PREVALENCE AND FACTORS ASSOCIATED WITH OVERWEIGHT AND OBESITY AMONG ADOLESCENTS OF A PUBLIC SCHOOL

Objetivo: Verificar a prevalência e os fatores associados ao sobrepeso e à obesidade entre adolescentes de uma escola pública em Campinas, São Paulo. Métodos: Estudo observacional, transversal, realizado entre julho e setembro de 2013, com 107 jovens entre 15 e 19 anos que cursavam o ensino médio em uma escola pública do município de Campinas, São Paulo. Utilizou-se um questionário para investigar dados sociodemográficos e fatores de risco para sobrepeso e obesidade. Além disso, verificaram-se dados clínicos (peso, altura, pressão arterial). Resultados: A amostra se caracterizou com predomínio de mulheres (n=65, 60,7%) com 16,5 anos em média e renda familiar entre 2 e 4 salários mínimos (n=53, 49,5%). A prevalência de sobrepeso e obesidade foi de 18 (16,8%) e 9 (8,4%), respectivamente. Destaca-se que 62 (58%) sempre omitiam uma refeição, 54 (50,5%) sempre se alimentavam vendo televisão e 56 (52,3%) não praticavam atividade física fora da escola. Tentar e não conseguir fazer dieta foi associado ao sobrepeso e à obesidade, e autoimagem curvilínea foi associada à obesidade. Conclusão: O estudo revelou que parte significativa da amostra estava com sobrepeso ou obesidade. A falha em manter uma dieta e a autoimagem curvilínea associadas às alterações nutricionais sugerem que os adolescentes tinham consciência dessas alterações e se preocupavam com o próprio peso, a ponto de buscarem a dieta para tentar emagrecer.

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.