Extremely low birthweight neonates with phenylketonuria require special dietary management.

AIM: Extremely low birthweight (ELBW) neonates require a high protein intake, but this can be challenging in the very rare cases when they also have phenylketonuria (PKU). This is due to a lack of suitable parenteral nutrition or enteral formula. Our aim was to analyse tolerance to phenylalanine in these infants. MATERIAL: There are approximately 110 000 children born in the Czech Republic each year. A neonatal screening programme from 2005 to 2020 found that 320 neonates had PKU, including 30 premature neonates with a birth weight of less than 2500 g. RESULTS: This study focused on three neonates who were born with ELBWs of 720, 740 and 950 g, respectively. Phenylalanine levels normalised in ELBW neonates with PKU within 1 week of the introduction of low-phenylalanine parenteral or enteral nutrition. The tolerance to phenylalanine was very high (70-110 mg/kg) in the first months of life, due to a rapid weight gain, but significantly decreased during infancy. CONCLUSION: Extremely low birthweight neonates with PKU need special dietary management. Regular assessments of phenylalanine are necessary during the first weeks of life to allow prompt dietary adjustments that reflect rapid weight gain and transitory high tolerance to phenylalanine.

Paediatric Home Parenteral Nutrition in the Czech Republic and Its Development: Multicentre Retrospective Study 1995-2011.

BACKGROUND: Treatment quality and outcomes of paediatric home parenteral nutrition (HPN) program during its development in the Czech Republic. METHODS: A retrospective study of patients receiving HPN from May 1995 till June 2011. RESULTS: Sixty-six patients were treated in 8 centres. In 48 patients, long-term PN began in the first year of life and in 35 of them in the first month. Sixty children had gastrointestinal and 6 had non-gastrointestinal disease. In a majority of the patients, the Broviac catheter was used. Thirty-two (48.5%) patients were weaned from PN after 1-117 months, 21 (32.8%) continued on HPN after 7-183 months, and 13 (19.7%) patients died, all on PN. The mortality in patients with primary gastrointestinal disease was significantly lower than in patients with non-gastrointestinal disease. Thirty-one paediatric patients were receiving HPN for 14,480 catheter days in 2009-2010. Fourteen patients had 23 Catheter Related Blood Stream Infections (CRBSI) episodes. The incidence of CRBSI in 2009-2010 was 1.58/1,000 catheter days. CONCLUSION: Submitted data showed that even in the absence of expert centres, patient care may achieve results comparable to countries with well-developed HPN program. A majority of Czech HPN patients are at present treated in specialized centres, following the most desirable pattern of care.

Early versus delayed surfactant administration in extremely premature neonates with respiratory distress syndrome ventilated by high-frequency oscillatory ventilation.

OBJECTIVE: To determine whether early surfactant administration is superior to selective delayed treatment in terms of improving survival and/or reducing chronic lung disease in extremely premature neonates with respiratory distress syndrome (RDS) treated by high-frequency oscillatory ventilation (HFOV). DESIGN: Prospective randomized clinical trial. SETTING: Tertiary neonatal intensive care unit (NICU) in the Perinatology Center of Prague. PATIENTS: Forty-three extremely premature infants who needed artificial ventilation within 3 h after delivery. INTERVENTIONS: Patients were randomly assigned to either early ( n=21) or delayed (n=22) administration of surfactant. All were ventilated by HFOV as the primary mode of ventilation using the high volume strategy aimed at optimizing lung volume. Curosurf at a dose of 100 mg/kg was given as a single bolus via the endotracheal tube within 1 min immediately after intubation in the early group (EARL), or during HFOV only when defined criteria were reached in the delayed (DEL) group. MEASUREMENTS AND RESULTS: No differences were noted in demographic data between the two groups. Fewer infants randomized to the EARL group required oxygen use or died at 36 weeks (combined outcome 29% vs 64%, p=0.021), and there was a lower incidence of any intraventricular hemorrhage in this group (43 vs 82%, p=0.008). CONCLUSIONS: When compared to delayed dosing, early administration of surfactant followed by HFOV facilitates and accelerates respiratory stabilization during the acute phase of severe RDS, may reduce the incidence of chronic lung disease or death and may positively influence the incidence of severe intracranial pathology in extremely premature infants with primary surfactant insufficiency.

Post-mortem magnetic resonance imaging and its irreplaceable role in determining CNS malformation (hydranencephaly)--case report.

Post-mortem magnetic resonance appears to be a method supplementary to classic pathological-anatomical autopsy in determining foetal abnormalities. Frequently, it plays a key role, primarily where autopsy options are in some way limited (developed autolysis, dilatation of the ventricular system). This case report demonstrates that post-mortem magnetic resonance imaging can precisely determine the type of congenital malformation (hydranencephaly), by contrast to ultrasound, with which alobar holoprosencephaly has been described, often presenting a differential diagnosis problem. Pathological-anatomical autopsy was significantly limited due to this diagnosis and this methodology was incapable of unequivocally determining the type of malformation. We would like to demonstrate by this case report the necessity of performing post-mortem magnetic resonance imaging so that we may precisely determine the diagnosis as requested by the parents and also be able to answer the question posed by risks for future pregnancies.

Induction of uncoupling protein 3 gene expression in skeletal muscle of preterm newborns.

Prematurity is associated with delayed postnatal activation of mitochondrial oxidative phosphorylation and impaired switch from glycolytic to oxidative metabolism. Fatty acids (FA), which represent a major energy substrate in mature muscle cells, are engaged in the postnatal activation of genes of energy metabolism and lipid oxidation. To understand the mechanism activating mitochondria in human newborns, expression of the genes for mitochondrial uncoupling proteins (UCP) was characterized in autopsy samples of skeletal (n = 28) and cardiac (n = 13) muscles of preterm neonates, who mostly died during the first postnatal month, and two aborted fetuses. Transcripts levels for UCP2, UCP3, and also for genes engaged in the transport of FA between cytoplasm and mitochondria were measured using real-time reverse transcriptase PCR. In accordance with studies in mice, our results document postnatal induction of UCP3 gene expression in skeletal muscle, involvement of nutritional FA in the induction, and a role of UCP3 in mitochondrial FA oxidation. They suggest impaired postnatal activation of UCP3 gene in neonates delivered before approximately 26 wk of gestation. Mean levels of the UCP3 transcript in skeletal muscle were by two orders of magnitude higher than in the heart. In contrast to UCP3, the UCP2 gene was active in fetuses, and its expression was not affected by nutrition. Our results support a role of UCP3 in postnatal activation of lipid oxidation in skeletal muscle and suggest the involvement of UCP3 in the delayed activation of mitochondrial energy conversion in very immature preterm neonates.

Fetal anemia, thrombocytopenia, dilated umbilical vein, and cardiomegaly due to a voluminous placental chorioangioma. A case report.

We report a case of voluminous placental chorioangioma diagnosed by ultrasound and color Doppler imaging during the 20th week of pregnancy. The size of the tumor was enlarging progressively (up to 10 cm in the 32nd week), and during this time the signs of fetal intrauterine volume overload and blood cell consumption, such as cardiomegaly, umbilical vein dilation, hydramnios, anemia, and thrombocytopenia, were observed. In the 32nd week of pregnancy, the signs of uteroplacental insufficiency and fetal hypoxia appeared; therefore, the pregnancy was terminated by cesarean section, and a female infant weighing 1,870 g was delivered. She was discharged, fully recovered, after 48 days. Histopathological examination of the placental tumor showed a benign, vascular-type chorioangioma.