Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.

TBX4 gene, located on human chromosome 17q23.2, encodes for T-Box Transcription Factor 4, a transcription factor that belongs to the T-box gene family and it is involved in the regulation of some embryonic developmental processes, with a significant impact on respiratory and skeletal illnesses. Herein, we present the case of a female neonate with persistent pulmonary hypertension (PH) who underwent extracorporeal membrane oxygenation (ECMO) on the first day of life and then resulted to have a novel variant of the TBX4 gene identified by Next-Generation Sequencing.

Magnetic Resonance Biomarkers and Neurological Outcome of Infants with Mild Hypoxic-Ischaemic Encephalopathy Who Progress to Moderate Hypoxic-Ischaemic Encephalopathy.

Background: There is increasing concern that infants with mild hypoxic-ischaemic encephalopathy (HIE) may develop seizures and progress to moderate HIE beyond the therapeutic window for cooling.

Objective: The aim of this study was to examine the effect of therapeutic hypothermia on magnetic resonance imaging (MRI) biomarkers and neurological outcomes in infants with mild HIE and seizures within 24 h after birth.

Methods: This study shows an observational cohort study on 366 (near)-term infants with mild HIE and normal amplitude-integrated electroencephalography background.

Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation.

Noonan syndrome (NS) is a multisystemic disorder caused by germline mutations in the Ras/MAPK cascade, causing a broad spectrum of phenotypical abnormalities, including abnormal facies, developmental delay, bleeding diathesis, congenital heart disease (mainly pulmonary stenosis and hypertrophic cardiomyopathy), lymphatic disorders, and uro-genital abnormalities. Multifocal atrial tachycardia has been associated with NS, where it may occur independently of hypertrophic cardiomyopathy. Trametinib, a highly selective MEK1/2 inhibitor currently approved for the treatment of cancer, has been shown to reverse left ventricular hypertrophy in two RIT1-mutated newborns with NS and severe hypertrophic cardiomyopathy.

Continuous glucose monitoring profile during therapeutic hypothermia in encephalopathic infants with unfavorable outcome.

Background: The relation between glucose homeostasis and outcome in hypoxic-ischemic encephalopathy (HIE) is unclear. To investigate whether glucose abnormalities assessed by using continuous interstitial glucose monitoring (CGM) correlate with later neurological outcomes in HIE.

Methods: Prospective cohort study recruiting full-term neonates who received therapeutic hypothermia for HIE.

Electrocardiographic and echocardiographic changes during therapeutic hypothermia in encephalopathic infants with long-term adverse outcome.

Aim: To assess the electrocardiography and echocardiography changes during therapeutic hypothermia and rewarming period in encephalopathic infants with long-term adverse neurological outcome.

Methods: Prospective multicentre longitudinal study. We included 64 consecutive infants with moderate or severe hypoxic ischaemic encephalopathy undergoing therapeutic hypothermia who had 18-24 month-outcome data.

Presepsin for the detection of early-onset sepsis in preterm newborns.

Background: Early-onset sepsis (EOS) is responsible for an important fraction of neonatal morbidity and mortality all over the world. The aim of this study was to assess whether presepsin (P-SEP) can be a more accurate biomarker of EOS compared with pro-calcitonin (PCT) and C-reactive protein (CRP).

Study Design: Consecutive preterm neonates (<34 wk gestational age, admitted to Neonatal Intensive Care Unit by 6 h of age and undergoing sepsis evaluation) were recruited as part of a case-matched control study.

The scenarios of shock in newborn infants.

Shock defines a complex dysfunction of organ perfusion, that produces a status of cellular energy failure, resulting from an insufficient supply of oxygen and nutrients to tissues. The diagnosis of shock is very difficult because of the lack of sufficiently sensitive and specific clinical criteria, and is substantially based on the demonstration of an arterial hypotension, an indicator unfit to detect the organ hypoperfusion. It determines the necessity of firmly introducing in the diagnostic run the functional echocardiography, the near infrared spectroscopy and the amplitude – integrated electroencephalography, etc.