Differential diagnostics of inherited metabolic disorders in newborns.

OBJECTIVE: The aim: To compose an applicable diagnostic checklist for neonatologists, pediatricians, and general practitioners who refer newborns with certain inherited metabolic diseases (IMDs) suspicion to confirmatory testing laboratories. PATIENTS AND METHODS: Materials and methods: Analyzed international and generally, known national clinical guides and recommendations devoted to IMDs diagnostics, treatment and follow up. RESULTS: Results: Considering integral character of the diagnostic work-up of inborn errors of metabolism, authors of this article composed an applicable checklist that comprises set of data necessary for interpretation the positive results of expanded newborn screening and making decision of appropriate biochemical and molecular tests are required for confirmatory follow-up testing to establish the diagnosis and prescribe pathogenetic therapy. CONCLUSION: Conclusions: Properly filled checklist allow metabolic professionals to select appropriate confirmatory tests and interpret results obtained. Early IMDs diagnosis and prompt treatment initiation are crucial for positive outcomes and proved to be an effective tool to decrease levels of child disability and infant mortality.

Effect of enos gene polymorphism on the course of early onset bacterial infections in premature infants.

OBJECTIVE: The aim of the study was to analyze the associations between 4a/4b polymorphism of the eNOS gene and impaired systemic hemodynamics in premature infants with early neonatal sepsis. PATIENTS AND METHODS: Materials and methods: We conducted a prospective cohort study, which included 120 premature babies with early neonatal sepsis, in 57 children the course of the disease was accompanied by arterial hypotension (AH) and in 61 children - not. In children of both groups, genotyping was performed to determine 4a/4b polymorphism of the eNOS gene. RESULTS: Results: It was shown that the heart rate, blood pressure, hourly diuresis, the level of total nitrates and nitrites in the urine, as well as a number of echocardioscopic and dopplerometric indicators in children with different eNOS gene genotypes are not different. CONCLUSION: Conclusions: There is no effect of 4a/4b polymorphism of the eNOS gene on the occurrence of hemodynamic disturbances in premature infants with sepsis.

Learning-induced lateralized activation of the MAPK/ERK cascade in identified neurons of the food-aversion network in the mollusk Helix lucorum.

The MAPK/ERK pathway plays an important role in the regulation of gene expression during memory formation both in vertebrates and invertebrates. In the mollusk Helix lucorum, serotonin induces activation of MAPK/ERK in the central nervous system (CNS) upon food aversion learning. Such learning depends on a neuronal network in which specialized neurons play distinct roles so that they may exhibit different activation levels of the MAPK/ERK pathway. Here we performed a comparative analysis of MAPK/ERK activation in single neurons of the food-aversion network, focusing both on command neurons, which mediate withdrawal behavior and process information pertaining to the unconditioned stimulus, and on neurons of the procerebrum, the mollusk's olfactory center, which process information from the conditioned stimulus. By means of Western blots designed to detect micro amounts of proteins, we determined MAPK/ERK activation in these neurons and found that after food aversion learning phospho-ERK levels increased significantly in RPa(2/3) command neurons of the right parietal ganglia and in the procerebrum. Such an increase was prevented by injection of PD98095, an inhibitor of the ERK upstream kinase (MEK-1). In contrast, no activation of MAPK/ERK was detected in similar conditions in the corresponding neurons of the left parietal ganglia LPa(2/3). This asymmetry was verified after serotonin application to the CNS in order to mimic learning. Our results thus show that learning involves synchronous and asymmetric serotonin-dependent MAPK/ERK activation. Such an asymmetry may reflect lateralization of memory processes in the mollusk brain.