Hearing Tests ; Humans ; Infant, Newborn ; Neonatal Screening

Objective To explore the influence of screening programme on awareness of cervical cancer prevention among 30 to 59 years old women who live in rural areas of Beijing.Methods A face-to-face cross-sectional survey on women's knowledge on cervical cancer prevention was conducted in 2008 and 2009 among subjects recurited by three-stage stratified random sampling.ResultsUnivariate analysis showed that since the initiation of cervical cancer screening in Daxing District of Beijing,the overall awareness of cervical cancer was significantly increased among women residents,and the percentage of women with 5 or more correct answers was increased from 37.3％ to 51.0％ ( x2=62.06,P＜0.001).After adjusting confounding factors,multivariate analysis showedthat cervical cancer screening programme contributed to improved awareness of cervical cancer-related knowledge ( OR =1.853,95％ CI1.590 -2.159).In addition,current place of residence,education level,household income per-capita and screening history within 5 years were major factors affecting women's awareness of cervical cancer ( OR vales were 1.766,2.580,1.350 and1.676,respectively),and higher education level and personal income were correlated with increased awareness rate.ConclusionCervical cancer screening could improve general knowledge of cervical cancer,especially for those who have never participated in the screening programme.

ObjectiveTo explore the effects of sacral neuromodulation using a new tined-lead electrode on neurogenic bladder.MethodsThe use of a new tined-lead electrode for sacral neuromodulation was evaluated in a study including 5 consecutive patients with neurogenic bladder.The tined leads were implanted at the S3 foramen under the X-ray screening.Subjects completed the recording of detailed voiding diary pre-and post-operation including fluid intake,voided volume,leaked volume,catheterized volume,frequency,accompanying symptoms and sensation.Vesicourethral function was assessed by video-urodynamics.ResultsUrinary frequency and voided volume were improved 22% and 49% respectively in one patient with spinal bifida.Urinary frequency,voided volume and residual volume were improved 0.7%,11% and 46% respectively in another one.Urinary frequency,voided volume and residual volume were improved 0.4%,18% and 44% respectively in the third one.Frequency of leakage and leaked volume were improved 36% and 54% respectively in the patient with brain trauma.Frequency of CIC and catheterized volume were improved 42% and 54% respectively,and indexes of urodynamics were improved 37%～45% in the patient with spinal cord injury.ConclusionA new tined-lead electrode for sacral neuromodulation provide a new alterative and minimally invasive procedure to treat neurogenic bladder.

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

Objective To design a channel in the mobile hospital to solve the existing problems.Methods The technical form and characteristics of the existing channel were analyzed,and the requirements of the mobile hospital and channel shelter were considered comprehensively,then the selection of technical form and structure design of the channel shelter was explored from the aspects of airtightness,heat preservation and etc.The feasibility was verified by trial-manufacture and test.Results A shelter-tent channel was designed and the experiments showed its effectiveness when fulfilling the requirements of the mobile hospital.Conclusion The channel gains reasonable and feasible design,and has its performances meeting the desired requirements.

Objective:To analyze the liver injury,and the percentage,apoptotic status,cytokine profiles of immune cell subsets in liver from IκBα transgenic mice.Methods:HE staining was performed to detect the liver injury.FACS was used to evaluate the percentage and phenotype of immune cell subsets,including T cells,NK cells and NKT cells,and Annexin V staining was used to evaluate the apoptosis rate of NK and T cells.Furthermore,real-time quantitive PCR was performed to analyze the expression of CCL2,IFN-γ,IL-2 and IL-15.Results:Liver injury was observed in IκBα transgenic mice.The percentage of T cells was lower in liver from IκBα transgenic mice than that in Wild Type(WT) mice,a similar trend was found in NK cells and NKT cells.We also found that NKp46 was inhibited in NK cells from IκBα transgenic mice,accompanied with the increased apoptosis.Also,IFN-γand CCL2 were decreased in IκBα transgenic mice.Conclusion:The percentage,phenotype and cytokine profile of immune cell subsets were affected in IκBα-transgenic mice.

OBJECTIVETo investigate the clinical classification and relationship with conductive deafness of congenital middle ear malformations.

METHODSFrom 1995 to 2004, 64 patients (82 ears) with single congenital middle ear malformations were operated in the ENT department of the General Hospital of Chinese People's Liberation Army. According to the histology and embryology of middle ear and the findings of surgical exploration, the clinical classification was performed. Statistical analysis was used to judge the differences of hearing loss in different type of congenital middle ear malformations.

RESULTSAccording to the embryologic development of the structures in middle ear, congenital middle ear malformations were classified 4 types. Type A: congenital ossicular chain anomalies; type B: congenital fusion of stapes; type C: congenital hypoplasia or atresia of oval/round widows. Hearing loss of three types on language frequency have no obvious difference (P = 0.1617), but there were statistical difference on high frequency ( > 2 kHz) between type A with type B and type C (P <0.05). Furthermore, descension of bone conduction and mixed deafness were familiar in type B and C.

CONCLUSIONSAccording to embryologic development, it was rational that congenital middle ear malformations were classed 3 types mentioned above. Hearing loss due to middle ear malformations could be distinguished by descension of bone conduction and air conduction on high frequency ( >2 kHz).

Adolescent ; Adult ; Child ; Child, Preschool ; Congenital Abnormalities ; classification ; diagnosis ; Ear Ossicles ; abnormalities ; Ear, Middle ; abnormalities ; Female ; Hearing Loss, Conductive ; classification ; congenital ; diagnosis ; Humans ; Male ; Retrospective Studies ; Young Adult

Objective To investigate the genetic etiologies in the 0 -3 years old infants with hearing loss and to analyze the interaction between genetics and environmental factors. Methods Total of 130 infants were performed detailed audiological evaluation as well as the detection of the popular deafness gene mutations in GJB2 gene, SLC26A4 and mtDNAI2SrRNA. Of them, 84 cases were performed the computer tomography or magnetic resonance imaging examinations. Results Of the 130 cases, 54 infants were diagnosed as large vestibular aqueduct syndrome, while seven of 130 were as auditory neuropathy and the others were diagnosed as sensorineural hearing loss. Considering of the risks of etiologies for hearing loss, 85 of them had the experiences of the high risk factors at birth(65.4% ,85/130), while 23 of them had the exposure of aminoglycoside antibiotics, and 13 had the family history background as well as two eases were from the consanguineous families. In the causative genes screening, 42 infants were caused by the mutations of SLC26A4 gene (32.3%), but 14 infants found the mutations in GJB2 gene (4.6%), and no infants carried the mutation in mtDNA 12SrRNA 1555G and 1494T points in our studies. Conclusions In our studies, about 36. 9% infants hearing loss cases can be found the mutations in SLC26A4 and GJB2 genes. It is essential to put the idea into the hearing evaluation combined with genetic testing for the diagnoses of heating loss. It is also helpful for exploring the etiologies of hearing loss and performing the target genetic consulting for decreasing the prevalence of deafness in the future.

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

Objective To estimate correlation between phonetically balanced maximum(PB max)and pure tone auditory threshold in auditory neuropathy(AN)patients.nethods 0ne hundred and six ANpatients were identified using multipie criteria including PB max,a metric for speech recognition,pure tone auditory threshold.acoustic emission test.distortion products otoacoustic emission(DPOAE) and auditory brainstem response(ABR).SPSS statistical software was used to estimate the Pearson's correlation between PB max and pure tone auditory threshold and to test whether pure tone auditory threshold,or auditory configuration had a significant impact on PB max.Results Even the patients had the same or similar values for pure tone auditory threshold or auditory configuration.varied values of PB max were found in two hundreds and twelve ears for 106 patients.Analysis of the data for 106 patients revealed a negative correlation(r=-0.602,P<0.01) between PB max and pure tone auditory threshold,i.e.hearing loss at a mild relates to a lower PB max.By using analysis of variance(ANOVA)method,it Was found that both pure tone auditory threshold and auditory configuration had a significant(P<0.01)impact on the patients' PB max.Conclusions This analysis implicated the promise and potential of pure tone auditory threshold and auditory configuration for predicting PB max of the AN patients,and improving the diagnosis of AN.