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Background: In late preterm infants born in nontertiary hospitals, the occurrence of respiratory distress syndrome requires postnatal transport. This study aimed to investigate the impact of the timing of surfactant administration in late preterm infants needing postnatal transport. Methods: This is a retrospective study evaluating surfactant administration in late preterm infants during emergency transports by the Eastern Veneto Neonatal Emergency Transport Service between January 2005 and December 2019. The outcome measures included short-term clinical complications, stabilization time, oxygen concentration, duration of mechanical ventilation and noninvasive respiratory support, length of hospital stay, bronchopulmonary dysplasia, intraventricular hemorrhage, and sepsis. Results: Surfactant was administered to 155/303 neonates (51.1%) at 3 different time points: at a referring hospital (50 neonates), when the transport team arrived (25 neonates), or at a referral hospital (80 neonates). Stabilization time was longer in neonates receiving surfactant by the transport team (adjusted mean difference 17 min, 95% confidence interval, 4–29 min; p = 0.01). Decrease in oxygen concentrations during the transport was larger in neonates receiving surfactant at a referring hospital (adjusted mean difference −11%, 95% confidence interval, −15 to −3%; p = 0.01). The other outcome measures were not statistically different according to the timing of surfactant administration. Conclusions: In late preterm infants with respiratory distress needing postnatal transfer, stabilization time was longer when the first surfactant was administered by the transport team, but such delay did not affect safety and clinical outcomes. [ABSTRACT FROM AUTHOR]

Unarousable child with short bowelA 4-year-old boy was admitted with progressive lethargy of a few hours' duration and no other symptoms. His medical history was relevant for short bowel syndrome (SBS), following neonatal volvulus, with residual bowel length of 23 cm and intact ileocecal valve. He had similar self-limiting episodes in the past, after weaning parenteral nutrition, especially after eating large meals. The day before, he had consumed a large amount of apples.Arterial blood gas (ABG) analysis showed metabolic acidosis with normal lactacidaemia (pH 7.09, pCO2 19 mm Hg, pO2 101 mm Hg, HCO3 5.8 mmol/L, BE -24, anion gap 29.4, chloride 116 mmol/L, L-lactate level 4 mmol/L).On admission, the child could be awakened, but he was confused with slurred speech (Glasgow Coma Scale 14), with a body temperature of 37 C°, a heart rate of 125 beats/min and a respiratory rate of 38 breaths/min. The abdomen was distended, without guarding and with normal bowel sounds. Blood glucose levels were normal, as well as white blood cell count, liver and kidney function test and C reactive protein. An abdominal ultrasound ruled out an intussusception. An abdominal X-ray was performed too (see figure 1).edpract;107/3/196/F1F1F1Figure 1Abdominal distension with gas and bloating. QUESTIONS: Which is the most likely diagnosis?EncephalitisD-lactic acidosisDehydration with third space fluid collection and acidosisHereditary fructose intolerance.How is this diagnosis confirmed?D lactic dosageBreath test for bacterial overgrowthUrine organic acid dosageSearch for reductive substances in the stools.How should this patient be managed?Intravenous fluids to facilitate D-lactic excretionRestrict carbohydrates in the dietIntravenous bicarbonatesAntibiotic treatment to reduce bowel bacterial overgrowth. Answers can be found on page 2. [ABSTRACT FROM AUTHOR]

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations. [ABSTRACT FROM AUTHOR]

Acute graft-versus-host disease (GvHD) remains the second leading cause of death, after disease relapse, in patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT). The medical records of 112 pediatric patients who underwent allo-HSCT from matched unrelated and haploidentical donors were analyzed. Patients were divided into two groups, according to the GvHD prophylactic regimen used. In the control group, GvHD prophylaxis consisted of cyclosporine A (CsA) and methotrexate (MTX) or CsA and mycophenolate mofetil (MMF) at a standard daily dose of 30 mg/kg. All subjects in the study group received tacrolimus (FK506) and MMF. In this group, MMF was subjected to therapeutic drug monitoring (TDM) through mycophenolic acid (MPA) area under the curve AUC0–12. We found a statistically significant difference in both overall acute GvHD (p < 0.0001) and overall chronic GvHD (p < 0.05) incidence between the study and the control group. The initial daily MMF dose and the age at transplant in the study group proved to be inversely correlated (r = −0.523, p < 0.0001). The children under six years of age required a significantly higher daily MMF dose (p < 0.008). This study showed that pharmacological monitoring of MPA AUC0–12 concentration allowed a reduction in the incidence of acute and chronic GvHD. MMF showed age-dependent pharmacokinetics due to greater drug clearance in younger children. [ABSTRACT FROM AUTHOR]

We evaluated the long-term prognosis of patients featuring the association of absence s and myoclonic epilepsy of infancy. Our cohort consisted of 10 male subjects with mean age at seizure onset of 29 months. Follow-up data included seizure outcome and EEG findings. All individuals received antiepileptic drugs (AEDs) as monotherapy (6 patients) or polytherapy (4 patients) for a mean period of 24 months. Over a 30–60 month evaluation period (mean: 43 months), all patients were seizure-free. Follow-up data after withdrawal of antiepileptic therapy were obtained for a mean period of 22 months. None of the children did develop other age-related epileptic syndrome after AEDs discontinuation. Furthermore, follow-up EEG data after drugs withdrawal were normal and none of the patients showed cognitive impairment. In conclusion, we confirm that absence seizures may occur in association with myoclonic epilepsy of infancy. This condition shows excellent prognosis with either favourable neurologic development and seizure outcome in these children. [ABSTRACT FROM AUTHOR]