Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse.

Pyridoxine-dependent epilepsy is a rare autosomal recessive disease usually associated with neonatal seizures that do not respond to common antiseizure medications but are controlled by pyridoxine administration. Because the symptoms can mimic common neonatal disorders, the diagnosis can be initially missed or delayed. We report a fatal case of a boy who was initially diagnosed with respiratory distress, birth asphyxia, and persistent pulmonary hypertension and whose condition rapidly deteriorated during the first day of life.

High Rate of Cytomegalovirus Detection in Cholestatic Preterm Infants.

To evaluate the prevalence of cytomegalovirus (CMV) infection in preterm infants with cholestasis. Preterm infants (<37 weeks gestational age) with cholestasis were tested for CMV DNA using Taqman PCR in blood cells from sedimented whole blood, plasma, and urine. Infants were regarded as positive for CMV if any sample was tested positive.

A Case of Severe Infant-to-Placenta Hemorrhage in Association with Prolonged Delayed Cord Clamping.

BACKGROUND Delayed cord clamping is a well-established and evidence-based clinical practice which has improved the outcomes of many infants. Because of the positive effects of delayed cord clamping, non-evidence-based practices, including delaying cord clamping for up to 1 h until complete non-severance of the placenta, are becoming more widespread. CASE REPORT A full-term infant, born vigorous and well at a hospital, was hypotonic and poorly perfused at 50 min of age.

Altered Intracellular ATP Production by Activated CD4+ T-Cells in Very Preterm Infants.

. The neonatal immune system is not fully developed at birth; newborns have adequate lymphocytes counts but these cells lack function. .

Bi-level CPAP does not change central blood flow in preterm infants with respiratory distress syndrome.

Background: Current literature provides limited data on the hemodynamic changes that may occur during bi-level continuous positive airway pressure (CPAP) support in preterm infants. However, the application of a positive end-expiratory pressure may be transmitted to the heart and the great vessels resulting in changes of central blood flow.

Objective: To assess changes in central blood flow in infants with respiratory distress syndrome (RDS) during bi-level CPAP support.

Pilot observational study on haemodynamic changes after surfactant administration in preterm newborns with respiratory distress syndrome.

Background: Surfactant treatment reduces respiratory morbidity and mortality in preterm infants. Data on its haemodynamic consequences are conflicting. The aim was to characterise the haemodynamic effects of surfactant treatment on cardiac function in preterm newborns with respiratory distress syndrome (RDS).

Respiratory syncytial virus infection in infants and correlation with meteorological factors and air pollutants.

Background: Respiratory Syncytial Virus (RSV) is the most important cause of severe respiratory infections in infants with seasonal epidemics. Environmental factors (temperature, humidity, air pollution) could influence RSV epidemics through their effects on virus activity and diffusion.

Methods: We conducted a retrospective study on a paediatric population who referred to our Paediatric Emergency Unit in order to analyze the correlation between weekly incidence of RSV positive cases during winter season in Bologna and meteorological factors and air pollutants concentration.

Urinary neutrophil gelatinase-associated lipocalin at birth predicts early renal function in very low birth weight infants.

Preterm infants are exposed to conditions that can impair renal function. We evaluated the ability of serum and urinary neutrophil gelatinase-associated lipocalin (sNGAL and uNGAL) to predict renal function in the first weeks of life. From September 2008 to July 2009, infants weighing ≤1500 g at birth with no major congenital anomalies or sepsis were eligible.

Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1.

Generalized arterial calcification of infancy (GACI) is a rare condition characterized by arterial calcification within the internal elastic lamina associated with intimal proliferation, leading to stenosis of great and medium-sized vessels. This disease, caused by mutations in multiple exons of ENPP1, frequently results in death in infancy. Nowadays, the most promising therapeutic compounds for this rare disease are bisphosphonates.