[Proper antibiotic use].
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Biomedical subjects
Publications and source records attributed to K Champion.
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OBJECTIVE: The aim of this study was to describe, for the first time, the capillary angio-architecture during pseudoxanthoma elasticum, a rare genetic disease related to mutations in the ABCC6 gene, of which the systemic calcifying involvement is responsible notably for very severe cardiovascular complications. Method Seven patients suffering from clinically and histologically documented confirmed pseudoxanthoma elasticum were examined with capillaroscopy, the absence of concomitant connective tIssue disease or diabetes having been checked beforehand. RESULTS: All the patients exhibited a microangiopathy, characterised by normal capillary density, frequent pericapillary oedema, excessively coiled fibres with a significantly increased number of minor dystrophies and, to varying degrees, a slowing down of capillary blood flow demonstrated by a sludge phenomenon. CONCLUSION: This descriptive study shows that a microangiopathy exists during pseudoxanthoma elasticum. However, the latter is not specific and a double blind controlled study is required to confirm these results. The discovery of genotype/phenotype correlations in this disease would provide a place for capillaroscopy in the diagnostic strategy in young patients or in the assessment of the cardiovascular involvement.
Escherichia coli NZN111 is blocked in the ability to grow fermentatively on glucose but gave rise spontaneously to a mutant that had this ability. The mutant carries out a balanced fermentation of glucose to give approximately 1 mol of succinate, 0. 5 mol of acetate, and 0.5 mol of ethanol per mol of glucose. The causative mutation was mapped to the ptsG gene, which encodes the membrane-bound, glucose-specific permease of the phosphotransferase system, protein EIICB(glc). Replacement of the chromosomal ptsG gene with an insertionally inactivated form also restored growth on glucose and resulted in the same distribution of fermentation products. The physiological characteristics of the spontaneous and null mutants were consistent with loss of function of the ptsG gene product; the mutants possessed greatly reduced glucose phosphotransferase activity and lacked normal glucose repression. Introduction of the null mutant into strains not blocked in the ability to ferment glucose also increased succinate production in those strains. This phenomenon was widespread, occurring in different lineages of E. coli, including E. coli B.
The hallmark of chronic myeloid leukemia (CML) is the BCR-ABL fusion gene, which is usually formed as a result of the t(9;22) translocation. Patients with CML show considerable heterogeneity both in their presenting clinical features and in the time taken for evolution to blast crisis. In this study, metaphase fluorescence in situ hybridization showed that a substantial minority of patients with CML had large deletions adjacent to the translocation breakpoint on the derivative 9 chromosome, on the additional partner chromosome in variant translocations, or on both. The deletions spanned up to several megabases, had variable breakpoints, and could be detected by microsatellite polymerase chain reaction in unfractionated bone marrow and purified peripheral blood granulocytes. The deletions were likely to occur early and possibly at the time of the Philadelphia (Ph) chromosome translocation: deletions were detected at diagnosis in 11 patients, were found in all Ph-positive metaphases, and were more prevalent in patients with variant Ph chromosomes. Kaplan-Meier analysis showed a median survival time of 36 months in patients with a deletion; patients without a detectable deletion survived > 90 months. The survival-time difference was significant on log-rank analysis (P =. 006). Multivariate analysis demonstrated that the prognostic importance of deletion status was independent of age, sex, percentage of peripheral blood blasts, and platelet count. Our data therefore suggest that an apparently simple, balanced translocation may result not only in the generation of a dominantly acting fusion oncogene but also in the loss of one or more genes that influence disease progression. (Blood. 2000;95:738-743)
Research has demonstrated that children who experience familial sexual maltreatment are at risk for developing psychological difficulties characterized by emotional and behavioral dysregulation. Surprisingly, however, little attention has been directed toward identifying processes in emotional development that differ in maltreated and nonmaltreated children. From a developmental psychopathology perspective, the present study examined emotion management skills (i.e., emotional understanding, emotion regulation) in 21 sexually maltreated girls and their nonmaltreated peers to determine how the experience of sexual maltreatment may interfere with normative emotional development. Findings indicated that sexually maltreated girls, in comparison to their nonmaltreated peers, demonstrate lower emotional understanding and decreased ability to regulate their emotions in accordance with cultural expectations. Further, maltreated girls expected less emotional support and more relational conflict from parents in response to sadness displays and from parents and peers in response to anger displays. These findings will be discussed from the functionalist approach to emotional development, emphasizing the importance of social context (e.g., maltreating, nonmaltreating) in the development of children's emotion management skills.
To identify potential Sec4 effectors, we isolated high copy suppressors of a Sec4 effector domain mutant. The most potent of these was found to be SEC9, a gene required for post-Golgi transport. The sole essential domain of Sec9 has significant sequence similarity to the neuronal protein SNAP-25, a component of the SNARE complex, that is implicated in vesicle targeting and fusion. Analogous to SNAP-25, Sec9 is bound to the yeast plasma membrane and is absent from post-Golgi vesicles. Furthermore, Sec9 is physically associated with two proteins that are homologous to components of the neuronal SNARE complex. Our results identify Sec9 as the yeast cognate of SNAP-25 and suggest that SNARE complexes acting at specific stages of vesicular transport serve as the ultimate targets of regulation by members of the Sec4/Ypt1/Rab family of GTPases.