Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. Cases presentation We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin…

Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactoferrin Counteracts This Effect

Objective: To investigate whether exposure to inhibitors of gastric acidity, such as H2 blockers or proton pump inhibitors, can independently increase the risk of infections in very low birth weight (VLBW) preterm infants in the neonatal intensive care unit. Study design: This is a secondary analysis of prospectively collected data from a multicenter, randomized controlled trial of bovine lactoferrin (BLF) supplementation (with or without the probiotic Lactobacillus rhamnosus GG) vs placebo in prevention of late-onset sepsis (LOS) and necrotizing enterocolitis (NEC) in preterm infants. Inhibitors of gastric acidity were used at the recommended dosages/schedules based on the clinical judgmen…

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations

Abstract Background Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of c…

Media use during adolescence: the recommendations of the Italian Pediatric Society

Abstract Background The use of media device, such as smartphone and tablet, is currently increasing, especially among the youngest. Adolescents spend more and more time with their smartphones consulting social media, mainly Facebook, Instagram and Twitter because. Adolescents often feel the necessity to use a media device as a means to construct a social identity and express themselves. For some children, smartphone ownership starts even sooner as young as 7 yrs, according to internet safety experts. Material and methods We analyzed the evidence on media use and its consequences in adolescence. Results In literature, smartphones and tablets use may negatively influences the psychophysical d…

The Italian longitudinal cohort of newborn twins: A research opportunity

Media devices in pre-school children: the recommendations of the Italian pediatric society

Abstract Background Young children are too often exposed to mobile devices (MD) and most of them had their own device. The adverse effects of a early and prolonged exposure to digital technology on pre-school children has been described by several studies. Aim of the study is to analyze the consequences of MD exposure in pre-school children. Methods We analyzed the documented effects of media exposure on children’s mental and physical health. Results According to recent studies, MD may interfere with learning, children development, well being, sleep, sight, listening, caregiver-child relationship. Discussion Pediatricians should be aware of both the beneficial and side effects of MD and giv…

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, a…

Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants

Acute bronchiolitis is the leading cause of lower respiratory t ract infection and hospitalization in children less than 1y ear of age worldwide. It is usually a mild disease, but some children may develop severe symptoms, requiring hospital admission and ventilatory support in the ICU. Infants with pre-existing risk factors (prematurity, bronchopulmonary dysplasia, congenital heart diseases and immunodeficiency) may be predisposed to a severe form of the disease. Clinical diagnosis of bronchiolitis is manly based on medical history and physical examination (rhinorrhea, cough, crackles, wheezing and signs of respiratory distress). Etiological diagnosis, with antigen or genome detection to i…