Objective:To evaluate the clinical value of prenatal molecular diagnostic technology in preventing hereditary diseases through analysis of prenatal diagnostic characteristics in 22 monogenic skeletal disorders pedigrees.Methods:This study retrospectively analyzed prenatal molecular diagnostic results of 22 pedigrees with monogenic skeletal disorders who were admitted to Department of Osteoporosis and Bone Diseases in our hospital from January 2014 to July 2021.Results:Among 22 pedigrees, there were 10 pedigrees with X-linked hypophosphatemic rickets due to PHEX gene mutations, in which 8 fetuses were found to carry pathogenic variants; 6 pedigrees with osteopetrosis, including 3 cases of CLCN7 gene mutation, 2 TCIRG1 gene mutation, and 1 CTSK gene mutation, were detected to have 2 affected fetuses and 1 carrier. There were 4 cases of osteogenesis imperfecta, including 2 cases of COL1A1 gene mutation, 1 case of COL1A2 gene mutation, and 1 case of SERPINF1 gene mutation, in which 1 affected fetus and 1 carrier were found; only one case of osteoarthritis with mild chondrodysplasia caused by COL2A1 gene mutation was found to harbor pathogenic variant in fetus; 1 case of hypophosphatasia due to ALPL gene mutation was not detected to carry pathogenic variant in fetus. By the time of follow-up, all 12 affected fetuses were terminated, and the remaining 10 fetuses except for one case still in pregnancy were born in good condition.Conclusion:Prenatal molecular diagnosis may confirm whether the fetus carries pathogenic variants at the first and second trimesters. For monogenic skeletal disorders that comply with Mendel′s law of separation, prenatal diagnosis can be determined by calculating the probability of recurrence of offspring. In addition, for families with de novo mutations in the offspring, it is necessary to pay attention to whether there are mosaic mutations in the parents.

OBJECTIVE：To evaluate th e effectiveness ，safety and economy of albu min-bound paclitaxel （nab-PTX）in the treatment of breast cancer by using rapid health technology assessment （HTA），and to provide evidence-based reference for drug selection. METHODS ：Retrieved from PubMed ，the Cochrane Library ，CNKI，Wangfang database and other databases ，systematic evaluation/Meta-analysis，HTA and pharmacoeconomic studies about nab-PTX in the treatment of breast cancer were included ；the conclusions were classified and analyzed by using descriptive analysis. RESULTS ：A total of 5 systematic reviews/Meta-analysis ， 8 pharmacoeconomic studies were included in this study. Compared with conventional taxanes ，nab-PTX increased pathological complete response （pCR）rate [OR ＝1.39，95％CI（1.16，1.67），P＜0.001] and event-free survival （EFS）[HR＝0.69，95％CI（0.57， 0.85），P＜0.001] in neoadjuvant chemotherapy （NAC）-treated breast cancer patients. However ，there were no significant differences in overall survival （OS），progression-free survival （PFS），objective response rate （ORR）and disease control rate （DCR）in metastatic breast cancer （MBC）patients between 2 groups. In the terms of safety ，nab-PTX increased the incidence of grade 3-4 sensory neuropathy [OR ＝1.89，95％CI（1.36，2.61），P＜0.001] in MBC patients ，and increased the incidence of neutropenia [OR ＝ 1.52，95％CI（1.23，1.88，P＜0.001]，sensory neuropathy [OR ＝ 2.17，95％CI（1.38，3.40），P＜0.001]，rash [OR ＝1.46，95％CI mei1213@163.com （1.18，1.80），P＜0.001] and fatigue [OR ＝1.28，95％CI（1.04， 1.56）， P＝0.02] in NAC -treated breast cancer patients.Pharmacoeconomic studies showed that nab-PTX could improve the quality adjusted lif e years of MBC patients compared with traditional taxanes ，and it was a economical option. CONCLUSIONS：Nab-PTX enhances pCR in NAC-treated breast cancer patients ，but has no significant advantage in the effectiveness of MBC patients ，and increases the occurrence of ADR. Nab-PTX may have a cost-utility advantage over conventional taxanes for MBC.

Objective: To evaluate the nursing workload in surgical departments by decision tree method. Methods: The indexes of nursing workload of 23 surgical departments were analyzed with decision tree method from February 20 to March 26 in 2017. Results: According to decision tree analysis, the number of admitted patients was high-priority variable (F=39.128, P=0.000), and the nursing workload was divided into four grades by number of admitted patients ≤ 1, 17, respectively. The suboptimal variables were number of operations (F=7.578, P=0.046) and number of electrocardiogram monitors used (F=28.306, P=0.000), the nursing workload was further divided into six grades by number of operations ≤ 5, number of operations>5 and number of electrocardiogram monitors use ≤ 5, number of electrocardiogram monitors use > 5, respectively. Conclusions The number of admitted patients, electrocardiogram monitors used and operative patients were significant indexes of nursing workload in surgical departments, which helps the nurse managers evaluate the nurse performance and optimize human resource allocation based on decision tree analysis and clinical practice.

OBJECTIVETo explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome.

METHODS607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed.

RESULTSAmong the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome.

CONCLUSIONGenerally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

Abortion, Spontaneous ; genetics ; Adolescent ; Adult ; Amenorrhea ; genetics ; Child ; Child, Preschool ; Chromosomes, Human, X ; genetics ; Cytogenetic Analysis ; methods ; Female ; Humans ; Infant ; Infant, Newborn ; Karyotyping ; Middle Aged ; Mosaicism ; Pregnancy ; Sex Chromosome Aberrations ; Turner Syndrome ; genetics ; pathology ; Young Adult

OBJECTIVE:To establish a method for the simultaneous determination of syringinand and pedunculoside in Zhuang medicine Yuyang powder. METHODS:HPLC was performed on the column of Agilent ODS with mobile phase of acetonitrile-water (gradient elution)at a flow rate of 1 ml/min,the detection wavelength was 210 nm,the column temperature was 30℃,and the in-jection volume was 5μl. RESULTS:The linear range was 0.71-3.55μg for syringin(r=0.999 7)and 1.62-8.10μg for pedunculoside (r=0.999 8), respectively;RSDs of precision, stability and reproducibility tests were lower than 3%;recoveries were 100.8%-104.9%(RSD=1.7%,n=6) and 96.0%-100.8%(RSD=2.2%,n=6). CONCLUSIONS:The method is simple,stable and reproducible,and can be used for the simultaneous determination of syringinand and pedunculoside in Zhuang medicine Yuyang powder.

BACKGROUND:Stem cel transplantation has achieved good results in the treatment of cerebral ischemia, and how to reduce apoptosis of transplanted cel s has become the focus of the therapy.
OBJECTIVE:To investigate the injured effect of tumor necrosis factor alpha (TNF-α) on bone marrow mesenchymal stem cel s and its mechanism.
METHODS:Primary cultured bone marrow mesenchymal stem cel s from Sprague-Dawley rats were treated with 200μg/L TNF-αfor 6 hours. Cel vitality was assayed by MTT, and cel apoptosis was observed by Hoechst33342 staining. Apoptotic rate was detected by Annexin-V/PI double staining. Level of oxidative stress was evaluated by determination of malondialdehyde and superoxide dismutase levels. The protein expressions of phosphorylated-Akt, Akt, phosphorylated-FoxO1, FoxO1 were detected by western blot analysis.
RESULTS AND CONCLUSION:After treatment with TNF-α, the cel vitality of bone marrow mesenchymal stem cel s decreased, the apoptotic rate increased, and the cel s were arrested in the S phase. Moreover, the oxidative stress level was elevated, and the protein expression of phosphorylated-Akt and phosphorylated-FoxO1 was significantly reduced compared with the control group (P<0.05). These results suggest that TNF-αat high level contributes to the S-stage arrest, responsible for the apoptosis processes of bone marrow mesenchymal stem cel s via the Akt-FoxO1 pathway.

ObjectiveTo examine the clinical features of fractures and related risk factors in patients with rheumatoid arthritis(RA) in China.MethodsSix hundred and eighty-one RA patients were randomly selected from department of rheumatology of 18 hospitals of China.Data were obtained from the questionnaire,including age,sex,disease duration,the involvement of joints,treatment regimen,features of fractures etc.The possible risk factors of fracture in patients with RA were analyzed with a multi-variate Logistic regression analysis.Results① In 681 RA patients of the survey,48 patients had 54 fractures,and the incidence of fractures was about 8％.② Fractures occurred at various sites.Foot/ankle,femur,spine and wrist were the mostfrequent sites.③ The Logistic regression analysis showed that several factors increased the risk of fracture in RA patients,including long disease duration (OR:1.245,95％CI:0.987-1.570,P=0.065),male gender(OR:0.433,95％CI:0.199-0.942,P=0.035),more deformed joints(OR:1.042,95％CI:1.006-1.079,P=0.023),family history of RA (OR:2.201,95％CI:0.984-4.923,P=0.055),and high scores of SF-36(OR:1.017,95％CI:1.002-1.033,P=0.028).④ According to the degree of correlation from strong to weak,the risk factors of fracture were disease duration,SF-36,sex,number of deformed joints and family history of rheumatoid arthritis.ConclusionThe incidence of fracture is high in patients with rheumatoid arthritis.Several factors could increase the risk of fractures in RA patients,including long disease duration,male gender,more deformed joints,and family history of RA.In order to prevent the occurrence of fractures,cautions should be taken to prevent the development of fractures and treat the disease aggressively to suppress the disease activity of RA.

Objective To describe the distribution of medication costs of rheumatoid arthritis patients, and to analyze the factors that may affect the costs. Methods Data were obtained from a 12-month retrospective investigation of patients with rheumatoid arthritis (RA) across China. Department of Rheuma-tology of 18 hospitals were randomly selected. The data about their social conditions, clinical conditions, medications associated with RA such as disease-modifying antirheumatic drugs (DMARDs), non -steroidal anti -inflammtory drugs (NSAIDs), steroids, biologic agents were collected, and the costs of drugs were calculated. A non-parameter test and multivariate logistic regression analysis were performed. Results Six hundred and forty six patients were enrolled into the study, 435 completed data were chosen for analysis. The results demonstrated that the average costs per patient for medications in the past year was 8018 . The total medication costs were further subdivided into the following parts: DMARDs, (represented 20% of the total costs), biologic drugs (49%), NSAIDs (4%), herbal drugs (22%), steroids (1%). Data analysis showed that patients with higher education and higher incomes, with medical insurance,better health function status and outpatients paid more on DMARDs. Extra-articular manifestations increased the odds of the high-cost group (OR: 2.180, 95%CI: 1.335～3.558, P=0.002), while poor health function status increased the probability of paying high costs (OR: 1.373, 95%CI: 1.012～1.863, P=0.041). Conclusion High medication costs in RA do exist in RA patients. The costs of medication is associated with health function status and the presence of extra-articular manifestations.

Objective: To investigate the effects of extract of Bulbus Allii Caespitosi on cardiocyte viability of swines with myocardial reperfusion injury by analyzing the 18F-fluorodeoxyglucose ((18)F-FDG) position emission tomography (PET) imaging. Methods: Twenty-four swines were randomly divided into sham-operated group, untreated group, trimethazine group and extract of Bulbus Allii Caespitosi group. Myocardial reperfusion injury was induced by plugging the anterior descending coronary artery of swine with sacculus. Bulbus Allii Caespitosi or trimetazidine was given twice daily for 28 days. Then myocardial perfusion was detected with (18)F-FDG PET/CT and the radioactivity distribution was evaluated. Results: Compared with the untreated group, Bulbus Allii Caespitosi and trimetazidine could improve the activity of myocardial cells after myocardial infarction (P<0.01), and there were no significant differences between Bulbus Allii Caespitosi and trimetazidine (P>0.05). Conclusion: Bulbus Allii Caespitosi can improve myocardial metabolism after ischemia and reperfusion in swines.

This study was designed to investigate the changes of prostaglandin I2 (PGI2) and nitric oxide (NO) secreted by endothelialized polyurethane small diameter artificial blood vessel. The peripheral blood mononuclear cells of healthy adult were separated and induced into endothelial progenitor cells (EPCs), which were identified by the methods of discrepancy microphage and fluorescent immunology labeling. After the induced cells being seeded on the polyurethane small-diameter artificial vessels, the endothelialized polyurethane small diameter artificial blood vessels were divided into four different experimental groups, including stationary group, low-flow shear stress group (5 dynes/cm2), medium-flow shearstress group (15 dynes/cm2), and high-flow shear stress group (25 dynes/cm2). Then, the levels of 6-ketoprostaglandin F1alpha (6-keto-PGF1alpha) and NO of different time were measured by enzyme-linked immunosorbent assay and nitrate reductase methods. The peripheral blood mononuclear cells differentiated into EPCs. They presented typical "spindie-shaped" appearance, and they were positively labeled by fluorescent acetylated-LDL, lectin, FLK-1 and vWF. Shear stress enhanced the production of NO and 6-keto-PGF1alpha by EPCs in a dose-dependent manner. Therefore, shear stress increases the secretion of NO and PGI2 by EPC, which suggests that shear stress can improve the antithrombogenic potentials of endothelialized polyurethane small diameter artificial blood vessel.
Bioartificial Organs ; Biocompatible Materials ; chemistry ; Blood Vessel Prosthesis ; Cell Adhesion ; Cell Differentiation ; Cells, Cultured ; Endothelial Cells ; cytology ; metabolism ; Epoprostenol ; metabolism ; Fibrinolytic Agents ; metabolism ; Humans ; In Vitro Techniques ; Leukocytes, Mononuclear ; cytology ; Nitric Oxide ; metabolism ; Polyurethanes ; chemistry ; Stress, Mechanical