1. Relationship between platelet endothelial cell adhesion molecule 1 and leiomodin 1 gene polymorphisms and carotid plaque vulnerability
Chinese Journal of Cerebrovascular Diseases 2019;16(4):169-174
Objective To investigate the relationship between platelet endothelial cell adhesion molecule I (PEC AMI )/leiomodin 1 ( LMOD1 ) gene polymorphism loci and the risk of carotid plaque vulnerability in patients with ischemic stroke. Methods Ischemic stroke patients with carotid plaque admitted to Beijing Tiantan Hospital from May 2014 to October 2017 were enrolled prospectively. The demographic data and relevant clinical information were collected Carotid artery high-resolution magnetic resonance imaging (MRI) was used to distinguish vulnerable and stable plaques. The patients were enrolled in vulnerable plaque group and stable plaque group in turn. Real-time polymerase chain reaction was used. The TaqMan probe was use to conduct genotyping and statistical analysis of the PECAM1 ,LMOD1 gene polymorphism loci rsl 867624 and rs2820315 in the vulnerable plaque group and the stable plaque group. Binary logistic regression analysis was used to investigate the risk factors affecting the vulnerability of carotid atherosclerotic plaques. Results A total of 270 ischemic stroke patients with carotid plaque were enrolled, including 189 with vulnerable plaques and 81 with stable plaques. The polymorphism analysis of the PECAM1 gene locus rsl867624 in the two groups showed that the allele T was a vulnerable plaque risk gene,and its gene frequency in the vulnerable plaque group and the stable plaque group was 87. 3% (330/378) and 79. 6% (129/162;OR, 1.759,95% CI 1.080 -2.864 respectively,P = 0. 022). Analysis of the LM0D1 gene SNP locus rs2820315 showed that allele C was a risk gene for vulnerable plaques,and its gene frequency in the vulnerable plaque group and the stable plaque group was 87.6% (331/378) and 80.9% respectively (13I/I62;0tf, I. 667,95% CI 1. 014 -2. 738, P =0. 042). Logistic regression analysis showed that age (OR, 1.069,95% CI 1.022-1. 118, P = 0.004 ),PECAM1 gene rsl867624 locus T/T genotype (OR, 2.202,95% CI 1. 035 -4. 688 tP =0. 041) ,and LMODl gene rs2820315 locus C/C genotype ( OR,2. 199,95% CI 1. 005 -4. 809 , P =0.048) were the risk factors for the formation of vulnerable plaques. Conclusion The single nucleotide polymorphism locus rsl867624 of PECAM1 gene and single nucleotide polymorphism locus rs2820315 of LMODl gene were associated with carotid plaque vulnerability.
2.Review:thoughts and methods for the diagnosis and treatment of chronic dizziness
Journal of Apoplexy and Nervous Diseases 2023;40(11):963-966
Chronic dizziness is a common clinical symptom with a complex etiology. With the updating of concepts and technological development in the diagnosis and treatment of dizziness and vertigo,the understanding of chronic dizziness diseases is also constantly improving. Diagnostic standards for some common diseases have been published,and treatment methods supported by evidence-based medicine have been applied in clinical practice. This article takes the concept of chronic dizziness as a starting point,sorts out its underlying pathophysiological mechanisms and common causes,and attempts to establish an effective set of thoughts and methods for the diagnosis and treatment of chronic dizziness. It aims to make a preliminary exploration to improve the diagnosis and treatment level of dizziness diseases.
3.An analysis of the risk factors for cerebral small vessel disease burden in middle-aged and elderly patients with sudden sensorineural hearing loss
Journal of Apoplexy and Nervous Diseases 2023;40(11):976-982
Objective To examine the risk factors for increased burden of cerebral small vessel diseases (CSVD) in middle-aged and elderly patients with sudden sensorineural hearing loss (SSNHL). Methods The data were retrospectively collected from middle-aged and elderly patients who were admitted to the hospital due to SSNHL between May 2019 and May 2023. The patients were analyzed for their clinical manifestations,hearing test results,and radiological features. All enrolled patients were assessed for total CSVD burden,and patients with varying degrees of burdens (0,1,2,and ≥3 points) were compared for their differences in the clinical features and hearing features. Ordinal logistic regression was conducted to identify the independent risk factors for increased total CSVD burden in middle-aged and elderly patients with SSNHL. Results A total of 206 patients with SSNHL were enrolled,including 94 males and 112 females,with an average age of(58.70±7.98)years. The numbers of patients with a total CSVD burden of 0、1、2,and ≥3 points were 108(52.4%),54 (26.2%),29(14.0%),and 15 (7.2%),respectively. Univariate analysis showed significant differences between different CSVD burden groups in age,hypertension status,history of drinking,low-density lipoprotein >3.1 mmol/L,and presence of dizziness at the onset of disease(P<0.05). Logistic regression analysis demonstrated that aging (OR=1.050;95%CI 1.023-1.077),hypertension(OR=1.584;95%CI 1.036-2.422),history of drinking(OR=2.304;95%CI 1.415-3.754),and presence of dizziness at the onset of disease(OR=1.691;95%CI 1.085-2.637)were independent risk factors for increased CSVD burden in SSNHL patients aged 45 years and above. Conclusion Aging,hypertension,history of drinking,and dizziness at the onset of disease are independent risk factors for increased CSVD burden in middle-aged and elderly patients with SSNHL. Clinicians should conduct radiological evaluations on these patients to identify patients with CSVD at an early stage.
4.Validity of Functional Gait Assessment in Patients with Parkinson's Disease
Yaqin YANG ; Yanan ZHOU ; Yongjun WANG ; Tao FENG
Chinese Journal of Rehabilitation Theory and Practice 2018;24(11):1329-1332
Objective To investigate the construct and concurrent validity of the Functional Gait Assessment (FGA) as the measure for balance and gait during walking in Parkinson's disease patients. Methods From March to December, 2011, 121 patients with Parkinson's disease (mean aged 61.9 years) were evaluated with FGA by one rater, as well as the other scales for balance and gait, such as Berg Balance Scale, Functional Ambulation Category, Timed Up and Go Test, Activities-specific Balance Confidence Scale, Movement Disorders Society revision of the Unified Parkinson's Disease Rating Scale part 3, modified Barthel Index, maximum walking speed and Modified Hoehn and Yahr Scale. Principal Component Analysis was used to determine construct validity. Spearman correlation coefficients between the FGA and other measures were used to determine concurrent validity. Results One common factor was extracted, which cumulatively explained 64.0% of the total variance. The FGA correlated moderately with the other measures (r = 0.57-0.85). Conclusion FGA is good in validity for Parkinson's disease patients.
5.Minimum dataset standard for cohort study of high-risk population of stroke based on regional big data platform: a consensus
National Center for Chronic, Non-communicable Disease Control, Prevention, Chinese Center for Disease Control, Prevention ; China National Clinical Research Center for Neurological Diseases ; National Center for Healthcare Quality Management in Neurological Diseases ; Cerebrovascular Disease Big Data, Information Standardization Branch of Chinese Stroke Association
Journal of Preventive Medicine 2021;33(12):1189-1198
A large cohort study of high-risk population of stroke based on the real world is of great significance for stroke prevention and control. However, the data element structures, variable definitions and scopes of regional big data platforms are inconsistent, which will be an obstacle for data sharing, summary, and analysis among different regions. In this study, we formed an expert consensus on a unified minimum dataset standard for the cohort study of high-risk population of stroke, considering the categories and definitions of risk factors of stroke, and the existing database of the regional big data platforms. The consensus shall provide a reference for the comparison, integration, and sharing of real world data within and between regions, and play an important role in the cohort study on risk factors of stroke, as well as the implementation and evaluation of prevention and control measures.
8.Pathological Consequences of Altered Palmitoylation in Neurodegenerative Disorders and Its Potential as a Therapeutic Target
Wen-Ying LIU ; Shu-Heng WANG ; Jian-Ping JIA
Progress in Biochemistry and Biophysics 2024;51(10):2340-2356
Protein palmitoylation, a prevalent and dynamic form of S-acylation modification, plays a critical role in maintaining the functionality of the nervous system. This reversible process involves the attachment of palmitic acid to cysteine residues in proteins, anchoring them to cellular membranes and regulating their spatial distribution. The functioning of palmitoylation is crucial for normal neuronal activities, influencing key processes such as signal transduction, synaptic function, and protein trafficking. Recent research has increasingly underscored the significance of specific zinc finger Asp-His-His-Cys motif-containing (ZDHHC) S-acyltransferases in neuronal development and synaptic plasticity. These enzymes, which catalyze the palmitoylation of proteins, have emerged as pivotal regulators of brain function. Dysregulation of palmitoylation by these enzymes is now recognized as a potential contributor to the pathogenesis of various neurodegenerative diseases. This review provides an in-depth analysis of the expression patterns and functional diversity of ZDHHC enzymes across different brain regions and cell types. ZDHHC enzymes exhibit significant sequence variability and demonstrate region-specific and cell type-dependent expression. Such heterogeneity suggests that these enzymes may have specialized roles in different areas of the nervous system, making them crucial modulators of neuronal function and synaptic transmission. The review also explores the regulatory mechanisms of protein palmitoylation and their implications in neurodegenerative disease onset and progression. Altered palmitoylation can lead to the destabilization and subsequent aggregation of these proteins, exacerbating neurodegenerative processes. Abnormal palmitoylation of α‑synuclein can either promote or inhibit its aggregation in Parkinson’s disease pathology. Proteins related to these key pathological factors, including amyloid precursor protein (APP) and beta-secretase 1 (BACE1), are also influenced by palmitoylation, contributing to the formation of amyloid plaques through the aggregation of Aβ. Additionally, ZDHHC13 and ZDHHC17, which are abundantly and widely expressed in the brain, play crucial roles in this process. For instance, reduced interaction between ZDHHC17 and huntingtin could significantly contribute to the pathogenesis of Huntington’s disease. Thus, modulating the palmitoylation status of these proteins presents a promising therapeutic strategy to prevent their toxic aggregation and mitigate neuronal damage. Actually, regulating palmitoylation has shown potential for therapeutic interventions in neurodegenerative diseases, with studies demonstrating that modulation of palmitoylation can restore neuronal function and improve disease symptoms. Regulating palmitoylation holds significant promise for therapeutic strategies in neurodegenerative diseases, as modulation of this process can restore neuronal function and ameliorate disease symptoms. However, progress is hindered by the lack of high-resolution structural data and comprehensive targeting maps for specific ZDHHC enzymes. Additionally, current detection methods for palmitoylation, which focus on labeling and analyzing palmitic acid and cysteine residues, are often complex and time-consuming, and may produce inconsistent palmitoyl-proteomic profiles. These methodological challenges underscore the need for more robust and efficient detection technologies. A deeper understanding of palmitoylation’s role in neurological diseases, coupled with the development of improved detection methods, is essential for advancing our knowledge of the molecular underpinnings of these conditions and for the creation of innovative therapeutic strategies aimed at combating neurodegenerative diseases.
9.Disorders of Consciousness in China.
Neuroscience Bulletin 2018;34(4):605-614
With the development of modern international medicine, the subject of disorders of consciousness (DOCs) has begun to be raised in mainland China. Much progress has been made to date in several specialties related to the management of chronic DOC patients in China. In this article, we briefly review the present status of DOC studies in China, specifically concerning diagnosis, prognosis, therapy, and rehabilitation. The development of DOC-related scientific organizations and activities in China are introduced. Some weaknesses that need improvement are also noted. The current program provides a good foundation for future development.
China
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Consciousness Disorders
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diagnosis
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therapy
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Humans
10.Heterogeneity of Monosymptomatic Resting Tremor in a Prospective Study: Clinical Features, Electrophysiological Test, and Dopamine Transporter Positron Emission Tomography.
Hua-Guang ZHENG ; Rong ZHANG ; Xin LI ; Fang-Fei LI ; Ya-Chen WANG ; Xue-Mei WANG ; Ling-Long LU ; Tao FENG ;
Chinese Medical Journal 2015;128(13):1765-1771
BACKGROUNDThe relationship between monosymptomatic resting tremor (mRT) and Parkinson's disease (PD) remains controversial. In this study, we aimed to assess the function of presynaptic dopaminergic neurons in patients with mRT by dopamine transporter positron emission tomography (DAT-PET) and to evaluate the utility of clinical features or electrophysiological studies in differential diagnosis.
METHODSThirty-three consecutive patients with mRT were enrolled prospectively. The Unified Parkinson's Disease Rating Scale and electromyography were tested before DAT-PET. Striatal asymmetry index (SAI) was calculated, and a normal DAT-PET was defined as a SAI of <15%. Scans without evidence of dopaminergic deficits (SWEDDs) were diagnosed in patients with a subsequent normal DAT-PET and structural magnetic resonance imaging.
RESULTSTwenty-eight mRT patients with a significant reduction in uptake of DAT binding in the striatum were diagnosed with PD, while the remained 5 with a normal DAT-PET scan were SWEDDs. As for UPRDS, the dressing and hygiene score, walking in motor experiences of daily living (Part II) and motor examination (Part III) were significant different between two groups (P < 0.05 and P < 0.01, respectively). Bilateral tremor was more frequent in the SWEDDs group (P < 0.05). The frequency of resting tremor and the amplitude of postural tremor tend to be higher in the SWEDDs group (P = 0.08 and P = 0.05, respectively).
CONCLUSIONSmRT is heterogeneous in presynaptic nigrostriatal dopaminergic degeneration, which can be determined by DAT-PET brain imaging. Clinical and electrophysiological features may provide clues to distinguish PD from SWEDDs.
Adult ; Aged ; Dopamine Plasma Membrane Transport Proteins ; Female ; Humans ; Male ; Middle Aged ; Parkinson Disease ; diagnosis ; Positron-Emission Tomography ; methods ; Prospective Studies ; Tremor ; diagnosis