ApoE ɛ4 genotype and the age at onset of temporal lobe epilepsy: A case-control study and meta-analysis.

In order to investigate the role of ApoE e{open}4 as a modifier of the age at onset of temporal lobe epilepsy (TLE), we performed a molecular epidemiology study in 78 patients with mesial temporal lobe epilepsy and hippocampal sclerosis. Genotyping was done by a PCR-RFLP assay. In order to better estimate the role of this variant as a modifier of the age at onset, we also performed a systematic review of the literature. We included our results into a meta-analysis along with data available from seven published studies with 728 patients that looked into the role of ApoE e{open}4 in TLE. We found that ApoE e{open}4 carriers in our population had a non-significant earlier age of epilepsy onset than non-carriers. The meta-analysis confirmed this finding, showing that ApoE e{open}4 carriers had epilepsy onset almost 4 years earlier than non-carriers (mean difference 5.15 years; CI 95% 2.08-6.22; p=0.001). In conclusion, the ApoE e{open}4 isoform is a genetic factor that might influence the age at onset of TLE.Fil: Kauffman, Marcelo Andres. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Consalvo, Damian. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: González Morón, Dolores. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Lereis, Virginia Pujol. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Kochen, Sara Silvia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentin

Left atrial appendage occlusion with Amplatzer Cardio Plug is an acceptable therapeutic option for prevention of stroke recurrence in patients with non-valvular atrial fibrillation and contraindication or failure of oral anticoagulation with acenocumarol

ABSTRACT Left atrial appendage occlusion (LAAO) appears as a therapeutic option for some atrial fibrillation patients not suitable for oral anticoagulation because an increased hemorrhagic risk or recurrent ischemic events despite anticoagulant treatment. Methods Report of consecutive atrial fibrillation patients treated with LAAO with Amplatzer Cardio Plug because contraindication or failure of oral anticoagulation with acenocumarol. CHA2DS2VASC, HAS-BLED, NIHSS, mRS, procedural complications and outcome were assessed. Seven patients (73 ± 6 year-old) were treated after intracerebral (n = 5) and gastrointestinal (n = 1) hemorrhages or ischemic stroke recurrence while on acenocumarol (n = 1). Results Mean follow up was 18 months. Baseline CHA2DS2Vasc y HAS-BLED scores were 5.6 ± 0.7 and 4.1 ± 0.3 respectively. There were no strokes or deaths. There was only one non-serious adverse event. Conclusion LAAO with ACP appears as a feasible therapeutic option for stroke prevention in patients with atrial fibrillation and failure or contraindication to acenocumarol

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Argentina

CADASIL is the most common cause of hereditary stroke and vascular dementia. Published information about this disease in South America is scant. We describe clinical and demographic characteristics of 13 patients (10 families) with CADASIL from Argentina.Methods Medical records, diagnostic tests and family history of patients with CADASIL were reviewed.Results Thirteen patients with CADASIL (10 families) were included. All patients had European ancestry. Initial presentation was stroke in most patients (n = 11). Stroke patients later developed cognitive complaints (n = 9), migraine with aura (n = 1), apathy (n = 4) and depression (n = 6). External capsule and temporal lobe involvement on MRI were characteristic imaging findings. Two patients died after intracerebral hemorrhage.Conclusion This is the first report of non-related patients with CADASIL in South America addressing ancestry. Since European ancestry is not highly prevalent in all South American countries, there may be variable incidence of CADASIL within this region