High prevalence of precocious puberty and obesity in childhood narcolepsy with cataplexy.

Study Objectives: We analyzed the potential predictive factors for precocious puberty, observed in some cases of childhood narcolepsy with cataplexy (NC) and for obesity, a much more common feature of NC, through a systematic assessment of pubertal staging, body mass index (BMI), and metabolic/endocrine biochemical analyses.

Design: Cross-sectional on consecutive recruitment.

Setting: Hospital sleep center and pediatric unit.

The burden of narcolepsy with cataplexy: how disease history and clinical features influence socio-economic outcomes.

Objective: To investigate in narcolepsy with cataplexy (NC) patients of working age (18-65 years) the influence of age at onset, age at diagnosis and clinical features on socio-occupational conditions, disease-related economic burden, and quality of life.

Methods: One hundred consecutive patients underwent a semistructured interview on socio-occupational aspects, NC-related direct and indirect costs, and NC history. Questionnaires were used to evaluate excessive daytime sleepiness, cataplexy, depressive symptoms, and quality of life.

Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up.

Introduction: Corticosteroid treatment is the standard of care in Duchenne muscular dystrophy (DMD), but the optimal age to initiate treatment and dosage pattern remain a matter of discussion.

Methods: We performed a long-term study of alternate-day corticosteroids in five 2- to 4-year-old DMD patients. The primary outcome measure was prolongation of the ability to walk.

GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitus.

Background: The 65-kD isoform of glutamic acid decarboxylase (GAD65) is a major autoantigen in type 1 diabetes. We hypothesized that alum-formulated GAD65 (GAD-alum) can preserve beta-cell function in patients with recent-onset type 1 diabetes.

Methods: We studied 334 patients, 10 to 20 years of age, with type 1 diabetes, fasting C-peptide levels of more than 0.

Increased large artery intima media thickness in adolescents with either classical or non-classical congenital adrenal hyperplasia.

Background: Increased artery intima-media thickness (IMT) was found in adults with classical congenital adrenal hyperplasia (CAH). No data are available in patients with non-classical (NC) CAH.

Aims: To evaluate IMT in adolescents with classical and NC CAH and to compare the results with those recorded in a control population.

Onset of type 1 diabetes mellitus in two patients with maturity onset diabetes of the young.

The association between maturity onset diabetes of the young (MODY) and type 1 diabetes mellitus (T1DM) has been rarely described. We report two patients affected by MODY who developed T1DM. Case 1: a 4-yr-old girl referred for glycosuria presented hemoglobin A1c (HbA1c) of 6.

A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.

Background: Congenital adrenal hyperplasia (CAH) is mainly caused by the deficiency of the 21-hydroxylase enzyme coded by the CYP21A2 gene. However, some alleles in the non-classical form (NC-CAH) remain without identified mutations, suggesting the involvement of regulatory regions.

Aim: Our objective was to study an allele carrying the variant *13 G>A in the 3'UTR of the CYP21A2 gene identified in some patients with a mild form of NC-CAH in order to verify the possible implication of this variation with the phenotype observed.

A rare association of inlet patch with laryngospasm: a report of two children and literature review.

The inlet patch (IP) is an area of heterotopic gastric mucosa in the cervical esophagus commonly seen during upper endoscopy. Although generally asymptomatic IP has been associated with esophageal and supraesophageal symptoms and, though rare, in adult with malignant transformation. We describe two cases of recurrent episodes of laryngospasm associated with IP.

High rate of regression from micro-macroalbuminuria to normoalbuminuria in children and adolescents with type 1 diabetes treated or not with enalapril: the influence of HDL cholesterol.

Objective: To evaluate the frequency of normalization, the persistence of remission, and the impact on normalization of glycemic control and lipid profile, we analyzed data from a retrospective observational cohort study of type 1 diabetic children and adolescents with abnormal urinary albumin excretion (UAE).

Research Design And Methods: All diabetic children and adolescents (n = 41) who had persistent abnormal UAE in the period of 1984 to 2008 and followed up until 2009 (follow-up duration = 13.1 ± 6.

Psychological and behavioural aspects in children and adolescents with congenital hypothyroidism diagnosed by neonatal screening: comparison between parents' and children's perceptions.

Objective: To compare the psychological adjustment and behaviour of congenital hypothyroidism (CH) children and their parents with a control group.

Study Design: A cross-sectional study was carried out with 84 CH subjects diagnosed by neonatal screening (range 2.7-18.

Prediction of response to growth hormone treatment in pre-pubertal children with growth hormone deficiency.

Background: GH therapy response varies substantially among patients. Several models were developed to predict the efficacy of GH therapy in children.

Aim: To evaluate the accuracy of a growth prediction model using data from an Italian pediatric GH deficiency (GHD) cohort (GeNeSIS, Growth Prediction Sub-study).

Impact of molecular genetics on congenital adrenal hyperplasia management.

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the enzymes involved in one of the 5 steps of adrenal steroid synthesis or the electron donor P450 oxidoreductase (POR) enzyme. Steroid 21-hydroxylase deficiency (21-OHD), the principal focus of this review, accounts for about 90-95% of all CAH cases, and its biochemical and clinical severity depends on the underlying CYP21A2 gene disruption. Molecular genetic advancements have been achieved in recent years, and the aim of this review is to attempt to highlight its contribution to the comprehension and management of the disease.

Update on age at menarche in Italy: toward the leveling off of the secular trend.

Purpose: To update the information on age at menarche in the Italian population and to verify the influence of genetic, nutritional, and socioeconomic factors on menarcheal age. Recent studies suggest that the magnitude of the secular trend toward an earlier age at menarche is slackening in industrialized countries.

Methods: This multicenter study was conducted on a large, population-based sample of Italian high school girls (n = 3,783), using a self-administered questionnaire.

Auxological and anthropometric evaluation in skeletal dysplasias.

Anthropometry is the technique of expressing body shape in quantitative terms. The measurements are compared with the standard growth curves for the general population and expressed as a SD score or percentiles. The comparison of the different parameters with normal standards requires: standardized landmarks on the body, standardized methods of taking measurements, and standard equipment.

The SHOX gene: a new indication for GH treatment.

Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated to have occurred in at least 1 in 2,000 children. This occurrence rate is higher than that of classic GH deficiency or Turner syndrome.

Long-term clinical significance of thyroid autoimmunity in children with celiac disease.

Objective: To evaluate the long-term outcome of thyroid function and autoimmunity in a large series of children with celiac disease.

Study Design: This longitudinal, retrospective study (duration of follow-up, 8.9 +/- 4.

Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.

Context: Mutations in TSH receptor (TSHR) are notoriously associated with congenital hypothyroidism as well as with non-autoimmune subclinical hypothyroidism, a mild form of TSH resistance that is not as well characterized by diagnostic procedures.

Objective: The genetic analysis of the TSHR gene was performed to determine the prevalence of TSHR gene mutations in non-autoimmune subclinical hypothyroidism during the pediatric age. The new mutations were studied for genotypic-phenotypic correlation.

Cardiovascular risk factors and ultrasound evaluation of carotid atherosclerosis in patients with HIV-1 infection.

A cross-sectional study was performed to evaluate classical risk factors for cardiovascular diseases and subclinical atherosclerosis by carotid ultrasonography in HIV-positive subjects, naïve or treated with antiretroviral agents. A total of 66 patients were enrolled into the study: 21 subjects were naïve to all antiretroviral agents (group A) and 45 patients were treated with antiretroviral therapy for >or=36 months (group B). The prevalence of carotid plaques was significantly higher in group B than in group A (44.

Microwave processing and ethanol-based fixation in forensic pathology: an addendum of further scanning electron microscope observations.

Scanning electron microscope microscopy on samples of tissue fixed with alcohol-based fixative and processed using a microwave device confirmed the validity of the fixation procedure. The details are clearer with respect to those obtainable with formalin fixatives. It was interesting to work on sections prepared for normal histologic processing because the metallization indispensable for scanning electron microscope occurred without difficulty.

17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.

Objective: Aim of this study is to report on basal clinical phenotype and follow up after diagnosis, of patients with 17beta-hydroxysteroid-dehydrogenase type 3 (17beta-HSD3) deficiency in Italy.

Setting: Pediatric Endocrine Departments, University Hospitals.

Patients: The cases of 5 Italian subjects affected by 17beta-HSD3 deficiency are presented in this study.

Correlations of phenotype and genotype in relation to morphologic remodelling of the aortic root in patients with Turner's syndrome.

Background: Patients with Turner's syndrome are at risk of aortic dilation and dissection. Currently, it is not known whether such dilation is related to associated cardiovascular abnormalities, or to the genetic anomaly itself.

Methods: We studied echocardiographically 107 patients with genetically proven Turner's syndrome, with heterogeneous underlying karyotypes, and without associated cardiac lesions.

Developmental syndromes: growth hormone deficiency and treatment.

Developmental syndromes are characterized by numerous phenotypical signs and malformations. In most of them such as Turner, Noonan, Prader-Willi, Silver-Russel, Williams, Kabuki, Leri-Weill syndrome and skeletal dysplasias, short stature is a common feature. Growth defect is very often related to a defect in cellular growth, but some unknown abnormality in GH action is possible.

Hearing loss in Turner syndrome: results of a multicentric study.

Unlabelled: The purpose of this article was to evaluate otological diseases in 173 patients (pts) with Turner syndrome (TS).

Study Design: One hundred and seventy-three pts, mean chronological age (CA) 12+/-6.2 yr.

Intravenous high-dose immunoglobulin treatment in recent onset childhood narcolepsy with cataplexy.

We report on the outcome of intravenous high-dose immunoglobulin (IVIg) treatment in four children with narcolepsy and cataplexy, in whom the early diagnosis and the extreme disease severity were indications for this potentially efficacious therapy. One of four patients showed an objective and persistent improvement in clinical features during and after IVIg treatment. Our data partially support the recent report of the efficacy of IVIg treatment in early diagnosed narcolepsy with cataplexy and support the need for a controlled multicenter clinical trial on IVIg in narcolepsy.