Hypertension and obesity in Italian school children: The role of diet, lifestyle and family history.

BACKGROUND AND AIMS: In Italy, the prevalence of hypertension, obesity and overweight in paediatric patients has increased in the past years. The purpose of this study was to analyse the relationship between obesity and hypertension and related factors in Italian students. METHODS AND RESULTS: We studied 2007 healthy individuals between the ages of 6 and 17 years of age (998 males and 1009 females) attending schools in the cities of Varese (northern Italy), Rome (central Italy) and Catanzaro (southern Italy). The blood pressure, weight and height of the students were measured. We also assessed their daily intake of foods and the amount of physical activity they performed. A questionnaire was administered to the parents of the subjects to obtain information on the child's medical history and family lifestyle. Of the students, 27.2% were overweight, and 6.6% were obese, with the highest percentages in southern Italy. A total of 6.2% of students had hypertension, and the region with the highest percentage was found to be northern Italy. Obese students had a risk of developing hypertension that was four times greater than those subjects who were of normal weight. CONCLUSION: Overweight and obese children/adolescents were more frequently found in southern Italy as opposed to northern and central Italy, and hypertensive children were more prevalent in the north. An unhealthy diet might explain the more widely spread obesity among children living in the south; an excess use of salt could explain the greater rate of hypertension found among children/adolescents living in the north.

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.

We report on three sibs who have autosomal recessive Clericuzio-type poikiloderma neutropenia (PN) syndrome. Recently, this consanguineous family was reported and shown to be informative in identifying the C16orf57 gene as the causative gene for this syndrome. Here we present the clinical data in detail. PN is a distinct and recognizable entity belonging to the group of poikiloderma syndromes among which Rothmund-Thomson is perhaps the best described and understood. PN is characterized by cutaneous poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. In order to delineate the phenotype of this rare genodermatosis, the clinical presentation together with the molecular investigations in our patients are reported and compared to those from the literature.

Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new cases.

To date the association between mucopolysaccharidosis (MPS) IIIA and precocious puberty has been found in only three polish patients. We observed two children affected by MPS IIIA with central precocious puberty (CPP) both treated with GnRH agonists. The occurrence of CPP in both patients with MPS IIIA suggests that it is necessary to look for an association between the two conditions. The follow-up of our two patients leads us to believe also that GnRH agonist treatment can have a beneficial effect on final height and probably on the improvement of behavioural problems.

Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.

Deficiency of dihydropteridine reductase causes a variant form of phenylketonuria associated with a devastating neurological disease characterized by mental retardation, hypokinesis and other features relating to basal ganglia disorder. Hyperphenylalaninaemias with tetrahydrobiopterin deficiency make up about 1-3% of all hyperphenylalaninaemias. We describe three patients from Calabria, a southern region of Italy, who have a dihydropteridine reductase deficiency, caused by the same mutation (p.L14P) also found in the nearby region of Sicily. We report the evolution of clinical and biochemical data during the treatment of these patients where we used prolactin serum determination to adapt the specific therapy. This report suggests that serum prolactin levels can be a good biomarker for optimal dosage of hydroxylated precursors in long-term treatment monitoring.

Can a generalized kindling seizure induce a reward state?

The postictal behavioral depression (PBD), characterized by behavioral immobility and unresponsiveness to environmental stimuli, observed after a stage 5 kindling seizure is opioid dependent. Morphine injection prolongs while naloxone and naltrexone (opioid antagonists) reduce or eliminate PBD. Opioids have clear rewarding actions that can be easily detected by place preference conditioning (PPC). In the present study, we evaluated if the opioid release after a stage 5 kindling seizure that produces PBD could induce PPC. Male rats were kindled in the medial preoptic area (MPOA), the amygdala (AMG) or insular cortex (IC). After kindling was established their initial preference in a three-compartment chamber was determined. During conditioning, subjects received a standard kindling stimuli that evoked a stage 5 seizure. At the end of the after discharge and during the PBD the animals were placed in the non-preferred chamber for 30 min. On alternate days they were placed without stimulation in the preferred chamber. At the end of conditioning the kindled groups showed a clear change of preference. This change of preference was completely blocked by injection of naloxone. These results suggest that opioid release after a stage 5 kindling seizure can induce a positive affect of sufficient intensity and duration to induce conditioning.

Adrenocortical tumor in a boy: final height is not impaired despite a severe advancement of bone age.

The long-term sequelae on the growth pattern in successfully resected virilizing adrenal tumors (ACT) have not been clearly defined. We report on 10 years follow-up of a boy with virilizing ACT until the attainment of final height. This is the first clinical description in a boy with a marked advancement of bone age, indicating that despite advanced physical and skeletal maturity the prognosis on growth is good, provided that regression of virilization is obtained.

[Effects of the treatment using synthetic LH-RH nasal spray in cryptorchism]. / Effetti del trattamento con LH-RH sintetico spray nasale nel criptorchidismo.

The effects of hormonal treatment with synthetic LH-RH (Kryptocur) applied as nasal spray at a dose of 1.2 mg daily over a period of 28 days were investigated on 62 undescended testes in 40 boys divided in two groups: below and above 6 years. Only retained testes were treated. Complete descent was achieved primarily in 46.7%, but follow up examination 6 months after therapy showed relapse in 9%, so that percent was reduced to 39.7%. Therapy was more effective in patients with unilateral undescended testes aged below 6 years; however they showed relapse in 33%. Bilateral undescended testes were more sensitive to the treatment (25%) in children aged over 6 years. In these patients we didn't observe relapse. No hormonal changes in FSH, LH and testosterone were observed before and after treatment, whether in basal or in pick after 25 micrograms i.v. of LHRH. 3 boys treated unsuccessfully showed low values of FSH after LHRH test at end of treatment. Treatment of cryptorchidism with intranasal synthetic LH-RH seems to be effective without side effects and painless. For this reason it may be used as attempt before surgery, particularly in boys aged below 6 years.

Neonatal adrenal hemorrhage presenting as contralateral scrotal ematoma.

Neonatal adrenal hemorrhage may rarely present as scrotal hematoma. This condition can simulate a torsion of the testis requiring an immediate surgical exploration of the scrotum. Ultrasonographic study of the abdomen can find out intraperitoneal or retroperitoneal bleeding in order to avoid unnecessary surgical intervention. The case of a newborn with right adrenal hemorrhage presenting as left scrotal hematoma is reported.

Genetic and physical characterization of grain texture-related loci in diploid wheat.

Endosperm texture, i.e. the hardness or softness of the grain, is an important quality criterion in cereals because it determines many grain end-use properties. Grain softness is the dominant trait and is mainly controlled by the Ha locus on the short arm of chromosome 5D in hexaploid bread wheat. Genes for puroindoline a (Pina-D1), puroindoline b (Pinb-D1), and grain softness related protein (Gsp-D1) have been shown to be linked to the Ha locus in different mapping populations and have been associated with the expression of grain softness. The study of the linkage relationships among these genes has been limited by the low level of polymorphism in the D genome of hexaploid Triticum aestivum. In the present study, a highly polymorphic Triticum monococcum mapping population was used to analyze linkage relationships among these three genes. Gsp-Am1 and Pina-Am1 were found to be completely linked and lie 0.14 cM distal to Pinb-Am1 in the distal region of the short arm of chromosome 5Am. The tight genetic linkage among these three genes was paralleled by their physical proximity within a single 105-kb clone isolated from a T. monococcum bacterial artificial chromosome (BAC) library. A restriction map of this BAC clone showed that Pina-Am1 is located between Pinb-Am1 and Gsp-Am1. Partial sequences of the T. monococcum genes showed a high degree of similarity with their T. aestivum counterparts (> or =94%). Marker-assisted selection strategies based on the tight linkage among Ha-related genes are discussed.

Construction and characterization of a bacterial artificial chromosome (BAC) library for the A genome of wheat.

A genomic bacterial artificial chromosome (BAC) library of the A genome of wheat has been constructed. Triticum monococcum accession DV92 was selected for this purpose because it is a cultivated diploid wheat and one of the parental lines used in the construction of a saturated genetic map. Leaves from this accession were used to isolate high-molecular-weight DNA from nuclei. This DNA was partially digested with restriction enzyme Hind III, subjected to double size selection, electroeluted and cloned into the pINDIGO451 BAC vector. The library consists of 276,480 clones with an average insert size of 115 kb. Excluding the 1.33% of empty clones and 0.14% of clones with chloroplast DNA, the coverage of this library is 5.6 genome equivalents. With this genome coverage the probability of having any DNA sequence represented in this library is higher than 99.6%. Clones were sorted in 720,384-well plates and blotted onto 15 high-density filters. High-density filters were screened with several single or low-copy clones and five positive BAC clones were selected for further analysis. Since most of the T. monococcum BAC ends included repetitive sequences, a modification was introduced into the classical end-isolation procedure to select low copy sequences for chromosome walking.

Characterization of mycobacterial isolates phylogenetically related to, but different from Mycobacterium simiae.

The use of high-performance liquid chromatography (HPLC) revealed four previously unreported profiles within a group of mycobacteria consisting of 14 clinical isolates. These mycobacteria, whose identification by conventional tests appeared problematic, mostly resembled Mycobacterium avium complex or Mycobacterium simiae. Genetic analysis revealed, within this group, six different nucleic acid sequences in a hypervariable 16S rRNA segment, but all the isolates appeared to be phylogenetically related to M. simiae. Six isolates representing the largest of groups defined by means of genetic sequencing turned out to belong to the newly described species Mycobacterium lentiflavum. Furthermore, three such clusters precisely coincided with three of those defined by HPLC, while the three remaining clusters shared almost identical HPLC profiles. All but one strain (which, although clearly not belonging to the M. avium complex, hybridized with specific commercial DNA probes) showed high-grade resistance to the majority of antimycobacterial drugs. Three of the isolates were clinically significant according to stringent criteria. Sophisticated techniques, like genetic sequencing or HPLC, by now seem indispensable for differentiating unusual and new mycobacteria from well-established ones.