Abnormal Biomarkers of Homocysteine Metabolism in Neonates with Conotruncal Heart Defects.

OBJECTIVES: The etiology of conotruncal heart defects (CHD) remains unknown; however relation between homocysteine, folate levels, and congenital heart disease was found. With this perspective in mind, the aim of the study was to investigate biomarkers of homosyteine metabolism pathway in mothers and their neonates with CHD. MATERIAL AND METHODS: Forty-three pairs of mothers and their neonates with CHD and forty pairs of mothers and neonates with nonconotruncal heart defects (non-CHD) were enrolled. The control group (CG) consisted of fifty-nine pairs of mothers and their healthy neonates. For estimating the plasma total homocysteine (tHcy), serum folates, and cobalamin levels, mothers' venous blood samples and umbilical cord blood were taken in all groups. RESULTS: We observed higher tHcy levels in newborns with CHD in comparison to their mothers and to neonates with non-CHD. Cobalamin levels were significantly lower in neonates with CHD compared to other children. Folates and cobalamin levels were lower in CHD mothers compared to their children. CONCLUSIONS: Elevated homocysteine levels in neonates with CHD and folate metabolism disturbances in their mothers were noticed. The observed differences in homocysteine and cobalamin levels between neonates with CHD suggest the influence of various agents disturbing homocysteine metabolic pathways.

Umbilical activin A concentration as an early marker of perinatal hypoxia.

OBJECTIVE: To evaluate activin A as a potential, early marker of perinatal hypoxia and to analyze factors, other than hypoxia, which influence on activin A concentration. METHODS: Umbilical cord blood samples were collected from 86 newborns with gestational age 30-41. Of the 86 newborns, 26 were regarded as hypoxic. Activin A concentrations were measured by means of specific two-site enzyme immunoassays. Activin A concentrations were correlated with newborns' gender, week gestation, mode of delivery and blood gas measurements. RESULTS: Activin A levels were significantly higher in hypoxic than nonhypoxic newborns (medians, minimum and maximum values: 1.516; 0.149 -1.974 versus 0.368; 0.054 - 1.041 ng/mL, p = 0.0452). Activin A concentration was significantly higher in male newborns (p = 0.0074). Activin A levels were lower in term than preterm babies but the differences were not statistically significant (p = 0.2368 in hypoxic, p = 0.2487 nonhypoxic). Mode of delivery did not influence on activin A concentration (p = 0.8293 hypoxic, p = 0.9458 nonhypoxic). The differences of occurrence of intraventricular hemorrhage (IVH) in both group was not statistically significant (p = 0.61). CONCLUSIONS: Umbilical artery activin A combined with other markers of hypoxia could be a useful marker of perinatal hypoxia. Concentration of activin A is significantly higher in male newborns. The mode and time of delivery have no influence on activin A concentration.

Plasma homocysteine concentrations in mothers and term and preterm newborns.

AIM: To assess the correlation between homocysteine concentrations and gestational age, gender Apgar score, complications in pregnancy delivery modalities and levels of vitamin B12 and foliate. MATERIAL AND METHODS: Concentration of homocysteine, vitamins-B12, foliate were measured in cord blood and mother blood. There were 40 full-term babies and 38 preterm babies and their mothers. RESULT: The homocysteine concentration in newborns correlated with homocysteine level in mothers. There was no difference in homocysteine level regardless of newborns gender. There was no correlation in the homocysteine concentration of mothers blood and cord blood with the levels of vitamin 812 and foliate. In full-term newborns a significant increase in homocysteine levels in comparison with premature babies was observed (7.2 +/- 1.4 micromol/ vs. 6.4 +/- 1.3 micromo/l; p = 0.01). Additionally negative correlation between the mothers' age and homocysteine concentration (r = -0.23; p = 0.04) and positive correlation between homocysteine concentration in cord plasma and gestation age (r = 0.28; p = 0.01) were found. CONCLUSION: Homocysteine concentration depends on gestational age, Apgar score and mother's age. There is no correlation between homocysteine level and hypertension during pregnancy type of delivery levels of vitamin 812 and foliate. Determination of homocysteine level is therefore of no significant importance in newborns pathophysiology.

[The Smith-Lemli-Opitz syndrome--case report, early diagnosis]. / Zespól Smitha, Lemlego i Opitza--opis przypadku, wczesna diagnostyka.

Smith-Lemli-Opitz syndrome (SLOS) is one of the most frequent metabolic disorders in Poland and manifests itself with multiple congenital anomalies, psychomotor delay and intellectual disability. It is caused by mutations in DHCR7 gene, which codes one of the cholesterol biosynthesis enzymes. Clinical diagnosis of the syndrome is difficult due to lack of pathognomonic features and their variable expression. Despite high carrier frequency in Poland, SLO syndrome is rarely suspected and recognized. Its early diagnosis is essential, mainly because of high genetic risk (25%) as well as possibilities of treatment. Authors present a female-newborn, diagnosed with SLOS during the neonatal period. The diagnosis was based on biochemical and molecular tests. Mutations in DHCR7 gene have been found in both, the child and the parents.

[Leptin concentration in umbilical cord blood and maternal blood]. / Stezenie leptyny w surowicy krwi pepowinowej noworodków i w surowicy krwi ich matek.

We investigated leptin concentration in umbilical cord blood of 51 newborns (mean 5.71 +/- 3.28 ng/ml) and in maternal blood (mean 22.11 +/- 10.95 ng/ml). Leptin concentration in 20 preterm infants (mean 4.73 +/- 2.15 ng/ml) was significantly lower (p < 0.05) than in full-term newborns (mean 6.34 +/- 2.08 ng/ml) and tended to increase according to gestational age and birth weight. We suggested leptin concentration had a role in intrauterine development.