Search

Background Fake news on children’s and adolescent health are spreading. Internet availability and decreasing costs of media devices are contributing to an easy access to technology by families. Public health organizations are working to contrast misinformation and promote scientific communication. In this context, a new form of communication is emerging social media influencers. Aim of this study is to evaluate the role of paediatric influencers (PI) in communicating information about children and adolescents’ health. Materials and methods A group of PI was enrolled from December 2019 to January 2020 by a scientific commission nominated by the Italian Paediatric Society (SIP). PI were asked to share Facebook messages from the official page of the SIP to their own network. Social media tools have been evaluated across 12 months, from July 28, 2019, to July 11, 2020. For the purposes of clarity, we schematically divided the study period as follows: the period of PIs activity (January 6, 2020, to July 11, 2020) and the period when PIs were not yet active (July 28, 2019, to January 4, 2020). Information on Facebook page (lifetime total likes, daily new likes, daily page engaged, daily total reach) and on published post (lifetime post total reach, lifetime post organic reach, lifetime engaged users) were evaluated. Results A significant increase in Facebook daily new likes, page engagement and total reach, as well as in lifetime post total and organic reach was evidenced. As for PI, they reported a positive experience in most cases. Discussion In the digital era, communication strategies are becoming more important, so that the scientific community has to be actively involved in social media communication. Our pilot study demonstrated that the recruitment of paediatric influencers has increased communication and interaction of the SIP Facebook page. Conclusion Our study shows the potential role of influencers: spreading health messages via PI seems to be a successful strategy to promote correct communication about children’s and adolescents’ health.

Torticollis is a pathological condition characterized by involuntary flexion of the neck to the affected side and contextually a rotation of the chin in the opposite direction. We present the case of a 7-year-old girl, admitted to the paediatric emergency department complaining of headache, laterocollis rotation, left torticollis and deviation of the head to the right, without history of trauma or systemic illness. Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) brain scans were performed, showing a subtentorial lesion, expanded into the left median and paravermian region, associated with hypertensive hydrocephalus. Histopathological analysis revealed a first-degree astrocytoma. The aim of this case report is to highlight the importance of tumors as the differential diagnosis of acquired torticollis in children.

Background Although children with special health care needs (CSHCN) represent a minority of the population, they go through more hospitalizations, more admissions to the Emergency Department (ED), and receive a major number of medical prescriptions, in comparison to general pediatric population. Objectives of the study were to determine the reasons for admission to the ED in Italian CSHCN, and to describe the association between patient’s demographic data, clinical history, and health services requirements. Methods Ad hoc web site was created to collect retrospective data of 3479 visits of CSHCN to the ED in 58 Italian Hospitals. Results Seventy-two percent of patients admitted to ED were affected by a previously defined medical condition. Most of the ED admissions were children with syndromic conditions (54%). 44.2% of the ED admissions were registered during the night-time and/or at the weekends. The hospitalization rate was of 45.6% among patients admitted to the ED. The most common reason for admission to the ED was the presence of respiratory symptoms (26.6%), followed by gastrointestinal problems (21.3%) and neurological disorders (18.2%). 51.4% of the access were classified as ‘urgent’, with a red/yellow triage code. Considering the type of ED, 61.9% of the visits were conducted at the Pediatric EDs (PedEDs), 33.5% at the Functional EDs (FunEDs) and 4.6% at the Dedicated EDs (DedEDs). Patients with more complex clinical presentation were more likely to be evaluated at the PedEDs. CSHCN underwent to a higher number of medical procedures at the PedEDs, more in comparison to other EDs. Children with medical devices were directed to a PedED quite exclusively when in need for medical attention. Subjects under multiple anti-epileptic drug therapy attended to PedEDs or FunEDs generally. Patients affected by metabolic diseases were more likely to look for medical attention at FunEDs. Syndromic patients mostly required medical attention at the DedEDs. Conclusions Access of CSHCN to an ED is not infrequent. For this reason, it is fundamental for pediatricians working in any kind of ED to increase their general knowledge about CHSCN and to gain expertise in the management of such patients and their related medical complexity.

Crohn's disease (CD) is an inflammatory disease with a chronic relapsing course and a wide spectrum of manifestations that sometimes overlaps the symptoms of other pathologies. The paper describes the case of a girl with anorexia and a following diagnosis of CD.

Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocyte oxidative metabolism that, in addition to infectious complications, is characterized by abnormal inflammatory response leading to the formation of granulomas in multiple tissues both in the presence and absence of microorganisms. Inflammation often involves the gastrointestinal tract and the clinical, laboratory, and histological characteristics are hardly distinguishable from Crohn's disease (CD). CGD is indeed a rare but important differential diagnosis of chronic inflammatory bowel disease (IBD) especially when occurring in early life and its early detection is crucial to improve the prognosis. The paper reports the case of a 2-year-old boy who had a clinical presentation mimicking Crohn's disease with anal abscess, falling off the growth curve, elevated inflammatory parameters, and iron deficiency anaemia, whose diagnosis proved to be CGD.

Aplasia cutis congenita descrizione di casi clinici

Data on features of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in children and adolescents are scarce. We report preliminary results of an Italian multicentre study comprising 168 laboratory-confirmed paediatric cases (median: 2.3 years, range: 1 day–17.7 years, 55.9% males), of which 67.9% were hospitalised and 19.6% had comorbidities. Fever was the most common symptom, gastrointestinal manifestations were frequent; two children required intensive care, five had seizures, 49 received experimental treatments and all recovered.

Sportomics is the application of metabolomics in sports to investigate the metabolic effects of physical exercise on individuals, whether they are professional athletes or not. Metabolomics is one of the "omics" sciences that provide a picture of the metabolic state of a person in physiological or pathological conditions. This is achieved through the analysis of metabolites present in a biological fluid, such as saliva, blood, feces, and urine. The authors revised the recent literature concerning this topic and discussed the useful information that sportomics can provide and the limits of the current experimental settings. Furthermore, in the future, sportomics analyses could be used to prevent and manage injuries as it would be known in advance if an athlete is more prone to experience muscular damage or fatigue. Following more trials, it would also be possible to set the best diet and training programs to get the best performances out of the athletes. Moreover, based on their metabolic profiles, both adults and children could choose tailored physical training in order to preserve and improve their health.

Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively. The aim of this retrospective study was to explore anthropometric parameters and clinical characteristics among subjects with abnormalities in HC who had been referred for developmental assessment. One hundred and sixty four subjects with microcephaly and 144 subjects with macrocephaly were enrolled from birth to 18 months of age. Head circumference at birth and the association with variables related to maternal health status, gestational age, growth pattern, brain imaging and clinical characteristics were analyzed. In some cases, an etiological diagnosis was made. In the two considered conditions, we found different anthropometric and clinical associations, some of which were statistically significant, with implications for ongoing neurodevelopmental surveillance.

Fetal growth restriction (FGR) or intrauterine growth restriction (IUGR) are the terms used for a fetus which has not attained its full growth potential for gestational age. FGR is a multifactorial syndrome responsible for increased fetal and neonatal morbidity and mortality as well as long term adverse outcomes involving auxological, metabolic, organic and functional domains. Clinicians distinguish early and late onset FGR, in relation to specific fetal anthropometric parameters related to the possible primary etiology and to different patterns of placental and maternal cardiovascular pathologies. Delivery of an early onset FGR or growth impaired newborn with congenital pathology should be in tertiary care center, given the high perinatal morbidity. At hospital discharge the FGR infant should be enrolled, in a multidimensional individualized developmental follow-up. Subjects who have suffered from FGR should adopt a healthy lifestyle.

The impact of genetic diseases on the pediatric population in clinical practice is remarkable and their prevalence has rapidly increased in the last 50 years. A wide diffusion of modern diagnostic techniques has implemented early diagnosis and consequently the precocious start of effective support therapies which have determined an increased survival rate and quality of life. The percentage of genetics anomalies in children hospitalized is really high and amounts to at least 50% of hospital pediatric admissions. Over 5% of stillborn babies, without other known causes, have genetic disorders, and it goes up to 50% in the case of visible malformations.

Background Acute asthma attack is a frequent condition in children. It is one of the most common reasons for emergency department (ED) visit and hospitalization. Appropriate care is fundamental, considering both the high prevalence of asthma in children, and its life-threatening risks. Italian Society of Pediatrics recently issued a guideline on the management of acute asthma attack in children over age 2, in ambulatory and emergency department settings. Methods The Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was adopted. A literature search was performed using the Cochrane Library and Medline/PubMed databases, retrieving studies in English or Italian and including children over age 2 year. Results Inhaled ß2 agonists are the first line drugs for acute asthma attack in children. Ipratropium bromide should be added in moderate/severe attacks. Early use of systemic steroids is associated with reduced risk of ED visits and hospitalization. High doses of inhaled steroids should not replace systemic steroids. Aminophylline use should be avoided in mild/moderate attacks. Weak evidence supports its use in life-threatening attacks. Epinephrine should not be used in the treatment of acute asthma for its lower cost / benefit ratio, compared to β2 agonists. Intravenous magnesium solphate could be used in children with severe attacks and/or forced expiratory volume1 (FEV1) lower than 60% predicted, unresponsive to initial inhaled therapy. Heliox could be administered in life-threatening attacks. Leukotriene receptor antagonists are not recommended. Conclusions This Guideline is expected to be a useful resource in managing acute asthma attacks in children over age 2.

Background: Children and adolescent with type 1 diabetes mellitus (T1DM) are considered one of the pediatric populations at highest cardiovascular risk. Aim: This cross-sectional study was aimed to assess in children and adolescents with T1DM, the clinical correlates of early morphofunctional changes of the large arteries. Methods: Children and adolescents with T1DM treated with basal-bolus insulin therapy were included in the study if they had a disease duration of at least 5 years. The following parameter were examined: waist circumference, waist/height ratio (W/H), BMI, blood pressures, lipid profile, microalbuminuria, insulin dose, HbA1c, carotid intima-media thickness (c-IMT) and the difference between the observed and 95th percentile of age and height c-IMT distribution (Δc-IMT), aortic pulse wave velocity (Ao PWV) and the difference between the observed and 90th percentile of age Ao PWV distribution (ΔPWVAo). The study population was divided into two groups, on the basis of a value of W/H < or > 0.5. Results: A total of 45 (20 males and 25 females) children and adolescents were included in the study. Their mean age was 14.0±2.7 years, their disease duration 6.2±3.5 years. Significant correlations were found between W/H and age Δc-IMT (p= 0.009), height Δc-IMT (p= 0.008), and mean c-IMT (p= 0.015). AoPWV correlated with HbA1c values (p= 0.012), diastolic blood pressures (p=0.014), triglycerides (TG) (p= 0.009) and with microalbuminuria (p= 0.017). Subjects with W/H > 0.5 have higher values of mean c-IMT (p= 0.03), age ∆cIMT (p=0.02) and height ∆cIMT (p= 0.02). Conclusion: In children and adolescents with T1DM morphofunctional changes of the large arteries are associated with different clinical features, including the waist/height ratio. It showed a stronger correlation with c-IMTA than other indices of adiposity. Its simple measurement may allow to better assess the cardiovascular risk of T1DM pediatric patients.

The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, especially in the setting of critical clinical conditions. The differential diagnosis process in the neonatal intensive care unit (NICU) may be time-consuming, uncomfortable for the patient due to repeated sampling, and ineffective in reaching a molecular diagnosis during NICU stay. Serial gene sequencing (Sanger sequencing) may be successful only for conditions for which the clinical phenotype strongly suggests a diagnostic hypothesis and for genetically homogeneous diseases. Newborn screenings with Guthrie cards, which vary from country to country, are designed to only test for a few dozen genetic diseases out of the more than 6000 diseases for which a genetic characterization is available. The use of WES in selected cases in the NICU may overcome these issues. We present an intersociety document that aims to define the best indications for the use of WES in different clinical scenarios in the NICU. We propose that WES is used in the NICU for critically ill newborn infants when an early diagnosis is desirable to guide the clinical management during NICU stay, when a strong hypothesis cannot be formulated based on the clinical phenotype or the disease is genetically heterogeneous, and when specific non-genetic laboratory tests are not available. The use of WES may reduce the time for diagnosis in infants during NICU stay and may eventually result in cost-effectiveness.

Introduzione: la sindrome da attivazione macrofagica (SAM) è una condizione clinica rara, di cui esistono forme primitive (es. deficit di perforine) e secondarie ad infezioni, farmaci, immunodeficit; nel 10% dei casi rappresenta una complicanza dell'artrite idiopatica giovanile sistemica (AIG). Criteri diagnostici: febbre, epatosplenomegalia, citopenia bilineare, aumento di ferritina, transaminasi, ipertrigliceridemia ed ipofibrinogenemia con segni di emofagocitosi all'aspirato midollare. Terapia: metilprednisolone a 30 mg/Kg/die ev e terapia della patologia di base; nei no-responders trova impiego l'uso dei farmaci immunosoppressori come ciclosporina, Anakinra per forme secondarie ad AIG, e trapianto di midollo per HLH. Case Report: R.S., 12 anni, gentilizio positivo per artrite sistemica in linea materna. APR negativa, vaccinazioni secondo legge. APP: giunge per febbre continuo-remittente antibioticoresistente. E.O. : TC 39°C, aspetto sofferente, rash fugace al volto, artralgie diffuse, epatosplenomegalia. Restante E.O. nei limiti. Esami ematochimici: PCR 34,8 (vn

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

Objectives: Mecasermin is recombinant human insulin-like growth factor 1 (IGF1) which is approved for the treatment of short stature in children with documented primary IGF1 deficiency. Leprechaunism, also known as Donohue syndrome, is a severe disease, secondary to a severe congenital insulin resistance, with prenatal and neonatal growth retardation, typical dysmorphic features, glycaemic dysregulation characterized by hyperinsulinemia and hyperandrogenism. These patients have a poor prognosis with death in the first year of life. Methods: We describe the case of a 3.5 years child, born at 35,4 weeks, with severe fetal growth restriction (weight 1149 gr; length: 38 cm; cranial circumference: 28 cm), typical facial features with low implant ears, low implant hairs, hypertrichosis, hypertrophic external genitalia, postnatal growth failure, and severe hyperglycaemia (327 mg/dl) alternated with hypoglycaemia (10 mg/dl) also during i.v. infusion of glucose; significant hyperinsulinism (1000 mcU/dl) with elevated C peptide levels (43,41 ng/ml), persistent hypertension (113/74 mmHg). He has consanguineous parents (cousins) and the mother underwent abortions before the baby was born. Results: A treatment with diazoxide (5 mg/kg/day) was tried with limited efficacy. He was treated with ACE-inhibitor (Captopril) at the dose of 0,02 mg/kg/day with a low response. The Captopril dose was increased at 0,04 mg/kg/day with a regulation of the blood pressure (76/54 mmHg). The genetic study of INS-R was showed a homozygote mutation in the insulin receptor (INS-R) gene. The mutation reported was c.3289C>T (CAG->TAG) p.Gln1097Stop (Q1097X). For the growth delay and the hypotrophic muscular masses he started a off-label treatment with mecasermin at increasing doses. He had no adverse events linked to the treatment. Otherwise, he improved growth and muscular strength. Conclusions: The singular case is of relieve for the rarity of the disease and for the good response to the treatment with mecasermin, the real opportunity for these children with a severe disease otherwise with a poor prognosis.

Background: Respiratory Syncytial Virus (RSV) is one of the main causes of respiratory infections during the first year of life. Very premature infants may contract more severe diseases and 'late preterm infants' may also be more susceptible to the infection. The aim of this study is to evaluate the risk factors for hospitalization during the first year of life in children born at different gestational ages in Italy. Methods: A cohort of 33-34 weeks gestational age (wGA) newborns matched by sex and age with two cohort of newborns born at 35-37 wGA and >37 wGA were enrolled in this study for a three-year period (2009-2012). Hospitalization for bronchiolitis (ICD-9 code 466.1) during the first year of life was assessed through phone interview at the end of the RSV season (November-March) and at the completion of the first year of life. Results: The study enrolled 2314 newborns, of which 2210 (95.5 %) had a one year follow-up and were included in the analysis; 120 (5.4 %) were hospitalized during the first year of life for bronchiolitis. Children born at 33-34 wGA had a higher hospitalization rate compared to the two other groups. The multivariate analysis carried out on the entire population associated the following factors with higher rates for bronchiolitis hospitalization: male gender; prenatal treatment with corticosteroids; prenatal exposure to maternal smoking; singleton delivery; respiratory diseases in neonatal period; surfactant therapy; lack of breastfeeding; siblings

Asfissia, late preterm, a termine

Background Tobacco smoke exposure (TSE) is a worldwide health problem and it is considered a risk factor for pregnant women’s and children’s health, particularly for respiratory morbidity during the first year of life. Few significant birth cohort studies on the effect of prenatal TSE via passive and active maternal smoking on the development of severe bronchiolitis in early childhood have been carried out worldwide. Methods From November 2009 to December 2012, newborns born at ≥33 weeks of gestational age (wGA) were recruited in a longitudinal multi-center cohort study in Italy to investigate the effects of prenatal and postnatal TSE, among other risk factors, on bronchiolitis hospitalization and/or death during the first year of life. Results Two thousand two hundred ten newborns enrolled at birth were followed-up during their first year of life. Of these, 120 (5.4 %) were hospitalized for bronchiolitis. No enrolled infants died during the study period. Prenatal passive TSE and maternal active smoking of more than 15 cigarettes/daily are associated to a significant increase of the risk of offspring children hospitalization for bronchiolitis, with an adjHR of 3.5 (CI 1.5–8.1) and of 1.7 (CI 1.1–2.6) respectively. Conclusions These results confirm the detrimental effects of passive TSE and active heavy smoke during pregnancy for infants’ respiratory health, since the exposure significantly increases the risk of hospitalization for bronchiolitis in the first year of life. Electronic supplementary material The online version of this article (doi:10.1186/s12931-015-0312-5) contains supplementary material, which is available to authorized users.

15q13.3 microduplication syndrome, genomic rearrangment, gentotype-phenotype correlation