Objective:To explore the feasibility of extracting the key plane of the normal fetal palate on the 11-13 + 6 week from tomography ultrasonography imaging based on artificial intelligence. Methods:The fetal volume datas of 235 cases of 11-13 + 6 week normal fetal were collected from the Department of Ultrasound in the Luohu District People′s Hospital of Shenzhen and Huazhong University of Science and Technology Union Shenzhen Hospital from May 2020 to April 2021. The data acquisition was completed by sonographers A and B by using the GE Voluson E10 color Doppler ultrasound diagnostic instrument. All datas were marked offline by sonographer C. Tomographic imaging was performed on all included data by sonographer D, the tomographic images were saved and the time-consuming was recorded, and the datas of the sonographer group were obtained. The labeled data were randomly divided into the training set and test set for model transfer learning and testing.The 4-fold cross-validation was adopted to record the test set image output by the model and the time consumption to obtain the intelligent group data. A senior sonographer performed image analysis on the two groups of data images. The feasibility of the intelligent model was verified by comparing the score of the plane of retronasal triangle(RTP), the acquisition rate of RTP, the acquisition rate of the fault, and the time-consuming difference between the sonographer group and the intelligent group. Results:①There was no significant difference in the overall distribution of RTP scores between the sonographer group and intelligent group [5 (5, 6) points vs 5 (5, 6) points, Z=0.355, P=0.722]. The RTP acquisition rate of the sonographer group and intelligent group was not statistically significant (78.72% vs 76.60%, χ 2=0.55, P=0.458). The consistency and correlation of RTP obtained by the two groups were high (Kappa=0.645, φ=0.646, both P<0.001). ②The effective layers of the sonographer group were 9 (8, 9) and the intelligent group was 8 (7, 9). The fault acquisition rate of the doctor group was higher than that of the intelligent group (78.72% vs 68.51%, χ 2=12.52, P=0.001). The consistency and correlation of the two groups in obtaining faults were media (Kappa=0.503, φ=0.521, both P<0.001). ③The time-consuming of the intelligent group was significantly lower than that of the sonographer group [1.50 (1.23, 1.75)s vs 26.94 (22.28, 30.48)s, Z=11.440, P<0.001]. Conclusions:This research model can quickly and accurately realize the extraction and tomography of the key plane of the normal fetal palate on the 11-13 + 6 week.

Congenital disorder of glycosylation (CDG) is a group of genetic metabolic diseases involving multiple organs. A case of CDG caused by SLC35A2 gene mutation was diagnosed. The clinical characteristics included spasms, developmental retardation and multiple malformations. Video-electroencephalogram showed dysrhythmia. A de novo heterozygous missense mutation of SLC35A2 gene was detected by whole exome sequencing: c.844G>A (p.Gly282Arg). It was predicted to be likely pathogenic according to American College of Medical Genetics and Genomics guidelines which had not been reported in China.

OBJECTIVE: To analyze the clinical characteristics and genetic basis of two children patients with CHARGE syndrome. METHODS: The clinical features of the two patients were analyzed, and potential variants were detected by Trio whole exome sequencing (trio-WES) of the probands and their parents. RESULTS: Child 1 has manifested cerebellar vermis dysplasia, enlargement of cerebral ventricles, whereas child 2 manifested with infantile spasm and congenital hip dysplasia. Both children were found to harbor de novo heterozygous variants of the CHD7 gene, namely c.4015C>T (exon 17) and c.5050G>A (exon 22). Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were rated as pathogenic variants, and the related disease was CHARGE syndrome. Furthermore, child 2 was also found to harbor a novel heterozygous c.6161A>C (p.Gln2054Pro) missense variant of COL12A1 gene, which was rated as possibly pathogenic, and the associated disease was Bethlem myopathy type 2, which is partially matched with the patient' s clinical phenotype. CONCLUSION The special clinical phenotypes shown by the two children harboring novel CHD7 variants have further expanded the phenotypic spectrum of CHARGE syndrome.
CHARGE Syndrome/genetics* ; DNA Helicases/genetics* ; DNA-Binding Proteins/genetics* ; Genetic Testing ; Heterozygote ; Humans ; Mutation ; Phenotype ; Whole Exome Sequencing

ObjectiveTo study the mechanism of Mahuang Xixin Fuzitang （MXFT） against migraine. MethodTraditional Chinese Medicine Systems Pharmacology Database and Analysis Platform （TCMSP）， SiwssTargetPrediction and other databases were used to screen the active components and action targets of MXFT as well as migraine-related targets. The potential protein-protein interaction （PPI） network diagram was plotted for the intersection targets of MXFT and migraine using STRING 11.5. Metascape was used for Gene Ontology （GO） and Kyoto Encyclopedia of Genes and Genomes （KEGG） enrichment analysis of potential intersection targets. The component-target-pathway network of MXFT was constructed by Cytoscape 3.7.1 to screen core targets with high degree value. Finally， the binding strength between core target and its mapping components was verified by molecular docking， and the core targets with desirable docking results were verified by animal experiments in vivo. Forty eight SD rats were selected， and except the blank group， the other rats were subcutaneously injected with nitroglycerin to prepare the migraine rat model. The modeled rats were randomly divided into model group， positive drug group and MXFT high-， medium- and low-dose groups. The positive drug group was given zolmitriptan tablets， and the MXFT high-， medium- and low-dose groups were given high， medium and low doses of MXFT， respectively. The changes of behavior and pain threshold of rats in each group were observed every other day after modeling. The levels of calcitonin gene-related peptide （CGRP）， extracellular signal-regulated kinase 2 （ERK2） and c-fos proto-oncogene （FOS） protein in plasma were detected by enzyme-linked immunosorbent assay （ELISA）. Immunohistochemical technique and Western blot were employed to determine the levels of extracellular signal-regulated kinase 1/2 （ERK1/2， also known as MAPK1/3） and protein kinase B 1 （Akt1）， protein kinase C α （PRKCA） in trigeminal nerve of SD rats. ResultThe network pharmacology showed that the core targets of MXFT in the treatment of migraine were MAPK1， MAPK3， Akt1， PRKCA， etc.， mainly involving neuroactive ligand-receptor interaction signaling pathway， calcium signaling pathway， MAPK signaling pathway， etc. The molecular docking demonstrated that MAPK1， MAPK3， Akt1， PRKCA， PRKCB and PRKCG had good binding ability with their mapping components. The animal experiments indicated that compared with the conditions in the blank group， the number of head scratching in the model group was increased （P<0.01）， and the pain threshold was decreased （P<0.01）. Compared with the conditions in the model group， the number of head scratching in each administration group was reduced （P<0.01）， and the pain threshold was increased （P<0.01）. In addition， the levels of CGRP， ERK2 and FOS proteins in plasma， and Akt1， ERK1/2 and PRKCA proteins in trigeminal ganglion of the model group were higher than those of the blank group （P<0.05， P<0.01）. The levels of CGRP， ERK2 and FOS proteins in plasma and Akt1， ERK1/2 and PRKCA proteins in trigeminal ganglion of each administration group were lower than those of the model group （P<0.05， P<0.01）. ConclusionMXFT had multi-component， multi-target and multi-pathway characteristics in the treatment of migraine， and the mechanism might be related to inhibiting vasodilation， reducing the release of inflammatory factors and inhibiting neuronal hyperactivity.

Objective:To investigate the effects of long non-coding RNA (lncRNA) FBXL19-AS1 on the proliferation, migration and invasion of pancreatic cancer cells, and to determine the targeting relationship of lncRNA FBXL19-AS1 and microRNA-339-3p (miR-339-3p).Methods:From January 2017 to August 2019, 73 cancer tissues and matched normal pancreatic tissues adjacent to cancer from patients pathologically diagnosed as pancreatic cancer who underwent surgical resection in Yantai Hospital of Yantai were collected. Normal pancreatic epithelial cells (hTERT-HPNE) and 3 pancreatic cancer cell lines (Capan-1, SW1990, PaTu8988) were cultured in vitro. The real-time fluorescent quantitative PCR was used to detect the expression of lncRNA FBXL19-AS1 and miR-339-3p in pancreatic cancer tissues and cell lines. The Capan-1 cells were divided into the NC group (normal control group), si-NC group (transfected with meaningless negative sequence), si-FBXL19-AS1 group (transfected with FBXL19-AS1 small interfering RNA), miR-NC group (transfected with empty plasmid control), miR-339-3p group (transfected with miR-339-3p overexpression lentiviral vector), si-FBXL19-AS1+ anti-miR-339-3p NC group (cotransfected with FBXL19-AS1siRNA and miR-339-3p inhibitor negative control sequence) and si-FBXL19-AS1+ anti-miR-339-3p group (cotransfected with FBXL19-AS1siRNA and miR-339-3p inhibitor). CCK-8 method was used to detect cell proliferation activity. Transwell chamber was used to detect cell migration and invasion ability, and western blotting method was used to detect cell cyclinD1, matrix metalloproteinase 2 (MMP2) and MMP9 protein expression. Bioinformatics and dual luciferase reporter gene experiments were used to analyze the targeting relationship between lncRNA FBXL19-AS1 and miR-339-3p.Results:The expression of lncRNA FBXL19-AS1 in pancreatic cancer tissue was significantly higher than that in normal pancreatic tissue adjacent to cancer (2.96±0.21 vs 1.00±0.13, P<0.05), and the expression of miR-339-3p was significantly lower than that in normal pancreatic tissue adjacent to cancer (0.37±0.05 vs 1.00±0.11, P<0.05). The expression of lncRNA FBXL19-AS1 in Capan-1, SW1990 and PaTu8988 cells were 2.43±0.18, 1.97±0.13 and 1.73±0.14, respectively, which were significantly higher than that of hTERT-HPNE cells 1.00±0.07. The expression of miR-339-3p were 0.42±0.03, 0.54±0.03 and 0.57±0.04, respectively, which were all significantly lower than 1.00±0.05 of hTERT-HPNE cells. Among them, the expression of lncRNA FBXL 19-AS1 in Capan-1 cells was the highest, and the miR-339-3p was the lowest. Compared with the si-NC group, the absorbance value ( A450) of Capan-1 cells in the si-FBXL19-AS1 group, the number of migrating cells, and the number of transmembrane cells were significantly decreased (0.47±0.03 vs 0.94±0.06, 81.00±7.41 vs 187.00±16.13, 67.00±5.41 vs 141.00±9.24), the protein expression of cyclinD1, MMP2 and MMP9 was significantly reduced (0.44±0.03 vs 0.83±0.05, 0.48±0.03 vs 0.92±0.07, 0.38±0.02 vs 0.73±0.05). Compared with the miR-NC group, the A450, the number of migrating cells, and the number of transmembrane cells of Capan-1 cells in the miR-339-3p group were significantly decreased (0.54±0.04 vs 0.94±0.05, 98.00±6.53 vs 193.00±10.02, 83.00±6.58 vs 146.00±7.11, the protein expression of cyclinD1, MMP2 and MMP9 was significantly reduced (0.47±0.03 vs 0.81±0.07, 0.43±0.03 vs 0.94±0.06, 0.32±0.02 vs 0.71±0.06). Compared with the si-FBXL19-AS1+ anti-miR-NC group, the A450, the number of migrating cells and the number of transmembrane cells in the si-FBXL19-AS1+ anti-miR-339-3p group increased significantly (0.96±0.07 vs 0.48±0.03, 204.00±11.25 vs 83.00±5.11, 157.00±8.76 vs 64.00±4.12, P all <0.05), the protein expression of cyclinD1, MMP2 and MMP9 increased significantly (0.84±0.06 vs 0.42±0.03, 0.96±0.08 vs 0.47±0.08, 0.74±0.06 vs 0.37±0.02, P all <0.05). The luciferase activity of Capan-1 cells cotransfected with WT-FBXL19-AS1 and miR-339-3p mimics was significantly lower than that of the cotransfected with WT-FBXL19-AS1 and miR-NC (0.47±0.04 vs 1.00±0.10, P all <0.05). The difference of the luciferase of Capan-1 cells in the cotransfected MUT-FBXL19-AS1 and miR-339-3p mimics group and the cotransfected MUT-FBXL19-AS1 and miR-NC group was not statistically significant. Conclusions:LncRNA FBXL19-AS1 was highly expressed in pancreatic cancer tissues and Capan-1 pancreatic cancer cell lines. Knockdown of lncRNA FBXL19-AS1 can target miR-339-3p to regulate the proliferation, migration and invasion of pancreatic cancer cells, and promote the occurrence and development of pancreatic cancer.

Objective:To investigate the pathogen distribution and antimicrobial resistance among lower respiratory tract infections in patients with hematological malignancies.Methods:Sputum samples were collected from 967 patients with hematological malignancies and lower respiratory tract infections in Department of Hematology,the Second Hospital of Shanxi Medical University from January 2017 to July 2020. The pathogens and drug sensitivity reports were carried out by automatic bacterial identification instruments. WHONET 5.6 and SPSS 20.0 softwares were used for statistical analysis.Results:A total of 961 strains of pathogens were isolated, 516 (53.7%) pathogens were Gram-negative bacteria, mainly 118 strains of Klebsiella pneumonia (12.3%), 68 strains of Pseudomonas aeruginosa (7.1%), 67 strains of Acinetobacter baumannii (7.0%),52 strains of Stenotrophomonas maltophilia (5.4%), 43 strains of Escherichia coli (4.5%), and 42 strains of Enterbacter cloacae (4.4%). There were 171 (17.8%) strains of Gram-positive bacteria and 274 (28.5%) fungi. The drug resistance rates of Pseudomonas aeruginosa and Acinetobacter baumannii to carbapenem were 22.1%-31.3%. Stenotrophomonas maltophilia was sensitive to levofloxacin, compound sulfamethoxazole and minocycline. The antimicrobial resistance rates of these three enterobacteria to carbapenems, cefoperazone/sulbactam, piperacillin/tazobactam were low (<10%). The resistant Gram-positive bacteria to ticoplanin, vancomycin and linazolamide were not detected.Conclusion:The major pathogens related to lower respiratory tract infections in patients with hematological malignancies are gram-negative bacteria in our centre. Different pathogens appear different characteristics of antimicrobial resistance.

Objective The implementation and prospect of excellent young scientists fund in the department of health sciences of national natural science of foundation of china were reviewed and discussed to propose suggestions for future development.Methods The applications and grants of excellent young scientists fund in health sciences field from 2012 to 2017 wereanalyzed among different medical branches,regions and supporting institutions.The age,gender,title and academic rank of both applicants and awardees were analyzed.Results The applications and grants of excellent young scientists fund vary greatly in the different branches of medical science,as well as in the different regions and supporting institutions.The person in charge of such projects has been better developed after being awarded.Conclusions The establishment and implementation of the excellent young scientists fund has promoted the growth of young medical scientists.

OBJECTIVE To study the impacts of different noise patterns on speech perception in normal hearing subjects and patients with sensorineural hearing loss. METHODS Mandarin Hearing in Noise Test for Children was played by MATLAB software in this study. The speech intelligibility of 25 normal hearing subjects and 20 patients with sensorineural hearing loss in quiet, speech-shaped noise and two-talker babbles were tested. The differences between normal hearing subjects and patients with sensorineural hearing loss in quiet and noise conditions were analyzed. RESULTS With the decrease of signal-to-noise ratios, the speech intelligibility of normal hearing subjects in speech-shaped noise pattern was declining more severely compared with the two-talker babbles pattern but there were no significant differences between them (P＞0.05). There were significant statistical differences in speech intelligibility under quiet, speech-shaped noise and two-talker babbles at 5 dB SNR (^＜0.05) for patients with sensorineural hearing loss. And the speech recognition rate in speech-shaped noise decreased more remarkable than that in the two-talker babbles. CONCLUSION Compared two noise patterns, the accuracy of speech recognition for normal hearing subjects in two-talker babbles was higher, while the speech intelligibility was better for patients with sensorineural hearing loss in speech-shaped noise.

OBJECTIVE To determine speech perception,tone perception and the subjective preferences of mandarin-speaking adults who received the fine structure processing(FSP) coding strategy,at upgrade from the continuous interleaved sampling(CIS+) coding strategy.METHODS Thirteen mandarin-speaking subjects were tested at switch-over from CIS+ to FSP coding strategy approximately 1-,2-,and 3-month after switch-over with the mandarin hearing in noise test(M-HINT),the mandarin tone identification in noise test(M-TINT),and a visual analogue scale assessing sound and speech assessment(SSA).RESULTS Tone perception improved significantly over time with the FSP coding strategy.There were no significant differences in the MHINT over time,nor when compared to the CIS+ coding strategy.Subjects rated the FSP coding strategy with the OPUS 2 as significantly more "full" and "rich" than with the CIS+ coding strategy after 3-months.CONCLUSION Mandarin-speaking adults can use the FSP coding strategy as well as CIS+ coding strategy.Loss in performance was not observed after switch-over.Tone identification improves over time with the FSP coding strategy,which is beneficial to tonal-language users.

Objective To investigate the relationship between peripheral blood mtDNA content and acute coronary syndrome. Methods A total of 244 patients who received coronary angiography(CAG)was enrolled in this study. They were divided into acute coronary syndrome(ACS)group(n=183)and control group(n=61)ac-cording to the CAG results. A quantitative real-time PCR-based method was used to measure relative content of mtDNA in peripheral blood. According to lesion blood vessel counts ,ACS patients were divided into single lesion group,double lesion group and three lesions group. Gensini score was used to quantitatively evaluate the severity of coronary stenotic lesions. Then we analyzed the relationship of mitochondrial DNA content with the lesion counts and the Gensini score. Results The ACS group had a lower mtDNA content ,as compared to controls (P <0.001).The lesion blood vessel count and mtDNA content in the single ,double and three vascular lesions group were all significanlty lower than that of the control group(P<0.05)and that of the double,three vascular lesions group were both significantly lower than that of the single vascular lesion group(P<0.05). According to the Gensi-ni score,all patients were divided into four groups,where with mtDNA content was decreased with the increase of the Gensini score(P < 0.01). The linear regression analysis showed that Gensini score was negatively correlated with mtDNA content(r=-0.644,P<0.001). ROC curve analysis showed that the area under the curve of mtDNA content for ACS diagnosis was 0.855(P<0.001),with the sensitivity and specificity of 0.756 and 0.833,respec-tively. Conclusion MtDNA content is closely associated with ACS and the Gensini score ,the latter indicating the severity of coronary stenotic lesions. MtDNA content detection has its value in the diagnosis of ACS.