Auditory characteristics of noise-exposed memberscrossing age-related groups.

Objective: To report audiological characteristics in a group of noise-exposed crew members on board ships.

Methods And Materials: Clinical and audiological measurements including pure-tone thresholds, acoustic immittance results and tinnitus questionnaires were collected from both the ship crew members (study subjects) and their land based colleagues (controls).

Results: 1) Noise exposed crew members showed not only high frequency, but also low frequency hearing loss; 2) Hearing impairment increased with age, with 65.

Clinical observation on hearing conditions of centenarians in northern district of China.

Conclusion: The hearing conditions of the centenarians were quite poor as regards hearing thresholds and speech detection ability.

Objective: To investigate hearing conditions of centenarians.

Methods: A total of 54 centenarians in Rizhao and Linyi Districts in Shandong Province were investigated to assess hearing conditions of centenerians comprehensively by questionnaire investigation, pure-tone audiometry, acoustic immitance, intelligence evaluation, and speech detection scores.

Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment.

Background: X-linked hearing impairment is clinically and genetically a heterogeneous disease. Although many disorders manifest with hearing loss, a limited number of sex-linked loci and only one gene (POU3F4) have been shown to be implicated in X-linked non-syndromic hearing impairment. In the present study, we have performed a clinical and genetic analysis of a Chinese family with X-linked non-syndromic hearing loss, with emphasis on audiological findings and genomic mapping.

[Mutation screening of the COCH gene in familial and sporadic patients with late onset nonsyndromic sensorineural hearing loss among Chinese population].

Objective: To investigate the mutational of the coagulation factor C homology (COCH) gene related to autosomal dominant sensorineural nonsyndromic hearing loss (DFNA) with late onset in Chinese population.

Methods: Peripheral blood samples were collected from he members of 26 DFNA families, members of 19 small DFNA families with un recognized inheritance pattern, and 22 sporadic patients with sensorineural nonsyndromic late onset hearing loss, the hearing loss of all of which occurred during the age range 10 - 40, and 100 normal controls. From different parts of China, these subjects underwent questionnaire survey too.

Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss.

Mutations in mitochondrial DNA are one of the important causes of hearing loss. We report here the clinical, genetic, and molecular characterization of two Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the wide range of severity, age-at-onset, and audiometric configuration of hearing impairment in matrilineal relatives in these families.

Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients.

Background: Waardenburg syndrome type I (WS1) is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmental abnormalities of the eye, hair and skin, and dystopia canthorum. The gene mainly responsible for WS1 is PAX3 which is involved in melanocytic development and survival. Mutations of PAX3 have been reported in familiar or sporadic patients with WS1 in several populations of the world except Chinese.

[Mapping of gene underlying autosomal dominant non-syndromic hearing loss(DFNA)].

Hereditary non-syndromic sensorineural hearing loss is a genetically highly heterogeneous group of disorders. To date, at least 50 loci for autosomal dominant non-syndromic sensorineural hearing loss (DFNA) have been identified by linkage analysis. Here we report a huge family with late onset autosomal dominant hereditary non-syndromic hearing loss.

[Large-scale screening of mtDNA A1555G mutation in China and its significance in prevention of aminoglycoside antibiotic induced deafness].

Objective: To explore the necessity of large-scale screening of mtDNA A1555G mutation in prevention of aminoglycoside antibiotic induced deafness (AAID) and to develop a feasible method to prevent AAID.

Methods: A total of 1836 patients with non-syndromic hearing impairment (NSHI), 1352 students of schools for deaf-mutes in 11 provinces and municipality in China, 413 out-patients, and 71 persons from the families with maternal relatives suffering from AAID, underwent questionnaire survey and/or PCR for A-to-G mutation at nucleotide 1555 of the mitochondrial genome.

Results: Sixty three patients with mtDNA A1555G mutation were found among the 1836 NSHI patients.

[Genotypic analysis of familial dilated vestibular aqueduct syndrome].

Objective: To analyze clinical manifestation of patients from two families with dilated vestibular aqueduct syndrome (DVAS). Their genotypic patterns were discriminated with the genetic testing methods for PDS gene.

Method: The twin sisters from pedigree and the brother and sister from pedigree 2 all suffered from sensorineural hearing loss.

[Diagnostic methods and clinic application for mtDNA A1555G and GJB2 and SLC26A4 genes in deaf patients].

Objective: To establish the method of clinic genetic testing for common deaf genes such as mtDNA nt1555, GJB2 gene and SLC26A4 (Pendrin's syndrome gene, PDS) gene.

Methods: Three hundred and sixty seven sporadic patients with hearing loss from out-patient department of General Hospital of Chinese People's Liberation Army, 60 patients with history of maternal inherited hearing loss from 27 family, 20 congenital deaf patients from special educational school for deaf and dumb, 3 deaf patients with enlarged vestibular aqueduct (EVA) confirmed by CT scan, 50 control individuals with normal bone conductive hearing were analyzed. The genetic testing kit for mtDNA A1555G mutation was used to detect mtDNA A1555G mutation.

Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.

Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic, and molecular characterization of 16 Chinese pedigrees (a total of 246 matrilineal relatives) with aminoglycoside-induced impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although these subjects share some common features: being bilateral and sensorineural hearing impairment.

[Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].

Objective: To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2.

Methods: Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations.

Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.

We report here on the characterization of a three-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing impairment. Ten of 17 matrilineal relatives exhibited bilateral and sensorineural hearing impairment. Of these, nine matrilineal relatives, who had a history of exposure to aminoglycosides, exhibited variable severity and audiometric configuration of hearing loss.

Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss.

In this study, we report the biochemical characterization of the deafness-associated mitochondrial 12S rRNA C1494T mutation using 27 cybrid cell lines constructed by transferring mitochondria from 9 lymphoblastoid cell lines derived from a Chinese family into human mitochondrial DNA (mtDNA)-less (rho degrees) cells. Six cybrids derived from two asymptomatic members, and nine cybrids derived from three symptomatic members of the Chinese family carrying the C1494T mutation exhibited approximately 38 and 43% decrease in the rate of mitochondrial protein labeling, respectively, compared with twelve cybrids derived from four Chinese control individuals. These defects are apparently a primary contributor to significant reductions in the rate of overall respiratory capacity or the rate of malate/glutamate promoted respiration, or succinate/G3P-promoted respiration, or TMPD/ascorbate-promoted respiration in mutant cybrid cell lines derived from either symptomatic or asymptomatic individuals.

[Pedigree analysis and sequence analysis of mtDNA 12srRNA, tRNA(Leu(UUR)), tRNA(Ser(UCN)) gene in nonsyndromic inherited deafness pedigrees].

Objective: To investigate the proportion of mtDNA mutation in the non-syndromic genetic hearing loss (NSHL) pedigrees and the genetics statistical formulae for maternal inheritance, to study the relationship of mtDNA mutation and inherited deafness, to identify the incidence of the mtDNA mutation in such pedigrees and sporadic patients with Sensorineural hearing loss (SNHL).

Method: Twenty-nine pedigrees with NSHL were collected. Pedigree Investigation was taken.

Correlation of cochlear blood supply with mitochondrial DNA common deletion in presbyacusis.

Objective: To study the relationships between cochlear hypoxia, mitochondrial (mt) DNA4977 deletion and metabolic features of mtDNA in presbyacusis.

Material And Methods: Sixty-seven temporal bones from a presbyacusis group, an age-matched control group and a young and middle-aged control group were involved in the experiment. Nested and tri-nested polymerase chain reactions (PCRs) were applied to test for the presence of the mtDNA4977 deletion.

[Phanerogenetic retrocochlear low frequency hearing loss].

Objective: To study the pathogenisis of retrocochlear low frequency hearing loss.

Methods: Clinical and audiologic findings [auditory brainstem response (ABR), evoked otoacoustic emission (EOAE), et al] of 29 cases with retrocochlear low frequency hearing loss were studied.

Results: The head injury, acoustic neuroma, peripheral neurophathy, hereditary hear loss, multiple sclerosis and brainstem disease can cause retrocochlear low frequency hearing loss.

[KCNQ4 gene mutations affected a pedigree with autosomal dominant hereditary hearing loss].

Objective: To investigate if the KCNQ4 gene contributes to a Chinese non-syndromic hearing loss pedigree and to detect the gene mutations in the pedigree using candidate approach.

Methods: PCR-SSCP and clone sequencing were performed to identify the mutations and polymorphism in PCR products of KCNQ4 coding sequence in the six-generations pedigree of autosomal dominant hereditary hearing loss.

Results: Mutations and polymorphism detection were performed on the KCNQ4 coding sequence in 36 family members of the pedigree.

[A report on a large family with X-linked recessive nonsyndromic hereditary low frequency neuropathic hearing impairment].

Objective: To analyze the genetic causes of low frequency neuropathic hearing impairment.

Methods: Using the network established by our institute, the proband of the low frequency neuropathic hearing loss pedigree was found. Then, investigation was carried out in the family from the proband.

[Animal experimental study of effects of long-term triamcinolone acetonide acetate nasal spray on the nasal mucosa].

Objective: To explore the effects of triamcinolone acetonide acetate nasal spray on the animal's nasal mucosa.

Method: Animals were divided into three groups: group one for high dosage; group two for low dosage; group three for control. Animals were given the high dosage of triamcinolone acetonide acetate nasal spray (880 micrograms), low dosage of triamcinolone acetonide acetate nasal (220 micrograms), 0.

[Screening for mitochondrial DNA mutation in two pedigrees with nonsyndromic inherited sensorineural hearing loss].

Objective: To investigate the genetic mechanism of maternal nonsyndromic inherited sensorineural hearing loss(SNHL), to identify the incidence of the 7445(G) mutation in such pedigrees and sporadic patients with SNHL, and to provide the theoretical evidence for the diagnosis of this disease.

Methods: Blood samples were obtained from 2 pedigrees and 14 sporadic patients with SNHL. DNA was extracted from the isolated leukocytes.