Update on lipid and protein intakes in the critical newborn

The influence of critical illnesses on adverse outcomes in newborn infants seems to be mediated by nutritional intakes during the first week or few weeks of life. Changes in amounts and ratios of protein and energy, fat quality (medium chain triglycerides, and n-3 long-chain polyunsaturated fatty acids), maintaining normoglycemia during full or partial parenteral nutrition, rate of feeding advancements and avoidance of postnatal growth retardation represent the main items whose roles in critically ill preterm infants have been considered so far. In a condition such as extreme prematurity, feeding higher amounts of amino acids since the first day of life has been shown so far to be safe and effective in terms of metabolic balance, body growth and neurodevelopment outcome. In other clinical conditions and as far as other nutrients are concerned, available data are still limited and do not allow for firm conclusions in most cases. \uc2\ua9 2012 Informa UK, Ltd

The ideal formula for healthy term infants

Ideal composition of formulas should be resulting in effects on growth pattern, biochemical markers and functional outcome comparable with those obtained with exclusive breastfeeding. In terms of composition, minimum and maximum values are based, where available, on adequate scientific data on infant requirements and the absence of adverse effects. Whereas to special components, high beta-palmitate content and LCPUFA supplementation have shown proven benefits. Lactoferrin supplementation holds promising results in terms of growth and immune response. The use either of prebiotics and probiotics alone, or in combination, is still a matter of debate. Other components such as polyamine, nucleotides and peptides are still to be proven of any benefit. Composition of infant formulas should be tailored on providing nutritional or functional benefits. \ua9 2013 Elsevier Ireland Ltd

"The Original Sound": A new non-pharmacological approach to the postnatal stress management of preterm infants

Objective: To evaluate the effect of the exposure to "The Original Sound" (TOS), an original track composed of different sounds such as fetal heartbeat, breathing, blood flow, and ambience sounds, specifically created for this study, on physiological stability of preterm infants during a 10-d hospitalization.Methods: Thirty-four preterm infants (32-37 weeks of gestation) were randomized to receive either TOS or environmental noise. TOS was provided for a 20-min period, three times a day, using two speakers and a MP3 player placed in the cradle. Cardiorespiratory and behavioral parameters were recorded.Results: Heart rate in the treated group was positively correlated with TOS exposure, showing a significant reduction on day 2 and lower values during the first day. A decrease in RR is also recorded on day two in the TOS group, although not significant.Conclusion: This study provides preliminary evidence for short-term improvements in the physiological stability of preterm infants using TOS. Future studies are needed to investigate the potential of this non-pharmacological approach and its clinical relevance to postnatal stress management in neonatal intensive care units

Cor Triatriatum Dexter: Contrast Echocardiography Is Key to the Diagnosis of a Rare but Treatable Cause of Neonatal Persistent Cyanosis

Cor triatriatum dexter (CTD) is an extremely uncommon and underreported congenital cardiac anomaly in which the persistence of the embryonic right venous valve separates the right atrium into two chambers with varying degrees of obstruction to antegrade flow and variable degree of right to left shunt at atrial level. Depending on the size of the valves, clinical manifestations vary from absence of symptoms to severe hypoxia, requiring urgent surgical correction. We herein describe the diagnostic difficulties in a case of neonatal CTD, who developed increasingly severe and unresponsive cyanosis, first interpreted as postnatal maladjustment with pulmonary hypertension. The failure to respond to oxygen and pulmonary vasodilators led us to reconsider a different diagnosis. The use of contrast echocardiography improved the diagnostic performance of transthoracic echocardiogram (TTE) and revealed a massive right-to-left shunt secondary to the presence of an atrial membrane that required urgent surgery

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study

Background: Bronchopulmonary dysplasia (BPD) is the most common chronic lung disease in infancy, affecting preterm children with low birth weight. The disease has a multifactorial aetiology with a significant genetic component; until now published association studies have identified several candidate genes but only few of these data has been replicated. In this pilot study, we approached exome sequencing aimed at identifying non-common variants, which are expected to have a stronger phenotypic effect. Materials and methods: We performed this study on 26 Italian severely affected BPD preterm unrelated newborns, homogeneously selected from a large prospective cohort. We used an Illumina HiSeq 2000 for sequencing. Data analysis was focussed on genes previously associated to BPD susceptibility and to new candidates in related pathways, highlighted by a prioritization analysis performed using ToppGene Suite. Results: By exome sequencing, we identified 3369 novel variants, with a median of 400 variations per sample. The top candidate genes highlighted were NOS2, MMP1, CRP, LBP and the toll-like receptor (. TLR) family. All of them have been confirmed with Sanger sequencing. Conclusions: Potential candidate genes have been discovered in this preliminary study; the pathogenic role of identified variants will need to be confirmed with functional and segregation studies and possibly with further methods, able to evaluate the collective influence of rare variants.Moreover, additional candidates will be tested and genetic analysis will be extended to all affected children

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study

Background: Bronchopulmonary dysplasia (BPD) is the most common chronic lung disease in infancy, affecting preterm children with low birth weight. The disease has a multifactorial aetiology with a significant genetic component; until now published association studies have identified several candidate genes but only few of these data has been replicated. In this pilot study, we approached exome sequencing aimed at identifying non-common variants, which are expected to have a stronger phenotypic effect. Materials and methods: We performed this study on 26 Italian severely affected BPD preterm unrelated newborns, homogeneously selected from a large prospective cohort. We used an Illumina HiSeq 2000 for sequencing. Data analysis was focussed on genes previously associated to BPD susceptibility and to new candidates in related pathways, highlighted by a prioritization analysis performed using ToppGene Suite. Results: By exome sequencing, we identified 3369 novel variants, with a median of 400 variations per sample. The top candidate genes highlighted were NOS2, MMP1, CRP, LBP and the toll-like receptor (. TLR) family. All of them have been confirmed with Sanger sequencing. Conclusions: Potential candidate genes have been discovered in this preliminary study; the pathogenic role of identified variants will need to be confirmed with functional and segregation studies and possibly with further methods, able to evaluate the collective influence of rare variants.Moreover, additional candidates will be tested and genetic analysis will be extended to all affected children