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Biomedical subjects

S Di Maio

Publications and source records attributed to S Di Maio.

At least 19 recordsLinked to original sources
PubMed1996

High prevalence of overweight in a children population living in Naples (Italy).

OBJECTIVE: The present study estimates the prevalence of obesity among ten-year old children living in Southern Italy and compares it with the prevalence of obesity among children living in other western countries. METHODS: 110 children attending the 4th grade of a randomly selected primary school in Naples were studies in the 1992. Eighty-eight per cent of the total school population was examined: 52 girls, 58 boys: mean age = 9.6 years (SEM = +/- 0.10). Each child underwent medical examination and anthropometric assessment. The percentile values for Body Mass Index (BMI = weight/height 2) and triceps skinfolds thickness (mm) were calculated and compared to that of children of the same age and sex living in other countries, chosen from comparable studies available in the literature. RESULTS: Percentile values for triceps skinfolds thickness in Neapolitan children are similar to those reported in the other populations considered for comparison, however BMI values were different. Children in Naples have the highest BMI values at the 50th, 75th, 90th and 95th percentile. The prevalence of obesity among Neapolitan children was estimated using as a cut-off, the BMI value at the 90th percentile of each population considered for the comparison and calculating the rate ratio with 95% confidence interval (95% CI). The prevalence of obesity in Naples among girls, was 5.2 times (3.8-6.6 95% CI) as high as in France, 3.3 times (2.2-4.4) as high as in Holland, 1.7 times (0.9-2.5) as high as in USA, 2.5 times (1.7-3.4) as high as in Milan (Northern Italy); among boys it was 4.3 times (3.0-5.6) as high as in France, 4.0 times (2.7-5.2) as high as in Holland, 2.1 times (1.2-3.0) as high as in the USA, 2.5 times (1.7-3.4) as high as in Milan.

Body Mass Index↗
PubMed1995

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

We report on the clinical and molecular characterization of 3 sibs with X-linked ichthyosis and variable expression of Kallmann syndrome. One of the affected brothers had mild hyposmia and showed normal pubertal progression. However, we demonstrated the same partial deletion of the X-linked Kallmann gene, sparing the first exon in the mildly affected patient as well as in one of his severely affected brothers.

Adolescent↗
PubMed1995

Prognostic factors in the intellectual development at 7 years of age in children with congenital hypothyroidism.

The influence of the initial L-T4 dose and some other factors on the intellectual development was evaluated at 7 years of age in 47 congenitally hypothyroid children detected by the regional screening program. All patients were initially treated with 25 micrograms LT4/kg/day that represented a mean replacement dose of 6.8 +/- 1.3 micrograms/kg. Despite the "low" initial dose mean IQ at 7 years resulted within normal range (96 +/- 9). Twenty-eight patients initially treated with 6.0 +/- 0.6 micrograms L-T4/kg/day had a mean IQ (96 +/- 9) which was not different with respect to 19 patients (IQ 94 +/- 7) treated with a significantly higher L-T4 dose (8.1 +/- 0.9 micrograms/kg/day; p < 0.0001). The initial L-T4, dose did not correlate with IQ at 7 years whereas a significant correlation was found between IQ and serum T4 concentration at diagnosis (r = 0.35; p < 0.01) regardless of the fact that serum T4 concentration normalized after the first 2 months of therapy in both groups. Twenty-three patients whose serum T4 at diagnosis was < 2 micrograms/dl (1.0 +/- 0.5) had a mean IQ at 7 years (92 +/- 9) which was significantly lower than the 24 patients (IQ 98 +/- 7; p < 0.02) whose serum T4 was > 2 micrograms/dl (5.7 +/- 2.4; p < 0.001). The present findings suggest that the severity of neonatal hypothyroidism is an important factor in determining subsequent intellectual development of congenitally hypothyroid children.

Child↗
PubMed1994

Impairment of T-cell growth-promoting lymphokines in human insulin-dependent diabetes mellitus.

T-cell growth factor (TCGF) activity was studied in phytohemagglutinin (PHA)-stimulated peripheral blood mononuclear cells (PBMC) from 10 type-1 diabetic patients who had been diagnosed within the previous 12 months (group A), from 9 diabetic patients in whom the duration of disease was more than 1 year (group B) and from 12 healthy controls (group C). The effects of indomethacin on PHA-induced TCGF activity and the effects of adherent cells (macrophages) from group A and group C on TCGF production of normal group-matched non-adherent cells (lymphocytes) were also studied. TCGF activity was assayed on TCGF-dependent blast cells and calculated as a stimulation index (SI). TCGF activity in group A (SI 0.86 +/- 0.8) was significantly different from that in group B (SI 1.75 +/- 1.02; P = 0.037) and in group C (SI 1.91 +/- 1.29; P = 0.023). Following the addition of indomethacin, TCGF SI was 1.35 +/- 0.74 in group A, 1.85 +/- 0.73 in group B and 2.06 +/- 1.19 in group C. The responses to indomethacin were found to correlate with the basal TCGF activity in all subjects (r = -0.48; P = 0.006) independently of the disease process studied or its duration. No correlation was found between TCGF activity and parameters of metabolic control (HBA1c and fructosamine). Interestingly, a significant inverse correlation was found between TCGF activity and the required dose of insulin only in group A (r = -0.66; P < 0.05). Adherent cells from diabetic patients were found not to inhibit TCGF production.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1994

Familial and environmental influences on body composition and body fat distribution in childhood in southern Italy.

The aim of this paper was to evaluate the factors affecting body fat excess and distribution in prepubertal age. A cross-sectional survey was carried out on children attending the 4th grade of a primary school in Naples. Eighty-eight per cent of the total sample was examined: 52 girls, 58 boys; mean age = 9.6 yrs (s.e. +/- 0.10). Each child underwent a medical examination, anthropometric measurements and bio-impedance analysis of body composition. The parents were asked to fill in a questionnaire that included demographic data, family history, parent's weight and height, child's perinatal history and his or her involvement in sports activities. Data were analyzed by multiple linear regression. The results showed a direct correlation between parental BMI and children's anthropometric measurements: the children's BMI correlated with the fathers' (P = 0.02) and mothers' BMI (P = 0.027); the children's waist/hip ratio correlated with the fathers' BMI (P = 0.07); the children's subscapular skinfolds correlated with the father's (P = 0.07) and mothers' BMI (P = 0.02); the children's triceps skinfolds correlated with the fathers' BMI (P = 0.004). Among congenital factors, sex was shown to be correlated with the children's waist/hip ratio (P = 0.05) with a lower ratio in the female, indicating a sex influence on body fat distribution even in prepubertal age. The children's BMI correlated with their waist/hip ratio (P = 0.001). Children's systolic blood pressure showed a positive correlation with triceps (P = 0.04) and subscapular (P = 0.05) skinfolds thickness % FAT-PLI (P = 0.02).(ABSTRACT TRUNCATED AT 250 WORDS)

Adipose Tissue↗
PubMed1993

[Determinants of body fat in prepubertal age].

In order to evaluate the factors affecting body fat excess and distribution, we have studied children attending the 4th grade of a primary school randomly selected in Naples. 52 girls, 58 boys; mean age = 9.6 years (SE +/- 0.1) were examined. Among the familial factors assessed, a correlation between parental BMI and child's anthropometry was found. Among congenital factors, sex correlates with the children's waist/hip ratio ("t" = -2.07; p = 0.05). Moreover the girl's percent body fat was higher. These two findings suggest the expression of sexual characters in prepubertal age. Systolic blood pressure showed a positive correlation with children's percent body fat ("t" = 2.43; p = 0.016) and subscapular skinfold thickness ("t" = 1.19; p = 0.05), suggesting an influence of these factors on blood pressure level since this age. No correlation was found between children's BMI and weight at birth, family history of diabetes, hypertension or hyperlipidemia. Among environmental factors, only the mothers weight gain during pregnancy ("t" = -2.21; p = 0.03) and breast feeding ("t" = -2.07; p = 0.05) correlated with the children's BMI. The correlation between children's BMI and waist/hip ratio ("t" = 4.64; p = 0.0001), was not confirmed in children who exercise, suggesting a beneficial action of physical activity on body fat distribution. The identification in different populations of factors associated with childhood obesity is important for prevention planning.

Animals↗
PubMed1991

Prognostic signs in the evolution of premature thelarche by discriminant analysis.

Since premature thelarche (PT) can be a first sign of precocious puberty (PP), the aim of our study was to identify simple items in the course of the first 6 months of follow-up that could help predict if PT would evolve to PP. Thirty-two girls with PT were studied. First evaluation included bone age (BA), basal estradiol, FSH, LH and prolactin. GnRH was performed in 15 subjects and BA was checked at 6 month intervals in 30. Based on clinical outcome after a mean follow-up of 33.4 +/- 16.5 (SD) months, patients were divided into 2 groups: Group I (G-I) included subjects whose breast development either remained unchanged, increased or regressed; Group II (G-II) included subjects who progressed to PP. The multivariate combination of the items which was able to best discriminate between the two groups was chosen in predicting the evolution of PT. The items considered included four variables available at the time of diagnosis [chronological (CA) at onset less than 3 years, basal FSH, basal LH and BA/CA ratio] and two additional variables after a 6-month follow-up (delta BA/delta CA and growth velocity); 88% of G-I and 14% of G-II had CA less than 3 yr. Basal FSH levels were elevated in both G-I (7.6 +/- 3.0 mIU/ml) and G-II (12.1 +/- 4.1) with respect to controls (2.6 +/- 1.2); however, approximately 20% of G-I had low FSH levels. Basal LH levels were consistently higher in G-II (8.0 +/- 1.3 mIU/ml) than in G-I (2.9 +/- 1.5) or controls (2.8 +/- 1.2). Although initial BA was advanced (greater than 2SD) in 21% of G-I and in all of G-II, an acceleration of BA was seen only in G-II. The mean growth velocity of G-I (44.1 +/- 31.5%) was significantly less than G-II (92 +/- 32%; p less than 0.0025). With the help of the discriminant equations derived from data obtained at diagnosis and during the first 6 months of follow-up, all subjects with isolated premature thelarche could be sharply distinguished from those who subsequently progressed to precocious puberty.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1991

A case of Parinaud's syndrome in a boy with delayed puberty.

The authors describe a case of Parinaud's syndrome in a 14-year-old boy with delayed puberty. The neurological examination and the neuroradiological work-up excluded the presence of cerebral pathological processes except for a pituitary microadenoma. As the sole presence of the microadenoma cannot justify gonadotropin deficiency, the authors in this case favor a form of isolated gonadotropin deficiency, and they suggest that the elevation paralysis can be put in the range of median line defects, such as labiopalatoschisis and hypoplasia of the olfactory bulbs, frequently associated with isolated hypogonadotropic hypogonadism.

Adenoma↗
PubMed1988

Martsolf's syndrome in a non-Jewish boy.

Martsolf's syndrome has been described in Jewish people. We describe a patient of non-Jewish ancestry who has minor differences from other patients. The possible pattern of inheritance is discussed.

Abnormalities, Multiple↗
PubMed1986

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.

We report a large Italian pedigree in which five out of six males are affected by a syndrome, following an X-linked inheritance pattern, characterized by ichthyosis, hypogonadotropic hypogonadism, and anosmia. The concurrence of features of X-linked ichthyosis (XLI) with those of Kallmann syndrome, another disease often inherited as an X-linked trait, prompted us to perform biochemical, cytogenetic, and molecular studies in relation to the short arm of the X chromosome (Xp). Steroid sulphatase (STS) activity was found to be completely deficient in all affected members of the family. Prometaphase chromosome analyses of two obligate heterozygous women and one affected male showed normal karyotypes. Xg blood group antigen analysis and molecular studies employing cloned DNA sequences from the distal segment of the Xp (probes RC8, 782, dic56, and M1A), did not provide evidence for deletions or rearrangements of the X chromosome. The linkage analysis showed no crossovers between the disease, Xg, and DXS143, the locus defined by probe dic56, thus suggesting the possibility of a linkage between these two markers of the distal segment of Xp and the X-linked ichthyosis, hypogonadism, and anosmia syndrome.

Adolescent↗
PubMed1982

Pyruvate kinase deficiency: characterization of two new genetic variants.

Pyruvate kinase (PK) has been purified from the red blood cells of two sisters who had suffered severe chronic non-spherocytic haemolytic anaemia since infancy, and of one patient who had haemolytic anaemia during pregnancy. The two sisters showed remarkable clinical improvement following splenectomy. The enzyme from their red cells was found to exhibit low activity (about 25% of normal) in crude haemolysates, low affinity for the substrate, phosphoenol pyruvate (PEP), and high sensitivity to fructose-1,6-diphosphate (FDP) activation. This PK differs from previously reported variants and it is provisionally designated PK 'Torre Annunziata'. The enzyme from the other patient had near-normal activity in crude haemolysates, slight changes in kinetics with respect to the substrate, PEP, and with respect to the effects of FDP, ATP and pH, and a markedly reduced thermostability. This PK also differs from previously reported variants and it is provisionally designated PK 'Torre del Greco'. During the course of this study an improved method for purification of PK using Cibacron blue sepharose has been developed.

Adult↗