Classical homocystinuria is due to cystathionine b-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene. Mutation p.I278T is very prevalent, has been found in all European countries where it has been looked for with the exception of the Iberian peninsula, and is known to respond to vitamin B 6 . On the other hand, mutation p.T191M is prevalent in Spain and Portugal and does not respond to B 6 . We analysed 30 pedigrees from Spain, Portugal, Colombia and Argentina, segregating for homocystinuria. The p.T191M mutation was detected in patients from all four countries and was particularly prevalent in Colombia. The number of p.T191M alleles described in this study, together with those previously published, is 71. The prevalence of p.T191M among CBS mutant alleles in the different countries was: 0.75 in Colombia, 0.52 in Spain, 0.33 in Portugal, 0.25 in Venezuela, 0.20 in Argentina and 0.14 in Brazil. Haplotype analyses suggested a double origin for this mutation. No genotype-phenotype correlation other than the B 6 -nonresponsiveness could be established for the p.T191M mutation. Additionally, three new mutations, p.M173V, p.I429del and c.69_70+8del10, were found. The

Actualmente, es evidente el impacto de la atención primaria a las personas con diabetes y la convicción de que la educación diabetológica es indispensable en su abordaje terapéutico, ya que así se puede contribuir a un plan individualizado por paciente, que permita su consecuente tratamiento y la preservación de su salud. Por esto, el profesional de enfermería y la familia deben ejercer un rol protagónico, realizando actividades preventivas, educadoras, rehabilitadoras y de atención, a través de la construcción de estrategias individuales y comunitarias. En la siguiente guía se encontrará una serie de intervenciones en atención primaria, como lo son: El papel de la enfermera y la visión de esta en la diabetes, valoración y seguimiento, aplicación del modelo de Callista Roy, proceso de atención de enfermería, recomendaciones nutricionales e indicadores sobre el paciente y la familia, con el fin de disminuir factores de riesgo y prevenir enfermedades de este tipo.Palabras clave: Diabetes Mellitus; atención primaria; prevención; autocuidado AbstrActCurrently, it is clear the impact of primary care for people with diabetes and the belief that education about this disease is indispensable in the therapeutic approach, as this can contribute to an individualized patient plan that allows their subsequent treatment and the preservation of their health. Therefore, the nursing professional and the family should play a leading role, in performing preventive and educational activities, and rehabilitative care through building individual and community strategies. In the following guide you will find a series of interventions in primary Recibido en octubre 26 de 2015 Aceptado en marzo 30 de 2016

In this article, one of the novel mutations, c.208_209+ 8del10, was incorrectly given as c.69_70+8del10. It corresponds to patient 64 in Table 4. Additionally, the genotype for patient 34 (Table 4) is p.T191M/p.T191M, and not p.[T191M;D444N]/ [T191M;D444N]. Accordingly, in the Discussion, the two sentences: ''It should be noted that two patients in our series bore p.D444N: patient #54 (described above) and patient #34. The latter was homozygous for the

Homocystinuria is an autosomal recessive disease most commonly caused by mutations in cystathionine beta-synthase (CBS). In this study we present the mutation analysis of 36 Colombian individuals from 10 unrelated kindred, with 11 individuals clinically classified as homocystinuric. Mutation analysis of the CBS gene revealed p.T191M, a prevalent mutation in Spain and Portugal, in the homozygous state in seven of the unrelated patients. Genotype-phenotype assessment of the p.T191M homozygous patients showed a high level of variability, including different severity in one pair of affected siblings. None of the patients responded biochemically to treatment with pharmacological doses of pyridoxine and folic acid as revealed by essentially unchanged homocysteine levels. This study offered a unique opportunity to study 18 heterozygous (p.T191M/wt) relatives of the homocystinuric patients. One atypical finding was that many of them presented with above average total homocysteine levels, putting them at an increased risk for vascular disease. Cryptorchidism was present in three of the cases, one of which presented also with Klinefelter syndrome. In addition to the previously described p.T191M mutation, a new mutation, p.A288T, was identified in a single individual. In this paper we present the first characterization, at a molecular level, of patients with homocystinuria from Colombia.