ABSTRACT
The cellular prion protein, encoded by Prnp gene, is involved in neuroprotection, neuroplasticity and neurodevelopment. The variant allele Valine at codon 129 of the Prnp was associated with decreased brain volume in healthy volunteers and schizophrenic patients. We investigate the association between the cerebellum volume and the presence of variant allele Valine at codon 129 of the Prnp gene in patients with mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS). The Prnp coding sequence was determined in 41 refractory MTLE-HS patients. The cerebellum volume corrected by the intracranial volume of patients with the normal Prnp genotypes was compared with that of patients presenting the variant alleles at codon 129. Twenty patients showed the Met129Met genotype, 16 showed Met129Val, and 5 had Val129Val. There were no association among clinical, demographic, electrophysiological, antiepileptic drugs used, and the presence of the Prnp variant alleles. The presence of Prnp variant allele at codon 129 was not associated with the analyzed cerebellum volume. Prnp variant alleles at codon 129 are not associated with cerebellum volume in patients with refractory MTLE-HS.
Subject(s)
Cerebellum/pathology , Epilepsy, Temporal Lobe/genetics , Epilepsy, Temporal Lobe/pathology , Prions/genetics , Adult , Alleles , Anticonvulsants/therapeutic use , Brain/pathology , Electroencephalography , Epilepsy, Temporal Lobe/drug therapy , Epilepsy, Temporal Lobe/physiopathology , Female , Genetic Variation , Humans , Magnetic Resonance Imaging , Male , Organ Size , Prion Proteins , Seizures/drug therapy , Seizures/genetics , Seizures/pathology , Seizures/physiopathologyABSTRACT
Modelo do estudo: Estudo de caso. Objetivo do estudo: Verificar a contribuição da adaptação do aparelho de amplificação sonora (AAS) em duas pacientes adultas com diagnóstico de Espectro de Neuropatia Auditiva (ENA), em relação às habilidades auditivas e de comunicação. Importância do problema: Indivíduos diagnosticados com ENA apresentam sintomatologia clínica variada com queixa predominante de dificuldade de discriminação de fala, principalmente em ambientes ruidosos e, a literatura, aponta várias possibilidades de tratamento em decorrência dessas diversidades. Metodologia: Foram descritos todos os exames audiológicos, eletroacústicos, eletrofisiológicos e de imagem realizados, bem como avaliação otorrinolaringológica clínica. Participaram deste estudo duas pacientes que passaram por seleção e adaptação de AAS e foram reavaliadas após quatro e 14 meses de uso contínuo dos mesmos, mediante aplicação de teste de percepção de fala (TPF), audiometria em campo livre nas condições com e sem AAS e responderam aos questionários de auto avaliação validados (International Outcame Inventory for Hearing Aids - IOI-HA e Hearing Handicap Inventory for Adults - HHIA). Descrição dos casos: Na avaliação audiológica, ambas as pacientes apresentaram média dos limiares audiométricos dentro dos padrões de normalidade, porém no caso I observou-se limiares rebaixados a partir da frequência de 3kHz...
Model study: Case study. Objective: This study verified the contribution of the hearing aids on two adult patients diagnosed with auditory neuropathy spectrum (ANS), related to their communication and listening skills. Importance of the problem: Patients diagnosed with the ANS exhibit varied clinical symptoms with predominant complain of difficulty understanding speech, particularly in the presence of noise, and the literature suggests several possibilities of treatment due to these differences. Methodology: We described all audiological, electroacoustic, electrophysiological and imaging tests performed, as well as otorhinolaryngological evaluation. The study included two patients, who have gone through selection and adaptation with the hearing aids and were evaluated after four and fourteen months of continuous use of the device with the application of speech perception test, audiometry in free field with and without the device and they answered to the questionnaires of self-evaluation validated (International Outcame Inventory for Hearing Aids - IOI-HA e Hearing Handicap Inventory for Adults - HHIA). Description os cases: On the audiological assessment, both patients had average audiometric thresholds within normal limits, however for case 1 we observed downgraded thresholds from the frequency of 3 kHz...
Subject(s)
Adult , Middle Aged , Hearing Aids , Surveys and Questionnaires , Auditory Perceptual DisordersABSTRACT
Cognitive impairment has long been recognized in people with medically refractory epilepsies. Mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS), the most common surgically remediable epileptic syndrome, has been associated with a cellular prion protein (PrPc) gene (Prnp) variant allele at codon 171. The polymorphism consisting of a methionine-for-valine substitution at codon 129 has been associated with early cognitive deterioration in elderly people and patients with Down syndrome. The same variant allele in homozygosis (V129V) has been associated to a lower long-term memory in healthy humans. PrPc mediates several processes related to neuroplasticity, and its role in cognitive processes remains unknown. In this study, we evaluated the genetic contribution of Prnp alleles to cognitive performance in patients with MTLE-HS. Cognitive performance, measured with 19 neuropsychological tests, of patients with refractory MTLE-HS with the normal Prnp genotypes was compared with that of patients with the variant alleles at codons 129 and 171. With the effects of clinical, demographic, electrophysiological, and neuroimaging variable interactions controlled by multiple linear regression analysis and adjustment for multiple test comparisons, the presence of Prnp variant alleles was found not to be significantly associated to cognitive performance of patients with MTLE-HS. The presence of variant alleles at codons 129 and 171 is not associated to cognitive performance of patients with refractory MTLE-HS.
