Objective:To compare the results of invasive prenatal diagnosis and preimplantation genetic testing (PGT) and explore the underlying mechanism.Methods:Clinical data of pregnant women undergoing PGT and invasive prenatal diagnosis at the Sixth Affiliated Hospital of Sun Yat-sen University from January 2019 to December 2022 were collected. The results of PGT and invasive prenatal diagnosis were compared, and the outcomes of pregnancies were followed up. This study has been approved by the Medical Ethics Committee of the the Sixth Affiliated Hospital of Sun Yat-sen University (No. 2022SLYEC-491).Results:A total of 172 couples were included in this study, and 26 non-targeted variants were discovered upon prenatal diagnosis, including 10 cases (38.5%) by chromosomal karyotyping, 15 (57.7%) by chromosomal microarray analysis (CMA), and 1 (3.8%) by whole exome sequencing. The 10 karyotypic anomalies had included 6 chromosomal polymorphisms, 2 chromosomal mosaicisms, 1 paternally derived translocation, and 1 missed maternal chromosomal inversion. CMA has identified 15 copy number variations (CNVs), which included 11 microdeletions and microduplications, 3 loss of heterozygosity, and 1 low-level mosaicism of paternal uniparental disomy. One CNV was classified as pathogenic, and another one was likely pathogenic, whilst the remaining 13 were classified as variants of uncertain significance. Therefore, 8.7% of CNVs was detected by invasive prenatal diagnosis after PGT. 92.3% (24/26) of the non-targeted variants have been due to technological limitations of next-generation sequencing (NGS).Conclusion:Invasive prenatal diagnosis after PGT can detect non-targeted variants, which may further reduce the incidence of birth defects.

Objective:To analyze the clinically acceptable and reproducible bladder and rectum volumes of prostate cancer patients during radiotherapy under bladder and bowel preparation, aiming to provide quantitative indicators for bowel and bladder preparation before and after radiotherapy.Methods:Clinical data of 275 prostate cancer patients with strict bladder and bowel preparation and completion of whole course radical radiotherapy at Sun Yat-sen University Cancer Center from April 2015 to December 2020 were retrospectively analyzed. Patients were scanned with cone beam CT (CBCT) before each treatment and the setup error was recorded. Sixty-six patients were selected by simple random sampling and the bladder and rectum on daily CBCT was outlined using MIM software. The relationship between the ratio of daily bladder or rectum volume to the planned bladder or rectum volume (relative value of volume) and setup error was analyzed. Quantitative data were expressed as mean±SD. Normally distributed data were analyzed by paired t-test while non-normally distributed data were assessed by Kruskal-Wallis test.Results:The bladder and rectum volume on planning CT were (370.87±110.04) ml and (59.94±25.07) ml of 275 patients. The bladder and rectum volumes on planning CT were (357.51±107.38) ml and (65.28±35.37) ml respectively of the 66 selected patients with 1611 sets of CBCT images. And the bladder and rectum volumes on daily CBCT were (258.96±120.23) ml and (59.95 ± 30.40) ml. The bladder volume of patients was decreased by 3.59 ml per day on average during the treatment and 0.37 ml for the rectum volume. According to the bladder volume on planning CT, all patients were divided into three groups: <250 ml, 250-450 ml and >450 ml groups. The relative value of volume in the 250-450 ml group during the course of radiotherapy was the smallest. And the setup error in the superior and inferior (SI) direction was (0.28±0.24) cm and (0.19±0.17) cm in the left and right (LR) direction, significantly lower than those in the other two groups (both P≤0.027). According to the rectum volume on planning CT, all patients were divided into four groups: <50 ml, 50-<80 ml, 80-120 ml and >120 ml groups. The <50 ml group had the smallest relative value of volume during radiotherapy, and the setup error in the SI direction was (0.26±0.22) cm and (0.24±0.22) cm in the anterior and posterior (AP) direction, significantly smaller than those in the other groups (both P≤0.003). The setup errors in the SI, LR, AP directions of the enrolled 66 patients were (0.30±0.25) cm, (0.20±0.18) cm and (0.28±0.27) cm, respectively. Among them, the relative value of bladder volume in the AP direction was (0.73±0.37) in the setup error <0.3 cm group, which was statistically different from those in the setup error 0.3-0.5 cm and >0.5 cm groups (both P<0.05). Conclusion:Under the bladder and bowel preparation before planning CT, the appropriate bladder and rectum volumes are in the range of 250-450 ml and <50 ml, which yields higher reproducibility and smaller setup error.

Objective:To understand the results of blind evaluation of dissertation of three-year doctors and eight-year medical doctors, and to explore the improvement measures of eight-year program education.Methods:The data analysis method was manipulated. A total of 47 eight-year doctoral and 88 three-year doctoral dissertations submitted by the first clinical college of Huazhong University of Science and Technology in 2020 were selected as the research material. SPSS 17.0 was used to perform Chi-square test to compare the itemized evaluation opinions of the dissertation, Spearman test was used to analyze the correlation between the defense opinions, itemized evaluation opinions and the overall evaluation.Results:The gap between eight-year and three-year doctoral dissertation is mainly manifested in innovation and research value ( χ2=9.10, P=0.003), topic and review ( χ2=5.70, P=0.017), while there is no significant difference in the overall assessment and oral defense suggestion. The main influencing factor of dissertation defense suggestion for both doctors was the dissertation standardization (eight-year: r s=0.53, P<0.001; three-year: r s=0.45, P<0.001). The evaluation results of eight-year doctor dissertation were closely related to basic knowledge and scientific research ability ( r s=0.74, P<0.001). Conclusion:There is no significant difference between eight-year doctors and full-time doctors in research attitude. But there was a certain gap in scientific research and innovation ability among them. It is suggested to clarify the teaching objectives, formulate and refine the evaluation system of dissertations, and strengthen the cultivation of scientific research interest and academic belief of eight-year study program.

Objective:To identify the molecular mechanisms of the effects of the Buyin Qianzheng formula (BYQZF)on the mitochondrial dynamics in a Parkin overexpression Parkinson's disease (PD) cell model.Methods:First,a stable Parkin overexpression cell model was constructed using plasmid transfection.Then,we examined the protective effect of BYQZF on the mitochondrial dysfunction of the Parkin overexpression PD cell model induced by neurotoxin 1-methyl-4-phenylpyridinium ion (MPP+).The mRNA expression level of Parkin was evaluated using real-time quantitative PCR.The cell survival rate was detected using the Cell Counting Kit-8 assay.We evaluated the cellular adenosine triphosphate (ATP)levels using luciferase assays.A laser scanning confocal microscope was used to observe the mito-chondrial morphology,activity,and mitochondrial membrane potential (ΔΨm).Western blot was con-ducted to evaluate the levels of the fusion proteins mitofusin1,mitofusin2,optic atrophy 1,dynamin-related protein 1,and mitochondrial fission protein 1.Results:Parkin overexpression attenuated MPP+-induced mitochondrial damage,increased mitochon-drial activity and AΨm.BYQZF increased the survival of MPP+-induced cells that overexpressed Parkin and upregulated the mitochondrial form factor and activity.It also inhibited a decrease in the ΔΨm and ATP levels.These findings suggested that BYQZF protected against MPP+-induced mitochondrial dysfunction and enhanced the protective effect of Parkin overexpression.Furthermore,the formula upregulated the expression of the fusion proteins mitofusin1,mitofusin2,and optic atrophy 1 (closely related to mitochondrial quality remodeling),and reduced the expression of the fission protein dynamic-related protein 1,as well as mitochondrial fission protein 1.Conclusion:The mechanism by which BYQZF increased the mitochondrial protective effect of Parkin gene overexpression in MPP+-induced cells may be related to improving mitochondrial function and regulating the balance of mitochondrial division and fusion proteins.

Objective:To investigate the effect of conventional coronary CT angiography (CCTA) bolus injection of contrast agent on the diameter and angle of the left main coronary artery (LMA) bifurcation area, and to provide a basis for the application of CCTA to accurately measure the coronary artery.Methods:In Cangzhou Central Hospital of Hebei Province from January to December 2020, the clinical data of 54 patients with suspected coronary heart disease who underwent coronary artery calcification score (CACS) and CCTA with conventional bolus injection of contrast agent were retrospectively analyzed. Two physicians measured middle lumen diameter of LMA (d1), proximal lumen diameter of left anterior descending (LAD) (d2), proximal lumen diameter of left circumflex (LCX) (d3) and bifurcation angle between LAD and LCX (∠1). The consistency of 2 physicians was compared, and the results of CACS and CCTA were compared.Results:The consistency analysis result showed that only d3 measured by CCTA had a moderate consistency (intra-group correlation coefficient = 0.717), and the remaining indexes were in good agreement (intra-group correlation coefficient >0.75). There were no statistical differences in indexes measured results between CACS and CCTA ( P>0.05). According to the degree of left coronary artery stenosis, 54 patients were divided into 2 groups: LMA and branches normal or stenosis degree < 50% group (25 cases) and LMA and branches 1 or more branches stenosis degree≥50% group (29 cases). There were no statistical differences in indexes measured results between CACS and CCTA in patients with different disease severity ( P>0.05). Conclusions:In the CCTA examination, the conventional bolus injection of contrast agent does not affect the diameter and angle of the lumen of the LMA bifurcation area of the coronary artery.

Objective:To explore disorienting dilemmas during postgraduate study period experienced by postgraduates with master of nursing specialist who participated in the national postgraduate entrance examination and provide a basis for teaching reform based on transformative learning theory.Methods:Using the purposive sampling method and the maximum difference method, 23 full-time masters of nursing specialist who participated in the national postgraduate entrance examination from 3 universities of Jiangsu Province were selected as the research objects from March to June 2019. The descriptive qualitative research method was used to conduct semi-structured interviews, and the traditional content analysis method was used to analyze the interview data.Results:Four themes of disorienting dilemmas of masters of nursing specialist were extracted: the expected hypothesis of challenges of new environment in course learning, a gap between scientific research ability and training target, adjustment of self-positioning in clinical practice and insufficient preparations for graduation of master of nursing specialist.Conclusions:Master of nursing specialist have disorienting dilemmas in course study, scientific research, clinical practice and graduation preparation, and nursing educators can use this as a trigger point to carry out teaching reform based on transformative learning theory.

At present, diabetes mellitus has become an increasingly serious disease which affects public health in the word. Clinical treatment of diabetes is mainly based on oral hypoglycemic drugs, insulin injections and lifestyle interventions (diet and exercise) . The new intervention method targeting intestinal microflora opens up new ideas for diabetes treatment. This article reviews the application of new intestinal microbial therapy (probiotic treatment, oral prebiotics/synbiotics, fecal microbiota transplantation) and treatment by regulating intestinal microflora (bariatric surgery, antibiotic therapy and traditional Chinese medicine) in diabetes. This article also summarized the nursing intervention based on intestinal microbial therapy so as to improve the understanding of the relationship between intestinal microflora and diabetes, and provide a reference for treatment and nursing care for type 2 diabetes.

OBJECTIVES: To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. METHODS: Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling and parents respectively. To predict and visualize the potential functional outcome of the novel variant, model building, structure analysis, and in silico analysis were further conducted. RESULTS: The results showed that the proband from family I harbored a compound heterozygote of SLC26A4 c.1174A>T (p.N392Y) mutation and c.1181delTCT (p.F394del) variant in exon 10, potentially altering Pendrin protein structure. In family II, the proband was identified in compound heterozygosity with a known mutation of c.919-2A>G in the splice site of intron 7 and a novel mutation of c.1023insC in exon 9, which results in a frameshift and translational termination, consequently leading to truncated Pendrin protein. Sequence homology analysis indicated that all the mutations localized at high conservation sites, which emphasized the significance of these mutations on Pendrin spatial organization and function. CONCLUSION: In summary, this study revealed two compound heterozygous mutations (c.1174A>T/c.1181delTCT; c.919- 2A>G/c.1023insC) in Pendrin protein, which might account for the deafness of the two probands clinically diagnosed with EVA. Thus this study contributes to improve understanding of the causes of hearing loss associated with EVA and develop a more scientific screening strategy for deafness.
Asian Continental Ancestry Group ; Child ; Clinical Coding ; Computer Simulation ; Deafness ; Exons ; Extravehicular Activity ; Frameshift Mutation ; Hearing Loss ; Heterozygote ; Humans ; Introns ; Mass Screening ; Parents ; Sequence Homology ; Siblings ; Vestibular Aqueduct

Objective To establish a clinical cytokine test method based on flow multiple microarray technology,and discuss its clinical significance by observing the change of cytokines level in the early stage of influenza.Methods 54 cases of influenza A virus positive and 20 cases of influenza A virus negative influenza like patients were selected as influenza group.Among them,influenza A virus positive patients were divided into mild group and severe group,influenza A virus negative influenza like patients were as neg-ative group.In addition,35 healthy people were selected as the control group,and the cytokine of all the whole blood samples was detected and statistically analyzed.Results Interleukin-6(IL-6),interleukin-21(IL-21),interleukin-12p70(IL-12p70),interleukin-1 β(IL-1 β)and interleukin-10(IL-10),chemokine-10(IP-10),interleukin-2(IL-2),monocyte chemoattractant protein-1(MCP-1)lev-els were significantly higher in the patients with early onset of influenza,and the difference was statistically significant(P<0.05). The difference of interferon-γ(IFN-γ)between the influenza group and the control group was not statistically significant(P> 0. 05).The levels of IL-6 and IP-10 in the severe group were higher than that of the mild group and the negative group,and the differ-ence was statistically significant(P<0.05).Conclusion IL-6,IL-21,IL-12p70,IL-1 beta,IL-10,IP-10,IL-2 and MCP-1 levels can be used as clinical biological evaluation indicators of patients with fever,of which IL-6 and IP-10 can be used as important indicators for disease progression assessment.

Objective:To analyze the expression of MUC15 and PI3K/Akt in gastric carcinoma and its association with clinicopathologi-cal characteristics and prognosis. Methods:The expression of MUC15 and Akt was detected in 144 cases of gastric carcinoma tissues and corresponding para-carcinoma tissues by tissue microarray and immunohistochemistry. Results:The positive expression rate of MUC15 in gastric carcinoma was 79.8%, higher than that of para-carcinoma tissues (22.2%, P<0.01). The positive expression rate of Akt protein in gastric carcinoma was 80.6%, higher than that of para-carcinoma tissues (16.7%, P<0.01). The expression of MUC15 and Akt was statistically associated with the grades of differentiation, invasion depth, lymphatic metastasis, TNM stage of tumor tissues (P<0.05), and the positive correlation between the two protein expression that appear in the gastric tumor tissue (P=0.001). Univariate survival analysis showed that the over-expression of either MUC15 or Akt was inversely correlated with the survival time (P<0.05 and P<0.01, respectively). Cox multiple regression analysis indicated that patients with over-expression of both MUC15 and Akt had the worst prognoses (HR=3.115, P<0.05). Conclusion:MUC15 may be involved in the occurrence, development, invasion, and metastasis of gastric cancer through the PI3K/Akt cell signaling pathway, and the expression of MUC15 combined with Akt is a powerful predictor for the prognosis of gastric cancer.