RESUMO
BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts is a rare type of leukodystrophy associated with mutations in the MLC1 and GlialCAM genes. The classic form is characterized by macrocephaly, early or delayed normal neurodevelopment followed by a period of slow motor skill loss, with cerebellar ataxia and spasticity; some patients develop movement disorders and seizures. Magnetic resonance imaging shows widespread diffuse white matter involvement with edema and subcortical cysts. CASE REPORT: We describe the case of two sisters aged 6 and 10 years, consanguineous parents, with a history of psychomotor delay and macrocephaly. The older sister presented with seizures at the age of 4 years and spasticity without loss of gait; the younger sister had a similar clinical picture. Magnetic resonance imaging showed diffuse alteration of the white matter and subcortical cysts in the temporal lobes. Electroencephalogram detected focal epileptiform activity. Seizure control was achieved upon initiation of carbamazepine treatment. By sequencing, a homozygous variant of the MLC1 gene was found in exon 3: c.255T>G (p.Cys85Trp). CONCLUSIONS: Leukodystrophies are rare diseases that represent a diagnostic challenge. Clinical, radiological, and molecular findings allow diagnostic certainty, the appropriate direction of interventions, and adjustment to the prognosis of each entity. The c.255T>G mutation was previously described in a South American patients, suggesting that it is a specific variant to Latin populations.
INTRODUCCIÓN: La leucoencefalopatía megalencefálica con quistes subcorticales es una leucodistrofia poco frecuente, asociada con mutaciones en los genes MLC1 y GlialCAM. La forma clásica se caracteriza por macrocefalia, neurodesarrollo temprano normal o con retraso seguido por un periodo de pérdida lenta de habilidades motoras, con ataxia cerebelosa y espasticidad; algunos pacientes desarrollan trastornos del movimiento y crisis convulsivas. La resonancia magnética muestra afección difusa generalizada de la sustancia blanca con edema y quistes subcorticales. CASO CLÍNICO: Se presenta el caso de dos hermanas de 6 y 10 años con historia de retraso psicomotor y macrocefalia, hijas de padres consanguíneos. La mayor inició con crisis convulsivas a los 4 años y espasticidad sin pérdida de la marcha autónoma; la menor presentó un cuadro clínico similar. La resonancia magnética mostró una alteración difusa de la sustancia blanca y quistes subcorticales en los lóbulos temporales. El electroencefalograma detectó actividad epileptiforme focal. Se logró el control de las crisis convulsivas al iniciar el tratamiento con carbamazepina. Por secuenciación, se encontró una variante homocigota del gen MLC1 en el exón 3: c.255T>G (p.Cys85Trp). CONCLUSIONES: Las leucodistrofias son enfermedades raras que representan un desafío para su diagnóstico. Los hallazgos clínicos, radiológicos y moleculares permiten la certeza del diagnóstico, la dirección adecuada de las intervenciones y el ajuste al pronóstico de cada una. La mutación c.255T>G fue descrita previamente en pacientes sudamericanos, lo que sugiere que podría tratarse de una variante específica de poblaciones latinas.
Assuntos
Cistos , Megalencefalia , Cistos/complicações , Cistos/diagnóstico , Cistos/genética , Diagnóstico Precoce , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central , Humanos , Megalencefalia/complicações , Proteínas de Membrana/genética , Convulsões/complicaçõesRESUMO
Introducción: la depresión es una enfermedad de alta prevalencia en adultos mayores. En Colombia su prevalencia se ha descrito entre 1,2 a 12% en mayores que viven en comunidad. Objetivo: estimar la prevalencia de depresión en un muestra de adultos mayores de Bogotá y describir los factores de riesgo psicosocial asociados. Material y métodos: se realizó un estudio de corte transversal observacional-descriptivo, en 889 adultos mayores autónomos. La depresión fue evaluada con el test de depresión geriátrica Yesavage y los factores de riesgo con la sección de acontecimientos vitales del cuestionario Predict. Resultados: el 74% de la muestra estuvo constituida por mujeres, la media de edad fue de 72,51 (DS 9,4) años y la escolaridad promedio en años fue de 7,50 (DS 5,64). Así mismo, se estimó una prevalencia de depresión del 18,6%, siendo mayor en mujeres (20%) y (18%) en sujetos entre 70 y 79 años, los adultos con baja escolaridad sumaron un 43%, y el 22% lo constituyeron personas dependientes económicamente. Por otra parte, se encontró relación entre la depresión y cinco de los factores de riesgo psicosocial conocidos como acontecimientos vitales adversos: insomnio, vivir solo, padecer enfermedades crónicas, haber sufrido una crisis económica, y la muerte de un familiar o amigo cercano en el último año. Conclusión: la prevalencia de depresión en un grupo de personas mayores de la comunidad en Bogotá es más alta que lo descrito previamente en Colombia y por la Organización Mundial de la Salud (OMS). Programas que reduzcan la soledad en la vejez y protejan a la mujer y a los mayores con menos escolaridad podrían mitigar esta condición.
Introduction: depression is one of the most prevalent diseases in the elderly. In Colombia, the prevalence of depression in this population ranges from 1,2 to 12%. Objective: to estimate the prevalence of depression in a group of independent elderly subjects in Bogota and describe the psychosocial risk factors associated with it. Material and methods: a cross-observational and descriptive study was done. The sample was constituted of 889 autonomous elderly subjects of Bogota city. Depression was assessed by applying the Test of Geriatric Depression-Yesavage-. Besides, the psychosocial risk factors were measured through the life events section, which is part of the Predict Questionnaire. Results: 74% of the sample was made up of women, the mean age was 72,51 years old (DS.9,4) and the average of education was of 7.50 years (DS.5,64). Besides, it was found a prevalence of depression of 18,6%. This prevalence was higher in the women (20%) and elderly between 70 and 79 years old (18%), adults with low education with 43% or 22% in economically dependent people. A relationship between depression and five psychosocial risk factors, known as adverse life events-insomnia, living alone, suffering a chronic disease or economic crisis or the death of the couple, a close friend or a relative. Conclusion: results showed a higher prevalence of depression in this sample in comparison to the findings yielded in previous studies developed in Colombia and the WHO. Programs that help to reduce the long lines protect women and older with less schooling ageing could mitigate the condition.
Assuntos
Sono , Idoso , Fatores de Risco , DepressãoRESUMO
The necessary replacement of fish meal with other protein source in diets of commercially important fish has prompted the study of the effect of the inclusion of different vegetable proteins sources on growth performance and on the gastro-intestinal tract. Currently, soybean meal is the primary protein source as a fish meal replacement because of its low price and high availability. Likewise, it is been documented that the ingestion of soybean meal by several fish species, such as salmonids and carp, triggers a type of intestinal inflammation called enteritis. In this paper, we analyzed the effects of the ingestion of soybean meal and two of its components, soy protein and soy saponin, on zebrafish to establish the basis for using zebrafish larvae as a model for fish nutrition. We took advantage of the existence of different transgenic lines, which allowed us to perform in vivo analysis. Our results indicated that larvae that were feed with soybean meal developed a clear intestinal inflammation as early as two day after beginning the diet. Moreover, we determined that is not the soy protein present in the diet but the soy saponin that is primarily responsible for triggering the immune response. These findings support the use of zebrafish screening assays to identify novel ingredients that would to improved current fish diets or would formulate new ones.