Application of case-based learning combined with flipped classroom in the teaching of experimental diagnostics in the integrated course of Diagnosis and Treatment Fundamentals / 中华医学教育探索杂志

Objective:To investigate the application effect of case-based learning (CBL) combined with flipped classroom in the teaching of experimental diagnostics in the integrated course of Diagnosis and Treatment Fundamentals. Methods:The cluster random sampling method was used to select the class of 2019 in the eight-year program and the class of 2020 in the five-year program, with the major of stomatology in Air Force Medical University. The 24 students in the observation group received CBL combined flipped classroom, and the 37 students in the control group received traditional teaching. The two groups were compared in terms of theoretical assessment score, classroom assessment score, comprehensive ability, self-learning ability, and degree of satisfaction with teaching. SPSS 22.0 was used for the t-test. Results:The observation group had a significantly higher theoretical assessment score than the control group [(74.88±3.46) vs. (71.89±4.45), P<0.05]. The observation group had significantly better scores of practical skill assessment than the control group ( P<0.05). Compared with the control group, the observation group had significantly better scores of comprehensive ability and self-learning ability ( P<0.05). The observation group had significantly better scores of satisfaction with teaching than the control group ( P<0.05). Conclusion:The application of CBL combined with flipped classroom in the teaching of experimental diagnostics in the integrated course of Diagnosis and Treatment Fundamentals can improve theoretical knowledge, practical skills, comprehensive quality, and satisfaction with teaching among students, and therefore, it holds promise for application in teaching.

Genetic etiology of fetal conotruncal defects and significance of copy number variation sequencing and whole exome sequencing: analysis of 196 cases / 中华围产医学杂志

Objective:To investigate the genetic etiology of fetal conotruncal heart defects (CTDs) and to evaluate the performance of copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) in identifying the genetic etiology.Methods:This retrospective study involved 196 fetuses diagnosed with CTDs by fetal echocardiography in Beijing Anzhen Hospital, Capital Medical University from June 2017 to December 2021. CNV-seq was performed to screen for chromosomal abnormalities [aneuploidy and copy number variations (CNVs)] in the fetuses and their parents, and then WES was performed if CNV-seq was negative. The diagnostic yields of genetic abnormalities [aneuploidy+CNVs+single nucleotide variations (SNVs)] for different types of CTDs were compared using Chi-square test. Results:CNV-seq revealed 54 cases (27.6%, 54/196) with chromosomal abnormalities, including 14 (7.1%, 14/196) aneuploidies, 39 (19.9%, 39/196) CNVs and one aneuploidy complicated by CNVs. Together with another 13 fetuses with pathogenic or likely pathogenic SNVs detected by WES among the rest 142 cases whose CNV-seq results were negative, the total detection rate of genetic abnormalities was 34.2% (67/196). WES increased the diagnostic yield for CTDs by 9.2% (13/142). There was significant difference in the diagnostic yields for different types of CTDs ( χ2=20.31, P=0.002). The diagnostic yield was relatively high for interrupted aortic arch of type B, absent of the pulmonary valve -type of tetralogy of Fallot (9/10 and 8/12), but low for transposition of the great arteries (12.5%, 5/40). Conclusions:CNVs are the common genetic abnormalities in fetal CTDs, and SNVs are also detected in some cases. It is recommended that all fetuses with CTDs should undergo genetic testing. CNV-seq should be used in combination with WES if possible to improve the identification of genetic etiology and provide reference for genetic counseling.

Nonsense variation of OTUD5 gene in a fetus with X-linked multiple congenital anomalies- neurodevelopmental syndrome / 中华围产医学杂志

We report a fetus presented with complex cardiac malformations, pulmonary atresia with ventricular septal defect, detected by fetal echocardiography at 17 +4 weeks. The pregnancy was terminated after routine counseling and genetic tests were performed on umbilical cord of the induced fetus and peripheral blood samples of the parents. Whole-exome sequencing identified a novel maternally-inherited and likely pathogenic variation hemizygous nonsense variant, c.1651C>T (p.Gln551*) in the OTUD5 gene (NM_017602.3), which was confirmed by subsequent Sanger sequencing. The fetus was finally diagnosed as X-linked multiple congenital anomalies-neurodevelopmental syndrome.

Pathogenesis, prenatal diagnosis and clinical features of fetal cardiomyopathies / 中华超声影像学杂志

Objective:To summarize the etiological mechanism, echocardiographic and clinical features of fetal cardiomyopathies (FCMs).Methods:According to the data of echocardiography in Maternal-Fetal Medicine Center in Fetal Heart Disease of Beijing Anzhen Hospital during 2015 January to 2020 December, 70 cases with FCMs were retrospectively reviewed, and the clinical, ultrasonic, pathological and clinical outcome data were collected. Whole exome sequencing and whole genome sequencing were used to identify the genetic changes.Results:Primary FCMs were diagnosed in 55 cases (78.6%, 55/70), including 39 fetuses with non-compaction of the ventricular myocardium (NVM), 10 with dilated cardiomyopathy (DCM), 5 with hypertrophic cardiomyopathy (HCM), and 1 with restricted cardiomyopathy (RCM). Secondary FCMs were diagnosed in 15 cases (21.4%, 15/70), including 7 fetuses with maternal anti-Ro/La antibodies (presenting with DCM), 4 with twin-twin transfusion syndrome (2 with DCM and 2 with HCM), 2 with fetal anemia (presenting with DCM), 1 with maternal diabetes (presenting with HCM) and 1 with chorioangioma of the placenta (presenting with DCM). In all cases, 9 cases were born, 3 cases died in perinatal period, and 58 pregnancies were terminated due to ineffective treatment or the decisions of pregnant women. Thirty cases with primary FCMs were performed with genetic tests, and 13 of them were identified with positive genetic changes related to FCMs, including 12 cases with NVM and 1 with HCM.Conclusions:Primary FCMs are more common than secondary FCMs in fetal period. The genetic disorders have a high proportion in fetal NVM. Fetal DCM and HCM have a large spectrum of intrinsic and extrinsic causes.

Correlation between body composition and cardiorespiratory fitness decline in physical examination population of different genders / 中华健康管理学杂志

Objective:To analyze the correlation between the body composition and cardiorespiratory fitness (CRF) decline in physical examination population of different genders.Methods:Clinical data of the cardiopulmonary exercise testing (CPET) and body composition analysis of 439 people who received physical examination in the Medical Examination Center of Peking University Third Hospital from May 2021 to September 2021 were retrospectively analyzed. The general data, physical examination, biochemical parameters, body composition and CPET results were collected. The subjects were divided into normal group and decline group according to the percentage of peak oxygen uptake (VO 2peak) levels ≥ 85% or<85%. Multivariate logistic regression was applied to investigate the influencing factors of CRF decline in subjects of different genders. Results:Among men, total cholesterol and triglyceride in the decline group were significantly higher than those in the normal group [(5.097±0.890) vs (4.865±0.856) mmol/L, (1.778±1.200) vs (1.485±0.709) mmol/L], and the blood homocysteine (Hcy) and skeletal muscle index were significantly lower than those in the normal group [13.00 (11.30, 15.90) vs 13.80 (12.05, 17.10) μmol/L, (7.89±0.65) vs (8.08±0.64) kg/m 2] (all P<0.05). Among women, skeletal muscle index in the decline group was significantly lower than that in the normal group [(6.21±0.52) vs (6.53±0.56)kg/m 2], and percent body fat was significantly higher than that in the normal group [(32.83±4.92)% vs (31.21±4.55)%] (all P<0.05). The elevation of triglyceride level ( OR=1.487, 95% CI: 1.042-2.121) and visceral fat area ( OR=1.032, 95% CI: 1.014-1.051) were positively correlated with the decline of CRF in man, the decrease of skeletal muscle index ( OR=0.215, 95% CI: 0.106-0.435) and the increase of percent body fat ( OR=1.149, 95% CI: 1.060-1.245) were positively correlated with the decrease of CRF in women (all P<0.05). Conclusions:There is a correlation between body composition and CRF decline in physical examination population of different genders. Men should control visceral fat more effectively, and women should pay attention to increase muscle mass while reducing body fat, in order to improve CRF.

Echocardiographic and pathological features of fetal Kabuki syndrome / 中华围产医学杂志

Objective:To summarize the echocardiography and pathological features of fetal Kabuki syndrome.Methods:This study retrospectively analyzed the echocardiography and pathological features of seven fetuses with KMT2D pathogenic variants confirmed by copy number variation sequencing, and who were identified as complex congenital heart disease by fetal echocardiography, at Beijing Anzhen Hospital, Capital Medical University and other multi-center collaborative hospitals on fetal congenital heart diseases from January 2013 to May 2018. All the seven fetuses were artificially aborted. Descriptive statistics were used for data analysis. Results:(1) The seven pregnant women aged 29 (27-32) years and had an abortion at 23 (22-25) gestational weeks. There were three male and four female fetuses. (2) Pathogenic mutations in KMT2D gene were detected in all seven cases, including one nonsense mutation and six frameshift mutations. (3) All fetuses had left heart obstruction with or without aortic arch dysplasia/interruption of the aortic arch. There were three with hypoplastic left heart syndrome, two with a single ventricle, one with aortic atresia, and one with severe mitral valve dysplasia. Other cardiovascular abnormalities included aortic arch branch abnormalities, double-outlet of the right ventricle, ventricular septal defect, tricuspid atresia, pulmonary valve stenosis (nearly atresia) complicated by pulmonary dysplasia, persistent left superior vena cava, and patent or closed foramen ovale. Secondary changes included enlargement of the right atrium and right ventricle, and dilatation of the pulmonary artery or ductus arteriosus. (4) Four of the seven fetuses showed multiple extracardiac system abnormalities, including facial deformities (two cases), pulmonary dysplasia (two cases), digestive abnormalities(two cases), and urogenital system abnormalities (two cases). Conclusions:The main features of echocardiography for fetal Kabuki syndrome are left heart obstruction, often complicated by other congenital cardiovascular abnormalities.

Fetal echocardiographic features and clinical phenotype of 22q11.2 microdeletion syndrome: analysis of 46 cases / 中华围产医学杂志

Objective:To investigate the fetal echocardiographic features and clinical phenotype of 22q11.2 microdeletion syndrome (22q11.2DS) and provide information for the diagnosis of fetal 22q11.2DS.Methods:We retrospectively retrieved information of 822 fetuses, who were diagnosed with congenital heart disease by fetal echocardiography, with results of low-coverage whole genome sequencing from the Genetic Database of Beijing Key Laboratory of Fetal Heart Disease and Maternal Fetal Medicine Research from January 2013 to April 2019. Phenotype, fetal echocardiographic features and genetic origin results of 46 fetuses with 22q11.2DS (22q11.2DS group) were summarized. Another 68 fetuses who were negative for 22q11.2DS but had conotruncal defects(CTD) were selected as control. Differences in fetal cardiac axis were compared between the two groups. Independent samples t test and Chi-square test were used for statistical analysis. Results:22q11.2DS was detected in 46 fetuses giving a total detection rate of 5.60% (46/822). The detection rates of 22q11.2DS in fetuses with CTD and non-CTD were 14.8% (45/305) and 0.2% (1/517), respectively ( χ2=74.253, P<0.001). Fetal cardiac axis was left-deviated in those with 22q11.2DS compared with those of the control [(61.7±15.3)°vs (55.7±13.4)°, t=-3.843, P=0.001]. Conclusions:CTD are the common clinical phenotypes of fetal 22q11.2DS. Fetal 22q11.2DS should be considered and the corresponding prenatal genetic diagnosis is highly suggested when the fetus is diagnosed with CTD especially combined with an enlarged cardiac angle.

Fetal Smith-Magenis syndrome diagnosed after pregnancy termination by low-coverage whole-genome sequencing: a report of two cases / 中华围产医学杂志

We reported two fetal cases diagnosed with Smith-Magenis syndrome.One case was found with bilateral ventriculomegaly,double-outlet right ventricle,pulmonary stenosis and ventricular septal defect when performing fetal echocardiography.Then the fetus was diagnosed with severe tetralogy of Fallot and tortuous ductus arteriosus by autopsy.The other case was suggested to have tetralogy of Fallot,right aortic arch and ectopic ductus arteriosus by fetal echocardiography,which was later confirmed by autopsy.Both of the two pregnancies were terminated.Tissue samples of the two fetuses were analyzed by the low-coverage whole-genome sequencing,and both cases carried a microdeletion of 3.63 Mb and 4.86 Mb in chromosome 17pl 1.2,which overlapped with the missing segments causing Smith-Magenis syndrome.Therefore,the two fetuses were both diagnosed with Smith-Magenis syndrome.

Prenatal chocardiography in diagnosis of fetal noncompaction of ventricular myocardium / 中国介入影像与治疗学

Objective: To investigate the value of prenatal echocardiography in diagnosis of fetal noncompaction of ventricular myocardium (FNVM). Methods: Echocardiographic data of 12 fetuses with FNVM were analyzed and compared with the pathological results. Results: All 12 fetuses were diagnosed with FVNM. Biventricular involvement was detected in 5 fetuses, left ventricle involvement was observed in 5 fetuses, while right ventricle involvement was found in 2 fetuses. FNVM mostly involved the left ventricular apical (n=10). Associated abnormalities of heart structures were noticed in 7 fetuses, while 5 fetuses were found with serous membrane fluid and 3 fetuses with arrhythmia. Eight fetuses were tested for single gene mutation and copy number variations, among them 6 were detected with pathogenic gene mutations, 1 with the likely pathogenic gene mutation KCNH2 and 1 with chromosomal microdeletion. Conclusion: FNVM can involve both the left and the right ventricles, which tends to combine with right sided lesions, arrhythmia and serous membrane fluid. Prenatal echocardiography may play an important role in the diagnosis, prognosis and parental counseling of FNVM.

Fetal pulmonary atresia with ventricular septal defect :echocardiographic findings ,associated anomalies and chromosomal characteristics / 中华超声影像学杂志

Objective To analyze the echocardiographic findings , associated anomalies and chromosomal characteristics in fetuses with pulmonary atresia with ventricular septal defect ( PA/VSD ) . Methods T he echocardiographic data and follow‐up materials were retrospectively reviewed in 30 256 fetuses from December 2012 to M arch 2018 in the consultation center of fetal heart disease in maternal‐fetal medicine in Anzhen hospital . Of all the fetuses ,59 cases ( 0 .19% ) had PA/VSD . T he echocardiographic findings ,associated anomalies and chromosomal characteristics were retrospectively analyzed in all the 59 fetuses with PA/VSD . Based on w hether the presence of the native pulmonary arteries and the major aortopulmonary collateral arteries ( M APCAs) or not ,the PA‐VSD was classified into type A ,type B ,and type C . Results A large ventricular defect was demonstrated in five‐chamber view with 61 .7% of the mean ratio of the aortic overriding . O ther fetal echocardiographic features of all the 59 fetuses with PA/VSD included :the right aortic arch ( n ＝19 ) ,reversal flow in the ductus arteriosus ( n ＝40 ) ,M APCAs ( n ＝24) . T he classification of the PA/VSD included :type A ( n ＝35) ,type B ( n ＝5) and type C ( n ＝19) . Associated anomalies :persistent left superior vena cava ( n ＝ 13 ) ,anomalous pulmonary vein connection ( n＝5 ) ,complete atrioventricular septal defect ( n ＝ 5 ) ; single umbilical artery ( n ＝ 3 ) ,right atrial isomerism ( n ＝3) . Of all the 30 cases performed chromosomal test ,3 cases had aneuploidy and 7 cases had microdeletion of chromosome . Conclusions The fetal echocardiographic findings of the PA/VSD are characteristic . For prenatal diagnosis of PA/VSD ,the type of PA/VSD should be defined and chromosomal test should be performed ,w hich can be helpful for prenatal consulting .

Prenatal echocardiography in diagnosis of fetal cardiac tumors / 中国医学影像技术

Objective To observe the echocardiographic characteristics,genetic test and outcome of fetal cardiac tumors.Methods Echocardiographic data of 55 fetuses with cardiac tumors were retrospectively analyzed,and the echocardiographic characteristics were observed.Pathological and genetic test were performed on terminated fetuses.Peripheral blood was obtained from newborns for genetic test,and followed up was performed.Results In 55 fetuses with cardiac tumors,37 fetuses were terminated,7 fetuses were delivered and 11 fetuses were lost in follow-up.Solitary tumor was found in 14 fetuses,while multiple tumors were detected in 41 fetuses.Pathological examination was performed on 28 fetuses after termination,and 27 rhabdomyomas and 1 hemangioma were diagnosed.Fetal rhabdomyomas were found hyperechogenic,well demarcated and ovoid lesion,located at atrial and ventricular wall without blood flow with ultrasound.Tuberous sclerosis complex (TSC) genetic test was made in 24 terminated fetuses,and 19 positive and 5 negative results were obtained.In 7 newborns,spontaneous tumor regression occurred in 4 and tumor persistent in 3,while TSC genetic test positive in 2 and negative in 1 were detected.Conclusion Rhabdomyoma is the most common cardiac tumor in fetuses.Fetuses with multiple rhabdomyomas might be highly suspected of TSC,and then genetic test should be suggested.

Predisposing causes and echocardiographic findings of fetal cardiac calcifications / 中国医学影像技术

Objective To discuss the predisposing causes and echocardiographic findings of abnormal cardiac calcifications in fetuses.Methods The echocardiographic and pathological data of 12 fetuses with abnormal cardiac calcifications were retrospectively reviewed,and the pregnancy outcome,predisposing cause and echocardiographic features were analyzed.Results Associated maternal positive anti-SSA/SSB antibody was found in 8 fetuses.The echocardiographic findings of these 8 fetuses were extensive hyper-echogenic thickened atrial wall,interatrial septal and atrioventricular roof.Cardiac myocardium dystrophic calcification was found in 3 fetuses with focal or extensive hyper-echogenic of myocardium.Idiopathic infantile calcification with thickening and hyper-echogenic wall of main pulmonary artery and aorta with obvious stenosis of artery were observed in 1 fetus.One fetus with dystrophic myocardium calcification was continued in pregnancy,1 maternal anti-SSA/SSB antibody (+) baby was born,and 10 fetuses were terminated.Conclusion Maternal anti SSA/ SSB antibody (-) is predominantly associated with fetal cardiac calcification.Fetal abnormal cardiac calcification with different predisposing causes have different echocardiographic features.

Fetal aortic arch and its branches anomalies: prenatal ultrasound, vascular cast and gene detection / 中华超声影像学杂志

Objective@#To explore the application values of prenatal ultrasound, vascular cast in the diagnosis of fetal aortic arch and its branches anomalies and to analyze the genetic characteristics by gene detection.@*Methods@#Twenty-two cases of the vascular cast specimens of the fetal aortic arch and its branches anomalies were analyzed and studied by comparing with their prenatal ultrasonography. Then the characteristics of each type of fetal aortic arch and its branches anomalies, the missed diagnosis and misdiagnosis were summarized and the results of their gene detection were also analyzed.@*Results@#The 22 cases of fetal aortic arch and its branches anomalies were as follows: 2 cases of double aortic arch showed the ascending aorta was divided into two branches after converging as the descending aorta. Three cases were left aortic arch with aberrant right subclavian artery. Twelve cases were right aortic arch: 8 cases were right aortic arch with mirror-image branching, 3 cases were right aortic arch with aberrant left subclavian artery, 1 case was right aortic arch with isolated left subclavian artery. Of the 8 right aortic arch with mirror-image branching, 3 cases of left arterial duct showed the vertical walking between the fusion site of the left innominate artery and the pulmonary artery. Right aortic arch with aberrant left subclavian artery with arterial duct showed "U" shaped vascular ring. Five cases were other types, including 2 cases of the coarctation of aortic arch, 1 case of interrupted aortic arch, 1 case of pulmonary artery sling, and 1 case of abnormal origin of right pulmonary artery. The ultrasonic missed diagnosis were the 6 deformities: 3 cases of arterial duct and 3 cases of aberrant subclavian artery. The ultrasonic misdiagnosis were the 5 deformities: 2 cases of arterial duct location, 1 case of aberrant subclavian artery, 1 case of isolated left subclavian artery, and 1 case of the coarctation of aortic arch. Genetic test results: In the 18 cases of the genetic detection, 2 cases were positive, 1 case was 22q11.2 microdeletion syndrome and 1 case was carrying KMT2D gene variant.@*Conclusions@#There are various kinds of fetal aortic arch and its branches anomalies, which are often associated with intracardiac malformations and venous branches variation. And prenatal ultrasound is of great value in diagnosing them.Vascular cast can visually display their characteristic changes, which is helpful to improve the differential diagnosis of the different aortic arch and its branches anomalies. The detailed genetic detection can improve the further understanding of its etiology.

Analysis of chromosomal abnormalities in 107 fetuses with conotruncal defects using low coverage whole-genome sequencing / 中华围产医学杂志

Objective To investigate chromosomal abnormalities in fetuses with conotruncal defects(CTD).Methods From January 2013 to February 2017,107 fetuses (singleton pregnancy) prenatally diagnosed as CTD in Beijing Anzhen Hospital were enrolled.Umbilical cord specimens of these fetuses were collected after termination of pregnancy and analyzed by low coverage whole gene sequencing to detect chromosomal aneuploidy and copy number variations.Types of chromosomal abnormalities in these cases were analyzed.Chi-square test was used for statistical analysis.Results Twenty-two cases (21％,22/107) were identified with chromosomal abnormalities.The most common seen chromosomal abnormalities were found in those with interrupted aortic arch (2/2),followed by those with tetralogy of Fallot and pulmonary atresia/stenosis accompanied with ventricular septal defect (28％,12/43).No chromosomal abnormalities were detected in fetuses with aortopulmonary septal defect (0/2).Differences were shown in the detection rates of chromosomal abnormalities among different types of CTD (x2=12.744,P=0.026).Among the 22 fetuses with chromosomal abnormalities,there were seven with abnormal aneuploidy (three trisomy-13s,two trisomy-18s,one trisomy-21 and one 45,X) and 15 with pathogenic copy number variations [11 cases with 22q11.2 microdeletion syndrome,two with 17p12p11.2 microdeletion (Smith-Magenis syndrome),one with 8p23.3p21.3 microduplication and one with 2p23.1p25.2 microdeletion].Of the 15 cases with pathogenic copy number variations,12 segments of microdeletion/microduplications were de novo and one was paternally inherited,while the causes of the other two were not clear because their parents refused chromosomal testing.Conclusions Fetal CTD are likely to be accompanied with aneuploidy abnormalities and chromosome microdeletions/microduplications and the detection rate of chromosomal abnormalities varied with the type of CTD.Microdeletion and microduplication,especially de novo microdeletions/duplications,are the common chromosomal abnormalities.Chromosome analysis is recommended for fetuses prenatally diagnosed with CTD.

Echocardiographic characteristics and pregnant outcome in fetuses with complete closure of the ductus arteriosus / 中华超声影像学杂志

Objective To explore the echocardiographic features and pregnant outcomes in fetuses with complete closure of the ductus arteriosus ( DA) . Methods The echocardiographic data and follow-up materials were retrospectively reviewed in 28605 fetuses . Of all the fetuses ,6 fetuses had complete closure of the DA . The echocardiographic features and pregnant outcomes of the 6 fetuses with complete closure of the DA were summarized . Results Of all the 6 fetuses ,4 cases were found in the third trimester and 2 cases in the second trimester . There was no the lumen of the DA in the three vessel view on the two dimensional echocardiography ,demonstrating the line-like low echogenicity in the DA area . No DA flow signal was found on the color and spectral Doppler imaging . Four cases had dilated right heart .Six cases had thickened wall of the right ventricle ( WRV ) ,and hypokinetic motion of the WRV . Moderate to severe tricuspid regurgitation were found in 5 cases and disappeared or reversal a-wave of the ductus venosus were found in 5 cases . The mild pericardial effusion was found in 2 cases . Of all the 6 cases ,4 cases were delivered by cesarean section and the echocardiographic findings were unremarkable at the follow -up of six months . Conclusions Intrauterine complete closure of the DA can be accurately diagnosed by fetal echocardiograph in the 2-3 trimesters . If indicated ,elective delivery results in good outcome .

Study on the Quality Standard of Miao Medicine Indigofera stachyoides / 中国药房

OBJECTIVE:To establish the quality standard for Mian medicine Indigofera stachyoides. METHODS:Medicinal properties and microscopic characteristics were identified;TLC was used for the qualitative identification;HPLC was conducted for content determination of epicatechin and 2α,3α-epoxy-5,7,3′,4′-tetra-hydroxy-flavan-(4β→8)-epicatechin(reference A):the col-umn was Comatex TM C18 with mobile phase of acetonitrile- water at a flow rate of 1.0 ml/min,and detection wavelength was 210 nm,column temperature was 30 ℃,injection volume was 5 μl. RESULTS:It showed clear microscopic identification map. I. stachyoides TLC had clear spots and well separated. The linear range was 0.274 5-4.392 0 μg (r=0.999 6) for epicatechin,and 0.103 0-1.648 3 μg for reference A(r=0.999 4),RSDs of precision,stability and reproducibility tests were lower than 3%,recov-eries were 99.76%-104.82%(RSD=2.42%,n=6) and 97.98%-104.99%(RSD=2.75%,n=6) respectively. CONCLUSIONS:The established standard can be used for the quality control of I. stachyoides.

Clinical application value of echocardiography combined with genetic testing in fetal cardiac rhabdomyoma / 中华妇产科杂志

Objective To investigate the clinical value of echocardiography combined with genetic testing in the fetal cardiac rhabdomyoma. Methods Thirty-three fetal cardiac rhabdomyoma cases diagnosed by fetal echocardiogram in Beijing Anzhen Hospital from Jan. 2011 to Oct. 2015 were enrolled in a retrospective analysis. The results of other examination and pregnancy outcomes of them were followed up, the genetic characteristics of cardiac rhabdomyoma were summarized on the basis of pathology and genetics examination results. Results The pregnancy outcomes:24 cases were terminated pregnancy, 4 cases were born and 5 cases were lost. The results of ultrasound, pathology and genetic examination were detailed in 8 cases. Pathological examination: the typical characteristics of cardiac rhabdomyoma were found in the 8 cases with cardiac rhabdomyoma. The tumor tissue was composed of irregular and swelling shape of cardiomyocytes, and the cytoplasm was vacuole like, which was characteristic of“spider like cells”through microscopic observation. The geneticdetection results: 7 cases had tuberous sclerosis complex (TSC) gene mutation, TSC gene abnormalities were not detected in 1 case. Among the 7 cases with TSC gene mutations, 6 cases were with TSC2 gene mutation and the other 1 case was with TSC1 gene mutation. The family gene was investigated in the 5 cases, which including 3 cases of TSC gene mutation in mother passed on to the fetus (1 case with family of three generations of genetic) and 2 cases of spontaneous TSC gene mutation in the fetus. Conclusions Prenatal echocardiography combined with genetic detection have important clinical significance, which not only can clear if cardiac rhabdomyomas were associated with TSC, but also can clear the TSC gene mutation source. So as to further guide the perinatal management.

Echocardiographic diagnosis and genotyping of antenatal cardiac rhabdomyoma / 中华围产医学杂志

ObjectiveTo analyze the echocardiographic features of antenatal cardiac rhabdomyoma, and the significance of genotyping in tuberous sclerosis complex (TSC).MethodsFrom January 2013 to September 2015, 10 out of 7 559 fetal cases tested in the Maternal-Fetal Medical Center for Fetal Heart Diseases, Anzhen Hospital who were suspected of cardiac rhabdomyoma, with biological specimens, were enrolled in the analysis. Heart tissue, umbilical cord, deltoid or other tissues were collected from eight fetuses of terminated pregnancy, and peripheral blood was collected from the two newborns and their parents. Next generation sequencing using target area capture technology was performed to sequenceTSC1 andTSC2 gene exon intron and its adjacent 10 bp, and Sanger sequence was confirmed in parents.ResultsAmong the 10 fetuses, four were familial and the other six were sporadic cases. Echocardiography revealed a single tumor in two fetuses, and multiple tumors in eight fetuses. No mutation ofTSC1 orTSC2 gene was detected in the two fetuses with isolated tumors, while mutations were found in the other eight fetuses, including two cases of known mutations and both were familial, four cases of new suspected mutations (two were familial), one with unknown clinical significance and one was suspected of benign variation.ConclusionsMost prenatal cardiac tumors detected by echocardiography are TSC, and often manifested as multiple solid nodules. Pathogenic or suspected pathogenic gene mutations are more common in familial diseases.

Efficacy of vitrectomy for vitreous amyloidosis / 中华实验眼科杂志

Background Vitreous amyloidosis is an autosomal dominant hereditary disease,often leads to reduction of visual acuity and affects life quality of patients.Vitrectomy is the main treatment for vitreous amyloidosis,but the analysis of curative efficacy in China is rarely reported.Objective The study was to observe and analyze the efficacy of vitrectomy for vitreous amyloidosis.Methods The clinical data of 11 eyes from 6 patients with vitreous amyloidosis who received vitrectomy from March 2011 to February 2013 in Affiliated Hospital of Guizhou Medical University.The best corrected visual acuity (BCVA),intraocular pressure (IOP),manifestations under the slit lamp microscope,findings of ocular fundus and results of fundus fluorescence angiography (FFA) were observed after surgery.Pathological examination for vitreous samples was carried by Congo red staining.Results Before surgery,the visual acuity was counting fingers for 30 cm in 5 eyes and hand movement for 30 cm in 6 eyes,and the mean IOP was (13.09±2.12)mmHg (1 mmHg=0.133 kPa).Fixed white flocks in vitreous and white membrane on the posterior lens capsule were seen under the slit lamp microscope.The BCVA remained 1.0 in 7 eyes and 0.8 in 4 eyes 1 week,6 months and 2 years after vitrectomy,and the mean IOP was (13.32±2.07),(14.09±2.47),(12.32±1.87)mmHg at 1 week,6 months and 2 years after vitrectomy,respectively.FFA showed a little fluorescein leakage at peripheral retinal vessel in all eyes at 1 week after vitrectomy but the leakage disappeared at 6 months after vitrectomy.The white flocks increased at peripheral retina in 4 eyes at 2 years after vitrectomy,but the BCVA remained the same in the eyes.Pathological examination of vitreous specimens comfirmed the diagnosis of vitreous amyloidosis.Conclusions Vitrectomy is an effective method for the treatment of vitreous amyloidosis,which can effectively improve the visual acuity of patients.Postoperative recurrence of vitreous amyloidosis appear in parts of patients,but the BCVA is unaffected.

Echocardiographic features of arrhythmogenic right ventricular cardiomyopathy:analysis of misdiagnosis and miss diagnosis / 中华超声影像学杂志

Objective To evaluate the value of echocardiography on the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC),and to improve the diagnositic accuracy of ARVC by echocardiography.Methods According to the 2010 European Heart Association guideline,twenty-one patients with ARVC were diagnosed from September 2003 to June 2014.The patients were divided into four groups (confirmed,suspiciously diagnosis,miss diagonisis,misdiagnosis) and the echocardiographic features were retrospectively analyzed including the right ventricular (RV) movement,the diameter of RV outflow tract (RVOTd),fractional area change of RV (RVFAC),the severity of tricuspid regurgitation (TR) and peak pulmonary artery systolic pressure (PASP).Results Of 21 patients,15 (71.4％) were confirmed by echocardiography,which had the typical ARVC echocardiographic features including the hypokinetic,akinetic or aneurysm of RV,dilation of RVOTd [mean RVOTd (40 ± 3)mm],and RV FAC＜33 ％ [mean (21 ± 7)％].TR were noticed in all the 15 patients but the PASP were normal [mean (27 ± 9)mmHg,1 mmHg =0.133 kPa].Three (14.3％) were suspiciously diagnosed which had the RV wall hypoakinetic,1 with pure RVOTd dilation and 2 with RV and RVOTd dilation,all 3 patients had mild TR,33％＜RVFAC ≤40％ and PASP were in normal range.Two patients had normal echocardiography which was miss diagnosed,one patient was misdiagnosed as dilated cardiomyopathy.Conclusions The different stages of ARVC patients had different echocardiographic features,the patients were easily diagnosed when the ARVC patients in RV failure stage.But for the early and late stage,the diagnosis should combine the clinical manifestation and other imaging facilities to avoid miss diagnosis and misdiagnosis.