Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins

Aspectos dos processos de prescrição e dispensação de medicamentos na percepção do paciente: estudo de base populacional em Fortaleza, Ceará, Brasil Drug prescription and dispensing from the patient's perspective

O estudo visa avaliar aspectos da relação médico-paciente e dispensador-paciente, durante a conduta prescritiva e no ato da dispensação de medicamentos, a partir do ponto de vista dos pacientes. Trata-se de um estudo transversal de base populacional realizado em Fortaleza, Ceará, Brasil, no qual foram utilizadas informações de 957 pessoas, sendo que 904 responderam sobre a última consulta médica; e 831, sobre a última dispensação. As informações coletadas dizem respeito às práticas desses profissionais e do comportamento do paciente, no que diz respeito às perguntas e informações formuladas para melhor direcionar a escolha e o consumo dos medicamentos. Na escolha da terapêutica, o médico falha ao não perguntar sobre alergias medicamentosas anteriores (65%) e uso de outros medicamentos (64,1%), e menospreza, na maioria das vezes, os cuidados com as possíveis reações adversas (73,3%) e interações medicamentosas (58,2%). Na dispensação do medicamento, a situação é ainda mais grave, pois ela é realizada, principalmente, pelos balconistas (57,1%). O estudo sugere a baixa qualidade no atendimento médico e farmacêutico e a apatia do paciente no processo que envolve a prescrição e dispensação de medicamentos e seu uso racional.<br>The objective of this study was to analyze aspects of the physician-patient and pharmacist-patient relationship, based on patients' opinions. It consists of community-based research performed in Fortaleza, Ceará State, Brazil, where 957 persons were interviewed; 904 answered questions about the last visit to the physician and 831 about the last visit to the pharmacy. The data reflect several aspects of medical and pharmaceutical practice and patients' attitudes towards the questions posed and information provided to guide rational use of drugs. In the therapeutic choice, physicians failed to ask their patients about hypersensitivity to drugs (65%) and use of other medication (64.1%) and ignored recommendations concerning adverse drug reactions (73.3%) and drug interactions (58.2%). The situation was even worse in hospitals, where in most cases a pharmacist's assistant was responsible for dispensing to patients (57.1%). The study suggests poor quality in the medical and pharmaceutical roles and patient apathy towards proceedings involving the prescription and receipt of drugs in pharmacies, as well as in rational use