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Journal of Genetics 04/2012; 88(1):105-108. · 1.09 Impact Factor
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ABSTRACT: Obesity is often associated with increased serum alanine aminotransferase (ALT), and elevation of ALT is a marker of non-alcoholic fatty liver disease which is caused in part by insulin resistance, the essential characteristic of metabolic syndrome (MS). We evaluated the prevalence of MS in prepubertal obese children and the usefulness of ALT as an MS marker.
120 obese children (6.3 ± 1.6 years old) and 50 normal-weight controls (5.3 ± 2.0 years old) were included. Patients were classified as having MS if they met ≥ 3 of the following criteria: body mass index >97th percentile, triglycerides >95th percentile, high-density lipoprotein cholesterol <5th percentile, systolic (SBP) and/or diastolic (DBP) blood pressure >95th percentile, fasting blood glucose 100 mg/dl and/or impaired insulin sensitivity with homeostasis model assessment for insulin resistance >97.5th percentile. ALT levels were also evaluated.
MS occurred in 16.6% of obese patients. Significant differences were present in body mass index (p < 0.001), SBP (p = 0.002) and DBP (p < 0.001) between non-MS and MS obese patients; laboratory data, except total cholesterol, were significantly different in the two groups. The strongest association with MS (as evaluated by the c-statistic) was found for insulin and homeostasis model assessment for insulin resistance (c = 0.92 and 0.91, respectively); also, DBP and SBP showed good discrimination ability (c = 0.73 and 0.72, respectively). ALT levels in the MS group were higher than in the non-MS group (p = 0.02) and associated with MS (p = 0.001; c = 0.69).
MS is a consequence of obesity already in very young children. Also, pathological serum ALT levels were significantly correlated with MS and might be considered a marker for defining MS, though confirmation in a longitudinal study is called for.
Annals of Nutrition and Metabolism 09/2011; 58(4):307-14. · 2.26 Impact Factor
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ABSTRACT: The aim of this study was to determine, in patients with Turner syndrome (TS), the prevalence of thrombophilic disorders correlating with a higher risk of venous thromboembolism (VTE), to evaluate if thrombophilia is associated with the genetic features of these patients and whether screening before hormone replacement therapy (HRT) is advisable.
We examined 82 TS patients. In all patients we analyzed activated factor VIII:C, fibrinogen, antithrombin (AT), protein C (PC), protein S (PS), activated PC resistance, and homocysteine. For every patient, an investigation for mutations in prothrombin G20210A, factor V R506Q, methylenetetrahydropholate reductase (MTHFR) C 677T and A1298C was conducted.
Low values of PC in 3 patients (3.70%), low values of PS in 12 (14.81%), and hyperhomocysteinemia in 4 (4.87%) were found; 52 girls (64.2%) presented hyperfibrinogenemia. Three patients were heterozygous for the prothrombin G20210A allele mutation (3.66%) and the factor V mutation was present in 4 patients (4.88%). No TS patient had a homozygous mutation. Mutations in the MTHFR gene were present in 62 girls, in 17 patients (20.7%) they were homozygous and in 45 patients (54.88%) heterozygous.
Considering the increased risks with the association between VTE and the higher prevalence of PC and PS deficiencies, TT genotype mutations and high level of fibrinogen, it is advisable to perform a complete thrombophilia screening in TS patients before starting HRT.
Journal of endocrinological investigation 05/2011; 34(9):676-9. · 1.57 Impact Factor
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ABSTRACT: Turner syndrome (TS) is a sex chromosome abnormality in females characterized by gonadal dysgenesis, short stature and skeletal malformations like kyphosis and scoliosis.
To evaluate the prevalence of scoliosis and its incidence over 4 year follow-up.
Consists in two parts: cross sectional study and longitudinal study.
Outpatient.
Forty-nine TS assessed at the Pediatric Outpatients Clinic.
Clinical and radiological evaluation of spine.
Cross sectional study: at baseline an high prevalence of minor scoliosis was observed (59%, 95% CI 44-73). The prevalence increased with age (trend test P=0.01). Patients with scoliosis were more frequently on GH therapy (69% vs. 35%, P=0.023). At multivariable analysis (including age, height and GH therapy), height was the only independent correlate of scoliosis. Longitudinal study: of the 20 cases without scoliosis at baseline, 9 were diagnosed with new scoliosis (classified as minor ) after 4 years (incidence of 45% , 95% CI 23-68). We didn't found any predictor of new scoliosis; patients who developed scoliosis 4 years later were older and taller at baseline.
TS have a higher risk to develop scoliosis and the age at risk is protracted further with respect to normal subjects. This risk appears influenced by the height of the patient and, indirectly, by the GH therapy. Clinical rehabilitation impact. In TS is necessary a prolonged time of observation (until age twenty) for identifying scoliosis and beginning a rehabilitation program.
European journal of physical and rehabilitation medicine 04/2011; 47(3):447-53. · 1.40 Impact Factor
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ABSTRACT: To determine thyroid volume and structure by ultrasound (US) in patients with Turner syndrome (TS) compared to healthy controls; to evaluate the frequency and characteristics of autoimmune thyroid disease (ATD) and its association with clinical and auxological parameters.
73 patients and 93 height-matched healthy female controls in the same age range were included in the study.
Thirty-two TS patients (43.8%) presented ATD. They had a larger body mass index (BMI) and presented the 45,X karyotype more frequently than those without. They were older, with a higher prevalence of lymphoedema at birth and pterygium colli without statistical significance. Thyroid volume was 20% larger in the presence of ATD (p=0.037). A dyshomogeneous thyroid structure was observed in all patients with ATD and less frequently in those without (p=0.016). Dyshomogeneity in TS without ATD was also associated with older age (p<0.001), larger BMI (p=0.003) and larger thyroid volume (p=0.006). Six TS patients presented solitary thyroid nodules (5 benign nodules). We observed a significant interaction between diagnosis and height (p=0.035) and age (p=0.047), indicating that both age and height conditioned the observed differences in thyroid volume.
Most TS patients presented ATD with a normal thyroid function or subclinical hypothyroidism, without goiter. Dyshomogeneous thyroid structure was also observed in TS patients without ATD. In TS, the evaluation of thyroid volume according to chronological age does not seem to be efficient because of a link between height and thyroid volume. The prevalence of nodular thyroid disease is similar to that observed in the general population.
Journal of endocrinological investigation 04/2011; 34(4):260-4. · 1.57 Impact Factor
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Journal of Genetics 05/2009; 88(1):105-8. · 1.09 Impact Factor
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ABSTRACT: Pathological breast conditions are rare in childhood and adolescence. The spectrum of breast disease in pediatric patients is different from that in adults and most lesions are benign. Fibroadenomas are the most common type of breast tumor in adolescent girls and young women. These lesions occasionally develop into very large masses, particularly in adolescent girls. Such masses are called solitary giant juvenile fibroadenomas, and local recurrence is unusual. We report here a case of recurrent juvenile giant breast fibroadenoma in a girl with Turner's syndrome.
Journal of pediatric endocrinology & metabolism: JPEM 04/2009; 22(3):281-3. · 0.88 Impact Factor
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ABSTRACT: To determine the utility of breast ultrasono- graphy in the diagnostic work-up of precocious puberty and to create a prognostic index for early differentiation between non/slowly progressive or transient forms of precocious puberty and rapidly progressive central precocious puberty.
We recruited consecutively 60 girls with precocious pubertal development. In all the girls we evaluated Tanner stage, basal and gonadotropin-releasing hormone (GnRH)-stimulated follicle stimulating hormone (FSH) and luteinizing hormone (LH) levels, estradiol (E2) levels, and bone age, and performed pelvis and breast ultrasound examinations. Logistic regression models were fitted to identify possible diagnostic factors for rapidly progressive central precocious puberty and non/slowly progressive or transient forms.
Ultrasound breast volume>or=0.85 cm3 was associated with rapidly progressive central precocious puberty (P=0.01). Uterine volume>or=5 cm3, LH peak>or=7 IU/L, presence of an endometrial echo, E2 levels>or=50 pmol/L and bone age>2 SD above expected were significantly associated with rapidly progressive central precocious puberty. A multivariate model including uterine volume, E2 level, bone age, presence of an endometrial echo and ultrasound breast volume revealed a strong ability to classify rapidly progressive forms. From this multivariate analysis a prognostic index for rapidly progressive central precocious puberty was defined.
Ultrasound imaging allows better definition of the breast and the maturation stage than does use of Tanner's stages. Ultrasound breast volume>or=0.85 cm3 is an independent predicting factor of rapidly progressive central precocious puberty. A prognostic index that was created from a multivariate model including uterine volume, E2 level, presence of an endometrial echo, bone age and ultrasonographically determined breast volume, may help in the early differentiation between rapidly progressive central precocious puberty and non/slowly progressive or transient forms.
Ultrasound in Obstetrics and Gynecology 12/2008; 33(1):85-91. · 3.01 Impact Factor
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British Journal of Dermatology 10/2008; 159(5):1209-11. · 3.67 Impact Factor
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ABSTRACT: Childhood obesity is increasingly common and is associated with health problems; in particular, obesity plays a central role in the metabolic syndrome (MS). We estimated the prevalence of MS in Caucasian children and adolescents with varying degrees of obesity.
We studied 191 obese [body mass index (BMI) > 97th percentile] children and adolescents. Obesity was stratified on the basis of a threshold BMI z-score and subjects were classified as moderately (z-score 2-2.5) or severely obese (z-score > 2.5). Seventy-six, nonobese subjects were recruited into a comparison group. Thirty-one of them were of normal weight (BMI < 75th percentile) and 45 overweight (BMI 75th-97th percentile). Patients were classified as having MS if they met three or more of the following criteria for age and sex: BMI > 97th percentile, triglyceride levels > 95th percentile, high density lipoprotein (HDL) cholesterol level < 5th percentile, systolic or diastolic blood pressure > 95th percentile and impaired glucose tolerance (blood glucose level: 7.8-11.1 mmol/l at 2 h). Insulin resistance was calculated using the homeostasis model assessment for insulin resistance (HOMA-IR) and impaired insulin sensitivity was defined as a HOMA-IR > or = 2.5 in prepubertal patients and HOMA-IR > 4 in pubertal subjects.
The overall prevalence of MS was 13.9% and was present in 12.0% of moderately obese and 31.1% of severely obese subjects; no overweight or normal weight subjects met the criteria for MS. The rate of the MS increased progressively with increasing BMI categories (P < 0.001). Severely obese patients had a threefold increased risk with respect to moderately obese patients.
The prevalence of the MS is higher in obese as opposed to nonobese subjects and increases with severity of obesity.
Clinical Endocrinology 06/2008; 68(6):868-72. · 3.17 Impact Factor
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ABSTRACT: The objective of the study was to evaluate the association between infectious diseases and other events pertaining to childhood medical history and type 1 diabetes. A case-control study was carried out, taking as cases 159 type 1 diabetic patients (0-29 years) recorded from 1988 to 2000 within the population registry of the Pavia province (North Italy). As controls 318 non-diabetic subjects were matched by age and sex. A questionnaire was administered by standardised interviewers. Data were analysed by conditional logistic regression. Viral childhood diseases (OR 4.29; 95%CI 1.57-11.74) and bottle feeding (OR 1.83; 95%CI 1.08-3.09) were directly correlated to type 1 diabetes; an inverse correlation was found for vitamin D administration during lactation (0-14 years) (OR 0.31; 95%CI 0.11-0.86) and for history of scarlet fever in both sexes and age groups (OR 0.19; 95%CI 0.08-0.46). Most associations of the studied variables confirm already known findings. The significant inverse correlation of type 1 diabetes with scarlet fever history is a peculiar finding, the meaning of which is still obscure, although it has been recently described that streptococcal A infections are regulated by HLA class II alleles.
Acta Diabetologica 04/2007; 44(1):14-9. · 2.78 Impact Factor
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ABSTRACT: The main clinical feature of Turner syndrome (TS) is growth failure, with a mean spontaneous adult height ranging between 136 and 147 cm, according to the specific curves of various populations. Though a classical deficiency of GH has not been generally demonstrated, GH has been administered since 1980 in trials, using replacement doses just initially, with a subsequent trend to increase it. We report the outcome of GH therapy given at the fixed dose of 0.33 mg/kg/week in 60 TS girls observed until adult height; 59 untreated TS girls, matched for auxological, karyotypical characteristics and time of observation, born within the same decade served as controls to evaluate GH efficacy. The calculation of the gain in cm over PAH was performed on specific Italian Turner curves, as well as height evaluation as SD score and growth velocity. The same calculations were made using Lyon references and Tanner standards. The mean CA at the beginning of GH treatment was 10.9 +/- 2.76 yr (range 4.5-15.9). Mean adult height of treated group was 151 +/- 6.1 cm with a gain over the PAH calculated at start of therapy (142.9 +/- 5.3 cm) of 8.2 +/- 3.9 cm. Ns change was observed between the PAH at first observation (143.6 +/- 7.0 cm) and adult height (144.3 +/- 5.6 cm) in the control group. Treatment was well tolerated, no relevant side effects were observed, glucose metabolism resulted no more affected than in untreated subjects, IGF-I levels remained within 2 SD. Our results in 60 TS girls, though the dose remained unchanged throughout the treatment, show a good response, characterized by a striking variability in each patient (mean gain in cm over PAH at adult height of 8.17 +/- 3.9, range 3-21 cm), and significant also in comparison with the control group. As the chronological age at start of therapy ranged between 4.5 to 15.9 yr, the results were further evaluated dividing the patients into two groups, according to the age, < or >11 yr. Thirty girls were <11 yr (mean 8.7 +/- 1.76 yr) and 30 were >11 yr (mean 13.2 +/- 1.4 yr). The gain in cm over the PAH in each group was, respectively, 8.1 +/- 3.4 and 8.2 +/- 4.3 cm without any significant difference between the two groups, showing no negative correlation between the CA at the beginning of GH and the response to treatment.
Journal of endocrinological investigation 05/2005; 28(4):350-6. · 1.57 Impact Factor
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ABSTRACT: Treatment with growth hormone (GH), alone or in combination with oxandrolone, is used in patients affected by Turner syndrome to improve growth velocity and adult height. Since GH interacts with gonadotropins in the stimulation of the human ovary, the aim of our study was to evaluate the possible effects of GH administration on uterine and ovarian characteristics.
We performed pelvic ultrasound assessment in 29 patients with Turner syndrome aged 7.5-16.6 years (19 with 45,X karyotype; 10 with variant karyotypes) before and during treatment with GH alone. Uterine volume and ovarian size and morphology were compared to those of 23 age-matched girls with Turner syndrome not treated with GH. Both patients and controls were divided into prepubertal and pubertal groups. Cross-sectional and longitudinal studies (before and every 6 months during GH treatment for 2 years) were performed.
We observed a significantly higher uterine anteroposterior diameter and volume in younger (< or = 11 years) GH-treated Turner syndrome girls than in those who were untreated. Also visualization and heterogeneous echopattern of the ovaries were significantly more frequent in treated than in untreated Turner syndrome patients, particularly before the age of 11 years. The longitudinal study showed a significant increase in uterine volume, more related to treatment than to age. Spontaneous breast development and menarche were found more frequently in GH-treated Turner syndrome girls.
Growth hormone therapy can have a co-gonadotropin role in patients with Turner syndrome.
Ultrasound in Obstetrics and Gynecology 08/2003; 22(2):172-7. · 3.01 Impact Factor
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ABSTRACT: Ninety children and adolescents with autoimmune thyroid disease were screened for celiac disease. All 90 patients were typed for HLA antigen class I and II and for HLA-DQA1 and DQB1 heterodimers. Celiac disease and DQA1*0501, DQB1*02 were found in 7 (7.8%) patients. The prevalence of celiac disease was 1 of 13. Screening for celiac disease is recommended in children with autoimmune thyroid disease.
Journal of Pediatrics 12/2001; 139(5):738-40. · 4.11 Impact Factor
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Minerva pediatrica 11/2001; 53(5):495-6.
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Minerva pediatrica 11/2001; 53(5):492.
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Minerva pediatrica 11/2001; 53(5):481-2.
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Minerva pediatrica 11/2001; 53(5):499-500.
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ABSTRACT: The success of allogeneic hematopoietic stem cell transplantation from HLA-disparate donors depends on the development of new strategies for graft-versus-host disease prevention able to target specifically donor antihost alloreactivity, while preserving GVL and antiviral immune surveillance. Recent experimental and clinical work has shown the feasibility of an approach based on induction of anergy to host alloantigens through blockade of B7/CD28 costimulatory signal in donor T cells, but data on the impact of this strategy on the recovery of the immune system are still lacking. We devised an ex vivo method for induction of host alloantigen-specific unresponsiveness based on treatment with the B7/CD28 blocking agent CTLA4-Ig associated with CsA. We then proceeded to assess the maintenance of an effective immune response towards viral pathogens and tumor cells after CTLA4-Ig/CsA treatment, by measuring the frequency of CTL precursors directed against CMV- and EBV-infected targets, and against autologous leukemic blasts. We demonstrated that (1) CTLA4-Ig and CsA can act synergistically in inducing a state of unresponsiveness to alloantigens; (2) the number of leukemia-reactive, EBV-specific and CMV-specific CTLp is not impaired by CTLA4-Ig/CsA treatment. Our data provide the first direct in vitro evidence that it is possible to preserve antiviral and antileukemia effector cells after blockade of CD28/B7 interaction during MLR.
Bone Marrow Transplantation 07/2001; 27(12):1263-73. · 3.75 Impact Factor
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ABSTRACT: Increased serum concentrations of liver enzymes are sometimes observed, in the absence of clinical symptoms of liver disease, in patients with Turner syndrome. The purpose of this study was to evaluate, in our Turner patients, serum liver enzyme levels and to find a cause for their increase. In 70 Turner patients, serum AST, ALT, GGT levels were evaluated every 6 months during a period of 0. 8-21.9 years. In patients in whom increased values of liver enzymes were found, serological markers for infectious hepatitis, serum hepatitis C virus RNA and virus genotype, IgG and IgA antibodies to gliadin and endomysium, coeruloplasmin, copper, alpha(1)-antitrypsin, total proteins and electrophoresis, IgG, IgA, IgM, fibrinogen, prothrombin, alkaline phosphatase, creatine kinase and total and direct bilirubin were also determined. Antinuclear, anti-smooth muscle and anti-liver-kidney microsome antibodies together with antithyroglobulin and anti-thyroid peroxidase antibodies were determined in all patients and in 166 age-matched female controls. In 22 patients, increased liver enzymes were observed, not related to karyotype. Follow-up showed that the hepatic disorder did not worsen with the time. Serological markers of hepatitis C virus were positive in three patients. When the serum liver enzyme increase was first observed in the other 19 patients with high enzyme levels (group A), 14 patients had never been submitted to hormonal treatment, 4 were on oestrogen/gestagen treatment and 1 was being treated with both growth hormone and oestrogen. Coeliac disease, alpha(1)-antitrypsin deficiency and Wilson disease were ruled out by appropriate investigations. In 8/19 group A patients, antinuclear and/or anti-smooth muscle antibodies were present versus 6/48 of patients with normal liver enzymes (group B). Thyroid antibodies were found in 8/19 patients in group A and in 13/48 in group B. Weight excess SDS was significantly higher in Turner girls with liver enzyme increase. Ultrasonography, performed in 17 patients of group A, showed mild hepatomegaly in 4 and increased echogenicity with fatty infiltration in 6. CONCLUSION: Hepatic abnormalities in Turner syndrome are not progressive. Oestrogen should not be considered the main cause of increased liver enzymes in Turner syndrome since most of our patients with this finding had not been previously treated with oestrogens. An auto-immune pathogenesis might be considered in some cases, whereas the association with weight excess seems the most frequent cause of liver disorder in Turner syndrome.
European Journal of Pediatrics 04/2000; 159(3):143-8. · 1.88 Impact Factor
