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Background: We evaluated the changes in lifestyle during the COVID-19 pandemic lockdown in a sample of children and adolescents in order to assess any increase in risk factors for the onset of cardiovascular diseases in later ages. Methods: We conducted a cross-sectional study involving 965 parents who completed an online survey about dietary habits and lifestyle during the first lockdown in Italy (from 9 March 2020 to 18 May 2020) and compared their findings with the period before the pandemic. The inclusion criteria were parents (or caregivers) with Italian residency and with children aged between 5 and 18 years. Results: We identified 563 adolescents and 402 children. The mean age was 12.28 years (SD 3.754). The pandemic was associated with an increase in the consumption of high-calorie snack foods. The total amount of food in homes during lockdown compared with before the pandemic increased 50%. Relating to the parent-perceived child weight status, more parents reported obesity in their children after lockdown (+0.6% in the 5–11 age group and +0.2% in the 12–18 age group). We reported a reduction of physical activity, an increase of sedentary lifestyle and sleep habits changes. Conclusion: The COVID-19 pandemic was associated with changes in the lifestyles of children and adolescents; this could cause an increase in the incidence of obesity and of cardiovascular and metabolic diseases in adulthood.

Background Social robots (SRs) have been used for improving anxiety in children in stressful clinical situations, such as during painful procedures. However, no studies have yet been performed to assess their effect in children while waiting for emergency room consultations. Objective This study aims to assess the impact of SRs on managing stress in children waiting for an emergency room procedure through the assessment of salivary cortisol levels. Methods This was an open randomized clinical trial in children attending a pediatric emergency department. Children accessing the emergency room were randomized to 1 of 3 groups: (1) playing with a NAO SR, (2) playing with a study nurse, or (3) waiting with parents. The salivary cortisol levels of all children were measured through a swab. Salivary cortisol levels before and after the intervention were compared in the 3 groups. We calculated the effect size of our interventions through the Cohen d-based effect size correlation (r). Results A total of 109 children aged 3-10 years were enrolled in the study, and 94 (86.2%) had complete data for the analyses. Salivary cortisol levels significantly decreased more in the group exposed to robot interaction than in the other two groups (r=0.75). Cortisol levels decreased more in girls (r=0.92) than in boys (r=0.57). Conclusions SRs are efficacious in decreasing stress in children accessing the emergency room and may be considered a tool for improving emotional perceptions of children and their families in such a critical setting. Trial Registration ClinicalTrials.gov NCT04627909; https://clinicaltrials.gov/ct2/show/study/NCT04627909

Obstructive sleep apnea syndrome (OSAS) in childhood is a complex disease primarily due both to adenotonsillar hypertrophy and pediatric obesity. Notably, inflammation has been recognized as one of the most important shared pathogenic factor between obesity and OSAS resulting in an increased cardiometabolic risk for these patients. To date, evidence is still limited in non-obese population with OSAS. We aimed to evaluate the cardiometabolic risk profile of a pediatric population of non-obese subjects affected by OSAS. A total of 128 school-aged children (mean age 9.70 ± 3.43) diagnosed with OSAS and 213 non-OSAS children (mean age 9.52 ± 3.35) as control group were enrolled. All subjects underwent a complete clinical and biochemical assessment (including white blood cell count (WBC), platelet count (PLT), mean platelet volume (MPV), % of neutrophils (NEU%), C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), serum glucose, aspartate aminotransferase (AST), alanine aminotransferase (ALT), gamma-glutamyl transpeptidase (GGT), uric acid, fasting insulin, iron, ferritin, and transferrin levels). A significant association between inflammation markers (including WBC, PLT, MPV, NEU%, ferritin, CPR, and ESR) and OSAS was found (all p < 0.001). Children with OSAS also showed increased transaminase, glucose, uric acid, and insulin levels (all p < 0.001) compared to healthy controls. Conclusion: Taken together, these findings suggested a worse cardiometabolic profile in non-obese children with OSAS. Given the pivotal pathogenic role of inflammation both for hypoxiemia and metabolic derangements, therapeutic strategies for OSAS might also counteract the increased cardiometabolic risk of these patients, by improving their long-term quality of life.What is Known:• Pediatric OSAS has shown a close relationship with obesity and its cardiometabolic comorbidities.• Inflammation represents the hallmark of both obesity and OSAS.What is New:• Non obese children with OSAS presented with a worse cardiometabolic risk profile.• OSAS treatment might serve as an effective approach also for the increased cardiometabolic risk of these children.

Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children with typical development. All subjects underwent at least 1 overnight polysomnographic recording (PSG). All recorded data obtained from patients and controls were compared. In children with FXS, all PSG-recorded parameters resulted pathological values compared to those obtained from controls, and in FXS children only, we recorded interictal epileptiform discharges (IEDs), as diffuse or focal spikes and sharp waves, usually singles or in brief runs with intermittent or occasional incidence. A possible link between IEDs and alterations in the circadian sleep-wake cycle may suggest a common dysregulation of the balance between inhibitory and excitatory pathways in these patients. The alteration in sleep pattern in children with FXS may negatively impact the neuropsychological and behavioral functioning, adding increasing burn of the disease on the overall management of these patients. In this regard, treating physicians have to early detect sleep disturbances in their patients for tailored management, in order to prevent adjunctive comorbidities.

Background: Children and adolescents affected by type 1 diabetes have an increased risk of being overweight or obese and of suffering from cardiometabolic symptoms. Aims: To retrospectively evaluate the effects of a new complex of polysaccharide macromolecules, Policaptil Gel Retard® (PGR), on auxological and metabolic parameters, glycaemic variability and control parameters in paediatric patients with type 1 diabetes and metabolic syndrome (MetS). Patients and Methods: Data for 27 paediatric patients with a diagnosis of type 1 diabetes in conjunction with obesity and MetS of at least 5 years’ standing were collected and retrospectively studied. Of these, 16 (median age 12.9, range 9.5–15.8 years) had been adjunctively treated with PGR and 11 (median age 12.6, range 9.4–15.6 years) had not been treated with PGR. Auxological, metabolic and glycaemic control and variability parameters and insulin dosing were compared after 6 months in the two groups. Results: PGR significantly reduced BMI standard deviation score (SDS) (p &lt, 0.005), waist SDS (p &lt, 0.005), HbA1c (p &lt, 0.05) and daily mean insulin dose requirement (p &lt, 0.005). A significant improvement was also observed in the metabolic and glycaemic variability parameters of mean daily blood glucose (BG) levels (p &lt, 0.005), SD of daily BG levels (p &lt, 0.0001), mean coefficient of variation (p &lt, 0.05), LBGI (p &lt, 0.0001), HBGI (p &lt, 0.0001), J-index (p &lt, 0.005), total cholesterol (p &lt, 0.005), HDL-cholesterol (p &lt, 0.005) and LDL-cholesterol (p &lt, 0.005) and triglycerides (p &lt, 0.05). Conclusions: PGR produces a good auxological and metabolic response in obese patients with MetS who are affected by type 1 diabetes. It led to a significant reduction in BMI SDS, waist SDS and an improvement in glucose control and variability as well as in other MetS parameters. The use of polysaccharide compounds, especially if associated with appropriate dietary changes, may help achieve treatment targets in type 1 diabetes and reduce the risk that patients develop metabolic syndrome.

OBJECTIVE Although emerging data indicate that obese/overweight children are more likely to develop functional gastrointestinal disorders (FGIDs) than normal-weight peers, contrasting results have been reported. The present observational, case-control study aimed at estimating the prevalence of FGIDs in obese/overweight children compared to normal-weight peers. METHODS Consecutive obese and overweight children aged 4 to 18 years attending the obesity outpatient clinic were enrolled as study cases. Normal-weight children were enrolled as comparison group. All the enrolled patients received a thorough health examination from both a pediatric endocrinologist and gastroenterologist. Moreover, they were asked to fill out the Rome III questionnaire for the diagnosis of FGIDs. Data were analyzed to compare the prevalence of FGIDs between cases and controls. RESULTS Throughout the study period we enrolled 103 cases and 115 controls. No significant age and sex differences were found between the 2 groups. FGIDs were significantly more prevalent in obese/overweight compared to normal-weight children (47.57% vs 17.39%; P

Aim: The aim of this study was to describe the characteristics of Posterior Reversible Encephalopathy Syndrome (PRES) in infants and young children (

Purpose Infantile spasms (IS) represent a severe seizure disorder of infancy and early childhood characterized by epileptic spasms along with hypsarrhythmia often accompanied by intellectual disability. According to the current classification and terminology (3) IS can be categorized as known etiology, formerly known as “symptomatic”, when an underlying cause has been observed prior to the onset of spasms, or of “unknown cause” with “unfavorable” and “favorable” outcome (previously referred as “cryptogenic” or “idiopathic”, respectively). Single reports described children with “unknown cause and favorable outcome” (UC/FO) IS who later developed childhood absence epilepsy (CAE). This study aims to determine the prevalence of CAE following IS. Methods a multicenter retrospective chart review was performed; children with UC/FO IS who subsequently developed CAE during follow-up were identified. Eight Italian pediatric epilepsy centers participated in this study. Results seven out of 24 (29 %) children (3 males) showing a favorable outcome (UC/FO) IS received a second diagnosis of CAE during follow-up. Mean age at IS presentation was 5.8 months (SD ± 0.9). All achieved seizure control of IS at a mean age of 8.5 months (SD ± 1.3) (3 monotherapy, 4 polytherapy). CAE was diagnosed at a mean age of 8.0 years (SD ± 3.0). Six children achieved sustained remission of CAE with valproic acid, whereas 1 child required dual therapy by adding ethosuximide. Conclusion although it is not possible to determine whether the association between UC/FO IS and CAE implies a causality relationship, the later occurrence of CAE in patients with UC/FO IS might support a possible role of thalamo-cortical dysfunction.

Objective The objective of the study was to describe the electroclinical features, seizure semiology, and the long-term evolution of gelastic seizures (GS) not associated with hypothalamic hamartoma (HH). Methods We reviewed video-electroencephalogram (video-EEG) recordings from pediatric patients with GS without HH admitted to 14 Italian epilepsy centers from 1994 to 2013. We collected information about age at onset, seizures semiology, EEG and magnetic resonance imaging (MRI) findings, treatment, and clinical outcome in terms of seizure control after a long-term follow-up. Results A total of 30 pediatric patients were stratified into two groups according to neuroimaging findings: group 1 including 19 children (63.3%) with unremarkable neuroimaging and group 2 including 11 children with structural brain abnormalities (36.7%). At the follow-up, patients of group 1 showed better clinical outcome both in terms of seizure control and use of AED polytherapy. Our patients showed remarkable clinical heterogeneity, including seizure semiology and epilepsy severity. Electroencephalogram recordings showed abnormalities mainly in the frontal, temporal, and frontotemporal regions without relevant differences between the two groups. Overall, carbamazepine showed good efficacy to control GS. Conclusions Patients with nonlesional GS have a more favorable outcome with better drug response, less need of polytherapy, and good long-term prognosis, both in terms of seizure control and EEG findings.

Background Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder, characterized by impaired social communication and restricted and repetitive behaviours, as well as associated features including intellectual disability and impaired sensorimotor function. Despite a growing interest in this devastating disorder for families and young parents, there are no certainties as regards its aetiology, although a significant genetic background is considered to be important. Since there is little information about the social adaptation and quality of life of patients with Autism Spectrum Disorder, we decided to study and evaluate the long-term outcome and quality of life in a sample of children, adolescent and young adults. Methods This is a case study of subjects diagnosed with ASD and followed by clinics and rehabilitation centers in Campania region, in the south of Italy. The study sample was composed by 110 patients (83 males, 27 females), aged between 8.1 and 28.0 years (mean 20.6; median 21.2; SD ± 4.85), recruited in 8 rehabilitation centers of Campania region. A follow-up interview was performed by means of a questionnaire administered to the parents/caregivers of patients at a mean age of their son/daughter of 20.6 years (median 21.2 years; range 8.1-28.0). Results Reports from parents or caregivers show an overall improvement with regard to social and adaptive abilities in a group of teen-agers and young adults with ASD. Major concerns on significant quality of life parameters such as independent living, work experiences, friendships and relationships, accommodation type, recreational activities and personal autonomy were persisting. Conclusions The present study shows an overall improvement with regard to social and adaptive abilities in a large number of subjects. Considerable problems are related to autonomy, employment opportunities and social relationships of these patients. Parents need more recreational activities and continuous support with facilities for families.

Growth hormone deficiency (GHD) is a relatively uncommon and heterogeneous endocrine disorder presenting in childhood with short stature. However, during the neonatal period, the metabolic effects of GHD may to require prompt replacement therapy to avoid possible life-threatening complications. An increasing amount of data suggests the importance of an early diagnosis and treatment of GHD because of its auxological, metabolic, and neurodevelopmental features with respect to the patients diagnosed and treated later in life. The available results show favourable auxological outcomes for patients with GHD diagnosed and treated with r-hGH early in life compared with those from patients with GHD who do not receive this early diagnosis and treatment. Because delayed referral for GHD diagnosis and treatment is still frequent, these results highlight the need for more attention in the diagnosis and treatment of GHD. Despite these very encouraging data regarding metabolic and neurodevelopmental features, further studies are needed to better characterize these findings. Overall, the importance of early diagnosis and treatment of GHD needs to be addressed.

Background The cardiovascular disease risk was assessed in metabolically healthy obese (MHO) children, obese children with metabolic disorders (MUO), and to a control group of normal-weight children using carotid intima-media thickness (CIMT). Methods Participants were 204 obese children (114 M, 90 F), including 162 MUO (74 M, 88 F) and 42 MHO (24 M, 18 F), and 99 gender- and age-matched controls (45 M, 54 F). Glucose, triglycerides, total cholesterol, high-density and low-density lipoprotein cholesterol, and other serum values were determined in peripheral blood. Anthropometric parameters, blood pressure, and a carotid Doppler ultrasound scan were also acquired. The mean CIMT of obese subjects and controls was compared by analysis of variance. Abnormality of even one of the metabolic parameters assessed involved assignation to the MUO group. Mean CIMT was compared in MHO and MUO children. Results Mean CIMT in control children was 402.97 ± 53.18 μm (left carotid artery) and 377.85 ± 52.47 μm (right carotid artery). In MHO and MUO patients CIMT was respectively 453.29 ± 62.04 and 460.17 ± 92.22 μm (left carotid artery) and 446.36 ± 49.21 and 456.30 ± 85.7 μm (right carotid artery). The mean CIMT was not significantly different in MUO and MHO children, whereas it showed a significant difference between both groups of obese children and controls (p

Background The aim of our study is to evaluate if in children with highly positive serology and HLA-DQ2/DQ8 (triple test, TT) and only extra-intestinal symptoms, it is possible to omit performing an intestinal biopsy for celiac disease (CD) diagnosis, as suggested by the new European Society for Pediatric Gastroenterology, Hepatology and Nutrition ESPGHAN guidelines. Methods In this retrospective study a total of 105 patients, suspected of having CD because of extra-intestinal symptoms and showing serum tissue transglutaminase antibody (anti-tTG) and anti-endomysial antibody (EMA) measurements and HLA genotyping, were considered for the final analysis (33 boys and 72 girls; age range 1.5–17.6 years). Results Histological findings confirmed diagnosis of CD in 97 (92.4%) patients. Forty-one patients (39%) showed anti-tTG >10 times normal values, positive EMA and positive HLA-DQ2/DQ8 (positive TT). All of them had a diagnosis of CD, therefore there were no false positive cases. Sixty-four patients were negative for the TT. In eight cases, CD was ruled out and these were considered true negative cases. In the remaining 56 negative TT patients, intestinal biopsy confirmed CD diagnosis and they were considered false negatives. Based on these results, specificity for the TT was 100% and sensitivity was 42.3%. Conclusions On the basis of the present study, diagnosis of CD can be reliably performed without a duodenal biopsy in children with only extra-intestinal symptoms.

Obesity and headache are two highly prevalent diseases both in adults and children and they are associated with a strong personal and social impact. Many studies suggest that obesity is comorbid with headache in general, and migraine in particular and obesity seems to be a risk factor for migraine progression and for migraine frequency both in adults and in children. Research shows that there are multiple areas of overlap between migraine pathophysiology and the central and peripheral pathways regulating feeding: inflammatory mediators such as the calcitonin gene-related protein (CGRP), neurotransmitters such as serotonin, peptides such as orexin and adipocytokines such as adiponectin (ADP) and leptin could explain the common pathogenesis. In this paper we discussed the association between obesity and migraine through the analysis of the most recent studies in children and we reviewed data from literature in order to assess the association between obesity and headache and to clarify the possible common pathogenic mechanisms.

Melkersson–Rosenthal syndrome (MRS) in children is a rare condition, clinically characterised by a triad of synchronous or metachronous symptoms: recurrent peripheral facial palsy, relapsing orofacial oedema, and a fissured tongue; the most recent review published on the topic has reported 30 published patients. The aetiology of this disease is still unclear. However, genetic factors, as well as alterations in immune functions, infections, and allergic reactions have been postulated. We report three children suffering from MRS and perform a literature review of paediatric cases. Taking into account that clinical and laboratoristical criteria for the diagnosis of MRS are lacking, this syndrome is probably underestimated, and we suggest increasing awareness of such a rare syndrome. Close multidisciplinary follow-up of these children with a team composed by paediatricians, neurologists, neuro-ophthalmologists, dermatologists, and otolaryngologists is crucial to guarantee exhaustive management and treatment success, while minimising relapses.

Background Growth hormone (GH) has a strong positive influence on bone, stimulating both bone elongation and increase in size. The aim of the study was to compare the effect of two different GH dosages on final height and bone geometry in two groups of GH-deficient children. Methods We evaluated 121 children (86 m, 35f). Group 1 (77 patients) treated with GH at a mean dose of 0.16 mg/kg/week and group 2 (44 patients) at 0.3 mg/kg/week. Bone geometry was evaluated at final height from a digitalized X-ray of the left hand considering the following parameters: metacarpal index (MI), cross-sectional area (CSA), cortical area (CA) and medullary area (MA). Results At baseline, group 2 was shorter than group 1 (−1.54 vs −1.01 SDS; p

OBJECTIVE It is widely accepted that arginine is a potent GH secretagogue in man, probably acting via inhibition of hypothalamic somatostatin release. Although many other amino acids are known to stimulate GH secretion, their effects and mechanisms of action have not been extensively studied in humans. The aim of the present study was to clarify the effect, if any, of methionine (MET) on GH secretion in children with normal short stature (normal height velocity and IGF-1 >100 μg/l). DESIGN We studied the effect of MET (0.2 g/kg intravenously (i.v.) over 30 min) on both basal and GHRH (1 μg/kg i.v. at 0 min)-induced GH secretion (group A) comparing its effect with that of arginine (ARG) at low and classical doses 0.2 and 0.5 g/kg i.v. over 30 min) (groups B and C). The effect of the combined administration of MET and ARG (0.5 g/kg i.v. over 30 min) (group D) on GH secretion was also studied. PATIENTS Thirty-four children (20 male and 14 female, age 12.8–14.0 years), divided into four groups. MEASUREMENTS Serum GH was measured in duplicate by immunoradiometric assay. RESULTS In group A, MET increased basal GH levels (peak, mean ± SEM 14.6 ± 2.6 vs 2.6 ± 0.6 mU/l; P

The authors report a case of giant fibroadenoma of the breast in a girl of 11 years old. Juvenile or giant fibroadenoma is a rare pathology usually presenting in adolescence, characterized by massive and rapid enlargement of an encapsulated mass. Nowadays there are some preoperative difficulties distinguishing it from cystosarcoma phyllodes which has a benign and malignant form. It is important to differentiate the two pathologies before operation as they have a different therapeutic approach and different follow up. The etiology is believed to be an end-organ hypersensitivity to normal levels of gonadal hormones and the age of presentation is between 10 to 18 years old. Treatment is usually surgical and ranges from simple excision to subcutaneous mastectomy with reconstruction.

The current study was designed to examine the relationship between body fat distribution, as evaluated by anthropometry and magnetic resonance imaging (MRI), and circulating insulin, sex hormone and SHBG levels in obese adolescent girls. Twenty-nine obese adolescent girls, aged 12.6-16.9 years with a mean BMI of 30.51+/-1.86 participated in this study. All girls had breast stage B4-5 and pubic hair stage P4-5. Percent obesity and BMI as indices of being overweight were calculated; the waist-to-hip ratio (WHR) and the waist-to-thigh ratio (WTR) were calculated to obtain two anthropometric indices for the pattern of body fat distribution. The areas of visceral (VAT) and subcutaneous adipose tissue (SAT) were evaluated by MRI at the L4-L5 level. Serum concentrations of total T, DHEAS, 17beta-estradiol, progesterone and SHBG were measured. Plasma glucose and insulin concentrations were evaluated during an oral glucose tolerance test. WHR was the only anthropometric parameter that was significantly associated with the area of VAT. Insulin level showed correlation with both WHR and the area of VAT; no correlation was found between insulin levels and WTR. Both WHR and VAT were negatively correlated with serum DHEAS level and positively correlated with T level. There were strong negative correlations between serum SHBG level and the area of VAT and WHR. Inverse correlation was found between serum SHBG level and insulin. Serum 17beta-estradiol and progesterone levels showed no significant correlation with all the patterns of body fat distribution. SAT was not significantly correlated with both anthropometric parameters and any of the sex hormones evaluated. We can draw two main conclusions. Firstly, in massively obese adolescent girls, the WHR seems to be a good indicator for the accumulation of VAT, and abdominal obesity, rather than adiposity per se, appears to be related to biochemical complications. Secondly, increased upper body adiposity and, in particular, the intra-abdominal fat area are associated with increased insulin levels in massively obese adolescent girls. The associated reductions in SHBG and DHEAS levels represent an early general risk factor for the development of metabolic and cardiovascular diseases in this population, as previously described for obese adult women.

We review the etiology and age incidence of precocious puberty in 438 girls examined between 1988-1998; 428 (97.7%) had central precocious puberty (CPP), the remaining 10 (2.3%) gonadotropin-independent precocious puberty (GIPP) of ovarian origin. The majority of CPP girls (59.6%) were aged between 7-7.9 yr, 22.4% were 6 year olds, and only 18% were under 6 years old. Cranial CT and/or MRI performed in 304/428 girls, showed neurogenic abnormalities in 56/304 (18.4%) CPP girls; 30 (9.9%) were due to previously diagnosed intracranial abnormalities and the remaining 26 (8.5%) were detected at the diagnosis of CPP. The frequency of neurogenic CPP tended to be higher in girls under 4 years of age while the frequency of idiopathic CPP tended to be higher in girls aged between 7-7.9 years, but no statistically significant differences were found. Interestingly, some CNS anomalies either of tumoral or congenital origin were detected at presentation in 7% of the girls aged over 7 years. Other related or coincidental clinical anomalies, mainly due to genetic diseases, were observed in 22/304 (7.2%) patients. History of precocious maternal menarche was found in 12/304 (4%) girls. In conclusion, idiopathic CPP was observed in 74% of the girls in this study. Neurogenic anomalies or other coincidental or related clinical findings were observed in the remaining 26%. The increased frequency of idiopathic CPP in girls aged over 7 years may suggest an early, but otherwise normal onset of puberty in many of these girls as a consequence of the trend towards earlier maturation. Nonetheless, the finding of CNS anomalies also in the older patients, raises the question of whether these patients should undergo a complete diagnostic work-up.

The aim of this study was to evaluate the treatment effects with recombinant human growth hormone (rhGH) in a group of patients after bone marrow transplantation for thalassemia major. At the end of treatment we divided the subjects into two groups according to the outcome of the therapy: responder and nonresponder. Responder group: after 24 months of rhGH administration, growth rate was still significantly higher in respect to start of treatment (P0.0001). Plasma levels of IGF-I rose significantly (P0.003). The serum levels of serum asparate aminotransferase (SGOT) and alanine aminotransferase (SGPT) were higher compared to normal values but improved in non-responder patients. There was no difference in the mean concentration of these parameters before and after treatment (P = NS). Non-responder group: these patients had a worsening of the growth rate during rhGH administration. There was no increase of the IGF-I levels. Single values of transaminase and ferritin levels were higher than in responder patients before and after treatment. There was a significant correlation between IGF-I, SGOT, SGPT and ferritin in all patients before and after therapy. It appears from these data that rhGH administration is worth serious consideration in patients after BMT for thalassemia major presenting impaired growth hormone secretion. This treatment can offer good results only in cases where the normal hepatic synthesis of IGF-I is conserved and where liver damage has not reached irreversible conditions, as we have seen in the responder group.

The effect of growth hormone (GH) treatment in non-GH deficient subjects has been amply studied over the past few years. Although the results of these studies are encouraging, there are still no definitive data since the findings are not comparable due to the different characteristics of the populations examined. In the present study the authors examined the following parameters: stature, height SDS, growth rate, bone age and final height prediction according to Tanner, pubertal stage, before and after treatment with biosynthetic GH at a dose of 1.4 IU/kg of bodyweight for 12 months. The population treated consisted of 10 subjects (5 males and 5 females) aged between 7.3 and 9.5 years old, all prepubertal, with "familial short stature", selected according to the following criteria: stature below the 3rd centile, normal growth rate, normal GH response to stimuli using clonidine and insulin, correlation with parental stature between 25th and 75th centile, bone age correlated to chronological age, absence of other pathologies. After 12 months height SDS moved from -2.75 +/- 0.26 to -2.23 +/- 0.25 (p0.5); the growth rate changed from 5.75 +/- 0.63 to 6.66 +/- 0.56 (p0.05). No abnormal acceleration of bone age as observed: it moved from 8.2 +/- 0.62 to 9.5 +/- 0.72; all subjects continued to be prepubertal. The expected final stature changed from 154 +/- 2.38 to 159 +/- 0.7 (p0.05).(ABSTRACT TRUNCATED AT 250 WORDS)

The large availability of biosynthetic GH suggested the need to define the more accurate way to make diagnosis of GH deficit. Only one stimulation test by clonidine or insulin is not enough to define a GH deficit, and this because often it's possible to get "false negative" tests. The GH is regulated by the influence of GRF and somatostatin that respectively are under the adrenergic and cholinergic control, for this reason we studied how and in which measure a cholinergic agonist (pyridostigmine) acts on GH release during the clonidine and GRF stimulation tests. We studied the area under the curve (AUC), the peak and the mean of the value of GH after clonidine or clonidine and pyridostigmine, and after GRF or GRF and pyridostigmine: we got the following results: 191 +/- 71.33 (AUC), 5.42 +/- 1.68 (peak), 2.44 +/- 0.54 (mean) after clonidine stimulation test; 1048 +/- 442.37 (AUC), 19.5 +/- 10.15 (peak) and 7.96 +/- 3.2 (mean) after clonidine and pyridostigmine (p less than 0.01); 1499 +/- 887 (AUC), 21.1 +/- 11.8 (peak) and 11.11 +/- 6.6 (mean) after GRF test and 2370 +/- 332 (AUC), 31.4 +/- 3.49 (peak) and 18.22 +/- 3.27 (mean) after GRF and pyridostigmine. The pyridostigmine effect on the simulation by clonidine and GRF is able to potentiate the stimulation of GH and allowed a more accurate diagnosis of GH deficit.

Purpose: We examined auxological changes in growth hormone (GH)-treated children in Italy using data from the Italian cohort of the multinational observational Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) of pediatric patients requiring GH treatment. Methods: We studied 711 children (median baseline age 9.6 years). Diagnosis associated with short stature was as determined by the investigator. Height standard deviation score (SDS) was evaluated yearly until final or near-final height (n = 78). Adverse events were assessed in all GH-treated patients. Results: The diagnosis resulting in GH treatment was GH deficiency (GHD) in 85.5 % of patients, followed by Turner syndrome (TS 6.6 %). Median starting GH dose was higher in patients with TS (0.30 mg/kg/week) than patients with GHD (0.23 mg/kg/week). Median (interquartile range) GH treatment duration was 2.6 (0.6–3.7) years. Mean (95 % confidence interval) final height SDS gain was 2.00 (1.27–2.73) for patients with organic GHD (n = 18) and 1.19 (0.97–1.40) for patients with idiopathic GHD (n = 41), but lower for patients with TS, 0.37 (−0.03 to 0.77, n = 13). Final height SDS was >−2 for 94 % of organic GHD, 88 % of idiopathic GHD and 62 % of TS patients. Mean age at GH start was lower for organic GHD patients, and treatment duration was longer than for other groups, resulting in greater mean final height gain. GH-related adverse events occurred mainly in patients diagnosed with idiopathic GHD. Conclusions: Data from the Italian cohort of GeNeSIS showed auxological changes and safety of GH therapy consistent with results from international surveillance databases.

To compare the growth charts of obese subjects (4-18 years) with the Tanner's growth curves and to analyze the growth velocities and bone age of obese children in prepuberty and adolescence. Moreover to compare the relationship between the serum insulinemic and glycemic levels and height standard deviation score (HSDS).Growth charts: this study included 1250 obese subjects (669 males, 581 females) observed between 1981 and 1993 and divided into seven age categories (4-6, 7-8, 9-10, 11-12, 13-14, 15-16, 17-18 years). Growth velocities: yearly growth velocities of 579 obese subjects (325 males, 254 females) were compared to growth velocities of 473 controlled children of the same sex, chronological age and pubertal stage. Bone age (BA) of 846 obese subjects (470 males, 376 females) was estimated. Blood analysis: insulin secretion of 70 obese children was considered and compared to 70 lean controls of equal chronological age and sex.Growth rate, standardized height and other physical characteristics of the children were measured by trained examiners. All subjects were evaluated singularly for at least 4 years with a follow-up every 6 months. BA was estimated by radiograph of the left hand and wrist using the Tanner-Whitehouse II system by a single observer. For the insulin secretion study and glycemic levels oral glucose tolerance test (OGTT) was performed using a glucose load of 1.75 g/kg per body weight. Plasma insulin was assessed by a double antibody radioimmunoassay.In adipose children the growth charts, referred to 97th centile, 50th centile and 3rd centile, were superior to those of the normal population up to the age of 13 and 12.5 years for male and for female respectively; growth decreases at the above age in both sexes. The obese subjects were equal in height to the non obese subjects as they reached their 18th birthday. The growth velocity (cm/yr) of the obese child, in the age range considered here, does not show differences when compared with the lean child in the prepubertal status (P not significant) but decreases during Tanner's stage II, III IV in boys and girls (P0.0001). BA is more advanced over chronological age (delta BA-CA) in both sexes. The increase of BA over CA does not show a remarkable difference during pubertal maturation in boys (P not significant); whereas in girls the delta BA-CA decreases with advancing sexual maturation (P0.0001). Our obese subjects have significantly higher plasma insulinemic levels compared with the lean controls (P0.0001). Moreover there is a positive correlation between plasma insulinemic levels and HSDS (r = 0.881, P0.0001). We did not observe a correlation between serum glycemic levels and HSDS.Our data demonstrate that the growth increase in an obese child starts in the first years of life. The statural advantage acquired in the first years of life would be exploited and maintained up to the beginning of puberty and with a growth velocity equal to that of the lean subject. Skeletal maturation is strongly increased in both sexes. Bone age remained advanced during the entire period of pubertal development. During puberty obese subjects demonstrate a less notable growth spurt when compared with lean subjects. The growth advantage gradually decreases and final adult height of obese and normal subjects is equal.

Twenty two patients with thalassemia major who received successful bone marrow transplantation (BMT) were followed to verify the impact of the transplant procedure on subsequent growth and development. The transplant preparative regimen consisted of busulphan and cyclophosphamide. Growth and endocrinological function were assessed during the first 4 years following BMT. At the time of transplant most patients showed growth retardation. The median difference between chronological age and bone age was -9.5 months for the boys and -8.5 months for the girls. Patients7 years old at the time of BMT showed a significant worsening of their growth delay at 48 months following BMT compared with 12 months before transplantation. Patients7 years at the time of BMT had their growth retardation constant over time span after transplantation. Moreover six of 11 younger patients showed an improvement of their growth delay compared with one of 11 older patients. The outcome of height standard deviation score at 24 and 48 months following BMT was strictly correlated with the level of serum transaminases and ferritin. Sixteen patients had impaired growth hormone secretion after a provocative test evaluated at 24 months after transplant. At 48 months there was no significant increase in the mean peak GH levels. This study confirms that the growth retardation of patients with thalassemia major is multifactorial.

Bone mineral status by phalangeal quantitative ultrasound (QUS, DBM Sonic, IGEA, Carpi, Modena, Italy) was examined in 3044 (1513 males and 1531 females) healthy subjects, aged 2-21 years. The aim of the study was to provide a reference database for phalangeal QUS parameters, amplitude-dependent speed of sound (AD-SoS) and bone transmission time (BTT), both expressed as centiles and Z score, according to gender, age, height, weight, body mass index (BMI), and pubertal stage to be used for estimating bone mineral status in patients with disorders of growth or of bone and mineral metabolism.In both sexes, AD-SoS and BTT increased significantly (P < 0.0001) according to all the anthropometric variables. Females showed higher values than males in the age groups 9-14 for AD-SoS (P < 0.04-P < 0.0001) and in the age groups 11-13 for BTT (P < 0.02). Males had higher BTT values than females in the age groups 6-8 and 15-21 (P < 0.04-P < 0.0001). AD-SoS was higher (P < 0.02-P < 0.0001) in females than in males at pubertal stages 2, 3, and 4, but it was higher (P = 0.001) in males compared with females at pubertal stage 5. BTT was higher in males than females at pubertal stages 1 (P < 0.0001), 2 (P < 0.01), and 5 (P < 0.0001). In both sexes, AD-SoS and BTT were significantly correlated between them (r = 0.92, P < 0.0001) and with all the anthropometric variables (r = 0.53-r = 0.85, P < 0.0001). Age, weight, BMI, and pubertal stage were independent predictors of AD-SoS in males; age and pubertal stage were independent predictors of AD-SoS in females. In both sexes, height and pubertal stage, and also age only in females, were independent predictors of BTT.In conclusion, our data show that gender, age, height, and-timing of sexual maturation are main determinants of bone structure and geometry, and that both these two processes may be captured by phalangeal QUS. It may be a useful tool to assess bone mineral status from early childhood to young-adulthood with a very small confounding effect related to bone sizes and without exposing the subjects to a source of radiation. (c) 2005 Elsevier Inc. All rights reserved.