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2023 Vol. 53, No. 12 Published: 2023-12-25   947 Phenotype and gene mutation analysis of two compound heterozygous mutations resulting in families with inherited coagulation factor V deficiency ZHENG Zhou, XU Qiyu, ZHOU Xingxing, WANG Mingshan,XIE Yaosheng DOI: 10.3969/j.issn.2095-9400.2023.12.001 Objective: To analyze the coagulation index and genotype of two patient with hereditary coagulation Factor V (FV) deficiency by compound heterozygous mutations and their family members, and to explore their molecular pathogenesis. Methods: The blood coagulation indexes such as Plasma FV activity (FV:C) and FV antigen (FV:Ag) in the peripheral blood of each family member were measured by the onestage clotting method. All exons and their flanking regions of the F5 gene were amplified by PCR and then sequenced. The impact of mutations on protein function was analyzed by Bioinformatics software. The spatial structure changes of FV proteins were analyzed by PyMOL software before and after mutations. The function of the mutant protein was analyzed by the Calibrated automated thrombogram. Results: Phenotypic testing showed that both probands had a decrease in FV:C and FV:Ag simultaneously, manifesting as type I of the FV deficiency. Genetic analysis showed that the proband A had c.332G>T heterozygous missense mutation (p.Ser111Ile) in exon 3 and c.6665A>G heterozygous polymorphism (p.Arg2222Gly) in exon 25; the proband B had c.286G>C heterozygous missense mutation (p. Asp96His) in exon 3 and c.2393-2393delC heterozygous deletion mutation (p.Pro798Leufs*13) in exon 13. Bioinformatics analysis showed the p.Ser111Ile mutation and the p.Pro798Leufs*13 mutation were pathogenic mutations. Protein model analysis showed that p.Ser111Ile mutation could affect the structure of hydrogen bonds between amino acids. The truncated protein were produced by a p.Pro798Leufs*13 mutation. The thrombin generation test showed that the clotting function of proband A and B had been affected. Conclusion: These four mutations may be responsible for the reduction of FV level in two families. Moreover, the p.Ser111Ile mutation is a rarely reported. 2023 Vol. 53 (12): 947-953 [Abstract] ( 179 ) HTML (1 KB)  PDF (2056 KB)  ( 802 ) 954 MiR-152-3p in the target regulation of KLF4 to promote proliferation, migration, and invasion in colorectal cancer cells ZHAO Jianguo, ZHU Xiaoling, JIN Xueying, JIANG Liming, LI Zhenjun, CHEN Xialin DOI: 10.3969/j.issn.2095-9400.2023.12.002 Objective: To investigate the expression of microRNA-152-3p (miR-152-3p) in colon cancer (CC) and its effect of targeting Krüppel-like factor 4 (KLF4) on proliferation, migration and invasion of CC cells. Methods: The targeting relationship between miR-152-3p and KLF4 was predicted by starBase and TCGA database analysis, as well as the difference in their respective expression in normal and CC tissues. Dual luciferase and RIP experiments verified the targeting relationship between miR-152-3p and KLF4. The mRNA expression of miR-152-3p and KLF4 in CC cell lines was measured by RT-qPCR; the protein expression of KLF4 in CC cell lines was measured by Western blot; the proliferation ability of cells was examined by MTT; the migration ability of cells was examined by scratch healing assay; the invasion ability of cells was examined by Transwell assay; the cell cycle distribution and apoptosis percentage of cells were examined by cell cycle assay and apoptosis assay. Results: miR-152-3p was highly expressed in CC tissues and cell lines (P<0.001), while KLF4 was lowly expressed (P<0.01). miR-152-3p was able to target and downregulate KLF4 expression (P<0.01). miR-152-3p overexpression increased the proliferation, migration and invasion ability of CC cell lines, as well as cell cycle distribution in S and G2/M phases, and inhibited their apoptosis; KLF4 overexpression decreased the proliferation, migration and invasion ability of CC cell lines, contributing to cell cycle retention in G0/G1 phase, and accelerated apoptosis (P<0.05). The up-regulation of KLF4 expression inhibited the promotion of miR-152-3p on the proliferation, migration and invasion of CC cells (P<0.05), increased the proportion of cells in G0/G1 phase (P<0.05), and promoted apoptosis (P<0.05). Conclusion: miR-152-3p promotes proliferation,migration and invasion of CC cells by targeting down-regulation of KLF4 expression. 2023 Vol. 53 (12): 954-962,968 [Abstract] ( 241 ) HTML (1 KB)  PDF (2645 KB)  ( 585 ) 963 Characteristics of short-wavelength and near-infrared fundus autofluorescence imaging in flat irregular pigment epithelial detachment in central serous chorioretinopathy YANG Chun, ZHOU Tingye, LIN Bing. DOI: 10.3969/j.issn.2095-9400.2023.12.003 Objective: To observe the short-wavelength fundus autofluorescence (SW-FAF) and nearinfrared fundus autofluorescence (NIR-FAF) image characteristics of flat irregular pigment epithelial detachment (FIPED) in central serous chorioretinopathy (CSCR). Methods: A total of 38 eyes from 38 patients diagnosed with chronic or recurrent CSCR with FIPED at the Department of Retinal, Wenzhou Medical University Eye Hospital, between March 2020 and March 2021, were included for the retrospective study. SW-FAF, NIRFAF,and other multimodal imaging examinations were performed using the Heidelberg Spectralis HRA+OCT system to analyze the FAF characteristics of FIPED. Results: Of 38 eyes with chronic or recurrent CSCR, 20 eyes had vascularized FIPED and 18 eyes had non-vascularized FIPED. Vascularized FIPED showed punctate hypoautofluoresence (65%, 13/20), mixed hypoautofluoresence (20%, 4/20), and punctate mixed autofluorescence (15%, 3/20) on SW-FAF. Non-vascularized FIPED exhibited punctate mixed autofluorescence (55.6%, 10/18),punctate hypoautofluoresence (38.9%, 7/18), and mixed hypoautofluoresence (5.6%, 1/18) on SW-FAF.Vascularized FIPED showed fused with punctate hypoautofluoresence (80%, 16/20) and patchy mixed autofluorescence (20%, 4/20) on NIR-FAF. Non-vascularized FIPED demonstrated patchy mixed autofluorescence (83.3%, 15/18) and patchy hypoautofluoresence (16.7%, 3/18) on NIR-FAF. Conclusion: Vascularized and nonvascularized FIPED in patients with chronic or recurrent CSCR exhibit characteristic SW-FAF and NIR-FAF changes, which can guide treatment and follow-up. 2023 Vol. 53 (12): 963-968 [Abstract] ( 142 ) HTML (1 KB)  PDF (3328 KB)  ( 703 ) 969 Correlation analysis between mutitations of mitochondrial DNA D-Loop region and asthenozoospermia CHEN Mengquan, SHAN Tingting, HUANG Rui, KONG Wanzhong DOI: 10.3969/j.issn.2095-9400.2023.12.004 Objective: To investigate the relationship between mutations in the D-Loop region of spermatozoal mitochondrial DNA and asthenozoospermia. Methods: Semen samples from 134 asthenozoospermic patients (asthenospermia group) and 129 healthy men (control group) diagnosed and treated in Wenzhou Hospital of Traditional Chinese Medicine from July 2019 to March 2021 were collected, analyzed by the polymerase chain reaction (PCR)-sequencing method. The sequencing results of the D-Loop region of mtDNA were compared with the revised Cambridge Reference Sequence (rCRS). Mutations in the D-Loop region of mtDNA in spermatozoa from asthenozoospermic patients were analyzed using chi-square tests. Results: There were 62 mutations occurring in >5% of the frequencies in both groups, most of which were in the HV-1 and HV-2 regions,and the mutation type consisted mainly of alternate mutations. Analysis revealed a significant difference (P<0.05) between asthenozoospermia and controls in 11 mutations, which might increase or reduce the risk of asthenozoospermia. Conclusion: The high rate of mutations in the mtDNA D-Loop region of spermatozoa may play an important role in the development and progression of asthenozoospermia, which has implications for clinical screening and diagnosis of asthenozoospermia. 2023 Vol. 53 (12): 969-973,979 [Abstract] ( 170 ) HTML (1 KB)  PDF (1516 KB)  ( 664 ) 974 Consistency analysis of the three-dimensional volume and mass measurement in pulmonary subsolid nodules GUO Xiaowan, JIA Xudong, ZHANG Danqing, JIA Dezhao, CHEN Yingmin, ZHANG Shuqian,LIU Yang,SHI Gaofeng DOI: 10.3969/j.issn.2095-9400.2023.12.005 Objective: To investigate the reproducibility of volume and mass measurements assessed by commercially available pulmonary nodule segmentation software and to compare intraobserver and interobserver differences. Methods: From June 1, 2016 to December 31, 2019, image data of 163 SSNs found in 117 patients who underwent chest CT examination in Hebei Provincial People’s Hospital were retrospectively collected. The two-dimensional (2D) volume, three-dimensional (3D) volume and mass of the enrolled SSNs were measured with volumetric software by two radiologists. Bland-Altman method was used to compare intraobserver and interobserver variability, and Wilcoxon method was used to compare the variance between the two. Results: A total of 163 SSNs were included. The intra-observer correlation coefficient of 3D mass and volume measurement variability was 0.999 and the interobserver correlation coefficient of 3D mass and volume measurement variability was 0.999. As for two-dimensional volume measurement, intraobserver and interobserver variability ranged from -25.1% to 24.6% and from -32.0% to 30.3% respectively, in contrast to the range from -16.7% to 13.7% and from -15.0% to 13.5%, respectively, for the three-dimensional volume measurement. As for the three-dimensional mass measurement, the intrao-bserver and interobserver variability ranged from -7.8% to 8.2% and from -11.0% to 9.7%, respectively. No significant difference was found for intra-observer and interobserver variability between 3D volume and mass measurements (P>0.05). Conclusion: The commercially available semi-automatic pulmonary nodule segmentation software has good repeatability in the quality measurement of SSNs, which can be used as a quantitative assessment method for the follow-up growth of SSNs. 2023 Vol. 53 (12): 974-979 [Abstract] ( 153 ) HTML (1 KB)  PDF (1684 KB)  ( 639 ) 980 A nomogram model for distinguishing factors of synchronous multiple colorectal carcinoma from single colorectal carcinoma CHENG Jinkun, LI Qi, CUI Wei. DOI: 10.3969/j.issn.2095-9400.2023.12.006 Objective: To explore the differentiation factors related to the synchronous multiple colorectal carcinoma (SMCRC) and single colorectal carcinoma(CRC), and to construct a nomogram prediction model. Methods: The clinical data of 42 patients with SMCRC and 120 patients with single CRC who underwent surgery in Ningbo Medical Center Lihuili Hospital from January 2016 to December 2021 were retrospectively collected.Univariate analysis and multivariate Logistic regression were used to analyze the differentiation factors related to the SMCRC and single CRC, based on which a nomogram prediction model was constructed. The predictive efficiency of the model was analyzed by ROC curve and calibration curve. Results: Univariate analysis showed that sex, adenomatous polyp, hypertension, serum carcinoembryonic antigen level, albumin content, and hemoglobin content were statistically difference between the two groups (P<0.05). Multivariate Logistic regression analysis showed that male (OR=3.108, 95%CI=1.113-8.682), adenomatous polyp (OR=2.941, 95%CI=1.036-8.346), hypertension (OR=3.202, 95%CI=1.128-9.088), and hemoglobin≤120 g/L (OR=3.868, 95%CI=1.095-13.671) were independent predictors for distinguishing the occurrence of SMCRC from single CRC (P<0.05).The area under the ROC curve was 0.743 (95%CI=0.630-0.856). The sensitivity was 75% and the specificity was 68%. The calibration curve showed that the three curves fit well, indicating that the model had good consistency and accuracy. Conclusion: In this study, the identification factors related to SMCRC and single CRC has been analyzed and a nomogram prediction model constructed to accurately assess the risk of SMCRC, which provides a basis for early clinical identification of SMCRC. 2023 Vol. 53 (12): 980-984 [Abstract] ( 148 ) HTML (1 KB)  PDF (1408 KB)  ( 798 ) 985 Impact of an evidence-based multidisciplinary collaborative care model on acute ischemic stroke caregivers XU Xiaobin, XIA Wenping, CHEN Guoli, SUN Weiyan DOI: 10.3969/j.issn.2095-9400.2023.12.007 Objective: To investigate and elucidate the impact of a collaborative multidisciplinary care model on acute ischemic stroke caregivers. Methods: Using the random number table method, a total of 119 pairs of patients with acute ischemic stroke and their caregivers who were hospitalized in Lishui Central Hospital from December 2019 to May 2023 were selected and divided as the multidisciplinary collaborative care group (n=62) by an evidence-based multidisciplinary collaborative nursing model and the control group (n=57) by a conventional nursing care model. At the time of 3 months after discharge, the Zarit caregiver burden interview (ZBI), self-rating depression scale (SDS), and the Mos 36-item short form health survey (SF-36) were used to evaluate, with analysis made, the impact of two different nursing modes on the care burden, depression level and life quality of caregivers. Results: The scores of Zarit caregiver burden scale and self-rating depression scale of both groups of caregivers decreased three months after discharge (P<0.001). The scores of Zarit caregiver burden scale in the multidisciplinary collaborative care group were significantly lower than those of the caregivers in the control group (P<0.001), and the proportion of caregivers with moderate or greater care burden was lower (χ2=16.384, P<0.001). The self-rating depression scale scores of the caregivers in the multidisciplinary collaborative care group were significantly lower than those of the caregivers in the control group (P<0.001), and the proportion of caregivers classified as depressed was significantly lower (χ2=4.449, P=0.035). The life quality scores of caregivers in both groups improved, and the total physical and mental health scores of caregivers in the multidisciplinary collaborative care group were significantly higher than those in the control group (all P<0.001).Conclusion: The evidence-based multidisciplinary collaborative nursing model is helpful for the acute ischemic stroke caregivers by reducing their care burden, making them psychologically stronger and enhancing their quality of life, therefore, it merits clinical implementation and promotion. 2023 Vol. 53 (12): 985-991 [Abstract] ( 200 ) HTML (1 KB)  PDF (1360 KB)  ( 637 ) 992 Summary of best evidence for the self-management in patients with irritable bowel syndrome JIANG Hao, XIE Ziling, DONG Chaoqun. DOI: 10.3969/j.issn.2095-9400.2023.12.008 Objective: To search, evaluate and summarize the relevant evidence for self-management of patients with irritable bowel syndrome (IBS), so as to provide evidence-based information for clinical healthcare personnel to implement standardized patient self-management. Methods: Based on the “6S” evidence resource pyramid model, the top-down systematical search for evidence on self-management in patients with IBS was done in guideline websites, websites of professional societies, and comprehensive databases from January 2013 to December 2022; the types of literature included guidelines, clinical decisions, evidence summaries,expert consensus, and systematic reviews. Two researchers who were trained in evidence-based methodology independently evaluated the quality of the included literature, and the best evidence was extracted and summarized to form the best evidence. Results: A total of 18 literatures were included, including 8 guidelines, 1 clinical decision, 6 expert consensus, and 3 systematic reviews. Finally, a total of 27 pieces of best evidence were summarized, including 6 aspects of self-management, that is management support, knowledge learning, selfmonitoring,diet management, exercise management, and psychological adjustment. Conclusion: The study summarized the best evidence for self-management in IBS patients, which can provide an evidence-based information for clinical healthcare professionals to more scientifically and effectively guide IBS patients in comprehensive self-management. 2023 Vol. 53 (12): 992-999,1006 [Abstract] ( 206 ) HTML (1 KB)  PDF (1479 KB)  ( 713 ) 1000 A standardized patient-based training plan for nursing interns to address hospital violence JIN Liya,ZHU Ya, HU Miaoye, ZHANG Chunmei DOI: 10.3969/j.issn.2095-9400.2023.12.009 Objective: To develop a standardized patient-based training plan for nursing interns to deal with hospital violence, which can be a guide for nursing interns in response to hospital violence and better handle such situations. Methods: Databases were searched to obtain full-text research on relevant topics, and evidence-based medicine methods were used to evaluate the evidence level and quality of the papers. With the best intervention evidence assessed and selected, a preliminary nursing intervention plan for hospital violence based on standardized patient simulations was constructed. This plan was further refined and the final training program was determined through two rounds of Delphi expert consultations. Results: A total of 17 articles were included in the study. A standardized patient-based training plan was constructed for student nurses to deal with hospital violence, including general knowledge of hospital violence, protective skills against hospital violence, and 44 specific indicators based on standardized patient simulations. The effective response rate for the two rounds of questionnaires was both 100%, and the expert authority coefficient (Cr) was 0.822 and 0.835, andKendall’s W values was 0.247 and 0.308 respective, all of which showed statistical significance (P<0.01). Conclusion:The training plan for nursing interns to deal with hospital violence based on standardized patient simulations developed in this study has scientific validity and feasibility, which can provide a reference for clinical nursing education and training. 2023 Vol. 53 (12): 1000-1006 [Abstract] ( 129 ) HTML (1 KB)  PDF (1388 KB)  ( 665 ) 1015 Research progress in fibroblast growth factor 21 in metabolic diseases CHANG Hongkai, ZHAO Dong DOI: 10.3969/j.issn.2095-9400.2023.12.012 Fibroblast growth factor 21 (FGF21) is an atypical member of the fibroblast growth factor (FGF) superfamily and is secreted into blood to act mainly in target tissues, including brain, liver, adipose tissue, skeletal muscle and pancreas islet via a heterodimeric receptor complex comprising fibroblast growth factor receptor (FGFR1) and coreceptor β-Klotho. Previous studies suggest that FGF21 can decrease blood glucose levels and body weight. Targeting FGF21 has emerged as an option for nonalcoholic steatohepatitis (NASH) therapy. The current clinical trials indicate that FGF21 has the potential for the treatment of nonalcoholic steatohepatitis.However, the effect of FGF21 analog on liver histology, clinical outcome and safety needs to be further verified with a larger number of patients. This review summarizes the mechanism and recent development of FGF21 functions in metabolic diseases and related clinical drug research advances, which might provide a suitable reference for clinical management. 2023 Vol. 53 (12): 1015-1022 [Abstract] ( 225 ) HTML (1 KB)  PDF (1406 KB)  ( 1002 ) 1023 Systematic reconstruction of medical knowledge for basic medical teachers with non-clinical medical background LOU Yanqi, YANG Xindong, CUI Huairui, LOU Xinfa DOI: 10.3969/j.issn.2095-9400.2023.12.013 In response to the continuous increase in the number of basic medical teachers with non-clinical medical background in medical colleges, this paper proposes a series of effective ways to systematically reshape the medical knowledge of basic medical teachers with non-clinical medical background based on an analysis of the current professional background of basic medical teachers in Wenzhou Medical University, so as to improve the post competency by avoiding the disconnection between basic medical education and clinical practice. The effective ways Include the formulation of teacher training program with clear training objectives; the implementation of the tutor training system to improve professional quality in the form of “mentoring”; the customization of the curriculum with core medical course for the systematic learning of medical knowledge; the determination of the core knowledge points of the course for sake of early integration with the clinical practice. 2023 Vol. 53 (12): 1023-1027 [Abstract] ( 277 ) HTML (1 KB)  PDF (1284 KB)  ( 760 ) 1028 The coordinated development mode of biopharmaceutical industry-university-research: an investigation based on the experience in the development of biopharmaceutical industry in Zhejiang Province CHENG Yongwei, FENG Xiaochu DOI: 10.3969/j.issn.2095-9400.2023.12.014 China has stepped into the “14th Five-Year Plan” period of high-quality development. By April 2023, nearly 490 biopharmaceutical enterprises have been listed in China’s A-share market, with a total market value of approximately 7.29 trillion yuan. Considered as an emerging industry of strategic significance in the 14th Five-Year Plan, biopharmaceutical industry is expected to become an important support for the public healthcare in the future. At present, Zhejiang Province, compared with other regions in China, has stronger pharmaceutical innovation capacity. However, some deficiencies were found in the aspects of collaborative development and model innovation. This research, combining the practical and empirical research paradigm proceeded from the reality, will share literature analysis, theoretical analysis and empirical analysis, by which we mean to provide suggestions for building a modern pharmaceutical collaborative innovation system that would be able to realize self-generating and virtuous cycle development, with a view to promoting the coordinated development of biopharmaceutical industry-university-research. 2023 Vol. 53 (12): 1028-1032,封三 [Abstract] ( 283 ) HTML (1 KB)  PDF (1352 KB)  ( 617 )

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