Marcadores de estrés oxidativo en embarazadas diabéticas / Markers of oxidative stress in diabetic pregnants

Introducción: El manejo del estrés oxidativo en la embarazada diabética podría ser beneficioso en la prevención de complicaciones como las malformaciones congénitas. Sin embargo, no existe un consenso en cuanto a la pertinencia de aplicar terapias antioxidantes previamente o durante la gestación. La ambigüedad de algunos resultados en cuanto al daño real sobre las biomoléculas pudiera ser la causa de tal desacuerdo. El estudio tuvo como objetivos evaluar el estado de marcadores de daño oxidativo a biomoléculas y de defensa antioxidante en embarazadas diabéticas, así como analizar la influencia del tipo diabetes en el estado REDOX durante la gestación. Métodos: Se estudiaron 32 embarazadas diabéticas (15 con diabetes pregestacional y 17 gestacional) y 27 sanas, con un tiempo de gestación promedio superior a 20 semanas. Los marcadores se evaluaron por técnicas espectrofotométricas y cromatografía líquida de alta presión. Resultados: se pudo asegurar daño oxidativo al material genético y a proteínas, unido a una disminución también significativa de las defensas antioxidantes mediadas por el glutatión reducido en las embarazadas con diabetes pregestacional. Los niveles de nitratos y nitritos no mostraron diferencias entre los grupos. Conclusiones: los resultados permiten asegurar una vez más que las mujeres con diabetes pregestacional presentan un estado de estrés oxidativo que deteriora las defensas antioxidantes y no logra contrarrestar el daño oxidativo a biomoléculas

Introduction: The management of oxidative stress in diabetic pregnants could be beneficial to prevent complications like the congenital malformations. However, there is not a consensus as regards the relevance of applying antioxidant therapies before or during pregnancy. The ambiguity of some results as regard the real damage on biomolecules could be the cause of such disagreement. The aims of present study were to assess the state of the markers of oxidative damage to biomolecules and the antioxidant defence in diabetic pregnants, as well as to analyze the influence of the type of diabetes on the REDOX state during pregnancy. Methods: Thirty two diabetic pregnants (15 with pregestational diabetes and 17 with gestational diabetes) and 27 healthy pregnants with an average pregnant time higher than 20 weeks. Markers were assessed using spectrophotometry and high-performance liquid chromatography techniques. Results: There was oxidative damage to genetic material and proteins together with a decrease also significant in antioxidant defenses mediated by the reduced glutathione in pregestational diabetic pregnants. The nitrates and nitrites levels were not different among groups. Conclusions: Results allowed us to make sure that women with pregestional diabetes had a oxidative stress state deteriorating the antioxidant defenses and not counteract the oxidative damage to biomolecules

Diagnóstico y tamizaje del retardo mental hereditario más común, situación en Costa Rica / I commonest diagnose and tamizaje of the hereditary mental retardation, situation in Costa Rica

El síndrome del cromosoma X frágil (FRAXA) es la segunda causa genética de retardo mental y la forma más frecuente de retardo mental hereditario. FRAXA es causante de discapacidades que van desde grados variables de problemas de aprendizaje hasta retardo mental. Con frecuencia se asocian retrasos severos en el lenguaje, problemas de conducta, comportamiento semejante al autista, testículos agrandados, orejas grandes o prominentes, hiperactividad, retraso en el desarrollo motor y deficiente integración sensorial. Se hace un resumen del conocimiento actual de esta patología y del trabajo de los autores. Se tocan temas como el producto génico, los métodos de diagnóstico, el cuadro clínico, la epidemiología, la prevención, el tratamiento, el tamizaje y la situación en Costa Rica.

Fragile X syndrome (FRAXA) is the most common type of hereditary mental retardation, and the second commonest with genetic origin. The range of affection in FRAXA includes from learning problems to mental retardation. The syndrome includes speech and language deficits, abnormal behaviours, including autistic features, macro orchidism, prominent ears, hyperactivity, sensorial integration and motor impairments. Actual data and the authors own work is reviewed. Topics approached are the gene product, diagnostic methodology, clinical picture, epidemiology, prevention, screening and the actual situation in Costa Rica regarding this pathology.

Genetic and etiologic classification of familial convulsions

This work included 53 subjects [26 patients with convulsions from 13 families and 27 relatives]. They were subjected to full clinical, genetic and neuropsychiatric examination, pedigree construction, electroencephalography [EEG] and metabolic screening for inborn errors of amino acid metabolism. The results added further evidence to genetic heterogeneity of familial convulsions. Consanguinity was found in 66.7% of cases suggesting a major role played by autosomal recessive genes in the etiology of convulsions in Egypt. Abnormal EEG was found in 61.5% of all the studied cases, and in 46% of the parents suggesting inherited susceptibility. Mental retardation was found in 53.8% of the cases, all of them had abnormal EEG. This shows significant association between mental retardation and EEG abnormality

rapeutic efficiency of iodine 131 in thyroid adenoma-About 59 cases

Our study dealt with 81 patients treated by iodine 131 for autonomous goiter. We have followed 59 patients during a year approximately.The global therapeutic efficiency is of 73% and the risk of hypothyroidism is very weak. The administration of a high activity [> 15mCi] of iodine allows go get a faster recovery, a better therapeutic efficiency and permits to reduce the number of cures [therefore, to reduce the irradiation of the disease], nevertheless, the risk of hypothyroidism is very slight. The advantages of metabolic rediotherapy [low cost, facility of administration, efficiency] make it preferable to surgery, above all with patients that are more than 40 years old, for whom the radiation risk is practically of no account [hereditary diseases, cancer]

Evaluación del Asesoramiento genético / Evaluation of genetic counseling

En este trabajo se evaluó el asesoramiento genético (AG) en términos de conocimientos sobre la enfermedad y su etiología, los riesgos de recurrencia y las modificaciones en la actitud reproductiva. Participaron en el estudio 71 progenitores de 52 pacientes, a los cuales se les aplicó un cuestionario antes del Ag y 6 meses después del mismo. Después del AG, el 80% de los padres contestó correctamente las preguntas relacionadas con el diagnóstico y los riesgos para la pareja y el 60% conocía la etiología y los riesgos para sus hijos. No hubo modificaciones importantes en la actitud reproductiva, en parte porque la mayoría había decidido no tener hijos desde antes del AG, por razones socioeconómicas

White sponge nevus

White sponge nevus [WSN] is a rare, asymptomatic and hereditary condition. It is transmitted by autosomal dominant gene and has been observed in the oral, nasal, pharyngeal, vaginal and anal mucosa. Since Cannon [1935] some WSN have been reported [29 patients]. Review of the literature has revealed that the number reported previously is not as large as reported in this article, and, has not so many affected members. This is probably due to marriages between close relatives, high birth rate and extensive investigation on the line. This line consisting of 64 members, there are 4 close relatives marriages. Of these 64 members, 24 are affected [37.5%], 40 are not [62.5%]. All patients were healthy and had good oral hygiene. In the light of clinical and histologic findings, it has been determined that WSN is definitely a hereaditary disease inherited as autosomal dominant gene

Autosomal recessive duchenne-like muscular dystrophy in arabs, report of a Kuwaiti family and literature review

A Kuwaiti brother and sister [with 4 sibs and 4 half sibs], products of a consanguineous marriage of second-degree cousins, showed a clinical, biochemical, electro-myographic, and histopathological profile of pseudohypertrophic Duchenne muscular dystrophy with normal chromosome constitution. The findings support the concept of severe progressive limb-girdle muscular dystrophy with autosomal recessive inheritance. Preliminary studies of DNA samples by cDNA probes from the Duchenne/Becker locus have ruled out a possible deletion of the X-chromosome. This disease is rare in Britain and North America, but is more common in inbred Arab communities and in people originally from Switzerland

Enfermedades genéticas / Genetic diseases

Actualmente se describen 3 tipos de enfermedades genéticas: a) alteraciones monogénicas, b) anomalías cromosómicas y c) trastornos poligénicos. Es importante para el odontólogo conocer las características, en general, de cada grupo, y reconocer algunas que se presentan afectando la cara, cráneo y/o estructuras bucales. También se presentan algunos aspectos importantes en relación a la etiología, los cuales dependen del estado de desarrollo del feto y estado fisiológico y patológico de la madre, también de la dosis, tiempo y frecuencia de administración del agente causante de malformación (en algunos casos). Finalment, se señalan algunos aspectos acerca de la prevención de estas enfermedades