Objective To investigate the spatiotemporal expression pattern of metabotropic glutamate receptor 4(mGluR4)in the mouse cochlear basilar membrane and its dynamic changes during postnatal development until hair cell synaptic maturation.Methods Ten healthy 3-month-old C57BL/6L wild-type mice(5 males,5 females,25～35 g)were bred to obtain offspring.Cochlear samples from postnatal days 1～30(P1～P30)were analyzed.Frequency-specific auditory brainstem response(ABR)thresholds were measured at 45.2,32.0,22.6,16.0,11.3,8.0,5.6,and 4.0 kHz in P12,P14,P16,P21,and P30 mice.Immunofluorescence assay combined with confocal laser scanning microscopy was used to scan cochlear whole-mount preparations.Spatiotemporal co-localization profiling of mGluR4 and synaptic markers Ctbp2 and Snap25 was observed,and quantitative comparisons of fluorescent puncta density were performed.Results ABR testing revealed undifferentiated waveforms in all P12 mice,while 70%of P14 mice exhibited well-defined Wave I.In P14,P16,P21 and P30,mice undergoing ABR testing,50%failed to exhibit ABR waveforms when stimulated by 45.2 kHz tones,and 87.5%showed no response to 32.0 kHz stimuli.Auditory response thresholds for other frequencies progressively decreased with increasing postnatal age.Immunolocalization demonstrated stronger mGluR4 expression in inner hair cells(IHCs)versus outer hair cells(OHCs).Distinct mGluR4 puncta were observed at IHC presynaptic active zones(co-localized with Snap25)as early as P11,but showed minimal overlap with CtBP2-labeled ribbons.Quantitative analysis revealed significantly higher mGluR4 puncta density at P30 compared to P14 synapses(P<0.05).Conclusion Postnatal upregulation of mGluR4 at IHC synaptic regions correlates with functional maturation.These findings suggest mGluR4 may modulate vesicular exocytosis regulation and exert pharmacological inhibition on glutamate release,potentially influencing synaptic plasticity during auditory pathway refinement.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with non-syndromic hearing loss (NSHL). METHODS: Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result. Candidate variants were verified by Sanger sequencing. RESULTS: Two patients from the pedigree were discovered to carry compound heterozygous variants of the TRIOBP gene, namely c.3299C>A and c.5185-2A>G. Their parents had normal hearing and were both heterozygous carriers of the above variants. Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously. CONCLUSION Pathogenic variants of the TRIOBP gene comprise an important factor for NSHL. The novel c.5185-2A>G and c.3299C>A variants discovered in this study have enriched the mutational spectrum of the TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family.
Deafness/genetics* ; Hearing Loss, Sensorineural/genetics* ; Heterozygote ; Humans ; Microfilament Proteins/genetics* ; Mutation ; Pedigree ; Whole Exome Sequencing

Objective To compare and study the two kinds of quality control methodologies related to intelligent quality management system ( iQM) and traditional quality control , and the quality control performance of iQM equivalent to traditional quality control were evaluated , ensuring the accuracy of the results of blood gas testing.Methods Beijing Chaoyang Hospital of Capital Medical University , Beijing Tiantan Hospital of Capital Medical University , Shanghai Longhua Hospital of Shanghai University of Chinese Medicine, and Sichuan Provincial People′s Hospital, these 4 medical institutions were selected to implement this study.During the period from June 2016 to December 2016, in the routine detection of total 3 712 specimen, the iQM and traditional quality control modes were used simultaneously to calculate the mean values of all blood gas parameters quality controls , SD, CV (%) and Sigma values, to evaluate the quality control performance and difference of the two quality control modes .Results During the process of testing blood gas samples from 3 712 specimen in 4 hospitals, iQM process control solution ( PCS) A, B, C ran 1 089, 7 678 and 154 quality control samples respectively , and 732 external quality control samples were run by traditional quality control mode .Considering the most sensitive parameters of blood gas testing pO 2, iQM PCS A, B, C′s Sigma value are higher than 8, however, the traditional quality control′s Sigma value are less than 6; For parameters pCO2, pO2and Na+, there exists significant difference between two quality control methods (P＝0.004 8,P＝0.000 1,P＝0.004 4,P＜0.01), other parameters pH, K+, Ca ++, Glu, Lac and Hct, there exists no significant difference between two quality control methods (P＝0.250 6, P＝0.062 3,P＝0.034 0,P＝0.346 9,P＝0.186 3,P＝0.823 1,P＞0.01).Totally 22 errors detected by iQM, includes 14 micro-clots and 8 interferences samples, which were not detected by traditional quality control .Conclusions The error in blood gas analysis mainly comes from the pre-analytical phase.iQM enhanced specimen inspection capabilities and make up for the inability of traditional quality control to monitor the quality of specimens , enabling full-scale, real-time, and dynamic monitoring of each specimen , powerful error detection capabilities , and automatic error correction capabilities . Besides, automatic documentation saves staff much time.The system can effectively ensure the accuracy of blood gas test results, meet the quality requirements of related laws and regulations and related industry standards , and also can meet the clinical intended use , providing new ideas for POCT quality management and improvement.

Objective To investigate patient doses undergoing routine interventional cardiology procedures in China. Methods A retrospective analysis was performed on 238 adult patients who achieved one of interventional procedures including coronary angiography (CAG), percutaneous coronary angioplasty (PTCA) and radiofrequency catheter ablation (RF). According to intervention operations, all cases were divided into three groups:CAG (77), PTCA (95) and RF (66). Data of four special metrics, peak skin dose (PSD), dose-area product (DAP), cumulative dose (CD), and fluoroscopy time (FT), these parameters were measured and collected for these procedures. Frequencies of high-dose cases (PSD>2 Gy and PSD>3 Gy) were specifically recorded. Third quartile of DAP distribution was used to establish dose reference level (DRL) and then DRL values in this study were compared with ones reported in literatures. Wallis Kruskal rank-sum test was used to compare radiation dose of patients undergoing different intervention procedures. The total correlation among CD, DAP and PSD was analyzed by Spearman method. Results For patients undergoing CAG,PTCA and RF procedure, the median PSDs were 0.24, 1.05 and 0.62 Gy, respectively.The median DAPs were 34.99, 94.53 and 36.33 Gy · cm2, respectively.The median CDs were 0.39, 1.27 and 0.36 Gy, respectively.The median FTs were 4.50, 15.31 and 13.40 min, respectively. The difference among procedures was statistically significant (χ2=105.083, 92.032, 115.509, 100.883, respectively, P<0.01). For
all cases, DAP and CD were correlative (r=0.845, P<0.01), also PSD and CD (r=0.779, P<0.01), PSD and DAP (r=0.938, P<0.01). There were 9.2% (22/238) patients with PSD>2 Gy, including 14 patients undergoing PTCA and 8 patients undergoing RF. There were 1.6% (22/238) patients with PSD>3 Gy, including 1 patients undergoing PTCA and 3 patients undergoing RF. The DRL for PTCA in this study is 133 Gy · cm2 and higher than that in literatures. The DRL for CAG in this study is 46 Gy · cm2 and slight lower than that in literatures. The DRL for RF in this study is 49 Gy·cm2. Conclusion Data from this study are in the range of most reported values for CAG and RF procedure, while higher than that obtained in some literatures for PTCA.

Objective To evaluate the parallactic unsharpness caused by flat panel detector in digital radiography using different incident angle of central ray. Methods R-1 square-wave phantom was exposed by Kodak DR3000 system with X-ray tube angled 0°, 10°, 20°, 30°, and 40° respectively. Then,presampled modulation transfer function (MTF) was calculated for each case above. Subsequently,experimental data were processed and Wilcoxon signed ranks test were performed by statistic software SPSS 10. 0, in which P ＜ 0. 05 was considered as statistically significant difference. Results The presampled MTF curves of incident angle of 0°-40° degree, were presented orderly from top to bottom, especially the incident angle of 40° was obviously the lowest. The incident angle of 0° was considered as a control group and other groups were compared against it. There was no statistically significant difference for MTF of incident angle of 10°( Z = - 1. 893 ,P = 0. 058 ), while there were significant difference for MTF of incident angle of 20°, 30°, and 40° ( Z = - 2. 547, - 2. 666, - 2. 666, P ＜ 0. 05 ). Conclusions For flat panel detector in digital radiography, the bigger the incident angle of central ray, the larger the parallactic unsharpness. In addition, this effect has less influence on structures of low spatial frequency than those of high spatial frequency.