ASSOCIAÇÃO DA ATIVIDADE FÍSICA DE ADOLESCENTES, FAMILIARES E PARES: UMA REVISÃO SISTEMÁTICA

Objetivo: Analisar a associação entre a atividade física (AF) de pais, irmãos e pares à AF de adolescentes brasileiros por meio de uma revisão sistemática da literatura. Métodos: Realizou-se revisão sistemática em duas etapas, em junho de 2013 e fevereiro de 2014, nas bases de dados PubMed/MEDLINE, Web of Science, EBSCO e LILACS, utilizando-se quatro grupos de descritores, sendo estes “influência de pais e irmãos”, “atividade física”, “tipo de amostra” e “nacionalidade”, nos idiomas inglês e português, que atendesse aos seguintes critérios: (i) indivíduos saudáveis; (ii) adolescentes brasileiros; (iii) estudos abordando a AF; e (iv) estudos publicados entre janeiro de 2008 e fevereiro de 2014. Resultados: A busca nas bases de dados resultou em 2.094 títulos de artigos potencialmente relevantes, mas apenas 7 atenderam a todos os critérios de inclusão. Há uma associação positiva entre a AF de pais e filhos, porém, ao estratificar por sexo, esta é encontrada apenas no feminino, tanto para a inatividade quanto para estar fisicamente ativo. O apoio social possui grande influência na AF de crianças e adolescentes, no entanto, tal associação não foi encontrada em estudos longitudinais. Conclusão: Existe uma associação positiva entre a atividade física do pai e da mãe com suas filhas, tanto para a inatividade quanto para serem ativos, mas não foram encontradas associações entre os pais e os filhos, fato também observado para com irmãos inativos. O apoio social mostrou-se eficaz para aumentar o nível de atividade física de adolescentes.

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.