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OBJECTIVE@#To explore the genetic basis for a patient with aortic root aneurysm and valve insufficiency.@*METHODS@#The patient was subjected to whole exome sequencing (WES) with a focus on the analysis of genes related to aortic aneurysm and other genetic diseases involving the cardiovascular system. Suspected pathogenic site was validated by Sanger sequencing of the patient and his family members.@*RESULTS@#WES has revealed a heterozygous c.830T>C variant (NM_001130916.3) in the patient, which was not detected among healthy members of his family. SIFT, PolyPhen2 and Mutation Taster predicted the variant to be disease causing, resulting in destruction of the structure and function of the TGFBR1 protein. Based on the American College of Medical Genetics and Genomics (ACMG) guidelines, the variant was predicted to be likely pathogenic (PM1+PM2+PM6+PP3+PP4).@*CONCLUSION@#The c.830T>C variant of the TGFBR1 gene probably underlay the disease in the proband. Above finding has enriched the spectrum of TGFBR1 gene variants in Chinese population.
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Humans , China , Echocardiography , Loeys-Dietz Syndrome/genetics , Mutation , Pedigree , Receptor, Transforming Growth Factor-beta Type I/genetics , Exome SequencingABSTRACT
Objective: To analyze the echocardiographic features of Behcet's disease misdiagnosed as infective endocarditis and the causes of misdiagnosis. Methods: Clinical data of patients with Behcet's disease involving cardiovascular system were analyzed retrospectively and the clinical and echocardiographic features of these patients were summarized. Results: Among the 12 patients with Behcet's disease, 9 cases were preoperative cardiac surgery patients and 3 cases were postoperative cardiac surgery patients. All the 9 patients showed severe aortic regurgitation, including 3 cases with aortic perivalvular abscess, 4 cases with aortic valve vegetation, 2 cases with aortic perivalvular abscess and vegetation formation. Perivalvular leakage of aortic valve was found in 3 patients after cardiac surgery, including 1 case of aortic valve vegetation formation, 1 case of perivalvular abscess, 1 case of perivalvular abscess and vegetation formation. Conclusion: It is difficult to diagnose Behcet's disease combined with aortic valve insufficiency with vegetation-like mobile lesions, an echo-free space mimicking aortic root abscess. If the patients with history of recurrent oral aphthosis, genital aphthosis or ocular lesions, the possibility of cardiac Behcet's disease should be suggested.
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To evaluate the relationship between atherosclerosis and hemodynamic of coronary artery in mice detecting by ultrasound bio‐microscopy flow imaging . Methods Double 14 20‐week‐old LDL‐R‐/‐and C57BL/6 male mice were selected ,and randomly divided into two groups in each genotype according to weight . Each two groups were fed to 28 weeks or 36 weeks age respectively with west diet . Coronary artery hemodynamics in these mice were assessed in vivo by Vevo ?2100 ultrasound imaging system ,then the intima‐media thickness( IM T ) of aorta in histopathology were analyzed . T he differences of coronary artery hemodynamic parameters such as maximum velocity ( Vmax ) ,mean velocity ( Vmean) and velocity time integral ( V T I) were compared between mice of different genotypes of the same week and mice of different weeks of the same genotype . And the relationship between coronary artery hemodynamic in ultrasound and aortic IM T in histopathology were analyzed . Results ① All coronary hemodynamic parameters in LDL‐R‐/‐ mice were significantly lower than those of wild‐type mice except the Vmax between two 28‐week‐old genotypes group at the same weeks of age of different genotypes ( all P ＜0 .05) . But there was no significant difference in coronary artery hemodynamic parameters between mice of the same genotype at different weeks of age( P ＞0 .05) . ②T he histopathological measurements of aortic IM T in LDL‐R‐/‐mice were significantly higher than those of wild type mice ( all P ＜ 0 .05 ) ,and those of 36‐week‐old mice were significantly higher than those of 28‐week‐old mice ( all P ＜ 0 .05 ) . ③ All coronary hemodynamic parameters such as Vmax ,Vmean and V TI were negatively correlated with pathological measurements of aortic IM T ( r ＝ －0 .532 , －0 .423 , －0 .524 ; all P ＜ 0 .05 ) . Conclusions The parameters of coronary artery hemodynamics obtained by ultrasound bio‐microscopy are well correlated with the pathological results of atherosclerosis . Ultrasound bio‐microscopic flow imaging can be used as a new method to evaluate the degree of atherosclerosis in mice by detecting the hemodynamic parameters of coronary artery .
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Objective To explore the value of layer-specific strain in assessment of left ventricular function in patients with heterozygous familial hypercholesterolemia (HeFH) with normal left ventricular ejection fraction (LVEF).Methods Thirty-four patients with diagnosed HeFH and underwent transthoracic echocardiography were included as HeFH group,while 29 healthy volunteers were taken as control group.EchoPAC software was used to obtain endocardial longitudinal strain (LSendo),myocardial longitudinal strain (LSmyo) and epicardial longitudinal strain (LSepi) of the epicardial,and then statistical analysis was performed.Results LSendo and LSmyo in HeFH group were significantly lower than those in control group (P＜0.001).LSendo and LSmyo were negatively correlated with total cholesterol and low density lipoprotein cholesterol (all P＜0.05).Conclusion Layer-specific strain of left ventricular is of great value in assessing early myocardial damage in patients with HeFH.
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Objective@#To investigate the upper limit of the normal value of arsenic in healthy adult population in different areas of Guangxi.@*Methods@#From 2015 to 2016, 1533 subjects from 14 counties and cities in Guangxi were collected by age, gender, stratified random sampling and questionnaire survey. 1417 urine samples with satisfactory urine quality and complete information were collected.The content of arsenic in urine was determined by atomic fluorescence spectrometry.@*Results@#The upper limit of normal arsenic in healthy adults in guangxi was 0.053 mg/L. Male urinary arsenicP50(0.011mg/L)was higher than that of the female(0.008mg/L), the difference was statistically significant(Z=5.352,P<0.01). Smoking urinary arsenicP50(0.012mg/L) was higher than that of nonsmokers(0.009mg/L), the difference was statistically significant(Z=3.404,P<0.01). GroupP50 urine arsenic in coastal areas(0.012mg/L) the crowd was higher than that in non coastal areas(0.009mg/L), the difference was statistically significant(Z=-7.522,P<0.01).@*Conclusion@#The upper limit of normal arsenic in healthy adults in Guangxi area is 0.053mg/L,and there are differences in the levels of arsenic in healthy adults, such as different genders and regions.
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Objective@#To investigate the normal urinary manganese value in healthy adults in Guangxi, China and its distribution characteristics.@*Methods@#From 2015 to 2016, stratified random sampling based on age and sex was performed to select 1533 healthy adults aged 18-60 years in Nanning,Liuzhou,Guilin,Hezhou,Wuzhou,Yulin,Guigang,Beihai,Qinzhou,Laibin,Hechi Nandan,Bose Jingxi,Chongzuo Daxin,and Fangchenggang.All of them had no history of occupational manganese exposure or acute or chronic liver/renal diseases and had lived in the local area for more than one year. A total of 1417 urine samples with normal specific gravity and complete data were obtained, and graphite furnace atomic absorption spectrometry was used to measure urinary manganese.The distribution characteristics of urinary manganese level were analyzed among adults with different ages,sexes,or presence or absence of smoking habits or among those who lived or did not live in the mining area.@*Results@#The geometric mean of urinary manganese among healthy adults in Guangxi was 0.52 μg/L,and the upper limit of normal was 5.68μg/L. There was no significant difference in urinary manganese level between the healthy adults with different ages, sexes,or presence or absence of smoking habits (P>0.05).The healthy adults who lived in the mining area of nonferrous metal mines had a significantly higher geometric mean of urinary manganese than those who did not live in such areas(1.65μg/Lvs0.34μg/L,P<0.01).@*Conclusion@#The upper limit of normal of urinary manganese is 5.68 μg/L among healthy adults in Guangxi,and the healthy adults who live in the mining area of manganese mine or nonferrous metal mines have a significantly higher urinary manganese level than those who do not live in such areas.
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Objective To evaluate the different change in atherosclerosis between apolipoprotein E knockout ( ApoE-/-) mice and low density lipoprotein receptor knockout ( LDL-R-/-) mice in different diet by vivo ultrasound biomicroscopy(UBM) . Methods Thirty-two 8 weeks age ApoE-/- mice and twenty-eight 20 weeks age LDL-R-/- mice were selected ,and each mouse model were divided into four groups randomly according to weight . Two groups of each model were fed with normal diet for 8 weeks and 16 weeks respectively as general groups ,and two other groups were fed with west diet as high-fat groups . Intima-media thickness ( IM T ) in the aortic root of all groups were assessed by Vevo 770 UBM , and all measurementsofUBMwerecomparedwithhistopathologyandblood-fat.Results ①Thickenwallor plaque in aortic root showed by UBM and histopathology could be found in ApoE-/- mice in all diet conditions ,but the changes in LDL-R-/- mice only could be found in high-fat diet conditions;② IM T of ApoE-/- mice measured in histopathology were significantly higher than LDL-R-/- mice in all diet condition ( P<0 .05) ,but in UBM ,the IMT of ApoE-/- mice showed significantly higher than that of LDL-R-/- mice only in general diet groups and 8 weeks high-fat diet group ( P <0 .05) ;③In blood-fat ,the total cholesterol ( TC) in ApoE-/- mice were significantly higher than that of LDL-R-/- mice in all diet conditions ( P <0 .05) . But triglyceride ( TG) was higher only in general diet when it was compared between ApoE-/- mice and LDL-R-/- mice . Conclusions It is recommend to select ApoE-/- mice as animal model in atherosclerosis study rather than LDL-R-/- mice ,because the higher serum TC and higher susceptible of atherosclerosis in ApoE-/- mice . The west diet is necessary if LDL-R-/- mice was used to atherosclerosis study .
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Objective To evaluate the application of M-mode echocardiography and Doppler echocardiography in diagnosing complete atrioventricular block (CAVB) in fetus. Methods M-mode and Doppler echocardiography were used to screen the fetuses and bradycadia was established as CAVB in 10 cases. Atrial and ventricular rhythm was measured by M-mode echocardiography. Flow of mitral valve, left ventricular in-flow and out-flow tract, venous duct was measured by Doppler echocardiography. The characteristics and prognoses of CAVB fetus were compared and analyzed. Results CAVB was established as independence in rhythm of atrium and ventricle. The rhythm of atrium could be in normal range, while the rhythm of ventricle should be slower than normal. Enlarged chambers were observed in 6 cases, cardiac dysfunction in 5 cases, and pericardial effusion in 7 cases. Tricuspid regurgitation and mitral regurgitation existed in 5 and 1 case, respectively. All of the CAVB fetus in this study underwent abortions. Conclusions Fetal echocardiography is proven to be a useful tool to diagnose CAVB, which greatly influenced the cardiac function in fetuses. Clear diagnosis as early as possible is crucial to the treatment of CAVB fetus.
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Green tea is a drink made from the steamed and dried leaves of the Camellia sinensis plants.Green tea contains a number of bioactive chemicals,including polyphenols that exert anticancer and antioxidant properties.Many studied have shown that green tea polyphenols have neuroprotective effect in cerebral ischemia through the mechanisms of antioxidant,antiapoptosis,and reducing brain edema.
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Objective To investigate the evaluation value of spatiotemporal image correlation (STIC) on fetal cardiac systolic function .Methods The fetal cardiac cycle images were collected by the four-dimensional(4D) STIC ultrasound technique in 160 normal singleton pregnancies .The virtual organ computer-aided analysis(VOCAL) technique was used to measure the ventricular end-systolic volume (VESV) and ventricular end -diastolic volumes(VEDV) .The stroke volume(SV) ,ejection fraction(EF) and cardiac output(CO) were calculated .Results VESV ,VEDV together with SV and CO in normal pregnancy were increased with gestation week increase .EF remained constant with advancing gestational week .VESV ,VEDV ,SV ,CO and EF of right ventricle were all larger than those of the left ventricle .Conclusion The fetal cardiac systolic function in normal pregnancy is increased with gestational age increase ,the right heart systolic function is superior to the left heart .
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Objective To evaluate the value of ultrasound biomicroscopy (UBM) in assessment of atherosclerosis in apolipoprotein E (ApoE) knockout mice feeding with western diet.Methods Sixteen ApoE knockout mice in 8 weeks age were selected,then divided into two groups.One group was fed with west diet as high-fat group,and another group was fed with normal diet as control group.Intima-media thickness (IMT) and plaque area in the aortic root were assessed by UBM in two groups after 8 weeks and 16 weeks.And the measurements of UBM were compared with results of histopathology and blood-fat.ResultsThicken wall and plaque could be find in aortic root in control group and high-fat diet group byUBM.IMT and plaque area in high-fat diet group was significantly higher than those of control group ( P ＜ 0.05).The IMT and plaque area in UBM were good correlation with histopathology ( rwas 0.81 and 0.70 respectively).The triglyceride(TC) and total cholesterol in high-fat diet group was significantly higher than those of control group ( P ＜0.05),and IMT in UBM were increased with the elevated level of TC,there was a positive correlation between IMT and TC( r =0.528).ConclusionsWestern diet can accelerate the process in formation of atherosclerotic plaque in ApoE knockout mice.UBM can be used to observe this prograss noninvasively in vivo mice.