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Biomedical subjects

S Di Maio

Publications and source records attributed to S Di Maio.

At least 37 records · Page 2Linked to original sources
PubMed1998

Central precocious puberty: a single blood sample after gonadotropin-releasing hormone agonist administration in monitoring treatment.

This study was designed to evaluate whether a single blood sample drawn after the home injection of a long-acting gonadotropin-releasing hormone (GnRH) agonist (GnRHa) in patients treated for central precocious puberty (CPP) could be a more simple and inexpensive test with respect to the conventional GnRH stimulating test in assessing adequate suppression of the pituitary-gonadal axis. The response to the first therapeutic injection of the GnRHa triptorelin was studied in 14 newly diagnosed untreated females with CPP. The results were compared with the response that the same patients had to the conventional GnRH stimulation test performed at the time of diagnosis. A significant increase in LH, FSH and E2 levels was observed 12 h after the triptorelin intramuscular injection; serum peak values of LH (70.3 +/- 58.5 IU/l), FSH (44.2 +/- 21.7 IU/l) and E2 (489.7 +/- 263.9 pmol/l) were significantly greater than those obtained with the conventional GnRH test (LH 31.4 +/- 21.7, p = 0.002; FSH 19.8 +/- 10. 7, p = 0.001; E2 83.3 +/- 25, p < 0.001). In particular, the E2 response, 12 h after triptorelin injection, was clearly consistent with gonadal activation compared to the modest E2 increase in response to the GnRH test. Thereafter 22 girls who were already being treated with triptorelin for CPP were evaluated to see whether a single blood sample drawn 12 h after the therapeutic home injection of GnRHa could be informative in assessing adequate suppression of the pituitary-gonadal axis. This response was also compared to the conventional GnRH stimulation test performed 2 days before the therapeutic triptorelin injection. In 7 girls with evidence of pubertal progression, the E2 response following the GnRHa injection (136.3 +/- 44.4 pmol/l) was significantly higher with respect to the response after the GnRH stimulation test (73.0 +/- 0.0; p < 0.02) indicating an inadequate suppression of the pituitary-gonadal axis. The present data suggest that a single blood sample drawn 12 h after the therapeutic home administration of triptorelin provides a simple, comfortable and inexpensive means of monitoring pituitary as well as gonadal function in girls treated for CPP.

Child↗
PubMed1997

Expression of growth hormone receptor by peripheral blood lymphocytes in children: evaluation in clinical conditions of impaired growth.

OBJECTIVE: It is widely accepted that the haematopoietic system is a target of growth hormone action and that GH may act as a lymphokine. The expression of GH receptors (GHR) on human peripheral blood lymphocytes (PBL) has been reported previously in adult donors by dual fluorochrome flow cytometry. The aim of this study was to apply the cytofluorimetric method to the analysis of GHR expression on PBL in various human conditions characterized by different patterns of growth due to age or physiopathological conditions. SUBJECTS AND DESIGN: PBL from 38 normal (control) subjects (7 newborns, 18 prepubertal children, 13 adults) were studied in order to provide age-related physiological data. Twenty-two short children (18 with idiopathic short stature, 4 with Ullrich-Turner syndrome) were studied to determine the expression of GHR in conditions of impaired longitudinal growth which may or may not require GH treatment. METHODS: Analysis was performed using a fluorescein isothiocyanate (FITC)-conjugated antibody specific for the GHR (mAb263) and phycoerythrin (PE)-anti CD2 (T and natural killer cells) or PE-anti CD2 (B cells) in dual fluorochrome flow cytometric assays. Results were expressed as mean fluorescent intensity (MFI). RESULTS: Adult CD2+ coils exhibited a significantly higher GHR expression (MFI 347 +/- 40) than that expressed in children and newborns (MFI 285 +/- 36 and 299 +/- 41, respectively, P < 0.001). A significantly increased expression of GHR on CD2+ cells was also found in short children (MFI 330 +/- 42 vs 285 42- 36, respectively; P < 0.002), whereas Ullrich-Turner syndrome patients did not show any difference from their age and gender matched controls (254 +/- 52 and 288 +/- 40, respectively). A negative relationship was found between GHR expression on CD2+ cells and height-SDS (r - 0.54, P < 0.0001) or BMI (r - 0.4, P < 0.015) in controls and short children, independent of their GH secretory status. Expression of GHR and CD20+ cells was higher than that expressed on CD2+ cells in all subjects. No appreciable differences were found in the MFI levels of GHR expression on CD20+ cells either among the different age group controls or between short children or Ullrich-Turner syndrome patients. A significant downregulation of expression was shown in CD20+ (P < 0.008) but not CD2+ cells after 6 months of GH treatment in 6 short children who had a poor response to GH provocative tests. CONCLUSIONS: GH receptor expression on immune cells in non-syndromic short children appears to be inversely related to the linear growth expression and BMI of the subjects, contrary to findings with hepatic derived serum GHBP. This finding may reflect alternate exon usage in lymphoid cells, and indicates that GH has a distinctive role in the immune system.

Adult↗
PubMed1997

Longitudinal monitoring of bone mineral density in thalassemic patients. Genetic structure and osteoporosis.

The changes in bone mineral density (BMD) measured by single photon absorptiometry (SPA) using two observations conducted over a period of 2 years were examined in 54 thalassemic subjects [30 F(A) and 24 M(B)] with a chronological age ranging from 2.6 to 22.6 years and in 27 sex- and age-matched controls (C). Each category (A, B and C) was divided into three groups according to pubertal signs: pre-pubertal subjects (A1, B1 and C1); peri-pubertal subjects (A2, B2 and C2) and pubertal subjects from the first observation (A3, B3 and C3). Furthermore, each group of patients was divided into sub-groups on the basis of haematological phenotypes, those with a more severe form were called beta0/beta0 while those with other forms were called "others". The most significant findings were the following: the presence of a more severe reduction of the bone mineral density in patients with the beta0/beta0 phenotype than in patients with the "others" phenotype; patients with hypogonadism corresponded to the beta0/beta0 phenotype, while those with spontaneous puberty corresponded to the "others" phenotype. In conclusion, since puberty and the degree of bone mineral density are related to the haematological phenotype, puberty (spontaneous or induced) positively influences the bone mineral density only at the start of puberty, while subsequently, the degree of osteoporosis is the expression of widespread and chronic systemic damage due to the haematological phenotype.

Adolescent↗
PubMed1997

Growth pattern during the first 36 months of life in congenital adrenal hyperplasia (21-hydroxylase deficiency).

The longitudinal growth pattern during the first 36 months of life was studied in 24 patients (17 females) with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by analyzing the mean required daily dose of cortisone with respect to steroid suppression, height and weight growth velocities and bone age maturation. All patients were treated with cortisone acetate and 9-fluorohydrocortisone. The standard deviation score for length (SDS-L), the percentage of ideal body weight (% IBW) and biochemical parameters, 17-hydroxy-progesterone (17-OHP) and androstenedione (A) were evaluated every 3 months; bone age (BA) was evaluated annually. At diagnosis, the female population of patients with respect to the males were younger (chronological age (CA): 15 +/- 14 vs. 45 +/- 16 days, p < 0.005) and had a higher % IBW (91.7 +/- 8.0 vs. 76.3 +/- 16.7%, p < 0.05). At 3 months of age (45 days after initiating treatment) the % IBW in males normalized (97 +/- 19%) and was similar to that found in females (101 +/- 12.8%). No differences were noted in SDS-L at the moment of diagnosis (females-1.1 +/- 1.1 vs. males -0.5 +/- 0.7); however, at 3 months of age the SDS-L in females increased (0.41 +/- 0.88, p < 0.005 vs. diagnosis SDS-L) whereas that of males progressively decreased to reach the nadir at 6 months (-1.41 +/- 0.96). No differences between males and females were noted throughout this time with regard to: (a) A or 17-OHP levels (neither of which were suppressed to 'control values'); (b) the dosage of cortisone received (13.5-17.8 mg/m2/day), and (c) change in BA/CA ratio. In all patients the SDS-target height (TH) correlated with the SDS-L at 2 years (r = 0.74, p < 0.0005) and at 3 years (r = 0.60, p < 0.02) of age. In 12 patients who reached 7 years of age the SDS-L correlated with both SDS-predicted adult height (PAH) (r = 0.75, p < 0.001) and SDS-TH (r = 0.80, p < 0.005). Although the commonly accepted definition of "good control' for patients with CAH has generally included, in addition to adequate suppression of hormone markers, normal growth and skeletal maturation, the present data suggest that normal growth and BA maturation are the most useful parameters to follow and not necessarily strive for hormone suppression. Early diagnosis and replacement therapy using cortisone doses less than those currently recommended allow normal growth within the genetic potential at least for the first 7 years of life.

17-alpha-Hydroxyprogesterone↗
PubMed1997

Assessment of red blood cell indices in growth-hormone-treated children.

In order to evaluate the effect of growth hormone (GH) on erythropoiesis, red blood cell (RBC) indices (hemoglobin, Hb; hematocrit, Ht; RBC count, and mean corpuscular volume, MCV) of 19 GH-deficient children (12 with isolated GH deficiency and 7 with multiple pituitary hormone deficiencies) between 2 months and 15 years of age were compared to those of 57 sex- and age-matched short normal controls before starting treatment with recombinant human GH (rhGH). The RBC indices were expressed as standard deviation score (SDS). Moreover, the RBC indices in the GH-deficient group were analyzed after the first 3 and 6 months of GH treatment and compared to those of 9 Ullrich-Turner syndrome (UTS) patients with GH therapy. Both patients with isolated and those with multiple pituitary hormone deficiencies presented significantly lower values of Hb-SDS (-1.6 +/- 1.0 and -2.0 +/- 1.4, respectively; p = 0.004), Ht-SDS (-1.55 +/- 0.9 and -2.5 +/- 2.1, respectively; p = 0.001) and RBC-SDS (-0.6 +/- 1.6 and -1.2 +/- 0.9, respectively; p = 0.002) when compared to controls (Hb-SDS: -0.6 +/- 1.4; Ht-SDS: -0.1 +/- 1.9; RBC-SDS: 0.17 +/- 1), in the presence of comparable MCV-SDS values. In contrast, RBC indices did not differ between patients with isolated and those with multiple pituitary hormone deficiencies. When the variations of RBC indices were analyzed after 3 and 6 months of rhGH therapy in the 19 GH-deficient children, an increase in the Hb-SDS (p = 0.01), Ht-SDS (p = 0.03) and RBC-SDS was observed, indicating an early stimulatory effect on RBC proliferation in these patients. However, an analysis of the RBC indices in the group of UTS patients did not reveal any significant change after both 3 and 6 months of therapy with rhGh. The increase in Hb, Ht, and RBC count observed during GH treatment confirms the in vivo erythropoietic growth-promoting effects of GH. However, this effect seems to be related only to conditions of GH deficiency. When GH deficiency is associated with multiple pituitary hormone deficiencies there are pathological influences on erythropoiesis which are not corrected until Gh treatment is started, indicating a 'permissive' role of GH in the hematopoietic system.

Adolescent↗
PubMed1997

Pubertal growth, sexual maturation, and final height in children with IDDM. Effects of age at onset and metabolic control.

OBJECTIVE: To evaluate growth and pubertal development in children with IDDM and the influence of the age at onset of IDDM and the degree of metabolic control on final height. RESEARCH DESIGN AND METHODS: We conducted a retrospective evaluation of 62 subjects followed longitudinally both clinically and metabolically from the onset of IDDM until final height was reached. RESULTS: Height at diagnosis was within the normal percentiles in boys (0.5 +/- 1.0 standard deviation score [SDS]) and girls (0.4 +/- 1.0 SDS), but above the genetic target height (-1.0 +/- 0.9 SDS in boys and -1.1 +/- 0.6 SDS in girls; P = 0.0001 for both comparisons). Although a lesser height gain was observed during the ensuing years, the final height reached by boys (-0.4 +/- 1.1 SDS) and girls (-0.4 +/- 0.9 SDS) was higher than the genetic target height. Blunted total pubertal growth was observed both in boys (24.5 +/- 3.6 cm) and girls (20.1 +/- 4.2 cm). The decrease in height gain was independent of the duration of IDDM, the degree of metabolic control, or the insulin requirement. The greater the height at diagnosis, with respect to the genetic target height, the lesser was the subsequent height gain to reach final adult height (r = 0.34, p < 0.01). BMI increased with age as normally occurs in healthy children, independent of the duration of disease and the degree of metabolic control. Pubertal development began and progressed normally both in boys and girls. In boys, a testicular volume of 4 ml was reached at a mean age of 12.1 +/- 0.9 years. In girls, breast enlargement occurred at a mean age of 10.4 +/- 1.2 years and the mean age of menarche was 12.8 +/- 1.4 years. Pubertal development and progression occurred independent of the age at onset of IDDM, the glycemic control, or the insulin requirement during the pubertal period. CONCLUSIONS: Children with IDDM have normal onset of puberty and normal sexual maturation. Even though final height falls within the normal percentiles, the diminished height gain after diagnosis requires further investigation.

Adult↗
PubMed1996

[Definitive body height in constitutional retardation of growth and puberty].

BACKGROUND: Constitutional delay of growth and puberty (CDGP) is a frequent cause of short stature in childhood. Controversial results have been reported on the full achievement of these patients of their target height. PATIENTS AND METHODS: The final adult height of 20 patients with CDGP (11 male and 9 female), who did not received hormonal treatment, was compared with their target height and with the predicted adult height, by the Bayley-Pinneau method obtained before the onset of puberty. RESULTS: A spontaneous improvement of the stature from pre-puberty to adulthood was observed in all patients (from -2.9 +/- 0.7 SDS to -1.3 +/- 0.6 SDS in male and from -2.6 +/- 0.6 SDS to -0.9 +/- 0.3 SDS in female; P < 0.001). Adult height in male (166.4 +/- 4.1 cm) at the mean age of 21 years was very close to the target height (165.7 +/- 3.9 cm) and to the predicted adult height (167.3 +/- 3.1 cm). Also in female, final height (156.6 +/- 2.0 cm) did not differ from target height (153.3 +/- 4.2 cm) and from predicted adult height (155.6 +/- 2.3 cm). CONCLUSIONS: In our experience, patients with CDGP reach their predicted adult height and achieve their genetic potential without medical treatment.

Adolescent↗
PubMed1996

Delayed gastric emptying: a novel gastrointestinal finding in Turner's syndrome.

AIM: To evaluate gastric emptying in girls with Turner's syndrome to detect if gastrointestinal motor dysfunction was present. SUBJECTS: Thirteen girls (mean age 8.1 years) with Turner's syndrome, seven girls with familial short stature (6.1 years), and eight control girls (7.6 years). METHODS: Gastric emptying studies were performed by using 500 microCi of technetium 99m-sulphur colloid bound to a scrambled egg, and scintigraphic measurements were made for 60 to 90 minutes. RESULTS: Mean (SD) percentage retention of gastric isotope was significantly greater in girls with Turner's syndrome than in children with short stature and in controls. Furthermore, in contrast with control subjects, in whom there was an inverse linear relationship between gastric emptying rate and body mass index, in children with Turner's syndrome the delay in gastric emptying was independent of the body mass. CONCLUSIONS: The results of the study suggest that delayed gastric emptying is detectable in girls with Turner's syndrome independent of age, body mass index, karyotype, and growth promoting treatment.

Adolescent↗
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↗