Background: The lives of many children and adolescents are today increasingly influenced by new technological devices, including smartphones. The coronavirus disease 2019 (COVID-19) pandemic occurred in a time of outstanding scientific progress and global digitalization. Young people had relevant adverse psychological and behavioral effects due to the COVID-19 pandemic, mainly related to infection control measures, which led them to spend more time at home and with major use of technological tools. The goal this study proposes is to evaluate health and social outcomes of smartphone overuse among Italian children and adolescents during the COVID-19 pandemic, analyzing patterns and aims of utilization, as well as the eventual presence and degree of addiction. Methods: This study was based on a self-report and anonymous questionnaire, which was administered to 184 Italian school-age (6–18 years) children and adolescents during the second wave of the COVID-19 pandemic. The test was electronically (email, whatsapp) explained and sent by pediatricians either directly to older children (middle and high school), or indirectly, through the help of teachers, to younger ones (primary school). All participants spontaneously and voluntarily joined the present study. The survey was made by 4 sections, and designed to know and outline modalities (frequency, patterns and aims) of smartphone use, adverse outcomes, and related parental behaviors, also in order to reveal the eventual occurrence and degree of addiction. The same information, related to the pre-epidemic period, was also investigated and analyzed. Results: The data obtained revealed a significantly greater adhesion to the questionnaire by females, likely reflecting higher attention and interest than boys to initiatives relating to health education. Our study showed more frequent smartphone use among Italian children and adolescents during the COVID-19 pandemic, compared to the pre-epidemic period. This may be related to the social distancing measures adopted during the months under investigation. The present survey also outlined the changing patterns and aims in the use of smartphones among young people, which allowed to limit some effects of the crisis. Indeed, they were used for human connection, learning and entertainment, providing psychological and social support. Finally, it was observed a significant increase of overuse and addiction. This led to many clinical (sleep, ocular and musculoskeletal disorders), psychological (distraction, mood modification, loss of interest) and social (superficial approach to learning, isolation) unfavorable outcomes. Conclusions: Pediatricians and health care professionals should be aware of the potential risks related to inappropriate use of smartphones. They should monitor, in cooperation with parents, possible associated adverse effects, in order to early recognize signs and symptoms suggestive, or at high risk, for addiction. They must carry out, as well, the necessary interventions to prevent and/or lower the detrimental impact of smartphone overuse on children and adolescents’ health, oriented to sustain adequate physical and psychological development as well as social relationships.

Pediatrics and society are closely related. This link is as old as the history of Pediatrics, and dates to the second half of the eighteenth century. The vocation of the first European pediatric schools, indeed, was clinical and scientific, as well as social. The founding fathers of Pediatrics were scientists of great talent, and many of them benefactors and philanthropists. They spent their lives assisting the suffering childhood, and became promoters and organizers of social securities for the poorest and most vulnerable categories. The attention to the problems of abandonment was closely linked to study, prevention, and treatment of pathologies (especially infectious, deficiency and neurological ones). The profile and activity of pediatricians grew in the following decades after the birth of the first pediatric schools. The University institutions contributed to provide a further impulse to childcare as well as cultural authority, also thanks to the foundation of the first chairs and scientific journals of Pediatrics. The relevance and prestige of the studies performed rapidly spread throughout Europe, and also reached our country, contributing to a progressive and relevant improvement in the quality of children’s care, and in the meantime to the decrease of neonatal and infant mortality rates.Today’s pediatricians, as in the past, must spend his efforts to face the needs of children and their families, be their social receptor, interpreter if necessary, and credible and authoritative interlocutor beside institutions. The current coronavirus pandemic dramatically exposed social inequalities and inequities. In this new scenario, the pediatrician’s role of defender of all children becomes even more necessary and indispensable. Here we trace the historical steps which led to the birth and development of pediatrics, as independent medical discipline with ethical and social vocation. Its rise within the University institutions is analyzed, as well as the contribution of the greatest European and Italian masters. Finally, the role of today’s pediatrician is described, his responsibilities also in dealing with new health critical issues, related to the biological, cultural, and psychological changes of the patients of present days. He must have holistic competences, to effectively take care of all children. In addition, he must socially act to guarantee the best possible context for the well-being of the child.

Background: Two hundred seventy-five thousand maternal deaths, 2.7 million neonatal deaths, and 2.6 million stillbirths have been estimated in 2015 worldwide, almost all in low-income countries (LICs). Moreover, more than 20 million severe disabilities result from the complications of pregnancy, childbirth or its management each year. A significant decrease of mortality/morbidity rates could be achieved by providing effective perinatal and newborn care also in high-income countries (HICs), especially in peripheral hospitals and/or rural areas, where the number of childbirths per year is often under the minimal threshold recognized by the reference legislation. We report on a 2 years retrospective cohort study, conducted in a first level peripheral hospital in Cefalù, a small city in Sicily (Italy), to evaluate care provided and mortality/morbidity rates. The proposed goal is to improve the quality of care, and the services that peripheral centers can offer. Methods: We collected data from maternity and neonatal records, over a 2-year period from January 2017 to December 2018. The informations analyzed were related to demographic features (age, ethnicity/origin area, residence, educational level, marital status), diagnosis at admission (attendance of birth training courses, parity, type of pregnancy, gestational age, fetal presentation), mode of delivery, obstetric complications, the weight of the newborns, their feeding and eventual transfer to II level hospitals, also through the Neonatal Emergency Transport Service, if the established criteria were present. Results: Eight hundred sixteen women were included (age 18–48 years). 179 (22%) attended birth training courses. 763 (93%) were Italian, 53 foreign (7%). 175 (21%) came from outside the province of Palermo. Eight hundred ten were single pregnancies, 6 bigeminal; 783 were at term (96%), 33 preterm (4%, GA 30–41 WG); 434 vaginal deliveries (53%), 382 caesarean sections (47%). One maternal death and 28 (3%) obstetric complications occurred during the study period. The total number of children born to these women was 822, 3 of which stillbirths (3.6‰). 787 (96%) were born at term (>37WG), 35 preterm (4%), 31 of which late preterm. Twenty-one newborns (2.5%) were transferred to II level hospitals. Among them, 3 for moderate/severe prematurity, 18 for mild prematurity/other pathology. The outcome was favorable for all women (except 1 hysterectomy) and the newborns transferred, and no neonatal deaths occurred in the biennium under investigation. Of the remaining 798 newborns, 440 were breastfed at discharge (55%), 337 had a mixed feeding (breastfed/formula fed, 42%) and 21 were formula fed (3%). Conclusions: Although the minimal standard of adequate perinatal care in Italy is >500 childbirths/year, the aims of the Italian legislation concern the rationalization of birth centers as well as the structural, technological and organizational improvement of health facilities. Therefore, specific contexts and critical areas need to be identified and managed. Adequate resources and intervention strategies should be addressed not only to perinatal emergencies, but also to the management of mild prematurity/pathology, especially in vulnerable populations for social or orographic reasons. The increasing availability and spread of health care offers, even in HICs, cannot be separated from the goal of quality of care, which is an ethic and public health imperative.

Background: Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible for cardio-facio-cutaneous microdeletion syndrome, whose affected subjects show more severe phenotype than CFCS general population. Case presentation: Hereby, we report on a female newborn with prenatal diagnosis of omphalocele, leading to further genetic investigations through amniocentesis. Among these, array comparative genomic hybridization (a-CGH) identified a 19p13.3 microdeletion, spanning 1.27 Mb and including MAP 2 K2 gene. Clinical features at birth (coarse face with dysmorphic features, sparse and friable hair, cutaneous vascular malformations and hyperkeratotic lesions, interventricular septal defect, and omphalocele) were compatible with CFCS diagnosis, and further postnatal genetic investigations were not considered necessary. Soon after discharge, at around 1 month of life, she was readmitted to our Neonatal Intensive Care Unit due to repeated episodes of vomiting, subtending a hypertrophic pyloric stenosis (HPS) which was promptly identified and treated. Conclusions: Our report supports the 19p13.3 microdeletion as a contiguous gene syndrome, in which the involvement of the genes contiguous to MAP 2 K2 may modify the patients’ phenotype. It highlights how CFCS affected subjects, including those with 19p13.3 deletions, may have associated gastrointestinal defects (e.g., omphalocele and HPS), providing further data on 19p13.3 microdeletion syndrome, and a better characterization of its genomic and phenotypic features. The complex clinical picture of such patients may be worsened by additional, and even precocious, life-threatening conditions like HPS. Clinicians must consider, anticipate and/or promptly treat possible medical and surgical complications, with the aim of reducing adverse outcomes. Extensive diagnostic work-up, and early, continuous, and multidisciplinary follow-up, as well as integrated care, are necessary for the longitudinal clinical evolution of any single patient.

The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features. The preliminary group collected 168 subjects with clinical suspicion of NF1. They were evaluated following the National Institutes of Health (NIH) criteria for NF1, revised by Gutmann et al. 1997, integrated for 67 of them by molecular testing. According to these references, 112 of 168 patients were diagnosed as NF1. The sample was characterized by an equal sex ratio (57 males, 55 females) and age distribution ranging from 10 days to 60 years of age (mean age, 13 years). A wide spectrum of clinical features has been observed in our patients. Mutational analysis resulted positive in 51 cases (76%). Twenty-four mutations detected in our cohort have not been reported to date. This study may contribute to a better definition of genotypic and phenotypic features of NF1 patients, with respect to further insights into the clinical characterization of the disease. In addition, an amplification of the spectrum of mutations in the NF1 gene has been documented.