1.Research advances in mitochondrial biogenesis and ischemic stroke
Fenglin CHEN ; Xiaohua SHI ; Jiaoqi WANG
Journal of Apoplexy and Nervous Diseases 2024;41(10):950-955
Ischemic stroke has become the leading cause of mortality and disability among adults in China.After ce-rebral ischemia,various pathological and physiological pathways,including the increase in oxygen free radicals,inflam-matory response,calcium overload,and energy metabolism disorders,can disrupt cellular homeostasis,cause mitochon-drial dysfunction,and finally lead to cell apoptosis.By generating new functional mitochondria to replace damaged ones and restoring mitochondrial function,mitochondrial biogenesis(MB)is the primary mechanism for maintaining mitochon-drial homeostasis and plays a crucial role in mitochondrial quality control.In recent years,with the in-depth research on the mechanisms of ischemic stroke injury,MB has emerged as a potential therapeutic target.This article reviews the re-search advances in the role and mechanisms of MB in cerebral ischemic injury,in order to provide a theoretical reference for neuroprotective treatment in ischemic stroke.
2.Amyotrophic lateral sclerosis caused by a rare mutation in the SOD1 gene at p. H44R locus: a case report and literature review
Journal of Apoplexy and Nervous Diseases 2023;40(11):1040-1044
Objective This study aims to explore the clinical characteristics of common mutation sites in the SOD1 gene and provide assistance for the early identification, diagnosis, and course evaluation of amyotrophic lateral sclerosis (ALS). Methods The clinical data and genetic testing results of a patient with ALS caused by the c.131A>G:p.H44R mutation in the second exon of the SOD1 gene were retrospectively analyzed and discussed in conjunction with the literature. Results The patient presented with pain and weakness in the right lower limb accompanied by muscle atrophy. No positive signs were observed in the sensory system. The electromyogram revealed subclinical neurogenic changes in the unaffected limbs. Whole-exome sequencing identified a rare mutation in exon c.131A>G:p.H44R of the SOD1 gene. Conclusion Early diagnosis of ALS is challenging, and the clinical manifestations vary depending on the gene site mutations. Genetic testing can assist in diagnosis and has significant identification value in the early stages of the disease.
3.Application value of serum carbonic anhydraseⅢas a new biomarker in the clinical diagnosis of Alzheimer disease
Jiaoqi REN ; Jinxiu WANG ; Jiantao WANG ; Yanli ZHANG ; Xuechun WANG ; Jingchun GUO ; Houguang ZHOU
Chinese Journal of Clinical Medicine 2024;31(5):696-704
Objective To explore the application value and related factors of serum carbonic anhydraseⅢ(CAⅢ)in the clinical diagnosis of mild to moderate Alzheimer disease(AD).Methods A total of 106 elderly patients initially diagnosed with mild to moderate AD at Huashan Hospital,Fudan University from October 2020 to November 2022 were enrolled as the AD group,and 89 healthy elderly people during the same period were enrolled as the control group.The serum biochemical indicators including liver and kidney function,blood lipids,blood glucose,folic acid and homocysteine were detected in both groups.Cognitive function was assessed by Mini-mental State Examination(MMSE).Patient Health Questionnaire-9(PHQ-9)and Generalized Anxiety Disorder-7(GAD-7)were used to assess psychological status.The activities of daily living(ADL)were assessed by modified Barthel Index(BI).Serum CAⅢlevels were measured by enzyme-linked immunosorbent assay(ELISA).Correlation analysis and multivariate linear regression analysis were used to identify factors influencing serum CAⅢlevels,and receiver operating characteristic(ROC)curve analysis was performed to evaluate the diagnostic value of serum CAⅢlevels in elderly patients with mild to moderate AD.Results The MMSE score of the AD group was significantly lower than that of the control group(P<0.001),and the PHQ-9 and GAD-7 scores were significantly higher than those of the control group(P<0.001).The serum CAⅢlevel in the AD group was significantly lower than that in the control group(P<0.000 1).In patients with AD,serum CAⅢlevels in patients with a disease course>3 years,accompanied by depression or anxiety,moderate AD,and serum creatinine≤111 μmol/L were significantly lower than those in patients with a disease course≤3 years,normal emotions,mild AD,and serum creatinine>111 μmol/L(P<0.05).Correlation analysis and multivariate linear regression analysis showed that serum CAⅢlevels were negatively correlated with disease duration,PHQ-9 score,GAD-7 scores and severity degree,positively correlated with serum creatinine level(P<0.05).The PHQ-9 score,severity degree,and serum creatinine level were independent related factors for serum CAⅢlevel in mild to moderate AD elderly patients(P<0.05).ROC curve result showed that the area under the curve(AUC)of serum CAⅢin diagnosing mild to moderate AD in elderly patients was 0.946,with sensitivity and specificity of 88.79% and 96.74%,respectively.Conclusions Serum CAⅢlevels in elderly patients with mild to moderate AD are higher than those in healthy individuals.Mild AD,without depressive mood,and elevated serum creatinine levels are related factors for elevated serum CAⅢlevels in elderly AD patients.Serum CAⅢmay serve as a novel biological marker for the diagnosis of mild to moderate AD in the elderly.
4.Research progress on event-related potential P300 in cognitive dysfunction in Parkinson disease
Yijin HUANG ; Jiaoqi WANG ; Zhongxin XU
Journal of Apoplexy and Nervous Diseases 2023;40(12):1145-1148
Parkinson disease (PD) is a common neurodegenerative disease. Cognitive dysfunction seriously affects the quality of life of patients with PD, increasing their family burden. Currently, there are no clinically identified biomarkers to assist with the early diagnosis of cognitive impairment in patients with PD. Event-related potential P300 is a sensitive electrophysiological indicator to detect early insidious cognitive decline in PD. This article reviews the diagnostic value and clinical application of P300 for cognitive impairment in patients with PD.
5.Analysis of the current status and influencing factors of cognitive function and sleep quality of elderly people in Shanghai community
Yanli ZHANG ; Meng WANG ; Xuechun WANG ; Shanshan HUANG ; Jiaoqi REN ; Houguang ZHOU
Chinese Journal of Clinical Medicine 2025;32(1):58-64
Objective To analyze the cognitive function and sleep quality of the elderly in Shanghai community, and explore the related influencing factors. Methods A stratified cluster random sampling method was used to select 8 community health centers in Shanghai for a questionnaire survey, including 3 677 elderly individuals who completed the “Comprehensive Health Status Survey of Elderly Residents in Shanghai” from September 2023 to November 2023. Basic information of the elderly was collected, including age, gender, education level, smoking, drinking, mahjong playing behavior, and exercise habits. The Pittsburgh sleep quality index (PSQI) was used to assess the sleep quality of the elderly, subjective cognitive decline (SCD) self-assessment questionnaire and Mini-Mental State Examination (MMSE) were used to evaluate cognitive function, while the Hamilton Anxiety Scale (HAMA) and patient health questionnaire-9 (PHQ-9) were used to assess anxiety and depression levels, and the mini nutritional assessment (MNA) was used to evaluate nutritional status. According to the MMSE scores, the elderly were divided into three groups: no cognitive impairment (MMSE ≥ 27), mild cognitive impairment (MMSE 21-26), and moderate to severe cognitive impairment (MMSE ≤ 20). The general data, lifestyle habits, and scale scores of the three groups were compared. Ordered logistic regression was used to analyze the influencing factors of sleep quality. Results There were statistically significant differences in age, gender, waist circumference, body mass index (BMI), education level, pet ownership, smoking, drinking, mahjong playing behavior, exercise habits, and scale scores among the three groups (P<0.05). Logistic regression analysis showed that age, waist circumference, gender, drinking habits, mahjong playing behavior, and chronic comorbidities are influencing factors for the PSQI grading in the elderly (P<0.05). The MMSE score (OR=1.037, P=0.001), SCD score (OR=1.123, P<0.001), HAMA score (OR=1.183, P<0.001), PHQ-9 score (OR=1.249, P<0.001) are positive influencing factors for PSQI grading, while the MNA score is a negative influencing factor (OR=0.960, P=0.037). Conclusions Advanced age, female gender, low education level, no pet ownership, no mahjong playing behavior, no exercise habits, and poor sleep quality are risk factors for cognitive impairment in the elderly. Advanced age, female gender, no mahjong playing behavior and poor nutritional status are influencing factors for poor sleep quality in the elderly, and severe comorbidities, anxiety, depression, and subjective decline in cognitive function all affect sleep quality.