Cystic fibrosis (CF) is the most common life-limiting inherited disease in Caucasian populations, affecting approximately 80,000 people worldwide. CF is a complex multi-organ monogenic autosomal recessive disorder caused by a mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene. Since the discovery of the CFTR gene in 1989, more than 2000 mutations have been identified so far and about 240 can cause CF. Until recently, the treatment for CF was aimed to prevent and manage the manifestations of CFTR dysfunction, primarily recurrent pulmonary infections and pancreatic exocrine failure. Over the past few decades, the therapeutic approach to CF has been revolutionized by the development of a new class of small molecules called CFTR modulators that target specific defects caused by mutations in the CFTR gene. CFTR modulators have been shown to change profoundly the clinical course of the CF, leading to meaningful improvements in the lives of a large proportion of people of CF heterozygous for F508del, especially if started in young children. Further studies are needed to extend the use of triple CFTR modulation therapy also for young children in order to prevent the irreversible effects of the disease and for patients with very rare mutations with a personalized approach to treatment.

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Sudden infant death syndrome (SIDS) is defined as “the sudden death of an infant under 1 year of age which remains unexplained after thorough investigation including a complete autopsy, death scene investigation, and detailed clinical and pathological review”. A significant decrease of SIDS deaths occurred in the last decades in most countries after the beginning of national campaigns, mainly as a consequence of the implementation of risk reduction action mostly concentrating on the improvement of sleep conditions. Nevertheless, infant mortality from SIDS still remains unacceptably high. There is an urgent need to get insight into previously unexplored aspects of the brain system with a special focus on high-risk groups. SIDS pathogenesis is associated with a multifactorial condition that comprehends genetic, environmental and sociocultural factors. Effective prevention of SIDS requires multiple interventions from different fields. Developing brain susceptibility, intrinsic vulnerability and early identification of infants with high risk of SIDS represents a challenge. Progress in SIDS research appears to be fundamental to the ultimate aim of eradicating SIDS deaths. A complex model that combines different risk factor data from biomarkers and omic analysis may represent a tool to identify a SIDS risk profile in newborn settings. If high risk is detected, the infant may be referred for further investigations and follow ups. This review aims to illustrate the most recent discoveries from different fields, analyzing the neuroanatomical, genetic, metabolic, proteomic, environmental and sociocultural aspects related to SIDS.

: Necrotizing enterocolitis is one of the most frequent and severe gastrointestinal diseases that affect preterm newborns in Neonatal Intensive Care Units. It was firstly described in 1960s, but this clinical entity was not widely recognized until the advent of modern neonatal intensive care. The disease is characterized by submucosal edema, infiltration of intestinal wall by immune cells, specifically neutrophils and, in severe forms, wall necrosis that leads to intestinal perforation. Its incidence is inversely associated to birth weight and gestational age. Necrotizing enterocolitis has been responsible for high rates of morbidity and mortality (15-30%), despite improvements made in neonatal care in the last decades. The challenge is to optimize strategies for early diagnosis, define the best medical and surgical treatments and standardize preventive measures. Several biomarkers have been proposed for early prediction of necrotizing enterocolitis onset in preterm newborns and can be useful not only for diagnostic purposes but also for prediction of disease progression and severity. The purpose of this paper is to illustrate the most recent evidence regarding diagnosis and prevention of necrotizing enterocolitis. The manuscript contributes knowledge in guiding clinical decision-making in preterm neonates at high risk of developing necrotizing enterocolitis.

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