Early Diagnosis of Abnormal Left Ventricular Systolic Functions of Rare Pathogenic Titin Mutation Gene Carriers in FHCM by Three-Dimensional Speckle Tracking Echocardiography Combined with Gene Detection.

Objective: This study aimed to explore the early diagnosis of abnormal left ventricular systolic function of rare pathogenic titin (TTN) mutation gene carriers in familial hypertrophic cardiomyopathy (FHCM) by three-dimensional speckle tracking echocardiography (3D-STE) combined with gene detection. Methods: Eighteen members of a Hui nationality family in Ningxia province of China were enrolled in this study in July 2019. The proband was tested with high-throughput sequencing of gene detection technology to detect the whole exome, and the mutation locus of pathogenic TTN gene was analyzed. According to the result, 16 subjects were divided into two groups: carrier group (n = 4) and noncarrier group (n = 12). Related indicators from 2DE were obtained, and myocardial strain indicators from 3D-STE were analyzed by postprocessing software of Tomtec. Strain indicators included global longitudinal strain (GLS), global circumference strain (GCS), global radial strain (GRS), regional longitudinal strain (RLS), regional circumference strain (RCS), and regional radial strain (RRS). All those indicators were compared between the two groups, and a receiver operating characteristic (ROC) curve was used for further analysis. Results: There were 4 subjects diagnosed as asymptomatic TTN gene carriers with the mutation locus of Val135643Ile. Compared with the noncarrier group, GLS and partial RLS were significantly reduced in the carrier group. The ROC curve shows that GLS has the largest AUC, and its sensitivity was better than LVPWD and specificity was better than IVSD and LVMI obtained from 2DE in the carrier group. Conclusions: There were 4 subjects diagnosed as asymptomatic TTN gene carriers with the mutation locus of Val135643Ile, and their GLS and partial RLS were significantly reduced; GLS had the better sensitivity and specificity than LVPWD, IVSD, and LVMI.

[Value of three-dimensional speckle-tracking imaging in evaluating left ventricular systolic function and its correlation with peripheral arterial elasticity in children with simple obesity: a prospective study]. / ä¸‰ç»´æ–‘ç‚¹è¿½è¸ªæˆåƒæŠ€æœ¯å¯¹å•çº¯æ€§è‚¥èƒ–å„¿ç«¥å·¦å¿ƒå®¤æ”¶ç¼©åŠŸèƒ½çš„è¯„ä»·åŠå ¶ä¸Žå¤–å‘¨åŠ¨è„‰å¼¹æ€§ç›¸å ³æ€§çš„å‰çž»æ€§ç ”ç©¶.

OBJECTIVES: To study the application of three-dimensional speckle-tracking imaging in evaluating left ventricular systolic function and its correlation with peripheral arterial elasticity in children with simple obesity. METHODS: Random sampling combined with convenience sampling was used to obtain research samples, and then the samples were divided into an obesity group (23 cases), an overweight group (21 cases), and a normal group (24 cases). Three-dimensional speckle-tracking imaging was used to measure the global longitudinal strain (GLS), global radial strain (GRS), and global circumferential strain (GCS) of the left ventricle. An automatic arteriosclerosis tester was used to measure ankle-brachial index (ABI) and brachial-ankle pulse wave velocity (baPWV). These parameters were compared among the three groups. The correlation of three-dimensional speckle-tracking parameters with ABI and baPWV was evaluated. RESULTS: There were no significant differences in GLS, GRS, and GCS between the obesity and normal groups (P>0.05). The overweight group had a significantly higher GLS than the normal group [(-24±7) vs (-19±12), P<0.05]. The obesity and overweight groups had a significantly lower ABI than the normal group [(1.00±0.09)/(1.09±0.13) vs (2.25±0.13), P<0.05). The obesity group had a significantly higher baPWV than the normal group [(978±109) vs (905±22), P<0.05]. In the children with obesity, GLS was positively correlated with baPWV (r=0.516, P<0.05) , but not correlated with ABI (P>0.05), and GCS and GRS had no significant correlation with ABI or baPWV (P>0.05). CONCLUSIONS: There are varying degrees of changes in left ventricular systolic function and peripheral arterial elasticity in children with simple obesity, and there is a certain correlation between them.

The Application of Transesophageal Echocardiography in Mitral Valve Repair With Tendon Reconstruction.

Objective: To investigate whether tendon reconstruction during mitral valve repair can be effectively guided by transesophageal echocardiography (TEE), using the mid-esophageal bi-commissure view, bicaval view and the aortic valve-mitral valve transition short-axis view. Methods: A total of 40 patients that underwent mitral valve repair with artificial tendineae were recruited. Before the operation, conventional transthoracic echocardiography was used to determine whether mitral valve repair would be possible. Following intraoperative anesthesia, two-dimensional and three-dimensional TEE reconstructions were used to assess the state of the valve and tendon and to make a repair plan. Results: TEE accurately diagnosed single functional tendon rupture and predicted single artificial tendon implantation in 88% of cases (23/26). TEE accurately diagnosed single functional tendon rupture and predicted the implantation of two artificial tendons in 100% of cases (4/4). TEE accurately diagnosed two or more functional tendon ruptures and predicted the implantation of two artificial tendons in 100% of cases (5/5). The length of the tendon cord predicted by TEE (2.45 ± 0.15 mm) was not significantly different (P > 0.05) from the length of the cord that was actually implanted (2.31 ± 0.11 mm). TEE also accurately predicted the size of the annuloplasty ring in 86% of cases (33/38), with differences of 2 mm or less compared to the size of the ring that was actually implanted. Conclusion: Both the mid-esophageal bi-commissure view, bicaval view and the short-axis view of the aortic valve-mitral valve transition can reduce the difficulty of tendon reconstruction by helping to determine what length of tendon and what size of artificial annulus are required.

[Construction and Expression of Vector with mip/flaA Advantages Epitope Genes of Legionella pneumophila].

OBJECTIVE: To generate and express fusion vector with mip/flaA advantages epitope genes of Legionella pneumophila by select mip and flaA advantages epitope genes for future research on Legionella pneumophila protein vaccine. METHODS: Following analysis of secondary structure and surface properties such as: physical and chemical properties, hydropathy, plasticity, antigen index and extracellular domain of Mip and FlaA proteins by bioinformatics methods, the region which active epitope may exist was selected as advantages epitope region. Then, the recombinant plasmid pET-mip, pET-flaA and pET-mip/flaA with advantages epitope genes were constructed by PCR amplification and T4 ligase connection, and induced the expression in E. coli. RESULTS: Many potential antigenic epitopes in Mip and FlaA were identified, and the selected advantages epitope regions were cloned and expressed successfully. Moreover, the mip/flaA two advantages associated epitope fusion proteins were also successfully expressed. CONCLUSION: DNA Star software and Expasy online analysis system can successfully predict antigenic epitopes for Legionella pneumophila Mip and FlaA. And prokaryotic expression vector pET-mip/flaA with advantages epitope genes has been successfully constructed and efficiently expressed.

[Mechanism of biological actions of quercetin based on biomolecular network].

The mechanism of biological actions of quercetin was studied by using metabolomic method and biomolecular network. HPLC-MS was used to analyze the serum metabolome in rats of blank group and quercetin administration group rats, and MS data were processed by MATLAB software. With multivariate statistical analysis of serum metabolite profiles, a clear separation among blank group and quercetin administration group was achieved, potential biomarkers were selected according to the parameters of variable importance in the projection (VIP) and identified according to MS information and database retrieval. Four compounds, related enzymes, action targets and metabolic pathways had been confirmed, namely retinoic acid and RARbeta, arachidonate and COX-2, 3, 5-diodotyrosine and TPO, uridine diphosphate glucose and PDEs. The mechanism of quercetin enhancing ability of retinoic acid on the induction of RARbeta, activating TPO, using as COX-2 and PDEs inhibitor was approved by biomolecular network and related literatures. In this study, a mechanism of multiple biological actions of quercetin was evaluated at the level of the biomolecular network, metabolomics and biomolecular network can be used to investigate the biological effects mechanism of quercetin, which provided a new method to further revealing mechanism of drug action.