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Biomedical subjects

A Salvatoni

Publications and source records attributed to A Salvatoni.

At least 19 recordsLinked to original sources

Variability of the 13C-octanoic acid breath test for gastric emptying of solids in healthy children.

AIM: To assess the intra-individual variability of the 13C-octanoic acid breath test using non-dispersive infrared spectrometry for gastric emptying of solids in healthy children. METHODS: A 13C-octanoic acid breath test was performed at least two times in 19 healthy children (age 12.4 +/- 2.7 years) 2-7 days apart to measure gastric emptying of solids. Breath samples were taken before eating a 13C-octanoic acid-labelled pancake and at 15-min intervals for the following 240 min. Breath samples were analysed using non-dispersive infrared spectrometry; 13C-recovery was used to calculate values for gastric half-emptying time (t(1/2)), gastric lag phase (t(lag)) and gastric emptying coefficient. Intra-individual variability of the parameters t(1/2), t(lag) and gastric emptying coefficient were expressed as coefficient of intrasubject variation. RESULTS: The mean coefficient of intrasubject variation of t(1/2) was 13.3 +/- 7.9% (range 2.5-29.6%; interindividual range 99-204 min; intra-individual range 5-84 min for t(1/2)). The mean coefficient of intrasubject variation of t(lag) was 13.6 +/- 7.5% (range 0.8-27.8%) (interindividual range 65-146 min; intra-individual range 1-50 min for t(lag)). The mean coefficient of intrasubject variation of gastric emptying coefficient was 12.5 +/- 6.8% (range 3.4-30.2%; interindividual range 2.3-3.9; intra-individual range 0.17-1.4 for gastric emptying coefficient). The coefficient of intrasubject variations of t(1/2), t(lag) and gastric emptying coefficient were independent of the values of t(1/2), t(lag) and gastric emptying coefficient. CONCLUSIONS: Gastric emptying in healthy children is characterized by a large inter- and intra-individual variability and is concordant with the results obtained with other techniques.

Adolescent↗

Variability of the 13C-acetate breath test for gastric emptying of liquids in healthy children.

PURPOSE: Scintigraphy is considered as the "gold standard" for measuring gastric emptying (GE). The C-acetate breath test (C-ABT) offers an attractive alternative to measure GE of liquids as it is nonradioactive. The aim of this study was to assess the variability of the C-ABT for GE of liquids in healthy children using nondispersive infrared spectrometry (NDIRS). METHODS: The C-ABT was repeated at least 2 times in 21 healthy children (6 girls and 15 boys), aged between 6.2 and 16.4 years, 2 to 7 days apart. After an overnight fast, a standardized milk drink, labeled with 50 or 100 mg C-acetate according to weight, was administered. Breath samples were taken before feeding, at 5-minute intervals for the first 40 minutes and at 10-minute intervals for the following 140 minutes after feeding. Breath samples were analyzed using NDIRS, and C recovery was used to calculate values for gastric half-emptying time (t1/2), time of peak C exhalation, or gastric lag phase (tlag) and gastric emptying coefficient (GEC). Intraindividual variabilities of the parameters t1/2, tlag, and GEC were expressed as coefficient of intrasubject variation (CV). RESULTS: The median CV of t1/2 was 8.3% (CV range, 1.6%-16.2%; t1/2 interindividual range, 65-112 minutes; and t1/2 intraindividual range, 4-33 minutes). The median CV of tlag was 16.6% (CV range, 2.0%-26.6%; tlag interindividual range, 31-76 minutes; and tlag intraindividual range, 1-35 minutes). The median CV of GEC was 4.3% (CV range, 0.8%-15.7%; GEC interindividual range, 3.81-4.89; GEC intraindividual range, 0.08-1.31). The CVs of t1/2, tlag, and GEC were independent of age, sex, weight, height, and measured values of t1/2, tlag, and GEC. CONCLUSIONS: The C-ABT using NDIRS is an easy, noninvasive, and nonradioactive procedure with a large intraindividual variation for measuring GE of liquids in healthy children, but comparable to the variation reported with other techniques.

Adolescent↗

Hypogonadism and pubertal development in Prader-Willi syndrome.

UNLABELLED: Genital abnormalities and disorders of pubertal development such as hypogonadism are common in Prader-Willi Syndrome (PWS). Depending on age, PWS patients present genital hypoplasia and delayed or incomplete gonadal maturation. Nevertheless, only a few evaluations have been made of these findings in this syndrome; in the cases previously reported the diagnosis of PWS has often been based only on clinical criteria and not confirmed by genetic analysis. In this paper we describe both external genital findings and spontaneous pubertal development in 84 patients aged from 2.1 to 35.4 (42 males, 42 females) affected by PWS. Diagnosis was made using the Holm and Cassidy criteria and was confirmed by genetic analysis (methylation test and/or FISH). We evaluated the presence of cryptorchidism, scrotal development, length of penis and volume of testis in males and outlook of labia minora and/or clitoris, age of menarche and features of menses (when present) in females; in both sexes we also evaluated the onset of puberty. All recruited males showed cryptorchidism, which was bilateral in 36 out of 42 patients (86%); 38 patients (90%) underwent orchidopexy. Small testes and scrotal hypoplasia were present in 76% and 69% of cases, respectively. In 76% of females, hypoplasia or absence of labia minora and/or clitoris was described. Spontaneous menarche occurred only in 14/32 cases (44%) over the age of 15 years, but menstrual cycles were often a periodical vaginal spotting. Primary amenorrhea was diagnosed in 56% of cases. Isolated premature pubarche was present in six males and in six females (14% of cases) while one male and two females were affected by precocious puberty (3.6%). CONCLUSION: Hypogonadism represents a common clinical feature in PWS, confirming the importance of such a major diagnostic criterion. Cryptorchidism was consistently present in all our cases. Patients with PWS commonly fail to spontaneously complete puberty, although some patients may have early pubarche or, more rarely, precocious puberty. In older subjects, hormonal replacement therapy is not always necessary and it must be reserved for selected patients.

Adolescent↗

[Treatment of childhood obesity].

This article provides current guidelines on the treatment and prevention of childhood obesity. Since factors involved in obesity change with age, the therapeutic approach in pre-school children will be different from pupils and adolescents. The treatment will also be modulated on the basis of weight excess, weight gain velocity and complications. The main goal of the treatment should be to encourage the child and his family to have healthy lifestyle. Families who are not ready for change might benefit from counselling to improve motivation before starting treatment. A detailed alimentary and behavioural history is the start point of the treatment. The strategy of the intervention is to induce changes at three levels: 1) attitudes of parents; 2) physical activity; 3) energy intake. The treatment of the adolescents should take into account the pubertal changes and the psychological aspects of this peculiar period of life. Obesity is a chronic disease and its treatment needs long-life follow-up. The long-term results of the obesity treatment are often disappointing and we have to consider consistent prevention programs for better results.

Adolescent↗

Multiple pituitary hormone deficiency: management of puberty for optimal auxological results.

The overview in this paper focuses on ways of achieving optimal auxological results in puberty, principally in idiopathic and congenital multiple pituitary hormone deficiency (MPHD), suggested by the co-authors. We agreed that diagnosing gonadotrophin insufficiency/deficiency is difficult in young children and should be repeated in late prepuberty, but a firm diagnosis of MPHD helps avoid endocrine re-testing at the end of growth. The hypothalamic-pituitary axis must be reassessed periodically in evolving endocrinopathies, though current practice varies widely. Optimum age to induce puberty is 11-12 years in girls and 13-14 boys, and sex steroids are the preferred agents. Short-course testosterone to increase micropenis size is advantageous, but inducing early testicular maturation is not known to improve later fertility. There is also little evidence for increasing the dose of GH during puberty, though therapy should continue to final height, and possibly until peak bone mass is achieved. Delaying puberty is an option in septo-optic dysplasia, and minimising the dose of hydrocortisone is crucial in treating ACTH/cortisol insufficiency. Many unresolved questions remain in this difficult area.

Adolescent↗

Turner's syndrome.

Turner syndrome (TS) is the most common sex-chromosome abnormality in females. Short stature and hypogonadism are the classical clinical findings. The spontaneous final height (FH) ranges between 139 and 147 cm, representing a growth deficit of about 20 cm with respect to the unaffected population. GH therapy improves FH and should be started during childhood at a high dose of about 1 IU/kg/week (range 0.6-2 IU/kg/week). Some authors advocate combined therapy with an anabolic steroid at various doses (e.g. oxandrolone 0.05-0.1 mg/kg/day). This treatment results in a significantly increased FH, a large proportion of treated girls reaching a FH of more than 150 cm. Gonadal function is compromised during adolescence in about 80% of girls with TS, whilst in about 20% pubertal development occurs spontaneously. Oestrogen therapy should be started at the age of 13-14 years in hypogonadic patients; early onset of treatment (before 12 years) seems to compromise FH. Other concerns in these patients are fertility and osteopenia.

Adolescent↗

GH/IGF-I axis in Prader-Willi syndrome: evaluation of IGF-I levels and of the somatotroph responsiveness to various provocative stimuli. Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology.

Basal IGF-I levels and the GH response to at least two among provocative stimuli such as clonidine (CLO, Catapresan, 150 mcg/m2 p.o.), GHRH (1 mcg/kg i.v.)+arginine (ARG, 0.5 g/kg i.v. infusion during 30 min) and GHRH+pyridostigmine (PD, Mestinon cpr 60 mg p.o.) have been evaluated in 43 children with Prader-Willi syndrome (PWS, 17 males and 26 females, age 3-22 yr, 7 normal weight and 36 obese PWS), in 25 normal short children (NC, 17 males and 8 females, 7.7-18.5 yr) and in 24 children with simple obesity (OB, 14 males, 10 females, 7.7-21.5 yr). Both normal weight and obese PWS had mean IGF-I levels lower than those recorded in NC (p<0.001) and OB (p<0.001). The GH responses to GHRH+ARG and GHRH+PD in NC were similar and higher than that to CLO (p<0.001). In PWS the GH response to GHRH+ARG was higher than that to GHRH+PD (p<0.001) which, in turn, was higher than that to CLO (p<0.001); these responses in PWS were lower than those in normal children (p<0.02) and similar to those in OB. In normal weight PWS the GH responses to GHRH+ARG and to GHRH+PD were similar and higher than to CLO (p<0.05); however, each provocative stimulus elicited a GH rise lower than that in NC (p<0.05). In obese PWS as well as in OB the GH response to GHRH+ARG was higher than that to GHRH+PD (p<0.02) which, in turn, was higher than that to CLO (p<0.001); all GH responses in obese PWS and OB were lower than those in NC (p<0.001) but similar to those in normal weight PWS. In conclusion, patients with PWS show clear reduction of IGF-I levels as well as of the somatotroph responsiveness to provocative stimuli independently of body weight excess. These results strengthen the hypothesis that PWS syndrome is frequently connotated by GH insufficiency.

Adolescent↗

Body composition and growth in asthmatic children treated with inhaled steroids.

BACKGROUND: Prolonged treatment with inhaled steroids is recommended for long-term control of asthma in children; however, it can interfere with growth and body composition. OBJECTIVE: The aim of this study is to answer the question whether 6 months treatment with inhaled steroids causes body fat accumulation and growth velocity reduction. METHODS: Hospital-based, open study of body composition [by dual-energy X-ray absorptiometry (DXA), bioelectrical impedance analysis (BIA) and skinfolds] and growth of 26 asthmatic children, treated for 6 months with inhaled steroids [budesonide (BUD) 400 microg/day (group 1) or fluticasone proprionate (FP) 200 microg/day (group 2)], sodium cromoglycate and beta2-agonist (salbutamol) compared with a control group of 16 asthmatic children treated only with sodium cromoglycate and beta2-agonist. RESULTS: On average, total and regional fat mass, adjusted for pubertal stage and gender, and growth velocity were similar in all three groups of patients and were not influenced by treatment (% mean change +/- 1 SD of fat mass during treatment in BUD 0.1 +/- 3.0%, FP -1.1 +/- 3%, and control -2.8 +/- 3.5%; ANOVA P > or = .05); however seven patients, two in group 1 (1 preschool child), three in group 2 (2 preschool children) and two in the control group (two prepubertal boys aged 8.5 and 9.5 year), during treatment, showed a growth velocity standard deviation score below the third percentile. CONCLUSION: A 6-month treatment with inhaled BUD and FP does not induce body fat accumulation; however, in a few preschool children the treatment was associated with growth velocity below the third percentile. Our results suggest the need for constant monitoring of growth in all asthmatic children on chronic treatment with inhaled steroids. Further studies devoted to the effects of inhaled steroids use in preschool children are needed.

Administration, Inhalation↗

Childhood obesity: results of a multicenter study of obesity treatment in Italy.

The prevalence of pediatric obesity is increasing and many patients are followed by specialized centers or private doctors. The aim of this study was to verify short- and medium term results of a therapeutic approach based on nutritional intervention in a large pediatric population: 1383 subjects (695 females, 688 males) aged 10.1 +/- 2.7 yr, followed in 11 pediatric departments in Italy. No difference was found between centers in age, height, weight, BMI and IBW. The drop-out rate after the first visit was 30.2% (58.1% IBW > 140%) in females and 34.2% (70.7% IBW > 140%) in males. After two years of follow-up only 9.7% of females and 6.4% of males remained on treatment. Of these patients only 7.3% of females and 6.4% of males had IBW < 120%. These data show that an approach based on nutritional intervention alone is not sufficient for long-term treatment of pediatric obesity. Only an approach started early and involving the family can produce permanent results.

Adolescent↗

[Prader-Willi syndrome].

Prader-Willi syndrome (PWS) is the most frequent cause of secondary obesity, characterized by neonatal hypotonia, dysmorphic facies, acromicria, hypogonadism, stunted growth, obesity, behavioural disturbances and cognitive impairment. Clinical diagnosis is confirmed by alteration of imprinted genes on the proximal long arm of chromosome 15 (15q11-13) for deletion, translocation, uniparental disomy for maternal chromosome 15 or imprinting center defect. Methylation test is the most reliable test for diagnosis. This issue explains diagnostic tests, clinical, metabolic, endocrinological features, and the most frequent complications observed in this syndrome. Precocious diagnosis and multidisciplinary approach allow in these patients to prevent the severe obesity and linked complications.

Diagnosis, Differential↗

Bone mineralization and body composition in young patients with celiac disease.

OBJECTIVES: The aim of the study was to establish whether body composition in patients with celiac disease is normal and influenced by the age at diagnosis or by the duration of the gluten free diet. METHODS: A group of 66 children with celiac disease and 76 healthy controls were studied by dual energy x-ray absorptiometry. We compared celiac patients with the control group, and within the celiac disease group, we compared patients with different age at diagnosis (28 diagnosed in the first 24 months vs 38 later) and with different duration of the diet (16 in gluten free diet for less than 12 months, 11 for less than 24 months, and 39 for more than 24 months). RESULTS: Overall we did not find any significant difference in body composition between overall celiac patients and controls. However the fat mass, the body mass index, and the spine bone mineral density values in late diagnosed celiac patients were significantly lower than in early diagnosed patients (significance values were p < 0.009; p < 0.002; p < 0.002, respectively). Patients on diet for less than 12 months showed significantly lower bone mineral content and density than those on diet for more than 24 months (significance values were, respectively, p < 0.011 and p < 0.022). Spine mineral density was the only parameter significantly influenced both by age at diagnosis (p < 0.03) and duration of gluten free diet (p < 0.008). CONCLUSIONS: Only an early diagnosis of celiac disease in pediatric age and a strict gluten free diet, lasting more than 12 months, allow celiac patients to reach a normal mineralization.

Absorptiometry, Photon↗

A "hot spot" in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates.

Pit-1 is a member of the POU family of transcription factors regulating mammalian development. Pit-1 is thought to be the major cell-specific activator of both the somatotrophs and lactotrophs in the anterior pituitary. When bound to DNA, Pit-1 activates GH and PRL gene expression. Pit-1 is also important for hormonal regulation of the PRL and TSH-beta genes by TRH and cAMP. We studied two unrelated patients with GH, PRL, and TSH deficiencies. Both patients have the same point mutation in the POU homeodomain of the Pit-1 gene (R271W). Patient 1 was studied as an adult and had combined deficiencies of GH, PRL, and TSH. Patient 2, who was studied in infancy, also had GH and PRL deficiencies, but had low thyroid hormone levels with a measurable basal level of TSH and a delayed response of TSH to TRH. Consequently, the current description of Pit-1 gene mutations leading to complete GH, PRL, and TSH deficiencies needs to be expanded to GH and PRL deficiencies associated with a compromise of the thyrotroph's ability to synthesize TSH.

Amino Acid Sequence↗

The influence of dietary education in diabetic children.

The aim of our study was to evaluate the efficacy of dietary education in inducing modification of the diet and to measure biochemical parameters in 36 children and adolescents with IDDM. At the beginning of the study, each patient was evaluated as follows: food intake (by the method of the 24-h recall for 3 days), auxological parameters, biochemical parameters. Thereafter a program of nutritional guidelines was provided. Subsequent meetings took place at 1-month-intervals. The study ended 3 months later, when all the parameters were completely revalued. We observed improved nutrition in our patients both in terms of total caloric intake and calorie distribution. In particular there was an increase in carbohydrates and a reduction in lipids, reaching the percentage levels recently recommended. With a reduction in lipid intake a significant decrease in LDL cholesterol and a significant increase in HDL cholesterol were noticed in our patients. These modifications are very important for the prevention of arteriosclerosis and thus macrovascular disease. We maintain that dietary education plays an important role in helping children and adolescents with IDDM to follow a suitable diet.

Adolescent↗

Evidence for the presence of the pituitary insulin secretagogue beta-cell trophin in human plasma.

It has been demonstrated that the insulin secretagogue beta-cell-trophin, ACTH(22-39), is present in human plasma. The hormone, separated from plasma by affinity chromatography on a corticotrophin-like intermediate-lobe peptide antibody column, behaves similarly to synthetic beta-cell-trophin on a gel filtration column and on reverse-phase high-performance liquid chromatography. Sufficient amounts of the hormone were isolated from the plasma of two patients with Nelson's syndrome to demonstrate its biological activity on the perfused rat pancreas.

Adrenocorticotropic Hormone↗

Urinary hydroxylysine and hydroxylysyl glycosides excretion in patients with Turner's syndrome.

Urinary excretion of 5-hydroxylysine (Hyl) and its two glycosides, a monoglycoside (Gal-Hyl) and a diglycoside (Glc-Gal-Hyl), and the ratio of the diglycoside to monoglycoside have been studied in 30 patients with Turner's syndrome and in 38 healthy controls. In patients, the urinary excretion of Hyl and its diglycoside was similar to that obtained in the controls, while the excretion of the monoglycoside was significantly lower before the age of 17 years. As a consequence, between 6 and 17 years of age the Glc-Gal-Hyl/Gal-Hyl ratio is significantly higher in patients with Turner's syndrome than in normal subjects. The results of our study seem to indicate a disturbance in the turnover of collagen in Turner's syndrome.

Adolescent↗