Objective To analyze the influencing factors for poor prognosis in elderly patients with CHD and left ventricular dysfunction(LVD)treated by CABG,and to construct a logistic predic-tion model.Methods A total of 199 elderly CHD patients with LVD undergoing CABG in Zhu-jiang Hospital from April 2020 to April 2023 were retrospectively enrolled.After 1 year of follow-up,according to whether MACCE occurred after surgery,they were divided into MACCE group(24 cases)and non-MACCE group(175 cases).The clinical data were compared between the two groups.Multivariate logistic regression analysis was used to analyze the influencing factors for poor prognosis,and a logistic prediction model was constructed.Results The MACCE group had significantly larger proportions of hypertension,diabetes,chronic kidney disease,NYHA gradeⅢand multi-vessel disease,and smaller proportion of non-cardiopulmonary bypass than the non-MACCE group(P＜0.05,P＜0.01).Multivariate logistic regression analysis showed that diabetes(OR=2.328,95％CI:1.469-3.690,P=0.000),NYH A grade(OR=2.181,95％CI:1.184-4.021,P=0.013),multi-vessel disease(OR=1.996,95％CI:1.187-3.355,P=0.009),and non-cardiopulmonary bypass(OR=0.660,95％CI:0.541-0.806,P=0.000)were independent influen-cing factors for poor prognosis in the patients after CABG.The AUC value of the constructed pre-diction model in predicting poor prognosis was 0.822(95％CI:0.721-0.923),with a sensitivity of 66.70％and a specificity of 80.60％.Conclusion Diabetes,NYHA grade,multi-vessel disease and non-cardiopulmonary bypass are independent influencing factors for poor prognosis in elderly CHD patients complicated with LVD after CABG.The constructed logistic prediction model has certain predictive value for poor prognosis in these elderly patients.

Objective:To validate the usefulness of copy number variation sequencing (CNV-seq) in detecting the deletion/duplication of the DMD gene in Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) patients. Methods:One hundred and seventy-seven cases who visited the Department of Medical Genetics, Affiliated Hospital of Kunming University of Science and Technology/the First People′s Hospital of Yunnan Province from April 2018 to November 2023 were collected. All patients had previously accepted multiplex ligation-dependent probe amplification (MLPA) to detect the deletion/duplication of the DMD gene, including 90 cases of normal control with a negative result of MLPA and 87 cases with the deletion or duplication of the DMD gene (61 cases of DMD and 26 cases of BMD). CNV-seq was performed in a single-blind manner to detect DMD gene deletion or duplication for all of 177 cases to obtain the detection efficiency of CNV-seq in comparison with MLPA. Results:Comparing to MLPA, CNV-seq had a coincidence rate of 88.7% (157/177) for detecting DMD gene deletion/duplication, with a sensitivity of 77.0% (67/87), a specificity and a positive predictive value of both 100.0% (90/90 and 67/67, respectively), a negative predictive value of 81.8% (90/110), and a Kappa value of 0.773. Of the 87 patients with the deletion or duplication of the DMD gene, CNV-seq detected 67 cases with DMD gene deletion/duplication, including 62 cases with deletion and 5 cases with duplication, with fragment ranging from 150 to 750 kb. While CNV-seq missed 23.0% (20/87) of positive cases, mainly due to the involved fragments spanning only 1 to 4 exons, and with a variation size less than 50 kb, below the resolution (100 kb) of CNV-seq. The detection rate of CNV-seq in BMD cases (84.6%, 22/26) was a little higher than that in DMD cases (73.8%, 45/61), but there was no significant difference between 2 subgroups ( χ2=1.211, P=0.271). The results of CNV-seq in normal controls were all negative, and consistent with the results of MLPA. Conclusion:CNV-seq can detect 77.0% (67/87) of deletion/duplication of the DMD gene in patients with DMD/BMD, while the deletion/duplication less than 100 kb may be inevitably unidentified, therefore it is recommended as an assistant screening technique in prenatal diagnosis for DMD gene deletion or duplication.

Purpose To explore the clinical value of screening for partial agenesis of the corpus callosum(PACC)via measuring the distance from the end of the fetal corpus callosum to the occipital bone.Materials and Methods A Prospective study were performed from October 2017 to April 2023 in Ji’an Maternal and Child Health Care Hospital and Jiangxi Maternal and Child Health Hospital.A total of 33 PACC fetuses(abnormal group)and 396 normal fetuses(normal group)were selected as the research subjects.The distance(Z value)from the terminal posterior edge of the corpus callosum to the occipital bone was measured,Z value was calculated and compared between groups.The truncation value and related diagnostic efficiency indexes were calculated by receiver operator characteristic curve analysis,and the positive rate of Z value of abnormal group was compared with that of indirect signs.Results The distance from the terminal posterior edge of the corpus callosum to the occipital bone was positively correlated with the gestational age(r=0.913,P<0.001).The best regression equation was that the distance from the terminal posterior edge of the corpus callosum to the occipital bone was 3.879+1.115×gestational age,and the standard deviation was 1.670.The results of mean comparison showed that the Z value of the abnormal group was significantly higher than that of the normal group(t=11.223 9,P<0.001).When Z value 2.199 7 was used as the cut-off value for the diagnosis of PACC,the area under the curve was 0.9981,the Yoden index was 0.959 6,and the sensitivity,specificity,positive and negative predictive values were 96.97%,98.99%,88.89%and 99.75%,respectively.The positive rate of Z value in abnormal group was significantly higher than that of indirect signs(96.97%vs.63.64%,χ2=7.692 3,P<0.01).Conclusion The distance from the terminal posterior edge of corpus callosum to the occipital bone of PACC fetus is larger than that of normal fetus.The increase of Z value indicates that the end of corpus callosum moves forward,which can be used as one of the basis for screening PACC,and it has high clinical value when Z value 2.199 7 is used as the cut-off value for PACC screening.

Objective To analyze the influencing factors for poor prognosis in elderly patients with CHD and left ventricular dysfunction(LVD)treated by CABG,and to construct a logistic predic-tion model.Methods A total of 199 elderly CHD patients with LVD undergoing CABG in Zhu-jiang Hospital from April 2020 to April 2023 were retrospectively enrolled.After 1 year of follow-up,according to whether MACCE occurred after surgery,they were divided into MACCE group(24 cases)and non-MACCE group(175 cases).The clinical data were compared between the two groups.Multivariate logistic regression analysis was used to analyze the influencing factors for poor prognosis,and a logistic prediction model was constructed.Results The MACCE group had significantly larger proportions of hypertension,diabetes,chronic kidney disease,NYHA gradeⅢand multi-vessel disease,and smaller proportion of non-cardiopulmonary bypass than the non-MACCE group(P＜0.05,P＜0.01).Multivariate logistic regression analysis showed that diabetes(OR=2.328,95％CI:1.469-3.690,P=0.000),NYH A grade(OR=2.181,95％CI:1.184-4.021,P=0.013),multi-vessel disease(OR=1.996,95％CI:1.187-3.355,P=0.009),and non-cardiopulmonary bypass(OR=0.660,95％CI:0.541-0.806,P=0.000)were independent influen-cing factors for poor prognosis in the patients after CABG.The AUC value of the constructed pre-diction model in predicting poor prognosis was 0.822(95％CI:0.721-0.923),with a sensitivity of 66.70％and a specificity of 80.60％.Conclusion Diabetes,NYHA grade,multi-vessel disease and non-cardiopulmonary bypass are independent influencing factors for poor prognosis in elderly CHD patients complicated with LVD after CABG.The constructed logistic prediction model has certain predictive value for poor prognosis in these elderly patients.

Purpose To explore the clinical value of screening for partial agenesis of the corpus callosum(PACC)via measuring the distance from the end of the fetal corpus callosum to the occipital bone.Materials and Methods A Prospective study were performed from October 2017 to April 2023 in Ji’an Maternal and Child Health Care Hospital and Jiangxi Maternal and Child Health Hospital.A total of 33 PACC fetuses(abnormal group)and 396 normal fetuses(normal group)were selected as the research subjects.The distance(Z value)from the terminal posterior edge of the corpus callosum to the occipital bone was measured,Z value was calculated and compared between groups.The truncation value and related diagnostic efficiency indexes were calculated by receiver operator characteristic curve analysis,and the positive rate of Z value of abnormal group was compared with that of indirect signs.Results The distance from the terminal posterior edge of the corpus callosum to the occipital bone was positively correlated with the gestational age(r=0.913,P<0.001).The best regression equation was that the distance from the terminal posterior edge of the corpus callosum to the occipital bone was 3.879+1.115×gestational age,and the standard deviation was 1.670.The results of mean comparison showed that the Z value of the abnormal group was significantly higher than that of the normal group(t=11.223 9,P<0.001).When Z value 2.199 7 was used as the cut-off value for the diagnosis of PACC,the area under the curve was 0.9981,the Yoden index was 0.959 6,and the sensitivity,specificity,positive and negative predictive values were 96.97%,98.99%,88.89%and 99.75%,respectively.The positive rate of Z value in abnormal group was significantly higher than that of indirect signs(96.97%vs.63.64%,χ2=7.692 3,P<0.01).Conclusion The distance from the terminal posterior edge of corpus callosum to the occipital bone of PACC fetus is larger than that of normal fetus.The increase of Z value indicates that the end of corpus callosum moves forward,which can be used as one of the basis for screening PACC,and it has high clinical value when Z value 2.199 7 is used as the cut-off value for PACC screening.

Objective:To validate the usefulness of copy number variation sequencing (CNV-seq) in detecting the deletion/duplication of the DMD gene in Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) patients. Methods:One hundred and seventy-seven cases who visited the Department of Medical Genetics, Affiliated Hospital of Kunming University of Science and Technology/the First People′s Hospital of Yunnan Province from April 2018 to November 2023 were collected. All patients had previously accepted multiplex ligation-dependent probe amplification (MLPA) to detect the deletion/duplication of the DMD gene, including 90 cases of normal control with a negative result of MLPA and 87 cases with the deletion or duplication of the DMD gene (61 cases of DMD and 26 cases of BMD). CNV-seq was performed in a single-blind manner to detect DMD gene deletion or duplication for all of 177 cases to obtain the detection efficiency of CNV-seq in comparison with MLPA. Results:Comparing to MLPA, CNV-seq had a coincidence rate of 88.7% (157/177) for detecting DMD gene deletion/duplication, with a sensitivity of 77.0% (67/87), a specificity and a positive predictive value of both 100.0% (90/90 and 67/67, respectively), a negative predictive value of 81.8% (90/110), and a Kappa value of 0.773. Of the 87 patients with the deletion or duplication of the DMD gene, CNV-seq detected 67 cases with DMD gene deletion/duplication, including 62 cases with deletion and 5 cases with duplication, with fragment ranging from 150 to 750 kb. While CNV-seq missed 23.0% (20/87) of positive cases, mainly due to the involved fragments spanning only 1 to 4 exons, and with a variation size less than 50 kb, below the resolution (100 kb) of CNV-seq. The detection rate of CNV-seq in BMD cases (84.6%, 22/26) was a little higher than that in DMD cases (73.8%, 45/61), but there was no significant difference between 2 subgroups ( χ2=1.211, P=0.271). The results of CNV-seq in normal controls were all negative, and consistent with the results of MLPA. Conclusion:CNV-seq can detect 77.0% (67/87) of deletion/duplication of the DMD gene in patients with DMD/BMD, while the deletion/duplication less than 100 kb may be inevitably unidentified, therefore it is recommended as an assistant screening technique in prenatal diagnosis for DMD gene deletion or duplication.

Objective:To explore the correlation between clinical classification and genotype and prognosis among Chinese children with Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).Methods:A Chinese pedigree affected with VLCADD admitted at the First People′s Hospital of Yunnan Province in February 2019 was selected as the study subject. The characteristics of disease onset, diagnosis and treatment and prognosis were retrospectively analyzed. Relevant literature was also systematically searched and reviewed.Results:The proband, a 1-year-old boy, had the clinical manifestations of frequently vomiting, hypoglycemia, abnormal liver function and myocardial enzymes. Tandem mass spectrometry screening showed significantly elevated C14, C14: 1, C16: 1, C16: 2, C18 and C14/C8. Genetic testing revealed that he has harbored compound heterozygous variants of the ACADVL gene, namely c. 664G>A (p.G222R) and c. 1345G>A (p.E449K), which were respectively derived from his father and mother. The child was diagnosed with VLCADD cardiomyopathy type and deceased 2 weeks later. Literature review has identified 60 Chinese children with VLCADD. The clinical classifications were mainly cardiomyopathy type and liver disease type, which accounted for 73.3% (43/60). The combination of ACADVL gene variants were correlated with the clinical classifications of VLCAD. Children with one or two loss-of-function (LOF) mutations showed more severe clinical manifestation and a higher mortality. Cardiomyopathy type had the poorest prognosis, with a mortality rate of 76.9% (20/26). C14: 1 may be used as an indicator for the diagnosis of VLCADD, but cannot be used for clinical subtyping and prognosis evaluation. The c. 1349G>A (p.R450H) variant had the highest frequency among the Chinese patients, accounting for 10.8% (13/120). Conclusion:The clinical classifications of VLCADD are strongly correlated with the prognosis, and LOF mutations are more common in those with severe clinical manifestations. c. 1349G>A (p.R450H) may be the most common variant among the Chinese patients, and early screening and diagnosis can greatly improve the prognosis of patients.

When performing eye movement pattern classification for different tasks, support vector machines are greatly affected by parameters. To address this problem, we propose an algorithm based on the improved whale algorithm to optimize support vector machines to enhance the performance of eye movement data classification. According to the characteristics of eye movement data, this study first extracts 57 features related to fixation and saccade, then uses the ReliefF algorithm for feature selection. To address the problems of low convergence accuracy and easy falling into local minima of the whale algorithm, we introduce inertia weights to balance local search and global search to accelerate the convergence speed of the algorithm and also use the differential variation strategy to increase individual diversity to jump out of local optimum. In this paper, experiments are conducted on eight test functions, and the results show that the improved whale algorithm has the best convergence accuracy and convergence speed. Finally, this paper applies the optimized support vector machine model of the improved whale algorithm to the task of classifying eye movement data in autism, and the experimental results on the public dataset show that the accuracy of the eye movement data classification of this paper is greatly improved compared with that of the traditional support vector machine method. Compared with the standard whale algorithm and other optimization algorithms, the optimized model proposed in this paper has higher recognition accuracy and provides a new idea and method for eye movement pattern recognition. In the future, eye movement data can be obtained by combining it with eye trackers to assist in medical diagnosis.
Animals ; Support Vector Machine ; Whales ; Eye Movements ; Algorithms

Objective To investigate the effects of Echinococcus multilocularis on the phenotypic transformations of glucose metabolism, polarization types and inflammatory responses in macrophages, so as to provide insights into elucidation of echinococcosis pathogenesis. Methods Bone marrow cells were isolated from C57BL/6J mice at ages of 6 to 8 weeks, and induced into bone marrow-derived macrophages (BMDMs) with mouse macrophage colony-stimulating factor (M-CSF), which served as controls (BMDMs-M0). BMDMs-M0 induced M2 macrophages by interleukin-4 for 24 hours served as the IL-4 induction group, and BMDMs-M0 co-cultured with 2.4 ng/mL E. multilocularis cystic fluid (CF) served as the BMDM-CF co-culture group, while BMDMs-M0 co-cultured with E. multilocularis protoscolex (PSC) at a ratio of 500:1 served as the BMDM-PSC co-culture group. The types of polarization of BMDMs co-cultured with E. multilocularis CF and PSC were analyzed using flow cytometry, and the expression of macrophage markers, inflammatory factors, and glucose metabolism-related enzymes was quantified using fluorescent quantitative real-time PCR (qPCR) and Western blotting assays. Results There were significant differences among the four groups in terms of Arginase-1 (Arg1) (F = 1 457.00, P < 0.000 1), macrophages-derived C-C motif chemokine 22 (Ccl22) (F = 22 203.00, P < 0.000 1), resistin-like α (Retnla) (F = 151.90, P < 0.000 1), inducible nitric oxide synthase (iNOS) (F = 107.80, P < 0.001), hexokinase (HK) (F = 9 389.00, P < 0.000 1), pyruvate kinase (PK) (F = 641.40, P < 0.001), phosphofructokinase 1 (PFK1) (F = 43.97, P < 0.01), glucokinase (GK) (F = 432.50, P < 0.000 1), pyruvate dehydrogenase kinases1 (PDK1) (F = 737.30, P < 0.000 1), lactic dehydrogenase (LDH) (F = 3 632.00, P < 0.000 1), glucose transporter 1 (GLUT1) (F = 532.40, P < 0.000 1), glyceraldehyde-3-phosphate dehydrogenase (GAPDH) (F = 460.00, P < 0.000 1), citrate synthase (CS) (F = 5 642.00, P < 0.01), glycogen synthase1 (GYS1) (F = 273.30, P < 0.000 1), IL-6 (F = 1 823.00, P < 0.000 1), IL-10 (F = 291.70, P < 0.000 1), IL-1β (F = 986.60, P < 0.000 1), and tumor necrosis factor (TNF)-α (F = 334.80, P < 0.000 1) and transforming growth factor (TGF)-β mRNA expression (F = 163.30, P < 0.001). The proportion of M2 macrophages was significantly higher than that of M1 macrophages in the BMDM-PSC co-culture group [(22.87% ±1.48%) vs. (1.70% ±0.17%); t = 24.61, P < 0.001], and the proportion of M2 macrophages was significantly higher than that of M1 macrophages in the BMDM-CF co-culture group [(20.07% ±0.64%) vs. (1.93% ±0.25%); t = 45.73, P < 0.001]. The mRNA expression of M2 macrophages markers Arg1, Ccl22 and Retnla was significantly higher in the BMDM-CF and BMDM-PSC co-culture groups than in the control group (all P values < 0.01), and no significant difference was seen in the mRNA expression of the M1 macrophage marker iNOS among the three groups (P > 0.05), while qPCR assay quantified higher mRNA expression of key glycolytic enzymes HK, PK and PFK, as well as inflammatory factors IL-10, IL-1β, TNF-α and TGF-β in the BMDM-CF and BMDM-PSC co-culture groups than in the control group (all P values < 0.01). Western blotting assay determined higher HK, PK and PFK protein expression in the BMDM-PSC co-culture group than in the control group (all P values < 0.05), and qPCR quantified higher GLUT1, GAPDH and IL-6 mRNA expression in the BMDM-CF co-culture group than in the control group (all P values < 0.05), while higher HK, PK and PFK protein and mRNA expression (all P values < 0.01), as well as lower IL-6 and TNF-α and higher TGF-β mRNA expression (both P values < 0.05) was detected in the IL-4 induction group than in the control group. Glycolytic stress test showed no significant difference in the extracellular acidification rate (ECAR) of mouse BMDM among the control group, IL-4 induction group and BMDM-PSC co-culture group (F = 124.4, P < 0.05), and a higher ECAR was seen in the BMDM-PSC co-culture group and a lower ECAR was found in the IL-4 induction group than in the control group (both P values < 0.05). Conclusions Treatment of E. multilocularis CF or PSC mainly causes polarization of BMDM into M2 macrophages, and phenotypic transformation of glucose metabolism into high-energy and high-glycolytic metabolism, and affects inflammatory responses in BMDM.

Brain Mapping ; Cognitive Dysfunction ; Humans ; Magnetic Resonance Imaging ; Schizophrenia/therapy* ; Transcranial Magnetic Stimulation