Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.

Concurrent hearing and genetic screening of newborns is expected to play important roles not only in early detection and diagnosis of congenital deafness, which triggers intervention, but also in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced HL. Concurrent hearing and genetic screening in the whole newborn population in Beijing was launched in January 2012. This study included 180,469 infants born in Beijing between April 2013 and March 2014, with last follow-up on February 24, 2018. Hearing screening was performed using transiently evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (AABR). For genetic testing, dried blood spots were collected and nine variants in four genes, GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened using a DNA microarray platform. Of the 180,469 infants, 1,915 (1.061%) were referred bilaterally or unilaterally for hearing screening; 8,136 (4.508%) were positive for genetic screening (heterozygote, homozygote, or compound heterozygote and mtDNA homoplasmy or heteroplasmy), among whom 7,896 (4.375%) passed hearing screening. Forty (0.022%) infants carried two variants in GJB2 or SLC26A4 (homozygote or compound heterozygote) and 10 of those infants passed newborn hearing screening. In total, 409 (0.227%) infants carried the mtDNA 12S rRNA variant (m.1555A>G or m.1494C>T), and 405 of them passed newborn hearing screening. In this cohort study, 25% of infants with pathogenic combinations of GJB2 or SLC26A4 variants and 99% of infants with an m.1555A>G or m.1494C>T variant passed routine newborn hearing screening, indicating that concurrent screening provides a more comprehensive approach for management of congenital deafness and prevention of ototoxicity.

Hearing loss prevalence and risk factors among older adults in China.

OBJECTIVE: This study aims to investigate the prevalence of hearing loss, and to analyse the major demographics and risk factors that influence the prevalence in older adults of China. DESIGN: Cross-sectional investigation. STUDY SAMPLE: Probability proportionate to size sampling (PPS) was adopted for this survey. Among 45,052 individuals, 6984 older adults (≥60 years) were selected as subjects for this study. RESULTS: The prevalence of hearing loss defined as a speech frequency pure tone average of more than 25 dB HL in the better ear was 58.85%. Age and gender were the factors most strongly associated with hearing loss after multivariate adjustment. Ear disease, diabetes, hypertension, atherosclerosis, noise exposure, and ototoxic drugs were significantly correlated with hearing loss. The largest effects were found for ear disease and noise exposure (OR = 2.83 [95% CI: 2.43-3.29]; OR = 2.59 [95% CI: 1.80-3.72]). CONCLUSIONS: Hearing loss is prevalent in nearly two thirds of adults aged 60 years and older in China population. Chronic diseases, ear disease, and noise are important factors in adults aged 60 years and older.

The development of hearing in prelingually deaf children with white matter changes in the first year after cochlear implantation.

Background: The development of hearing and plasticity of brain after cochlear implantation (CI) for prelingually deaf children with white matter changes (group A) is unclear.Objective: To investigate the development of hearing for children in group A during 1 year after CI activation, compared with non-complicated peers (group B).Materials and methods: Twenty-one and 22 children (average age is about 5 years old) were included in groups A and B, respectively. Questionnaires were used to assess the hearing ability at pre-CI, 1, 6 and 12 months after CI activation (called Mpre, M1, M6, M12 for short). In addition, MMRs to pure tones were investigated at the same three time points after CI.Results: There is no significant difference in scores on questionnaires, MMR incidence, latency or amplitude between children in two groups. Scores on questionnaires showed a significant progressive improvement in two groups during the first year after CI. Furthermore, MMR incidence at M6 was significantly higher than that at M1, and MMR latency at M12 was significantly shorter than that at M1.Conclusions and significance: Prelingually deaf children with white matter changes achieved rapid development and comparable outcomes with CI peers over the first year after CI.

A preliminary study of auditory mismatch response on the day of cochlear implant activation in children with hearing aids prior implantation.

OBJECTIVE: The study aimed to explore the characteristics of auditory mismatch response (MMR) in hearing-impaired children on the day when the cochlear implant (CI) was started (power-up) and the speech processor was programmed, and to investigate the effects of wearing hearing aids (HAs) before cochlear implantation on the early stage of postoperative auditory cortex plasticity, providing some demonstrative data for the objective evaluation of postoperative early auditory ability in children who underwent cochlear implantation. METHODS: The participants were 34 children with profound sensorineural hearing loss, who underwent cochlear implantation. The classical passive Oddball paradigm was adopted, using a pair of vowels which only have different lexical tones. The standard stimulus was /a2/ and the devious stimulus was /a4/. RESULTS: 1) On the day of CI activation, the auditory MMR has been elicited in 30 children; the MMR incidence was 88%. 2) We observed both positive and negative auditory MMR waveforms. And logistic regression analysis showed that it was influenced by the age at cochlear implantation. 3) The duration with HA before surgery significantly influenced the MMR latency. The children with longer duration of HA use have much earlier latency of MMR. 4) There was a significant positive correlation between the age at HA use initiation and MMR amplitude. Earlier initial HA use was associated with smaller amplitude. CONCLUSIONS: MMR in response to Mandarin lexical tone can be recorded in most pediatric patients who had experience with HA on the day of CI power up. MMR is closely associated with the age at cochlear implantation, duration of HA use, and the age at HA use initiation. Hearing-impaired children should wear HA as early as possible and ensure consistent usage.

Speech development after cochlear implantation in infants with isolated large vestibular aqueduct syndrome.

Background: Few studies on speech performance of children after cochlear implantation (CI) described isolated large vestibular aqueduct syndrome (LVAS). Objective: To investigate speech developmental trajectories of infants with LVAS after CI, and to compare with those who have structurally normal inner ears. Materials and methods: 1112 infants with congenital severe to profound hearing loss participated in this study. 150 infants in group A were diagnosed with LVAS, 962 infants in group B with structurally normal inner ear. The speech performance was assessed via the Meaningful Use of Speech Scale (MUSS). The evaluations were performed pre-implant, 1, 3, 6, 9, 12, 24, 36, 48 and 60 months after CI. Results: The mean scores of the MUSS improved over a 5-year period after implantation in both groups A and B. The LVAS group presented similar speech developmental trajectory to the non-LVAS group at each assessment interval, except pre-operation. There were significant differences in mean scores between vocalizing behavior and oral communication skills, clarification skills of infants in both two groups. Conclusions and significance: Speech performance of infants with LVAS developed rapidly after CI and was similar to infants with structurally normal inner ear. For infants with isolated LVAS, CI had a significant effect and should be recommended as a therapeutic option.

Molecular Mechanism of Aurora Kinase A Regulating the Meiosis of Oocyte / 中国医学科学院学报

Aurora kinase A (AURKA),a family member of aurora kinases,is involved in mitotic entry,maturation and separation of centrosome,assembly and stabilization of bipolar spindle,and condensation and separation of chromosome.Studies have demonstrated that AURKA plays a similar role in meiosis,while the specific mechanism and the similarities and differences in its role between meiosis and mitosis remain unclear.Therefore,we reviewed the studies about the localization and activation of AURKA in oocyte meiosis,and compared the role of AURKA in regulating spindle formation,activating spindle assembly checkpoint,and correcting the kinetochore-microtubule attachment between the meiosis of oocytes and the mitosis of somatic cells.This review will lay a theoretical foundation for revealing the mechanism of AURKA in the regulation of cell division and for the clinical research related to cancer and reproduction.

The relationship between cortical auditory evoked potentials (CAEPs) and speech perception in children with Nurotron(®) cochlear implants during four years of follow-up.

OBJECTIVE: The purpose of the current study was to evaluate the relationship between the presence or absence of cortical auditory evoked potentials (CAEPs) to speech stimuli and the performance of speech perception in Chinese pediatric recipients of the Nurotron(®) cochlear implant (CI).We also wanted to determine how the CAEPs might be used as an indicator for predicting early speech perception and could provide objective evidence for clinical applications of CAEPs. METHODS: 23 pediatric unilateral CI recipients participated in this study. 15 males 8 females, and their ages at implantation ranged from 13 to 68 months, with a mean age of 36 months. CAEPs and Mandarin Early Speech Perception (MESP) tests were used to evaluate the audibility and speech perception of these CI users. The tests were administered at the first, second, third, and fourth year after the CI surgery. RESULTS: All the subjects demonstrated improvements in detection of speech sounds with CI. The percentages of participants who could detect all three stimuli were 26% (6/23) at first year, to 100% (23/23) at the fourth year post-implantation. The percentages of participants who passed the Category 6 of MESP were from 9% (2/23) at first year, to 91% (21/23) at the fourth year post-implantation. Significant correlations (p<0.05) were found between CAEP scores and MESP at the first, second, third year after the CI surgery. The multiple regression equation for prediction of MESP categories from CAEP scores and hearing ages was MESP=1.088+(0.504×CAEP score)+(0.964×hearing ages) (F=72.919, p<0.001, R(2)=0.621). CONCLUSION: The results of this study suggested that aided cortical assessment was a useful tool to evaluate the outcomes of cochlear implantation. Cortical outcomes had a significant positive relationship with the MESP, which predicted the early speech perception of CI recipients.

[Analysis of influencing factors on rehabilitation effects for 1 422 preschool deaf children following cochlear implantation].

OBJECTIVE: To investigate the basic factors of the progress amplitude of hearing and speech rehabilitation effect of preschool deaf children with cochlear implants, and provide guidance for the improvement and optimization of rehabilitation strategies. METHOD: Using the standard hearing and language assessment tools, tracked and evaluated 1 422 CI preschool deaf children for a period of one year, and calculated the effect of hearing and speech rehabilitation, carried out the correlation analysis and variance analysis among different grouping variables. RESULT: (1) There was a negative correlation (P<0.01) between the rehabilitation effect and cochlear implantation age, existed the different degree of positive correlation (P<0.01) between the rehabilitation effect and parents cultural level, but no correlation between the rehabilitation effect and parents hearing status.(2) Father's education level, in comparison to mother's education level, had greater impact on the children rehabilitation effect.(3)There was positive correlation(r=0.689, P<0.01) between the progress amplitude of hearing and speech rehabilitation effect. (4) The progress amplitude of auditory and language rehabilitation effect of 2-3 years old group was the highest value(the progress amplitude of hearing and speech recognition rate reached 77.5%, the progress amplitude of language age progress rate reached 2.02 years old), and there were significant differences (P<0.05) between over 3 years old groups. CONCLUSIONS: (1) To expect the better progress amplitude of rehabilitation effect, cochlear implant age should not be more than 3 years old. (2) Father's effect in the process of rehabilitation is more helpful for deaf children's learning enthusiasms.

Relationship between ischemic stroke and both gene polymorphisms of methylenetetrahydrofolate reductase and cigarette smoking / 中华神经医学杂志

Objective To study the relationship between ischemic stroke (IS) and both gene polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and cigarette smoking. Methods Four hundred and fifty-four patients with IS and 334 controls were recruited in our study; their gene polymorphisms of MTHFR were detected by PCR and denaturing high performance liquid chromatogram (DHPLC). The patients were further divided into different subgroups based on TOAST criteria and scores of neurological impairments and the distribution of MTHFR genotypes were analyzed accordingly. The relationships between IS and both cigarette smoking and these genotypes were measured by odds ratios (ORs) and 95％ confidence intervals (95％CIs). The ORs and 95％ Cls were calculated by unconditional logistic regression. Results TT genotype and T allele were associated with LAA type and CE type,moderate type and severe type of IS. OR of TT genotype and T allele in smoking patients with IS were 4.393 and 2.359, respectively; but the OR ofCC genotype in smoking patients with IS was 0.353. On the other hand, the OR of all genotypes and alleles in non-smoking patients with IS were not significantly different as compared with those in controls. Conclusion Cigarette smokers with T alleles are likely to suffer IS, but those cigarette smokers with C alleles are not; and there exist interactions between cigarette smoking and MTHFR gene in the pathogenesis of IS.

Dendritic cells and coronary collateral circulation in coronary heart disease / 中南大学学报(医学版)

OBJECTIVE@#To determine the relationship between the number,phenotype and functional status of dendritic cells (DCs) and coronary collateral circulation (CCC) in coronary heart disease (CHD).@*METHODS@#Forty patients with severe coronary stenosis were recruited and divided into a CCC formation group (Group A, n=22) and a non-CCC formation group (Group B, n=18). Density gradient centrifugation was applied to separate the mononuclear cells (MNCs) from coronary artery blood samples, and MNCs were cultured and proliferated in vitro. The morphology of DCs was observed under converted microscope. The number of harvested cells and DCs was counted by hematocytometer. Flow cytometry was applied to investigate the phenotype and the mean fluorescence intensity (MFI). Mixed lymphocyte reaction was used to test the function of DCs to stimulate the proliferation of T lymphocytes. Stimulation index (SI) was calculated and compared.@*RESULTS@#(1) After in vitro proliferation, DCs were cultured successfully from the mononuclear cells from coronary artery blood samples and the morphology of DCs was not different in the 2 groups. (2) The number of mononuclear cells (MNC no) was (3.95+/-1.41)*10(6), in the CCC group and (2.76+/-0.92)*10(6) in the non-CCC group. The MNC number was significantly increased in the CCC group (P=0.003). (3) The number of DCs was (1.54+/-0.96)*10(6) in the CCC group, and (0.99+/-0.46)*10(6) in the non-CCC group (P=0.033). (4)There was no statistical significance in the percent of CD1a+, CD1a+CD80+, CD1a+CD83+, CD1a+CD86+ cells, and MFI in the 2 groups (P>0.05). (5) SI was 4.96+/-2.30 in the CCC group, whereas 2.66+/-1.04 in the non-CCC group. The SI in the CCC group increased significantly(P=0.0003).@*CONCLUSION@#In CHD patients with severe coronary stenosis, patients with CCC formation have higher number of DCs and stronger potential of T lymphocyte stimulation.

[Study on the disabilities in aged 0-7 years children in Shenzhen, China].

OBJECTIVE: To explore the prevalence of vision, mental, audibility, language, psychiatry, extremity, and influence factors in the 0 - 7 year olds. METHODS: A total number of 77,727 0 - 7 year old children living in Shenzhen city were tested with tree phase screening under the Chinese standard of evaluation in disabilities. RESULTS: The prevalence of all disabilities was 5.59 per thousand (adjusted rate was 8.49 per thousand with a false negative of 3.1 per thousand ). The prevalence of mental disease was the highest (1.88 per thousand, with adjusted rate 3.43 per thousand ), the prevalence of language disability was 1.88 per thousand (including retarded language development, with adjusted rate 3.43 per thousand ). The prevalence rates of psychiatry, extremity and audibility disability were 1.59 per thousand, 1.56 per thousand, 1.11 per thousand respectively with of vision the lowest (0.37 per thousand ). The prevalence of all disabilities, audibility, language and mental was on the increase with age. The difference was statistically significant. Among all different age groups regarding psychiatric disease, the highest fell in the 2 - 4 year olds. The prevalence of extremity was not statistically different among age groups. The suspected agents of disease which occurred before or during pregnancy took up 45.7%. CONCLUSION: The prevalence of six kinds disabilities in Shenzhen was about 10 per thousand lower than that of the samples of the nation in 1989, but two times higher than that of similar studies in Japan. The prevalence rates of language and psychiatric disease were higher than that of the nation in 1989. The causation should be further studied.

Short and mid-term effects of percutaneous transcatheter closure of ventricular septal defects on the cardiac remodeling / 中南大学学报(医学版)

OBJECTIVE@#To evaluate the short and mid-term changes of the cardiac morphology after percutaneous transcatheter closure of ventricular septal defects (VSD) with transthoracic echocardiography (TTE).@*METHODS@#The left ventricular end-diastolic diameter (LVEDD), left ventricular end-diastolic volume (LVEDV), left atrial diameter (LAd), and right ventricular diameter (RVd) in 30 VSD patients were measured before the VSD closure,and on the 3rd day, 3rd month, and 6th month after the VSD closure by TTE.@*RESULTS@#LVEDD and LVEDV significantly decreased on the 3rd day after the VSD closure compared with pre-VSD closure. LVEDD and LVEDV continuously decreased on the 3rd month and 6th month after the VSD closure. LAd was smaller on the 3rd month and 6th month after the VSD closure, but there was not significant difference between the 3rd and 6th month. RVd increased on the 3rd day after the VSD closure, while no significant difference was found among the 3rd month and 6th month before and after VSD closure.@*CONCLUSION@#Percutaneous transcatheter VSD closure may effectively improve the cardiac remodeling in VSD patients in the short and mid-term follow-up.

Effects of intracoronary diltiazem on no-reflow phenomenon after emergent percutaneous coronary intervention in patients with acute myocardial infarction / 中南大学学报(医学版)

OBJECTIVE@#To assess the effects of intracoronary diltiazem on no-reflow phenomenon of infarct-related artery (IRA) after emergent percutaneous transluminal coronary angioplasty or/and intracoronary stenting (PTCA/Stenting) in the patients with acute myocardial infarction (AMI).@*METHODS@#We studied 34 AMI patients with no-reflow phenomenon of IRA after emergent PTCA/Stenting between January 1999 and August 2005. Urokinase-treated group (n=16) was given intracoronary urokinase 30,0000 - 50,0000 units within 15 - 30 minutes between January 1999 and April 2002 while diltiazem-treated group (n=18) was given intracoronary diltiazem 0.5 - 2 mg within 10 - 30 minutes between May 2002 and August 2005. Fifteen minutes later, coronary arteriography (CAG) was performed and the thrombolysis in myocardial infarction (TIMI) flow grade was measured.@*RESULTS@#No apparent change of TIMI flow grade was found between pre-administration and post-administration of intracoronary urokinase, but TIMI flow grade was significantly improved after intracoronary diltiazem (P<0.01). TIMI flow grade of diltiazem-treated group was significantly higher than that of urokinase-treated group after the administration (P<0.05). The percentage of the patients who reached TIMI flow grade 3 after the intracoronary administration was higher in the diltiazem-treated group than that in the urokinase-treated group (P<0.01).@*CONCLUSION@#The intracoronary administration of diltiazem 0.5~2mg can effectively improve the no-reflow phenomenon after emergent PTCA/Stenting in patients with AMI.

Effect of different doses of atorvastatin on adhesion molecules of the patients undergoing percutaneous coronary intervention / 中南大学学报(医学版)

OBJECTIVE@#To determine the effect of different doses of atorvastatin on the serum soluble intercellular adhesion molecules-1 (sICAM-1) in patients undergoing percutaneous coronary intervention (PCI).@*METHODS@#The study consisted of 38 patients with unstable angina and 10 patients with old infarction who underwent elected PCI for stenotic lesions of the coronary artery. Patients were randomly assigned to either aggressive group or conventional one. After PCI the patients took atorvastatin 20 mg per day or 10 mg per day. Blood lipid profile was examined before, and 3 months after the PCI. SICAM-1 was examined before the PCI, 48 hours and 3 months after the PCI.@*RESULTS@#The total cholesterol and LDL-Cholesterol 3 months after the PCI in the 2 groups were lower than those before the PCI (P0.05). sICAM-1 in the 2 groups 48 hours after the PCI significantly higher than that before the PCI (P<0.01). But sICAM-1 in the 2 groups 3 months after the PCI significantly lower than that before the PCI (P<0.01 or P<0.05). The aggressive group showed greater reduction than the conventional group (P<0.01). TC and LDL-C were positively correlated with sICAM-1(r=0.2413, r=0.2691, all P<0.05).@*CONCLUSION@#Atorvastatin 20 mg per day reduces TC, LDL-C, and sICAM-1 to a greater extent than atorvastatin 10 mg per day. The effect on sICAM-1 is partly related to reduce lipid profile.

Changes of the cardiac morphology and size after transcatheter closure of atrial septal defect / 中国医师杂志

Objective To evaluate the changes of the right atrium,right ventriculum,left atrium and left ventriculum after transcatheter closure of atrial septal defect(ASD) during a short to mid-term follow-up.Methods The right ventricular end-diastolic anterior-posterior diameter(RVEDD),right atrial long diameter(RADl),right atrial transverse diameter(RADt),left ventricular end-diastolic ante-posterior diameter(LVEDD),left ventricular end-diastolic volume(LVEDV) and left atrial anterior-posterior diameter(LAD) in 36 patients with secundum ASD were measured before ASD closure,after 3 days,3 months and 6 months of ASD closure with transthoracic echocardiography(TTE).Results RVEDD,RADl and RADt were significantly decreased,while LVEDD,LVEDV and LAD significantly increased 3 days after ASD closure.During 3 months follow-up,RVEDD,RADl and RADt continuously became smaller;LVEDD,LVEDV and LAD continuously became larger.At 6 months,RVEDD was significantly smaller and LVEDD,LVEDV were significantly larger than those at 3 months.No remarkable difference of RADl,RADt and LAD was found between 6 months and 3months follow-up.Conclusion Transcatheter closure of ASD not only decreases the preload of right heart and causes right atrium and right ventriculum become smaller,but also improves the geometry of left heart and causes the narrowed left atrium and left ventriculum gradually return to almost normal status.