema spesso trascurato. Il documento pone particolare attenzione all'ipertensione primitiva, un crescente problema nei bambini e negli adolescenti. I soggetti a maggior rischio di ipertensione sono quelli in eccesso ponderale, nati di basso peso e con un'anamnesi familiare positiva per ipertensione arteriosa. Anche bambini che non presentano questi fattori di rischio possano pero presentare valori pressori elevati. La pressione arteriosa deve essere misurata almeno una volta l'anno con modalita e strumenti adeguati e i valori vanno interpretati in base ai nomogrammi piu aggiornati, considerando sesso, eta e altezza del bambino. In eta pediatrica la diagnosi di ipertensione arteriosa e di pressione normale-alta viene fatta in presenza di ripetute misurazioni ambulatoriali superiori ai valori di riferimento. Metodiche quali il monitoraggio pressorio delle 24 ore e l'automonitoraggio a domicilio al momento non hanno una sufficiente validazione per essere utilizzate con sicurezza come strumenti diagnostici. Per diagnosticare un' ipertensione primitiva e necessario escludere la presenza di forme secondarie. La probabilita di essere davanti a una forma secondaria e inversamente proporzionale all'eta del bambino e direttamente proporzionale ai valori pressori. Dati anamnestici, clinici e alcuni esami ematochimici e strumentali possono, nella maggioranza dei casi, orientare la diagnosi differenziale tra forme primitive e secondarie. La prevenzione dell'ipertensione arteriosa, gia a partire dall'eta pediatrica, si basa su stili di vita e di alimentazione corretti. Il trattamento dell'ipertensione arteriosa primitiva nel bambino e nell'adolescente e quasi esclusivamente di tipo dietetico-comportamentale e prevede: i) riduzione dell'eccesso ponderale quando presente ii) riduzione dell'apporto di sodio con la dieta iii) aumento dell'attivita fisica. Raramente e solo in casi selezionati sara necessario ricorrere alla terapia farmacologica.
[show abstract][hide abstract] ABSTRACT: AIM:An investigation on human milk donors among the milk banks of Tuscany's network was carried out. Milk banks select, collect, check, process, store and deliver human milk, whose donors should have certain physical and psychological well-being features. The aim of the study was to describe a personal and social profile of milk donors. METHODS: The study included a sample of 100 milk donors and a sample of 100 non-milk donor mothers; a questionnaire that collected data about mothers' general information, clinical history, pregnancy and delivery, weight variations, state of health, lifestyle, breastfeeding and knowledge about milk banks was administered to all of them. Then information about food history of mothers has also been collected. RESULTS:First the samples of donors were analysed for all variables considered. Subsequently the samples of donors were compared with the samples of non-donors: statistical analysis was carried out with χ2 test and documented significant differences between donors and non-donors for the majority of variables considered in the questionnaire and for food history. CONCLUSION: Milk donors have a good state of health, and the integration in milk donation initiative headed towards a healthier lifestyle. It is necessary to promote an advertising campaign to integrate social and sanitary politics, fitting to local socio-economical contest. Furthermore, the improvement of milk banks of public hospitals is necessary, as hospitals are places of major stream both of potential donors and newborns.
[show abstract][hide abstract] ABSTRACT: Intrauterine growth restriction plays a powerful role in influencing later susceptibility to certain chronic diseases, such as hypertension. Endothelial dysfunction and arterial stiffness are early events in the development of cardiovascular diseases (CVDs). We have studied vascular compliance in small for gestational age (SGA) children/adolescents in comparison with that in appropriate for gestational age (AGA) subjects.
We monitored blood pressure, vascular resistance and compliance in 82 children-adolescents (52 SGA, 30 AGA), by means of pulse wave analysis (CR 2000 HDI) at the radial level, before and after 3 min of ischemic stress at the brachial level.
In the children/adolescents born SGA we found a significant increase in systolic and diastolic blood pressure and vascular resistance in the basal condition; the large and small vessels were stiffer. After ischemia we observed an increased vascular response in the SGA children/adolescents: there was a great diminution of systolic and diastolic blood pressure and a larger increase of the elasticity of the conduit and resistance vessels.
These data show that the SGA group presented some early signs of arterial wall functional disorders. More pediatric data are needed for the evaluation by non-invasive techniques of vascular function in children-adolescents at risk of CVD.
[show abstract][hide abstract] ABSTRACT: Our aim was to compare urinary ethylmalonic acid (EMA) levels in subjects who had no apparent clinical reason to have increased levels of this substance but were suffering from non-specific CNS impairment, and healthy controls. Urinary EMA concentrations detected by (1)H-NMR spectroscopy were studied in 130 subjects with CNS impairment of unknown origin (with no definite diagnosis, no specific symptoms or signs, and normal common biochemical and metabolic screening results) and 130 age- and sex-matched healthy subjects. EMA levels exceeding two standard deviations (SD) above normal (i.e. 8.1 mmol/molCn) were found in a subgroup of CNS-impaired patients and healthy controls. EMA levels exceeding 2 SD above normal were fourfold prevalent in the urine of patients with non-specific CNS impairment compared to from the EMA levels in healthy controls. Moreover, we found that the level exceeding > 8.1 mmol/molCn (i.e. > + 2 SD) had sufficient discrimination accuracy in identifying subjects with non-specific CNS impairment; the level exceeding 12 mmol/molCn (i.e. > + 6 SD) reaches suitable accuracy (i.e. 100% specificity and 78.6% sensitivity). These observations are of importance, as we found that subtle increases in urinary EMA levels are frequent in patients with non-specific CNS impairment. The reasons for this association remain unknown.
NMR in Biomedicine 02/2010; 23(4):353-8. · 3.45 Impact Factor
[show abstract][hide abstract] ABSTRACT: Activin-A is a protein over-expressed and secreted by the brain after neuronal destruction. We evaluated whether serum activin-A increases in asphyxiated full-term newborns (AFTNs) at risk of hypoxic-ischemic-encephalopathy (HIE). 105 consecutive infants (35 affected by perinatal asphyxia due to acute fetal distress; 70 healthy gestational-age matched newborns) underwent cranial assessment and neurologic examination at 12, 24 and 72 hours after birth and, on discharge from the hospital and; activin-A and monitoring laboratory variables assessment at birth. According to the occurrence of HIE within 7-days after birth, AFTNs were subdivided in Group A (n= 20; no/mild HIE with good prognosis) and Group B (n= 15; moderate/severe HIE with a greater risk of neurological handicap). Activin-A was significantly (P less than 0.0001) higher in Groups A and B than controls and highest (P less than 0.001) in Group B. At 0.66 ng/L activin-A achieved a sensitivity of 93.33 per cent and a specificity of 96.63 per cent, respectively, as HIE diagnostic test. These findings show that activin A increased in AFTNs with HIE before the appearance of related signs.
Frontiers in bioscience (Elite edition) 01/2010; 2:36-42.
[show abstract][hide abstract] ABSTRACT: For the first time, the use of urine [(1)H] magnetic resonance spectroscopy has allowed the detection of 1 case of guanidinoacetate methyl transferase in a database sample of 1500 pediatric patients with a diagnosis of central nervous system impairment of unknown origin. The urine [(1)H] magnetic resonance spectroscopy of a 9-year-old child, having severe epilepsy and nonprogressive mental and motor retardation with no apparent cause, revealed a possible guanidinoacetic acid increase. The definitive assignment of guanidinoacetic acid was checked by addition of pure substance to the urine sample and by measuring [(1)H]-[(1)H] correlation spectroscopy. Diagnosis of guanidinoacetate methyl transferase deficiency was further confirmed by liquid chromatography-mass spectrometry, brain [(1)H] magnetic resonance spectroscopy, and mutational analysis of the guanidinoacetate methyl transferase gene. The replacement therapy was promptly started and, after 1 year, the child was seizure free. We conclude that for this case, urine [(1)H] magnetic resonance spectroscopy screening was able to diagnose guanidinoacetate methyl transferase deficiency.
Journal of child neurology 06/2009; 25(1):98-101. · 1.59 Impact Factor
[show abstract][hide abstract] ABSTRACT: To determine in MECP2-mutated Rett syndrome (RTT [MIM 312750]): (1) the prevalence of drug-resistant epilepsy (DRE); (2) whether the presence of DRE is related to the abnormal EEG patterns or to the particular MECP2 mutant genotype.
Retrospective survey of a large population of patients (n=154) evaluated between 1978 to 2007 (May) at the Child Psychiatry and Neurology Unit of Siena (Italy) with both clinical and genetic (i.e. MECP2 mutated) diagnoses of RTT. Some subjects were followed for up to 20 years. Among those, cases with epilepsy were first selected for study; within that group, cases with DRE were identified and studied. The association between clinical severity of their epilepsy and quantitative or qualitative scores of EEG severity was tested using rank coefficients (Spearman's rho values). The relationship between DRE and RTT genotype category (i.e. gene deletion, gene duplication, early truncating mutation, late truncating mutation, and missense mutation) or a specific MECP2 genotype was tested using the chi-square test. A p-value <0.05 (two sided) was considered to indicate statistical significance.
Prevalence of DRE was 16% (i.e. 16 DRE out of 100 MECP2-mutated RTT epileptic patients). No significant relationship was found between clinical severity of DRE and quantitative (p=0.9190) or qualitative EEG scores (p=0.1511). In addition, no significant relationship was found between the DRE and the RTT genotype category (chi-square=1.147, DF=4, p=0.8867), or a specific MECP2 genotype (chi-square=30.958, DF=39, p=0.8173).
Although RTT MECP2-mutated patients suffer from a serious and progressive encephalopathy, it is "epileptogenic" but not "DREgenic" as they have a decreased risk (16%) for DRE compared to the general epileptic population (DRE: 20-40%). The presence of DRE is not related to abnormal EEG findings or a particular MECP2 mutant genotype.
These observations could be of help in the practical management and family counseling.
[show abstract][hide abstract] ABSTRACT: Accidents are the main cause of death and disability in children and adolescents aged 1-15 years and cause more than one sixth of all infant admissions to hospital. In Italy, about 400 children and adolescents are involved in domestic accidents and more than 200 in road accidents. The aim of the study was to determine the number and type of accidents involving children and adolescents in the area of Siena and to compare present results with those obtained 20 years ago in order to assess the effectiveness of preventive measures evolving in the period.
Two groups of patients were admitted to the hospital of Siena for accidents between 1980-1985 and 2000-2006; age, gender, type of accident, frequency distribution in the study period and age of highest frequency of accidents were analysed.
The most frequent cause of admission to hospital in the earlier period was limb trauma with and without fracture, whereas in the later period it was head injury without fracture followed by limb trauma with and without fracture, and fracture of the skull, spine and trunk in boys and girls. Some variation in the course of the years was observed in both study period, however a constant, gradual reduction in admissions is evident.
Comparison of these data with those collected 20 years earlier revealed a general reduction in the number of hospital admissions. This encouraging result suggests that what has been done so far is effective and should be continued, and that it is also worthwhile taking measures to further reduce the toll of accidents.
[show abstract][hide abstract] ABSTRACT: The aim of the study was to assess the prevalence of asthma and related respiratory symptoms in a sample of the Siena pediatric population that engages in sport.
The subjects were 460 young athletes, age 7-14 years, enrolled in 23 sporting clubs in 10 municipalities of Siena Province. Subjects and their parents answered a questionnaire on life style and the children underwent basal spirometric tests at their respective training centers.
A total of 352 questionnaires (76.6%) were returned; 80% of responders performed the spirometric test. The lifetime prevalences of asthma, allergic rhinitis and atopic dermatitis were found to be 17.33%, 22.16% and 11.08%, respectively. About 33.2% of subjects had also experienced symptoms compatible with exercise-induced bronchospasm (EIB) during sport and 4.2% of them had had to stop activity at least once.
The results suggest that EIB is a major phenomenon in our province and that this disorder interferes with, or even limits, physical activity of young athletes.
The Journal of sports medicine and physical fitness 10/2007; 47(3):351-5. · 0.73 Impact Factor
[show abstract][hide abstract] ABSTRACT: The aim of the study was to evaluate and compare methods of weaning suggested by pediatricians in two Italian regions with different geographical and cultural characteristics, Tuscany and Apulia.
Questionnaires were sent to 30 pediatricians, 15 in Tuscany and 15 in Apulia. Questions regarded prevalence and duration of breastfeeding, timing and manner of introducing other foods, and use of commercial baby food or food prepared at home.
The pediatricians advised beginning weaning between the 4(th) and the 6th months. In Tuscany, 60% of pediatricians advised breastfeeding for 6 months and 40% for 12 months. In Apulia the same figures were 86.7% and 13.3%. All pediatricians advised differentiated introduction of foods. The percentages of Tuscany pediatricians suggesting late introduction of certain foods were 31.70% for eggs, 19.51% for cow's milk, fish and tomato, 4.87% for vegetables and 2.44% for citrus and gluten. Foods introduced with caution by Apulia pediatricians were egg white (41.37%), gluten (31.03%) and fish (27.58%). The percentages of Tuscany and of Apulia pediatricians recommending home cooked food were 77.7% and 31.21%, respectively; 22.3% and 68.75% respectively recommended commercial baby food.
Pediatricians in both regions are aware of the importance of nutritional quality in the first year of life and provide indications about the timing and manner of introducing foods in line with international scientific guidelines.
[show abstract][hide abstract] ABSTRACT: A link between intrauterine growth restriction and major adult-onset diseases has been reported. In this study we observed a series of hitherto-unrecognized clinical features in a population of children with intrauterine growth restriction.
A total of 77 Italian children (aged 9.45 +/- 2.08 years) with antenatally diagnosed intrauterine growth restriction and small-for-gestational-age birth, along with their parents, were examined. The children with intrauterine growth restriction and were small for gestational age were subdivided into 2 groups ("variant" versus control subjects) according to evidence of auricle morphology deviation from normal. The following variables were determined: (1) external ear auricle geometry; (2) function of the posterior communicating arteries of the circle of Willis, as assessed by transcranial Doppler ultrasonography; (3) articular mobility, as assessed by Beighton's 9-point scale; (4) skin softness; and (5) distortion product-evoked otoacoustic emissions.
Intrauterine growth restriction-variant children (n = 27) showed a significant female predominance, a lower proportion of maternal pregnancy-induced hypertension/preeclampsia, and a higher head circumference as compared with intrauterine growth restriction control subjects. Mothers of small-for-gestational-age-variant children showed significantly different auricular geometry parameters as compared with the intrauterine growth restriction controls mothers. An excess of bilaterally nonfunctioning posterior communicating arteries was observed both in the children with the intrauterine growth restriction-variant phenotype and their mothers as compared with the control groups. Significantly increased proportions of joint hypermobility and skin softness were observed in the intrauterine growth restriction-variant children as compared with controls subjects. Children with the intrauterine growth restriction-variant phenotype and their mothers showed bilateral distortion product-evoked otoacoustic emissions notches versus none in the control subjects, with an associated reduction of the area under the curve in both the intrauterine growth restriction-variant children and their mothers. No significant differences between the variant and control groups regarding the fathers were observed.
We propose that the observed phenotypical constellation may represent an unrecognized variant of intrauterine growth restriction.
[show abstract][hide abstract] ABSTRACT: We report a female patient with neurodevelopmental delay and peculiar facial features. She has postnatal growth failure and an atrial septal defect. Patent duct arteriosis and tricuspidal insufficiency were also noted at birth. Characteristic facial features include medial flare eyebrows, dysmorphic helix of the right ear, cupshaped left ear, anteverted nares, long and smooth philtrum, thin upper lip, high vaulted palate. Array-CGH analysis demonstrated the presence of a 2.6 Mb deletion in 6q24.3-25.1. The phenotypic features of this case are very similar to those previously reported in a patient with a 7Mb overlapping deletion, pointing to a specific new syndrome. Twenty-two genes are present in the common critical deleted region. Among them, there is the PPP1R14C gene that encodes for KEPI, a PKC-potentiated inhibitory protein for type-1 Ser/Thr protein phosphatase. Its selective distribution in brain and heart well correlates with developmental delay and cardiac anomalies observed in the patient.
European Journal of Medical Genetics 01/2007; 50(4):315-21. · 1.69 Impact Factor
[show abstract][hide abstract] ABSTRACT: The aim of the present study was to determine and compare plasma and erythrocyte concentrations of magnesium in 12 autistic children (10 boys, 2 girls), 17 children with other autistic spectrum disorders (14 boys, 3 girls), 5 girls with classic Rett syndrome, and 14 normal children (7 boys, 7 girls) of the same age. No differences in intracellular Mg were found between controls and pathological subjects; however, autistic children and children with other autistic spectrum disorders had significantly lower plasma concentrations of Mg than normal subjects (p=0.013 and p=0.02, respectively). Although our study population was small, we conclude that children with autistic spectrum disorders require special dietary management. If these cases are diagnosed at an early stage, they can be helped through diet.
Biological Trace Element Research 03/2006; 109(2):97-104. · 1.31 Impact Factor
[show abstract][hide abstract] ABSTRACT: The aim of the paper is to verify the existence of an inverse correlation between birth weight and blood pressure (BP) in neonates, infants and adolescents.
BP was measured at 7 days, 3, 6, 9, 12 months and 7-18 years in 432 subjects born at term at the Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena; 228 of these subjects were small for gestational age (SGA) and 204 appropriate for gestational age (AGA). For small babies, BP was measured with a DYNAMAP oscillometer which provides digital visualisation of systolic, diastolic and mean arterial pressure and heart rate. In older children, a mercury sphygmomanometer was used. Statistical analysis was carried out with SPSS 8.01 software using the Kolmogorov-Smirnov test for normality of populations.
Statistical analysis did not reveal any significant differences between SGA and AGA subjects in the various age classes of the first 12 months of life. Significant correlation was found between 7 and 18 years with differences in the various age classes for systolic pressure. Subjects with normal birthweight had lower systolic and diastolic BP. SGA males had higher risk of high systolic and diastolic pressure, whereas SGA females were only at higher risk for elevated diastolic pressure.
SGA subjects should be monitored for BP and life-style between 7 and 18 years to risk of cardiovascular disease.
[show abstract][hide abstract] ABSTRACT: The clinical and electroencephalographic (EEG) response to combined therapy with vigabatrin and topiramate was evaluated in five patients ages 7 to 15 months affected by West syndrome in an open-label trial. Four patients had cryptogenic and one patient had symptomatic (tuberous sclerosis) West syndrome. In cryptogenic patients who failed to respond to pyridoxine, vigabatrin was titrated to 80 to 100 mg/kg. Because control of infantile spasms or an EEG improvement was not obtained with vigabatrin treatment, topiramate was added (3-3.8 mg/kg/day). In all patients, the combined therapy with topiramate and vigabatrin achieved a rapid and complete normalization of infantile spasms, and in three patients with cryptogenic West syndrome, the EEG also became normal. In only one patient, transient anorexia was observed. This drug combination led to rapid neurodevelopmental normalization in cryptogenic patients. The results are promising and justify more trials in larger numbers of children with West syndrome.
Journal of Child Neurology 06/2004; 19(5):385-6. · 1.39 Impact Factor
[show abstract][hide abstract] ABSTRACT: We present our experience with the use of intermittent vagal nerve stimulation in 13 patients with medically intractable epilepsy. A surgical approach, with the exception of callosotomy, was impossible. The age range was 6-28 years (median 17 years). In all patients the epilepsy was severe and in six of them was symptomatic. Seven patients had Lennox-Gastaut syndrome, one epilepsy with myoclonic-astatic seizures, four localization-related and one symptomatic generalized epilepsy. The length of the follow-up averaged 22 months (range 8 months-3 years). Of the 13 patients, five (38.4%) had a 50% or more reduction in the number of seizures compared with preimplantation. Of these patients, one with a localization-related epilepsy had a 90% reduction as well as a significant improvement in alertness. Three patients showed no improvement with regard to the number of seizures but there was an improvement in alertness and, in one case in hyperactivity. Some seizure types responded better than others did: complex partial seizures with secondary generalization and atonic seizures. All our responsive patients improved in the first 2 months of VNS activation and only one case with further improvement was observed after this period. Considering the severity of the epilepsy the results can be considered satisfactory. We think that this treatment appears to be a safe adjunctive therapy for children and adults with medically and surgically intractable epilepsy.
Brain and Development 05/2004; 26(3):158-63. · 1.67 Impact Factor
[show abstract][hide abstract] ABSTRACT: Selenium (Se) is an essential nutritional element for humans. A low Se status has been documented in formula-fed small-for-gestational age (SGA) newborns in the first month of life. The aim of the study was to compare the nutritional selenium status in adequate-for-gestational age (AGA) and in SGA newborns in the first month of life in relation to feeding type. Se status was assessed by plasma and erythrocyte concentrations, determined by pulsed Zeeman effect-atomic absorption spectrophotometry. We studied 210 newborns divided in groups according to birth weight (129 AGA, 81 SGA ) and feeding type (breast milk, formula, mixed) in wk 1-4 of postnatal life. Erythrocyte Se levels are affected neither by feeding type nor by birth weight. Se plasmatic concentrations were lower in SGA than in AGA newborns. Significant differences in mean plasma concentrations were found between formula-fed and breast-fed (p=0.013) and between formula-fed and mixed-fed (p=0.006) SGA newborns. The difference was not significant in AGA neonates. Breast-fed SGA newborns consistently showed higher plasma Se concentrations than formula-fed newborns. Unless supplemented from birth, Se intake will be inadequate in bottle-fed SGA infants.
Biological Trace Element Research 02/2004; 99(1-3):71-81. · 1.31 Impact Factor