Analysis of mitochondrial DNA gene tRNALeu(UUR) A3243G mutation in diabetic pedigrees / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the clinical characteristics and the prevalence of mitochondrial gene A3243G mutation in diabetic pedigrees.</p><p><b>METHODS</b>Nineteen suspected mitochondrial DNA diabetic family members from three families were recruited. The gene fragment was amplified by PCR, and mutation was detected by direct sequencing.</p><p><b>RESULTS</b>In three pedigrees, the three probands and their mothers were found carrying the most common nt3243A>G mutation. Most of diabetic patients in these families were deaf and diabetes was developed at early age, characterized by impaired beta cell function and low body mass index (BMI).</p><p><b>CONCLUSION</b>The mitochondrial gene A3243G mutation may cause diabetes mellitus and deaf.</p>

Relationship between brainstem auditory evoked potential and serum neuron-specific enolase in neonates with asphyxia / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the correlation between brainstem auditory evoked potential (BAEP) and serum neuron-specific enolase (NSE) in neonates with asphyxia and explore the role of NSE in the evaluation of hearing impairment following asphyxia.</p><p><b>METHODS</b>Fifty-two term neonates with asphyxia, including 38 cases of simple asphyxia (mild: 23 cases; severe: 15 cases) and 14 cases of asphyxia complicated by hypoxic-ischemic encephalopathy (HIE), were enrolled. In the double-blind trial, BAEP and NSE were simultaneously detected 7 days after birth. The patients who did not pass BAEP test received another BAEP and NSE examinations 3 months after birth. Thirty healthy term neonates served as normal control group.</p><p><b>RESULTS</b>Of the 52 neonates with asphyxia, 50.0% and 21.2% of patients failed the initial and the second BAEP tests, respectively. The detection rates of BAEP anomalies in the simple severe asphyxia group in the initial and the second tests (63.3% and 26.3%, respectively) were significantly higher than those in the simple mild asphyxia group (36.9% and 5.9%, respectively)(P<0.05). The neonates with asphyxia complicated by HIE showed a higher detection rate of BAEP anomalies in the second test compared with the asphyxiated neonates without HIE (31.3% vs 16.7%; P<0.05). Mean serum NSE levels in asphyxiated neonates were significantly higher than those in normal controls (<0.01). There were significant differences in serum NSE levels between the neonates with mild and severe asphyxia (26.70+/-2.34 microg/L vs 17.18+/-3.16 microg/L; P<0.01). The asphyxiated neonates with HIE had serum NSE levels similar to the simple severely asphyxiated neonates. Serum NSE levels in patients who failed the initial BAEP test were significantly higher than those who passed the test (25.69+/-4.12 microg/L vs 17.15+/-3.09 microg/L; <0.01). Serum NSE levels had a positive correlation with wave V reaction threshold detected in the BAFP test (<0.05).</p><p><b>CONCLUSIONS</b>The serum level of NSE is closely correlated with BAEP, and it may be useful to the evaluation of the hearing impairment and the outcome in neonates with asphyxia.</p>

Auditory capability evaluation for children after cochlear implantation using meaningful auditory integration scale / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To analyze the auditory capability of preschool children before and after cochlear implantation using meaningful auditory integration scale (MAIS) questionnaire.</p><p><b>METHODS</b>Eighty-two prelingually deaf patients participated in this study. They received a cochlear implant at the age of 3 to 6 years and 11 months. The audiologists who were trained for the research used the MAIS questionnaire. Audiologists asked for the parents' answers and recorded all the information about the device using (Q1,2) and the patient's spontaneous auditory behavioural responses including spontaneous alerting to sound Q3 approximately 6 and deriving meaning from sound (Q7 approximately 10). The evaluation was performed before operation and 1 , 3, 6 months, 1, 1.5, 2 years after switch-on.</p><p><b>RESULTS</b>The scores of question 1a and 1b were not significantly different among the different periods after switch-on. The scores of question 2 to 10 were significantly different among the different periods after switch-on.</p><p><b>CONCLUSIONS</b>Considerable variability across subjects' auditory ability after cochlear implantation was noted. Most of the patients showed no consistent response to sound in everyday life before implantation. After cochlear implantation, a significant increase in auditory capability occurred. The children demonstrated faster development of device using relative to spontaneous alerting to sound and deriving meaning from sound.</p>