De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations

We report on 2 unrelated patients who had chromosome analysis performed because of psychomotor delay, Failure to thrive, and minor anomalies. Each patient had a novel proximal 14q deletion (q11.2 to q21.1 in patient 737 and q12 to q22 in patient 777). Polymorphic (C-A)_n microsatellite markers distributed along the length of chromosome 14q were examined in both patients and their parents in order to determine which marker loci were deleted. The deletion in patient 737 was found to be paternal in origin, based on the analysis of 2 marker loci (D14S54 and D14S70), thus assigning these loci to the deleted interval q11.2 q21.1. Furthermore, 3 loci were not deleted (TCRD, D14S50, and D14S80), suggesting that they are within or proximal to 14q11.2. In the other family (patient 777), none of the markers were fully informative, but the deleted chromosome was determined to be paternally derived based on cytogenetic heteromorphisms. Despite having overlapping proximal 14q deletions, these 2 patients shared few phenotypic similarities except for failure to thrive, micrognathia, and hypoplasia of the corpus callosum. Therefore, a distinct proximal 14q deletion syndrome is not yet apparent. However, the molecular analyses facilitated the localization of several 14q DNA markers to the deletion regions in these 2 patients, while excluding other markers from each deletion. © 1994 Wiley-Liss, Inc.     

A longitudinal study of the IgG antibody response to HIV-1 p17 gag protein in HIV-1+ patients with haemophilia: titre and avidity.

The IgG response to HIV-1 p17 gag protein was studied for up to 6 years in 12 HIV-1-infected patients with haemophilia, who had seroconverted between 1982 and 1985. To assess any prognostic value, p17 IgG titres were compared with p24 IgG titres, CD4 cell counts and p24 antigenaemia. p17 IgG avidity index was also examined. A strong similarity was found between the IgG titre to HIV-1 p17 and that to p24. In patients who developed AIDS the decline in p17 IgG titres could precede by several years the drop in CD4 cells to under 200 cells/microliters; whereas some long-term asymptomatic patients (CDCII) had increasing p17 IgG titres and stable CD4 cell counts. Declining p17 and p24 IgG titres were not always associated with an increase in p24 antigenaemia. IgG titres were found to be better predictors of disease progression than CD4 cell counts or p24 antigenaemia. Patients who developed AIDS during the study were also characterized by a lower p17 IgG avidity than patients who remained asymptomatic. This result suggests that IgG avidity could have prognostic relevance and be of importance for host resistance to AIDS onset.     

Relationship between frequency and amplitude of myocardial contractions in rats adapted to heat

After preliminary adaptation of rats to heat (for 3 h daily at 35°C for 1 month) the amplitude of contractions of the isolated papillary muscles from the left ventricle at 28°C at high frequency was higher than in control animals. This difference persisted at 36°C and disappeared at 25°C. It is postulated that adaptation to heat leaves a definite structural imprint in heart muscle cells.Laboratory of Pathophysiology of the Heart, Institute of General Pathology and Pathological Physiology, Academy of Medical Sciences of the USSR, Moscow. Institute of Physiology and Experimental Pathology of the Arid Zone, Academy of Sciences of the Turkmenian USSR, Ashkhabad. (Presented by Academician of the Academy of Medical Sciences of the USSR A. M. Chernukh.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 82, No. 10, pp. 1168–1170, October, 1976.     

Demonstration of T4, T8, M1 and B7 determinants on human T cells with a rosette test: implications for the assay specificity of monoclonal antibodies

Under optimal test conditions significantly more freshly isolated human T cells reacted with OKT4, OKT8, OKM1 and OKB7 monoclonal antibodies (Mabs) in the indirect antiglobulin rosetting reaction (IARR) than by indirect immunofluorescence. Rabbit erythrocytes (E) coated with anti-mouse immunoglobulin were more sensitive indicator cells in the IARR than similarly coated sheep E. Treatment of T cells with neuraminidase further enhanced T cell reactivity in the IARR with each Mab so that an average of 60% or more of T cells were T4+, T8+ and M1+ and at least 40% had the T4+ T8+ phenotype. The various findings suggest that the rosette assay detects determinants on T cells that are expressed below the detection threshold of immunofluorescence. Moreover, these findings indicate that the cellular specificities of a particular Mab may change when one assay system is substituted for another or when the protocol of a particular assay is altered.     

Activation of μ-opiate receptors as a factor of regulation of heart resistance to ischemia-reperfusion and oxidative stress

Intravenous injection of the selective μ-opiate receptor agonist DAMGO (0.1 mg/kg, 15 min before isolation of the heart) improved resistance of isolated perfused rat heart to ischemia (45 min) and reperfusion (60 min) damages.In vivo administration of DAMGO prevented reperfusion-induced damages to cardiomyocytes and decreased the content of conjugated dienes in the myocardium during ischemia-reperfusionin vitro. Furthermore, stimulation of μ-opiate receptors promoted recovery of myocardial contractility during reoxygenation, but had no effect on heart resistance to free radical-induced damages during perfusion of isolated heart with a solution containing Fe²⁺ and ascorbic acid. Translated fromByulleten’ Eksperimental’noi Biologii i Meditsiny, Vol. 130, No. 8, pp. 163–167, August, 2000     

Simultaneous Detection of ACP1 and GC Genotypes Using PCR/SSCP

The classical enzyme and protein markers ACP1 and GC have gained new importance because of the biological functions of their gene products. ACP1 encodes a low molecular weight enzyme which is now recognized as a phosphotyrosine phosphatase with a role in the regulation of signal transduction pathways, and GC‐globulin acts both as a transporter of vitamin D and as a plasma actin scavenger and plays a role in macrophage activation. These two polymorphisms were phenotyped for decades on the basis of electrophoretic isozyme or protein patterns; the gene structures are now known. Nucleotide substitutions determining the common alleles are close enough at each locus to be contained in one short PCR product. We have developed a simple, rapid and reliable multiplex method based on PCR and SSCP which allows the simultaneous determination of the common ACP1 and GC genotypes.     

Mechanism of action of baclofen on myocardial and vascular contractility

Department of Anatomy and Physiology of Man and Animals, A. I. Gertsen Leningrad Pedagogic Institute. Department of Pharmacology, Academician I. P. Pavlov First Leningrad Medical Institute. (Presented by Academician of the Academy of Medical Sciences of the USSR A. V. Val'dman.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 106, No. 10, pp. 436–438, October, 1988.     

Action of burn serum on electrical and contractile activity of the homoiothermic myocardium

In experiments on isolated rabbit papillary muscles the action of burn serum (BS) obtained 1 h after thermal injury to rabbits was studied. During stimulation varying in frequency between 0.1 and 2 Hz isometric contractions and action potentials (AP) of myocardial cells were recorded. BS (diluted 1:1 in Tyrode solution) inhibited the contractile activity of the papillary muscles, increased the duration of AP, and reduced the duration of the contractile response. Inotropic effects on the rhythm of contractions remained unchanged: An increase in the frequency of stimulation to 2 Hz led to an increase in the amplitude of contractions. Inhibition of the contractile response increased progressively with an increase in the duration of perfusion of the preparations with BS. Addition of 6.4 mM Ca⁺⁺ to the solution of BS caused only a temporary increase in contractions, and rinsing the preparations with Tyrode solution did not result in complete recovery of the orginal contractions. It is concluded that humoral factors play an important role in the disturbance of the contractile properties of heart muscle during burn shock.Laboratory of Biophysical Research, A. V. Vishnevskii Institute of Surgery, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR M. I. Kuzin.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 88, No. 8, pp. 157–159, August, 1979.