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Objective To identify the causative variants in 5 Chinese families with tuberous sclerosis complex(TSC)to provide genetic counseling and prenatal diagnosis.Methods Genetic counseling and clinical diagnosis were performed in 8 patients from five unrelated TSC families by teleconsultation.With informed consent obtained from the participants,3 to 5 mL peripheral blood samples were collected from the probands and their family mem-bers for the extraction of genomic DNA.Candidate pathogenic variants were screened by panel sequencing(PS).The candidate pathogenic variants found in TSC1 and TSC2 by PS were validated by PCR-Sanger sequencing and bioinformatics analysis.Results All the pathogenic mutations were identified in the probands and their available family members.Causative variants in TSC1 or TSC2 were detected in all patients,including three reported variants and two novel variants.The two novel variants,TSC2:c.245G>A and TSC2:c.235delG,which were predicted to cause the nonsense variant p.(Trp82?)and the frameshift variant p.(Val79Lysfs27?)respectively was believed to introduce premature stop codons.The analysis of family co-segregation and bioinformatics were identified as very positive factors for pathogenicity.Conclusions This result provides more evidences for the genetic counseling and prenatal diagnosis in these families and expand the spectrum of TSC2 pathogenic variants.
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BackgroundThe occurrence rate of dangerous behaviors in patients with severe mental disorders is higher than that of the general population. In China, there is limited research on the prediction of dangerous behaviors in community-dwelling patients with severe mental disorders, particularly in terms of predicting models using data mining techniques other than traditional methods. ObjectiveTo explore the influencing factors of dangerous behaviors in community-dwelling patients with severe mental disorders and testing whether the classification decision tree model is superior to the Logistic regression model. MethodsA total of 11 484 community-dwelling patients with severe mental disorders who had complete follow-up records from 2013 to 2022 were selected on December 2023. The data were divided into a training set (n=9 186) and a testing set (n=2 298) in an 8∶2 ratio. Logistic regression and classification decision trees were separately used to establish predictive models in the training set. Model discrimination and calibration were evaluated in the testing set. ResultsDuring the follow-up period, 1 115 cases (9.71%) exhibited dangerous behaviors. Logistic regression results showed that urban residence, poverty, guardianship, intellectual disability, history of dangerous behaviors, impaired insight and positive symptoms were risk factors for dangerous behaviors (OR=1.778, 1.459, 2.719, 1.483, 3.890, 1.423, 2.528, 2.124, P<0.01). Being aged ≥60 years, educated, not requiring prescribed medication and having normal social functioning were protective factors for dangerous behaviors (OR=0.594, 0.824, 0.422, 0.719, P<0.05 or 0.01). The predictive effect in the testing set showed an area under curve (AUC) of 0.729 (95% CI: 0.692~0.766), accuracy of 70.97%, sensitivity of 59.71%, and specificity of 72.05%. The classification decision tree results showed that past dangerous situations, positive symptoms, overall social functioning score, economic status, insight, household registration, disability status and age were the influencing factors for dangerous behaviors. The predictive effect in the testing set showed an AUC of 0.721 (95% CI: 0.705~0.737), accuracy of 68.28%, sensitivity of 64.46%, and specificity of 68.60%. ConclusionThe classification decision tree does not have a greater advantage over the logistic regression model in predicting the risk of dangerous behaviors in patients with severe mental disorders in the community. [Funded by Chengdu Medical Research Project (number, 2020052)]
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With the surged prevalence of myopia, the pathogenic mechanism underlying myopia has attracted attention. At present, it is generally believed in the flied that the reduced blood perfusion in the choroid is crucial for myopigenesis. Then, in the process of myopigenesis, how are the blurred visual signals transmitted to the choroidal blood vessels through the retina and retinal pigment epithelium, leading to the reduced choroidal blood perfusion. The cellular and molecular mechanisms underpinning this process remain elusive. In recent years, the theory of scleral hypoxia has attracted much attention. Popular signaling molecules in current research include dopamine, epidermal growth factor, retinoic acid, cholinergic molecules and adenosine, etc. These factors are likely to participate in signal transduction in retina and RPE, thus causing changes in choroidal blood flow and affecting the occurrence and development of myopia. Therefore, these signaling factors and their downstream pathways may provide new ideas for the prevention and control of myopia targets.
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【Objective:】 To investigate the construction status of biomedical research ethics committee involving human beings in medical institutions in Guangzhou, and to provide the basis for the standardized management of ethics committee. 【Methods:】 The convenience sampling method was conducted to investigate the construction status of biomedical research ethics committee involving human beings in 58 medical institutions in Guangzhou. The SPSS 21.0 statistical software was used to analyze the data, and the chi-square test was used for difference analysis. 【Results:】 58 medical institutions had set up biomedical research ethics committee involving human beings. 50.00% of the ethics committees hired full-time secretaries, 33.96% of the ethics offices were administratively independent, 52.83% of the ethics offices were equipped with full-time staff, 79.17% of the ethics committees submitted paper documents for review, and 48.61% of ethics committees organized training irregularly. Comparison of the management of ethics committees of drug clinical trials and non-drug clinical trials was statistically significant (P<0.05). 【Conclusion:】 The management of ethics committee is generally good, but the standardization construction still needs to be further strengthened. It is recommended to strengthen the discipline construction and informatization construction of ethics committee, standardize the special training of ethics, improve the supervision systems of ethics committee, unify the construction standards of ethics committee, so as to improve the ability of ethics review, and effectively protect the safety, rights and interests of subjects.
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Objective To investigate the risk factors of all-cause mortality in diabetic patients on peritoneal dialysis (PD).Methods As a single-center retrospective cohort study,all incident PD patients who were catheterized at the First Affiliated Hospital of Nanchang University between November 1,2005 and February 28,2017 were included.Patients were divided into diabetes mellitus group (DM group) and non-diabetes mellitus group (NDM group).Outcomes were analyzed by Kaplan-Meier method.Multivariate Cox proportional hazards models were utilized to assess the risk factors of all-cause mortality.Results A total of 977 patients were enrolled.Compared with NDM group,patients in DM group were older (47.5±14.4 vs 59.3±11.3,P < 0.01),had more cardiovascular disease (CVD) (7.5% vs 20.3%,P < 0.01),higher levels of serum hemoglobin (78.2±17.2 vs 82.3±14.6g/L,P < 0.01),and lower levels of serum albumin (36.1±5.0 vs 32.7±5.6 g/L,P < 0.01).The one-,three-and five-year patient survival rates of DM and NDM group were 89.7%,56.0%,31.9% and 94.7%,81.3%,67.4%,respectively.Survival rate was significantly lower in DM group than in NDM group (x2=63.51,P < 0.01).Stratified analysis showed that DM group had significant lower survival rate than NDM group in patients younger than 70 years old (x2=73.35,P < 0.01),while survival rate was similar between the two groups patients older than 70 years old (x2=0.003,P=0.96).Multivariate Cox proportional hazards model analysis showed that DM (HR:1.74,95%CI:1.27-2.38,P < 0.01),age (HR:1.05,95%CI:1.04-1.06,P < 0.01),leukocyte (HR:1.06,95%CI:1.00-1.12,P=0.04) and triglyceride (HR:1.19,95%CI:1.07-1.32,P < 0.01) were all independent risk factors for all-cause mortality of PD patients.However,age (HR:1.05,95%CI:1.04-1.07,P< 0.01) and alkaline phosphatase (HR:1.01,95% CI:1.00-1.01,P=0.02) were independent risk factors for all-cause mortality of diabetic patients.Conclusions Long-term survival rate was lower in diabetic PD patients than in non-diabetic PD patients.DM,age,leukocyte and triglyceride were independent risk factors of mortality in PD patients.Age and alkaline phosphatase were independent risk factors of mortality in diabetic patients.
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Objective To explore the risk factors and characteristics in patients with peritoneal dialysis who died in different periods.Methods The clinical data of new peritoneal dialysis patients in the Department of Nephrology and Peritoneal Dialysis Center of the First Affiliated Hospital of Nanchang University from November 1,2005 to February 28,2017 was retrospectively analyzed.The patients were divided into two groups according to the time of death:those who died within one year and died after one year.The risk factors of mortality between the two groups were analyzed by Cox regression model.Results A total of 997 patients were enrolled and 244 patients died.There were 69 patients (28.3%) died within one year and 175 patients (71.7%) died after one year.Cardiovascular and cerebrovascular disease was the dominating reason of death in both groups,accounting for 59.4% (died within one year group) and 51.4% (died after one year group) respectively.Cox regression analysis showed that for died within one year group,old age (HR=1.035,95% CI:1.016-1.055,P< 0.001),low blood total calcium (HR=0.167,95% CI:0.053-0.529,P=0.002),low albumin (HR=0.899,95%CI:0.856-0.943,P < 0.001) and low apolipoprotein A1 (HR=0.274,95%CI:0.095-0.789,P=0.016) were risk factors associated with mortality.However,for died after one year group,old age (HR=1.053,95%CI:1.038-1.069,P < 0.001),combined with diabetes (HR=2.181,95%CI:1.445-3.291,P < 0.001) and hypertriglyceride (HR=l.204,95%CI:1.065-1.362,P=0.003) were risk factors associated with mortality.Conclusions The risk factors of mortality for peritoneal dialysis patients of different periods were not exactly the same.For died within one year patients,old age,low blood total calcium,low albumin and low apolipoprotein A1 were independent risk factors for mortality.However,for died after one year patients,old age,combined with diabetes,and high triglycerides were independent risk factors for mortality.
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Virtual reality technology is a kind of information technology,which can achieve the interaction between the users and the virtual environment by using relevant devices.This article introduces the application and validity of virtual reality technology in surgery of orthopedics,general surgery,neurosurgery and urology surgery and surgical training.It discusses the advantages and disadvantages and development prospects of the virtual reality technology in the field of surgery and surgical training as well.
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Objective To investigate whether catestatin (bovine chromogranin A 344-364) can inhibit the biofilm formation of Candida albicans and examine its relationship with the expression of adhesion gene HWP1.Methods Clinical strains and standard strain ATCC 10231 of C.albicans were studied.XTT [2,3-bis-(2-methoxy-4-nitro-5-sulfophenyl)-2H-tetrazolium-5-carboxanilide] method was used to assess the ability of C.albicans biofilm formation.Antifungal activity against planktonic Candida ceils was evaluated in terms of minimum inhibitory concentrations (MICs) according to the description in CLSI-M27-A3.XTT assay and colony count were used to assess the effect of catestatin on inhibiting C.albicans biofilm formation.The lowest concentration showing 50 % inhibition on biofilm formation (BIC50) was decided by calculating the metabolic activity.The adhesion of C.albicans reduced by catestatin was visualized under an inverted microscope and quantified by colony count.The expression of HWP1 was analyzed by RT-PCR.One-way analysis of variance (ANOVA) and Dunnett's T3 test were used to compare the results.Results Clinical strains and standard strain ATCC 10231 of C.albicans showed strong ability in forming biofilm.Catestatin exhibited MICs ranging from 40 μmol/L to 80 μmol/L against planktonic C.albicans cells,and BIC50 of 80-160 μmol/L in inhibiting C.albicans biofilm formation.Catestatin reduced the adhesion of C.albicans.The colony forming unit (CFU) was 27 822.22-±-2 472.74 in blank control group,while the CFU was 5 355.55± 1 264.03,11 377.78±2 232.58,17 488.89±1 136.27,22 377.78±3 521.99,and 26 044.44±1 329.57 in the presence of 160,80,40,20,and 10 μmol/L catestatin,respectively (F=147.018,P=0.001).The difference between control group and 160,80,and 40 μmol/L catestatin was statistically significant (P<0.05).RT-PCR found the expression of HWP1 in the presence of 160 μmol/L catestatin was about 12.24% of that in blank control group.Conclusions Catestatin can effectively prevent C.albicans biofilm formation.This effect may be related to the down-regulated expression of adhesion gene HWP1 by catestatin,which results in reduced adhesion of C.albicans.Promising clinical prospect is expected for this finding.
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Objective To summarize and investigate the lethal factor of acute obstructive suppurative cholangitis (AOSC).Methods The clinical data of 56 patients with AOSC were retrospectively analyzed.Results Six cases died,5 cases with acidosis,5 cases with thrombocytopenia and 5 cases with temperature change obviously,4 cases with heart,lung and kidney disease or diabetes,5 cases with operation and operation time ≥ 150 min,5 cases with from onset to treatment time ≥72 h.Eighteen cases of elderly patients ≥70 years old,4 cases died.The patients whose age≥70 years,temperature ≥39 ℃ or < 36 ℃,combined with acidosis,platelet counts ≤6.0 × 1012/L,with heart,lung,kidney diease or diabetes,time of anesthesia and operation ≥ 150 min and from onset to treatment time ≥72 h had higher death rate (P < 0.05).Conclusion Age,obvious temperature abnormalities,significantly platelet decrease,with heart,lung,kidney diease or diabetes,acidosis,long time of anesthesia and operation and from onset to treatment time ≥ 72 h are the lethal factor of AOSC.
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OBJECTIVE@#To explore the protective effect of calcium channel agonist BayK8644 preconditioning on the lungs against ischemia-reperfusion injury (I/R) and its mechanism in rabbits.@*METHODS@#Forty rabbits were randomly divided into 4 groups (10 in each group): a sham-operated group (Sham), an I/R group (I/R), an ischemic preconditioning (IP) group (IP), and a BayK8644 preconditioning group(BayK8644).The wet to dry weight (W/D) ratio, superoxide dismutase (SOD) activity, myleoperoxidase (MPO), and malondialdehyde (MDA) contents of the lung tissues were measured after the operation. Morphological and ultrastructural changes of the lung tissue were observed by light and electron microscope. The expression of pulmonary surfactant-associated protein-A (SP-A) was examined with immunohistochemistry.@*RESULTS@#The W/D ratio, MPO and MDA contents of the lung tissue in the BayK8644 group and IP group were significantly lower than those in the I/R group (P0.05).@*CONCLUSION@#Appropriate BayK8644 preconditioning can induce transient Ca²+ influx, and elicit strong protection against the lung ischemia-reperfusion injury, which can simulate the endogenous protective effect of ischemic preconditioning.
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Animals , Female , Male , Rabbits , 3-Pyridinecarboxylic acid, 1,4-dihydro-2,6-dimethyl-5-nitro-4-(2-(trifluoromethyl)phenyl)-, Methyl ester , Pharmacology , Calcium Channel Agonists , Pharmacology , Ischemic Preconditioning , Methods , Lung , Random Allocation , Reperfusion InjuryABSTRACT
Objective To explore the ultrasonographical characteristics of placental abruption, especially the light placental abruption that was diagnosed by color Doppler ultrasonic combining with enhancement Doppler E-flow imaging, providing diagnosis data for clinical treatment. Methods With color Doppler ultrasonic and enhancement Doppler E-flow imaging, an analysis was made on the ultrasonography and clinical result of 50 patients with heavy placental abruption and 23 patients with light placental abruption. Results The diagnosis and clinical treatment of 50 patients with heavy placental abruption who had been diagnosed by color Doppler ultrasonic combining with enhancement Doppler E-flow imaging were in conformity with the postnatal pathological diagnosis. The coincidence rate in diagnosis was 100%. Of 23 patients with light placental abruption who had been diagnosed by color Doppler ultrasonic combining with enhancement E-flow Doppler imaging, 19 cases' diagnosis and clinical treatment were in accordance with their postnatal pathological diagnosis and the coincidence rate was 83%, 4 cases were misdiagnosis and missed diagnosis. Of 73 patients with placental abruption, 60 cases were carried out caesarean birth and 13 cases performed natural labor. Conclusion The enhancement Doppler E-flow imaging combining with color Doppler ultrasonic can accurately diagnose the heavy placental abruption and also provide a new method for the diagnosis of light placental abruption and perform a dynamic monitoring for the treatment transfer result of it.
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Objective To explore the application of high-frequency color Doppler in the diagnosis of infant intussusception and the selection of reduction mode according tO the hemodynamic situations of intussusception intestine tube and blood vessel in mesentery.Methods A total of 377 cases of doubtful intussusception infants wete checked by high-frequency color Doppler.After they had been diagnosed,the hemodynamic situations of intussuscepiton intestine tube and blood vessel in mesentery were carefully observed and the ultra-sound had 3 types and then the hydrostatic enema reduction was chosen as treatment method.Results A total of 263 cases was diagnosed by highfrequency colot Doppler with rate of coincidence of 100%.Among them are 253 successful cases reduced by hydrostatic enema.The successful rate of reduction was 96.2%and the 10 failed cases were changed to be treated bv operation.The intestinal wall of intussusception tube in failure group had serious dropsy without blood flow shown.Conclusions It is accurate that the infant intussusception is diagnosed by high-frequency color Doppler.According to the hemodynamic situations of intussusceptin intestine tube and blood vessel in mesentery,the infant intussusception can be divided into 3 types as follows:type Ⅰ:the blood signal of intestinal tube and wall is up or normal,which shall be reduced by hydrostatic enema;type Ⅱ:the blood signal of intestinal tube and wall is small with high obstruction index,which shall be reduced by hydrostatic enema as possible as it can;type Ⅲ:the intestinal wall has serious dropsy with rather high obstruction index and without blood flow shown,in which the hydrostatic enema redHetion shall bebanned and the operation shall be carried out as soon as possible.
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Objective:To observe the accuracy of electronic method(EM), handing method(HM) and X-raying method(X-RM) in measuring root canal working length. Methods:Total 31 root canal in vivo were measured with HM, X-RM and EM(by the electronic apical locators-Root ZX and Raypex-5 respectively), and the data were compared with the actual root canal working lengths which were obtained from the sectional view's constrictions of the extracted teeth by magnifying glass. Results:Accuracy of working length measured by Raypex-5 was 93.55%, Root ZX was 87.10%, HM was 35.48%, and X-RM was 48.39%. Significantly statistical differences (P
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Combined with practical experience, a stock investigation method of medicinal plants is approached from different angles, such as setting up the sample field and quadrant, doing the fieldwork, calculating the stock and annual possible gathering volume, etc. Depending on the geographical distribution features of the plants, the sample field are pointed out on topographic maps (1: 50 00 or 1: 10 000). Quadrants are set up at random or regularly according to the species and density of the plants. The locat ion, area, slop orientation, gradient,elevation, and vegetation of the sample field, also the area of quadrant and the amount of plants investigated, should be carefully noted down during the fieldwork .The quadrants are classified according to their slop orientation and gradient, then convert the recorded amonut of plants in quadrants to the amount of plants per square kilornetre. The stock of Per square kilometre is equal to the volume of the amount of the plants in per square kilometre divided by the amount of the plants per kilogram. The stock of per square kilometre multiplied by the area of earth's surface is the stock volume, which should be classified by the slop orientaion and gradient. The sum of the volunes is the total stock of a kind of plant.As to gather and make use of the medicinal plants in a gathering circle period, the annul possible gathering volume should be calculated as the stock volume of the plant divided by the gathering circle period.