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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. [ABSTRACT FROM AUTHOR]

In order to further understand neonatal stress and, thus, control it efficaciously, there is a need for more information on the manifestations of stress at the molecular level in the newborn, with particular regard to oxidants, and anti-oxidant and anti-stress mechanisms, including mitochondrial heat shock protein-chaperones such as Hsp60. We investigated patterns of anti-oxidants, biomarkers of oxidative stress, and Hsp60 levels in sera from newborns and found significant associations between glutathione (GSH) levels and gestational age, delivery modality, and lipid hydroperoxydes (LOOH) level. LOOH levels and spontaneous (vaginal) delivery were independently associated with increased GSH levels when these were above the median. Hsp60 and LOOH levels were positively correlated whereas Hsp60 and GSH levels were inversely correlated in spontaneously delivered newborns; in contrast, Hsp60 and GSH levels were positively correlated in newborns delivered by cesarea. Our results point to new directions in the search for definite patterns of GSH, LOOH, and Hsp60 in the newborn's serum that might have functional and diagnostic significance and that could help in the monitoring of newborn health during and after delivery. In addition, the data provide a starting basis for investigating the precise roles and interplay of GSH and Hsp60 in the maintenance of an optimal redox balance at birth to cope with the stress inherent to delivery, and also for investigating the predictive value of any given pattern of GSH, LOOH, and Hsp60 at birth with regard to health status and risk of disease in adult life. [ABSTRACT FROM AUTHOR]

The objective of our study was to evaluate the capability of the metabolomics approach to identify the variations of urine metabolites over time related to the neonatal fungal septic condition. The study population included a clinical case of a preterm neonate with invasive fungal infection and 13 healthy preterm controls. This study showed a unique urine metabolic profile of the patient affected by fungal sepsis compared to urine of controls and it was also possible to evaluate the efficacy of therapy in improving patient health. [ABSTRACT FROM AUTHOR]

Neonates hospitalized in NICU are at risk for healthcare associated infections because of their poor immune defenses, related to gestational age, colonization of mucous membranes and skin with nosocomial microorganisms, exposure to antibiotics, invasive procedures and frequent contacts with healthcare workers (HCWs). Healthcare associated infections are the major source of morbidity and mortality in NICU in the developed world. Most infections are caused by Gram-positive organisms, fulminant sepsis are often associated to Gram-negative organisms, fungal sepsis occurs frequently in ELBW infants. Hand hygiene is the most important preventive procedure, nevertheless hand hygiene compliance among HCWs remains low. Continuous educational strategies can improve hand hygiene and contribute to reducing the incidence of neonatal infections. Other important prevention strategies include early enteral feeding with human milk, minimization and safety in the use of invasive devices, limiting unnecessary empiric broadspectrum antibiotics, eventual use of lactoferrin bifidobacteria and lactobacilli, prophylactic administration of fluconazole in VLBW. Emergence of multi drug resistant organisms (MDRO) is a worrying perspective. Methicillin-resistant Staphylococcus aureus (MRSA) is an important healthcare-associated pathogen. Active surveillance culturing for MRSA carriers, in combination with contact precautions and decolonization in some hyperendemic settings, has been proved to reduce MRSA transmission and infection rates. Multidrug-resistant Gram-negatives are frequently reported. Overuse of antimicrobial drugs and crosstransmission via caregiver hands, contaminated equipment or inanimate objects are the major drivers of selection and dissemination. Strategies to control outbreaks of MDRO colonization/infection in the NICU may include performing hand hygiene, cohorting and isolating patients, screening healthcare workers and performing admission and periodic surveillance cultures. [ABSTRACT FROM AUTHOR]

Abstract: A newborn with an unusual association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta is presented. At birth, the large hepatic mass caused severe respiratory distress necessitating early surgical intervention. This report on the association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta strongly suggests a common pathogenetic origin of the 2 lesions. [ABSTRACT FROM AUTHOR]

Background: Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may appear as isolated defects (single or complex), or in association with multiple malformations. The high incidence of association of GISM and congenital heart defects (CHD) in patients with syndromes and malformative sequences is known, but less expected is the association of apparently isolated single GISM and CHD. The aim of this study was to investigate the frequency of CHD in newborns with isolated GISM, and the possibility to modify the diagnostic-therapeutic approach just before the onset of cardiac symptoms or complications.Methods: Anamnestic, clinical, and imaging data of newborns requiring abdominal surgery for GISM, between 2009 and 2014, were compared with a control group of healthy newborns. Distribution of GISM and cardiovascular abnormalities were analyzed, and risk factors for adverse outcomes were identified.Results: Seventy-one newborns with isolated GISM were included in this study. More frequent GISM were intestinal rotation and fixation disorders. CHD were observed in 15.5% of patients, augmenting their risk for morbidity. Risk factors for morbidity related to sepsis were identified in central venous catheter, intestinal stoma, and H2-inhibitor-drugs. Moreover, 28.2% of newborns presented only functional cardiac disorders but an unexpectedly higher mortality.Conclusions: The high incidence of congenital heart disease in infants with apparently isolated GISM confirms the need to perform an echocardiographic study before surgery to improve perioperative management and prevent complications such as sepsis and endocarditis. [ABSTRACT FROM AUTHOR]