mRNA levels of enzymes and receptors implicated in arachidonic acid metabolism in gliomas.

BACKGROUND: Gliomas are tumors of the central nervous system derived from glial cells. They show cellular heterogeneity and lack specific diagnostic markers. Although a possible role for the eicosanoid cascade has been suggested in glioma tumorigenesis, the relationship between enzymes and receptors implicated in arachidonic acid metabolism, with histological tumor type has not yet been determined. DESIGN AND METHODS: Quantitative real-time reverse transcription-polymerase chain reaction was performed to measure and compare transcript levels of enzymes and receptors implicated in both lipoxygenase and cyclooxygenase pathways between oligodendrogliomas, astrocytomas, glioblastomas and mixed oligoastrocytomas. RESULTS: Arachidonic acid metabolism-related enzymes and receptor transcripts (i) were underexpressed in classical oligodendrogliomas compared to astrocytomas and/or glioblastomas, (ii) differed between astrocytomas and glioblastomas and (iii) had an intermediate expression in mixed oligoastrocytomas. CONCLUSIONS: mRNA levels of enzymes and receptors implicated both in lipoxygenase and cyclooxygenase pathways differed significantly in gliomas according to the histological type.

CADASIL: comunicación de una familiauruguaya con definición clínica, imagenológica, anatomopatológica y genética molecular / Clinical, imagenology, anatomopathological and molecular genetics results for the diagnosis of CADASIL in a Uruguayan family

Introducción: el síndrome CADASIL (Cerebral Dominant Arteriopathy with Subcortical Infarcts and Leukoencephlopathy) es una microangiopatía no amiloidea, no ateromatosa que se transmite en forma autosómica dominante y cuyas principales manifestaciones clínicasocurren a nivel cerebral. Su diagnóstico requiere criterios clínicos, imagenológicos y genéticos moleculares.Material y método: se estudiaron anatomopatológicamente mediante biopsia de piel y músculo y estudio genético molecular a tres integrantes de una familia con diagnóstico de CADASIL.Resultados: los exámenes clínicos, paraclínicos, neurológicos y ultraestructural de biopsia de piel mostraron resultados consistentes con CADASIL. La secuenciación de exones 2,3,4,5,8,11,20,23 del gene NOTCH3 detectó una mutación en forma heterocigota en el exón 5 no descripta en la literatura.Conclusiones: destacamos la importancia del diagnóstico precoz de esta enfermedad y la definición molecular que permite el asesoramiento genético a todos los integrantes de lafamilia y, eventualmente, el diagnóstico prenatal.

Introduction: CADASIL syndrome (Cerebral Dominant Arteriopathy with Subcortical Infarcts and Leukoencephlopathy),the most common form of hereditary stroke disorder is a nonamyloid, non-atheromatous microangiopathy. Main clinical features are found in the brain. The disease may be diagnosed by clinical findings, images and geneticmolecular criteria.Methods: an anatomopathological analysis through a skin and muscle biopsy and molecular study was performed on three members of the same family diagnosed with CADASIL.Results: clinical, paraclinical, neurological and ultrastructuralskin biopsy study's findings were consistent with CADASIL. NOTCH3 sequence exonal analysis(2,3,4,5,8,11,20,23) suggested heterocigotic mutations in exon 5, not previously described in literature.Conclusions: we stress the importance of early diagnosis of this disease and the molecular definition that enablesgenetic counselling to all members of the family and, potentially, prenatal diagnosis of the disease.

Introdução: a síndrome CADASIL (Cerebral Dominant Arteriopathy with Subcortical Infarcts and Leukoencephlopathy)é uma microangiopatia não amiloidea, não ateromatosa que se transmite de maneira autossômica dominantecujas principais manifestações clinicas são observadas no cérebro. Para seu diagnóstico é necessário realizarprovas clínicas, imagenológicas e de genética molecular.Material e método: foram realizados exames de anatomia patológica e de genética molecular em biopsias depele e músculo a três integrantes de uma família com diagnóstico de CADASIL.Resultados: os exames clínicos, paraclínicos, neurológicos e ultra-estrutural da biopsia de pele mostraram resultados consistentes com CADASIL. A seqüenciação dos exons 2,3,4,5,8,11,20,23 do gene NOTCH3 detectou uma mutação em forma heterozigótica no exon 5 não descritana literatura.Conclusões: destacamos a importância do diagnóstico precoce desta doença e a definição molecular que permite o assessoramento genético a todos os integrantes da família e, eventualmente, o diagnóstico pré-natal.

Prediction of early mortality after acute stroke.

The purpose of this trial was to identify clinical factors and evaluation studies with significant value as mortality predictors in patients suffering an acute stroke. One hundred forty-eight consecutive patients hospitalized at the Hospital de Clínicas, Montevideo, with a clinical diagnosis of stroke were studied: 85 had ischemic strokes and 63 presented with intracerebral hemorrhages. The potentially predictive variables (past medical history, clinical assessment, neuroimaging, biochemical analysis) were evaluated within the first 24 hours of admission; patient follow-up was performed until they left the hospital or died. The modified National Institutes of Health Stoke Scale (NIHSS) was used to assess neurologic impairment. Three variables were identified as early mortality predictors in this population: (1) Glasgow Coma Scale score < or = 11 on admission (R = 0.19); (2) severe mass effect, defined as the presence of ventricular shift across the midline and/or enlargement of contralateral ventricle in early computed tomography (CT) scan (R = 0.26); and (3) modified NIHSS quotient score > or = 0.26 on admission (R = 0.27). We conclude that modified NIHSS was the most consistent instrument for an early identification of patients at high mortality risk, even before confirmatory evidence of the stroke's nature was obtained. A cutoff of 0.26 on NIHSS quotient score on admission was identified as the most significant predictive value.