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Necrotizing enterocolitis (NEC) is a typical disorder of preterm newborns, with a high mortality and morbidity rate. The therapeutic and nutritional management of disease depends on several factors. Its prognosis is linked, in addition to the severity of the disease and the need for surgery, to a correct enteral feeding in these patients. This study aims to identify the clinical characteristics of 18 patients with NEC, evaluating the different therapeutic paths undertaken, the type of formula used and the survival rate of this population. Average time of enteral nutrition before the NEC onset was 11,3 ± 11,6 days, with an average fasting period since the onset of 24 ± 18.9 days. 77.8% of patients received surgery and resumed enteral nutrition 17.7 ± 17.9 days after the intervention. The overall survival rate of our cohort was 55.5%. More prospective studies are needed to evaluate the long-term outcomes of survived children with NEC. [ABSTRACT FROM AUTHOR]

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, and pancytopenia of variable degree. Array comparative genomic hybridization (aCGH) identified a terminal deletion at 11q24.1-q25 of 12.5 Mb and 11 Mb, in Patient 1 and 2, respectively. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletion for Patient 1; parents of Patient 2 refused further genetic investigations. Conclusions: Present newborns show the full phenotype of JBS including thrombocytopenia, according to their wide 11q deletion size. Bleeding was particularly severe in one of them, leading to a cerebral hemorrhage. Our report highlights the relevance of early diagnosis, genetic counselling and careful management and follow-up of JBS patients, which may avoid severe clinical consequences and lower the mortality risk. It may provide further insights and a better characterization of JBS, suggesting new elements of the genotype-phenotype correlations. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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 communication of diagnosis is low. Poor communication may have short and long-term negative effects on health and psychological and social development of the child and his family. We draw up recommendations on this issue, shared by 6 Italian Scientific Societies and 4 Parents' Associations, aimed at making the neonatologist's task easier at the difficult time of communication to parents of a genetic disease/malformation syndrome diagnosis for their child. Methods: We used the method of the consensus paper. A multidisciplinary panel of experts was first established, based on the clinical and scientific sharing of the thematic area of present recommendations. They were suggested by the Boards of the six Scientific Societies that joined the initiative: Italian Societies of Pediatrics, Neonatology, Human Genetics, Perinatal Medicine, Obstetric and Gynecological Ultrasound and Biophysical Methodologies, and Pediatric Genetic Diseases and Congenital Disabilities. To obtain a deeper and global vision of the communication process, and to reach a better clinical management of patients and their families, representatives of four Parents' Associations were also recruited: Italian Association of Down People, Cornelia de Lange National Volunteer Association, Italian Federation of Rare Diseases, and Williams Syndrome People Association. They worked from September 2019 to November 2020 to achieve a consensus on the recommendations for the communication of a new diagnosis of genetic disease. Results: The consensus of experts drafted a final document defining the recommendations, for the neonatologist and/or the pediatrician working in a fist level birthing center, on the first communication of genetic disease or malformation syndrome diagnosis. Although there is no universal communication technique to make the informative process effective, we tried to identify a few relevant strategic principles that the neonatologist/pediatrician may use in the relationship with the family. We also summarized basic principles and significant aspects relating to the modalities of interaction with families in a table, in order to create an easy tool for the neonatologist to be applied in the daily care practice. We finally obtained an intersociety document, now published on the websites of the Scientific Societies involved. Conclusions: The neonatologist/pediatrician is often the first to observe complex syndromic pictures, not always identified before birth, although today more frequently prenatally diagnosed. It is necessary for him to know the aspects of genetic diseases related to communication and bioethics, as well as the biological and clinical ones, which together outline the cornerstones of the multidisciplinary care of these patients. This consensus provide practical recommendations on how to make the first communication of a genetic disease /malformation syndrome diagnosis. The proposed goal is to make easier the informative process, and to implement the best practices in the relationship with the family. A better doctor-patient/family interaction may improve health outcomes of the child and his family, as well as reduce legal disputes with parents and the phenomenon of defensive medicine. [ABSTRACT FROM AUTHOR]

Severe infections represent the main cause of neonatal mortality accounting for more than one million neonatal deaths worldwide every year. Antibiotics are the most commonly prescribed medications in neonatal intensive care units (NICUs) and in industrialized countries about 1% of neonates are exposed to antibiotic therapy. Sepsis has often nonspecific signs and symptoms and empiric antimicrobial therapy is promptly initiated in high risk of sepsis or symptomatic infants. However continued use of empiric broad-spectrum antibiotic treatment in the setting of negative cultures especially in preterm infants may not be harmless. The benefits of antibiotic therapy when indicated are clearly enormous, but the continued use of antibiotics without any microbiological justification is dangerous and only leads to adverse events. The purpose of this review is to highlight the inappropriate use of antibiotics in the NICUs, to exam the impact of antibiotic treatment in preterm infants with negative cultures and to summarize existing knowledge regarding the appropriate choice of antimicrobial agents and optimal duration of therapy in neonates with suspected or culture-proven sepsis in order to prevent serious consequences. [ABSTRACT FROM AUTHOR]