Objective To evaluate the accuracy of prenatal diagnosis of fetal conotruncal anomalies with echocardiography. Methods Fetal echocardiography were conducted for all women in their antenatal visits from Jan 2003 to Dec 2004. The echocardiographic diagnosis was compared with cardiac pathology results. Results Among 2063 women who had fetal echocardiographiy performed, conotruncal anomaly was detected in 28 fetuses with the average gestation of 26. 6 (16-40) weeks when the diagnosis was made, including tetralogy of Fallot (n=5), double outlet right ventricle (n = 6) , transposition of the great arteries (n = 5) , truncus arteriosus (n = 9) and ventricular septal defect with suspected overriding aorta (n=1). Four of the 28 fetuses were lost during follow up and the accurate rate of prenatal assessment of the great artery relationship was 75. 0% (18/24). Two fetuses with prenatal diagnosis of truncus arteriosus were reported as having pulmonary atresia with ventricular septal defect at autopsy. An overriding aorta was suspected in the other case, but postnatal echocardiography was diagnosed as perimembranous subaortic defect. Two fetuses with prenatally suspected double outlet right ventricle were diagnosed as having transposition of the great arteries at autopsy. Only one false-negative diagnosis was made in this series (4. 2%). Conclusions Conotruncal anomalies can be correctly diagnosed by fetal echocardiography. A combination of different views is necessary to define the exact spatial relationship of the great arteries. Specific diagnosis remains a challenge in some cases.

Objective To investigate the features of renal lesion in patients with rheumatoid arthritis (RA). Methods The clinical pathology changes of 20 patients with renal lesion by RA were analyzed. Results The clinical features of patients showed chronic glomerulonephritis in 8 cases,nephritic syndrome 4 cases, chronic interstitial nephritis in 3 cases, chronic renal failure in 4 cases, and acute renal failure in 1 case. The patients with glomerulonephritis accompanied with the increase of immunoglobulin, erythrocyte sedimentation rate, C-reactive protein or rheumatoid factor. Kidney biopsy of 7 patients found membranous nephro-pathy in, IgA nephropathy in 3 and vasculitis in 1. Conclusion The common renal lesion in RA is glomerulonephritis, with mesangial proliferative glomerulonephritis or membranous nephropathy. One of the basic pathoh,gi,.al changes is vasculitis,which could result in necrotizing vasculitis.The disorder of immunologic function couht play important role in renal damage in patients with RA.

Objective To investigate the distribution characteristics and clinical features of familial aggregation hemangioma to improve the level of the diagnosis and treatment.Methods Total 1202 cases of vascular disease were treated in this department from June 2006 to June 2011.The clinical data and family distribution characteristics in 36 cases of familial aggregation hemangioma were analyzed and their effects of laser treatment were evaluated.Results 36 cases were familial aggregation hemangioma,whose incidence was 2.99 ％ in 1202 cases of vascular disease cutis; and the ratio of male to female was 1 ∶ 1.There were 9 cases of parents suffering from hemangioma.But the incidenceof the next generation suffering from vascular disease was 28.5 ％.Among these 36 cases of familial aggregation hemangioma,33 cases underwent the long pulse 1064 nm Nd ∶ YAG laser and optimized pulse light combination therapy.The effective rate was 100 ％.Conclusions There may be a genetic predisposition in hemangioma.The application of long pulse 1064 nm Nd ∶ YAG laser and optimized pulsed light treatment to hemangioma cutis can obtain satisfactory results.The intervention should be taken in early stage.

ObjectiveTo investigate the value of combined four-chamber view,left and right ventricular outflow tract view and three-vessel view of two-dimensional echocardiography (2DE) in prenatal screening for fetal congenital heart disease (CHD). MethodsFour combined views of 2DE were used to detect fetal hearts in 2419 fetuses at 21～ 25 gestational weeks.The echocardiograms were performed on all 2382 live-birth infants.Chi-square test was applied for statistical analysis.Sensitivity,specificity,positive predict value and negative predict value were calculated. Results The prevalence of fetal CHD was 11.62％ (281/2419).Among the 281 CHD fetuses,87.18％ were simple CHD (n=245) and 12.82％ were complex CHD (n=36).No difference was found in the positive rate of fetal CHD between the high-risk group and non-high-risk group [13.60％(34/250) vs 11.39％(247/2169),x2=1.069,P＜0.05].Thirty-six cases of CHD could be detected by the four combined views in prenatal screening with the sensitivity,specificity,positive and negative predictive value of 12.8％,99.8％,90.0％ and 89.7％,respectively.However,the diagnostic sensitivity of four combined views for simple CHD was 2.9％(7/245) and 80.6％(29/36) for complex CHD.The prevalence of neonatal CHD was 10.58％ (252/2382),including 241 with simple CHD and 11 complex ones. ConclusionsFour combined views of 2DE for prenatal screening is less sensitive in detecting simple CHD than complex CHD.Most of the complex CHD could be diagnosed by four combined views of 2DE before birth,but the misdiagnosis rate is high in simple CHD.The echocardiograms performed on newborns might make up for the lack.

Objective To explore the effect of oropharyngeal healthy exercise combined with guided education in the treatment of dysphagia in patients with Alzheimer's disease (AD). Methods 90 AD inpatients in the geriatric psychiatric department of Guangzhou Huiai Hospital during May 2014 and August 2015 were equally randomized into the study group and the control group with a random digit table:the former group was treated with routine oral muscles training and the latter with oropharyngeal healthy exercises combined with guided education plus routine muscles training. The comparison was done between the groups in terms of the total curative effectiveness 4 weeks following the intervention. Result The total effective rate in the study group was significantly higher than that in the control group (P<0.01). Conclusion The oropharyngeal healthy exercise combined with guided education can effectively promote the recovery of swallowing function in AD patients.

OBJECTIVE: To establish a non-invasive method for beta-thalassemia by detecting parental CD41-42 mutation in cell-free DNA derived from maternal plasma with droplet digital PCR (ddPCR). METHODS: Beta-actin gene and beta-thalassemia gene CD41-42 mutation were respectively set as the reference and target sequences. A novel method was established based on Bio-Rad ddPCR technique with specific primers and TaqMan probes for the two genes. The accuracy, sensitivity and detective linearity range of the developed method were evaluated by detection of the target gene gradient concentration samples. The applicability was also evaluated by testing 20 maternal plasma samples. RESULTS: The ddPCR method could accurately detect the beta-thalassemia CD41-42 mutation in cell-free DNA derived from maternal plasma. Within the target sequence concentration ratio of 5.00%-0.50%, the relative errors were all < 0.05, the linear regression equation was Y=1.0101-X-0.0071 and R=0.9994. The results of 20 maternal plasma cell-free DNA samples were all consistent with those of the follow-up testing. CONCLUSION A ddPCR method for detecting parental CD41-42 mutation in cell-free DNA from maternal plasma was developed. The method is simple, rapid, accurate, and can be applied for non-invasive prenatal diagnosis for couples simultaneously carrying the CD41-42 mutation.
Cell-Free Nucleic Acids ; DNA ; blood ; Female ; Humans ; Mutation ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis ; methods ; beta-Thalassemia ; diagnosis ; genetics

Objective:To construct the risk prediction model of acute exacerbation of chronic obstructive pulmonary disease (AECOPD) and verify its effectiveness based on deep learning and back propagation algorithm neural network (BP neural network).Methods:Based on the relevant data of 1 326 patients with chronic obstructive pulmonary disease (COPD) in the team's previous clinical study, the acute exacerbation, and its risk factors during the stable period and 6 months of follow-up were recorded and analyzed. Combined with previous clinical research data and expert questionnaire results, the independent risk factors of AECOPD after screening and optimization by multivariate Logistic regression including gender, body mass index (BMI) classification, number of acute exacerbation, duration of acute exacerbation and forced expiratory volume in one second (FEV1) were used to build the BP neural network by Python 3.6 programming language and Tensorflow 1.12 deep learning framework. The patients were randomly selected according to the ratio of 4∶1 to generate the training group and the test group, of which, the training group had 1 061 sample data while the test group had 265 pieces of sample data. The training group was used to establish the prediction model of neural network, and the test group was used for back-substitution test. When using the training group data to construct the neural network model, the training group was randomly divided into training set and verification set according to the ratio of 4∶1. There were 849 training samples in the training set and 212 verification samples in the verification set. The optimal model was screened by adjusting the parameters of the neural network and combining the area under the receiver operator characteristic curve (AUC), and the sample data of the test group was substituted into the model for verification.Results:The independent risk factors including gender, BMI classification, number of acute exacerbation, duration of acute exacerbation and FEV1 were collected from the team's previous clinical research, and the AECOPD risk prediction model was constructed based on deep learning and BP neural network. After 10 000 training sessions, the accuracy of the AECOPD risk prediction model in the validation set of the training group was 83.09%. When the number of training times reached 8 000, the accuracy basically tended to be stable and the prediction ability reached the upper limit. The AECOPD risk prediction model trained for 10 000 times was used to predict the risk of the validation set data, and the receiver operator characteristic curve (ROC curve) analysis showed that the AUC was 0.803. When using this model to predict the risk of the data of the test group, the accuracy rate was 81.69%.Conclusion:The risk prediction model based on deep learning and BP neural network has a medium level of prediction efficiency for acute exacerbation within 6 months in COPD patients, which can evaluate the risk of AECOPD and assist the clinic in making accurate treatment decisions.

Objective: To investigate the current basic situation of the staff of ultrasound departments in Shanghai′s medical institutions, for providing references in making management policy of these professionals. Methods: Questionnaire surveys on human resource and service ability were made to all the ultrasound departments of medical institutions in Shanghai in December 2013 and November 2018 respectively. Data of the two surveys were compared and analyzed, and were descriptively analyzed by mean and percentage. Results: The number of ultrasound professionals per 10 000 people in Shanghai was 1.04 in 2018. Tertiary hospitals had advantages in the number of the professionals, and the proportion of professional qualification, age, education background and professional title of the professionals. Compared to those data in 2013, the number of ultrasound professionals had increased 31.8% in 2018. The proportion of medical practitioners with medical imaging specialty was 95.6%(2 063/2 158), and had increased by 4.7 percent. The medical services workload of ultrasound was 19.82 million person-time, and had increased 45.8%. Conclusions Development of ultrasound departments was rapid, but the development of professionals was unbalanced with the development of medical services. It is suggested to strengthen training of ultrasound professionals and improve the system of hierarchical medical system.

Tripterygium wilfordii is a valuable medicinal plant rich in biologically active diterpenoids, but there are few studies on the origins of these diterpenoids in its secondary metabolism. Here, we identified three regions containing tandemly duplicated diterpene synthase genes on chromosomes (Chr) 17 and 21 of T. wilfordii and obtained 11 diterpene synthases with different functions. We further revealed that these diterpene synthases underwent duplication and rearrangement at approximately 2.3-23.7 million years ago (MYA) by whole-genome triplication (WGT), transposon mediation, and tandem duplication, followed by functional divergence. We first demonstrated that four key amino acids in the sequences of TwCPS3, TwCPS5, and TwCPS6 were altered during evolution, leading to their functional divergence and the formation of diterpene secondary metabolites. Then, we demonstrated that the functional divergence of three TwKSLs was driven by mutations in two key amino acids. Finally, we discovered the mechanisms of evolution and pseudogenization of miltiradiene synthases in T. wilfordii and elucidated that the new function in TwMS1/2 from the terpene synthase (TPS)-b subfamily was caused by progressive changes in multiple amino acids after the WGT event. Our results provide key evidence for the formation of diverse diterpenoids during the evolution of secondary metabolites in T. wilfordii.