ABSTRACT
Charcot-Marie-Tooth's disease (CMT) represents the most common inherited neuropathy. Most patients are diagnosed during late stages of disease course during adulthood. We performed a review of clinical, neurophysiological, and genetic diagnoses of 32 patients with genetically defined childhood-onset demyelinating CMT under clinical follow-up in a Brazilian Center for Neuromuscular Diseases from January 2015 to December 2019. The current mean age was 33.1 ± 18.3 years (ranging from 7 to 71 years) and mean age at defined genetic diagnosis was 36.1 ± 18.3 years. The mean age at onset was 6.1 ± 4.4 years. The most common initial complaint was bilateral pes cavus. The genetic basis included PMP22 duplication (CMT1A) ( n = 18), GJB1 (CMTX1) ( n = 5), MPZ (CMT1B) ( n = 3), FIG4 (CMT4J) ( n = 3), SH3TC2 (CMT4C) ( n = 1), PLEKHG5 (CMTRIC) ( n = 1), and PRX (CMT4F) ( n = 1). Almost all patients ( n = 31) presented with moderate or severe compromise in the CMT neuropathy score 2 with the highest values observed in CMT1B. Medical history disclosed obstructive sleep apnea ( n = 5), aseptic meningitis ( n = 1/ MPZ ), akinetic-rigid parkinsonism ( n = 1/ FIG4 ), and overlapping chronic inflammatory demyelinating polyneuropathy ( n = 1/ MPZ ). Motor conduction block was detected in three individuals ( PMP22 , FIG4 , MPZ ). Acute denervation occurred in seven patients. Nonuniform demyelinating patterns were seen in four individuals (two CMT1A, one CMT1B, and one CMTX1). Abnormal cerebral white matter findings were detected in CMT1A and CMTX1, while hypertrophic roots were seen in CMT1A, CMT1B, and CMTX1. Our study emphasizes a relative oligogenic basis in childhood-onset demyelinating CMT and atypical findings may be observed especially in MPZ , PMP22 , and GJB1 gene variants.
ABSTRACT
Objetivo: descrever o perfil dos acidentes de trabalho entre médicos e profissionais de enfermagem.Metodologia: estudo exploratório, descritivo e quantitativo, realizado em um hospital-escola público na cidade de Teresina, Piauí, com 67 profissionais de saúde. Os dados foram obtidos nos meses de fevereiro-maiode 2011, por meio de um formulário, e analisados no Programa Statistical Package for the Social Science,versão 20.0. Resultados: Verificou-se que 28 profissionais afirmaram ter sofrido acidentes, sendo a categoriade técnico de enfermagem a mais prevalente. Quanto à faixa etária, os mais atingidos estiveram entre 41 e 50 anos. Quanto à frequência, 11 tinham sofrido dois acidentes, 10 apenas um e 2 com três acidentes, somando um total de 34 acidentes. A punção venosa periférica foi a prática mais envolvida nos acidentes, sendo citada por 16 das 28 vítimas. 47 participantes citaram a Comissão Interna de Prevenção de Acidentes como local ao qual deveriam comunicar o acidente. Conclusão: verifica-se a necessidade de cursos de educação continuada sobre o uso de barreiras de contenção e prevenção de acidentes para minimizar riscos e garantir a segurança aos trabalhadores.
Objective: describe the profile of occupational accidents among doctors and nurses. Methodology: exploratory, descriptive and quantitative study, conducted at a public teaching hospital in the city of Teresina, Piauí, with 67 health professionals. Data were obtained in the months from February to May 2011,through a form, and analyzed the program "Statistical Package for the Social Sciences", version 20.0. Results: It was found that 28 professionals reported injuries, being the most prevalent category of nursing technician. As to age, the most affected were between 41 and 50 years. Regarding frequency, 11 had suffered two accidents, only one 10 and 2 with three accidents, with a total of 34 accidents. Peripheral venous puncturewas practicing more involved in accidents, being mentioned by 16 of the 28 victims. 47 participants cited the Internal Commission for Accident Prevention as a place you should report the accident. Conclusion: verifies the need for continuing education courses on the use of containment barriers and accident prevention tominimize risk and ensure the safety of workers.
