Factors influencing dental appearance satisfaction in adolescents: a cross-sectional study conducted in Southern Brazil

The perception of dental aesthetic appearance may affect social interaction and psychological status, influencing dental needs and the search for treatments. Aim: To investigate the satisfaction with dental appearance and influencing factors among adolescents. Methods: The study was carried out among adolescents aged 14 to 19 years attending a private high school in Brazil. Data on demographic information, the perception of dental appearance, previous aesthetic treatments and wish to perform dental treatments were collected in the school. Data were analyzed using Pearson’s chi-square test or Linear Trend. Multivariate analysis was performed using the Poisson regression. Results: A total of 531 adolescents (Response rate = 98.3%) answered the questionnaire. The prevalence of dissatisfaction with dental appearance was 17.4%. Almost 65% had history of previous orthodontic treatment and 16% performed dental bleaching. Approximately 45% of children wished to undergo orthodontics and 54.8% to bleach their teeth. Dissatisfaction with dental appearance was associated with individuals unsatisfied with dental color (95% IC[1.73;4.32]), those perceiving poor dental alignment (PR3.16 95% IC[2.11;4.72]) and those wishing orthodontic treatment (PR2.9; 95% IC[1.79; 4.70]). Conclusions: The prevalence of dissatisfaction was considerable and was associated with aesthetic concerns such as tooth color, dental alignment and with the wish for orthodontics. In this young population, a large part of adolescents had already performed orthodontic and bleaching treatments and wished to perform those treatments again. Satisfaction with dental appearance could affect the adolescents’ behavior regarding search for dental treatment, thus causing possible overtreatment.

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.