1.Relationship between carotid artery risk assessment and postoperative cognitive dysfunction with off-pump coronary artery bypass grafting
Zhenhua WU ; Zhigang GUO ; Yunjia LIN ; Peijun LI
Tianjin Medical Journal 2015;(6):631-634,635
Objective To analyze the correlation of carotid artery stenosis(CAS)with postoperative cognitive dysfunc?tion(POCD)in patients who underwent off-pump coronary artery bypass grafting(OPCABG). Methods Between March 2014 and October 2014, a total of 157 patients who underwent OPCABG in our hospital were enrolled and divided into POCD group and non-POCD group according to their performance respondent to MMSE questionnaire survey conducted 5 days before operation. LOTCA questionnaire survey was conducted at the first day and 7th days pre-and post-operation re?spectively in order to investigate the influence of CAS on POCD in patients. Results The incidence of POCD was 30.6%(48 out of 157). Advanced age, diabetes,cultural level,carotid artery stenosis, Hb level after operation, score of LOTCA question?naire survey conducted before surgery,time of respirator and the time spend in ICU were significant predictive factors for POCD. However, multivariate logistic regression analysis showed that age, CAS and the time spend in ICU were independent risk factors for POCD, especially CAS(OR=5.078,95%CI:2.211-11.662, P<0.001). Patients with severe CAS suffer from a significant decline in cognitive function on space, time, action and ideation. Conclusion CAS is a predominant risk factor for POCD in patients undergoing OPCABG.
2.Genetic analysis of a child with Malan syndrome
Baosong WANG ; Xuexi ZHANG ; Yunjia LI ; Tao LIU ; Lin LI ; Qin MENG
Chinese Journal of Medical Genetics 2024;41(11):1330-1334
Objective:To explore the genetic basis of a child with mental retardation and developmental delay.Methods:A child who had attended the genetic clinic of Linyi People′s Hospital from October 2023 to April 2024 was selected as the study subject. Intelligence and development were assessed with simplified Peabody scale. Electroencephalogram and imaging data were collected. Peripheral blood samples of the child and her parents were collected for the screening of genetic metabolic diseases, chromosomal karyotyping, and trio-whole genome sequencing (trio-WGS) analysis. Candidate variant was verified by Sanger sequencing, and RNAseq was carried out to verify the alternative splicing due to the candidate variant. This study has been approved by the Medical Ethics Committee of Linyi People′s Hospital (No. YX200083).Results:The patient was an 8-year-and-11-month-old girl. Both of her parents had normal phenotypes. The child was assessed by the simplified Peabody scale as having intellectual disability and developmental delay. MRI showed no definite abnormal signals within the brain parenchyma, and electroencephalogram was normal. Screening of genetic metabolic diseases showed no obvious abnormality. Chromosomal karyotype was normal. Trio-WGS has detected a c. 697+ 1G>A variant in the intron 4 of the NFIX gene, along with 9 other variants within eight genes. The c. 697+ 1G>A variant may cause abnormal splicing of the NFIX gene transcript. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 697+ 1G>A variant was predicted to be pathogenic (PVS1+ PS2+ PM2_Supporting), while the evidence for pathogenicity of the other 9 variants was insufficient. Conclusion:The novel de novo c. 697+ 1G>A variant of the NFIX gene probably underlay the pathogenesis of the child, which may have caused the disease by leading to abnormal splicing.
3.The mediating effect of self-consciousness between peer relationship and social anxiety in HIV-infec-ted children
Ruopeng WANG ; Xiuxian YANG ; Xiaohui QIU ; Zhengxue QIAO ; Lin WANG ; Erying ZHAO ; Wenbo WANG ; Jiawei ZHOU ; Enpeng ZHOU ; Yunjia XIE ; Yuewu CHENG ; Yanjie YANG
Chinese Journal of Behavioral Medicine and Brain Science 2019;28(3):266-269
Objective To explore the relationship among peer relationship,self-consciousness and social anxiety in HIV-infected children. Methods Peer Relationship Scale,Piers-Harris Children's Self-con-cept Scale and Social Anxiety Scale for Children were applied to 126 HIV-infected children. Results The score of peer relationship was 53. 0(45. 0,62. 0),the score of self-concept was 52. 0(42. 0,60. 0),and the score of social anxiety was 6. 0(2. 0,9. 0). Peer relationship was positively correlated with social anxiety( r=0. 196,P=0. 029) and negatively correlated with self-consciousness(r=-0. 628,P<0. 01). Self-conscious-ness was negatively correlated with social anxiety(r=-0. 504,P<0. 01). Bootstrap analysis showed that self-consciousness played a complete mediating role between peer relationship and social anxiety,and the media-ting effect value was 0. 377. Conclusion Peer relationship,self-consciousness and social anxiety are closely related. Furthermore,self-consciousness plays a complete mediating role between peer relationship and social anxiety in HIV-infected children.