OBJECTIVE: To analyze a Chinese pedigree with Hereditary coagulation factor Ⅻ (FⅫ) deficiency duo to variants of F12 gene and explore its molecular pathogenesis. METHODS: A patient who underwent laparoscopic cystectomy at the Department of Gynecology of the First Affiliated Hospital of Wenzhou Medical University in June 2012 was selected as the study subject. Coagulation factor indexes of the proband and her family members (5 individuals from three generations) were determined. All exons, flanking sequences, 5' and 3' untranslated regions of the F12 gene of the proband and her family members were analyzed by direct sequencing. Three bioinformatics software was used to analyze the conservation, pathogenicity and protein model of the variant. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No. 2012-17). RESULTS: The activated partial thromboplastin time (APTT), FⅫ activity (FⅫ:C) and FⅫ antigen (FⅫ:Ag) of the proband was 180.0 s, 1.0% and 2.1%, respectively. DNA sequencing revealed that she has harbored compound heterozygous variants of the F12 gene, namely c.712_713insT (p.Cys238Leufs *73) in exon 8 and c.1561G>A (p.Glu521Lys) in exon 13. Her mother and younger son were heterozygous for the p.Cys238Leufs*73 variant, while her older son was heterozygous for the p.Glu521Lys variant. Bioinformatic analysis suggested that Cys238 is highly conserved and p.Cys238Leufs*73 is a pathogenic variant, which eventually resulted in a truncated protein. CONCLUSION The c.712_713insT and c.1561G>A compound heterozygous variants of the F12 gene probably underlay the decreased FⅫ level in this pedigree, among which c.712_713insT (NM_000505) was unreported previously.
Adult ; Female ; Humans ; Male ; Middle Aged ; Base Sequence ; China ; Factor XII/genetics* ; Heterozygote ; Mutation ; Pedigree ; Factor XII Deficiency/genetics* ; East Asian People

OBJECTIVE To explore the safety， effectiveness， and cost-effectiveness of elderly patients with sarcopenia receiving Shenling baizhu powder combined with nutrition and exercise intervention， providing a reference for rational clinical drug use. METHODS A total of 237 elderly sarcopenia patients were randomly assigned to an observation group （118 cases） and a control group （119 cases）. Both groups of patients received nutrition and exercise intervention； the observation group added Shenling baizhu powder （6 g each time， three times daily） on this basis. The safety， effectiveness， and cost-effectiveness of the two plans were compared after 3 months. RESULTS Both groups of patients completed the follow-up. Before intervention， no significant difference was observed in skeletal muscle index （SMI）， grip strength， and 6-minute walk test （6MWT） speed between the two groups （P＞0.05）. After intervention， the grip strength of the patients in the observation group was significantly greater than that of the control group （25.05 kg vs. 23.18 kg， P＜0.01）； the treatment response rate of sarcopenia， SMI， and 6MWT speed were higher than those of the control group， butthe differences were not statistically significant （P＞0.05）. The adverse reaction/event rate of the patients in the observation group was lower than that of the control group （14.41% vs. 16.81%， P＝0.611）， but the difference was not statistically significant. Compared with the control group’s plan， the cost of the observation group’s plan was higher （981.25 yuan vs. 913.94 yuan）， and the effect was better （effectiveness rate： 0.618 6 vs. 0.563 0）， with an incremental cost-effectiveness ratio of 1 210.61 yuan. The results of the sensitivity analysis were consistent with the cost-effectiveness analysis results. CONCLUSION Elderly patients with sarcopenia who receive Shenling baizhu powder combined with nutrition and exercise intervention can significantly strengthen grip strength without increasing the incidence of adverse reactions/events. Compared with the control group plan， the observation group needs to spend an additional 1 210.61 yuan for each additional effective patient with sarcopenia.

Objective:To analyze the Helicobacter pylori ( Hp) infection status in patients with colorectal polyp, and to study the relationship between the clinical features of colonoscopy and the Hp infection. Methods:The clinical data of 637 patients underwent colonoscopy from January to December 2022 in Dalian Central Hospital of Dalian University of Technology were retrospectively analyzed. The Hp infection status was detected by 14C-urea breath test. The relevant clinical data were recorded including age, gender, body mass index (BMI), total cholesterol (TC), triacylglycerol (TG), smoking history, Hp infection status, polyp diameter, polyp number, polyp location and polyp pathological classification. Multivariate Logistic regression was used to analyze the independent risk factors of colorectal polyp. Results:Among the 637 patients, 437 patients suffered from colorectal polyp (colorectal polyp group), and 200 patients had no colorectal polyp (control group). There were no statistical difference in age, TC and smoking history between two groups ( P>0.05); the male proportion, BMI, TG and Hp infection rate in colorectal polyp group were significantly higher than those in control group: 57.44% (251/437) vs. 35.00% (70/200), (24.34 ± 3.24) kg/m 2 vs. (23.70 ± 3.40) kg/m 2, 1.47 (0.93, 1.75) mmol/L vs. 1.31 (0.86, 1.63) mmol/L and 54.46% (238/437) vs. 40.00% (80/200), and there were statistical differences ( P<0.01 or <0.05). Multivariate Logistic regression analysis result showed that gender and Hp infection were independent risk factors of colorectal polyp ( OR = 2.260 and 1.545, 95% CI 1.568 to 3.258 and 1.082 to 2.208, P<0.01 or <0.05). Among the 437 patients in the colorectal polyp group, Hp infection was in 238 cases, and non- Hp infection was in 199 cases. There was no statistical difference in polyp location between Hp infection patients and non- Hp infection patients ( P>0.05); the rates of polyp diameter ≥0.5 cm, multiple polyp and adenomatous polyp in Hp infection patients were significantly higher than those in non- Hp infection patients: 66.81% (159/238) vs. 53.27% (106/199), 55.04% (131/238) vs. 36.68% (73/199) and 67.23% (160/238) vs. 54.77% (109/199), and there were statistical differences ( P<0.01). Conclusions:Hp infection is an important pathogenic factor for colorectal polyp. Hp infection is associated with some clinical features of colorectal polyp.

OBJECTIVE: To explore the molecular pathogenesis of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ (FⅪ) deficiency due to variants of the F11 gene. METHODS: A male proband with Hereditary coagulation factor Ⅺ deficiency who was admitted to the First Affiliated Hospital of Wenzhou Medical University due to urinary calculi on November 30, 2020 and his family members (7 individuals from 3 generations in total) were selected as the study subjects. Clinical data of the proband were collected, and relevant coagulation indices of the proband and his family members were determined. Genomic DNA of peripheral blood samples was extracted for PCR amplification. All exons, flanking sequences, and 5' and 3' untranslated regions of the F11 gene of the proband were analyzed by direct sequencing. And the corresponding sites were subjected to sequencing in other family members. The conservation of amino acid variation sites was analyzed by bioinformatic software, and the effect of the variant on the protein function was analyzed. Variants were graded based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: The proband was a 36-year-old male. His activated partial thromboplastin time (APTT) was 89.2s, which was significantly prolonged. The FⅪ activity (FⅪ:C) and FⅪ antigen (FⅪ:Ag) were 2.0% and 3.5%, respectively, which were extremely reduced. Both the proband and his sister were found to harbor compound heterozygous variants of the F11 gene, including a c.689G>T (p.Cys230Phe) missense variant in exon 7 from their father and a c.1556G>A (p.Trp519*) nonsense variant in exon 13 from their mother. Conservation analysis indicated the Cys230 site to be highly conserved. The c.1556G>A (p.Trp519*) variant was known to be pathogenic, whilst the c.689G>T variant was classified as likely pathogenic (PM2+PM5+PP1+PP3+PP4) based on the ACMG guidelines. CONCLUSION The c.689G>T and c.1556G>A compound heterozygous variants of the F11 gene probably underlay the pathogenesis of FⅪ deficiency in this pedigree.
Adult ; Humans ; Male ; 3' Untranslated Regions ; East Asian People ; Factor XI/genetics* ; Factor XI Deficiency/genetics* ; Partial Thromboplastin Time ; Pedigree

OBJECTIVE: To develop a novel cognitive screening tool for older adults in China. METHODS: "Game-based Cognitive Assessment-3 Minute Version"(G3) was designed and developed based on WeChat mini-program. And its feasibility was analyzed. RESULTS: G3 mini-program contains three one-minute mini digital games and supports users' self-assessment of cognitive functions with instant access to reports. G3 had a good correlation with Montreal Cognitive Assessment Basic (MoCA-B) with Pearson's r =0.611 (P<0.001). Among natural users aged 50 and older (71 179), the G3 initiation and completion rates were 99.55% and 92.28%, respectively. The average time to complete G3 assessments was (278.5±73.73) seconds. CONCLUSIONS The novel G3 mini-program has good feasibility and usability for older Chinese adults, and can be used for cognitive screening and home self-assessment.
Feasibility Studies ; Neuropsychological Tests ; Cognition ; China

Objective:To investigate the effects of ovarian cancer ascites-derived exosomes on the stem cell properties and invasion ability of ovarian cancer stem-like cell (OCS-LC).Methods:(1) A2780 cells were induced into OCS-LC in serum-free medium, and authenticating their stem-like properties by sphere-forming test, differentiation test and CD 133 marker detection. (2) Exosomes from ascites and A2780 cell were extracted by ultracentrifugation, then authenticating them. The morphology of exosomes was observed by the transmission electron microscope, exosome particle size was measured by nanoparticle tracking analysis (NTA). The expressions of heat shock protein 70 (HSP-70), CD 63 and CD 9 were detected by western blot. (3) The exosomes from ovarian cancer ascites and tumor cell supernate were co-cultured with OCS-LC. The groups were divided into control group, ascites-derived exosomes (ADE) group (ADE+OCS-LC group), and cells-derived exosomes (CDE) group (CDE+OCS-LC group). The sphere-forming ability was evaluated by sphere-forming cycle, maximum sphere diameter and sphere-forming rate of each group; the expression of CD 133 was detected by immunofluorescence staining under microscope; quantitative real-time (qRT)-PCR was used to detected the expression levels of octamer-4 (Oct-4), Nanog mRNA of the signature genes in the stem cells of each group; the metastasis ability of each group was measured by transwell assay. Results:(1) Identification of OCS-LC: sphere-forming experiment showed that the suspension of OCSC single cells was grown in serum-free medium in secondary sphere-forming. Differentiation function experiment showed that OCS-LC were differentiated into adherent A2780 cells by changing the growth mode in serum containing medium. Flow cytometry showed that the proportion of CD 133 positive ( CD133+) cells in OCS-LC group was (18.9±0.9)%, significantly higher than that of control group (0.6±0.5)% ( t=38.570, P<0.01). (2) Under transmission electron microscope, clear lipid bilayer structure was observed in ADE and CDE, and one side presented a concave hemispheric or cup like structure. NTA showed that the diameter of exosomes mainly ranged from 30 to 100 nm, with an average diameter of 67.2 nm. Western blot analysis showed that the specific protein molecules HSP-70, CD 63 and CD 9 were positive. (3) Three groups′ OCS-LC could continue to grow into spheres, and the group of ADE+OCS-LC showed two growth modes, most of the cells continued to grow into spheres, while a small part of cells grew in adherent differentiation. The sphere-forming rate of OCS-LC in the control group, ADE+OCS-LC group, and CDE+OCS-LC group were (1.05±0.20)%, (4.15±0.10)%, and (10.45±0.25)%, the sphere-forming cycle of OCS-LC in the three groups were (15.3±1.5), (10.3±0.6), and (6.7±0.6) days, and the maximum diameters of OCS-LC were (100.3±3.2), (145.2±5.1) and (170.0±2.1) μm, respectively. And the differences were statistically significant (all P<0.05). After co-culture of exosomes with OCS-LC, the sphere-forming ability of cells in the group of CDE+OCS-LC was prior to ADE+OCS-LC group (all P<0.05). Immunofluorescence staining showed that the number of CD 133 green fluorescent chromophore cells in OCS-LC groups [(46.2±2.1)%, (58.4±2.2)%] was significantly higher than that in the control group [(26.6±1.5)%] after the addition of exosomes in co-culture, the positive rate of CD 133 was higher than that in the control group( F=187.588, P<0.05). The qRT-PCR results showed that the expression levels of Oct-4 mRNA in ADE+OCS-LC and CDE+OCS-LC groups were 3.46±0.24, 4.03±0.31, compared with that in control group (1.04±0.12), the differences were statistically significant ( F=134.932, P<0.05). The mRNA expression levels of Nanog were 1.57±0.32, 2.66±0.15, which were significantly higher than that in the control group (1.00±0.07), and the differences were statistically significant ( F=49.329, P<0.05). And the expression of both in CDE+OCS-LC group increased more significantly than ADE+OCS-LC group (all P<0.05). The number of invasive cells in the three groups of OCS-LC were: control group 30±5, ADE+OCS-LC group 102±4, CDE+OCS-LC group 210±7, and there were statistically significant differences among three groups ( F=820.800, P<0.05). Compared with the control group, the number of invaded cells in the co-culture group were significantly increased ( P<0.05), and the CDE+OCS-LC group had the higher cell invasion ability then the ADE+OCS-LC group ( t=23.202, P<0.05). Conclusions:Exosomes derived from ovarian cancer ascites could enhance and maintain the stemness of OSC-LC, and promote the invasion of tumor cells. Moreover, CDE is superior to ADE.

Objective:To conduct the bibliometric analysis of researches on palliative care for patients with neoplasms from 2009 to 2018 based on China National Knowledge Internet (CNKI) so as to understand the research status and hot spots in this field and provide references for related researches.Methods:Chinese journal literatures related to palliative care for neoplasms published by CNKI were searched. Bibliographic Items Co-occurrence Matrix Builder (BICOMB) and Ucinet 6.0 software were used to analyze the number, year, journal, author and key words of the included literatures.Results:A total of 1 380 literatures were included, and the number of literatures was generally increasing year by year. The distribution of journals was scattered. There were 9 kinds of journals with published article volume of 20 or above, including 5 nursing journals. There were 1 265 first authors and no core author. 16 authors published 3 or more papers, and no cooperative relationship was formed. A total of 1 687 keywords were extracted from 1 380 literatures. In researches on palliative care for neoplasms in China, the hot groups were patients with advanced tumors, end-of-life patients and the elderly, and the single disease types involved were lung cancer, liver cancer, pancreatic cancer and stomach cancer. Research hotspots included quality of life, influencing factors, death education and symptoms of pain, depression, anxiety and cancer-related fatigue.Conclusions:The researches on palliative care for neoplasms in China is in the early stage of rapid development. It is necessary to strengthen cooperation, learn from foreign ideas and methods and promote the further development of domestic palliative care for neoplasms.

Objective To investigate the colonization of Gram-negative bacilli carrying mcr-1 gene in intestinal tracts of inpatients and people having physical examination for further elucidating the molecular and epidemiological features of mcr-1 gene. Methods A total of 1263 and 750 fecal specimens were col-lected from inpatients in the First Affiliated Hospital of Guangzhou Medical University and people having physical examination in the Kingmed Physical Examination Centre, respectively. Drug-resistant bacteria were isolated using Maconkey agar supplemented with colistin. PCR was performed to detect the bacteria carrying mcr-1 gene. Multilocus sequence typing ( MLST) and enterobacterial repetitive intergenic consensus-PCR ( ERIC-PCR) were used for homology analysis. The transferability of mcr-1 gene was verified by plasmid transfer assays. Plasmids of mcr-1-carrying strains were typed by PCR-based replicon typing techniques. Twelve virulence-related genes were also detected by PCR. Results Ninety-two colistin-resistant strains were isolated from the 1263 samples from inpatients(7. 3％, 92/1263) and two of them were positive for mcr-1 gene ( one strain also carried the blaNDM-5 gene) . Thirty-six colistin-resistant strains were isolated from the 750 samples of physical examination group (4. 8％, 36/750) and one of them carried the mcr-1 gene. MLST analysis showed that three mcr-1-carrying Escherichia coli strains ( minimum inhibitory concentration of colistin:8 μg/ml) belonged to three different sequence types. Moreover, they exhibited different banding patterns in ERIC-PCR analysis. All of the mcr-1-carrying isolates could transfer mcr-1 gene to the recipient strains successfully. Six types of incompatibility plasmids were detected in the mcr-1-carrying isolates ( IncFⅡ, IncX2, IncHI2, IncFIB, IncX4 and IncX1). Virulence-related genes fimH, iutA and fyuA were detec-ted in all mcr-1-carrying Escherichia coli strains. Conclusions Colistin-resistant strains and mcr-1 gene are prevalent in inpatients and people having physical examination, which brings potential risk for the control of clinical infections.

MicroRNA is a class of short-chain non-coding RNA that regulates gene expression at post-transcriptional level.It can participate in the pathophysiology processes of tumor regulation,neurodegenerative disease,and cardiovascular disease.Recent studies have shown that microRNA can play a reguhtory role in ischemic brain damage through autophagy.This article reviews the effect of microRNA on autophagy after cerebral ischamia and its possible mechanisms.

Objective:To seek the short term standardization study nurses training education content and the ap-proach to learning, provide theoretical basis for improving the study effect of nurse training.Methods:Choosing 3 ~6 months in 2014 in our hospital study questionnaire survey was conducted among 114 nurses, questionnaire by general in-formation, content of training needs, demand method of three parts and using SPSS19.0 to analyze the collected data. Results:The 82.7%of study nurses think pre-service training is very necessary.Pre-service training demand of the top three comprises:occupational protection (82.7%), health care, with communication skills (80.0%) and infection prevention and control (78.2%).Refresher training needs during the top three in turn:specialized rescue of critically ill patients and cooperation (88.2%), clinical application and nursing adverse event processing (79.1%), effective communication nurses and patients (79.1%).Demand content score between the different degree and the title of ad-vanced nurse was statistically difference (P<0.05).The training methods, in the first three order practice (89.10%), seminar (74.5%), case analysis and discussion (67.30%).Conclusion:According to the study demand of nurse stand-ardized training content and ways of learning, considering the influence factors such as education, job title, targeted training plan, improve the effect of short-term training.