Daño oxidativo y capacidad de defensa antioxidante en pacientes cubanos con mucopolisacaridosis / Oxidative damage and anti-oxidant defense capacity in Cuban patients with mucopolysaccharidosis

Introducción: Las mucopolisacaridosis son causadas por la deficiencia de las actividades de las enzimas lisosomales necesarias para degradar los glicosaminoglicanos. Estos síndromes comparten muchas características clínicas aunque en grados variables. Las manifestaciones clínicas implican múltiples sistemas de órganos y algunas tienen terapia de reemplazo enzimático. En muchas investigaciones se hace alusión a la presencia de estrés oxidativo en quienes la padecen, pero esta condición aún no se ha estudiado en los pacientes cubanos. Objetivo: Evaluar parámetros de estrés oxidativo en pacientes cubanos con mucopolisacaridosis. Métodos: Se realizó un estudio de casos y controles que incluyó a 7 niños con mucopolisacaridosis de tipos I, II, III y IV (casos) y a 21 aparentemente sanos, pareados en edad y sexo (controles). Se midieron los niveles plasmáticos de malonildialdehído, productos avanzados de oxidación de proteínas, grupos tiol libres y marcadores de química sanguínea. Se cuantificaron las actividades intraeritrocíticas de superóxido dismutasa, catalasa y de glutatión peroxidasa. Todas las técnicas utilizadas fueron espectrofotométricas. Resultados: Los pacientes mostraron un aumento tanto en los niveles de calcio como en la oxidación de lípidos y proteínas, en comparación con los controles y los valores de referencia de Cuba. Hubo una disminución en la actividad de la enzima superóxido dismutasa y las concentraciones de grupos tioles. No se encontraron diferencias para el resto de los parámetros medidos. Conclusiones: El aumento del daño oxidativo y la disminución de la capacidad antioxidante sugieren la presencia de estrés oxidativo en esos pacientes cubanos.

Introduction: Mucopolysaccharidosis are caused by the deficiency in lysosomal enzyme activities necessary to degrade the glycosaminoglycans. These syndromes share many clinical characteristics although in variable degrees. Clinical manifestations imply multiple organs systems and some have enzyme replacement treatment. Many investigations deal on the presence of oxidative stress in those who suffer it, but this condition has not still been studied in Cuban patients. Objective: To evaluate parameters of oxidative stress in Cuban patients with mucopolysaccharidosis. Methods: A cases and controls study which included 7 children with mucopolysaccharidosis types I, II, III and IV (cases) and 21 apparently healthy children, paired by age and sex (control group) was carried out. The plasmatic levels of malondialdehide, advanced products of proteins oxidation, free thiol groups and blood chemistry markers were measured. The intraerythrocytic activities of superoxide dismutase, catalase and that of glutathione peroxidase were quantified. All the used techniques were spectrophotometrical. Results: The patients showed an increase, both in the calcium levels as in the oxidation of proteins and lipids, in comparison with the control group and the Cuban values reference. There was a decrease in the activity of the enzyme superoxide dismutase and the concentrations of thiols groups. There were no differences for the rest of the measured parameters. Conclusions: The increase of the oxidative damage and the decrease of the anti-oxidant capacity suggest the presence of oxidative stress in those Cuban patients.

A Conservative Approach Towards Prosthetic Rehabilitation of The Young Female Patient With Amelogenesis Imperfecta- A Case Report.

Amelogenesis imperfecta (AI) is a hereditary disorder expressing a group of conditions that cause developmental alterations in the structure of enamel. This clinical case report describes the oral rehabilitation of a young adult female patient diagnosed with hypoplastic amelogenesis imperfecta with mutilated dentition. The main objective for the selected treatment was to enhance the esthetics, restoring masticatory function and eliminate the teeth sensitivity. Toothsupported overdenture is used as treatment due to patient’s financial constraints. Patient was satisfied with the esthetic and functional expectations.

Autosomal Dominant Cerebellar Ataxia Type II Associated with Optic Atrophy

Autosomal dominant cerebellar ataxia(ADCA) is an unusual, familial hereditary disorder that ha been called olivopontocerebellar atrophy. ADCA type II is usually accompanied with severely decreased visual acuity and cerebellar ataxia. We experienced a 39 year-old female with ADCA type II who had the severely decreased visual acuity and progressive familial cerebellar ataxia. The diagnosis for ADCA type II was made through several ophthalmic examinations. brain magnetic resonance imaging, and chromosomal study. When ophthalmologists encounter a patient with decreased visual acuity and cerebellar ataxia, this disorder should not be overlooked. We report this unusual case with literature review.