Neonatal inherited metabolic diseases are a group of metabolic disorders caused by singe gene defect to cause a series of clinical symptoms.Neonatal dried blood spots have the advantages of simple preparation,safety,good stability,and show strong practicability in different screening methods for inherited metabolic diseases.With the development of screening methods,more and more diseases could be diagnosed by screening.The emergence of tandem mass spectrometry and molecular biological techniques promote the newborn screening and automation for inherited metabolic disease effectively.Inherited metabolic diseases induce great harm to the newborn,which could cause not only system organs damage,but also lead to death.Therefore,early screening is important for patients' prognosis.

Objective To evaluate the clinical practicality of two different D-dimer assays by studying the correlation of the testing results by two different D-dimer reagents with fibrin degradation products (FDP)result values and analyzing the Clinical alignment.Methods A representative cross-sectional study of 762 clinical patients’plasma specimens were taken to measure the results of D-dimer and FDP by using Sysmex CA-1500 automated coagulation analyzer,D-DIMER detection rea-gent respectively Siemens Innovance D-DIMER and Dade Behring D-DIMER Plus reagents.Then rating frequency analysis and Spearman correlation test were applied to analyze the correlation of measurement results.Results Overall,to the same patient,the correlation of D-dimer tested by Siemens Innovance D-DIMER Reagent with FDP level was significant positive (r= 0.954,P<0.01),better than that tested by Siemens DD Plus Reagent (r=0.885,P<0.01);and this correlation had an increasing trend when D-dimer level raised.When D-dimer level > 5 mg/L FEU,the correlation was the best (P<0.01). And by calculating the amount of positive FDP (FDP>5μg/ml)and FDP positive rate in both different cases when D-dimer results was also positive,FDP positive rate in Innovance D-DIMER Reagent group (about 65.76%)was lower than DD Plus Reagent group,it indicated that D-dimer results tested by Innovance D-DIMER Reagent could raise before FDP reacted,so D-dimer had a higher sensitivity than FDP.Conclusion It can provide a more precise clinical diagnosis and treatment infor-mation when using Siemens Innovance D-DIMER Reagent to detect D-dimer values and combined FDP values at the same time.

Objective To study the correlation of mitochondrial DNA mutation of spermatozoa and change of mitochondria-ultrastructure with male infertility. Methods The techniques of PCR and DNA sequence analysis were used to detect MTCYB and MTATP-6 fragments of 76 samples of semen with poor motility from infertile male.Of these samples five were identified with mitochondrial DNA deletion and transmission electron microscopic observations were made. Results Under the electron microscopic observations the 5 samples were all seen with abnormal volume of mitochondria in most spermatozoa tails either small or big, disorderly located and asymmetrically distributed;the axonemal structures of sperm wrapped in layers of mitochondria. These samples of sperm were noticeably different in form from those from fertile male. Conclusion Sperm mitochondria-ultrastructure change were observed in samples of sperm mitochondrial DNA mutation.Sperm mitochondrial mutation and its mitochondria-ultrastructure affect the energy supply of sperms during the process of fertilization which may result in male infertility.;

Objective To investigate the efficacy,adverse effect and the incidence of cardiovascular and cerebrovascular events by comparative study on simvastatin combined with ezetimibe on therapy of lowing blood lipids in metabolic syndrome patients.Methods One hundred and twenty metabolic syndrome patients were divided into experiment group (n=60) and control group (n=60).The experiment group was treated with 20 mg of simvastatin associated 10 mg of ezetimibe daily.The control group was treated with conventional-dose 20 mg of simvastatin.The period of treatment was 4 years in both groups.The efficacy,adverse effect and the occurrence of cardiovascular and cerebrovascular events were observed and analyzed.Results Blood lipid were significantly decreased in both groups after the treatment.There was significant difference on total cholesterol ( TC ) [ ( 3.05±1.17 ) mmol/L vs (4.94 ± 1.13 ) mmol/L,P ＜ 0.05 ],low density lipoprotein cholesterol ( LDLC) [ (2.12±1.03) mmol/L vs (3.16 ± 1.11 ) mmol/L,P ＜0.05] and triglyceride(TC) (1.02±0.29) mmol/Lvs (1.65 ± 0.32)mmol/L,P ＜ 0.05 ) between experiment group and control group.There were 3 cases of cardiovascular events in experiment group and 10 cases in control group,5 cases of cerebrovascular events in experiment group and 13 cases in control group.The incidence of cardiovascular and cerebrovascular in experiment group was significantly lower than that in control group (x2 =4.08 and 4.37,respectively,P ＜ 0.05 ).Conclusion Combination therapy with simvastatin and ezetimibe is more effective and it can significantly decrease the incidence of cardiovascular and cerebrovascular events in metabolic syndrome patients.

Objective Radiation can cause multiple damages to tissues and organs.This study aimed to explore the protec-tive effect of Ganoderma lucidum polysaccharides ( GLPs) against the 60 Co-γray radiation injury in mice and provide an experimental basis for the clinical use of GLPs. Methods One hundred mice were randomly divided into five groups of equal number: normal control, gavage control, radiation control, high-dose GLPs, and low-dose GLPs.Models of radiation injury were made in the mice by whole-body exposure to 60 Co-γrays.Three days before and after mod-eling, the animals in the high-dose and low-dose GLPs groups were given GLPs intragastrically at the dose of 100 and 50 mg/kg respec-tively, once daily for 14 days.Then the 30 day survival rate and sur-vival time of the model mice were recorded and the changes in the pe-ripheral blood index, spleen index, and serum superoxide dismutase( SOD) activity were observed. Results GLPs significantly increased the 30-day survival rate and the mean survival time of the mouse models (P<0.05), decreased the reduction of WBC count in the peripheral blood, and shortened the time of WBC restoration ( P<0.05 ) .Furthermore, GLPs obviously improved the spleen index and SOD activity of the Co-γray irradiated animals. Conclusion GLPs, with a significant anti-radiation effect, can effectively raise the survival rate of the mice exposed to a lethal dose of 60 Co-γrays, reduce radiation injury to WBC and platelets, and increase the activity of SOD in irradiated mice.

Breast Neoplasms ; metabolism ; pathology ; Cell Proliferation ; Female ; Humans ; Neoplasm Proteins ; metabolism

OBJECTIVETo isolate and characterize endophytic fungi from seven Dendrobium species, and detect their antimicrobial activities.

METHODFungal endophytes were isolated by strictly sterile sample preparation and fungal identification methods were based on their ITS ribosomal DNA (ITS rDNA gene) sequences. The agar well diffusion method was then employed to evaluate the antimicrobial activity against six pathogenic organisms and the phylogenetic tree of active isolates was constructed by the MEGA.

RESULTNinety-eight endophytic fungi obtained from seven Dendrobium spp., and among them twenty-four isolates, representing 11 genera and 14 species, displayed anti-microbial activities. The phylogenetic assay based on ITS-rDNA showed that 24 active isolates were sorted to 7 taxonomic orders: Hypocreales, Sordariales, Capnodiales, Eurotiales, Botryosphaeriales, Xylariales and Mucorales. The results of antimicrobial activity assay revealed that 1.02%, 10.2%, 18.4%, 1.02%, 1.02% and 10.2% of fermentation broths of 98 isolates displayed significant antimicrobial activities against E. coli, B. subtilis, S. aureus, C. albicans, C. neoformans and A. fumigatus, respectively. Four strains DL-R-3, DL-S-6, DG-R-10 and DN-S-1 displayed strong and broad antimicrobial spectrum.

CONCLUSIONEndophytic fungi associated with Dendrobium species have fungal diversity, and possess diverse antimicrobial activity.

Anti-Infective Agents ; metabolism ; pharmacology ; Aspergillus fumigatus ; drug effects ; Bacillus subtilis ; drug effects ; Base Sequence ; Biodiversity ; Candida albicans ; drug effects ; China ; Cryptococcus neoformans ; drug effects ; DNA, Fungal ; chemistry ; isolation & purification ; DNA, Ribosomal Spacer ; chemistry ; genetics ; Dendrobium ; microbiology ; physiology ; Endophytes ; classification ; genetics ; isolation & purification ; physiology ; Escherichia coli ; drug effects ; Fungi ; classification ; genetics ; isolation & purification ; physiology ; Microbial Sensitivity Tests ; Molecular Sequence Data ; Phylogeny ; Plant Roots ; microbiology ; physiology ; Plant Stems ; microbiology ; physiology ; Sequence Alignment ; Sequence Analysis, DNA ; Staphylococcus aureus ; drug effects

OBJECTIVETo detect the anti-FSH antibody using ELISA, and further probe into the role of anti-FSH in infertile patients.

METHODSThe anti-FSH antibody was detected using ELISA in the serum of patients with spermatogenesis dysfunction, of infertile patients with normal sperm density and motility, and of normal fertile males.

RESULTSThe positive rate of anti-FSH antibody in the patients with oligospermia and/or asthenospermia [22.4% (22/98)] was significantly higher than that in the normal fertile [4% (2/50)] (P < 0.05) and that in the infertile patients with normal sperm density and motility [6.7% (2/30)] (P < 0.05). The positive rate of anti-FSH antibody in the patients with oligospermia and/or asthenospermia was lower than that in the patients with azoospermia [54.5% (12/22)] (P < 0.05). There was no significant difference in the positive rate between the normal control and the sterile males with normal sperm density and motility.

CONCLUSIONThe anti-FSH antibody may be an important factor to cause spermatogenesis dysfunction by combining FSH to form immune compound and depress the activation of FSH.

Antibodies ; blood ; Follicle Stimulating Hormone ; immunology ; Humans ; Infertility, Male ; etiology ; immunology ; Male ; Spermatogenesis

Objective To detect the plasma concentration of fluorouracil in patients with advanced colorectal cancer who uesd fluorouracil , and to explore the relationship between chemotherapy efficacy , tumor response, toxicity and survival of patients with advanced colorectal cancer after chemotherapy with fluorouracil.Methods 174 patients with advanced colorectal cancer were collected from the General Hospital of Ningxia Medical University from January 2014 to December 2016.Patients with advanced colorectal cancer were treated with FOLFOX scheme , venous blood was taken from patients 18-24 hours after intravenous infusion of fluorouracil .The concentration of 5-FU in blood was measured by nami-enhanced immune assay.The targeted AUC range of 5-FU was 20-30 mg· h/L.The patients were divied into three groups-targeted range group , lower than the targeted range group and higher than the targeted range group . The therapeutic efficacy, toxicity and survival of patients were recorded , in order to observe the difference of different target range groups.To analyze the correlation between the different target groups and the clinical characteristics,a logistic method was used.Chi-square test was used to compare the efficacy and toxicity of the three groups.The survival curves were plotted by kaplan-meier method. Results To detected the concentration of fluorouracil at the same time after infusion of fluorouracil .The AUC was 2.267-31.06 mg· h/L,it was very different, the median AUC was 15.368 mg· h/L, and the highest AUC was 31.06 mg· h/L,it was 13.7 times that of the lowest blood concentration (2.267 mg· h/L) .The relationship between the concentration of fluorouracil and the clinical indicators was found as follows :(1)Clinical characteristics : the blood concentration of 5-Fu after infusion was different , which was related to the preoperative CEA status (r＝0.318,P＜0.05), EGFR(r＝0.558,P＜0.05), Lymph node metastasis status(r＝0.325,P＜0.05), and the number of metastatic organs ( r＝0.404, P＜0.05 ) .( 2 ) Effect of chemotherapy : There were significant differences in the effect of chemotherapy between different target groups (χ2＝6.78,P＜0.05). The effect of chemotherapy in the targeted range group was lower than that in the target range group , and the difference has statistically significant(χ2＝2.030,P＜0.05).(3)toxicity: there have statistical difference among the three groups,the toxicity of higher targeted range group was higher than the other two groups (χ2＝2.01,P＜0.05).(4)Survival: The survival time of patients with targeted range group was lower than that of targeted range group, and the difference has statistically significant (χ2＝7.263,P＜0.05).Conclusion The method of testing the concentration of fluorouracil in patients with advanced colorectal cancer is valuable to predict the efficacy , toxicity and prognosis of patients with colorectal cancer.

Objective:To investigate the correlation between circulating tumor cell (CTC) detection, RAS/RAF gene mutation and clinicopathological characteristics in patients with colorectal cancer (CRC).Methods:The Amplification Refractory Mutation System (ARMS)-polymerase chain reaction (PCR) were used to detect the gene mutation in the tumor tissues of 138 CRC patients in the Third Affiliated Hospital of Sun Yat-sen University from May 2017 to May 2020. At the same time, the venous blood of 138 patients was collected and enriched for CTC genotyping by mRNA in situ hybridization. The correlation between CTC, RAS/RAF gene mutation and clinicopathological features of CRC patients was analyzed.Results:The mutation rates of KRAS, NRAS and BRAF genes were 48.6%(67/138), 5.1%(7/138) and 1.4%(2/138), respectively; The overall positive rate of CTC was 84.1%(116/138). The positive rates of different CTC types were: 23.1%(32/138) in epithelial type, 71.7%(99/138) in mixed type and 12.3%(17/138) in interstitial type respectively. The positive rate of CTC in CRC patients with clinical stage Ⅲ-Ⅳ, lymph node metastasis (N1-N3) and distant metastasis (M1) was significantly higher than that in CRC patients with stage Ⅰ-Ⅱ, no lymph node metastasis (N0) and no distant metastasis (M0) (all P<0.05). The total number of CTC, mixed CTC and interstitial CTC were positively correlated with clinical stage, lymph node metastasis and distant metastasis (all P<0.05). RAS/RAF gene mutation, gender, age, tumor location and tumor differentiation did not affect the positive rate of CTC (all P>0.05). Conclusions:The results of CTC typing are of great research significance for comprehensive treatment, prognosis assessment and stratified management of CRC, among which the interstitial type of CTC may be a high risk factor for the recurrence and metastasis of CRC.