IDEATIONAL REPRESENTATIONS OF EDENTULISM AND PROSTHETIC REHABILITATION FROM THE POINT OF VIEW OF THE ELDERLY

Objetivo: Identificar as representações ideativas de idosos edêntulos uni ou bimaxilares acerca das perdas dentárias e da reabilitação protética oral. Métodos: Estudo qualitativo, realizado entre janeiro e março de 2011 com sete idosos residentes em uma Instituição Pública de Longa Permanência do Recife-PE, com 14 idosos em atendimento na Clínica de Prótese Dentária da Universidade Federal de Pernambuco (UFPE). Coletaram-se os dados através de uma entrevista semiestruturada que passou por análise de conteúdo. Resultados: Os achados possibilitaram identificar que, para os idosos, os dentes contribuíam tanto para a saúde quanto como para facilitar interações sociais, enquanto o edentulismo foi associado a uma pluralidade de sentimentos negativos. Quanto à reabilitação protética, eles enfatizaram os prejuízos para a saúde devido a próteses mal adaptadas. Conclusão: Os idosos acreditam que o edentulismo e a reabilitação protética estão associados, principalmente, a um conceito mecanicista da profissão, amplamente difundido entre os profissionais que privilegiam mais a odontologia curativa em detrimento da prevenção. Nesse contexto, para que o envelhecimento possa ser considerado uma etapa da vida com as mesmas qualidades e dificuldades de qualquer outra, sugere-se aos gestores e aos próprios profissionais em saúde que se comprometam mais com uma prática odontológica humanizadora e preventiva, a fim de proverem os requisitos mínimos para um envelhecimento com dignidade.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: we describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.