Objective To characterize the audiological features in the infants with otitis media with effusion(OME)and to investigate the utility of variety of objective andiometry methods in diagnosis and intervention on OME.Methods Fifry six infants(40 males and 16 females)were investigated,who were referred to our clinic at the General Hospital of Chinese People's Liberation Army by the other hospitals from December 2004 to June 2007 when the infants were diagnosed or highly suspected of OME.The ages at the initial diagnosis ranged from 42 days to three years,with an average of five months.The infants,after receiving the conventional otolaryngological exams,were subjected to the tests of auditory brainstem response (ABR),otoacoustic emission(OAE),tympanometry(226 Hz and 1000 Hz)and behaviors audiometry.Results Among 56 affected infants.87 ears were diagnosed with OME,of which 31 infants were affected bilateral and 25 with monaural.For the 49 infants who received hearing screening at birth.36 infants were referred at the initial screening.For the 52 infants who received repeated screening.all subjects were referred.Six infants without receiving hearing screening came to clinic when their parents observed their kids'hearing impairment.Among the 52 cases(104 ears)who received tympanometry test,20 subjects (28 ears)showed B or C type tympanometry curve.Thirty-nine cases(78 ears)were given tympanometry test at 1000 Hz,of which 38 cases(55 ears)showed abnormal hearing.Among 56 infants(112 ears)with ABR test,49 subjects(74 ears)exhibited prolonged ABR type Ⅰ curve.All 56 infants(112 ears)received OAE test,of which 55 subjects(81 ears)were referred Four infants(8 ears)accepted the behavior test and all of them showed A-B Gap.Conclusions The combined tympanometry test at both 226 Hz and 1000 Hz,ABR latency or threshold test,infant's behavior test and OAE,used jointly,enable characterizing better OME in infants.thus helping early diagnosis of this hearing disorder.

OBJECTIVETo map the gene locus in a Chinese pedigree with autosomal dominant nonsyndromic hearing loss.

METHODSA genome wide screening was performed with 394 microsatellite markers distributed with an average spacing of 10 cM (ABI Prism Linkage Mapping Set 2, Applied Biosystems, Foster City, CA, U.S.A.).

RESULTSAffected family members showed a bilateral, symmetrical, progressive neurosensory deafness. Significant linkage was found to marker D1 S937 (maximum two point LOD score of 5. 71 at theta = 0.05) on chromosome 11q. The position of the novel deafness locus, DFNA11, was delimited by analysis of the recombinant haplotypes (D11S165-D11S1874). This analysis placed DFNA11 between the proximal marker D11S1314 and the distal marker D11S898, which define a critical interval of 25.34 cM.

CONCLUSIONSMapping of the DFNA11 locus further confirms the great genetic heterogeneity underlying the autosomal dominant forms of hereditary deafness. Reports of more families with hearing impairment linked to this locus should contribute to the identification of the responsible gene, providing insights into the auditory function and the molecular pathophysiology of age related hearing loss.

Adult ; Aged ; Chromosome Mapping ; Deafness ; congenital ; genetics ; Female ; Genes, Dominant ; Haplotypes ; Humans ; Male ; Microsatellite Repeats ; Middle Aged ; Myosins ; genetics ; Pedigree ; Young Adult

s rational, but there are differences in teaching installation between pregnant hospital and general hospital. Both of them are lacking of professional health education officers and standardized criteria for evaluation of the effectiveness of teaching.

Purpose: Gastric cancer (GC) is the second most lethal cancer globally and is associated with poor prognosis. Fatty acid-binding proteins (FABPs) can regulate biological properties of carcinoma cells. FABP5 is overexpressed in many types of cancers; however, the role and mechanisms of action of FABP5 in GC remain unclear. In this study, we aimed to evaluate the clinical and biological functions of FABP5 in GC. Materials and Methods: We assessed FABP5 expression using immunohistochemical analysis in 79 patients with GC and evaluated its biological functions following in vitro and in vivo ectopic expression. FABP5 targets relevant to GC progression were determined using RNA sequencing (RNA-seq). Results: Elevated FABP5 expression was closely associated with poor outcomes, and ectopic expression of FABP5 promoted proliferation, invasion, migration, and carcinogenicity of GC cells, thus suggesting its potential tumor-promoting role in GC. Additionally, RNA-seq analysis indicated that FABP5 activates immune-related pathways, including cytokinecytokine receptor interaction pathways, interleukin-17 signaling, and tumor necrosis factor signaling, suggesting an important rationale for the possible development of therapies that combine FABP5-targeted drugs with immunotherapeutics. Conclusions These findings highlight the biological mechanisms and clinical implications of FABP5 in GC and suggest its potential as an adverse prognostic factor and/or therapeutic target.

OBJECTIVETo discuss and analyze the feasibility and strategy for perform the newborn gene screening in the process of newborn hearing screening in order to supply the defects or limitation in the hearing screening.

METHODSFour hundreds and sixty newborn babies from December 2006 to April 2007 accepted the simultaneous hearing and gene screening. Otoacoustic emission (OAE) was used for the first step hearing screening and OAE combined with auto auditory brainstem response (AABR) detection for the second step screening. Newborn genetic disease screening cards were used for collecting the blood spot from the umbilical cord within the moment of newborn. The cards could be directly performed the polymerase chain reaction (PCR) for screening the mitochondrial 12SrRNA 1555G and GJB2 as well as SLC26A4 genes mutations. The restriction enzyme Alw26I was used to recognize the point mutation of 12SrRNA A1555G. The samples with the possible 12SrRNA A1555G mutation were then sequenced to verify. The PCR products from the GJB2 coding region and SLC26A4 IVS7-2A > G hot spot region were sequenced directly. The software of DNAStar was used to analysis the sequence.

RESULTSThe first step of hearing screening of 460 newborn babies showed " refer" on the left ear of nine babies and on the right ear of three babies. Seven showed "refer" on bilateral with the the total of babies 19. After 42 days, they accepted the second step for hearing screening. 16 of the 19 were showed "pass" with OAE and AABR. One baby showed "pass" on the left ear, "refer" on the right ear with the OAE detection but bilateral "pass" with AABR. Two babies failed to accept the re-examination. The newborn gene screening showed five of the 460 babies had the positive response on the A1555G restriction enzyme assay. Of the five babies, one was proved to be the 12SrRNA A1555G mutation and three were the C1556T mutations and one sequence was normal. For the SLC26A4 gene screening, five were the heterozygote of IVS7-2A > G mutation were found and one was carrier the polymorphism of IVS7-18T > G and another was IVS6-62_63insGT heterozygote carrier. For the GJB2 gene screening, eight were 235delC heterozygote carriers, four were G109A heterozygote carriers. All the gene screening found 23 newborn babies of the 460 harbored the changes in the three genes. Of those, one was the 12SrRNA A1555G. pathogenic mutation and 13 were pathogenic heterozygote carriers, nine were the polymorphisms. It was worth to pay more attentions that A1555G mutation was found in the baby whose hearing screening was "pass" in the hearing screening as well as the 13 heterozygote carrier for GJB2 and SLC26A4 gene.

CONCLUSIONSIt might be one of the powerful strategy for adding the concept of newborn gene screening into the hearing screening for the purpose of early diagnosis and discovery the prelingual or late-onset or the high risk as well as the pathogenic carriers. On the basis of the research progress, it was necessary to develop the national newborn gene screening into the process of newborn hearing screening.

Connexins ; Evoked Potentials, Auditory, Brain Stem ; Female ; Hearing Disorders ; diagnosis ; genetics ; prevention & control ; Hearing Tests ; Humans ; Infant, Newborn ; Male ; Neonatal Screening ; Point Mutation

OBJECTIVETo investigate the prevalence of the mitochondrial DNA (mtDNA) A1555G mutation in nonsyndromic hearing impairment (NSHI) patients from Gansu province.

METHODSSubjects included 802 students selected from five Deaf-Mute Schools in Gansu. DNA was extracted from peripheral blood of all patients. The mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). The Mutations were detected by AIw26I digestion and sequence analysis.

RESULTSThe homoplasmic A1555G mutation was found in 67 individuals from 802 patients (8.4%). Fifteen of these 67 patients had family histories.

CONCLUSIONSThe mtDNA A1555G mutation had a higher incidence in Gansu population with nonsyndromic hearing impairment than other studies. The data not only gaven more evidences that the prevalence of mtDNA A1555G mutation in china was higher than that in Europe and America, but also gaven valuable information for gene diagnosis, genetic counseling and would improve the safety of aminoglycoside antibiotic therapy.

Adolescent ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; DNA, Mitochondrial ; genetics ; Deafness ; genetics ; Female ; Humans ; Male ; Mutation ; Young Adult

Objective To investigate minimal inhibitory concentration (MIC) of ciprofloxacin against Pseudomonas aeruginosa induced by Pseudomonas quinolone signal (PQS) and ciprofloxacin in vitro.Methods Clinical isolates of Pseudomonas aeruginosa sensitive to ciprofloxacin were collected and then induced ciprofloxacin with three concentrations of 0.5 × MIC,2 × MIC and 4 × MIC,and PQS with three concentrations of 10,40,80 μmol· L-1,respectively for five days.The agar dilution method was used to measure MICs of all strains before and after inductions to ciprofloxacin.The MICs to ciprofloxacin before and after inductions of the same induction scheme were analysed by repeated measures analysis of variance and Paired t-test was used to compare the MICs of two induced schemes.Results Twelve clinical isolates of Pseudomonas aeruginosa sensitive to ciprofloxacin were obtained,among them one was used as the quality control strain included.There had interaction between induction time and induction concentrations of PQS or ciprofloxacin (P ＜0.001 or P ＜0.05).MICs of strains to ciprofloxacin of two induced schemes had statistically significant difference (P ＜ 0.05).Conclusion Under different concentrations of PQS,the trend of MIC values of ciprofloxacin to Pseudomonas aeruginosa varied by induction time.Under different concentrations of ciprofloxacin,MIC values tended to increase with the prolongation of induction time.The effects of two induction schemes on MIC of ciprofloxacin were different.

BACKGROUNDThere are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI), including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI). Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI.

METHODSTo decipher the genetic code of a Chinese family (family 686) with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years.

RESULTSWe identified a pathogenic missense mutation, c. 2081G>A (p.G694E), in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL). The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136* and p.G45E in the GJB2 gene may account for the phenotype shown in this patient.

CONCLUSIONSWe identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.

Adult ; Aged ; Asian Continental Ancestry Group ; Connexins ; genetics ; Exome ; genetics ; Female ; Genetic Linkage ; genetics ; Haplotypes ; genetics ; Hearing Loss, Sensorineural ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; genetics ; Pedigree ; Young Adult ; Zonula Occludens-2 Protein ; genetics

Objective To evaluate the safety and efficacy of cefaze-done injection ( CZD) compared with cefazolin injection ( CZL) in the treatment of acute bacterial respiratory infections.Methods Eligible subjects were divided randomly to receive 2.0 g cefazedone injection or cefazolin injection twice a day for 7 to 14 days.Efficacy and safety evaluation were done in accordance with the clinical trial protocol.Results Two hundred and sixty patients in 11 hospitals were en-rolled, 126 in CZD group( trial) and 134 in CZL group( control).There were no statistical differences in basic conditions between two groups( P >0.05 ).Cure rates of CZD group and CZL group were 95.5% and 94.9% in PPS ( P>0.05 ).Bacteria clearance rates of CZD group and CZL group were100% and 91.7% in BPPS and the total cure rates of CZD group and CZL group were 94.4% and 91.7% in BPPS, respectively ( P>0.05).Ten out off 126 patients in CZD group and 14 out off 134 in CZL group developed adverse events( AE ).Six and eleven events in CZD group and CZL group
were evaluated to be related with study drugs.One case in CZL group developed severe AE , which was considered not related with study drug.Conclusion Cefazedone injection is safe and effective in the treatment of respiratory infections.