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.

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.

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.

[The Smith-Lemli-Opitz syndrome--case report, early diagnosis].

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.

[Leptin concentration in umbilical cord blood and maternal blood].

We investigated leptin concentration in umbilical cord blood of 51 newborns (mean 5.71 +/- 3.28 ng/ml) and in maternal blood (mean 22.