Objective:Evaluate the safety of the bioresorbable scaffold (BRS) series implanted.Methods:This is a cohort study, which included 377 patients with acute coronary syndrome (ACS) who underwent elective percutaneous coronary intervention (PCI) with Neovas-BRS implantation from July 2019 to April 2022 at the Northern Command General Hospital. The patients were divided into the series BRS group ( n=63) and single BRS group ( n=314). We compared PCI related data between two groups, as well as all-cause death, cardiac death, non-fatal myocardial infarction, target vessel revascularization, stroke, and bleeding of type 2 to 5 defined by the Bleeding Academic Research Consortium of America (BARC) during follow-up. We also compared the major adverse cardiovascular and cerebrovascular events (MACCE), which includes all-cause death, non-fatal myocardial infarction, target vessel revascularization and stroke, as well as the net adverse clinical events (NACE), which includes MACCE and bleeding of BARC type 2 to 5. Procedural immediate success was defined as a residual stenosis of<20% with successful stent implantation and post-PCI target vessel flow grade up to TIMI 3. The images of 11 patients in the series BRS group who underwent optical coherence tomography (OCT) were analyzed. Results:A total of 377 patients were finally enrolled, aged (52.5±10.7) years, including 80.4% (303/377) males . The immediate success rate of PCI was 100% in both groups. The number of ≥50% stenotic lesions, number of target vessels, SYNTAX score, number of post-application expansion balloons, number of guidewires, total stent length, contrast volume and operation time were higher in the series BRS group than in the single BRS group (all P<0.05). There was no significant difference in the proportion of intravascular ultrasound and OCT application between the two groups. One patient in the single BRS group had an ischemic stroke during postoperative hospitalization, but there were no death, non-fatal myocardial infarction, target vessel revascularization, or BARC 2 to 5 bleeding events occurred during hospitalization in both groups. Follow up time was 352.0 (193.0, 421.0) days. There was no statistically significant difference between the two groups in the incidence of all-cause death (0 vs. 0.6% (2/314), P=1.000), cardiogenic death (0 vs. 0.3% (1/314), P=1.000), nonfatal myocardial infarction (0 vs. 1.0% (3/314), P=1.000), target lesion revascularization (3.2% (2/63) vs. 1.6% (5/314), P=0.736), BARC type 2 to 5 bleeding (3.2% (2/63) vs. 5.7% (18/314), P=0.604), MACCE (3.2% (2/63) vs. 2.9% (9/314), P=0.894), and NACE (6.3% (4/63) vs. 8.6% (27/314), P=0.553) during the follow-up period. OCT results of the 11 (17.5%) patients in the series BRS group indicated that 3 patients (27.3%) achieved non-overlapping connection, and the immediate stent expansion rate was (95.47±0.04) %. In 8 patients with BRS overlapping connections, immediate stent expansion rate was (90.32±0.44) %. Conclusion:In patients with low to intermediate-risk ACS, serial implantation of RBS in long coronary lesions is safe and feasible, and achieves the similar short-term outcomes as single BRS implantation.

Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder characterized by deficits in social interactions and repetitive behaviors. Although hundreds of ASD risk genes, implicated in synaptic formation and transcriptional regulation, have been identified through human genetic studies, the East Asian ASD cohorts are still under-represented in genome-wide genetic studies. Here, we applied whole-exome sequencing to 369 ASD trios including probands and unaffected parents of Chinese origin. Using a joint-calling analytical pipeline based on GATK toolkits, we identified numerous de novo mutations including 55 high-impact variants and 165 moderate-impact variants, as well as de novo copy number variations containing known ASD-related genes. Importantly, combined with single-cell sequencing data from the developing human brain, we found that the expression of genes with de novo mutations was specifically enriched in the pre-, post-central gyrus (PRC, PC) and banks of the superior temporal (BST) regions in the human brain. By further analyzing the brain imaging data with ASD and healthy controls, we found that the gray volume of the right BST in ASD patients was significantly decreased compared to healthy controls, suggesting the potential structural deficits associated with ASD. Finally, we found a decrease in the seed-based functional connectivity between BST/PC/PRC and sensory areas, the insula, as well as the frontal lobes in ASD patients. This work indicated that combinatorial analysis with genome-wide screening, single-cell sequencing, and brain imaging data reveal the brain regions contributing to the etiology of ASD.
Humans ; Autism Spectrum Disorder/metabolism* ; Autistic Disorder ; Exome Sequencing ; DNA Copy Number Variations ; East Asian People ; Brain/metabolism* ; Mutation/genetics* ; Genetic Predisposition to Disease/genetics*

Objective:To investigate the risk factors of acute Stanford type B aortic dissection (TBAD) complicated with pleural effusion (PE) and the short-term and long-term outcomes of thoracic endovascular aortic repair (TEVAR).Methods:A case-control study. The clinical and imaging data of 1 083 patients with acute TBAD admitted to the General Hospital of Northern Theater Command from April 2002 to December 2020 were retrospectively analyzed, including 211 cases with pleural effusion and 872 cases without pleural effusion. The baseline analysis of the two groups of patients was performed. The risk factors associated with pleural effusion were analyzed by binary logistic regression, and the results were expressed as odds ratio ( OR) and 95% confidence interval ( CI). According to the quantity of pleural effusion, they were simultaneously divided into small pleural effusion group and medium large pleural effusion group, to compare the short-term and long-term effects of TEVAR patients with different amounts of pleural effusion. Results:The incidence of pericardial effusion (17.5% vs. 3.8%, P<0.001), anemia (21.3% vs. 12.5%, P=0.001), aortic spiral tear (49.8% vs. 37.8%, P=0.002), dissection tear over diaphragm (57.8% vs. 48.1%, P=0.011), serum creatinine [85 (69, 111) vs. 81 (67, 100) μmol/L, P=0.011] and white blood cell levels[(11.3±4.2)×10 9/L vs. (10.3±4.2)×10 9/L, P=0.002] in acute TBAD pleural effusion group were significantly higher than those in non-pleural effusion group, and the hemoglobin level was significantly lower than that in non-pleural effusion group [(128±20) vs. (133±17) g/L, P<0.05]. Logistic stepwise regression analysis showed that pericardial effusion ( OR=5.038,95% CI 2.962-8.568, P<0.001), anemia ( OR=2.047,95% CI 1.361-3.079, P=0.001), spiral tear ( OR=1.551,95% CI 1.030-2.336 , P=0.002) and elevated white blood cell ( OR=1.059,95% CI 1.011-1.102, P=0.005) were independent risk factors for TBAD complicated with pleural effusion. The incidences of all-cause death (4/19 vs. 1.5% vs. 0.9%, P<0.001), aortogenic death (4/19 vs. 0.7% vs. 0.7%, P<0.001) and aortic related adverse events (4/19 vs. 1.5% vs. 1.1%, P<0.001) in patients with large pleural effusion during TEVAR operation were significantly higher than those in patients with small pleural effusion and those without pleural effusion, and the differences were statistically significant. At 1 month follow-up after TEVAR, the incidence of all-cause death (4/16 vs. 3.3% vs. 1.6%, P<0.001), aortogenic death (4/16 vs. 0.8% vs.0.7%, P<0.001), aorta related adverse events (4/16 vs. 4.1% vs. 4.7%, P=0.013) and overall clinical adverse events (4/16 vs.9.8% vs. 6.7%, P=0.014) in the medium and large thoracic group were significantly higher than those in the small pleural effusion group and no pleural effusion group, and the differences were statistically significant. At 1 year follow-up after TEVAR, the incidence of all-cause death (4/15 vs. 4.9% vs. 3.9%, P=0.004), aortogenic death (4/15 vs.2.5% vs. 2.1%, P<0.001), aorta related adverse events (5/15 vs. 11.5% vs. 9.4%, P=0.012) and overall clinical adverse events (5/15 vs. 18.9% vs. 13.1%, P=0.029) in the medium and large thoracic group were significantly higher than those in the small pleural effusion group and no pleural effusion group, and the differences were statistically significant. Conclusions:Single center data showed that pericardial effusion, anemia, spiral tear and elevated white blood cell were independent risk factors for acute TBAD complicated with pleural effusion; the early (1 month) and long-term (1 year) rates of all-cause death, aortic mortality, aortic adverse events and overall clinical adverse events were significantly higher in TBAD patients with moderate pleural effusion after TEVAR, and moderate and large pleural effusion was an independent risk factor for near and long-term aortic related adverse events after TEVAR surgery.

Genetic composition plays critical roles in the pathogenesis of autism spectrum disorder (ASD). Especially, inherited and de novo intronic variants are often seen in patients with ASD. However, the biological significance of intronic variants is difficult to address. Here, among a Chinese ASD cohort, we identified a recurrent inherited intronic variant in the CHD7 gene, which is specifically enriched in East Asian populations. CHD7 has been implicated in numerous developmental disorders including CHARGE syndrome and ASD. To investigate whether the ASD-associated CHD7 intronic variant affects neural development, we established human embryonic stem cells carrying this variant using CRISPR/Cas9 methods and found that the level of CHD7 mRNA significantly decreased compared to control. Upon differentiation towards the forebrain neuronal lineage, we found that neural cells carrying the CHD7 intronic variant exhibited developmental delay and maturity defects. Importantly, we found that TBR1, a gene also implicated in ASD, was significantly increased in neurons carrying the CHD7 intronic variant, suggesting the intrinsic relevance among ASD genes. Furthermore, the morphological defects found in neurons carrying CHD7 intronic mutations were rescued by knocking down TBR1, indicating that TBR1 may be responsible for the defects in CHD7-related disorders. Finally, the CHD7 intronic variant generated three abnormal forms of transcripts through alternative splicing, which all exhibited loss-of-function in functional assays. Our study provides crucial evidence supporting the notion that the intronic variant of CHD7 is potentially an autism susceptibility site, shedding new light on identifying the functions of intronic variants in genetic studies of autism.

Objective: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus. Methods: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters. Results: The fetus was found to harbor a c. 1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida. Conclusion Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.

OBJECTIVE: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus. METHODS: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters. RESULTS: The fetus was found to harbor a c.1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida. CONCLUSION Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.
DNA Mutational Analysis ; Female ; Fetus ; Genetic Diseases, X-Linked ; diagnosis ; genetics ; Humans ; Hydrocephalus ; diagnosis ; genetics ; Male ; Mutation ; Neural Cell Adhesion Molecule L1 ; genetics ; Pedigree ; Pregnancy

Objective To investigate the changes in serum procalcitonin (PCT) in patients with severe pneumonia, and to analyze its value on evaluating the clinical outcome of patients with severe pneumonia. Methods A total of 58 patients with severe pneumonia aged over 18 years, and admitted to intensive care unit (ICU) of Zhuozhou City Hospital of Hebei Province from January 2017 to July 2018 were enrolled. The patients were divided into recovery group (the symptoms and signs of pneumonia disappeared or improved, and the X-ray chest films improved or did not make significant progress) and deterioration group (the symptoms and signs of pneumonia persisted or progressed, while X-ray chest radiography progressed, as well as serious complications such as involvement of other organ functions due to deterioration of pulmonary infection or septic shock) according to the therapeutic outcome. The serum PCT levels at 1, 3, 5, 7, 9 days after severe pneumonia diagnosed were recorded, and procalcitonin clearance rate (PCTc) was calculated. The acute physiology and chronic health evaluation Ⅱ (APACHEⅡ) score was estimated within 24 hours when severe pneumonia was diagnosed. Receiver operating characteristic (ROC) curve was drawn, and the area under ROC curve (AUC) was calculated to analyze the value of PCTc on evaluating the clinical outcome of patients with severe pneumonia. Results Among 58 patients, 33 (56.9%) had better outcome after active treatment (recovery group), and 25 (44.1%) had worse condition (deterioration group). There was no significant difference in PCT level at 1 day or 3 days between the recovery group and the deterioration group [μg/L: 5.05 (3.89, 7.61) vs. 5.29 (4.15, 7.46) at 1 day, 4.59 (4.02, 6.90) vs. 5.70 (4.59, 7.28) at 3 days, both P > 0.05]. With the prolongation of treatment time, serum PCT level was gradually decreased in the recovery group, while remained at higher level in the deterioration group, which was significantly lowered at 5, 7, 9 days in the recovery group as compared with that in the deterioration group [μg/L:2.92 (2.09, 3.42) vs. 6.09 (3.24, 7.96) at 5 days, 1.94 (1.50, 2.07) vs. 7.65 (5.60, 10.52) at 7 days, 1.37 (0.91, 1.74) vs. 8.96 (6.09, 10.87) at 9 days, all P < 0.01]. PCTc at 3, 5, 7, 9 days in the recovery group were significantly higher than those in the deterioration group [15.10 (-17.80, 32.10)% vs. -1.53 (-20.80, 11.48)% at 3 days, 47.50 (30.25, 60.34)% vs. 6.25 (-14.58, 29.05)% at 5 days, 76.44 (53.18, 77.92)% vs. -11.20 (-66.75, -1.38)% at 7 days, 80.01 (59.86, 88.27)% vs. -38.15 (-99.38, -2.81)% at 9 days, all P < 0.05]. ROC curve analysis showed that PCTc at 3, 5, 7 and 9 days were valuable for evaluating the clinical outcome of patients with severe pneumonia, and 9-day PCTc had the greatest value, the AUC was 0.978 [95% confidence interval (95%CI) = 0.945-1.000, P = 0.000], which was higher than APACHEⅡ(AUC = 0.442, 95%CI = 0.280-0.610, P = 0.392); when the best cut-off value of 9-day PCTc was 93.00%, its sensitivity was 99.0%, and specificity was 87.3%. Conclusions The PCT level of patients with severe pneumonia remained at a high level, which was related with the deterioration of the disease. PCTc, as an index to evaluate the clinical outcome of patients with severe pneumonia, has good application value.

Objective To investigate the effects of enteral nutrition added with glutamine on the incidences of gastrointestinal complications,intestinal mucosal barrier function and inflammatory responses in patients with acute severe traumatic brain injury (sTBI).Methods A prospective case control study was made on 107 patients with sTBI hospitalized from January 2016 to June 2017.The patients were divided into experimental group added with glutamine (n =54) and control group without glutamine (n =53) according to the random number table.The general data of the patients were recorded.After treatment,the incidences of gastrointestinal complications in both groups were compared.The serum levels of intestinal mucosal barrier function indices,namely,diamine oxidase (DAO),Dlactate acid,and intestinal fat acid binding protein (I-FABP) were evaluated by enzymology spectrophotometer method.Meanwhile,the serum levels of C-reactive protein (CRP),tumor necrosis factor-α (TNF-α),and interleukin-6 (IL-6) were also tested with enzyme-linked immunosorbent assay (ELISA).Glasgow coma scale (GCS),acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ),and hospital stay in both groups were compared.Results The two group were comparable with respect to gender,age,injury reasons,body mass index,preoperative GCS,preoperative APACHE Ⅱ,injury type and injury time (P ＞ 0.05).The experimental group had lower incidences of stress ulcer,gastric retention and diarrhea compared with the control group 14 days after treatment (P ＜ 0.05).Within 14 days after treatment,the serum levels of DAO,D-lactate acid and I-FABP were significantly decreased in the experimental group at days 7 and 14 after treatment (P ＜ 0.05).The serum levels of CRP,TNF-α and IL-6 in the experimental group were significantly decreased after treatment (P ＜ 0.05).The experimental group had better prognosis compared with the control group (P ＜ 0.05),with higher GCS scores [(9.3 ± 0.7) points vs.(8.2 ± 0.7) points],lower APACHE Ⅱ scores [(15.3 ± 1.1) points vs.(17.7 ± 1.2) points] at day 14,and shorter hospital stay [(19.1 ± 2.2) days vs.(25.3 ± 2.4) days] (P ＜ 0.01).Conclusions Enteral nutrition added with glutamine can effectively reduce the incidence of gastrointestinal complications,as well as alleviate the intestinal mucosal barrier function damage and the inflammatory responses at early stage after sTBI,which possibly improves prognosis.

Objective To investigate adherence and the influence factors among patients who are on antiretrovirus therapy (ART) of 3 provinces in China. Methods This study selected 18?year?old and older AIDS patients as the survey objects who initiated anti?retrovirus therapy between April and September of 2014 and kept on the treatment for one year in Yunnan,Sichuan,and Hu'nan province. Information of demography, treatment and social support was collected by questionnaires. Adopt SSRS questionnaire to calculate the information of objective support, subjective support and utilization of social support.χ2 test and logistic regression were performed to examine relationships between factors and adherence. Results A total of 386 patients with medication were investigated. Among them, there were 365 (94.6%) cases who were compliant to the ART, and 357 (92.5%) cases can take their pills on time, and 29 (7.5%) cases take their medication in excess of the prescribed time more than two hours. Social support score was 27.2 ± 7.3, including objective support score (5.6 ± 2.7), subjective support score (16.1 ± 4.8), and utilization of social support (5.5 ± 1.9). Multivariate logistic regression analysis revealed that adherence was significantly associated with the correct cognition of medication (OR (95%CI):3.24 (1.17-9.00)), the self?awareness of the drug regimen was not complexity (OR (95%CI): 9.34 (3.27-26.68)), taking medication 1 time a day (OR (95%CI): 4.00 (1.35-11.84)), and the batter utilization of social support (OR (95%CI): 1.49 (1.06-2.01)). Married/cohabiting or farmers tend to be nonadherenced, while the OR (95%CI) was 0.24 (0.08-0.67) and 0.23 (0.08-0.69), respectively. Conclusion The patients among these provinces were compliant to the ART, and most of them can take their pills on time. The social support score of these patients was lower than normal person. Participants who have correct cognition of medication, thinking their drug regimen was not complexity; Taking medication 1 time a day or have high level of utilization of social support showed a significantly higher level of self?reported adherence.

Objective To investigate adherence and the influence factors among patients who are on antiretrovirus therapy (ART) of 3 provinces in China. Methods This study selected 18?year?old and older AIDS patients as the survey objects who initiated anti?retrovirus therapy between April and September of 2014 and kept on the treatment for one year in Yunnan,Sichuan,and Hu'nan province. Information of demography, treatment and social support was collected by questionnaires. Adopt SSRS questionnaire to calculate the information of objective support, subjective support and utilization of social support.χ2 test and logistic regression were performed to examine relationships between factors and adherence. Results A total of 386 patients with medication were investigated. Among them, there were 365 (94.6%) cases who were compliant to the ART, and 357 (92.5%) cases can take their pills on time, and 29 (7.5%) cases take their medication in excess of the prescribed time more than two hours. Social support score was 27.2 ± 7.3, including objective support score (5.6 ± 2.7), subjective support score (16.1 ± 4.8), and utilization of social support (5.5 ± 1.9). Multivariate logistic regression analysis revealed that adherence was significantly associated with the correct cognition of medication (OR (95%CI):3.24 (1.17-9.00)), the self?awareness of the drug regimen was not complexity (OR (95%CI): 9.34 (3.27-26.68)), taking medication 1 time a day (OR (95%CI): 4.00 (1.35-11.84)), and the batter utilization of social support (OR (95%CI): 1.49 (1.06-2.01)). Married/cohabiting or farmers tend to be nonadherenced, while the OR (95%CI) was 0.24 (0.08-0.67) and 0.23 (0.08-0.69), respectively. Conclusion The patients among these provinces were compliant to the ART, and most of them can take their pills on time. The social support score of these patients was lower than normal person. Participants who have correct cognition of medication, thinking their drug regimen was not complexity; Taking medication 1 time a day or have high level of utilization of social support showed a significantly higher level of self?reported adherence.