Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
Humans ; Sulfate Transporters ; Vestibular Aqueduct/abnormalities* ; Mutation ; Membrane Transport Proteins/genetics* ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing

Objective:To investigate the effect of salidroside on the proliferation and invasion of prostate cancer PC-3M cells and the possible molecular mechanism.Methods:PC-3M cells were treated with different concentrations (0, 50, 100, 150, 200 nmol/L) of salidroside for 48 h, and MTS assay was used to detect the effect of salidroside on the proliferation of PC-3M cells. The PC-3M cells treated with the most obvious inhibitory effect concentration of salidroside were selected as the salidroside group, and the PC-3M cells treated with 0.9% NaCl were selected as the control group. Transwell assay was used to detect the effect of salidroside on PC-3M cell invasion. The expression difference of LINC01207 between prostate cancer tissues and adjacent tissues was analyzed by using GEPIA database. Real-time quantitative polymerase chain reaction (qRT-PCR) was used to detect the expression of LINC01207 and miR-1182 in PC-3M cells after salidroside treatment. Western blot was used to detect the expressions of proliferation and invasion related proteins in PC-3M cells after salidroside treatment.Results:After treated with 0, 50, 100, 150, and 200 nmol/L salidroside, the absorbance values of prostate cancer PC-3M cells were 0.98±0.17, 0.72±0.08, 0.47±0.10, 0.12±0.03, and 0.42±0.05, respectively, and the difference was statistically significant ( F = 42.02, P < 0.05); and 150 nmol/L salidroside had the most significant inhibitory effect. The salidroside group (150 nmol/L salidroside) was performed to do the subsequent experiment. The invasion number of PC-3M cells in the control group and the salidroside group were (80±11) and (36±13), respectively ( t = 5.15, P < 0.05). GEPIA database online analysis showed that the expression of LINC01207 in prostate cancer tissues was higher than that in paracancerous tissues ( P < 0.01). qRT-PCR results showed that the relative expression level of LINC01207 in PC-3M cells of the control group and the salidroside group was (6.2±1.1) and (1.2±0.7), respectively; and the expression of LINC01207 in PC-3M cells of the salidroside group was lower than that of the control group ( t = 7.88, P < 0.01). The relative expression level of miRNA-1182 was (1.00±0.20) and (7.02±0.35), respectively; the expression of miRNA-1182 in PC-3M cells of the salidroside group was higher than that of the control group ( t = 30.07, P < 0.01). Western blot results showed that after PC-3M cells were treated with salidroside, the expressions of cell proliferation proteins CDK2 and cyclin E decreased; the expressions of cell invasion proteins CD147, matrix metalloproteinases (MMP)-2, MMP-9 decreased. Conclusions:Salidroside inhibits prostate cancer PC-3M cell proliferation and invasion by downregulating LINC01207 expression and activating miRNA-1182 expression.

Objective:To explore the effect of miR-1249-5p on the proliferation, metastasis and cell cycle of PC-3 cell in prostate cancer.Methods:The relationship between the expression level of miR-1249-5p and the overall survival of prostate cancer patients was analyzed using OncoMir Cancer Database (OMCD). The human prostate cancer cell line PC-3 was divided into two groups: miR-1249-5p group and negative control group. Mediated by Lipofectamine 2000, miR-1249-5p mimics liposome complex or negative miRNA liposome complex were transfected into PC-3 cell at logarithmic growth stage. Real-time quantitative polymerase chain reaction (RT-qPCR) was used to detect the expression of miR-1249-5p in PC-3 cell of two groups. Colony formation assay was used to detect the changes of the proliferation ability of PC-3 cell in the two groups. Transwell experiment was used to detect the changes of PC-3 cell invasion in the two groups, and the cell cycle changes of the two groups of PC-3 were detected by flow cytometry. The miRNA prediction software miRGator was used to predict the target gene of miR-1249-5p. RT-qPCR and Western blotting were used to detect the target gene expression of miR-1249-5p. Measurement data were expressed as mean±standard deviation ( ± s), and t-test was used for comparison between two groups. Results:Compared with prostate cancer patients with low miR-1249-5p expression, prostate cancer patients with higher miR-1249-5p expression had longer overall survival, and the difference was statistically significant ( P<0.01). The expression level of miR-1249-5p in the miR-1249-5p group (10.74±1.19) was significantly higher than that of the negative control group (1.56±0.27), the difference was statistically significant ( P<0.01). The number of colonies formed in the miR-1249-5p group (35.86±6.94) was significantly less than that in the negative control group (88.94±11.66), and the difference was statistically significant ( P<0.01). The number of transmembrane cells [(25.01±6.83)/high power field of view] in the miR-1249-5p group was significantly less than that of the negative control group [(82.76±8.35)/high power field of view], and the difference was statistically significant ( P<0.01). The proportion of cells in the G 0-G 1 phase in the miR-1249-5p group [(50.79±6.61)%] was significantly higher than that in the negative control group [(27.09±2.30)%], the difference was statistically significant ( P<0.01), and PC-3 cell were inhibited in the G 0-G 1 phase. Neural precursor cell expressed developmentally down-regulated 9 ( NEDD9) may be the target gene of miR-1249-5p. Compared with the negative control group, the NEDD9 gene expression in the miR-1249-5p group was significantly lower than that of the negative control group, the difference was statistically significant ( P<0.01). Conclusion:miR-1249-5p can inhibit the proliferation, metastasis and cell cycle of PC-3 cell in prostate cancer, which may be achieved by negatively regulating the expression of proto-oncogene NEDD9.

Speech feature learning is the core and key of speech recognition method for mental illness. Deep feature learning can automatically extract speech features, but it is limited by the problem of small samples. Traditional feature extraction (original features) can avoid the impact of small samples, but it relies heavily on experience and is poorly adaptive. To solve this problem, this paper proposes a deep embedded hybrid feature sparse stack autoencoder manifold ensemble algorithm. Firstly, based on the prior knowledge, the psychotic speech features are extracted, and the original features are constructed. Secondly, the original features are embedded in the sparse stack autoencoder (deep network), and the output of the hidden layer is filtered to enhance the complementarity between the deep features and the original features. Third, the L1 regularization feature selection mechanism is designed to compress the dimensions of the mixed feature set composed of deep features and original features. Finally, a weighted local preserving projection algorithm and an ensemble learning mechanism are designed, and a manifold projection classifier ensemble model is constructed, which further improves the classification stability of feature fusion under small samples. In addition, this paper designs a medium-to-large-scale psychotic speech collection program for the first time, collects and constructs a large-scale Chinese psychotic speech database for the verification of psychotic speech recognition algorithms. The experimental results show that the main innovation of the algorithm is effective, and the classification accuracy is better than other representative algorithms, and the maximum improvement is 3.3%. In conclusion, this paper proposes a new method of psychotic speech recognition based on embedded mixed sparse stack autoencoder and manifold ensemble, which effectively improves the recognition rate of psychotic speech.
Algorithms ; Databases, Factual ; Humans ; Psychotic Disorders ; Speech ; Speech Perception

Objective To analyze clinical characteristics and gene mutation of two patients diagnosed with P450 oxidoreductase deficiency(PORD). Methods Clinical data of 2 patients with PORD was collected from Ruijin hospital. POR gene mutation was analyzed by PCR-Sanger sequencing. A retrospective analysis of literatures concerning PORD was performed. Results Patient 1, female, 16 years old, with 46,XX karyotype, presented with anorectal anomalies, clitoral hypertrophy at birth and irregular menstruation; Patient 2, female, 32 years old, with 46,XX karyotype, showed irregular menstruation and infertility, both without obvious skeletal deformity. Genetic test of POR gene mutation revealed that patient 1 carried a homozygous missense mutation (R457H) and patient 2 carried a heterozygous mutation (R223X/ Y607C). The two mutations (R223X and Y607C) are reported for the first time in China. Conclusion P450 oxidoreductase deficiency which caused by mutations in POR gene has a variety of clinical manifestations, including abnormal steroid hormone synthesis with or without Antley-Bixler syndrome. The affirmative diagnosis should rely on steroid hormone measurement and POR gene analysis.

To improve the recognition and treatment of the combination of classical congenital adrenal hyperplasia (CAH) and Turner's syndrome. A case of 21-hydroxylase deficiency (21-OHD) in 45,X[3] / 46,XX [47] was reported,and the related literatures were reviewed. A 29-year-old woman with 45,X[3] / 46,XX[47] was referred with clitorimegaly and primary amenorrhea. Her height was 150 cm with a weight of 56 kg. Physical examination revealed a Tanner stage Ⅵ for both breast development and pubic hair development. She showed a little signs of Turner' s syndrome, such as cubitus valgus. Lab findings: sex hormones are significantly increased, including progesterone, testosterone, dehydroepiandrosterone, 17 hydroxyprogesterone, dihydrotestosterone, and androstendione. Enhanced CT scan showed bilateral adrenal hyperplasia. Gynecological ultrasound showed that the size of the uterus and ovary were near normal and the endometrium was not clear. By gene mutation screening, two mutation sites were found in CYP21A2 gene, such as IVS2-13C/ A→G and p. Ile173Asn( c. 518T→A). Taken together, the patient was diagnosed as a combination of 21-OHD and Turner syndrome. A total of ten patients associated with CAH in Turner's syndrome have been reported so far. The findings showed that routine karyotyping during investigations of patients presenting with ambiguous genitalia or with a diagnosis of CAH may reveal the concomitant presence of Turner's syndrome. We should make a definite diagnosis and give early treatment as soon as possible.

BACKGROUND: Hepatocyte/polymer interface with good biocompatibility is the key factor in bioreactor design andconstruction, however, bioreactor used in the clinical practice currently is not an ideal one.OBJECTIVE: To establish human hepatocyte compatible polypropylene interface and to lay a foundation for establishingbioartificial liver reactor with polypropylene hollow fiber.DESIGN, TIME AND SETTING: The comparative observation, cell compatibility experiment was performed betweenFebruary and October 2003 at Shanghai Jiao Tong University, Shanghai, China.MATERIALS: Polypropylene Photochemical graft polymerization modification technique was used to graft hydrophilicacrylamide groups on the surface of polypropylene membrane by chemical bonds to form modified polypropylenemembrane.METHODS: L02 human hepatoeytes were seeded on polypropylene membrane, modified polypropylene membrane andpolystyrene membrane, and polystyrene membrane was used as normal control.MAIN OUTCOME MEASURES: Static water contact angle of polypropylene membrane before and after graftmodification; morphology, adherent rate and proliferation activity of L02 human hepatocytes on different material surfaces.RESULTS: Static water contact angle after polypropylene membrane graft modification was smaller than that before graftmodification (P < 0.05). The adherent rate of L02 human hepatocytes on the surface of modified polypropylene membranewas 0, and the proliferation activity of them, which grew as spherical aggregates, was markedly higher than that of cells onpolystyrene membrane and polypropylene membrane without graft modification.CONCLUSION: Grafting polyacrylamide on the surface of polypropylene can establish good interface of L02 humanhepatocytes/polypropylene and form hepatocyte spherical aggregates through simple static culture.

Objective:To investigate the internet game addiction disorder and influential factors in the middle school students of Guangzhou.Methods:A total of 900 middle school students of Guangzhou selected by cluster sampling were investigated with unified questionnaires.Results:Of the middle school students tested,4.9%were diagnosed internet game addiction.There were remarkable differences of the addiction to network game in demography variable,such as age, educational background of father and family economic situation.Between online game addicts and non-addicts,there were significant discrepancies in social support,subjective support,use of support,self-identity,self investment today,and parent-child conflict.Gender,subjective support,parent-child conflict,self investment now,educational background of father and family economic situation entered the regression model.Conclusion:Internet game addiction is closely associated with social support,parent-child relationship,and self-identity.