PubMed Health⌕ Search

Biomedical subjects

M Ausems

Publications and source records attributed to M Ausems.

4 recordsLinked to original sources
PubMed2000

Severe phenotypes associated with inactive ring X chromosomes.

Mental retardation and congenital malformations in individuals with small ring X chromosomes are often due to the functional disomy that results from failure of these chromosomes to undergo X inactivation. Such chromosomes either lack the XIST locus or do not express it. We have carried out genetic analysis of the ring X chromosomes from two girls with a 45,X/46,X,r(X) karyotype, mental retardation, and a constellation of abnormalities characteristic of the severe phenotype due to X disomy. In each case the ring X chromosome included an intact XIST locus which was expressed; the breakpoints were distal to DXS128, and therefore outside the XIC region; transcription analysis of alleles at the androgen receptor locus confirmed that these were inactive chromosomes. The characteristics of the XIST RNA were similar to the wild-type. Additional studies in cultured fibroblasts showed a second ring in a small percentage of the cells. The association of severe phenotype with an inactive X chromosome most likely reflects the presence of a second ring X chromosome which was active at least in some tissues during embryogenesis, but is no longer prominent in the tissues we analyzed.

Dosage Compensation, Genetic↗
PubMedDate not supplied

[Extracurricular activities of adolescents useful for smoking prevention programs. OCTOPUS team].

BACKGROUND: The cigarette smoking habit continues to be prevalent to a greater degree than would be desirable among teenagers. Innovative prevention programs are needed. This descriptive cross-sectional study sets out the behavior variables related to the cigarette smoking habit and the extracurricular activities in which teenagers are most frequently involved which are useful for setting out extracurricular prevention programs. METHODS: The data was collected by means of a questionnaire validated in a representative sample of school age youths (ages 10-11 and 13-14) from Asturias. The variables entailed in cigarette smoking were analyzed using the regression method. RESULTS: The starting smoker percentage is 14.5%-42.5%, regular smokers totaling 1.1% and 12.4%, respectively. Two models were constructed with the variables significantly related to smoking behavior, which are properly classified into smoker/non-smoker by 98.85% and 91.39% of the children, by ages. The environmental variables (availability of cigarettes and alcoholic beverages and regular visits to places entailing risk) are the major aspects comprising the model. The most common extracurricular activities are: watching TV, reading and listening to music and watching or playing sports. CONCLUSION: The findings provide keys to planning extracurricular activities tailored to fit in with the activities most popular among teens: TV commercials and ads on music media (CD's, tapes, etc.) and printed information mailed directly to teens at their homes, with messages conveyed by opinion-leaders among teens in the fields of sports, music and television.

Adolescent↗
PubMedDate not supplied

[Educational intervention in schools for the prevention of smoking: evaluation of the process. Project: OCTOPUS].

BACKGROUND: The published data on the effectiveness of programs in schools to prevent addiction to tobacco are not consistent. These programs have not been sufficiently studied, and their variables give rise to confusion. The aim of this study was to evaluate the process of educational action taken in schools. METHOD: Student leaders and teachers, who were trained and given guides, developed a socially based program. Two students selected at random from each class were interviewed, using a validated and directed questionnaire. A total of 318 children were interviewed. The Kappa Index was used to measure confidence, and the Inter-Class Coefficient of Correlation and Pearson's Coefficient were used together with analysis of individual differences to compare the data for program adjustment, as supplied by pupils and teachers. RESULTS: Mean adjustment per class was 30.07 points (48-100% adjustment). 26% of children were unable to mention any alternative to the advantages of smoking, 71.7% were unaware of the frequency of consumption amongst adults and 19.5% were unable to mention any of the tricks used in cigarette advertising. Less than half had performed psychodrama on this subject, as was required. The ICC was 0.21, Pearson's Coefficient was 0.25 (p = 0.02) and the interval of agreement between the descriptions of teachers and students was 6.93 points (-1.70 to 5.23). CONCLUSIONS: The degree to which implementation complied with the proposed model of program was insufficient. We found little agreement between the self-assessment of teachers and the score attained by pupils in compliance with the program. It is essential that this process be evaluated for its impact to be evaluated correctly.

Adolescent↗