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1.
Epilepsy Behav ; 83: 22-27, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29635116

RESUMEN

OBJECTIVE: The aim of this study was to explore the level of knowledge regarding epilepsy and attitudes prevalent toward people with epilepsy (PWE) among Libyan university students in comparison with international data. METHODS: A self-administrated questionnaire on awareness regarding epilepsy and behaviors toward PWE was distributed among undergraduate students enrolled in the University of Benghazi. The collected data were analyzed against responses from an Italian survey that utilized a similar questionnaire to explore epilepsy-related knowledge and attitudes among Italian university students in Rome (Mecarelli et al., 2007). RESULTS: Out of the 500 interviewed students, 96% successfully completed the survey. Further, 96.6% asserted that they possessed some knowledge regarding epilepsy, gained mainly from their families (76.6%). A total of 57.5% considered epilepsy to be a psychiatric disorder while 11.6% recommended psychological tests for the diagnosis of epilepsy. Moreover, 37.5% believed in ancient superstitions, such as possession by evil forces, as the underlying cause of the condition, and 31.8% recommended traditional remedies to cure it. Further, 66.6% deemed epilepsy as a barrier for career prospects, 41% indicated that it presents an impediment in participation in sports, and 35% considered it as an obstacle in marriage. Additionally, epilepsy was perceived as a severe illness by 53.3% of the respondents and considered to be a moderately severe condition by 43.7%. The responses were found to be statistically significant (P<0.05) against the responses from the Italian study. CONCLUSION: There is a reasonable level of awareness regarding epilepsy among Libyan students, though a lack of accuracy in the acquired knowledge exists. The ancient misconceptions regarding the nature of epilepsy and negative attitudes toward PWE appear to be rather common among the Libyan students. Consequently, the discrepancies in the views between the two surveys concerning the ways in which epilepsy is perceived and PWE are treated were extremely evident, thus reflecting the already established view that epilepsy faces greater stigma as a health condition in developing countries in comparison with Western nations.


Asunto(s)
Concienciación , Epilepsia/epidemiología , Epilepsia/psicología , Conocimientos, Actitudes y Práctica en Salud , Estudiantes/psicología , Universidades , Estudios Transversales , Países en Desarrollo , Femenino , Humanos , Libia/epidemiología , Masculino , Pruebas Psicológicas , Estigma Social , Supersticiones , Encuestas y Cuestionarios , Universidades/tendencias
2.
Am J Hum Genet ; 92(3): 392-400, 2013 Mar 07.
Artículo en Inglés | MEDLINE | ID: mdl-23453666

RESUMEN

The corpus callosum is the principal cerebral commissure connecting the right and left hemispheres. The development of the corpus callosum is under tight genetic control, as demonstrated by abnormalities in its development in more than 1,000 genetic syndromes. We recruited more than 25 families in which members affected with corpus callosum hypoplasia (CCH) lacked syndromic features and had consanguineous parents, suggesting recessive causes. Exome sequence analysis identified C12orf57 mutations at the initiator methionine codon in four different families. C12orf57 is ubiquitously expressed and encodes a poorly annotated 126 amino acid protein of unknown function. This protein is without significant paralogs but has been tightly conserved across evolution. Our data suggest that this conserved gene is required for development of the human corpus callosum.


Asunto(s)
Agenesia del Cuerpo Calloso/genética , Cuerpo Calloso/metabolismo , Exoma , Mutación , Secuencia de Aminoácidos , Corteza Cerebral/metabolismo , Codón/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Metionina/genética , Datos de Secuencia Molecular , Análisis de Secuencia de ADN/métodos
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