Clinical application of non-invasive prenatal testing for twin pregnancies / 中华医学遗传学杂志

OBJECTIVE@#To evaluate the feasibility of non-invasive prenatal testing (NIPT) for the screening of fetal chromosome aneuploidies in twin pregnancies.@*METHODS@#A total of 2 745 women with twin-pregnancies were subjected for NIPT screening. Chromosomal karyotyping and chromosomal microarray analysis (CMA) were carried out on amniotic fluid samples from those with a high risk for fetal chromosome aneuploidies, and the diagnosis and pregnancy outcome were followed up. The sensitivity, specificity, positive predictive value and false positive rate of the NIPT were calculated.@*RESULTS@#Compared with other chromosomal abnormalities, NIPT had a higher efficacy for trisomy 21 and sex chromosomal aneuploidy (SCA) in twin pregnancies (with sensitivity being 100%, 100%, and specificity being 99.93%, 99.9%, respectively). It is difficult to evaluate the efficacy for trisomies 18 and 13 due to the limited data. For chromosome microdeletions and microduplications spanning 15 ~ 21 Mb, NIPT also had a certain detection rate. Compared with women with natural conception, NIPT had a higher detection rate for those with twin pregnancies by assisted reproduction (P < 0.05).@*CONCLUSION@#It is feasible to use NIPT for the detection of chromosome aneuploidies in women with twin pregnancies.

Prenatal diagnosis of a case of Pallister-Killian syndrome / 中华医学遗传学杂志

OBJECTIVE@#To carry out G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA) for a fetus featuring multiple malformations.@*METHODS@#The fetus was found to have increased nuchal thickness, generalized edema, asymmetric lower limbs, tetralogy of Fallot, nasal bone anomaly and cleft palate. Following amniocentesis, G-band karyotyping and CMA were carried out.@*RESULTS@#The fetus had a karyotype of 47,XX,+i(12)(p10) [14]/46,XX[6]. CMA has identified a 33.9 Mb duplication at 12p13.33-p11.1, which was suggestive of tetrasomy 12p.@*CONCLUSION@#Combined chromosomal karyotyping and CMA can delineate the origin of abnormal chromosomal fragments during prenatal diagnosis. The fetus was diagnosed with Pallister-Killian syndrome.

Does total hip arthroplasty provide better outcomes than hemiarthroplasty for the femoral neck fracture? A systematic review and meta-analysis / 中华创伤杂志(英文版)

PURPOSE@#By comparing the outcomes of total hip arthroplasty with hemiarthroplasty in elderly patients with a femoral neck fracture to investigate the one-year mortality, dislocation, infection, reoperation rate, and thromboembolic event.@*METHODS@#The PubMed, EMBASE databases, and Cochrane library were systematically searched from the inception dates to April 1, 2020 for relevant randomized controlled trials in English language using the keywords: "total hip arthroplasty", "hemiarthroplasty" and "femoral neck fracture" to identify systematic reviews and meta-analyses. Two reviewers independently selected articles, extracted data, assessed the quality evidence and risk bias of included trials using the Cochrane Collaboration' stools, and discussed any disagreements. The third reviewer was consulted for any doubts or uncertainty. We derived risk ratios and 95% confidence intervals. Mortality was defined as the primary outcome. Secondary outcomes were other complications, dislocation, infection, reoperation rate, and thromboembolic event.@*RESULTS@#This meta-analysis included 10 studies with 1419 patients, which indicated that there were no significant differences between hemiarthroplasty and total hip arthroplasty in reoperation, infection rate, and thromboembolic event. However, there was a lower mortality and dislocation rate association with total hip arthroplasty at the one-year follow-up.@*CONCLUSION@#Based on our results, we found that total hip arthroplasty was better than hemiarthroplasty for a hip fracture at one-year follow-up.

Gait Assessment of Pain and Analgesics: Comparison of the DigiGait™ and CatWalk™ Gait Imaging Systems / 神经科学通报·英文版

Investigation of pain requires measurements of nociceptive sensitivity and other pain-related behaviors. Recent studies have indicated the superiority of gait analysis over traditional evaluations (e.g., skin sensitivity and sciatic function index [SFI]) in detecting subtle improvements and deteriorations in animal models. Here, pain-related gait parameters, whose criteria include (1) alteration in pain models, (2) correlation with nociceptive threshold, and (3) normalization by analgesics, were identified in representative models of neuropathic pain (spared nerve injury: coordination data) and inflammatory pain (intraplantar complete Freund's adjuvant: both coordination and intensity data) in the DigiGait™ and CatWalk™ systems. DigiGait™ had advantages in fixed speed (controlled by treadmill) and dynamic SFI, while CatWalk™ excelled in intrinsic velocity, intensity data, and high-quality 3D images. Insights into the applicability of each system may provide guidance for selecting the appropriate gait imaging system for different animal models and optimization for future pain research.

Prenatal diagnosis for a pregnant woman affected with Williams-Beuren syndrome / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic diagnosis for a pregnant woman and her fetus.@*METHODS@#Chromosome G-banding and microarray analysis were used to analyze the woman featuring dysmorphism and recognition defect and her fetus featuring developmental retardation.@*RESULTS@#The karyotype of the woman was normal, but chromosome microarray analysis showed that she has carried a 1423 kb deletion at 7q11.23 region. Her fetus has carried a 1530 kb deletion at the same region. Both individuals were diagnosed as Williams-Beuren syndrome.@*CONCLUSION@#Familiarity with its clinical features and proper selection of genetic testing methods are crucial for the diagnosis of Williams-Beuren syndrome.

Application of quantitative fluorescencet-PCR in the prenatal diagnosis of chromosomale aneuploidies / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the accuracy of quantitative fluorescence PCR(QF-PCR) for the detection of fetal chromosomal aneuploidies and its values for prenatal diagnosis.</p><p><b>METHODS</b>QF-PCR and chromosomal karyotyping were used to analyze 6066 amniotic fluid samples derived from 6034 pregnant women.</p><p><b>RESULTS</b>Both QF-PCR and karyotyping analysis have detected 135 cases of fetal aneuploidies involving chromosomes 21, 18, 13, X, and Y. The QF-PCR assay was also successful in 67 cases for which amniotic fluid culture has failed. Furthermore, it has identified maternal cell contamination in 7 cases. By determining the consistency of short tandem repeat (STR) sites, the QF-PCR assay has identified 22 dizygotic twins among 32 twins with double chorions and double amniotic sacs. In 12 cases, it has signaled numerical chromosomal aberration by critical or partial abnormal values for the fluorescence peak area ratio, which were verified by karyotyping analysis as mosaicisms of chromosome aneuploidies.</p><p><b>CONCLUSION</b>The QF-PCR can provide an useful supplement for chromosomal karyotyping and has an important role in rapid prenatal diagnosis.</p>

Toxicology and bioactivities of CO-releasing molecules based on cobalt complexes / 药学学报

Complexes containing cobalt and carbon monoxide ligands, CO releasing molecules (CORMs), have the potential of anti-tumor and anti-inflammatory. In this paper, three hybrid CORMs 1-3 were synthesized and tested for their toxicology in vivo and bioactivities. The results suggest that the complexes have a long half-life in the range of 43-53 min; their oral LD50 to mouse are between 1 500 mg·kg-1 and 5 000 mg·kg-1. After the successive administration, complex 1 exhibited a toxic activity in rats' liver, and induced an injury to liver cells. Complex 1 had a strong growth inhibition activity (IC50 36.20 μmol·L-1 and 39.25 μmol·L-1) in both HeLa cells and HepG2 cells, complex 2 displayed a lower activity in the inhibition of HeLa cells proliferation than the control 5-FU (IC50 114.19 μmol·L-1), but had a higher activity in the inhibition of HepG2 cells than the control 5-FU (IC50 171.34 μmol·L-1). The anti-inflammatory study suggests that all of them reduce intracellular nitrite level, complexes 1 and 2 have a stronger activity than complex 3. Their anti-inflammatory activity attributes to the CO molecules of the CORMs, which was confirmed by comparison with the corresponding ligand.

Investigation on Strengthening the Supervision of Drug Stocktaking in Our Hospital / 中国药房

OBJECTIVE:To strengthen the supervision of drug stocktaking,and to improve drug management. METHODS:The data of drug stocktaking were extracted from our hospital from 2011 to 2014,and was analyzed in respects of accounts coinci-dence rate,drug profit and loss account rate,the entry and exit account between departments and original record,etc. A series of supervision strategies were established,and the data of drug stocktaking was analyzed during Jan.-Jun. in 2015 statistically to evalu-ated supervision effects. RESULTS:The supervision of drug stocktaking was strengthened through limiting the right of drug profit and loss on stocktaking,strengthening original stocktaking record management,establishing Key Drug List,setting up drug stock-taking supervision institutions,etc. During Jan.-Jun. in 2015,there was obvious improvement in the drug supervision skills,in terms of account coincidence rate,profit and loss account,material safety,cash flow rate,staff responsibility and stocktaking dura-tion,etc. More specially,the accounts coincidence rate had rose from about 82.8% to more than 95%;both the key drug accounts coincidence rate and the entry and exit account between departments coincidence rate had reached to 100%;the profit and loss ac-count rate had reduced from about 7.6% to less than 0.3%;the stocktaking time had reduced from 10 h to 3 h. CONCLUSIONS:Strengthening drug stocktaking supervision can not only improve the stocktaking efficiency and quality markedly,but also contrib-utes to the development of other pharmacy work in hospital.

Detection of chromosomal aneuploidies in spontaneous abortion samples by fluorescence in situ hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze 81 spontaneous abortion samples with fluorescence in situ hybridization (FISH).</p><p><b>METHODS</b>Chromosome 13, 21, 16, 22, 18, X and Y probes were used to detect the samples.</p><p><b>RESULTS</b>FISH was successful in 80 cases (98.77%). Among these, 35 (43.75%) had an abnormal karyotype, which included 19 autosomal aneuploidies, 6 sex chromosome aneuploidies, 9 triploidies and 1 tetraploidy.</p><p><b>CONCLUSION</b>FISH is a rapid and easy method for detecting chromosomal aneuploidies in spontaneous abortion samples, and has a higher detection rate in early spontaneous abortion samples.</p>

Analysis of 89 amniotic samples using fluorescent in situ hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the value of fluorescent in situ hybridization (FISH) for detecting common chromosome aneuploidies in interphase nuclei of amniotic fluid cells.</p><p><b>METHODS</b>Eighty two uncultured amniotic fluid samples and supernatants from 2 successfully and 5 unsuccessfully cultured amniotic fluid samples were analyzed with FISH. Results from standard cytogenetic analysis of 79 uncultured amniotic fluid samples and 2 successfully cultured amniotic fluid samples were compared with FISH results.</p><p><b>RESULTS</b>All of the 89 samples were succeeded analyzed with FISH. Positive findings included 3 cases with trisomy 21, 1 case with 47, XYY and 1 case with 69, XXX, which were consistent with results of karyotype analysis.</p><p><b>CONCLUSION</b>FISH is a rapid and accurate method for prenatal diagnosis, and can also provide a remedy to failed amniotic fluid cells culture.</p>

Pharmacokinetics of amphiphilic long-circulating hydroxycamptothecin nanoparticles / 中国药学杂志

OBJECTIVE: To prepare amphiphilic long-circulating hydroxycamptothecin nanoparticles and investigate its physicochemical properties and pharmacokinetic characteristics in rats. METHODS: Polyethyleneglycol-polycaprolactone (PEG-PCL) was synthesized. HCPT-PEG-PCL-NPs were prepared by solvent-diffusion method using PEG-PCL block copolymer as the matrix. The obtained NPs were evaluated, and the physical stabilities of both suspl and freeze-dried powder were investigated. High-performance liquid chromatography (HPLC) was used to determine and compare the pharmacokinetic parameters of HCPT injection and HCPT-PEG-PCL-NPs prepared with different copolymers in rats. RESULTS: When using PEG4000-PCL1250, PEG4000-PCL2000, PEG2000-PCL1250, PEG2000-PCL2000 as the carrier materials, the average particle sizes of NPs were 110.0, 116.1, 99.1 and 119.9 nm; the Zeta potentials were -16.9, -22.4, -28.8 and -33.5 mV; the entrapment efficiency were 83.10%, 88.29%, 77.46% and 80.67%; and the drug loading percentages were 2.56%, 2.96%, 2.14% and 2.31%, respectively. The physical stability of the freeze-dried powder was better, and hot environment seemed to be bad for the stability. The t1/2s of HCPT-PEG4000-PCL1250-NPs, HCPT-PEG2000-PCL1250-NPs, HCPT-PEG4000-PCL2000-NPs and HCPT-PEG2000-PCL2000-NPs were 18.07, 9.08, 5.25 and 5.14 times longer than that of HCPT injection which was 0.1418 h. CONCLUSION: The HCPT-PEG-PCL-NPs show sustained-release effect and long-circulation property compared with HCPT injection. Copyright 2012 by the Chinese Pharmaceutical Association.

Preparation of Mitomycin for Injection Nanoparticles by Microfluidization and Its Hemolytic Test / 中国药房

OBJECTIVE: To prepare Mitomycin C for injection-Polybutylcyanoacrylate Nanoparticles (MMC-PBCA-NPs) freeze drying preparation by microfluidization and to investigate its hemolytic feature. METHODS: The crude emulsion of MMC-PBCA-NPs was prepared by emulsion polymerization method, from which MMC-PBCA-NPs solution was prepared by microfluidization method; the encapsulation efficiency (EE) and the drug loading (DD) of the preparation were detected by ultraviolet spectrophotometry. The particle size and appearances of which were observed. A hemolytic test was performed on rabbits to observe the blood reaction of the preparation. RESULTS: The prepared MMC-PBCA-NPs freeze drying preparation was uniformly distributed and in round shape, with EE, DD and mean diameter at (85.1?3.8)%, (7.0?0.2)% and (113.5?3.86)nm, respectively. The hemolytic test was negative. CONCLUSION: It is feasible to prepare MMC-PBCA-NPs by microfluidization method.