[CONGENITAL DEFICIENCY OF COAGULATION FACTOR V].

The study was designed to investigate the 5 year old girl with rare bleeding disorder -deficiency of coagulation factor V. The diagnosis was based on detail family history, physical examination and para-clinical data analyses. The age of patient, purpura, this has been detected from early age, positive family history, non-controlled, longtime bleeding, inadequate trauma of the tongue, which did not resolve after surgery, strong hypocoagulation, which was slightly improved, after several plasma transfusions. This allowed us to suggest the existence of the congenital coagulopathy, which was confirmed by the investigation of coagulation factors - particularly the deficiency of factor V was detected.

Dispersive x-ray absorption studies at the Fe K-edge on the iron chalcogenide superconductor FeSe under pressure.

The local structure and the electronic properties of FeSe under hydrostatic pressure were studied by means of dispersive x-ray absorption measurements at the Fe K-edge. The pressure dependence of the x-ray absorption near edge structure features seems to follow the behavior of the superconducting transition temperature Tc. The local structure, that has an important impact on the superconducting properties, appears to fall into two regimes: the pressure dependence of the Fe-Fe bond distance shows a clear change in the compressibility at p ∼ 5 GPa; in contrast, the Fe-Se bond distance decreases continuously with increasing pressure with a lower compressibility than the Fe-Fe bond. The results suggest that the pressure dependent changes in Tc of FeSe are closely related to the changes in local structure.

[Clinical value of changes in red blood cell ultrastructure and energy metabolism in children with cystic fibrosis].

In 42 patients of various age (from 1 month to 14 years) with cystic fibrosis were analyzed ultra structure, level of adenylnucleotides and activity ATP-ase of erythrocytes, in order to characterize their membrane and energy metabolism. The studies revealed the changes in erythrocytes in the cases of cystic fibrosis. In the cases of broncho pulmonary form of cystic fibrosis were detected I and II row echinocytes, cone-shaped erythrocytes, also erythrocytes with reach-through hole in center. At mixed form of cystic fibrosis were detected more changes in erythrocytes than in other forms of this disease. Both cone-shaped erythrocytes were more than in other forms of cystic fibrosis. Also there were detected erythrocytes with holes (round, polygonal) in their center. The results of the study provide a more precise diagnosis, in time correction of disorders and a comprehensive assessment of multiple-modality treatment of cystic fibrosis.

A case of DiGeorge syndrome in Georgia.

Patient 6 - year- old boy, with history of recurrent otitis, cleft palate, was admitted to the hospital for fever, abdominal pain; He had high ESR,CRP, low T lymphocytes, VSD. Peritoneal fluid was positive for pseudomona aeroginoza. Diagnosis of DiGeorge syndrome was confirmed by further genetical study. Immune deficiencies should be considered when infections are severe, persistent resistant to standard treatment, or caused by opportunistic organisms. Treatments can often correct many of the critical and immediate problems associated with DiGeorge syndrome such as heart defects, calcium defects, poor immune system functions and cleft palate. People who had poor immune function as children due to small or missing thymus, may have an increased risk of autoimmune disorders, such as a rheumatoid arthritis and Graves disease. Because DiGeorge syndrome can result in so many disorders, a number of specialists should be involved in diagnosing specific conditions, recommending treatments and providing care.

Orexin-A induces long-term depression of nmda responses in CA-1 field of hippocampal slices.

We have studied the effects of orexin-A on NMDA component of registered field potentials in pyramidal (str. pyramidale) and radial layers (st. radiatum) of CA-1 field of the hippocampus. To facilitate generation of NMDA responses in vitro experiments were performed in Mg(2+)- free solution. From field excitatory postsynaptic potential (EPSP), which was induced by stimulation of Schaffer collaterals, NMDA component was isolated using modified physiological solution: bicuculline metiodide (20-40 microM) and CNQX (5 microM) were eddied for removing GABA-ergic inhibition and blocking AMPA-glutamatergic receptor-mediated responses, respectively. Application of orexin-A (100 nM, for 5 -15 min) evoked inhibition of NMDA component of population spike (84.4+/-5%, n=7) and long-term depression of isolated NMDA component of field EPSP, which was made up (77.7+/-2.8%, n=12) comparing with control after 45 min of orexin-A application. Orexin-A mediated depression starts after 7-10 min of application, which is sufficient for NE release from adrenergic terminals in the hippocampus. As the agonist of alpha-adrenoreceptors clonidine completely mimicked the effects of orexin-A possible involvement of adrenergic system of the brain in these effects are considered.

The role of the mGluR allosteric modulation in the NMDA-hypofunction model of schizophrenia.

Schizophrenia is one of the most important forms of psychiatric illness and may be chronic and highly disabling. It has been suggested that specific neurochemical abnormality is due to dopaminergic overactivity in the brain. Schizophrenia is currently thought to be associated with a hypoglutamatergic state that is mimicked by acute Phencyclidine (PCP), an antagonist of the N-methyl-D-aspartate (NMDA) receptor subtype. Administration of PCP or ketamine in rodents has been used to model aspects of schizophrenia. Taken into consideration the role of glutamatergic system in development of schizophrenia and involvement of striatal dopaminergic receptors in generation of schizophrenia symptoms, it was planned to study functional interaction between NMDA and metabotropic glutamatergic receptors 5 (mGluR5) in schizophrenia-associated behavioral and memory disturbance and the role of mGluRs allosteric modulation in cortico-striatal synaptic plasticity. In our experiments investigation of dose-dependent effects of ketamine revealed that 0.3mg/kg ketamine induces statistical changes most of behavioral and cognitive parameters in rats. Changes in emotional state showed decrease of the number and total duration of groomings in open field experiments as wall as in passive avoidance task. Decrease of motor activity was also detected, while no significant changes were observed in number of defecations. In T-maze test it was shown that spatial memory was damaged. To determine whether mGlu5 and NMDA receptor interact to regulate complex behaviors that are relevant to cognitive disorders such as schizophrenia we focused on assessing whether the selective mGlu5 receptor antagonist 2-methyl-6-(phenylethynyl)-pyridine MPEP mimics or exacerbates the effects of the NMDA receptor antagonist. Ketamine-induced memory disturbance was significantly increased after injection of mGluR5 negative allosteric modulators MPEP. In In vitro experiments the agonist at group I metabotropic glutamate receptors (mGluRI) (RS)-3,5-dihydroxyphenyl-glycine (DHPG,100 microM) evoked a persistent depression of the second component (N2) of the cortico-striatal field potential in rat slices. DHPG-induced plasticity was not NMDA-dependent. mGlu5 negative allosteric modulator MPEP diminishes the inhibition of synaptic responses induced by DHPG and completely blocked the late phase of depression. Our behavioral and in vitro data suggested that between NMDA and mGlu5 receptors there are functional interaction. Thus in some neurological or psychiatric disorders with NMDA dysfunction pharmacological manipulation of mGlu5 receptors could have therapeutic use.

[Neurological symptoms of cytomegalovirus infection in children].

Cytomegalovirus is considered as one of the most common causes of congenital infections. Clinical signs of infection are present in newborns whose mothers were infected during pregnancy. Disease is most severe if mother were infected during the first trimester. Congenital cytomegalovirus infection causes damage of CNS (central nervous system) and the liver, atrophy of optical nerve and hearing retardation up to complete loss. The most severe and frequent damage is of CNS. Under our observation were 20 children of different ages, among them 8 newborns. Verification of cytomegalovirus infection was done by ELISA. Polymerase Chain Reaction (PCR) was also used for diagnostic reasons. Examination of CNS was performed by neurosonography, electroencephalography and computed tomography. Four from eight newborns died at the age of 6-8 weeks (in these cases the generalized form of infection with severe damage of CNS was present). In the rest patients treatment with specific anticytomegalovirus immunoglobulin together with syndrome therapy yielded positive effect. Lately moderate retardation of phychomotor development became apparent in all cases. 12 patients, who come to our clinic in the period from 2 months to 1.5 years of age, psychomotor retardation, micro or hydrocephaly, hyperkinesias, absentia (epileptica), convulsive syndrome and malignant hypertension were present. On tomograms intracranial calcificats and cysts, also atrophy of cerebrum and encephalomalacia was visible. Sensory hearing loss was apparent in two patients. The study showed the presence of severe and in most cases irreversible CNS damages in the cases of congenital cytomegalovirus infection.

[Dynamics of succinate dehydrogenase activity to premature infants with hypothalamic brain damage]. / Dinamika aktivnosti suktsinatdegidrogenazy u nedonoshennykh detei s gipotalamicheskimi povrezhdeniiami mozga.

Cytochemical examinations of the activity of lymphocyte succinate dehydrogenase (SDH) and neutrophil alkaline phosphatase (AP) were carried out in 70 prematurely born infants. Later catamnestic observations of the neuropsychic development of these children were carried out up to the age of 6 to 7 years. An analysis of correlations between the cytochemical findings and the data on the neuropsychic status showed a high informative value of the SDH activity level for forecasting subsequent delay of the psychic development, as well as some other neurological syndromes in prematurely born children. The data obtained give one grounds of recommend cytochemical examinations of infants with perinatal hypoxic damage of the brain for forecasting their subsequent neuropsychic development and instituting early correcting and individual therapy.