ABSTRACT
Amphiphilic copolymers have a wide variety of medical and biotechnological applications, including DNA transfection in eukaryotic cells. Still, no polymer-primed transfection of prokaryotic cells has been described. The reversible addition-fragmentation chain transfer (RAFT) polymer synthesis technique and the reversible deactivation radical polymerization variants allow the design of polymers with well-controlled molar mass, morphology, and hydrophilicity/hydrophobicity ratios. RAFT was used to synthesize two amphiphilic copolymers containing different ratios of the amphiphilic poly[2-(dimethyl-amino) ethyl methacrylate] and the hydrophobic poly [methyl methacrylate]. These copolymers bound to pUC-19 DNA and successfully transfected non-competent Escherichia coli DH5α, with transformation efficiency in the range of 103 colony-forming units per µg of plasmid DNA. These results demonstrate prokaryote transformation using polymers with controlled amphiphilic/hydrophobic ratios.
Subject(s)
Polymers , DNA/genetics , Bacteria , Transfection , CationsABSTRACT
El trastorno del espectro autista (TEA) es un trastorno del desarrollo, común de la niñez, con una fuerte predisposición genética y alta heredabilidad. El riesgo de recurrencia en hermanos oscila entre 10-20% y en caso de familias con dos o más niños afectados el riesgo de recurrencia aumenta hasta un 35%. Dentro de las pruebas complementarias para el diagnóstico, el gold standard es la escala ADOS, existe además una prueba de pesquisa, el M-CHAT. Objetivo: evaluar riesgo de recurrencia de TEA en hermanos menores de niños con diagnóstico de TEA. Materiales y Métodos: se realizó un estudio de tipo transversal, observacional y descriptivo. Fueron estudiados niños entre 18-36 meses, hermanos de pacientes con diagnóstico de TEA. La evaluación del desarrollo se realizó utilizando: Escalas CAT/CLAMS, M-CHAT y ADOS 2. Resultados: se estudiaron 39 hermanos. 25 fueron varones y 14 fueron mujeres. Se identificaron 5 niños con diagnóstico de TEA, por lo que el riesgo de recurrencia en la población estudiada fue de 13%, con una relación varón/mujer de 4/1. Del resto de la población estudiada, 13% reunieron criterios para fenotipo ampliado del autismo (Broader Autism Phenotype BAP en su sigla en inglés), 31% presentaron retraso del lenguaje(RL) y 7%retraso global del desarrollo (RGD). Solo el 36% presentó desarrollo típico. Conclusión: Los hermanos de niños afectados representan un grupo de riesgo para problemas del desarrollo, que debe ser tenido en cuenta por los profesionales de la salud que siguen longitudinalmente a niños con diagnóstico confirmado de TEA (AU)
Autism spectrum disorder (ASD) is a developmental disorder that is common in childhood with a strong genetic predisposition and high heritability. The risk of recurrence in siblings is found to be between 10-20% and in families with two or more affected children recurrence risk is as high as 35%. Among the complementary diagnostic tests, the gold standard is the ADOS scale, and additionally the M-CHAT screening test. Objective: To evaluate the recurrence risk of ASD in younger siblings of children diagnosed with ASD. Material and Methods: A cross-sectional, observational, descriptive study was conducted. Children between 18- 36 months of age, siblings of children diagnosed with ASD were studied. Development was assessed using the CAT/CLAMS, MCHAT, and ADOS 2 scales. Results: 39 siblings were studied; 25 were male and 14 female. Five children with ASD were identified, accounting for a recurrence risk of 13% in the study population and a male/female ratio of 4/1. Of the remaining children, 13% met the criteria for the broader autism phenotype (BAP), 31% had language delay (LD), and 7% global developmental delay (GDD). Only 36% had normal development. Conclusion: Siblings of affected children are at risk for developmental disorders that should be taken into account by health professionals that ongitudinally follow children with a confirmed diagnosis of ASD (AU)