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ObjectiveAt present, the matching reagents of commercially available rapid DNA instruments based on microfluidics chip technology are autosome short tandem repeat (STR) individual identification reagents. The non-recombining part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profile is uninformative. Y-STR loci are useful markers to identify males and male lineages in forensic practice. In order to achieve rapid and fully integrated detection ofY-STR loci, this study constructed the RTyper Y27 microfluidic chip rapid detection system and validated the performance of this system. MethodsThe system was verified and evaluated by sensitivity, success rate, typing accuracy, peak height balance, sizing precision and accuracy, mock case sample tests, mixture detection ability, and inhibition tolerance. ResultsComplete Y-STR profiles can be obtained when the template amount of DNA standard 9948 was ≥8 ng, the number of blood cards was ≥3 pieces, and the number of oral swab scrapings was≥7 times. The success rate of fully integrated detection was 91.52%, and the concordance rates was 99.74% for 165 testing samples. The success rate of 115 blood spots in these samples was 90.43%, with a typing accuracy of 99.65%, the success rate of 50 buccal swabs was 94%, with a typing accuracy of 99.92%. There was no significant difference in typing accuracy between blood spots and buccal swab samples. The peak height ratio between different fluorescence channels was 89.81%. The standard deviation of allelic ladder for 10 runs was within 0.5 bp. The size differences between allele and corresponding allele in allelic ladder was within 0.5 bp. The maximum precision CV values within and between batches were 0.48% and 0.68%, respectively, which were lower than 15%. These data indicate that the system has good accuracy and precision. The system was capable of accurately typing oral swabs, blood cards, saliva cards, cigarette butts, blood swabs and seminal stains. Complete Y-STR profiles can be obtained and distinguish at the 1∶3 ratio of minor and major contributors in artificial male DNA mixtures. Complete Y-STR genotyping can be obtained under the interference of inhibitors, such as different concentrations of humic acid (50-400 mg/L), indigotin (20-100 nmol/L) and hemoglobin (100-500 μmol/L). ConclusionIn this study, the RTyper Y27 microfluidic chip rapid amplification system is combined with the Quick TargSeq 1.0 integrated system, and the Y-STR profile can be obtained in approximately 2 h. Through a series of verification experiments, the results show that the system has good repeatability, accuracy and stability, can meet the on-site Y-STR detection requirements, and can be used in forensic practice.
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OBJECTIVE: To explore the clinical value of non-invasive prenatal testing(NIPT)for screening fetal chromosomal copy number variations(CNVs) and microdeletion/microduplication syndromes(MDs).METHODS: Retrospective analysis was made in the 10 005 women who received NIPT during the first trimester(15-20+ 6 weeks)from January,2012 to July,2017,at First People's Hospital of Yunnan Province,Department of Genetic Diagnosis Center.Among them 32 pregnant women were indicated fetal CNVs,25 of 32 pregnant women selected interventional prenatal diagnosis.Statistical analysis was made on the amniotic fluid/cord blood chromosome G band karyotype and high-throughput sequencing(NGS)genome copy number analysis was made,and relevant CNVs were searched and analyzed in the corresponding database;the consistency of CNVs found in NIPT with interventional prenatal diagnosis was statistically analyzed.RESULTS: During the second trimester(15-20+ 6 weeks),in the 10 005 pregnant women who received NIPT testing 32 cases were shown to have high risks of fetal CNVs,and the screening positive rate was 0.32%(32/10 005).In 25 high risk pregnant women who accepted invasive prenatal diagnosis via informed choice,14 women wereconfirmed as fetal CNVs,the positive predictive value(PPV)of NIPT being 56%(14/25),including 9 cases of microdeletion and 5 cases of microduplication.The sizes were between 587.75 kb and 36.05 Mb.The size and the start and end positions of CNVs found by NIPT were similar to those of fetal DNA samples detected by NGS.Among 14 cases of fetal CNVs,11 cases were identified as MDs,3 cases as unknown clinical significance.In 11 cases of MDs,8 cases were observed fetal chromosome structure abnormalities by karyotype analysis,10 cases were confirmed as de novo abbreviations,and 2 cases as originated from paternal same MD.After genetic counseling,10 pregnant women in 11 cases of MDs chose informed terminations,and one case chose continuing pregnancy.CONCLUSION: As a high-precision screening method,NIPT is expected to be an effective mean to screen for fetal CNVs,which can be used to detect highrisk chromosome microdeletion and microduplication CNVs of larger segments.High risk cases of fetal CNVs found by NIPT require invasive prenatal diagnosis for validation.
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AIM To investigate the toxicity of Buxue Shengru Granules (BSG,Astragali Radix,Angelicae sinensis Radix,Paeoniae Radix alba,etc.) to perinatal SD rats and their offspring to determine its safety.METHODS The respective BSG administration of 0,1,3,10 g/kg to the four groups rats,each with twenty-four female rats,started from the day 15 of gestation (GD15) through weaning when they were procured for the identification of the general condition,body weight and food ingestion.The offspring had their postnatal appearance observed the physiological development,reflexes development,behavior and fertility detected as well.RESULTS BSG gave neither significant influence on the rats' general condition,time of birth,body weight,and histological changes of organs during perinatal period;nor remarkable impact on the offspring's growth,development,nerves,endocrine,and reproductive system.CONCLUSION Data on BSG to rats maternal weight gain and food intake and to their offspring developmental landmarks,sexual maturation,or reflexes suggest that BSG gives no perinatal toxicity.
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<p><b>BACKGROUND</b>Currently, transcatheter closure of perimembranous ventricular septal defect (pmVSD) is a widely accepted therapeutic modality. However, arrhythmias, especially postprocedural heart blocks, are a concern and outcomes are not very clear. This study explored the outcomes and risk factors of arrhythmias associated with transcatheter device closure of pmVSD.</p><p><b>METHODS</b>A total of 395 patients diagnosed with pmVSD who successfully underwent transcatheter intervention between January 2010 and December 2015 in our center were retrospectively reviewed. Electrocardiographic data before and after the procedure were collected and analyzed. We first evaluated the potential risk factors including gender, age, weight, inlet and outlet diameters of defect, subaortic rim length, occluder size, corrected occluder size into body surface area, fluoroscopy time, presence of aneurysm, and deployment position. We compared the potential risk factors between arrhythmia and nonarrhythmia groups using univariate analysis, followed by logistic analysis for independent risk factors.</p><p><b>RESULTS</b>Various arrhythmias were detected in 95 cases (24.1%) following transcatheter closure procedure. Logistic regression analysis revealed that eccentric (odds ratio [OR] 2.9, 95% confidence interval [CI]: 1.2-7.2) and large occluders (OR 2.0, 95% CI: 1.6-2.5), as well as long fluoroscopy time (OR 1.1, 95% CI: 1.1-1.2), were correlated with postprocedural arrhythmia. During 35.5 months (range: 9-80 months) of follow-up, most of the patients (74 out of 95) reverted to normal heart rhythm.</p><p><b>CONCLUSIONS</b>The mid-term outcome of patients with arrhythmias after transcatheter closure of pmVSD was satisfactory as most of the patients recovered normal rhythm. Eccentric, large device and long fluoroscopy time increase the risk of arrhythmias after transcatheter closure of pmVSD.</p>
Subject(s)
Child , Child, Preschool , Female , Humans , Male , Arrhythmias, Cardiac , Diagnosis , Cardiac Catheterization , Cardiac Surgical Procedures , Electrocardiography , Heart Septal Defects, Ventricular , General Surgery , Retrospective Studies , Risk Assessment , Risk Factors , Septal Occluder Device , Treatment OutcomeABSTRACT
Objective To investigate the efficacy and safety of radiofrequency catheter ablation(RFCA) treatment for children with tachyarrhythmia of various types.Methods Two hundred and sixty-one cases with tachyarrhythmia who received RFCA at Shandong Provincial Hospital Affiliated to Shandong University from Aug.2000 to Dec.2012 were selected.All electrocardiogram(ECG) and echocardiography data were obtained.All of the 261 patients underwent electrophysiological study and RFCA.The clinical data of the pediatric patients with tachyarrhythmia after RFCA in Shandong Provincial Hospital Affiliated to Shandong University were retrospectively analyzed and the curative effect and the complication rate of RFCA treatment for children with tachyarrhythmia of various types were investigated.Results (1)Among the 261 cases,4 cases had tachyarrhythmia associated with tachycardia induced cardiomyopathy,and 1 case had tachycardia associated with heart failure.(2)One hundred and forty-six cases had atrioventricular reentrant tachycardia(AVRT) ;74 cases had atrioventricular nodal reentrant tachycardia(AVNRT) ;32 cases had idiopathic ventricular tachycardia(IVT) ;6 cases had atrial tachycardia(AT) ;and 3 cases had atrial flutter(AF).Ten children with tachyarrhythmia associated with organic heart disease received RFCA successfully.(3) The average operation time was (101.23 ±51.37) minutes and the average X-ray exposure time was(21.85 ± 17.10) minutes.(4)The total successful rate of RFCA was 98.08％ (256/261 cases),1 case(0.38％) suffered from pneumothorax after operation,and recovered after treatment.There was no serious complications nor deaths of all the patients.(5) Twenty-two cases recurred,and the total recurrence rate was 8.43％ (22/261 cases),time to relapse was 3 days to 5 years,and the average time was 7 months.There were 9 cases in IVT(9/32 cases,28.13％),7 cases in AVRT(7/146 cases,4.79％),4 cases in AVNRT(4/74 cases,5.41％),2 cases in AT(2/6 cases,33.33％).Eighteen cases received successful RFCA for second time,and 4 cases had good effect after drug control.Conclusions (1) RFCA in pediatric patients of tachyarrhythmia is relatively convenient,and this therapy can be performed safely and effectively that can cure certain tachyarrhythmia.(2) AVRT is the common type of tachyarrhythmia in children,followed by AVNRT,IVT,AT and AF.(3) The total recurrence rate of RFCA in children is low,but is relatively high in IVT and AT.(4) The success rate of RFCA is the same in children combined organic heart disease.