Sistema Nacional de Educação articulado ao Plano Nacional de Educação

This text which discusses the central theme of the National Conference on Education (CONAE), held in Brasília from 28th March to 1st April 2010, deals with the concept of a National System of Education in articulation with the National Plan of Education. To that end, after pointing to the basic uses of the concept of system, it discusses the question of the National System of Education exploring the federative question in order to reveal the complete compatibility of the organization of the National System of Education with the federative regime. Thereafter, it deals with the historical meaning of the National Plan of Education demonstrating that the plan is a demand of the system, since planned action is implicit in systematized education. Thus the National Plan of Education is fulfilling those goals and objectives for which it is responsible.

Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia

Type II 3β-hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase (3β-HSD2), encoded by the HSD3B2 gene, is a key enzyme involved in the biosynthesis of all the classes of steroid hormones. Deleterious mutations in the HSD3B2 gene cause the classical deficiency of 3β-HSD2, which is a rare autosomal recessive disease that leads to congenital adrenal hyperplasia (CAH). CAH is the most frequent cause of ambiguous genitalia and adrenal insufficiency in newborn infants with variable degrees of salt losing. Here we report the molecular and structural analysis of the HSD3B2 gene in a 46,XY child, who was born from consanguineous parents, and presented with ambiguous genitalia and salt losing. The patient carries a homozygous nucleotide c.665C>A change in exon 4 that putatively substitutes the proline at codon 222 for glutamine. Molecular homology modeling of normal and mutant 3β-HSD2 enzymes emphasizes codon 222 as an important residue for the folding pattern of the enzyme and validates a suitable model for analysis of new mutations.