WHAT IS THE ORGANIZED CRIME? DELIMITATION OF THE CRIMINAL ASSOCIATIVE PHENOMENON, THROUGH THE ANALYSIS OF CINEMATOGRAPHICS STUDY CASES

This article delimits the borders de of the associative crime, by using as the main study case the Tarantino’s film “Pulp Fiction” (1994). By means of the analysis and cinematographic interpretation, the main characteristics that shape the “organized crime” are described and illustrated: the existence of a solid organization, the criminal profitable ends and the employment of violence as a criminal method

Knobloch syndrome in a patient from Chile

Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It is caused by mutations in theCOL18A1gene, which codifies for collagen XVIII, present in retina and vascular endothelium. Since the first description of the disease by doctors Knobloch and Layer in 1972, over 100 cases and 20 pathogenic or likely pathogenic mutations have been reported. We present the case of a child born from a consanguineous couple in Chile with congenital high myopia and dysmorphisms without an occipital skull defect. Whole exome sequencing analysis revealed an inherited homozygous variant inCOL18A1, c.4224_4225delinsC, p.Pro1411Leufs*35