RESUMO
The present study describes the audiological profile of genetic hearing loss resulting from GJB2 mutations in northern Greece, as this represents the most frequent single cause of childhood sensorineural hearing loss. The 35delG mutation in homozygosity was detected in 27 of 107 patients (25.2%). The audiological profile is that of a profound or severe sensorineural hearing loss, with a sloping or flat configuration of the audiogram, mostly symmetrical, non-progressive and affecting more the higher frequencies. This profile underlines the importance of early identification and genetic family counseling leading to the future possibility of prevention of deafness.
Assuntos
Conexinas/genética , Predisposição Genética para Doença , Perda Auditiva Neurossensorial/genética , Mutação , Adolescente , Audiometria de Tons Puros , Criança , Pré-Escolar , Estudos de Coortes , Conexina 26 , Análise Mutacional de DNA , Feminino , Grécia/epidemiologia , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Medição de Risco , Índice de Gravidade de DoençaRESUMO
Pneumococcal otogenic meningitis is a rare postsurgical complication that can develop following stapedectomy or after cochlear implantation. The bacterial infection can be fatal in some instances. A recent increase in the incidence of otogenic meningitis among cochlear implant wearers is of concern. The majority of meningitis cases are associated with a 2-component electrode manufactured by one cochlear implant company. The device with the added 'positioner' component has been withdrawn from the market (FDA Public Health Web Notification: Cochlear Implant Recipients may be at Greater Risk for Meningitis, Updated: August 29, 2002, www.fda.gov/cdrh/safety/cochlear.html). Not all cases have been subsequent to otitis media and symptoms have developed from less than 24 h up to a few years after implantation. The purpose of this paper is to review and discuss the pathogenesis, pathology/bacteriology and to elaborate on some clinical features of otogenic meningitis in implanted children and adults. Essential aspects of surgery, electrode design, and cochleostomy seal are discussed. Conclusions are drawn from the available data and recommendations are made for good practice in cochlear implantation and follow-up.
Assuntos
Implante Coclear/efeitos adversos , Implantes Cocleares/efeitos adversos , Meningites Bacterianas/etiologia , Doença Aguda , Antibioticoprofilaxia , Desenho de Equipamento , Humanos , Meningites Bacterianas/diagnóstico , Meningites Bacterianas/terapia , Otite Média/complicações , Otite Média/microbiologiaAssuntos
Implante Coclear/métodos , Surdez/reabilitação , Adolescente , Adulto , Pré-Escolar , Implante Coclear/instrumentação , Meato Acústico Externo/diagnóstico por imagem , Meato Acústico Externo/cirurgia , Orelha Média/cirurgia , Feminino , Humanos , Masculino , Processo Mastoide/cirurgia , Pessoa de Meia-Idade , Instrumentos Cirúrgicos , Tomografia Computadorizada por Raios XRESUMO
A high-performance liquid chromatographic (HPLC) method has been developed for the analysis of several benzodiazepines and some of their metabolites in blood, plasma and urine. The method included a liquid-liquid extraction with n-hexane:ethylacetate, a gradient elution on a C8 reversed phase column with a non-electrolyte eluent and a photo diode array detection. This allowed a rapid detection, a purity check, and identification as well as quantitation of the eluting peaks. The detection limit was 10 to 30 ng and the limit of quantitation was 0.05 microgram/mL, using 1 mL of blood, plasma or urine. The procedure is applied routinely in forensic toxicological analyses involving blood, stomach content, urine and organ samples. About 30 positive cases are reported. The avoidance of the use of an electrolyte buffer in the eluent resulted in a robust procedure, free of technical problems and of long rinsing periods, suitable for routine use in forensic toxicology analysis involving blood, urine, stomach content and tissue samples.