ABSTRACT
RESUMEN Se propone repensar la noción 'estilos de vida saludables', a partir de la experiencia de una comunidad educativa de Colombia y desde la noción 'estilos de vida' planteada por las ciencias sociales, abordando las percepciones sobre alimentación, actividad física, salud y enfermedad. Se implementó una metodología cualitativa, participaron niñas y niños, adolescentes, cuidadores y educadores de Instituciones Educativas de 4 municipios de Cundinamarca, Colombia. A través de las narrativas expuestas se demuestra que los estilos de vida no se pueden limitar a un análisis de conductas de riesgo ya que tienen un componente estructural y están mediados por factores como el tiempo, la infraestructura, los espacios y prácticas individuales como colectivas. Se concluye que a pesar de que las personas conocen y dominan el discurso de los 'estilos de vida saludables' no se identifican con este, porque no dialoga con sus realidades, ni tiene en cuenta aspectos estructurales como edad, clase social, género, etnia, lo cual está relacionado con la posibilidad de ser o no saludable.
ABSTRACT It is proposed to rethink the notion 'healthy lifestyles' from the experience of an educational community in Colombia and from the notion 'lifestyles', raised by the social sciences, addressing the perceptions of food, physical activity, health and disease. A qualitative methodology was implemented, with the participation of girls, boys, adolescents, caregivers and educators from Educational Institutions from 4 municipalities of Cundinamarca in Colombia. Through the narratives provided it is clear that lifestyles cannot be limited to an analysis of risk behaviors, because they have a structural component and are mediated by factors such as time, infrastructure, spaces and individual and collective practices. The conclusion is that although people know and dominate the discourse of 'healthy lifestyles' they do not identify with it, because it does not establish any kind of dialogue with their realities, nor does it take into account structural aspects such as age, social class, gender, ethnicity, all of them related to the possibility of being healthy or not.
ABSTRACT
BACKGROUND: Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associated with mutations of the gene encoding extracellular matrix protein 1 (ECM1). CASE REPORT: This was a clinical and molecular study of a new case of LP with a severe phenotype. A 35-year-old female born to nonconsanguineous parents developed dermatological and extracutaneous symptoms in her 9th month of life. The neurological abnormalities of the disease began to appear at the age of 19 years. Computed tomography revealed cranial calcifications. CONCLUSIONS: The diagnosis of LP was confirmed by histopathological findings and direct sequencing of ECM1. A new homozygous nonsense mutation was identified in exon 7 of ECM1, c.1076G>A (p.Trp359*). This mutation was not detected in 106 chromosomes of healthy individuals with a similar demographic origin. Microsatellite markers around ECM1 were used to construct the haplotype in both the parents and the patient. Reports on genotype-phenotype correlations in LP point to a milder phenotype in carriers of missense mutations in the Ecm1a isoform, whereas mutations in the Ecm1b isoform are thought to be associated with more severe phenotypes. The present findings in a Spanish patient carrying a truncating mutation in exon 7 revealed complete dermatological and neurological manifestations.