1.Systemic lupus erythematosus related thrombotic microangiopathy: A retrospective study based on Chinese SLE Treatment and Research Group (CSTAR) registry.
Yupei ZHANG ; Nan JIANG ; Zhen CHEN ; Xinwang DUAN ; Xiaofei SHI ; Hongbin LI ; Zhenyu JIANG ; Yuhua WANG ; Yanhong WANG ; Jiuliang ZHAO ; Qian WANG ; Xinping TIAN ; Mengtao LI ; Xiaofeng ZENG
Chinese Medical Journal 2025;138(5):613-615
2.Cross-session motor imagery-electroencephalography decoding with Riemannian spatial filtering and domain adaptation.
Lincong PAN ; Xinwei SUN ; Kun WANG ; Yupei CAO ; Minpeng XU ; Dong MING
Journal of Biomedical Engineering 2025;42(2):272-279
Motor imagery (MI) is a mental process that can be recognized by electroencephalography (EEG) without actual movement. It has significant research value and application potential in the field of brain-computer interface (BCI) technology. To address the challenges posed by the non-stationary nature and low signal-to-noise ratio of MI-EEG signals, this study proposed a Riemannian spatial filtering and domain adaptation (RSFDA) method for improving the accuracy and efficiency of cross-session MI-BCI classification tasks. The approach addressed the issue of inconsistent data distribution between source and target domains through a multi-module collaborative framework, which enhanced the generalization capability of cross-session MI-EEG classification models. Comparative experiments were conducted on three public datasets to evaluate RSFDA against eight existing methods in terms of classification accuracy and computational efficiency. The experimental results demonstrated that RSFDA achieved an average classification accuracy of 79.37%, outperforming the state-of-the-art deep learning method Tensor-CSPNet (76.46%) by 2.91% ( P < 0.01). Furthermore, the proposed method showed significantly lower computational costs, requiring only approximately 3 minutes of average training time compared to Tensor-CSPNet's 25 minutes, representing a reduction of 22 minutes. These findings indicate that the RSFDA method demonstrates superior performance in cross-session MI-EEG classification tasks by effectively balancing accuracy and efficiency. However, its applicability in complex transfer learning scenarios remains to be further investigated.
Electroencephalography/methods*
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Brain-Computer Interfaces
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Humans
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Imagination/physiology*
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Signal Processing, Computer-Assisted
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Movement/physiology*
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Signal-To-Noise Ratio
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Deep Learning
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Algorithms
3.Current Status and Future of Robotic Pancreatic Surgery
Bangbo ZHAO ; Weibin WANG ; Yupei ZHAO
Medical Journal of Peking Union Medical College Hospital 2024;15(4):729-733
Pancreatic surgery is characterized by great trauma, difficult operation, high risk and high complication rate. Minimally invasive, refined and standardized pancreatic surgery is the future trend. With its advantages of high precision, high safety, and more realistic and clear operating field, robotic pancreatic surgery has gradually become the preferred method of pancreatic surgery worldwide. In the past 10 years, more than a dozen large pancreas centers in China have matured to carry out robotic pancreatic surgery, including pancreaticoduodenectomy, pancreaticocaudectomy, pancreatic tumor enucleation, middle pancreatectomy, total pancreatectomy, pancreaticodectomy with duodenum preserved and other pancreatic surgery methods. However, there are still some problems in robotic pancreatic surgery, such as complex system construction, lack of force feedback, inadequate imaging fusion, and immature remote operation. Pancreatic surgeons should continue to carry out high-quality clinical studies on robotic pancreatic surgery to verify its safety and effectiveness, and standardize robotic pancreatic surgery with the accumulation of experience.
4.Association of lipid metabolism reprogramming with the development and progression of primary liver cancer
Feiyan LI ; Minggang WANG ; Dewen MAO ; Riyun ZHANG ; Na WANG ; Yinbing LUO ; Xiaoping LIU ; Yupei LIN
Journal of Clinical Hepatology 2024;40(8):1688-1692
Lipid metabolism,as the basis of life maintenance,is a prerequisite for cell survival,and lipid homeostasis can rapidly respond to metabolic changes in a coordinated manner.In cancers,there is an increase in lipid metabolism in cancer cells to meet the requirements for plasma membrane synthesis and energy production.Abnormal lipid metabolism plays an important role in the progression of primary liver cancer.This article reviews the association between abnormal lipid metabolism and primary liver cancer,in order to find targets for the prevention and treatment of primary liver cancer.
5.Genetic analysis of eighteen patients from Gansu province with Tetrahydrobiopterin deficiency
Chuan ZHANG ; Xinyuan TIAN ; Yupei WANG ; Panpan MA ; Xue CHEN ; Bingbo ZHOU ; Qinghua ZHANG ; Shengju HAO ; Ling HUI ; Zhe YIN ; Zongfu CAO
Chinese Journal of Medical Genetics 2024;41(2):129-133
Objective:To explore the genetic basis of eighteen patients with tetrahydrobiopterin deficiency (BH4D) from Gansu Province.Methods:Eighteen patients diagnosed with BH4D at Gansu Provincial Maternal and Child Health Care Hospital from January 2018 to December 2021 were selected as the study subjects. Whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing.Results:All of the thirty-six alleles of the eighteen patients were successfully determined by molecular genetic testing. Sixteen patients were found to harbor variants of the PTS gene, and two had harbored variants of the QDPR gene. Ten variants were detected in the PTS gene, with the most common ones being c. 259C>T (34.38%) and c. 286G>A (15.63%). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 259C>T was classified as a pathogenic variant, whilst the c. 286G>A, c. 166G>A, c. 200C>T, c. 272A>G, c. 402A>C, c. 421G>T, c. 84-291A>G and c. 317C>T were classified as likely pathogenic variants. A novel c. 289_290insCTT variant was classified as likely pathogenic (PM1+ PM2_Supporting+ PM3+ PP3+ PP4). The two variants (c.478C>T and c. 665C>T) detected in the QDPR gene were both classified as variants of uncertain significance (PM1+ PM2_Supporting+ PP3+ PP4). Conclusion:Genetic testing has clarified the pathogenic variants in these BH4D patients, which has enabled timely and accurate clinical intervention and treatment, and provided a reference for genetic counseling and reproductive guidance for their families.
6.Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome
Qinghua ZHANG ; Shengju HAO ; Ling HUI ; Lei ZHENG ; Xing WANG ; Xuan FENG ; Furong LIU ; Xue CHEN ; Bingbo ZHOU ; Yupei WANG ; Chuan ZHANG
Chinese Journal of Medical Genetics 2024;41(3):306-311
Objective:To explore the genetic basis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency (OTCD) and MECP2 duplication syndrome.Methods:A proband who was admitted to the Neonatal Intensive Care Unit of Gansu Provincial Maternal and Child Health Care Hospital on December 19, 2017 was selected as the study subject. High-throughput sequencing and multiplex ligation-dependent probe amplification (MLPA) were carried out for her pedigree, and short tandem repeat-based linkage analysis and chromosome copy number variation sequencing (CNV-seq) were used for the prenatal diagnosis.Results:The proband, a 3-day-old female, was found to harbor heterozygous deletion of exons 7-9 of the OTC gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PVS1+ PM2_Supporting+ PP4). The proband was diagnosed with OTCD, which was in keeping with her acute encephalopathy and metabolic abnormalities (manifesting as hyperammonemia, decreased blood citrulline, and increased urine orotic acid). Prenatal diagnosis was carried out for the subsequent pregnancy. The fetus did not harbor the exons 7-9 deletion of the OTC gene, but was found to carry a duplication in Xq28 region (which encompassed the whole region of MECP2 duplication syndrome) and was positive for the SRY sequence. The same duplication was also found in the proband and her mother. Considering the possible existence of X-chromosome inactivation, the proband was diagnosed with two X-linked recessive disorders including OTCD and MECP2 duplication syndrome, and the fetus was determined as a male affected with the MECP2 duplication syndrome. Conclusion:Discoveries of the pathogenic variants underlying the OTCD and MECP2 duplication syndrome have enabled clinical intervention, treatment, genetic counseling and prenatal diagnosis for this pedigree.
7.Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome
Huifang CHEN ; Chuan ZHANG ; Bingbo ZHOU ; Yupei WANG ; Xue CHEN ; Ling HUI
Chinese Journal of Medical Genetics 2024;41(3):363-367
Objective:To explore the genetic basis for a patient with unexplained developmental delay and special facial features.Methods:A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing.Results:The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c. 1123G>C (p.E375Q) variant of the CHD3 gene, neither of which was detected in his parents. Conclusion:The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.
8.Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene
Ruiqiong YANG ; Ling HUI ; Chuan ZHANG ; Qinghua ZHANG ; Yupei WANG ; Shengju HAO
Chinese Journal of Medical Genetics 2024;41(4):456-460
Objective:To explore the genetic basis for a patient with autosomal dominant retinitis pigmentosa (RP).Methods:A male patient with RP treated at Gansu Provincial Maternal and Child Health Care Hospital in September 2019 was selected as the study subject. Clinical data was collected. Peripheral blood samples of the patient and his parents were subjected to whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results:The patient, a 29-year-old male, developed night blindness, amblyopia, visual field defects and optic disc abnormalities since childhood. Gene sequencing revealed that he has harbored a heterozygous c. 942G>C (p.Lys314Asn) variant of the IMPDH1 gene, which was inherited from his mother, whilst his father was of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics, the c. 942G>C variant was predicted as likely pathogenic (PM1+ PM2_Supporting+ PP3+ PP1). Conclusion:The c. 942G>C (p.Lys314Asn) variant in the IMPDH1 gene probably underlay the RP in this patient.
9.Clinical and genetic analysis of two pedigree affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene
Qinghua ZHANG ; Xuan FENG ; Xing WANG ; Furong LIU ; Bingbo ZHOU ; Chuan ZHANG ; Yupei WANG ; Jingyun SHI ; Shengju HAO ; Ling HUI ; Bin YI
Chinese Journal of Medical Genetics 2024;41(4):467-472
Objective:To analyze the clinical phenotype and genotypes of two children with Carnitine-acylcarnitine translocase deficiency (CACTD).Methods:Two children diagnosed with CACTD at the Gansu Provincial Maternal and Child Health Care Hospital respectively on January 3 and November 19, 2018 were selected as the study subjects. Trio-whole exome sequencing (trio-WES) was carried out, and candidate variants were validated through Sanger sequencing and pathogenicity analysis.Results:Both children were males and had manifested mainly with hypoglycemia. Trio-WES and Sanger sequencing showed that child 1 had harbored compound heterozygous variants of the SLC25A20 gene, namely c. 49G>C (p.Gly17Arg) and c. 106-2A>G, which were inherited from his father and mother, respectively. Child 2 had harbored homozygous c. 199-10T>G variants of the SLC25A20 gene, which were inherited from both of his parents. Among these, the c. 106-2A>G and c. 49G>C variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 49G>C (p.Gly17Arg), c. 106-2A>G, and c. 199-10T>G variants were classified as likely pathogenic (PM2_supporting+ PP3+ PM3_strong+ PP4), pathogenic (PVS1+ PM2_supporting+ PM5+ PP3), and pathogenic (PVS1+ PM2_supporting+ PP3+ PP5), respectively. Conclusion:Combined with their clinical phenotype and genetic analysis, both children were diagnosed with CACTD. Above finding has provided a basis for their treatment as well as genetic counseling and prenatal diagnosis for their families.
10.Characteristics of retinal microcirculation after phacoemulsification and factors affecting visual acuity
Jiqi ZHENG ; Yupei FENG ; Guobin WANG ; Jianming CHEN ; Chen GAO ; Mei ZHANG ; Dengting WANG
International Eye Science 2024;24(2):270-276
AIM:To investigate the changes of retinal microcirculation after phacoemulsification and the influencing factors of visual acuity.METHODS: Retrospective analysis. A total of 264 cataract patients(264 eyes)who underwent phacoemulsification in our hospital from January 2022 to December 2022 were selected as the study objects. Patients were divided into < 0.3 group(66 eyes)and ≥0.3 group(198 eyes)according to the recovery of best corrected visual acuity(BCVA)at 3 mo after surgery. The changes of retinal microcirculation indexes were compared before and after treatment. Logistic regression and LASSO regression models were used to screen the influencing factors of postoperative BCVA. A nomogram prediction model of postoperative BCVA was constructed and verified. A restricted cubic spline Logistic regression model was established to analyze the dose-response relationship between end-diastolic velocity(EDV), peak systolic velocity(PSV)and the risk of BCVA recovery.RESULTS: At 3 mo postoperatively, EDV and PSV were significantly improved compared with those before treatment, and resistance index(RI)levels were significantly lower than those before treatment(all P<0.05). Preoperative EDV, PSV, aqueous humor cell grade, fundus lesion grade, advanced age and Emery grade were influencing factors for poor BCVA recovery after phacoemulsification in cataract patients(P<0.05). The AUC before and after validation of the nomogram model by Bootstrap method were 0.869(95%CI: 0.815-0.903)and 0.866(95%CI: 0.802-0.895), respectively. The sensitivity was 88.36% and 88.27%, and the specificity was 91.82% and 91.78%, respectively. Restricted cubic spline model analysis showed no nonlinear dose-response relationship between EDV and PSV levels and the risk of poor BCVA recovery in either male or female(P>0.05).CONCLUSION: After phacoemulsification, retinal microcirculation in cataract patients improved significantly. EDV, PSV, aqueous humor cell grade, fundus lesion grade, advanced age and Emery grade are all factors influencing poor BCVA recovery after cataract surgery.

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