Cytokine IL-1 beta but not IL-1 alpha promoter polymorphism is associated with Alzheimer disease in a population from the Canary Islands, Spain.

AIMS: Previous studies have reported the presence of low-grade inflammation in Alzheimer disease (AD). Based on these data, our work attempts to investigate the effects of some promoter polymorphisms of pro-inflammatory cytokines [interleukin (IL)-1 alpha and IL-1 beta] on AD. PATIENTS AND METHODS: A PCR-RFLP technique was used to analyze the promoter polymorphisms of both IL-1 alpha (-889 C/T) and IL-1 beta (-511 C/T) and the APOE genotype from the DNA samples of 282 patients (according to NINCDS-ADRDA criteria) and 312 control subjects. RESULTS: (i) The risk of developing AD in our population was associated with the IL-1 beta (-511 C/T) promoter polymorphism; (ii) such risk was independent of the risk factor allele in the APOE gene (APOE4); and (iii) the IL-1 alpha promoter polymorphism (-889 C/T) was not associated with the disease. CONCLUSION: In our population, IL-1 beta promoter polymorphism (-511 C/T) is an independent risk factor for AD.

[Autoimmune diseases and multiple sclerosis]. / Enfermedades autoinmunes y esclerosis múltiple.

INTRODUCTION: Multiple sclerosis (MS) is a demyelinating disease affecting the central nervous system with an unknown origin, although the immunological system plays a crucial role in its pathogenesis. It has been observed that the relatives of MS patients very often have other autoimmune diseases (ADs) and it has been suggested that there may be susceptibility genes that are common to this group of diseases. AIMS: Our aim was to estimate the prevalence of ADs in first and second degree relatives of patients with MS and to determine the coexistence of other ADs in MS patients. PATIENTS AND METHODS: We selected 251 patients with MS defined by the Poser criteria and face-to-face interviews with the patients and/or their relatives were conducted to investigate the following ADs: MS, rheumatoid arthritis, systemic lupus erythematosus, polyarteritis nodosa, autoimmune thyroid disease (ATD), inflammatory bowel disease, myasthenia gravis, type I diabetes mellitus (DMI) and psoriasis. RESULTS. 29.9% of the patients with MS had a first and/or second degree relative with an AD. Prevalence of ADs in first degree relatives was 15.5%, 30% in familial MS and 40% if the patient had both MS and another AD. The most frequent ADs were: MS 27%, psoriasis 18%, ATD 16% and DMI 15%. 15 patients had MS and another AD: six ATD, three DMI, four psoriasis, one inflammatory bowel disease and one myasthenia gravis. CONCLUSIONS: These findings lend support to the existence of susceptibility genes that are common to the different ADs and would act as risk factors.

[Familial multiple sclerosis in Canary Islands]. / Esclerosis múltiple familiar en Canarias.

INTRODUCTION: Multiple sclerosis (MS) is an autoimmune disease that occurs in genetically predisposed individuals. Its inheritance is polygenic. Genetic epidemiology studies have shown an increased familial aggregation. AIM. To determine the prevalence of familial MS (fMS) in a series of patients from the Canary Islands. PATIENTS AND METHODS: From a cohort of 266 patients with defined MS, during a 6-year period, we investigated prospectively by personal interviews the presence of MS on first and second degree relatives. We analysed as well the presence of HLA DRB1 in affected families, and also clinical and demographic characteristics in fMS and compared them with sporadic MS (sMS). RESULTS: fMS prevalence was 13.9% (27 non-related families with 50 affected individuals). The HLA DRB01*1501 allele were present in 51,8% of familial cases. We could not found either intrafamilial concordance in clinically affected regions and age of onset or clinical evolution. We have not found any phenotypic differences between familial and sMS. CONCLUSIONS: The prevalence of fMS in our series is comparable to that in other Mediterranean populations. Our results do not support that fMS was a different clinical entity of sMS and intrafamilial concordance in its clinical expression.

[Gender has a strong modulating effect on the risk of Alzheimer's disease conferred by the apolipoprotein E gene in the population of the Canary Islands, Spain]. / Fuerte modulacion de genero sobre el riesgo conferido por el gen de la apolipoproteina E para la enfermedad de Alzheimer en la poblacion de las Islas Canarias, España.

OBJECTIVES: Apolipoprotein E (ApoE) gen has been found to confer risk for Alzheimer disease in every population studied. We are interested in analyzed the exonic variants and the promoter polymorphisms in our Canary population. SUBJECTS AND METHODS: By means of PCR RFLP analysis of DNA from patients (NINCS ADRDA criteria) and controls (cognitive state CAMCOG test measured) we analyzed the known exonic and promoter polymorphism of ApoE gen. RESULTS: We have found an association of Alzheimer disease risk based on exonic variants of ApoE gen, with a clear cut dose effect on susceptibility and no risk conferred by the promoter polymorphisms. Age at onset are not affected by variants of ApoE gen, and patients gender strongly modulate the disease susceptibility. CONCLUSION: We have found in our Canary population an association between Alzheimer disease with exonic variants of ApoE gen with a strong modulation by the patients gender.

[External ventricular drainage in complete infarction of the medial cerebral artery]. / Drenaje ventricular externo en el infarto completo de la arteria cerebral media.

INTRODUCTION: Increased intracranial pressure (ICP) due to complete middle cerebral artery territory infarction does not respond to medical treatment and is often followed by transtentorial herniation and death. Some authors have reported good outcome after performing decompressive hemicraniectomy in this condition. The potential clinical benefit of intracranial pressure reduction by means of an external ventriculostomy in such cases is unknown. CASE REPORT: The present paper discusses the case of a 33 year old female who suffered a massive infarction of the territory of the right middle cerebral artery with transtentorial herniation and left lateral ventricular dilation who rapidly improved after performing external ventriculostomy without hemicraniectomy. The brain tissue partial oxygen pressure (PtiO2) was monitored in the left frontal lobe and a fair correlation with clinical events was found. CONCLUSIONS: External ventricular drainage without hemicraniectomy could be lifesaving in some case of massive ( malignant ) hemispheric infarction and more studies on this therapeutic approach would be needed. Monitoring PtiO2 in these patients would be useful in adopting therapeutic decisions.

[Guillain-Barré syndrome in the northern area of Gran Canaria and the island of Lanzarote]. / Sindrome de Guillain-Barré en el area norte de Gran Canaria e isla de Lanzarote.

AIMS: The objective of this study is to analyse the incidence and clinical characteristics of Guillain Barre syndrome (GBS) in the Canary Islands. PATIENTS AND METHODS: We conducted a retrospective study of GBS patients (according to diagnostic criteria from the National Institute of Neurological and Communicative Disorders and Stroke) treated in the Ntra. Sra. del Pino Hospital in Gran Canaria between 1983 and 1998. Annual incidence, seasonal distribution, preceding infection, clinical and electrophysiological data, and evolution were all evaluated. Prognostic factors were studied by means of a univariate analysis. RESULTS: A total of 81 patients were selected for the study. The raw incidence was 1.04/100,000 inhab./year (CI 95%: 0.83 1.29; adjusted for age to the European population: 1.5). The rates of incidence were higher in men and increased lineally with age in both sexes. We observed an upward tendency during the winter months. 48% of the patients displayed serious motor deficits in the nadir of the disease, and 17.8% required assisted ventilation. After one year s evolution 74% were seen to experience an excellent recovery. The mortality rate was 8.2% and 37% received immunomodulatory treatment. The main variables associated with a bad prognosis at 3 and 12 months were: serious deficits in muscular balance, the need for assisted ventilation and very reduced amplitude of evoked motor potential. CONCLUSIONS: GBS incidence in the Canary Islands is similar to that found in other countries. An increase with age and an upward tendency during the winter months was observed. No differences were found in the clinical data as compared with other series.

Síndrome de Guillain-Barré en el área norte de Gran Canariae isla de Lanzarote / Guillain-Barré syndrome in the northern area of Gran Canaria and the island of Lanzarote

Objetivo. Analizar la incidencia y características clínicas del síndrome de Guillain-Barré (SGB) en Canarias. Pacientes y métodos. Estudio retrospectivo de pacientes con SGB (criterios diagnósticos del National Institute of Neurological and Communicative Disorders and Stroke) atendidos en el H. Ntra. Sra. del Pino de Gran Canaria, entre 1983 y 1998. Se evaluaron la incidencia anual, distribución estacional, infección precedente, los datos clínicos y electrofisiológicos y la evolución. Se investigaron factores pronósticos mediante un análisis univariante. Resultados. Se seleccionaron 81 pacientes. La incidencia cruda fue 1,04/100.000 hab/año (IC 95 por ciento: 0,83-1,29) (ajustada por edad a la población europea: 1,5). Las tasas de incidencia fueron más altas en el hombre y aumentaban linealmente con la edad en ambos sexos. Observamos predilección por los meses de invierno. El 48 por ciento de los pacientes alcanzaron déficit motores graves en el nadir de la enfermedad, y un 17,8 por ciento precisó ventilación asistida. Al año de evolución, el 74 por ciento tuvo una excelente recuperación. La mortalidad fue del 8,2 por ciento. El 37 por ciento recibió tratamiento inmunomodulador. Las principales variables asociadas a mal pronóstico a los tres y 12 meses fueron: déficit graves en el balance muscular, necesidad de ventilación asistida y una amplitud muy reducida de potencial motor evocado. Conclusiones. La incidencia del SGB en Canarias es similar a la que se encontró en otros países. Observamos un aumento de la incidencia con la edad y predilección por los meses de invierno. No encontramos diferencias en los datos clínicos con otras series (AU)