Audiological abnormalities in patients with Turner syndrome.

PURPOSE: The purpose of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with Turner syndrome (TS) and to determine whether these characteristics correlated with the patient karyotype and age. METHOD: This was a cross-sectional prospective study. The participants underwent an audiological evaluation, including pure-tone audiometry, speech audiometry, and acoustic immittance measures. RESULTS: This study included 52 patients with TS (mean age = 19 years, SD = 6 years, range = 7-37 years). The majority of these patients had a decline in pure-tone thresholds at 8000 Hz, and most also had mild to moderate hearing loss. Most patients had normal tympanometric results. More than 80% of patients had acoustic reflexes present at 500, 1000, and 2000 Hz frequencies bilaterally, but less than 50% of the patients displayed an acoustic reflex at 4000 Hz bilaterally. The hearing loss was more prevalent in patients with a 45,X karyotype and isochromosomes as compared to patients with mosaicism. CONCLUSION: The results showed that TS patients with a 45,X karyotype and isochromosomes with loss of the p-arm of the X chromosome had a greater risk of developing hearing loss than patients with mosaicism. There was a linear association between hearing loss and age in these patients.

Acompanhamento ambulatorial de crianças e adolescentes com diabetes melito tipo 1 na cidade de Salvador / Outpatient follow-up for children and adolescents with diabetes mellitus type 1 in the city of Salvador

Conhecer o perfil do acompanhamento ambulatorial de indivíduos com enfermidades crônicas como o diabetes melito tipo 1 (DM1) é importante para avaliar a qualidade do atendimento, identificar falhas e propor ações que visem a melhorar os serviços médicos prestados a essa população. Para isso, realizou-se estudo de corte transversal, aplicando um questionário a uma amostra de 71 crianças e adolescentes com DM1, acompanhadas em 3 ambulatórios de Endocrinologia Pediátrica na cidade de Salvador (BA), entre agosto a outubro de 2004. Os resultados demonstram dificuldades quanto ao satisfatório acompanhamento ambulatorial devido ao elevado custo financeiro do tratamento, escassez de equipes multidisciplinares, pouco conhecimento sobre aspectos importantes no cuidado da doença e inexistência de um laboratório central onde todos os exames possam ser realizados gratuitamente. Ao retratar as dificuldades encontradas no acompanhamento ambulatorial de crianças e adolescentes com DM1, este trabalho contribui para o planejamento de ações e desenvolvimento de estratégias com o objetivo de reduzir a morbi-mortalidade associada ao diabetes. Além disso, é essencial que as comunidades médica e leiga exijam políticas públicas de apoio e gratuidade para tratamento desta doença.

It is important to know the outpatient follow-up profile of individuals with chronic illnesses such as diabetes mellitus type I (DM1), to evaluate the quality of care, identify mistakes, and propose measures to improve the medical services offered to this population. To achieve these objectives, a cross-sectional study was performed using a survey with a sample of 71 children and teenagers with DM1, treated in three Pediatric Endocrinology clinics in Salvador, BA, from August to October 2004. The results demonstrate difficulties in achieving an optimal level of outpatient health care due to the high costs of treatment, shortage of multidisciplinary teams, poor knowledge regarding important aspects of treating the disease, and absence of a central laboratory where all the necessary exams could be performed free. The recognition of these factors will help to develop plans and strategies to reduce the morbidity and mortality rates of this disease. In addition, it is essential that the medical and social communities demand public policies to support and offer medical follow-ups at no costs to these patients.