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OBJECTIVES: Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness and pigment disturbance. To date, almost 100 mutations have been reported, but few reports on cases with SOX10 gene deletion. The inheritance pattern of SOX10 gene deletion is still unclear. Our objective was to identify the genetic causes of Waardenburg syndrome type II in a two-generation Chinese family. METHODS: Clinical evaluations were conducted in both of the patients. Microarray analysis and multiplex ligation-dependent probe amplification (MLPA) were performed to identify disease-related copy number variants (CNVs). DNA sequencing of the SOX10, MITF and SNAI2 genes was performed to identify the pathogenic mutation responsible for WS2. RESULTS: A 280kb heterozygous deletion at the 22q13.1 chromosome region (including SOX10) was detected in both of the patients. No mutation was found in the patients, unaffected family members and 30 unrelated healthy controls. CONCLUSIONS: This report is the first to describe SOX10 heterozygous deletions in Chinese WS2 patients. Our result conform the thesis that heterozygous deletions at SOX10 is an important pathogenicity for WS, and present as autosomal dominant inheritance. Nevertheless, heterozygous deletion of the SOX10 gene would be worth investigating to understand their functions and contributions to neurologic phenotypes.
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Deleção de Genes , Fatores de Transcrição SOXE/genética , Síndrome de Waardenburg/genética , Estudos de Casos e Controles , China , Cromossomos Humanos Par 22 , Feminino , Dosagem de Genes , Heterozigoto , Humanos , Lactente , Masculino , Fator de Transcrição Associado à Microftalmia/genética , Fator de Transcrição PAX3 , Fatores de Transcrição Box Pareados/genética , Linhagem , Adulto JovemRESUMO
OBJECTIVE@#To compare the auditory steady-state response (ASSR) test data of severe sensorineural hearing loss children with cochlear lesion and those with retrocochlear lesion and find some specific phenomena of retrocochlear lesion in ASSR, then to improve diagnostic accuracy in clinical practice.@*METHOD@#Between 2008 to 2012. 96 children (179 ears) were diagnosed with "retrocochlear auditory nerve lesion" and recieved ASSR test (" retrocochlear lesion" group). Eighty-one (143 ears) the same age children (143 ears) were diagnosed as "cochlear auditory nerve lesion" and selected them as the "cochlear lesion" group. Twenty-six (50 ears) normal hearing children at the same age who had ASSR test records selected from the pediatric hearing center database of our hospital were selected as "normal control" group. Compare the difference of ASSR threshold, ASSR elicit rate and ASSR audiogram among the three groups.@*RESULT@#(1) ASSR threshold: Compared each frequency threshold in ASSR test with cochlear.lesion group, the retrocochlear lesion group with wave V and wave I had no significant difference in 500 Hz and 1000 Hz but had significant difference in 2000 Hz and 4000 Hz. As for the retrocochlear lesion group without wave V and wave I, there was a decline in 500 Hz, 1000 Hz, 2000 Hz and 4000 Hz compared with cochlear lesion group. (1) ASSR elicit rate: When compared to retrocochlear lesion group, the cochlear lesion group had a significance lower elicit rate in the four frequency. (3) Number of elicit reactions in ASSR test . In the retrocochlear lesion group, the elicit reactions in all the four frequency in ASSR test was significantly higher than ochlear lesion group. (4) ASSR audiogram type. The proportion of rising curve audiogram in retrocochlear lesion group was 26.83% (with wave I and wave V), 40% (with wave I and without wave V ) and 33.80% (without wave I and wave V).@*CONCLUTION@#(1) Children with a severe hearing loss in ABR test and a rise type audiogram in ASSR test should be most possibly considered as retrocochlear lesion. (2) ASSR threshold cannot be used in determinate the severity of hearing loss in children with retrocochlear lesion.
Assuntos
Criança , Humanos , Limiar Auditivo , Cóclea , Patologia , Perda Auditiva Neurossensorial , Diagnóstico , Testes Auditivos , Doenças do Labirinto , Doenças do Nervo Vestibulococlear , DiagnósticoRESUMO
OBJECTIVE@#To investigate the pathogenic bacteria distribution and drug susceptibility in children with acute otitis media (AOM) in different age and different season in the Pearl River Delta region.@*METHOD@#Four hundred and forty-two children diagnosed as AOM were divided into three groups by age factor and four groups by season factor. Midge ear pus collecting and culturing were used for bacteria and antimicrobial susceptibility test.@*RESULT@#(1) Strains of bacteria were isolated from 356 children with the positive rate of 80.5%. Streptococcus pneumoniae (39.2%), staphylococcus aureus (25.9%) and haemophilus influenzae (7.4%) were the most frequently isolated pathogens. (2) Streptococcus pneumoniae was the main pathogenic bacteria in 0-1 year group and > 1-3 years group (P 3 years group (P 0.05). Staphylococcus aureus was the main pathogen in January-March group (P < 0.05); (4) Drug sensitivity shown that linezolid and ofloxacin were most sensitive to streptococcus pneumoniae and staphylococcus aureus, and macrolides had a good therapy effect to haemophilus influenzae.@*CONCLUSION@#The pathogens distribution and drug susceptibility in children with AOM were varies in different age and different season. As a result, a treatment should be done based on the climate, environment, and pathogens distribution of a region.
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Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Antibacterianos , Farmacologia , Usos Terapêuticos , China , Epidemiologia , Haemophilus influenzae , Testes de Sensibilidade Microbiana , Otite Média , Tratamento Farmacológico , Epidemiologia , Microbiologia , Estações do Ano , Staphylococcus aureus , Streptococcus pneumoniaeRESUMO
OBJECTIVE@#To analyze the audiological characteristics of the cases who failed the newborn hearing screening under the two hearing screening programs (OAE and AABR) in two different screening population(with or without high-risk of hearing loss).@*METHOD@#Three thousand two hundred and fifty-one babies (6502 ears) who failed the hearing screening twice or more and then failed in the audiological evaluation are included in the research. The cases were divided into two groups by the time accepting the screening, or = 6 months (568 cases), and then analyze the effect of age on the audiological characteristics. Compare the sensitivity and specificity of different hearing screening programs, OAE or AABR. Evaluate the audiological characteristics between the groups with or without the high-risk factors of hearing loss. Total of them were performed detailed audiological evaluation including in ABR, DPOAE, acoustic immittance, and some of them accepted ASSR test and computer tomography.@*RESULT@#85.30% to 86.54% infants accepted initial screening in Guangzhou city, and less than 64. 10% infants underwent rescreening. 0.0282% or 0.0220% infants needed immediately early intervention. The group without high-risk factors was less likely to suffer from mild to profound hearing loss than those with high-risk factors. According to different hearing screening programs, more cases passed the OAE hearing screening and more cases were diagnosed profound hearing loss under AABR screening.@*CONCLUSION@#AABR screening technology is better than OAE screening. The target population is the infants with risk factors, so perinatal history record is very important. The percentage of population who need immediately early intervention is more than 0.0282%-0.0220%.
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Humanos , Lactente , Recém-Nascido , China , Diagnóstico Precoce , Potenciais Evocados Auditivos do Tronco Encefálico , Seguimentos , Perda Auditiva , Diagnóstico , Testes Auditivos , Métodos , Triagem NeonatalRESUMO
OBJECTIVE@#To evaluate the characters and hearing changes of the infants failed in hearing screening with high-risk factors for hearing loss.@*METHOD@#Two hundred and forty-four infants (488 ears) who failed in the hearing screening or with the different results between the first and second screening, were tested by auditory brainstem response (ABR), distortion product otoacoustic emissions (DPOAE) and acoustic immittance measurement in this study.@*RESULT@#(1) A little proportion results among the three DPOAE screening was variable, the pass rate in the right-ear was higher than that in the left-ear. (2) Forty-five of 184 ears which had passed the third DPOAE evaluation had the abnormal ABR results, the discrepancy rate between the two methods was 24.5% (45/184); 20 of 304 ears which failed in the hearing screening had a normal ABR results, with the discrepancy rate of 6.6% (20/304). (3) The highest proportion of abnormal result of the ABR in each groups was mild hearing loss, normal ABR in each groups also had a large proportion. The proportion of moderate hearing loss in the group of no more than three months old infants was significantly increased compared with the other two groups (P 0.05). (4) More than 70% of type A tympanogram was found in each groups (P > 0.05), the ratio of type B in moderately abnormal group was higher than other groups. Type C was only detected in one ear with severe hearing loss. (5) 29.5% infants had suffered the hyperbilirubinemia, which was much higher than the other risk factors (P < 0.05).@*CONCLUSION@#The hearing loss of infants with high-risk factors are mostly mild, and show some indication of fluctuating. Some moderate hearing loss have the tendency to changes better. The combined use of electrophysiological measures can improve the accuracy of hearing evaluation.
Assuntos
Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Potenciais Evocados Auditivos do Tronco Encefálico , Perda Auditiva , Diagnóstico , Testes Auditivos , Triagem Neonatal , Métodos , Emissões Otoacústicas Espontâneas , Fatores de RiscoRESUMO
Objective:To discuss the characteristics of auditory brainstem response in preterm very low birth weight (VLBW) babies and to investigate the correlations between the ABR and clinical characteristics. Method: Fifty-nine VLBW babies (118 ears) were enrolled in the study and 30 term normal babies as the control group. Tympanometry, acoustic reflex, DPOAE, ABR were obtained in all the babies. Result:The prevalence of hearing loss in VLBW babies was higher than normal term babies and babies with perinatal complications higher than those without perinatal complications. There was no correlations between ABR threshold and gestational age, birth weight, postconceptional age, negative correlations between wave Ⅰ,Ⅲ and Ⅴ latencies Ⅰ-Ⅲ ,Ⅲ-Ⅴ and Ⅰ-Ⅴ intervals and postconceptional age. Wave Ⅰ and Ⅴ latencies, Ⅰ-Ⅲ and Ⅲ-Ⅴ intervals differed significantly between the two groups. Conclusion:The perinatal complications were the most important causes of the hearing loss in preterm VLBW babies than the gestational age and birth weight. There was a high prevalence of peripheral hearing loss in the preterm VLBW babies. Combining OAE and automated ABR should be applied for hearing screening. Regular follow-up was very important in all the preterm VLBW neonatal.
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Objective:To investigate the characteristic and the hearing change of hearing thresholds of the infants failing in the hearing screening.Method:802 infants(1179 ears) with hearing screening record were reviewed in the study. They had hearing screened by otoacoustic emissions (OAE).However, they failed in the first or & and second hearing screening. Auditory brainstem response (ABR) , distortion product otoacoustic emissions(DPOAE) and acoustic immittance measurement were examined. Subjects with abnormal hearing-evaluation were retested during the following 1-3 months (before 6-month-old). To analysis the characteristic and the hearing change of hearing thresholds of the tests.Result:Among 802 cases(1179 ears),the ratio of single-ear(53.2%) is higher than both-ears(39.5%), P<0.05. And there are no significance between the two groups in the ration of severe abnormal hearing-evaluation ;25.8% infants once suffered from hypercholesterolenia failed in the hearing screening,which was higer than the other known risk factors.P<0.05; Threatened abortion group has found no cases of severe hearing abnormalities; The ratio of severe abnormal hearing-evaluation in family history hearing loss group (40.9%) was higher than other high-risk factors, followed by two or more risk fators group(10.8%);56.9% of the infance who did not pass the hearing screening were found none risk factors, 42.3% of the infances who had high risk factors was normal hearing level;96 cases(138 ears) undergone twice assesement, in morderat disorder group, more cases(74.3%) changed better , and less disorder group(40.9%), severe disorder group (33.3%).Seven ears became worse; Among abnormal hearing induced by different high-risk factors, the proportion of hearing improvement in children with moderate abnormal hearing was higher than that in children with slight abnormal hearing. Ten cases(12 ears) diagnosised auditory neuropathy.Conclusion:The important factors make the follow-up decision incluing perinatal history,hearing level and age.Maybe some high-factors we did not realized. Gene screening should be paied more attention in the future work.
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OBJECTIVE@#To investigate the characteristic and the hearing change of hearing thresholds of the infants failing in the hearing screening.@*METHOD@#802 infants (1,179 ears) with hearing screening record were reviewed in the study. They had hearing screened by otoacoustic emissions (OAE). However, they failed in the first or and second hearing screening. Auditory brainstem response (ABR), distortion product otoacoustic emissions (DPOAE) and acoustic immittance measurement were examined. Subjects with abnormal hearing-evaluation were retested during the following 1-3 months (before 6-month-old). To analysis the characteristic and the hearing change of hearing thresholds of the tests.@*RESULT@#Among 802 cases (1,179 ears), the ratio of single-ear (53.2%) is higher than both-ears (39.5%), P<0.05. And there are no significance between the two groups in the ration of severe abnormal hearing-evaluation; 25.8% infants once suffered from hypercholesterolemia failed in the hearing screening,which was higher than the other known risk factors. P<0.05; Threatened abortion group has found no cases of severe hearing abnormalities; The ratio of severe abnormal hearing-evaluation in family history hearing loss group (40.9%) was higher than other high-risk factors, followed by two or more risk factors group (10.8%); 56.9% of the infancy who did not pass the hearing screening were found none risk factors, 42.3% of the infancy who had high risk factors was normal hearing level; 96 cases (138 ears) undergone twice assessment, in moderate disorder group, more cases (74.3%) changed better, and less disorder group (40.9%), severe disorder group (33.3%). Seven ears became worse; Among abnormal hearing induced by different high-risk factors, the proportion of hearing improvement in children with moderate abnormal hearing was higher than that in children with slight abnormal hearing. Ten cases (12 ears) diagnosis auditory neuropathy.@*CONCLUSION@#The important factors make the follow-up decision including perinatal history, hearing level and age. Maybe some high-factors we did not realized. Gene screening should be paid more attention in the future work.
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Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Limiar Auditivo , China , Potenciais Evocados Auditivos do Tronco Encefálico , Transtornos da Audição , Triagem Neonatal , Emissões Otoacústicas Espontâneas , Fatores de RiscoRESUMO
OBJECTIVE@#To discuss the characteristics of auditory brainstem response in preterm very low birth weight (VLBW) babies and to investigate the correlations between the ABR and clinical characteristics.@*METHOD@#Fifty-nine VLBW babies (118 ears) were enrolled in the study and 30 term normal babies as the control group. Tympanometry, acoustic reflex, DPOAE, ABR were obtained in all the babies.@*RESULT@#The prevalence of hearing loss in VLBW babies was higher than normal term babies and babies with perinatal complications higher than those without perinatal complications. There was no correlations between ABR threshold and gestational age, birth weight, postconceptional age, negative correlations between wave I, III and V latencies I - III, III - V and I - V intervals and postconceptional age. Wave I and V latencies, I - III and III - V intervals differed significantly between the two groups.@*CONCLUSION@#The perinatal complications were the most important causes of the hearing loss in preterm VLBW babies than the gestational age and birth weight. There was a high prevalence of peripheral hearing loss in the preterm VLBW babies. Combining OAE and automated ABR should be applied for hearing screening. Regular follow-up was very important in all the preterm VLBW neonatal.
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Humanos , Recém-Nascido , Estudos de Casos e Controles , Potenciais Evocados Auditivos do Tronco Encefálico , Idade Gestacional , Recém-Nascido de muito Baixo Peso , Fisiologia , Reflexo AcústicoRESUMO
OBJECTIVE@#To analyze the clinical manifestations and the cause of misdiagnosis of congenital vallecular cyst.@*METHOD@#Nineteen cases of congenital vallecular cysts were collected and reviewed retrospectively. Their clinical manifestations and diagnosis were analyzed.@*RESULT@#Their clinical manifestations included inspiratory stridor, respiratory distress, inspiratory dyspnea, feeding difficulty etc. Among 19 cases, 15 cases were misdiagnosed as neonate pneumonia (9 cases), bronchial pneumonia (5 cases), and laryngitis (1 case), respectively. All cases were diagnosed as congenital vallecular cysts by fibrolaryngoscope. The diagnosis was confirmed by pathological examination.@*CONCLUSION@#Congenital vallecular cyst is fairly uncommon. To cure these patients on time, early examination of upper airway is recommended for patients with inspiratory stridor and inspiratory dyspnea. Fibrolaryngoscope would be useful for diagnosis and timely treatment.
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Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Cistos , Diagnóstico , Erros de Diagnóstico , Epiglote , Patologia , Doenças da Laringe , Diagnóstico , Estudos RetrospectivosRESUMO
OBJECTIVE@#To explore the clinical and audiological characteristics of children with congenital malformations of the external ear.@*METHOD@#One hundred and ten patients with congenital malformations of the external ear ranged from 2002 to 2006 were involved in this study. The mean age was one year and four months. The children were divided into three groups according to the appearance of the external ear. The first group consisted of 94 patients with auricle malformation and atresia of the external auditory meatus. The second group consisted of 8 patients with abnormal external auditory meatus (no atresia) and auricle malformation. The other 8 patients only with auricle malformation were included in the third group. All children underwent ABR tests, while some of these children accepted DPOAE and Acoustic-immittance measurements.@*RESULT@#(1) Severe abnormal results of ABR were observed in 79 abnormal ears (78.22%) in children of first group, while moderate or severe abnormal results of ABR were observed only in 8 opposite side ears (normal ears). (2) Sixty-two and a half percent (5 ears) of ears of the second group (8 ears) had severely abnormal ABR results. (3) Severe abnormal ABR results occurred in 44.44 percent (4 ears) of ears of the third group (9 ears). Moderate or severe abnormal results of ABR were not observed in the opposite side ears (normal ears) in second and third groups.@*CONCLUSION@#Congenital malformations of the external ear is an important factor affecting children's hearing. Auditory nerve impairment can be observed in children with congenital malformations of the external ear.