Effects of protein PUMA-α on the apoptosis and fibrosis of human peritoneal mesothelial cells induced by high glucose / 解放军医学杂志

Objective To explore the effects of p53 up-regulated modulator of apoptosis (PUMA)-α protein on the apoptosis and fibrosis of human peritoneal mesothelial cells (HPMCs) induced by high glucose.Methods HPMCs were induced by 50mmol/L D type glucose or mannitol for 72 hours respectively,flow cytometry was employed to detect the rate of apoptotic cells,and theexpression levels of apoptosis-and fibrosis-related proteins were detected by Western blotting.The untreated HPMCs were transfected with Lenti-PUMA-α,and the treated cells were transfected with shRNA-PUMA-α,the number of apoptotic cells and the expression levels of apoptosis-and fibrosis-related proteins were detected with the methods mentioned above.Results Flow cytometry showed that the rate of apoptotic HPMCs increased after being induced by high glucose for 72 hours,and Western blotting revealed that the expression levels of pro-apoptotic and pro-fibrotic related proteins increased,but the arrestins of apoptosis and fibrosis-related proteins decreased.Up-regulation of PUMA-α promoted apoptosis and fibrosis,while down-regulation of PUMA-α alleviated apoptosis and fibrosis of HPMCs.Conclusion High glucose may accelerate apoptosis and fibrosis of HPMCs by up-regulating the expression of PUMA-α.

Study of cochlear hydrops analysis masking procedure in patients with Meniere's disease and otologically normal adults / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The cochlear hydrops analysis masking procedure (CHAMP) is a new diagnostic technique for Meniere's disease (MD). But its value has not been well proven. This study aimed to evaluate the diagnostic value of CHAMP for MD.</p><p><b>METHODS</b>CHAMP test was taken in three populations using the Auditory Evoked Potential system delivered by Bio-logic Systems Corporation: (1) otologically normal subjects; (2) patients clinically diagnosed with definite MD; (3) patients clinically diagnosed with probable and possible MD.</p><p><b>RESULTS</b>According to the comparison between the normal and definite MD group, if the abnormal criterion of CHAMP was defined as latency delay less than 0.3 ms, then the corresponding sensitivity was only 52%. However, if the abnormal criterion was defined as latency delay between 0.6 and 3.8 ms, then a sensitivity of 93% and a specificity of 100% can be achieved. The complex amplitude ratio showed a significant overlap between normal and definite MD group. If the abnormal criterion was defined as a complex amplitude ratio less than 0.95, the corresponding specificity was only 50%. However, if the abnormal criterion was defined as less than 0.80, the corresponding sensitivity was 60%, and the specificity was 97%. If the abnormal criterion of CHAMP was defined as latency delay less than 0.6 ms or the complex amplitude ratio less than 0.80, CHAMP result can be obtained in all subjects with good sensitivity and specificity.</p><p><b>CONCLUSIONS</b>CHAMP can differentiate patients with Meniere's disease from otologically normal subjects with high sensitivity and specificity. The recommended criterion of abnormal CHAMP was a latency delay less than 0.6 ms or a complex amplitude ratio less than 0.80.</p>

Clinical and genetic research in a Chinese family with Stickler syndrome type 1 / 中华实验眼科杂志

Background Stickler syndrome is a genetic connective tissue disorder that affects the ocular,skeletal,orofacial and auditory systems.To determine the gene mutation loci can offer a basis for genetic diagnosis and management of Stickler syndrome.Objective The aim of this study was to research the clinical characteristics of a pedigree with Stickler syndrome and identify the disease-causing gene mutation.Methods This study was approved by Ethic Committee of Peking Union Medical College Hospital.The clinical study and pedigree analysis were performed in one family with Stickler syndrome type Ⅰ (STL Ⅰ).Nine family members were examined with informed consent.The entire coding regions of COL2A1 gene with flanking intronic regions were amplified by PCR and directly sequenced.The detected sequence change was confirmed to be mutationloci by examining whether they existed in normal control individuals.Mutant proteins were predicted with online software.Results There were 4 generations and 11 members in this family,and 2 members died,including 1 patient.Three patients were found in 9living families.Inheritance of this family complicd with an autosomal dominant inheritance mode.All affected individuals showed the consistent phenotypes with STL Ⅰ,including high myopia,membranous vitreous anomaly and surface central flat,short nose,palatoschisis,etc.Mutation screening of COL2A1 gene revealed that the first base of intron 12 was deleted(IVS12+1G del).Nucleotide sequence analysis showed that this mutation led to the functional abnormal of this gene by forming termination cordon in advance.This mutation occurred in all affected individuals,however,no mutation was observed in any unaffected member or 100 normal unrelated individuals.Conclusions This study identifies a novel splice-site mutation(IVS12+ 1G del)in COL2A1 gene in a Chinese STL Ⅰ pedigree.This is the first report on a mutation in a Chinese STL Ⅰ family.

Comparison of tone burst evoked auditory brainstem responses with different filter settings for referral infants after hearing screening / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>Auditory brainstem responses (ABR) evoked by tone burst is an important method of hearing assessment in referral infants after hearing screening. The present study was to compare the thresholds of tone burst ABR with filter settings of 30 - 1500 Hz and 30 - 3000 Hz at each frequency, figure out the characteristics of ABR thresholds with the two filter settings and the effect of the waveform judgement, so as to select a more optimal frequency specific ABR test parameter.</p><p><b>METHODS</b>Thresholds with filter settings of 30 - 1500 Hz and 30 - 3000 Hz in children aged 2 - 33 months were recorded by click, tone burst ABR. A total of 18 patients (8 male/10 female), 22 ears were included.</p><p><b>RESULTS</b>The thresholds of tone burst ABR with filter settings of 30 - 3000 Hz were higher than that with filter settings of 30 - 1500 Hz. Significant difference was detected for that at 0.5 kHz and 2.0 kHz (t values were 2.238 and 2.217, P < 0.05), no significant difference between the two filter settings was detected at the rest frequencies tone evoked ABR thresholds. The waveform of ABR with filter settings of 30 - 1500 Hz was smoother than that with filter settings of 30 - 3000 Hz at the same stimulus intensity. Response curve of the latter appeared jagged small interfering wave.</p><p><b>CONCLUSIONS</b>The filter setting of 30 - 1500 Hz may be a more optimal parameter of frequency specific ABR to improve the accuracy of frequency specificity ABR for infants' hearing assessment.</p>

Study of characteristic of the cochlear hydrops analysis masking procedure in normal adults / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To study the characteristic of the cochlear hydrops analysis masking procedure (CHAMP) in normal adults, and to evaluate the diagnostic values of its parameters for membranous labyrinth hydrops.</p><p><b>METHODS</b>Twenty otologically normal adults were recruited (male:female = 10:10), and their auditory brainstem responses (ABR) were obtained to six stimulus conditions using Bio-logic auditory evoked potential system: clicks presented alone (unmasked condition) and clicks presented with ipsilateral pink noise high-pass filtered at 8, 4, 2, 1, and 0.5 kHz respectively.</p><p><b>RESULTS</b>The wave V latency of ABR to the high-pass masking pink noise clicks were longer than ABR to clicks alone. The latency delays of wave V for clicks presented with ipsilateral pink noise high-pass filtered at 8, 4, 2, 1, and 0.5 kHz compared to clicks alone were (0.30 ± 0.18), (0.97 ± 0.43), (1.65 ± 0.64), (3.21 ± 0.56), (4.66 ± 0.37) ms respectively. The complex amplitude ratio between ABR to click + 0.5 kHz high-pass noise and click alone was 0.95 ± 0.11.</p><p><b>CONCLUSIONS</b>CHAMP is a promising diagnostic method for membranous labyrinth hydrops, and the latency delay of wave V might be used as the normal criterion. The specificity of the complex amplitude ratio need further evaluation in clinical work.</p>

Analysis of abnormality of the middle ear in infant and young children / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To discuss the diagnosis of middle ear abnormality in infants and young children.</p><p><b>METHODS</b>To analyze retrospectively the data of audiology (including ABR, tympanometry) and CT scanning in 31 infants and young children who presented middle ear abnormality.</p><p><b>RESULTS</b>Wave I latencies of ABR were delayed in 38 of 62 ears and not delayed in 15 ears, but CT scanning showed high density in 6 ears of these 15 ears. Wave I could not be elicited in 9 ears. Tympanometries were tested in 16 cases and were abnormal in 17 ears. CT scanning was carried out in 15 cases who's ABR and tympanometries showed abnormal. High signal intensity was present in mastoids and middle ear cavities in both ears of 12 cases and unilateral ear of 3 cases. Wave I latency of ABR was delayed and High signal intensity was present in mastoids and middle ear cavities in CT scanning of 13 ears. Wave I latency of ABR was normal, but high signal intensity was present in mastoids and middle ear cavities in CT scanning of 4 ears, there was no any ear which Wave I latency was delayed but CT scanning was normal. And disaccord among ABR, Tympanometry and CT scanning were showed. A typical case was reported.</p><p><b>CONCLUSIONS</b>The most abnormality of the middle ear could be found used the tympanometry and I latency of ABR in infant and young children, but still there were some abnormality of the middle ear could not be showed. Some quandaries were existed and more sensitivity tests were needed in the diagnosis of abnormality in middle ears of infant and young children.</p>