Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness

Mutations in the GJB2 gene are the most common cause of sensorineural non-syndromic deafness in different populations. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in many countries. The aim of this study was to determine the prevalence of GJB2 mutations and the del(GJB6-D13S1830) mutation in non-syndromic deaf Brazilians. The 33 unrelated probands were examined by clinical evaluation to exclude syndromic forms of deafness. Mutation analysis in the GJB2 gene and the testing for the del(GJB6-Dl3S1830) were performed in both the patients and their family members. The 35delG mutation was found in nine of the probands or in 14 of the mutated alleles. The V371 mutation and the del(GJB6-D13S1830) mutation were also found in two patients, both are compound heterozygote with 35delG mutation. These findings strengthen the importance of genetic diagnosis, providing early treatment, and genetic counseling of deaf patients. (C) 2004 Elsevier B.V. All rights reserved.19641671879

Rinosseptoplastia em crianças Septorhinoplasty in children

Introdução: desvio do septo do nariz e/ou da pirâmide nasal ocorre menos freqüentemente em crianças, podendo ser causado no período pré-natal, no parto ou durante o desenvolvimento. A deformidade septal é uma das causas principais de obstrução respiratória, podendo ser responsável por episódios de rinossinusites, otites, dificuldade alimentar e as graves seqüelas do respirador bucal. Podem ocorrer isoladas ou combinadas com desvios da pirâmide nasal. A correção cirúrgica deve ser realizada precocemente na vida. Forma de estudo: Clínico retrospectivo. Material e método: Em estudo retrospectivo foram analisados 80 pacientes, 54 do sexo masculino e 26 do feminino, com idades entre 4 a 14 anos, e submetidos à septoplastia 65 casos, rinoseptoplastia, 11 casos, rinoplastia, 4 casos e procedimentos associados como adenoidectomia, adenotonsilectomia e cauterização intra-turbinal das conchas. Resultado: Recidivas do desvio do septo acorreram em 4 casos, desvio da pirâmide nasal em 4, sinéquias em 3, perfuração do septo e infecção em 1. Conclusão: Os desvios de septo do nariz e ou da pirâmide nasal devem ser corrigidos precocemente e as cirurgias associadas podem ser realizadas no mesmo ato cirúrgico.<br>Introdução : nasal septal deformity is one of the most important causes of respiratory obstruction in children, responsible for chronic rinossinusites, otites media, feeding difficulty and complications of oral breathers. Surgical correction should be performed, early in life, when indicated. Study design: clinical retrospective. Material and method: A series of 80 patients, between 4 and 14 years of age, on whom Septoplasty, Septorrinoplasty, Rhinoplasty associated with others surgical procedures, as adenoidectomy, adenotonsilectomy and turbinectomy is presented. Resultado: recurrence of septal deviation occurred in 4 cases, pyramid deviation in 4, sinechiae in 3, septal perforation in 1 and infection in 1. Conclusão: rinosseptoplasty can be safely performed early in life when indicated and combined surgical procedures should be realized at the same time

Annexin 1: differential expression in tumor and mast cells in human larynx cancer.

Annexin 1 protein (ANXA1) expression was evaluated in tumor and mast cells in human larynx cancer and control epithelium. The effect of the exogenous ANXA1 (peptide Ac 2-26) was also examined during the cellular growth of the Hep-2 human larynx epidermoid carcinoma cell line. This peptide inhibited the proliferation of the Hep-2 cells within 144 hr. In surgical tissue specimens from 20 patients with larynx cancer, ultrastructural immunocytochemistry analysis showed in vivo down-regulation of ANXA1 expression in the tumor and increased in mast cells and Hep-2 cells treated with peptide Ac2-26. Combined in vivo and in vitro analysis demonstrated that ANXA1 plays a regulatory role in laryngeal cancer cell growth. We believe that a better understanding of the regulatory mechanisms of ANXA1 in tumor and mast cells may lead to future biological targets for the therapeutic intervention of human larynx cancer

Fratura de mandíbula: análise de 293 pacientes tratados no Hospital de Clínicas da Universidade Federal de Uberlândia Mandibular fracture: analysis of 293 patients treated in the Hospital of Clinics, Federal University of Uberlândia

A fratura de mandíbula ocupa o segundo lugar entre as fraturas dos ossos da face, tendo havido aumento significativo de casos nos últimos anos. A não-identificação e o tratamento inadequado podem levar à deformidade estética ou funcional permanente. OBJETIVO: Avaliar os casos submetidos à redução de fratura de mandíbula no Hospital de Clínicas da Universidade Federal de Uberlândia, entre janeiro de 1974 e dezembro de 2002. FORMA DE ESTUDO: coorte historica. PACIENTES E MÉTODO: Duzentos e noventa e três pacientes foram submetidos à redução de fratura de mandíbula e retrospectivamente foram avaliados segundo fatores relacionados a: paciente, trauma, quadro clínico e tratamento cirúrgico. RESULTADOS: Houve uma clara tendência de aumento do número de fraturas de mandíbula ao longo dos anos. Houve um predomínio no sexo masculino (4:1), com pico de ocorrência entre 20 a 29 anos. As principais causas de fratura da mandíbula neste estudo foram acidentes de trânsito e violência, perfazendo juntas 72,4%. Cento e trinta e cinco pacientes apresentavam fratura única. Os sítios mais acometidos foram, em ordem decrescente, sínfise, côndilo, ângulo, corpo, ramo e processo coronóide. Foram realizadas redução incruenta (28), cruenta (213) e associação das duas (11 pacientes), sendo que 56,8% dos pacientes foram tratados nos primeiros 3 dias e 50,4% recebeu a alta hospitalar até o primeiro pós-operatório. Cerca de 10% dos pacientes apresentaram complicações, sendo osteomielite a mais freqüente. CONCLUSÃO: A incidência de fraturas de mandíbula foi marcadamente maior no sexo masculino, durante a terceira década de vida. A causa mais comum foi o acidente de trânsito e as regiões mais atingidas foram sínfise e côndilo. As fraturas isoladas de mandíbula ocorreram em mais de metade dos casos. A maioria dos pacientes foi tratada nos primeiros três dias e recebeu alta até o primeiro pós-operatório. A redução cruenta foi tratamento mais comumente empregado. A complicação mais freqüente foi a osteomielite.<br>Mandibular fracture is the second most common facial fracture and there has been a significant increase in number of cases in the last years. Misidentification and inadequate treatment can take to permanent aesthetic or functional deformity. AIM: Evaluate cases of mandibular fracture reduction in the Hospital of Clinics of the Federal University of Uberlândia, from January of 1974 to December of 2002. STUDY DESIGN: historical cohort. PATIENT AND METHOD: Two hundred and ninety-three cases of reduction of mandibular fractures were retrospectively analyzed according to factors related to: patient, trauma, signs and symptoms, and surgical treatment. RESULTS: There has been a clear tendency of increase of the number of mandibular fractures along the years. There was higher prevalence in male (4:1), with occurrence peak between 20 to 29 years old. The principal causes of fracture in this study were traffic accidents and violence, representing 72.4%. One hundred and thirty-five patients presented only one fracture. The most injured sites were, in decreasing order, symphysis, condyle, angle, body, ramus, and coronoid. We performed closed reduction (28), open reduction (213) and association of the two (11 patients); 56.8% of the patients were treated within the first 3 days; and, 50.4% were discharged from the hospital until the first postoperative day. About 10% of the patients presented complications, being osteomyelitis the most frequent one. CONCLUSION: The incidence of mandibular fractures was remarkably larger in the male sex, during the third decade of life. The most common cause was traffic accident, and symphysis and condyle were the most injured sites. Isolated fractures occurred in over half of the cases. Most of the patients were treated in the first three days and were discharged until the first postoperative visit. Closed reduction was the treatment most commonly employed. The most frequent complication was osteomyelitis