The OSR1 rs12329305 polymorphism contributes to the development of congenital malformations in cases of stillborn/neonatal death.

Background: Involvement of development-related gene polymorphisms in multifactorial/polygenic etiology of stillborn/neonatal deaths due to malformations has been insufficiently tested. Since these genes showed evolutional stability and their mutations are very rare, we can assume that their polymorphic variants may be a risk factor associated with the occurrence of developmental disorders of unknown etiology or can enhance the phenotypic variability of known genetic disorders.

Material And Methods: To determine the association of 3 polymorphisms involved in the regulation of the early embryonic development of different organs, we conducted an association study of their relation to the particular malformation.

Increased frequency of micronuclei in mononucleated lymphocytes and cytome analysis in healthy newborns as an early warning biomarkers of possible future health risks.

Impact of intrauterine development on health risks during adolescence and adulthood still needs to be investigated. The aim of study was to compare genome damage in newborns and mothers using the cytokinesis blocked micronucleus assay, nuclear division index (NDI), and centromere fluorescence in situ hybridization. The study was performed on 92 mothers and their newborns.

[The unclassifiable myeloproliferative neoplasm--morphological, cytogenetic and clinical features].

Myeloproliferative neoplasm, unclassifiable (MPN,U) has clinical, laboratory and morphological features of an MPN but fails to meet the criteria for any of the specific MPN entities. Because overlapping features, morphological findings in bone marrow, BCR-ABL1 fusion gene, V617F JAK2 mutation and cytogenetic abnormalities were analyzed in ten patients diagnosed with MPN,U. Bone marrow biopsy showed hypercellularity with trilineage myeloproliferation, dispersed megakaryocytes with mild pleomorphism and mature nuclei, and absence of reticulin fibrosis.