1.GBA1 Thr408Met mutation in a patient with Parkinson’s disease
Yi ZHAO ; Junwen LI ; Chunlian JU ; Weibin QIU ; Bo ZUO ; Zhigang YANG ; Yansheng LI
Chinese Journal of Clinical Medicine 2025;32(3):524-528
GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing, leading to a diagnosis of GBA1-associated PD. The patient’s motor symptoms were primarily characterized by bradykinesia and rigidity, without significant cognitive decline. Treatment with low-dose levodopa combined with a dopamine agonist resulted in significant symptomatic improvement.
2.Study on the Evolution Principles of Traditional Chinese Medicine syndromes and fNIRS Cerebral Hemodynamic Characteristics in Patients with Alzheimer's Disease
Mengxue ZHANG ; Yanjie QU ; Qian LI ; Chao GU ; Limin ZHANG ; Minrui DING ; Tong ZHANG ; Rongrong ZHEN ; Hongmei AN
Journal of Traditional Chinese Medicine 2024;65(6):600-608
ObjectiveTo explore the evolution principles of symptoms including deficiency, phlegm and blood stasis, and of the functional near-infrared spectroscopy (fNIRS) cerebral hemodynamic characteristics at various stages in patients of Alzheimer's disease. MethodsA total of 497 patients with complaint of memory loss were included, and were divided into subjective cognitive decline (SCD) group (198 participants), mild cognitive impairment (MCI) group (228 participants) and dementia (AD) group (71 participants). Neuropsychological evaluation, traditional Chinese medicine (TCM) syndrome investigation, and fNIRS data collection of prefrontal cortex were performed in each group. Descriptive statistics were used to analyze the distribution of TCM syndromes and the difference of TCM syndrome scores in each group; logistic regression was used to analyze the influence of TCM syndromes on the incidence of the patients; association rules were used to analyze the TCM syndromes of the patients; the hemodynamic characteristics of fNIRS in the prefrontal cortex of each group were compared. ResultsKidney essence deficiency syndrome was the dominant syndrome in all stages of AD. There were statistically significant differences in the distribution frequency of kidney essence deficiency, phlegm turbidity obstructing orifices, blood stasis obstructing collaterals, qi and blood deficiency, heat toxin in the interior, and fu-organ stagnation and turbidity retention syndromes among the three groups (P<0.01), and the scores of kidney essence deficiency syndrome among the three groups were statistically significant (P<0.01). Logistic regression analysis showed that kidney essence deficiency, and qi and blood deficiency syndromes were the main risk factors for the SCD group (P<0.05), phlegm turbidity obstructing orifices syndrome was the main risk factor for the MCI group (P<0.05), and heat toxin in the interior, and fu-organ stagnation and turbidity retention syndromes were the main risk factors for the AD group (P<0.05). The association rule analysis showed that the combination of kidney essence deficiency plus phlegm turbidity obstructing orifices had the highest support (33.33%) in the SCD group, and the combination of kidney essence deficiency plus blood stasis obstructing collaterals had the highest support (32.90% and 52.13%) in both the MCI and AD group. The prefrontal fNIRS results showed that the mean ∆HbO2 concentration in the left dorsolateral prefrontal cortex (LDLPFC) decreased sequentially among the three groups (P<0.05), and the mean ∆HbO2 concentration in the LDLPFC was negatively correlated with the MoCA score among the three groups (r = -0.142, P<0.05). Further analysis showed that the mean ∆HbO2 concentration in the LDLPFC of patients with kidney essence deficiency syndrome were statistically significant differences among the three groups (P<0.05). ConclusionKidney deficiency is the basis of the pathogenesis of AD, and the key brain area damaged is the LDLPFC. Turbid pathogens such as phlegm and blood stasis are the pathological factors that aggravate the disease, and the syndromes of AD show the evolution law of deficiency and excess as “kidney deficiency→phlegm turbidity→blood stasis→turbid toxin”. The changes in prefrontal hemodynamics based on fNIRS are consistent with the changes in the characteristics of symptoms, which can be used to assess the degree of cognitive impairment in AD patients.
3.Health information needs of inpatients with chronic diseases and utilization of community health resources in the comprehensive hospitals in Shanghai
Meng LIU ; Xianjin JIANG ; Ling TONG ; Xiujuan WANG ; Chengang ZHANG ; Guizhen YUE ; Huizhen WANG ; Chenyu WANG ; Yang MENG ; Dong YUAN
Shanghai Journal of Preventive Medicine 2023;35(9):915-920
ObjectiveTo understand the health information needs of chronic disease inpatients and the current utilization of community health resources, and to analyze the influencing factors, so as to provide basis for personalized and high-quality health education for chronic disease inpatients and to guide them to make full use of community health resources. MethodsFrom November 2020 to February 2021, we conducted a face-to-face multi-center clinical epidemiological survey with paper questionnaire in three general hospitals of Shanghai. The study included 404 inpatients with diabetes, hypertension, coronary heart disease, chronic respiratory diseases, cancer and other chronic diseases. Results94.01% of the 404 respondents had different needs for disease or health related information, and there was no significant difference between patients of different ages, genders and educational backgrounds in their needs for health knowledge. Among these patients, only 39.11% of them participated in the establishment of a card for chronic disease management in the community or signed for a family doctor. The participation rate of male patients was lower than that of female patients (P<0.05). ConclusionPatients with chronic diseases have a high demand for health related information, and we need to provide health information in multiple ways. We should increase investment in community health resources, improve service quality, and guide residents with chronic diseases to make full use of community health resources.
4.Factors associated with overweight or obesity in community patients with schizophrenia in Shanghai
Yanli LIU ; Weibo ZHANG ; Siyuan HE ; Weiyun XU ; Qing ZHOU ; Yihua JIANG ; Yanping ZHANG ; Jun CAI
Shanghai Journal of Preventive Medicine 2023;35(5):426-432
ObjectiveTo investigate the prevalence of overweight or obesity in community patients with schizophrenia in Shanghai and to explore the related factors. MethodsStratified cluster sampling method was used and the general condition, physical examination and laboratory examination data of patients with schizophrenia who voluntarily participated in 2020 free health examination of National Basic Public Health Service were analyzed. ResultsA total of 3 200 patients were included into the study ,and the prevalence of overweight and obesity was 36.75% and 17.19%, respectively. Multivariate logistic regression analysis indicated that age between 40 and 60 (OR=1.333, 95%CI: 1.030‒1.724), intake of first-generation antipsychotics (OR=1.413, 95%CI: 1.112‒1.796), intake of second-generation antipsychotics (OR=1.573, 95%CI: 1.288‒1.921), high-normal blood pressure (OR=1.549, 95%CI: 1.245‒1.927), high-abnormal blood pressure (OR=2.824, 95%CI: 2.204‒3.619), elevated ALT (OR=1.874, 95%CI: 1.386‒2.535), elevated FBG (OR=1.270, 95%CI: 1.066‒1.513), and elevated TG (OR=1.652, 95%CI: 1.335‒2.044) were the related factors that associated overweight or obesity in patients with schizophrenia. ConclusionOverweight and obesity are highly prevalent among community patients with schizophrenia in Shanghai. Age between 40 and 60, taking first-generation and second-generation antipsychotics, blood pressure higher than 120/80 mmHg, elevated ALT, elevated FBG, and elevated TG are associated with overweight or obesity in patients with schizophrenia. To provide personalized health guidance, medical staff in primary health care institutions should pay more attention to high-risk groups of overweight and obesity in schizophrenia patients at annual physical examination.
5.Equity and efficiency of resource allocation for management and treatment of severe mental disorders in Shanghai in 2020
Xin FAN ; Wei-bo ZHANG ; Yi ZHU ; Yan-li SU ; Bin XIE ; Jun CAI
Journal of Public Health and Preventive Medicine 2023;34(1):20-24
Objective To analyze the equity and efficiency of resource allocation for management and treatment of severe mental disorders in Shanghai in 2020, and to provide a foundation for making relevant policies. Methods Data on resource allocation for the management and treatment of severe mental disorders in 17 district-level mental health institutions in 2020 were collected. The Gini coefficient was used to evaluate the equity of resource allocation by population and geographic area, and data envelopment analysis was carried out to analyze the equity of resource allocation. Results The Gini coefficients of special funds, psychiatric medical staff and actual open beds according to population were 0.24, 0.25 and 0.27, respectively. The Gini coefficients according to area were 0.54, 0.62 and 0.64, respectively. The average efficiency of resource allocation was 0.865. There were 5 institutions where DEA was effective, accounting for 29.41%. There were 12 institutions where DEA was non-effective, accounting for 70.59%. Conclusion The equity of resources allocation for the management and treatment of severe mental disorders according to population is good, but the equity of allocation based on geographic area is not high. The efficiency of resource allocation needs to be further improved. It is suggested that the resource allocation should be optimized to promote the fairness and efficiency of resource allocation for the management and treatment of severe mental disorders.
6.Current health service demands of new residents in shanghai
Jiahua SHI ; Mingmin HUANG ; Yongmei SUN ; Jiacheng WANG ; Jie GUO ; Yongming QI ; Qiong TANG
Shanghai Journal of Preventive Medicine 2022;34(8):806-811
ObjectiveTo understand the current situation and influencing factors of health service demands of new residents in Shanghai. MethodsFrom July to August 2020, a questionnaire survey was conducted in 1 358 new residents from 36 survey points in 7 districts of the city. The questionnaire included the basic medical insurance coverage in the inflow area, the current situation of medical demand and related influencing factors, and the demands for other health services. Results47.1%(562/1 194)of new residents did not choose to seek timely medical treatment when they were not feeling well. The main reason was that the working hours occupied the medical treatment time. Logistic regression analysis showed that the main factors affecting the medical needs in new residents were the average daily working hours, living area and type of residence, health status, physical examination and physical exercise, and the type of basic medical insurance. The demands of new residents for "health consultation of common diseases and frequently occurring diseases", "health behavior intervention (such as smoking cessation and alcohol restriction)", "medical guidance and publicity", "accidental injury prevention (traffic, work, falling, etc.)" and "maintenance of legitimate rights and interests of health" were 57.1%(682/1 194)、41.3%(493/1 194)、34.9%(417/1 194)、32.2%(385/1 194) and 31.9%(381/1 194), respectively. ConclusionNew residents demands for medical services cannot be met. We should actively improve the working and living conditions of new residents, improve the construction of new residents' health service system, and improve the utilization level of health services.
7.Modified Kaixin San improves memory and synaptic damage of mice with Alzheimer's disease by modulating αCaMKⅡ-PSD95 protein binding through inhibition of neuroinflammation:a study of mechanism.
Zhi-Yuan LU ; Chen-Yi ZHAO ; Guang YANG ; Yu-Ting TONG ; Zong-Tao BA ; Ahelijiang REAILA ; Jian-Mei YANG ; Ying XU
China Journal of Chinese Materia Medica 2022;47(22):6217-6226
To investigated the mechanisms underlying the effects of modified Kaixin San(MKXS) on improving memory and synaptic damage of Alzheimer's disease(AD) mouse model with conditional presenilin 1/2 conditional double knockout(PS cDKO). Specifically, 60 PS cDKO mice(3-3.5 months old) and their age-matched wild-type(WT) littermates were randomized into three groups: WT group(n=20), PS cDKO group(n=20), and PS cDKO+MKXS group(n=20). Mice in WT and PS cDKO groups were fed with standard chow and those in PS cDKO+MKXS group were given chow containing MKXS(at 2.55 g·kg~(-1)) for 60 days. Novel object reco-gnition task was employed to detect the recognition memory of mice, and Western blot to detect the protein levels of synapse-associated proteins in the hippocampus(HPC) of mice, such as NR1, NR2 A, NR2 B, p-αCaMKⅡ, tau, and p-tau. Microglial morphology in the HPC CA1 of mice was observed based on immunohistochemistry. Quantitative real time-PCR(qRT-PCR) was employed to detect the mRNA levels of the pro-inflammatory factors and synapse-associated proteins in the HPC of mice, including COX-2, iNOS, IL-1β, IL-6, TNF-α, PSD95, NR1, NR2 A, NR2 B, and MAP2. The protein levels of IL-1β, TNF-α, and IL-6 were tested by enzyme-linked immunosorbent assay(ELISA). The interaction between PSD95 and αCaMKⅡ and between PSD95 and p-αCaMKⅡ was tested by co-immunoprecipitation(Co-IP). The results showed that PS cDKO+MKXS demonstrated significantly higher preference index and recognition index of the new objects, lower protein level of p-tau(ser 396/404) and mRNA levels of COX-2, iNOS, TNF-α, IL-1β, and IL-6 in HPC, higher protein levels of NR1, NR2 A, NR2 B, and p-αCaMKⅡ and mRNA levels of NR1, NR2 A, NR2 B, PSD95, and MAP2, and stronger interaction of αCaMKⅡ with PSD95 and interaction of p-αCaMKⅡ with PSD95 than the PS cDKO group. Immunohistoche-mical staining showed that MKXS inhibited the activation of microglia. In conclusion, MKXS improves memory and synaptic damage in mice with AD by modulating αCaMKⅡ-PSD95 protein binding through inhibition of neuroinflammation.
Animals
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Mice
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Alzheimer Disease/genetics*
;
Disks Large Homolog 4 Protein/metabolism*
;
Neuroinflammatory Diseases
;
Tumor Necrosis Factor-alpha/metabolism*
;
Cyclooxygenase 2/metabolism*
;
Interleukin-6/metabolism*
;
Protein Binding
;
Mice, Knockout
;
Hippocampus/metabolism*
;
Disease Models, Animal
;
RNA, Messenger/metabolism*
8.Implantation Strategies of Invasive Flexible Neural Electrode
Yuxin HE ; Wenguang ZHANG ; Liyue XU ; Xuhui ZHOU
Journal of Medical Biomechanics 2021;36(1):E151-E157
Invasive neural electrodes promote human understanding of neuroscience to the micrometer and millisecond scale. Due to the large mechanical mismatch between traditional rigid electrodes and soft brain tissues, flexible electrodes have become the new trend of neural electrodes. The flexibility of the neural electrode reduces the immune response while losing the implantation stiffness. The implantation mechanism of the neural electrode was reviewed and current researches on the implantation strategies of the flexible electrodes were summarized, so as to help solve the loss of implantation ability of flexible electrode and acute implantation injury. Based on the characteristics of various implantation strategies, the prospect of flexible electrode implantation strategies was proposed.
9.Asthma treatment adherence and related factors in Shanghai, China.
Juan DU ; Yu-Heng SHI ; Yu-Xiang DUAN ; Xiao-Ru WANG ; Min ZHOU ; Wen-Chao GU ; Chi-Jun WEN ; Yi GONG ; Chun-Ling DU ; Bo PENG ; Lin SUN ; Wei TANG
Chinese Medical Journal 2021;134(20):2506-2508
10.Role of mitochondrial fusion and fission in protective effects of dexmedetomidine against cerebral ischemia/reperfusion injury in mice.
Gang LIU ; Yunzheng MEN ; Xuhui TONG ; Xueru WANG ; Miao HU ; Mujun JIANG ; Zhipeng SUN ; Shuying DONG
Journal of Southern Medical University 2020;40(4):463-468
OBJECTIVE:
To investigate the protective effects of dexmedetomidine (DEX) against cerebral ischemia/reperfusion (I/R) injury in mice and its relation with mitochondrial fusion and fission.
METHODS:
Male ICR mice were randomly divided into sham-operated group, I/R group, I/R+DEX group and I/R+DEX+dorsomorphin group. Mouse models of cerebral I/R injury were established by modified thread occlusion of the middle cerebral artery. DEX (50 μg/kg) was injected intraperitoneally at 30 min before cerebral ischemia, which lasted for 1 h followed by reperfusion for 24 h. The neurobehavioral deficits of the mice were evaluated based on Longa's scores. The volume of cerebral infarction was detected by TTC staining. The changes in mitochondrial morphology of the brain cells were observed with transmission electron microscopy. Western blotting was performed to detect the expressions of phosphorylated AMP-activated protein kinase (p-AMPK), mitochondrial fusion protein (Mfn2) and mitochondrial fission protein (p-Drp1) in the brain tissues.
RESULTS:
DEX pretreatment significantly reduced the neurobehavioral score and the percent volume of cerebral infarction in mice with cerebral I/R injury. Treatment with dorsomorphin (an AMPK inhibitor) in addition to DEX significantly increased the neurobehavioral score and the percent volume of cerebral infarction in the mouse models. Transmission electron microscopy showed that DEX obviously reduced mitochondrial damage caused by cerebral I/R injury and restored mitochondrial morphology of the brain cells, and such effects were abolished by dorsomorphin treatment. Western blotting showed that DEX pretreatment significantly increased the expressions of p-AMPK and Mfn2 protein and decreased the expression of p-Drp1 protein in the brain tissue of the mice, and these changes were also reversed by dorsomorphin treatment.
CONCLUSIONS
Preconditioning with DEX produces protective effects against cerebral I/R injury in mice possibly by activating AMPK signaling to regulate mitochondrial fusion and fission in the brain cells.
Animals
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Brain Ischemia
;
Dexmedetomidine
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Male
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Mice
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Mice, Inbred ICR
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Mitochondrial Dynamics
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Reperfusion Injury


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