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Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications.

Defining improvements in healthcare can be challenging due to the need to assess multiple outcomes and measures. In neonates, although progress in respiratory support has been a key factor in improving survival, the same degree of improvement has not been documented in certain outcomes, such as bronchopulmonary dysplasia. By exploring the evolution of neonatal respiratory care over the last 60 years, this review highlights not only the scientific advances that occurred with the application of invasive mechanical ventilation but also the weakness of the existing knowledge. The contributing role of non-invasive ventilation and less-invasive surfactant administration methods as well as of certain pharmacological therapies is also discussed. Moreover, we analyze the cost– benefit of neonatal care-respiratory support and present future challenges and perspectives. [ABSTRACT FROM AUTHOR]

Maternal diet before and during pregnancy plays an important role for the developing fetus. Any eating disorder in this period can cause transient or/and permanent negative effects on the mother and her offspring. [ABSTRACT FROM AUTHOR]

Neonatal sepsis is considered critical for a significant increase in neonatal morbidity and mortality among hospitalized neonates. Neonatal sepsis, in most cases, coexists with coagulopathy, which can prove to be life-threatening. Complex molecular and cellular systems are involved in the cross-talk between inflammation and hemostasis during sepsis. Disturbances in the regulating systems of the vascular endothelium, and platelet–endothelial and platelet–neutrophil interactions play a pivotal role in both inflammation and coagulation. This complex process is poorly understood in neonates. In addition to the developmental maturation of hemostasis and the immune response in neonatal sepsis, a cellular model of hemostasis during sepsis should be taken into account. This review focused on the molecular and cellular mechanisms underlying inflammation and hemostasis during neonatal sepsis, taking the developmental immune response and developmental hemostasis into account in order to provide future diagnostic approaches to be applied in everyday clinical settings. Regarding the diagnostic modalities, we briefly provide the limitations of the currently used conventional coagulation assays, focusing on viscoelastic tests and platelet flow cytometry. [ABSTRACT FROM AUTHOR]

Both prophylactic and early surfactant (SF) replacement therapy reduce pulmonary complications and mortality in ventilated infants with respiratory distress syndrome (RDS). The effectiveness of one or more doses and the impact on morbidity and mortality of premature neonates with RDS need to be further clarified. The objective of this study was to investigate the necessity of repeated surfactant replacement therapy in premature infants ≤32 weeks of gestational age and the possibility of an underlying pathology. This study included 126 premature neonates of 24-32 weeks of gestation. We used 200 mg/kg per dose of porcine surfactant (Curosurf®) as primary . treatment and 100 mg/kg in cases that required retreatment. The subjects were classified into two groups: the first group (Group 1) received a single dose of surfactant (n=98) and the second group (Group 2) included infants who required more than one dose (n=28). The 1st dose was administered in the first 20 minutes after birth while the second was given six hours later. In four cases, a 3rd dose was required, that was provided 12 hours after birth. Recorded data included: clinical and radiological classification of RDS, extubation time, oxygenation estimation indexes (OI: oxygenation index, A-aDO2: alveolar-arterial oxygen difference, a/APO2: arterial-alveolar ratio of partial oxygen pressure), requirement and duration of oxygen administration, total duration of mechanical ventilation, and survival rate. Patient Group 1 did not present any radiological findings of RDS of grade 3 or 4 six hours after SF administration, whereas such findings were recorded in three neonates of Group 2. Therefore, we assumed that failure of a single-dosing treatment indicates a more severe RDS and might reflect an underlying pathology. The impact of maternal chorioamnionitis in the neonates that necessitated further replacement therapy was statistically significant (p=0.045); moreover, infection markers were positive in the majority of the patient population of the second group. Twenty-two neonates (22%) of the first group needed intubation in the delivery room compared to 16 (57%) of the second group (p=0.0001). In conclusion, premature infants treated with a single dose of surfactant can usually be successfully extubated. Requirement of retreatment could be attributed to other pathogenetic mechanisms. A positive history of maternal chorioamnionitis was the commonest reason. [ABSTRACT FROM AUTHOR]

Objective: This study reports our institutional experience on the outcome after prophylactic and early rescue endotracheal instillation of surfactant within 20 minutes of birth, followed by extubation and nasal continuous positive airway pressure (NCPAP) in preterm infants <32 weeks gestational age. Patients and methods: A total of 142 infants were prospectively studied (42, gestational age from 23 to 27 and 100, from 28 up to 32 weeks). All infants were electively intubated for administration of 200mg/kg porcine isolated surfactant (Curosurf, Chiesi Farmaceutici SPA, Parma, Italy) as soon as practicably possible (within 20 min after birth) and NCPAP was then initiated. Results: Extubation and switch to NCPAP at 6h was successful in 6/42 (14.3%) infants less than 28 weeks gestational age and 75/100 (75%) infants 28-32 weeks gestational age. Out of 81 infants that were successfully extubated, 76 (93.83%) never required re-ventilation. At 96h of age, need for continuing intubation and ventilation was required by 6/38 (15.8%) alive infants <28 weeks gestational age and 8/100 (8%) infants 28-32 weeks gestational age. Mean duration of NCPAP post-extubation was 38±20 hours for infants 23-27 wks and 29±15 hours for infants 28-32 wks gestational age. The mortality rate was 2.81% (4/142). Conclusion: Implementation of prophylactic or early rescue administration of surfactant with NCPAP in infants at high risk for developing RDS in neonatal ICU is a safe modality of respiratory support in preterm infants. [ABSTRACT FROM AUTHOR]

Abstract: We describe a case of an acquired subglottic cyst presented with persistent stridor and voice hoarsening in a baby diagnosed with Williams–Beuren syndrome that was born premature and required intubation during neonatal period. We also comment on whether this is a coincidence or there can be an association between impaired elastogenesis, a feature of patients with the syndrome and the formation of a subglottic cyst. [Copyright &y& Elsevier]

Intense research for more than three decades expelled the view that neonates do not experience pain. The aim of this survey was to investigate whether the Greek physicians involved in neonatal intensive care have changed their perceptions regarding neonatal pain, adapting their management practices to the knowledge that have emerged in the past 20-years. This study is a survey conducted at two time-points, 20 years apart. Anonymous questionnaires were distributed to 117 and 145 physicians working in neonatal intensive care units (NICUs) all over Greece in years 2000 and 2019, respectively. The response rate was 90.6 and 80.7% in 2000 and 2019, respectively. All respondents, at both time-points, believed that neonates experience pain, which has serious acute and long-term consequences, while the vast majority considered analgesia-sedation (A-S) during painful interventions as obligatory. Utilization of NICU protocols and pain assessment tools remained low although increased significantly between 2000 and 2019. The use of systemic A-S postoperatively was high at both time-points, while its implementation in infants subjected to prolonged pain, specifically mechanical ventilation, increased significantly by 2019. Systemic or local analgesia for acute procedural pain was used by lower proportions of physicians in 2019, except for the tracheal intubation. In contrast, the use of sweet solutions and non-pharmacological measures prior to or during bedside procedures significantly increased over time. Opioid administration significantly increased, while a shift from morphine to fentanyl was observed. International literature and perinatal-neonatal congresses were stated as the main sources of updating physicians' knowledge and improving management practice on neonatal pain prevention and treatment. In conclusion, Greek NICU-physicians' perceptions that neonates can experience pain with potentially serious acute and long-term consequences remained strong over the past 20 years. Although physicians' practices on neonatal pain management improved, they are still suboptimal, while significant differences exist among centers. Continuing education, globally accepted management protocols, and readily applied pain assessment tools would further improve the management of procedural pain and stress in neonates., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Agakidou, Tsoni, Stathopoulou, Thomaidou, Farini, Kontou, Karagianni and Sarafidis.)