Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates / 中国当代儿科杂志

OBJECTIVES@#To explore the application of whole-genome sequencing (WGS) in the rapid clinical diagnosis of critically ill neonates.@*METHODS@#The critically ill neonates who admitted to the neonatal intensive care unit of Children's Hospital of Fudan University and underwent WGS from August to September, 2019 were enrolled in this prospective study. The genetic testing results and clinical outcome were analyzed with reference to the sequencing data and clinical features of the neonates.@*RESULTS@#A total of 15 neonates were tested, among whom there were 9 boys and 6 girls. The main reason for hospitalization included abnormal breathing in 7 neonates, poor response in 2 neonates, feeding difficulty in 2 neonates, fever in 1 neonate, hypothermia in 1 neonate, preterm birth in 1 neonate, and convulsion in 1 neonate. The mean turn-around time was 4.5 days for WGS. Finally a genetic diagnosis was obtained for 3 neonates, with a positive diagnostic rate of 20% (3/15). Among the 3 neonates, 2 neonates were withdrawn from the treatment due to severe conditions and 1 neonate died on the day when the sample was sent for genetic testing, whose etiology could be explained by the results of genetic testing.@*CONCLUSIONS@#WGS technique can provide a timely and effective diagnosis for critically ill neonates suspected of genetic diseases and provide genetic evidence for clinical treatment of critically ill cases.

Predictive value of the proportion of hibernating myocardium in total perfusion defect on reverse remodeling in patients with HFrEF underwent coronary artery bypass graft / 中华心血管病杂志

Objective: To evaluate the predictive value of the proportion of hibernating myocardium (HM) in total perfusion defect (TPD) on reverse left ventricle remodeling (RR) after coronary artery bypass graft (CABG) in patients with heart failure with reduced ejection fraction (HFrEF) by 99mTc-methoxyisobutylisonitrile (MIBI) single photon emission computed tomography (SPECT) myocardial perfusion imaging (MPI) combined with 18F-flurodeoxyglucose (FDG) gated myocardial imaging positron emission computed tomography (PET). Methods: Inpatients diagnosed with HFrEF at the Cardiac Surgery Center, Anzhen Hospital of Capital Medical University from January 2016 to January 2022 were prospectively recruited. MPI combined with 18F-FDG gated PET was performed before surgery for viability assessment and the patients received follow-up MPI and 18F-FDG gated PET at different stages (3-12 months) after surgery. Δ indicated changes (post-pre). Left ventricular end-systolic volume (ESV) reduced at least 10% was defined as RR, patients were divided into reverse remodeling (RR+) group and the non-reverse group (RR-). Binary logistic regression analysis was used to identify predictors of RR. Receiver operating characteristic (ROC) curve analysis was performed and the area under the curve (AUC) was calculated to assess the cut-off value for predicting RR. Additionally, we retrospectively enrolled inpatients with HFrEF at the Cardiac Surgery Center, Anzhen Hospital of Capital Medical University from January 2021 to January 2022 as the validation group, who underwent MPI and 18F-FDG gated PET before surgery. Echocardiography was performed before CABG and after CABG (3-12 months). In the validation group, the reliability of obtaining the cut-off value for the ROC curve was verified. Results: A total of 28 patients with HFrEF (26 males; age (56.9±8.7) years) were included in the prospective cohort. HM/TPD was significantly higher in the RR+ group than in the RR- group ((51.8%±17.9%) vs. (35.7%±13.9%), P=0.016). Binary logistic regression analysis revealed that HM/TPD was an independent predictor of RR (Odds ratio=1.073, 95% Confidence interval: 1.005-1.145, P=0.035). ROC curve analysis revealed that HM/TPD=38.3% yielded the highest sensitivity, specificity, and accuracy (all 75%) for predicting RR and the AUC was 0.786 (P=0.011). Meanwhile, a total of 100 patients with HFrEF (90 males; age (59.7±9.6) years) were included in the validation group. In the validation group, HM/TPD=38.3% predicted RR in HFrEF patients after CABG with the highest sensitivity, specificity and accuracy (82%, 60% and 73% respectively). Compared with the HFrEF patients in the HM/TPD<38.3% group (n=36), RR and cardiac function improved more significantly in the HM/TPD≥38.3% group (n=64) (all P<0.05). Conclusions: Preoperative HM/TPD ratio is an independent factor for predicting RR in patients with HFrEF after CABG, and HM/TPD≥38.3% can accurately predict RR and the improvement of cardiac function after CABG.

Anzhen hospital expert experience on perioperative treatment principles of cardiovascular surgery for patients infected with COVID-19 / 中华胸心血管外科杂志

The end of the COVID-19 infection peak in 2022 prompts a backlog of cardiovascular surgical patients to gradually return to the hospital, resulting in a surge in cardiovascular surgeries. However, against the backdrop of the COVID-19 pandemic, the clinical practice of cardiovascular surgery faces many problems. Therefore, organized by Beijing Anzhen Hospital, experts in cardiovascular surgery and related fields have formulated hospital expert experience on perioperative treatment principles of cardiovascular surgery for patients infected with COVID-19. This article summarizes the clinical decision-making of patients requiring cardiovascular surgery after COVID-19 infection, and advises on the corresponding recommendations according to the existing evidence-based medical evidence as well as the actual clinical practice experience of relevant experts. The main content of the article includes special requirements for cardiovascular surgical treatment indications in patients with COVID-19 infection, selection of surgical timing, special requirements of preoperative, intraoperative and postoperative management, etc., which aims to provide COVID-19-infected patients with guidance on rational decision-making when receiving cardiovascular surgery.

No-touch technique for harvesting saphenous vein in coronary artery bypass grafting and research progress / 中华胸心血管外科杂志

The saphenous vein has been one of the most commonly used vascular materials for coronary artery bypass grafting(CABG), but the low long-term patency of the vein grafts limits the surgical benefits of CABG. The traditional method of saphenous vein harvesting is more damaging to the venous structures, which has led to the development of no-touch saphenous vein harvesting techniques. In this paper, we review the clinical progress of no-touch saphenous vein in CABG and the potential mechanisms of this technique, to improve the patency of vein grafts by analyzing the latest literature and research progress at the domestic and international level.

An overview of research based on intestinal microecology to explore musculoskeletal attenuation diseases / 肠外与肠内营养

Sarcopenia,osteoporosis and osteosarcoporosis,which belong to the same category of musculoskeletal unit disease,seriously impair the homeostasis of the musculoskeletal system in the aging process of the human body.In recent years,researchers have applied various emerging technologies to conduct multi-disciplinary,multi-level and multi-dimensional research on musculoskeletal decay disease,and have come to realized that the disease involves complex biochemical and mechanical crosstalk,and the intestinal microecology has also aroused great interest in this crosstalk because of its profound impact on musculoskeletal health.In view of this,this paper takes the close relationship between intestinal microecology and musculoskeletal decay disease as the starting point,and under the guidance of the overall concept,we deeply analyzes the mechanism and regulatory information behind this relationship,and on this basis,we excavates the potential therapeutic targets for musculoskeletal decay disease,so that we can provide new ideas and strategies for the management of the disease in the context of the musculoskeletal subunit.

Advancement in the relationship between gut microbiota and coronary artery disease / 中国胸心血管外科临床杂志

@#Including gut microbiota and oral microbiota, various microorganisms in different human ecosystem constitute the human microbiota, which play an important role in human metabolism, immunity and maintaining microecological homeostasis. Abnormal changes in gut microbiota known as dysbiosis may lead to metabolic abnormalities and inflammatory changes, which are closely related to disease states including hypertension, diabetes, inflammatory bowel disease, and autoimmune diseases. The main cause of coronary artery disease is coronary atherosclerosis, a chronic and progressive inflammatory disease. Many evidences have shown that there is a correlation between gut microbiota and coronary artery disease. Therefore, we aim to review the relationship between gut microbiota and coronary artery disease, and discuss the possible research directions and application prospects.

Mid- and long-term efficacy of off-pump coronary artery bypass grafting in elderly patients with coronary artery disease complicated with moderate ischemic mitral regurgitation / 中国胸心血管外科临床杂志

@# Objective     To analyze the efficacy of off-pump coronary artery bypass grafting (OPCABG) in elderly patients with coronary artery disease complicated with moderate ischemic mitral regurgitation. Methods     The clinical data of patients aged≥70 years with coronary artery disease complicated with moderate mitral regurgitation, and undergoing OPCABG from January 2009 to January 2020 in Beijing Anzhen Hospital were retrospectively analyzed. The echocardiographic indicators of the patients were compared preoperatively, postoperatively before discharge and during the follow-up. Results     Finally 239 patients were enrolled. There were 136 males and 103 females, aged 74.1±3.2 years. Before postoperative discharge, 49 (20.5%) patients had no mitral regurgitation, 144 (60.3%) mild regurgitation, 46 (19.2%) moderate regurgitation, and 0 severe regurgitation. The area of mitral regurgitation was significantly improved (2.5±1.8 cm2 vs. 5.6±1.0 cm2, P<0.001). There were 10 (4.2%) patients of hospital death, 23 (9.6%) of low cardiac output, 3 (1.3%) of myocardial infarction, and 8 (3.3%) of nervous system injury after operation. As a result, 208 (90.8%) patients were followed up and the mean follow-up time was 3.4 years (range 1-9 years). The cumulative survival rates at postoperative 2, 4, 6, and 8 years were 95.8%, 88.0%, 78.4%, and 73.1%, respectively. Postoperative follow-up showed significant improvements compared with those before surgery in the area of mitral regurgitation, left ventricular ejection fraction, left ventricular end-diastolic and left ventricular end-systolic diameters (all P<0.05). Duirng the follow-up, the major adverse cardiac and cerebrovascular events were all cause death in 22 (10.6%) patients, including cardiac death in 17 (8.2%) patients, myocardial infarction in 7 (3.4%) patients, heart failure in 24 (11.5%) patients, cerebrovascular events in 11 (5.3%) patients, re-hospitalization due to heart disease in 23 (11.1%) patients, and none of the patients with myocardial infarction were revascularized. Conclusion     The mid- and long-term outcomes of OPCABG in the treatment for elderly patients with coronary artery disease complicated with moderate ischemic mitral regurgitation is good.

Risk factors of early death and long-term outcomes in myocardial infarction complicated with ventricular septal rupture / 中华老年医学杂志

Objective:To analysis the risk factors of early death and long-term outcomes of myocardial infarction complicated with ventricular septal rupture.Methods:A total of 135 patients with myocardial infarction complicated with ventricular septal rupture in Beijing Anzhen Hospital from January 2008 to December 2020 were retrospectively analyzed.According to the survival or death within 30 days after ventricular septal rupture, the patients were divided into the early survival group(n=71)and the early death group(n=64). The clinical characteristics of the two groups were observed, and the risk factors for early death group were analyzed.The long-term outcomes of the surgery group(n=69)and the non-surgery group(n=66)was analyzed.Results:The early mortality rate of patients with myocardial infarction complicated with ventricular septal rupture was 47.4%(64/135). Univariate analysis showed that age, sex, white blood cell count, platelet count, C-reactive protein level, left ventricular end-diastolic diameter, abnormal liver function, pulmonary infection, no surgery repair and Killip grade ≥3 were associated with early death as compared with the early survival group(all P<0.05). Multivariate regression analysis showed that no surgery repair( OR=16.103, 95% CI: 4.400-58.930, P<0.001)and Killip≥3 grade( OR=9.014, 95% CI: 2.506-32.428, P=0.001)and abnormal liver function( OR=5.171, 95% CI: 1.388-19.264, P=0.014)were independent risk factors for early death in patients with myocardial infarction complicated with ventricular septal rupture.During follow-up of 1.0 to 11.8(median 3.2)years, the 2-year and 10-year cumulative survival rates were significantly higher in the surgery group than in the non-surgery group(76.7% vs.16.7%, P<0.001; 73.1% vs.16.7%, P<0.001). Conclusions:No surgical repair, Killip grade ≥3 and abnormal liver function are independent risk factors for early death in patients with myocardial infarction complicated with ventricular septal rupture.The long-term outcomes of surgical treatment for myocardial infarction complicated with ventricular septal rupture is good.

Assessment of postoperative outcomes of radial artery as a sequential graft in coronary artery bypass grafting / 中华胸心血管外科杂志

Objective:To explore the perioperative effect of radial artery as a sequential graft in coronary artery bypass grafting(CABG).Methods:The clinical data and perioperative complications of 109 patients, who underwent radial artery(RA) or great saphenous vein(SVG) as a sequential graft during CABG from April 2020 to December 2020 in Beijing Anzhen Hospital, were analyzed, there were 86 males and 23 females, aged from 39 to 79 years, with an average of(61.1±8.0)years old. According to the graft materials, they were divided into the RA group(n=47) and SVG group(n=62).Results:There were no significant differences between the two groups in age, gender, comorbidities, echocardiographic results, transplant vascular indexes, coronary angiography results, and operation methods(on-pump or off-pump, use of left internal mammary artery, number and distribution of distal anastomoses)( P>0.05). There were also no significant difference between the two groups in ICU stay, postoperative hospital stay and drainage with 24 hours after CABG( P>0.05). The incidence of postoperative cerebrovascular events, postoperative infection and secondary thoracotomy in the RA group were higher than that in the SVG group. The incidence of myocardial infarction, postoperative ventricular arrhythmia and postoperative IABP assistance in the SVG were higher than that in the RA group, but the difference was not statistically significant( P>0.05). Conclusion:The application of radial artery as a sequential graft during CABG does not increase the risk of perioperative complications, and the patients recover smoothly.

Study of quantitative flow ratio-guided surgical coronary artery revascularization strategy / 中华胸心血管外科杂志

Objective:To explore the feasibility of applying quantitative flow ratio(QFR) to assess the degree of coronary artery functional stenosis before surgery, and to guide coronary artery bypass grafting(CABG) revascularization strategy.Methods:The study prospectively included a total of 154 patients who were electively treated with CABG in the 11th ward of the Department of Cardiac Surgery of Beijing Anzhen Hospital from January 2019 to September 2020, and their coronary angiography visually showed stenosis of the coronary artery to perform QFR analysis to know the diseased blood vessels. For functional stenosis, the surgeon was blinded to the results of QFR analysis before surgery. Collect its baseline data, perioperative data and recent clinical outcomes for summary analysis.Results:One year later, the coronary artery CTA showed that the occlusion rate of functionally significant disease(QFR<0.8) was 5.5%, and that of non-functionally significant disease(QFR≥0.8) was 15.6%. There was no difference in angina class or repeat interventions between patients with or without occluded bypass grafts.Conclusion:According to QFR analysis, coronary arteries with functional non-significant disease have a higher risk of grafts failure than those with functionally significant disease. For coronary arteries with negative QFR lesions, the risk of occlusion of arterial grafts is higher than that of venous. However, this finding is not significantly related to clinical prognosis, because patients with patency or occlusion of the grafts in non-significant lesions have not found excessive angina pectoris or repeated coronary interventions. QFR-guided selection of coronary surgery strategies is safe and feasible.

Course of disease and related epidemiological parameters of COVID-19: a prospective study based on contact tracing cohort / 中华预防医学杂志

Objective: To analyze the course of disease and epidemiological parameters of COVID-19 and provide evidence for making prevention and control strategies. Methods: To display the distribution of course of disease of the infectors who had close contacts with COVID-19 cases from January 1 to March 15, 2020 in Guangdong Provincial, the models of Lognormal, Weibull and gamma distribution were applied. A descriptive analysis was conducted on the basic characteristics and epidemiological parameters of course of disease. Results: In total, 515 of 11 580 close contacts were infected, with an attack rate about 4.4%, including 449 confirmed cases and 66 asymptomatic cases. Lognormal distribution was fitting best for latent period, incubation period, pre-symptomatic infection period of confirmed cases and infection period of asymptomatic cases; Gamma distribution was fitting best for infectious period and clinical symptom period of confirmed cases; Weibull distribution was fitting best for latent period of asymptomatic cases. The latent period, incubation period, pre-symptomatic infection period, infectious period and clinical symptoms period of confirmed cases were 4.50 (95%CI:3.86-5.13) days, 5.12 (95%CI:4.63-5.62) days, 0.87 (95%CI:0.67-1.07) days, 11.89 (95%CI:9.81-13.98) days and 22.00 (95%CI:21.24-22.77) days, respectively. The latent period and infectious period of asymptomatic cases were 8.88 (95%CI:6.89-10.86) days and 6.18 (95%CI:1.89-10.47) days, respectively. Conclusion: The estimated course of COVID-19 and related epidemiological parameters are similar to the existing data.

Research Progress on Mechanism of Active Components of Traditional Chinese Medicine in Therapy of Chronic Obstructive Pulmonary Disease： A Review / 中国实验方剂学杂志

Chronic obstructive pulmonary disease （COPD） is a common and frequently-occurring disease of the respiratory system， characterized by persistent respiratory symptoms and airflow restriction， which is prone to attack repeatedly and affect patients' quality of life seriously. At present， the combination of bronchodilators and inhaled corticosteroids is commonly used in clinic. Although these drugs can alleviate the symptoms of COPD patients， there are certain limitations of the difficulty in controlling the course of the disease effectively and reversing the decline of patients' lung function. Therefore， searching for safer and more effective therapeutic drugs has become a hot research topic nowadays. Traditional Chinese medicine （TCM） has remarkable curative effects and advantages in the prevention and therapy of COPD recently. Based on the increasing research and application of the active components of TCM in the therapy of COPD， studies on their pharmacodynamic mechanism are also more in depth. More and more studies have found that the active components of TCM can treat COPD patients effectively， and the mechanism involved mainly includes the anti-inflammatory， the antioxidant， and the inhibition of apoptosis. By searching and screening the domestic and foreign literatures on the treatment of COPD with the active components of TCM in recent years， the active components of TCM including flavonoids， terpenoids， phenols and saponins have been studied as the research objects， and their effects in improving the pulmonary function and oxidative stress， relieving inflammation and inhibiting apoptosis are expounded. Besides， the mechanism of action， signaling pathways and index molecules have been emphatically summarized， in order to provide the ideas for the clinical therapy and the basic research of COPD.

The mechanism, prediction, and prevention of saphenous vein grafts stenosis in early stage / 中华胸心血管外科杂志

Coronary artery bypass grafting is one of preferred therapy of coronary artery diseases, especially in severe coronary arteries stenosis. Grafts for CABG are optional, but the most used of graft is still saphenous vein, which has characteristics in convenience of harvesting, sufficient of length, and minimal affection of blood supply. Comparing with arterial grafts, pro-stenosis factors in saphenous vein graft are more like expressing. In early stage of stenosis of saphenous vein graft, intimal injury, acute thrombogenesis, and hyperplasia of venous smooth muscle cells, are risk factors which also influence long stage of stenosis. The article aimed to briefly illustrate mechanism, prediction, and prevention in early stage of SVG stenosis.

Surgical treatment and prognosis of myocardial infarction complicated with ventricular septal perforation / 中国胸心血管外科临床杂志

@#Objective    To investigate the surgical methods and efficacy of myocardial infarction combined with ventricular septal perforation. Methods    The clinical data of 60 patients with myocardial infarction combined with ventricular septal perforation admitted to the Department of Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, from 2009 to 2018 were retrospectively analyzed. There were 39 males and 21 females, aged 63.3±8.3 years. Results    Among the 60 patients, 43 (71.7%) patients were perforated in the apex, 11 (18.3%) in the posterior septum and 6 (10.0%) in the anterior septum. There were 24 (40.0%) patients of single coronary artery disease. Fourteen (23.3%) patients received intra-aortic balloon counterpulsation before surgery. The waiting time from ventricular septal perforation to surgery was 48.3 (3-217) d. All patients underwent ventricular septal perforation repair, among whom 53 (88.3%) patients received ventricular aneurysm closure or resection, and 49 (81.7%) patients received coronary artery bypass graft with an average of 2 distal anastomoses during the same period. Perioperative complications in the hospital included 8 (13.3%) deaths, 8 (13.3%) heart failure, 5 (8.3%) ventricular fibrillation, 3 (5.0%) pericardial tamponade, and 11 (18.3%) secondary thoracotomy and 11 (18.3%) residual shunt. Except for 8 patients who died in the hospital, the other 52 cured and discharged patients were followed up. The median follow-up time was 4.9 years. The 2-year and 5-year survival rate of the patients was 95.8%, and the 8-year survival rate was 89.0%. Major adverse cardiovascular events incidence was 19.2%, including 3 (5.8%) deaths, 5 (9.6%) heart failure, 2 (3.8%) myocardial infarction, and 4 (7.7%) cerebrovascular events. Conclusion    For patients with ventricular septal perforation after myocardial infarction, surgery is an effective treatment method. Although the perioperative mortality rate is high, satisfactory long-term results can be achieved by carefully choosing the operation timing and methods.

Molecular markers based upon whole chloroplast genomes and identifying alpine Gentiana waltonii and G. lhassica (Gentianaceae) / 药学学报

As two original plants of Tibetan herb Jieji, Gentiana waltonii Burk. and Gentiana lhassica Burk. belong to Section Cruciata of Gentiana, Gentianaceae. Here, we report on whole chloroplast genome sequences in the alpine species, respectively, and the features of plastomes were investigated. The plastome of G. waltonii is 148 705 bp long (148 652 bp in G. lhassica) and encodes 112 genes, including 78 protein-coding genes, 30 transfer RNA genes, and 4 ribosomal RNA genes. Two pseudogenes, namely ψrps16 and ψinfA, were found in plastomes. In addition, two novel loci were detected, and a species-specific polymerase chain reaction assay was developed for differentiating G. waltonii and G. lhassica from 10 alpine species in Section Cruciata. Gentiana. Our study provides basic data for identifying Tibetan herbs, alpine species conservation and molecular phylogenetic studies of Gentiana and Gentianaceae.

Clinical research progress and application of quantitative flow ratio / 中华胸心血管外科杂志

Accurate assessment of the degree of coronary artery stenosis is very important to guide the revascularization of patients with coronary heart disease. In recent years, functional assessment of the impact of coronary artery stenosis on the distal myocardium is changing the traditional concept of revascularization. The superiority of the fractional flow reserve(FFR) in guiding coronary interventional therapy has been widely verified in clinical practice. Due to its invasive operation, high cost, and high side effects of vasodilators during examinations, its application in my country is relatively limited. Quantitative flow ratio as a new, noninvasive, and rapid tool for assessing coronary stenosis, is being favored by researchers. This article reviews the clinical research progress of quantitative flow ratio and prospects its future clinical applications.

Long-term outcome comparison of ostial/shaft lesions in unprotected left main coronary artery treated by PCI or CABG / 中华心血管病杂志

Objective: To evaluate long-term clinical outcomes of consecutive patients treated with coronary artery bypass grafting (CABG) and percutaneous coronary intervention(PCI) with drug-eluting stents(DES) for ostial/shaft lesions in unprotected left main coronary artery(ULMCA). Method: A total of 259 patients with isolated ostial/midshaft lesions in unprotected left main coronary artery were enrolled consecutively who received DES implantation or underwent CABG between January 2003 and July 2009 in Beijing Anzhen Hospital. The endpoints of the study were death, repeat revascularization, myocardial infarction (MI) and stroke. Time to the primary endpoint was evaluated according to the Kaplan-Meier method, and the log-rank test was applied to compare the incidence of the endpoint. Adjusted risks for adverse outcomes were compared by multivariate Cox proportional hazard regression analyses. Results: A total of 259 patients were included, including 149 in PCI group and 110 in CABG group. And 193(74.5%) cases were males.The age was (61.4±9.8) years old. The median follow-up was 10.1 years (interquartile range 8.3 to 11.2 years) in the overall patients. There were no significant difference for the incidence of death [37.0% vs. 43.1% ，P=0.143] , MI [34.0% vs. 19.4% ，P=0.866], stroke [6.4% vs. 11.7% ， P=0.732], repeart revascularization [33.6% vs. 39.9% ，P=0.522] between PCI group and CABG group before multivariate adjusting，according to the incidence calculated with Kaplan-Meier. After adjusting covariates such as age, left ventricular ejection fraction（LVEF） and serum creatine with multivariate Cox hazard regression model, there was still no significant difference between the two groups. Conclusions: PCI with DES is as effective and safe as CABG in patients with left main ostium/shaft lesion during a median follow-up of 10.1 years.

Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families / 中国当代儿科杂志

This article reports the clinical and genetic features of two cases of cerebral creatine deficiency syndrome I (CCDSI) caused by SLC6A8 gene mutations. Both children were boys. Boy 1 (aged 2 years and 10 months) and Boy 2 (aged 8 years and 11 months) had the clinical manifestations of delayed mental and motor development, and convulsion. Their older brothers had the same symptoms. The mother of the boy 1 had mild intellectual disability. The genetic analysis showed two novel homozygous mutations, c.200G>A(p.Gly67Asp) and c.626_627delCT(p.Pro209Argfs*87), in the SLC6A8 gene on the X chromosome, both of which came from their mothers. These two novel mutations were rated as possible pathogenic mutations and were not reported in the literature before. This study expands the mutation spectrum of the SLC6A8 gene and has great significance in the diagnosis of boys with delayed development, and epilepsy.

Surgical efficacy of anterior or posterior ventricular septal rupture in patients with myocardial infarction / 中华胸心血管外科杂志

Objective:To explore the clinical characteristics and outcomes of patients with myocardial infarction(MI) accompanied by ventricular septal rupture(VSR) at anterior versus inferior septum.Methods:Sixty patients with MI and VSR who had been treated by surgery between January 2009 and December 2018 were selected for a retrospective study, and allocated into either anterior septal group(AS group, n=43) or inferior septal group(IS group, n=17) based on the VSR site. The primary outcomes included major adverse cardiovascular events(MACCEs), cardiac death, MI, heart failure(HF), stroke and revascularization, with a median follow-up of 4.94 years.Results:There were 8 cases died in the perioperation, including 6 patients in the AS group, 1 case for gastrointestinal bleeding after using the extracorporeal membrane lung, 2 cases for low cardiac output after the second thoracotomy exploration and 3 for postoperative pulmonary infection. While in the IS group 2 patients died, 1 for low cardiac output after the second thoracotomy exploration and 1 for postoperative heart failure. Compared with those in IS group, patients of AS group were more likely to be composed of male patients(44.2% vs 11.8%, P=0.019), with low left ventricular ejection fraction(0.47±0.09 vs 0.56±0.06, P=0.001), shorter interval from MI to operation[(52.9±35.3)days vs(79.6±65.1)days, P=0.045], shorter CPB time[(137.9±48.6)min vs(169.9±42.3)min, P=0.024], shorter cross-clamp time[(82.4±32.1)min vs(107.0±30.4)min, P=0.011], and lower postoperative LVEDD[(49.1±5.7)mm vs.(52.9±4.8)mm, P=0.029]. There was no difference in perioperative complications between the two groups(including in hospital death, HF, ventricular fibrillation, pericardial tamponade and secondary thoracotomy). Additionally, long-term follow-up showes that there was also no difference in MACCEs, death, MI, HF, stroke and revascularization between the two groups( P>0.05). Conclusion:The perioperative risk and outcomes of surgery for MI patients with AS or IS are similar.

Assess grafts status in symptomatic patients with prior coronary artery bypass graft / 中华胸心血管外科杂志

Objective:To assess the clinical characteristics and grafts status by coronary angiography(CAG) in symptomatic patients with prior coronary artery bypass graft(CABG).Methods:A retrospective descriptive study of symptomatic patients with prior CABG who underwent CAG was performed, 1 136 patients were included and analyzed. The mean age was(62.5±8.7) years, 76.4% were male. There was a high prevalence of risk factors like hypertension(75.0%), dyslipidemia(48.2%), diabetes(46.1%) and smoking history(62.8%).Results:The mean duration after CABG was (4.65±3.39) years. 94.5% of patients had chest pain. 12.9% of patients had all diseased grafts and 28.7% had all patent grafts. The proportion of diseased SVG was higher than that of diseased arterial grafts. The proportion of diseased grafts anastomosed to RCA territory was higher than that of grafts anastomosed to LCX territory or LAD territory. 52.5% of patients received percutaneous coronary intervention(PCI) revascularization, and 88.3% of PCI was performed in native vessels.Conclusion:The most common symptom recurring to patients with prior CABG was chest pain. Graft status in symptomatic patients with prior CABG was worse than we expected. Patients received repeated revascularization mostly by PCI and PCI was mainly performed in native vessels.