1.Research Progress on the Correlation Between Mitophagy and Vascular Cognitive Impairment
Yan LIU ; Xingang DONG ; Xiaoyuan WANG ; Gege QI ; Yiqin REN ; Lianpeng ZHOU ; Hui LI ; Suqing ZHANG ; Weifeng LI
Medical Journal of Peking Union Medical College Hospital 2025;16(2):338-349
Vascular cognitive impairment (VCI), caused by cerebrovascular dysfunction, severely impacts the quality of life in the elderly population, yet effective therapeutic approaches remain limited. Mitophagy, a selective mitochondrial quality-control mechanism, has emerged as a critical focus in neurological disease research. Accumulating evidence indicates that mitophagy modulates oxidative stress, neuroinflammation, and neuronal apoptosis. Key signaling pathways associated with mitophagy—including PINK1/Parkin, BNIP3/Nix, FUNDC1, PI3K/Akt/mTOR, and AMPK—have been identified as potential therapeutic targets for VCI. This review summarizes the mechanistic roles of mitophagy in VCI pathogenesis and explores emerging therapeutic strategies targeting these pathways, aiming to provide novel insights for clinical intervention and advance the development of effective treatments for VCI.
2.Novel autosomal dominant syndromic hearing loss caused by COL4A2 -related basement membrane dysfunction of cochlear capillaries and microcirculation disturbance.
Jinyuan YANG ; Ying MA ; Xue GAO ; Shiwei QIU ; Xiaoge LI ; Weihao ZHAO ; Yijin CHEN ; Guojie DONG ; Rongfeng LIN ; Gege WEI ; Huiyi NIE ; Haifeng FENG ; Xiaoning GU ; Bo GAO ; Pu DAI ; Yongyi YUAN
Chinese Medical Journal 2025;138(15):1888-1890
3.Development and application of chiral separation technology based on chiral metal-organic frameworks.
Gege ZHU ; Li GE ; Xinyu LI ; Bing NIU ; Qin CHEN ; Dan ZHONG ; Xiaodong SUN
Journal of Pharmaceutical Analysis 2025;15(7):101176-101176
Chirality is not only a natural phenomenon but also a bridge between chemistry and life sciences. An effective way to obtain a single enantiomer is through racemates resolution. Recent literature shows that chiral metal-organic frameworks (CMOFs) have many applications in various fields because of their diverse topologies and functionalities. This review outlines the design idea and summarizes the latest synthesis strategies and applications of CMOFs. It highlights key advances and issues in the separation domain. In conclusion, the review provides perspectives on the challenges and prospective advancements of CMOFs materials and CMOFs-based separation technologies.
4.Effect of family resilience on ischemic stroke patients:a hermeneutic phenomenological study
Yanqiu LU ; Li YAN ; Ning XIAO ; Gege HE ; Xinhua ZENG
Modern Clinical Nursing 2024;23(5):44-50
Objective To investigate the influence of family resilience on patients with ischemic stroke and provide references for promoting positive handling of patients and the family adaptation.Methods Objective sampling was employed to conduct the semi-structured interviews among 20 patients with ischemic stroke in a Grade ⅢA hospital in Hunan Province between June and September 2021.The data acquired from the interviews were analysed and summarised following Colaizzi analysis method.Results A total of three themes with 10 dimensions were extracted,including promoting post-traumatic growth of patients with 3 dimensions(accepting and attaching importance to the disease to develop a right recognition of the disease,enhancing the will to combat the disease and increasing rehabilitative awareness to develop a healthy life style,cultivating spiritual believes to increase the sense of adversity;stabilising family function and providing emotional support with 4 dimensions in creating safe and satisfactory family settings,facilitating active communications among family members to jointly make decisions fighting against the disease,optimising the roles of family members,and fortifying the cohesion among family members;and proving spiritual comfort and material support with 3 dimensions of providing mutual support among family members to reduce the costs of treatment,improving family intimacy and adaptive support to reduce negative emotions,and seeking support from society to reduce financial burdens.Conclusions Family resilience brings influences to the patients with ischemic stroke from multiple perspectives.It can promote post-traumatic growth,stabilise family functions,provide emotional support,and provide spiritual consolation as well as financial support.Therefore,healthcare workers should enhance the family resilience and ensure the role of family functions to promote an early recovery of patients.
5.Genetic analysis of a case with Al Kaissi syndrome and a literature review
Gege SUN ; Ganye ZHAO ; Shuang HU ; Hua′nan REN ; Li WANG ; Li′na LIU ; Xiangdong KONG
Chinese Journal of Medical Genetics 2024;41(2):193-198
Objective:To explore the genetic etiology of a child with delayed growth and development and carry out a literature review.Methods:A child suspected for Al Kaissi syndrome at the First Affiliated Hospital of Zhengzhou University on March 6, 2021 was selected as the study subject. Following extraction of genomic DNA, the child was subjected to copy number variation sequencing (CNV-seq) and whole exome sequencing (WES), and candidate variants were verified by PCR-agarose gel electrophoresis and quantitative real-time PCR (qPCR). Prenatal diagnosis was conducted on chorionic villi sample upon subsequent pregnancy.Results:The child, a 6-year-and-4-month-old boy, has dysmorphic features including low-set protruding ears and triangular face, delayed language and intellectual development, and ventricular septal defect. CNV-seq result has found no obvious abnormality, whilst WES revealed homozygous deletion of exons 1 and 2 of the CDK10 gene, which was confirmed by PCR -agarose gel electrophoresis and qPCR. Both of his parents were heterozygous carriers. Prenatal diagnosis using chorionic villi samples suggested that the fetus also carried the heterozygous deletion.Conclusion:The clinical features of Al Kaissi syndrome in this child can probably be attributed to the homozygous deletion of exons 1 and 2 of the CDK10 gene.
6.Genetic analysis of a Chinese pedigree affected with Branchio-oculo-facial syndrome and a literature review
Ke LI ; Hengqing SUN ; Yu GUO ; Gege SUN ; Huikun DUAN ; Xiangdong KONG ; Ning LIU
Chinese Journal of Medical Genetics 2024;41(9):1084-1089
Objective:To explore the genetic etiology of a Chinese pedigree affected with Branchio-oculo-facial syndrome (BOFS) and summarize the prenatal phenotype of BOFS patients.Methods:A pedigree with BOFS which had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University in December 2021 was selected as the study subject. Clinical data of the pedigree was collected. The fetus was subjected to routine prenatal ultrasound scan. Trio-whole exome sequencing (trio-WES) was carried out for the fetus and its parents, and candidate variant was verified by Sanger sequencing. Relevant literature was searched from the database to summarize the prenatal phenotype of BOFS patients. This study was approved by the First Affiliated Hospital of Zhengzhou University (Ethics No. KS-2018-KY-36).Results:Ultrasound exam suggested the fetus had cleft lip and palate. Its father had presented with high palatal arch, prematurely grayed hair, occult cleft lip, congenital preauricular fistula, red-green color blindness and unilateral renal agenesis. Its grandfather also had high palatal arch, prematurely gray hair, protruding ears, congenital preauricular fistula and hearing disorders. Trio-WES revealed that the fetus and its father had both harbored a heterozygous c. 890-1G>A variant of the TFAP2A gene. The same variant was not found in its mother. Sanger sequencing confirmed that its grandfather had also harbored the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PVS1+ PM2_Supporting). Combined with 36 similar cases retrieved from the literature, the prenatal phenotypes of BOFS patients had included growth restriction (25/37), renal abnormalities (10/37), cleft lip and palate (5/37) and oligohydramnios (5/37). Conclusion:The c. 890-1G>A variant of the TFAP2A gene probably underlay the pathogenesis of BOFS in this pedigree. Discovery of the novel variant has enriched the mutational spectrum of the TFAP2A gene. The common prenatal phenotypes of BOFS have included growth restriction, renal abnormalities, cleft lip and palate and oligohydramnios. Delineation of the intrauterine phenotype of BOFS may facilitate its prenatal diagnosis, clinical diagnosis, treatment and genetic counseling.
7.CMPK2 promotes CD4+T cell pyroptosis via NLRP3 in systemic lupus erythematosus
Yanan Tan ; Gege Jiang ; Li Jin ; Nan Xiang ; Xiaoge Sun ; Xiaoyi Jia ; Min Zhang
Acta Universitatis Medicinalis Anhui 2024;59(12):2215-2221
Objective:
To investigate the levels of cytidine/uridine monophosphate kinase 2(CMPK2) expression in CD4+T cells of systemic lupus erythematosus(SLE) patients and its correlation with clinical indicators. Additionally, to explore whether CMPK2 can induce pyroptosis in CD4+T cells of SLE patients through NLRP3, potentially providing a new target for the diagnosis and treatment of SLE.
Methods:
RT-qPCR and Western blot analyses were used to assess the gene and protein expression levels of CMPK2 in SLE CD4+T cells and healthy controls(HC). Pearson or Spearman correlation analysis was performed to evaluate the relationship between CMPK2 mRNA expression levels and clinical indicators. Subsequently, the expression levels of pyroptosis-related proteins, including NLRP3, apoptosis-associated speck-like protein containing a CARD(ASC), caspase-1, gasdermin D(GSDMD), and the N-terminal domain of GSDMD(GSDMD-N), were examined in SLE CD4+T cells and HC. Furthermore, the protein expression levels of NLRP3, ASC, caspase-1, GSDMD, and GSDMD-N were detected after silencingCMPK2in SLE CD4+T cells.
Results:
CMPK2 expression was significantly elevated in SLE CD4+T cells, exhibiting a positive correlation with SLE disease activity index(SLEDAI), anti-dsDNA antibody, anti-nucleosome antibody, anti-C1q antibody, and a negative correlation with complement C3 and C4 levels. Additionally, the expression levels of pyroptosis-related proteins, including NLRP3, ASC, caspase-1, GSDMD, and GSDMD-N significantly increased in SLE CD4+T cells(P<0.05), Moreover, the levels of cytokines IL-1β and IL-18 in the cell culture supernatants were elevated, and there was a notable increase in the rate of cellular pyroptosis(P<0.05). Silencing CMPK2 led to a reduction in the levels of these markers(P<0.05).
Conclusion
CMPK2 is highly expressed in SLE CD4+T cells and may serve as a diagnostic marker for SLE. Moreover, it is likely involved in the pathogenesis of SLE by promoting CD4+T cell pyroptosis through NLRP3.
8.Thrombus permeability predicts the outcome after endovascular therapy in patients with middle cerebral artery occlusive stroke
Jiangyan QIN ; Mengrong SHI ; Jiahui WANG ; Zheng FAN ; Gege LEI ; Yanjing LI ; Li DAN
International Journal of Cerebrovascular Diseases 2024;32(6):401-406
Objective:To investigate the predictive value of thrombus permeability for poor outcome and symptomatic intracranial hemorrhage (sICH) after endovascular therapy (EVT) in patients with middle cerebral artery occlusion stroke.Methods:Patients with middle cerebral artery occlusion stroke underwent EVT at the Cardiocerebrovascular Disease Hospital, the Affiliated Hospital of Yan'an University from January 2018 to January 2024 were included retrospectively. Thrombus attenuation increase (TAI) was used to evaluate thrombus permeability. The poor outcome was defined as a modified Rankin Scale score >2 at 90 days after procedure. sICH was defined as an increase of ≥4 of the National Institutes of Health Stroke Scale (NIHSS) score relative to baseline or lowest within 7 days after EVT, and CT scan showed cerebral hemorrhage. Multivariate logistic regression analysis was used to determine the independent influencing factors of poor outcome and sICH. Receiver operating characteristic (ROC) curves was used to evaluate the predictive value of TAI for poor outcome and sICH. Results:A total of 77 patients with middle cerebral artery occlusion stroke received EVT treatment were enrolled, including 44 males (57.1%), aged 62.1±12.4 years. Thirty-three patients (48.1%) had poor outcome, 35 (45.5%) experienced hemorrhagic transformation, of which 12 (15.6%) were sICH. Multivariate logistic regression analysis showed that TAI (odds ratio [ OR] 0.930, 95% confidence interval [ CI] 0.883-0.980; P=0.007) and sICH ( OR 0.868, 95% CI 0.784-0.961; P=0.006) were the independent influencing factors of poor outcome. ROC curve analysis showed that the area under the curve of TAI for predicting poor outcome at 90 days was 0.836 (95% CI 0.742-0.930). The cut-off value was 10.135 HU. The sensitivity and specificity were 73.0% and 92.5%, respectively. The area under the curve of TAI for predicting sICH was 0.750 (95% CI 0.637-0.902). The cut-off value was 18.200 HU. The sensitivity and specificity were 94.1% and 64.5%, respectively. Conclusions:TAI has certain predictive value for poor outcome and sICH after EVT in patients with middle cerebral artery occlusion stroke. Patients with higher thrombus permeability are less likely to develop sICH after EVT and have a higher likelihood of good outcome.
9.Research advance on ubiquitin-specific protease 14 as novel carcinogenesis biomarker
Changlong ZHOU ; Gege LI ; Lu WANG ; Hongmei CUI
Journal of Environmental and Occupational Medicine 2023;40(6):722-727
Hazardous environmental factors as well as occupational factors can lead to elevated incidence of diseases including tumors, and specific molecular biomarkers are needed to guide the diagnosis and treatment of diseases. In recent years, ubiquitin-specific protease 14 (USP14) has gradually attracted the attention of researchers. USP14 is widely expressed in various organs of human body and regulates the stability and degradation of important proteins in various signaling pathways. Studies have shown that its abnormal expression is highly correlated with tumors, neurodegenerative diseases, autophagy, immune response, and viral infections, and is involved in the regulation of various classic signaling pathways. It has been shown to play a key role in the development of various human diseases and can be used as a diagnostic and prognostic molecular biomarker and therapeutic target in the development of tumors. This paper reviewed the current status of research on the structure and regulation of USP14 and its function in physiological and pathological processes, with the aim of providing a reference for research on diseases or injuries caused by environmental and occupational factors.
10.The Humanistic Significance of the Application of Peer Education Mode in Urological Tumors Patients during Perioperative Period
Li WANG ; Yue’e HUANG ; Gege ZHAO ; Mei GAO ; Hui ZHANG ; Wenpin LIU ; Min ZHANG ; Le ZHAO ; Liandong ZHANG
Chinese Medical Ethics 2023;36(5):518-522
【Objective:】 To study the application and effect of peer education mode in the nursing of patients with urinary tumor, and explore the ways to improve the quality of clinical care and the humanistic significance of this mode in clinical nursing. 【Methods:】 84 patients with urological tumors who received surgical treatment in urology department of a third-class hospital from March 2021 to December 2021 were randomly divided into the control group and the experimental group, with 42 patients in each group. The subjects in control group adopted routine intervention mode.The subjects in experimental group integrated the peer education program into the routine nursing mode.SAS and SDS scales were used to evaluate patients’ state of anxiety and depression, and the degree of nursing satisfaction. 【Results:】 The scores of SAS and SDS in the experimental group were significantly lower than that of the experimental group before intervention and the control group after intervention (P<0.05).The number of very satisfied, moderately satisfied and dissatisfied cases in the control group was 12, 29 and 1 respectively, and in the experimental group was 19, 23 and 0 respectively. The difference was statistically significant (P<0.05). 【Conclusion:】 Adopting peer education with humanistic care significance can effectively alleviate patients’ preoperative anxiety, depression and other adverse mental state, reduce preoperative stress, and provide a new way for nursing quality.


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