Humans ; Hearing Loss, Sensorineural/diagnosis* ; Deafness ; Mutation

Congenital malformation of external and middle ear is a common disease in ENT department, and the incidence of this disease is second only to cleft lip and palate in the whole congenital malformations of the head and face. The external and middle ear malformations may occur separately, or as an important ear symptom of the systemic syndrome. We systematically review and analysis the genetic research progress of congenital malformation of external and middle ear, which would be helpful to understand the mechanism of external and middle ear development, and to provide clues for the further discovery of new virulence genes.
Chromosome Aberrations ; Ear, External ; abnormalities ; Ear, Middle ; abnormalities ; Genes ; Humans

Objective To perform mutation screening on the OTOF gene of 76 Chinese patients with sporadic auditory neuropathy for investigating whether the patients contained mutational hotspots in the OTOF gene,identifying the distribution and frequencies of OTOF mutations,and detecting new mutation points in the OTOF gene.Methods Genemic DNA samples were extracted from peripheral venous blood samples of the patients.9 primer pairs were designed using the Primer 5.0 software package for 9 exons of the OTOF gene,in which mutations had been discovered in the past.The exons were amplified using polymerase chain reaction(PCR),and direct sequencing of the PCR products was performed to detect OTOF mutations.For analysing the sequence data,the DNAStar 5.0 software package was used.Results 8 types of OTOF polymorphic alleles were discovered in this study.Among them,the 82 769delAG deletion mutation was only found in a patient diagnosed with temperature sensitive auditory neuropathy.In exon 25 of this patient's OTOF gene,the AG deletion mutation caused the replacement of amino acid at positions 993~999 and resulted in a truncated protein at position 1 000 amino acid(exon 26),which caused an early stop codon.(This protein has 1997 amino acids in all).Nevertheless,no other mutations were found in this patient's OTOF gene.The heterozygous 76 378C/T and 82 913G/A polymorphisms were single nucleotide polymorphisms(SNP) discovered in this study.Other SNP found were 56 842A/C,82 885C/A,and 92 905G/A,which had been already published by NCBI.In addition,92 995C/T and 96 888C/T were heterozygous mutations found in the exons,but did not cause the replacement of acid amino.Conclusion Eight SNPs were found in the OTOF gene of the Chinese patients in this study.However,mutations,which were previously identified in other ethnic origins in the literature,were not found in these patients.Thus,the result implied that the Chinese patients with auditory neuropathy may contain new OTOF mutations or other relevant disease-causing genes.

Objective:To explore the curative effect and adverse reactions of cisplatin combined with rIL-2 on malignant pleural effusion. Methods:Totally 60 cases of patients with malignant pleural effusion were randomly divided into the observation group ( 30 cases) and the control group (30 cases). In the observation group, 30 cases were given intrapleural injection of cisplatin and rIL-2 af-ter the pleural effusions were drained, and in the control group, the patients received intrapleural injection of cisplatin. Both of the two groups were observed of tumor response and drug adverse reactions, compared the quelity of life and immune function indicators before and after treatment. Results:The response rate in the observation group was 83. 3%, which was significantly higher than that in the control group (56. 7%) (P<0. 05). The improvement of Karnofsky score in the observation group was 86. 7%, which was also nota-bly higher than that in the control group(63. 3%) (P<0. 05). After the treatment, CD4 level and CD4/CD8 were significantly in-creased in the observation group(P<0. 05), while those in the control group were notably decreased (P<0. 05), and the difference was statistically significant (P<0. 05). The incidence of adverse reactions shew no significant difference between the two groups (P>0. 05). Conclusion:Cisplatin combined with rIL-2 shows confirmed effects in the patients with malignant pleural effusion.

Objective To establish an accurate, rapid and practical method for determination of lead in whole blood by graphite furnace atomic absorption spectrometry. Methods It can improve the accuracy and precision of the method by digesting blood sample in nitric acid at constant 135℃, adding matrix to standard series, using matrix modifier and changing ashing temperature of the graphite furnace. Results The linear range, detection limit, mean recovery rate and combination coefficient of variation of the method were 0-50 ?g/L, 1.96 ?g/L, 92.2% and 6.5% respectively. Conclusion This method shows some advantages such as low background, little interference, simple, rapid, sensitive, repeatable and accurate.

Objective To determine the frequency of GJB2 mutations in the China hearing loss population, and to screen the GJB2 gene in both hearing loss and normal populations. Methods 141 patients with hearing loss and 150 normal persons (control) underwent mutation screening of single coding exon of GJB2 with bidirectional sequencing to identify sequences alterations. Results Three polymorphisms were found: 79G→A, 109G→A, and 341A→G; and four pathologic mutations were identified: 235delC, 455A→G, 176-191del16 and 504insGCAA. Conclusion The 235delC mutation was found to be the significant cause of hearing loss in Chinese population.

Objective To analyze and determine the genetic characteristics of a large Chinese family with autosomal dominant nonsyndromic deafness(named pedigree Z029).Methods A hereditary deafness family was found from the profuse genetic resource established in the Otolaryngology Institute of PLA General Hospital.A sequence of bilateral sensorineural hearing impairment transmitted through five generations was found by investigating 47 individuals in the pedigree.The genetic forms of hearing loss in 18 members of the Z029 pedigree were diagnosed by otologic,audiologic,and physical examination,as well as by the study on their family history.Pedigree map was drawn by using Cyrillic2.1 software.Results The phynotype of Z029 family showed that most affected individuals had sensorineural hearing impairment with subsequent gradual progression covering all frequencies.The phynotype was transmitted from 1 to 5 generations.One of the parents of every patient was definitely a patient of the same disease.The affected ratio was same in both sexes,and the incidence of deafness declined through the first to fifth generation.Conclusion The phenotype characteristics of Z029 family were of autosomal dominant nonsyndromic hereditary deafness.In this pedigree,hearing impairment occurred in the majority of affected individuals after their twentieth year of age,and the penetrance of the impairment appeared to be age-correlated.No obvious vestibular dysfunction and other associated abnormalities were found.It may provide a foundation for the study of gene mapping and gene cloning of the pathogenic gene to analyze and determine the phenotype characteristics of this pedigree.This pedigree also provided an excellent model for the further study on the pathological and molecular mechanisms of hereditary hearing impairment related to age.

Objective To explore the influence of fixed in advance on the positive rate and integral of neutrophilic alkaline phosphatase (NAP) dyeing.Methods Totally 182 cases of fresh venous blood from inpatients in the top three hospital department of hematology were randomly selected and anticoagulated in the EDTA-K2 vacuum tube.Three blood smears from which were prepared as follows:the first blood smear(Named A) NAP dyeing completed within an hour;the second one (Named B) were fixed in advanceand NAP dyeing after one day;the third one (Named C) didn′t do any processing and NAP dyeing after one day.At the same time,the blood samples were taken from the fresh blood,and the blood smears were prepared and stained with NAP in an hour.NAP dyeing were performed by NAP dyeing for the blood smears,and 100 neutral rods,nucleus granulocyte were observed under microscope in the oil mirror vision,the test results record by positive rate and integral.Results No significant difference of NAP positive rate and integral was found in EDTA-K2 anticoagulation venous blood smear A when compared with fresh peripheral blood(P>0.05).The NAP positive rate and integral of EDTA-K2 anticoagulation venous blood smear B was slightly lower than that from fresh peripheral blood,but no significant difference was found(P>0.05).However,the NAP positive rate and integral in EDTA-K2 anticoagulant venous blood smear C has a significant difference from fresh peripheral blood(P<0.05).Conclusion The NAP dyeing results of EDTA-K2 anticoagulation venous blood smear fixed and placed one days are still reliable,while the NAP dyeing results was significantly reduced in the unfixed EDTA-K2 anticoagulation venous blood smear placed after one day.

Objective To evaluate the levels of LDH in cerebrospinal fluid in patients with different types of central nervous sys‐tem diseases .Methods Cerebrospinal fluid LDH were detected by rate assay in control group and disease group(including patients with acute leukemia ,lymphoma ,brain neoplasms and meningitis) .Results In ptients with acute leukemia ,the cerebrospinal fluid LDH level of central nervous system leukemia(CNSL) group was (28 .68 ± 9 .29)U/L ,which was higher than that of non CNSL group ,and the difference were significance(P<0 .05) .In lymphoma patients ,cerebrospinal fluid LDH level of brain metastasis pa‐tients was (125 .20 ± 115 .24)U/L ,which was higher than that of lymphoma patients without brain metastasis ,the difference was significant(P<0 .05) .In patients with brain neoplasms ,cerebrospinal fluid LDH level of meningeal carcinomatosis group was (77 . 37 ± 128 .15)U/L ,which was higher than that of primary brain neoplasms group ,the difference was significant(P<0 .05) .In pa‐tients with meningitis ,cerebrospinal fluid LDH level of tuberculous meningitis group and purulent meningitis group patients were (54 .48 ± 84 .60U/L) and (43 .54 ± 32 .05)U/L respectively ,which were higher than those of viral meningitis group patients ,and the differences were significant (P<0 .05) .Conclusion LDH in cerebrospinal fluid can be used in early diagnosis of CNSL ,brain metastsisly of mphoma ,meningeal carcinomatosis and differential diagnosis of meningitis .

Objective To find the normal range and features for auditory brainstem responses(ABR)of infants within six months,and the basic parameters for identifying the hearing impaired infants.Methods May 2006 to May 2008,60 normal infants and 20 normal adults received the ABR tests.The infants were divided into three groups:group A(6 weeks),group B(3 months)and group C(6 months).Each group consisted of 20 infants(40 ears)and the ABR data were statistically analyzed.Results At 100 dB nHL,the waveⅠ,Ⅲ,Ⅴ latencies of ABR for 6-week infants respectively were 1.49?0.08 ms,4.42?0.16 ms and 6.61?0.25 ms,for 3-month infants,1.47?0.07 ms,4.35?0.20 ms and 6.50?0.25 ms,for 6-month infants,1.45?0.07 ms,4.17?0.15 ms and 6.32?0.22 ms.At 80 dB nHL,the waveⅠ,Ⅲ,Ⅴ latencies of ABR for 6-week infants were 1.63?0.08 ms,4.52?0.17 ms and 6.74?0.26 ms,respectively,for 3-month infants,1.64?0.11 ms,4.44?0.20 ms and 6.67?0.26 ms,for 6-month infants,1.60?0.11 ms,4.27?0.16 ms and 6.43?0.24 ms.As the intensity of stimulating signals decreased,the peak latency of ABR became more delayed.The peak latencies of Ⅲ,Ⅴ waves and interval peak latencies of Ⅰ-Ⅲ and-Ⅴ waves for the infants were more delayed than those for adults,and became shorter with the increase of the infants' ages,but they failed to reach adults' levels even for 6-month infants.However,the length of wave Ⅰ of ABR for infants of different months was close to that for adults.The thresholds of ABR for the infants of different ages were not significantly different,all being close to the values for adults.Conclusion This study has analyzed the ABR wave features for the infants of three ages and this can help to define the reference ranges for the infants and to provide the parameters for early diagnosis of hearing loss among the infants.