ABSTRACT
Objective: To analyze the report content, the methods and results of prenatal diagnosis of high risk of sex chromosome aneuploidy (SCA) in non-invasive prenatal testing (NIPT). Methods: A total of 227 single pregnancy pregnant women who received genetic counseling and invasive prenatal diagnosis at Drum Tower Hospital Affiliated to the Medical School of Nanjing University from January 2015 to April 2022 due to the high risk of SCA suggested by NIPT were collected. The methods and results of prenatal diagnosis were retrospectively analyzed, and the results of chromosome karyotype analysis and chromosome microarray analysis (CMA) were compared. The relationship between NIPT screening and invasive prenatal diagnosis was analyzed. Results: (1) Prenatal diagnosis methods for 277 SCA high risk pregnant women included 73 cases of karyotyping, 41 cases of CMA and 163 cases of karyotyping combined with CMA, of which one case conducted amniocentesis secondly for further fluorescence in situ hybridization (FISH) testing. Results of invasive prenatal diagnosis were normal in 166 cases (59.9%, 166/277), and the abnormal results including one case of 45,X (0.4%, 1/277), 18 cases of 47,XXX (6.5%, 18/277), 36 cases of 47,XXY (13.0%, 36/277), 20 cases of 47,XYY (7.2%, 20/277), 1 case of 48,XXXX (0.4%, 1/277), 20 cases of mosaic SCA (7.2%, 20/277), 5 cases of sex chromosome structural abnormality or large segment abnormality (1.8%, 5/277), and 10 cases of other abnormalities [3.6%, 10/277; including 9 cases of copy number variation (CNV) and 1 case of balanced translocation]. Positive predictive value (PPV) for SCA screening by NIPT was 34.7% (96/277). (2) Among the 163 cases tested by karyotyping combined with CMA, 11 cases (6.7%, 11/163) showed inconsistent results by both methods, including 5 cases of mosaic SCA, 1 case of additional balanced translocation detected by karyotyping and 5 cases of additional CNV detected by CMA. (3) NIPT screening reports included 149 cases of "sex chromosome aneuploidy"(53.8%, 149/277), 54 cases of "number of sex chromosome increased" (19.5%, 54/277), and 74 cases of "number of sex chromosome or X chromosome decreased" (26.7%, 74/277). The PPV of "number of sex chromosome increased" and "number of sex chromosome or X chromosome decreased" were 72.2% (39/54) and 18.9% (14/74), respectively, and the difference was statistically significant (χ2=34.56, P<0.01). Conclusions: NIPT could be served as an important prenatal screening technique of SCA, especially for trisomy and mosaicism, but the PPV is comparatively low. More information of NIPT such as the specific SCA or maternal SCA might help improving the confidence of genetic counseling and thus guide clinic management. Multi technology platforms including karyotyping, CMA and FISH could be considered in the diagnosis of high risk of SCA by NIPT.
Subject(s)
Female , Pregnancy , Humans , Retrospective Studies , DNA Copy Number Variations , In Situ Hybridization, Fluorescence , Aneuploidy , Prenatal Diagnosis/methods , Sex Chromosome Aberrations , Sex Chromosomes/geneticsABSTRACT
To explore the correlation between color of Glycyrrhiza uralensis and its quality evaluation,the colors of root bark and transverse section were determined by Precision Color Reader and Visual Analyzer,and the contents of six flavonoids and two saponins in G.uralensis were determined by high performance liquid chromatography(HPLC).The partial least squares regression(PLSR)method was employed to correlate the colors with component contents in G.uralensis. The results showed that there were no significant differences in the colors of root bark but significant or very significant differences(P<0.05,P<0.01)in the colors of transverse section between the wild and cultivated G. uralensis. Compared with those in the cultivated G. uralensis, the contents of liquiritin, isoliquiritin isoliquiritigenin and the contents of ammonium glycyrrhizinate, glycyrrhetinic acid were obviously significant or remarkably significant in the wild G. uralensis.The correlation results showed that there was a significant or very significant correlation between the colors and the effective component contents. This study provides a scientific basis to evaluate the quality of G.uralensis by color and a new reference for the traditional evaluation methods for Chinese drugs.
ABSTRACT
Objective To study the intrinsic relationship between hemiplegic gait features and abnormal muscle strength of lower limbs,so as to elucidate the muscle strength causes of hemiplegic gait and provide recommendations for its clinical treatment.Methods Models of hemiplegic gait and normal gait were established for simulation,and the validity of the models was verified by comparing the simulation model with measured data of the normal gait.The differences in kinetic data,ground reaction force (GRF) and muscle force between the two models were analyzed to explore the different dynamic characteristic of hemiplegic gait and normal gait.Results The complex correlation coefficient between LifeMOD simulation results and measured data was 0.922,indicating that the established dynamic model was reasonable and effective.Hemiplegic patient with low tibialis anterior muscle strength led to ankle dorsiflexion inadequacy during initial ground period,and low gastrocnemius muscle could not achieve the promoting effect from ground during preswing period.Conclusions The strength weakness of tibialis anterior muscle and gastrocnemius are the main reasons for foot drooping and other hemiplegic gait characteristics.LifeMOD modeling and simulation can assist the diagnosis of abnormal muscle strength in hemiplegia patients.
ABSTRACT
Objective To study the intrinsic relationship between hemiplegic gait features and abnormal muscle strength of lower limbs, so as to elucidate the muscle strength causes of hemiplegic gait and provide recommendations for its clinical treatment. Methods Models of hemiplegic gait and normal gait were established for simulation, and the validity of the models was verified by comparing the simulation model with measured data of the normal gait. The differences in kinetic data, ground reaction force (GRF) and muscle force between the two models were analyzed to explore the different dynamic characteristic of hemiplegic gait and normal gait. Results The complex correlation coefficient between LifeMOD simulation results and measured data was 0.922, indicating that the established dynamic model was reasonable and effective. Hemiplegic patient with low tibialis anterior muscle strength led to ankle dorsiflexion inadequacy during initial ground period, and low gastrocnemius muscle could not achieve the promoting effect from ground during preswing period. Conclusions The strength weakness of tibialis anterior muscle and gastrocnemius are the main reasons for foot drooping and other hemiplegic gait characteristics. LifeMOD modeling and simulation can assist the diagnosis of abnormal muscle strength in hemiplegia patients.
ABSTRACT
<p><b>OBJECTIVE</b>To explore the changes in cellular immune function and the safety of physical therapy in patients with systemic lupus erythematosus (SLE) complicated by herpes zoster (HZ) virus infection. Methods A retrospective analysis was conducted among 10 SLE pateints with HZ virus infection, with 30 SLE patients without HZ infection as the control group. The results of routine laboratory tests and T lymphocyte subset counts (before and during infection and after cure of infection) were compared between the two groups.</p><p><b>RESULTS</b>The proportion of patients with significantly increased absolute neutrophil count and white blood cell count before HZ infection, and those with decreased lymphocyte percentage and elevated C-reactive protein during infection differed significantly between the two groups (P<0.05). Before HZ infection, the proportions of patients with increased CD3%, decreased CD16CD56%, abnormal 4/8 ratio (P<0.01) and those with increased CD8% and CD8count and decreased CD16CD56count differed significantly between the two groups (P<0.05). During HZ infection, the proportion of patients with increased CD3% and CD8% and decreased CD4% and 4/8 ratio count (P<0.05) and those with decreased CD16CD56% and increased CD8count differed significantly between the two groups (P<0.01). After cure of HZ infection, the proportion of patients with decreased CD16CD56% was significantly different between the two groups (P<0.01). The treatment time of HZ infection averaged 5∓1.3 days with a cure rate of 100% postherpetic neuralgia occurred in none of the patients after the treatment.</p><p><b>CONCLUSION</b>Patients with SLE complicated by HZ infection are in an immunosuppressive state, suggesting the need of monitoring T lymphocyte subsets in SLE treatment. The combined use of antiviral drugs and physical therapy can be safe and effective for treatment of SLE complicated by HZ infection.</p>
ABSTRACT
The aim of the present study was to investigate the regulatory effects of histone methylation modifications on the expression of miR-200c, as well as invasion and migration of gastric carcinoma cells. Gastric carcinoma cell line, MGC-803, were treated by 2.5 μmol/L histone methyltransferase inhibitor, DZNep. The expression of miR-200c was detected by real-time quantitative PCR (qRT-PCR). The epithelial-mesenchymal transition (EMT) indicators (ZEB1/2 and E/N-cadherin), EZH2, EED, SUZ12 and H3K27me3 expressions were detected by Western blot. Cell migration and invasion abilities were detected by Transwell and scratch tests. The result showed that, compared with DMSO (control) group, DZNep significantly increased the expression of miR-200c to about 2.1 times, inhibited ZEB1, ZEB2, and N-cadherin expressions, and activated E-cadherin expression; Also, DZNep decreased the protein expressions of EZH2, EED, SUZ12 and H3K27me3; Moreover, DZNep could inhibit MGC-803 cell invasive and migrative abilities, as well as MMP9 expression. These results suggest DZNep raises miR-200c expression to delay the invasion and migration of gastric carcinoma cells, and the underlying mechanisms involve the regulations of EMT-related proteins and polycomb repressive complex 2.
Subject(s)
Humans , Adenosine , Pharmacology , Cadherins , Metabolism , Cell Line, Tumor , Cell Movement , Epithelial-Mesenchymal Transition , Gene Expression Regulation, Neoplastic , Homeodomain Proteins , Metabolism , MicroRNAs , Metabolism , Protein Methyltransferases , Repressor Proteins , Metabolism , Transcription Factors , Metabolism , Zinc Finger E-box Binding Homeobox 2 , Zinc Finger E-box-Binding Homeobox 1ABSTRACT
The objective of this study is to define the population dynamics of Semiaphis heraclei in the main-producing district of Lonicera japonica in Shandong, and screen for highly efficient, safety control technique. Through fixed field investigation, we tested the toxicity of eight kinds of insecticides by using dipping methods, and carried out the field experiment. The results showed that the aphids' emergence peak appeared in May. The aphids on the Sijihua variety of L. japonica was more susceptible and the peak was also seven days earlier than Damao variety of L. japonica. The aphid populations on Sijihua were 1 fold than those on the Daomao in happened peak. Comparing the eight kinds of insecticides, the LC50 of lambda-cyhaothrin, abamectin, imidacloprid and pyrethrin to wingless aphids were 1.494, 1.690, 2.840, 2.861 mg x L(-1), respectively, whose toxicity were higher, the toxicity of matrine, pymetrozine and azadirachtin were also high. The field efficacy trials indicated that during the period of aphids occurred, 25% imidacloprid wettable powder, 1.8% abamectin missible oil, 2.5% lambda-cyhaothrin missible oil, 25% pymetrozine wettable powder, 5% pyrethrin missible oil, 1% matrine water aqua were sprayed at concentrations of 20,000, 2,000, 2,500, 5,000, 500 and 50 times, respectively,the control effect achieved 91.69%, 98.90%, 96.18%, 95.06%, 99.24%, 90.10%, respectively, after 5 days. During the growing period of L. japonica in spring, application of thiamethoxam, thiacloprid, pymetrozine and imidacloprid, all of the control effect against aphids achieved above 98.88% after 50 days. The result indicated that May was the S. heraclei Takahashi's emergence peak in Pingyi, Shandong. The efficient safety and environmentally friendly insecticides by spraying and systemic insecticide of pymetrozine and imidacloprid by root application were all efficient controlled aphids. These insecticides were long for controlling S. heraclei Takahashi and worthy of being widely applied.
Subject(s)
Animals , Aphids , Physiology , Insect Control , Insecticides , Toxicity , Lonicera , Parasitology , Plant Diseases , Parasitology , Population DynamicsABSTRACT
<p><b>OBJECTIVE</b>To observe the effects of pravastatin on the proliferation and invasion of human hepatocarcinoma HepG2 cell line.</p><p><b>METHODS</b>The effects of pravastatin on the proliferation, migration and invasion of HepG2 cells was observed by MTT assay, Boyden chamber assay and motility assay. p38 activity was measured, and the expression of p-p38, MKP-1, RhoC and MMP-2 was analyzed by Western blot.</p><p><b>RESULTS</b>Pravastatin inhibited the proliferation of HepG2 cells. The intracellular p38 activity and expressions of p-p38, RhoC and MMP-2 were decreased, while MKP-1 expression was elevated in pravastatin treated cells. In addition, pravastatin inhibited the invasion and motility.</p><p><b>CONCLUSION</b>Pravastatin can inhibit the proliferation and invasion of HepG2 cells.</p>
Subject(s)
Humans , Cell Movement , Cell Proliferation , Hep G2 Cells , Matrix Metalloproteinase 2 , Metabolism , Neoplasm Invasiveness , Pravastatin , PharmacologyABSTRACT
Objectives To synthesize hepatitis B virus e gene which was suitable for yeast protein expression and express hepatitis B virus e antigen (HBeAg) in Pichia pastoris.Methods Using synonymous codons preferred by yeast usage on protein expression to replace some native codons of wild-type HBV e gene,the synthetic e gene (syneAg-gene) was achieved by a recursive PCR (rPCR).The syneAg- gene was inserted into the yeast expression vector pPICZ?A.The recombinant plasmid was transformed into GS115 yeast by electroporation.The yeast transformant induced by methanol expressed the HBeAg.Results The restriction analysis and DNA sequencing confirmed that the syneAg-gene was inserted to yeast pPICZ?A in correct orientation.SDS-PAGE,immunoblot and ELISA indicated that the secreted form of HBeAg was expressed by the yeast transformant.The expression level of HBeAg in the strain containing syneAg-gene was 63 mg/L.The titer of the recombinant HBeAg in culture superuatant was 1 :81 920 and the maximum OD (optical density) value of absorbance was 2.8 by ELISA.No cross reactivity between Pichia pastoris-derived HBeAg and anti-HBc antibody was found.Conclusion The recombinant HBeAg with high degree of specificity and immunoreactivity is expressed efficiently in Pichia pastoris.
ABSTRACT
A highly phytase-producing strain B.licheniformis LL8 was obtained by several mutagenesis of UV with B.licheniformis as starting strain.The new strain produced about two folds of phytase activity as compared with the starting strain. The production performance of the strain was stable. The cultivation conditions were optimized by single factor and orthogonal experiment. When the mutant B.licheniformis LL8 was cultivated at 55℃, initial pH 7.5 with the inoculation size of 10% for 30h in WBE medUm, the phytase activity was up to 2268.4U/mL.