Predictors of occult cancer in acute ischemic stroke patients.

BACKGROUND: We investigated the prevalence of occult malignancy (OM) in acute ischemic stroke patients to evaluate if any biological marker could help to detect the presence of OM. METHODS: We retrospectively reviewed all ischemic stroke patients during 48 months. We did not perform any screening for OM. Demographic data, vascular risk factors, routine blood chemistry with fibrinogen and C-reactive protein (CRP), National Institutes of Health Stroke Scale (NIHSS), and etiological subtype of stroke according to Trial of Org 10172 in Acute Stroke Treatment criteria were analyzed. The patients were divided into 2 groups (Non-OM versus OM). RESULTS: We analyzed 631 patients with acute ischemic stroke. The mean age was 69.7 ± 12.7 years, and 59% were men. The distribution of vascular risk factors, etiological subgroups, and NIHSS was comparable between both groups. We detected 13 cases (2.1%) with OM, and this percentage was higher in patients with stroke of undetermined etiology (5.3%). We detected significant higher levels of fibrinogen and CRP in patients with stroke of undetermined cause with OM. Receiver operating characteristic curves showed a sensitivity of 75% and specificity of 96% for levels of CRP more than 20 mg/L, and a sensitivity of 67% and specificity of 91% for fibrinogen levels greater than 600 mg/dL. CONCLUSIONS: OM was present in 2.1 % of overall patients, and 5.3% of patients with stroke of undetermined cause. Baseline levels of fibrinogen more than 600 mg/dL or CRP greater than 20 mg/L in patients with undetermined stroke might be good predictors of OM.

[Clinical characteristics of a family with early-onset Alzheimer's disease associated with a presenilin 1 mutation (M139T)]. / Características clínicas de una familia con enfermedad de Alzheimer de inicio temprano asociada a una mutación (M139T) en el gen de la presenilina 1.

BACKGROUND: The objective of this study was to describe the clinical features and the genetic analysis of a family with autosomal-dominant familial Alzheimer's disease. PATIENTS AND METHOD: In addition to the clinical findings of different family members, we performed a genetic analysis to detect mutations in the amyloid precursor protein genes, presenilin 1 and presenilin 2 genes, by means of single-strand conformation polymorphism and subsequent sequencing. The APOE genotype was also determined. RESULTS: The proband was a 52-year-old patient whose Alzheimer's disease started at age 49 years. Family history revealed that several members had developed an early onset dementia. The clinical picture in all them was characterized by cognitive and behavioral abnormalities that started at age 40 to 50 years. An important variability in the age of onset was observed among family members (range 39-51 years). The proband's genetic study identified a mutation in the presenilin 1 gene which predicted a methionine-to-treonine substitution at codon 139 (M139T). APOE genotype was *3/*3. CONCLUSIONS: The clinical picture of this family carrying the M139T mutation was similar to that of the sporadic variant of Alzheimer's disease. The observed variability in the age of onset suggests that, yet being genetically determined, other genetic or environmental factors modify the clinical expression of the disease.

Características clínicas de una familia con enfermedad de Alzheimer de inicio temprano asociada a una mutación (M139T) en el gen de la presenilina 1 / Clinical characteristics of a family with early-onset Alzheimer's disease associated with a presenilin 1 mutation (M139T)

FUNDAMENTO: Describir las características clínicas y el estudio genético de una familia con enfermedad de Alzheimer familiar con patrón autosómico dominante. PACIENTES Y MÉTODO: Se estudiaron las características clínicas y las exploraciones complementarias de los individuos de esta familia. Se realizó un estudio genético del caso índice en busca de mutaciones de los genes de la proteína precursora de amiloide, presenilina 1 y presenilina 2 mediante estudio de polimorfismos de cadena sencilla y posterior secuenciación. Se determinó el genotipo APOE. RESULTADOS: El caso índice era un paciente de 52 años con enfermedad de Alzheimer de inicio a los 49 años. Como antecedentes familiares destacaba la presencia de varios miembros de la familia con demencia. El cuadro clínico en todos ellos se caracterizaba por alteraciones cognitivas y conductuales de inicio entre los 40 y 50 años. Se observó una variabilidad importante en la edad de inicio entre los miembros de la familia (intervalo 39-51 años). El estudio genético del caso índice detectó una mutación en el gen de la presenilina 1, que predecía un cambio de metionina por treonina en el codón 139 (M139T). El genotipo APOE fue 3/3. CONCLUSIONES: El cuadro clínico de esta familia con la mutación M139T en el gen de la presenilina 1 es similar a la forma esporádica de enfermedad de Alzheimer. La variabilidad observada en la edad de inicio de la demencia indica que, a pesar de ser una enfermedad determinada genéticamente, otros factores genéticos o ambientales modifican la expresión clínica (AU)