Laboratory changes in exo- and endotoxemia in toxicohypoxic encephalopathy occurring with acute poisoning by psychopharmacological agents

Examinations of patients with acute oral poisoning by psychotropic agents have indicated that toxicohypoxic encephalopathy develops, when the high concentrations of toxicants and their active metabolites specifically affect brain structures, resulting in oxidative stress and impaired natural detoxification mechanisms.     

Unification of methods for determining the trace quantities of lead, zinc, sodium and potassium ions in the assessment of drinking water adn transfusion fluid quality

The results of long-term studies made by the Department of General Chemistry, I. M. Sechenov Moscow Medical Academy, that deals with unification of methods for determining some ions of metals (lead, zinc, sodium, and potassium) in the assessment of the quality of drinking water and transfusion fluids are summarized. A procedure was developed to determine the trace impurities of zinc, lead, and silver by atomic absorption spectrometry (AAS) by using sorption concentration. C-80-2-aminothiazole, a new sorbent synthesized at the Research Institute of Polymers, was used to detect these ions in the drinking water. With regards to the chosen optimal conditions, drinking water samples were analyzed via their direct spraying in the air-acetylene flame. The prior sorption concentration determined drinking water zinc and lead ions in the concentrations equal to or less than their permissible dose concentrations. The studies indicated that the used methods to determine the trace quantities of metals in the drinking water and aqueous solutions show a high sensitivity, rapidity, simplicity of sample preparation.     

Sequence Similarities and Evolutionary Relationships of Influenza Virus A Hemagglutinins

This study brings the analysis of amino acid sequences of hemagglutinin (HA) from the influenza virus A that can infect a wide variety of birds and mammals. 191 sequences belonging to all known 15 HA subtypes were compared. The emphasis was given on functional sites (receptor-binding cavity with its right and left edges) and degree of their conservation in each subtype. Three evolutionary trees of 15 avian HA representatives were constructed: one tree based on the alignment of the entire HA sequences and two trees based on the alignment of HA1 and HA2 chains, respectively. The results have shown that, despite low degree of sequence similarity among the 191 sequences of HA1 subunit, the active site is well conserved, and that there are only marginal differences in the clustering of the individual HA subtypes between the two subunit trees. In this respect, the subtype H9 seems to be the most fluctuating example. The proposals of the probable avian HAs that could be the closest relatives to human (mammalian) HAs were also provided for several HA subtypes.     

657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls

Gershoni-Baruch syndrome is a multiple congenital malformation complex characterized by omphalocele, diaphragmatic hernia, cardiovascular abnormalities, and radial ray defects. Autosomal recessive inheritance is suggested. We describe two additional cases from a single family (sister and brother) delivered through termination at 23 and 9 weeks of gestation, respectively. The first fetus showed a spectrum of schisis defects without any limb involvement while the second bore mainly malformations of hands and feet. The occurrence of two different syndromes in the same family is highly improbable, but, considering both malformation complexes as possible manifestations of the same disease, a diagnosis of Gershoni-Baruch syndrome appears the most reasonable. These new familial cases bring further support to the hypothesis of an autosomal recessive inheritance of this syndrome.     

Errors and complications of plastic surgery of defects and false joints of the humerus using free vascularized bone autografts

The authors analyse the errors and the complications in the plasty of defects and false joints of the humerus with free vascularized bone autografts in 20 patients aged 8-50 with the period of duration of the disease from 6 months to 9 years. The size of the defect was 3-20 cm (15 patients). In 17 cases a fibular bone graft on a vascular pedicle was used. In 8 patients 14 various kinds of complications occurred in different combinations. Non-union of one of the ends of the graft was observed most frequently (4) due to faults of osteosynthesis. In all patients consolidation was achieved. In this type of complications the authors advise to make an early repeated intervention with the aim of shortening the duration of treatment and subsequent rehabilitation. They stress the perspective character and the validity of this method of plasty, especially in extensive defects in association with poor vascularization of the injured segment of the extremity. Accurate performance of all stages of the intervention and the surgeon's personal experience play an important role in prevention of errors and complications in employing microsurgical technique in the treatment of this category of patients.     

Cation-osmotic Haemolysis in Patients with Retinal Vein Occlusion

The purpose of this work was to use a new technique to assess erythrocyte deformability in patients with retinal vein occlusion. Erythrocyte microrheology changes were measured by cation-osmotic haemolysis (COH) in healthy donors and in patients with both central (n= 6) and branch (n= 16) retinal vein occlusion up to 12 months after the occlusion. The patient group consisted of five patients with ischaemic and 17 with oedematous vein occlusion. The control group consisted of the same number of age-, sex- and risk factor (hypertension)-matched donors. In patients with retinal vein occlusion, COH was significantly decreased compared to the control group. The decrease was most marked at low and high concentrations of incubating media where the differences reached high statistical significance (p<0.01–0.001). In our previous experiments we showed that COH and erythrocyte deformability (ED) are closely related and that COH reflects basic information about erythrocyte deformability. Thus, decreased COH in patients with retinal vein occlusion points to reduced ED in comparison with the control group. We, therefore, assume that impairment in ED together with other microrheological abnormalities contributes to the pathophysiology of changes in patients with retinal vein occlusion.     

PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: Clinical implications and limitations

Cytogenetic analysis of patients with Ullrich-Turner syndrome (UTS) may fail to detect low levels of Y chromosome mosaicism or Y-derived marker chromosomes. More sensitive polymerase chain reaction (PCR)-based tests have been developed; however, applicability of these data to prognosis of virilization and gonadoblastoma development has not been investigated adequately. We used a multiplex PCR-based method to detect two Y-specific sequences, SRY and AMGLY. Thirteen patients with UTS without cytogenetically detected Y chromosomes were studied. Y-specific sequences were detected in 5 patients by multiplex PCR. A cryptic translocation involving the Y chromosome was found in one patient with severe virilization of external genitalia and a male phenotype. Y chromosomal mosaicism was detected in peripheral blood and in both gonads of one patient, and only in the left gonad of another patient. Existence of a Y-derived marker was demonstrated in 2 patients, one of whom had no testicular tissue or virilization. Consistent with previous reports, we conclude that PCR is more sensitive than classical cytogenetic analysis and detects patients with Y-specific sequences in blood cells. However, the absence of Y-specific material in blood is not a sufficient reason to reject surgical treatment in case of virilization. Am. J. Med. Genet. 76:283–287, 1998. © 1998 Wiley-Liss, Inc.     

Endogenous Cell Type–Specific Disrupted in Schizophrenia 1 Interactomes Reveal Protein Networks Associated With Neurodevelopmental Disorders

Background

Disrupted in schizophrenia 1 (DISC1) has been implicated in a number of psychiatric diseases along with neurodevelopmental phenotypes such as the proliferation and differentiation of neural progenitor cells. While there has been significant effort directed toward understanding the function of DISC1 through the determination of its protein-protein interactions within an in vitro setting, endogenous interactions involving DISC1 within a cell type–specific setting relevant to neural development remain unclear.