Combined use of a wristband and a smartphone to reduce body weight in obese children: randomized controlled trial.

BACKGROUND: Technological instruments may help control paediatric obesity. OBJECTIVE: We tested whether a personalized programme based on the energy expenditure obtained from a wristband (WB) and the energy intake obtained from a smartphone application (APP) is superior to a standard approach at promoting weight loss. METHODS: We performed a randomized controlled trial in obese children aged 10-17 years. The experimental (EXP) and control (CTR) groups were given a low-energy diet and a prescription for physical activity. The EXP group was equipped with a WB and an APP and given personalized feedback every 7 days. The main outcome was weight loss at 3 months. RESULTS: The mean (standard deviation) z-score of body mass index at the enrollment was 2.20 (0.47) in the EXP (n = 16 out of 23) and 2.09 (0.34) in the CTR group (n = 14 out of 20) of children who completed the trial. The mean (95%CI) difference in weight loss at 3 months was 0.07 kg (95%CI: 2.81 to 2.96) for EXP vs. the CTR. CONCLUSION: A personalized lifestyle programme based on a WB and an APP was not superior to a standard lifestyle programme at promoting weight loss in obese children.

Nevus anemicus associated with neurofibromatosis type 1 in a neonate: a case report.

Neurofibromatosis type 1 (NF1) is a multisystemic autosomal dominant disease affecting approximately 1 individual in 3500. The diagnostic criteria developed by NIH in 1988 allow unequivocal diagnosis in all cases but the youngest children. Due to the variable phenotypic expression, the diagnosis of NF1 in the youngest may be challenging, particularly when the distinctive cutaneous lesions are missing. We describe the case of a neonate who presented at birth solely with a nevus anemicus. Although this is not considered a diagnostic feature, given the presence of a few café au lait lesions in the patient's father, the genetic test was performed and the diagnosis of NF1 confirmed. To our knowledge, the association between nevus anemicus and NF1 is only anedoctal. The peculiarity clinical manifestation of this case highlights the high variable expressivity of the NF1 gene mutation and reinforces the importance of genetic counseling in affected individuals.

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.

Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by the abnormal development of the ectodermal-derived structures. X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form. The main purpose of this study was to characterize the phenotype spectrum in 45 males harboring ED1 mutations. The study showed that in addition to the involvement of the major ectodermal tissues, the majority of patients also have alterations of several minor ectodermal-derived structures. Characterizing the clinical spectrum resulting from ED1 gene mutations improves diagnosis and can direct clinical care.

Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27).

The congenital vomer defect (CVD) is a rare and still partially unknown condition. Only few cases have been reported in the international literature and the large majority of them appeared to be isolated. We report a case of CVD detected in a 7-year-old girl affected by ectodermal dysplasia clefting syndrome caused by a mutation of the TP63 gene.

Immunomodulating activity of Pidotimod in children with Down syndrome.

Acute respiratory tract infections (ARTIs) are the most frequent illnesses in pediatric age, frequently experienced in children with Down Syndrome (DS) due to the associated immune defects of both specific and non-specific immunity. Pidotimod, a synthetic immunostimulant, was shown to reduce the rates of ARTIs in children with DS, however the mechanisms associated with this effect is currently unknown. We analyzed immune parameters in DS children who received the seasonal 2011–2012 virosomal-adjuvanted influenza vaccine. Eighteen children aged 3-10 years (mean age 7.1+/-2.6 years) were randomly assigned (1:1 ratio) to receive Pidotimod 400 mg, administered orally once a day for 90 days or placebo. At the recruitment (T0) all children received a single dose of virosomal-adjuvanted influenza vaccine (Flu). Blood samples were collected at T0 and 3 months after the recruitment (T3) in order to evaluate innate and adaptative immune responses pathway. Flu-specific IgG1 and IgG3 levels in plasma samples were determined at pre-vaccination (T0), and 1 (T1) and 3 months (T3) post-vaccination. The use of Pidotimod was associated with the upregulation of a number of genes involved in the activation of innate immune responses and in antimicrobial activity. Interestingly the ratio of Flu-specific IgG1/IgG3 was skewed in pidotimod-treated individuals, suggesting a preferential activation of complement-dependent effector mechanisms. Although preliminary these data suggest that Pidotimod can potentiate the beneficial effect of immunization, possibly resulting in a stronger activity of both innate and adaptive immune responses.

Adolescents with type 1 diabetes and risky behaviour.

AIM: The aim of the student is to assess whether adolescents with type 1 diabetes mellitus (T1DM) in Italy differ from their healthy peers in regard to risky behaviour. METHODS: Data were collected from 215 patients, aged 14 +/- 2 years with a mean disease duration of 7 +/- 5 years. The control group was comprised of 464 healthy adolescents recruited among high school students. Each patient completed an anonymous confidential questionnaire to determine the prevalence of sexual behaviour, alcohol and tobacco consumption, illicit drug use, and, among patients with diabetes and frequency of mismanagement related to diabetes care. RESULTS: Compared with controls, subjects with diabetes showed a similar rate of sexual intercourse among males and lower rates among females (34.8% vs 35.5%, p NS and 29.4% vs 41.4%, p < 0.05, respectively). Males in the diabetes group reported a higher rate of tobacco use, whereas females showed similar or higher rates of use for every illicit drug studied. Among patients with diabetes, those who are engaged in risky behaviour showed a higher rate of treatment mismanagement (76% vs 34%, p < 0.01). CONCLUSION: Adolescents with T1DM are as likely as their healthy peers to engage in risky behaviour, indicating the potential benefit of anticipatory guidance concerning glycaemic control and increased risk of acute and chronic complications.

A dangerous freshwater contact.

An 8-year-old girl was presented to our department for persistent diarrhoea. A first diagnosis of tuberculosis, along with the result of the chest x-ray scan, had been posed some months before, after a holiday in Brazil, when she started presenting aspecific systemic and gastrointestinal symptoms. The girl was under specific antitubercular treatment when we first saw her. New diagnosis of schistosomiasis was posed by our laboratory tests. Treatment with praziquantel was started and complete resolution of clinical and radiological picture was observed.