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144 result(s) for "Shang, Hui-fang"
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Parkinson's disease in the Western Pacific Region
1·8 billion people of diverse ethnicities and cultures live in the Western Pacific Region. The increasing longevity of populations in this region is a major contributor to the exponential increase in Parkinson's disease prevalence worldwide. Differences exist between Parkinson's disease in the Western Pacific Region and in Europe and North America that might provide important insights into our understanding of the disease and approaches to management. For example, some genetic factors (such as LRRK2 mutations or variants) differ, environmental exposures might play differential roles in modulating the risk of Parkinson's disease, and fewer dyskinesias are reported, with some differences in the profile of non-motor symptoms and comorbidities. Gaps in awareness of the disease and inequitable access to treatments pose challenges. Further improvements in infrastructure, clinical governance, and services, and concerted collaborative efforts in training and research, including greater representation of the Western Pacific Region in clinical trials, will improve care of patients with Parkinson's disease in this region and beyond.
Single-cell RNA sequencing reveals B cell–related molecular biomarkers for Alzheimer’s disease
In recent years, biomarkers have been integrated into the diagnostic process and have become increasingly indispensable for obtaining knowledge of the neurodegenerative processes in Alzheimer’s disease (AD). Peripheral blood mononuclear cells (PBMCs) in human blood have been reported to participate in a variety of neurodegenerative activities. Here, a single-cell RNA sequencing analysis of PBMCs from 4 AD patients (2 in the early stage, 2 in the late stage) and 2 normal controls was performed to explore the differential cell subpopulations in PBMCs of AD patients. A significant decrease in B cells was detected in the blood of AD patients. Furthermore, we further examined PBMCs from 43 AD patients and 41 normal subjects by fluorescence activated cell sorting (FACS), and combined with correlation analysis, we found that the reduction in B cells was closely correlated with the patients’ Clinical Dementia Rating (CDR) scores. To confirm the role of B cells in AD progression, functional experiments were performed in early-stage AD mice in which fibrous plaques were beginning to appear; the results demonstrated that B cell depletion in the early stage of AD markedly accelerated and aggravated cognitive dysfunction and augmented the Aβ burden in AD mice. Importantly, the experiments revealed 18 genes that were specifically upregulated and 7 genes that were specifically downregulated in B cells as the disease progressed, and several of these genes exhibited close correlation with AD. These findings identified possible B cell-based AD severity, which are anticipated to be conducive to the clinical identification of AD progression. Alzheimer’s disease: A new biomarker for disease progression? Molecular tests built around analyzing B cells, a specialized type of immune cell, could aid in the diagnosis of Alzheimer’s disease. Liu-Lin Xiong from the Affiliated Hospital of Zunyi Medical University, China, and coworkers used single-cell RNA sequencing to profile gene activity in individual peripheral blood mononuclear cells from people with and without Alzheimer’s disease. They discovered that people with Alzheimer’s, especially those with more advanced disease, had lower levels of circulating B cells than healthy subjects. Twenty-five specific genes in the B cells were expressed at significantly higher or lower levels as the disease progressed. The researchers found similar results regarding B cells and Alzheimer’s progression in mouse models, and showed that massive depletion of B cells in the early onset was associated with accelerated cognitive decline and increased accumulation of sticky brain plaques.
Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis
Background The time of survival in patients with amyotrophic lateral sclerosis (ALS) varies greatly, and the genetic factors that contribute to the survival of ALS are not well studied. There is a lack of a comprehensive study to elucidate the role of genetic factors in the survival of ALS. Methods The published studies were systematically searched and obtained from PubMed, EMBASE, and the Cochrane Library without any language restrictions from inception to Oct 27, 2021. A network meta-analysis for ALS causative/risk genes and a systematic review and pairwise meta-analysis for other genetic modifiers were conducted. The PROSPERO registration number: CRD42022311646. Results A total of 29,764 potentially relevant references were identified, and 71 papers were eligible for analysis based on pre-decided criteria, including 35 articles in network meta-analysis for 9 ALS causative/risk genes, 17 articles in pairwise meta-analysis for four genetic modifiers, and 19 articles described in the systematic review. Variants in three genes, including ATXN2 (HR: 3.6), C9orf72 (HR: 1.6), and FUS (HR:1.8), were associated with short survival of ALS, but such association was not identified in SOD1 , TARDBP , TBK1 , NEK1 , UBQLN2 , and CCNF . In addition, UNC13A rs12608932 CC genotype and ZNF521B rs2275294 C allele also caused a shorter survival of ALS; however, APOE ε4 allele and KIFAP3 rs1541160 did not be found to have any effect on the survival of ALS. Conclusions Our study summarized and contrasted evidence for prognostic genetic factors in ALS and would help to understand ALS pathogenesis and guide clinical trials and drug development.
An exploration of asynchronous and synchronous feedback modes in EFL writing
In the English as a foreign language (EFL) writing context, most of the research studies on the feedback process are conducted in a face-to-face context and few research studies have been conducted to investigate what actually happens in online feedback conditions. Thus, this study aimed to compare 44 EFL university students’ experience of employing asynchronous peer feedback (APF) and synchronous corrective feedback (SCF) and whether the utilization of these two modes affected EFL students’ writing on the aspect of syntactic complexity. The major findings suggested that most participants accepted this e-learning revision approach and received satisfactory results via using APF and SCF modes. The feedback that occurred in APF was potentially more usable than that in SCF in writing more sentences. It is assumed that as students added more words, they increased their writing scores after using APF. Although learners generally accepted both online feedback modes, the interview results revealed some of the reasons for learners’ preference for the APF over the SCF mode. Finally, the implications of these findings for future research are discussed and presented.
Nonmotor symptoms in primary adult‐onset cervical dystonia and blepharospasm
Background The nature and frequency of nonmotor symptoms in primary adult‐onset cervical dystonia (CD) and blepharospasm (BSP) patients in Chinese populations remain unknown. Methods Hamilton's Depression Scale (HAMD), Hamilton's Anxiety Scale (HAMA), Addenbrooke's Cognitive Examination Revised (ACE‐R), Pittsburgh Sleep Quality Index and Epworth Sleepiness Scale were used to evaluate NMS in 120 patients with primary focal adult‐onset dystonia (60 with BSP and 60 with CD) and 60 age‐, sex‐, and education level‐ matched healthy controls (HCs). Motor symptoms of BSP and CD patients were evaluated by Jankovic rating scale and Toronto Western Spasmodic Torticollis Rating Scale‐severity scale separately. Results Twenty patients had depression, and 29 patients had anxiety. The mean HAMD and HAMA scores were significantly higher in patient groups. Thirty‐six patients had cognitive decline based on the cut‐off score of 75. The total score and scores of each domain of ACE‐R were significantly lower in patient groups than that in HCs. Quality of sleep was impaired in patient groups, and patients with CD had worse quality of sleep than patients with BSP. Thirty‐three BSP patients and 43 CD patients suffered from sleep disorder separately. The frequency of excessive daytime sleepiness did not differ between patients and HCs. No significant correlation was found between NMS and motor severity in the two forms of dystonia. Conclusions Current study suggests that NMS are prevalent in Chinese CD and BSP patients, and the motor severity of dystonia did not contribute to the severity of nonmotor symptoms. Assessment of nonmotor symptoms should be considered in clinical management of focal dystonia Patients with dystonia may develop several nonmotor symptoms (NMS). NMS were evaluated in 120 patients with cervical dystonia and blepharospasm. We found depression, anxiety, sleep disorder and cognitive decline are common in these patients, and the severity of motor symptom did not contribute to the severity of NMS in craniocervical dystonia.
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population
BackgroundA large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers.MethodsA total of 1587 patients, including 64 familial ALS (FALS) and 1523 sporadic ALS (SALS), and 1866 in-house controls were analysed by whole-exome sequencing and/or testing for G4C2 repeats in C9orf72. Forty-one ALS-associated genes were analysed.Findings155 patients, including 26 (40.6%) FALS and 129 (8.5%) SALS, carrying rare pathogenic/likely pathogenic (P/LP) variants of ALS causative genes were identified. SOD1 was the most common mutated gene, followed by C9orf72, FUS, NEK1, TARDBP and TBK1. By burden analysis, rare variants in SOD1, FUS and TARDBP contributed to the collective risk for ALS (p<2.5e-6) at the gene level, but at the allelic level TARDBP p.Gly294Val and FUS p.Arg521Cys and p.Arg521His were the most important single variants causing ALS. Clinically, P/LP variants in TARDBP and C9orf72 were associated with poor prognosis, in FUS linked with younger age of onset, and C9orf72 repeats tended to affect cognition.ConclusionsOur data provide essential information for understanding the genetic and clinical features of ALS in China and for optimal design of genetic testing and evaluation of disease prognosis.
Screening for Cognitive Impairments in Primary Blepharospasm
Studies have reported that non-motor symptoms are an important component of primary dystonia. However, evidence supporting cognitive impairment in primary dystonia is limited and contradictory. We applied the Chinese version of the Addenbrooke's Cognitive Examination-Revised and the Mini-Mental State Examination (MMSE) to screen for cognitive impairment in patients with primary blepharospasm. In addition, we investigated the relationship between performance on the Addenbrooke's Cognitive Examination-Revised and quality of life as measured by the Medical Outcomes Study 36-item Short-Form (SF36). The study included 68 primary blepharospasm patients and 68 controls matched by age, sex and education. The prevalence of cognitive deficits was 22.0% and 32.3% in primary blepharospasm patients group, as measured by the MMSE and the Addenbrooke's Cognitive Examination-Revised, respectively. Primary blepharospasm patents had a broad range of cognitive deficits, with the most frequently affected domains being visuospatial function (30.9%) and language (30.9%), followed by memory (27.9%), orientation/attention (26.4%) and verbal fluency (22.0%). Patients with cognitive deficits had lower total SF36 scores, especially in the subdomains of physical functioning, role-physical and social functioning, compared to those without cognitive deficits. Scores on the Addenbrooke's Cognitive Examination-Revised were significantly correlated with both the SF36 scores and the scores on the subdomains of physical functioning and social functioning. Some patients with primary blepharospasm have cognitive deficits. Poor performance on the Addenbrooke's Cognitive Examination-Revised is related to poorer quality of life.
An investigation of plagiarism software use and awareness training on English as a foreign language (EFL) students
Plagiarism is often considered as cheating, dishonesty, copying, or moral failing in writing because it is the act of stealing others’ language and ideas without proper citation or paraphrasing. However, this idea is not universally shared because people from different cultural backgrounds are likely to conceptualize plagiarism differently. To fill the gap in teachers’ perceptions and investigate students’ actual plagiaristic behavior, this study aims to detect the extent of plagiarism in students’ English summary writing by adopting plagiarism-detection software, Turnitin. The present study draws on both quantitative and qualitative data to investigate whether discrepancy exists between students’ perceptions of plagiarism and their actual plagiaristic behavior, and whether student behavior changes after their awareness training on plagiarism. The results of this study show that student plagiaristic behavior has changed and the awareness of adoption of plagiarism-detection software significantly has reduced the instances of textual plagiarism. It is thus noted that students who were aware that a plagiarism detection system was in use had lower percentages of plagiarism. However, no obvious relationship is observed between plagiarism awareness and the students’ actual plagiaristic behavior. The implications of these findings on pedagogical practice and future research are discussed and presented.
The Global Cognition, Frontal Lobe Dysfunction and Behavior Changes in Chinese Patients with Multiple System Atrophy
Studies on cognition in multiple system atrophy (MSA) patients are limited. A total of 110 MSA patients were evaluated using Addenbrooke's Cognitive Examination-Revised (ACE-R), Frontal Assessment Battery (FAB), Frontal Behavioral Inventory (FBI), and Unified MSA Rating Scale (UMSARS) tests. Fifty-five age-, sex-, education- and domicile-matched healthy controls were recruited to perform the FAB and ACE-R scales. Approximately 32.7% of the patients had global cognitive deficits with the most impaired domain being verbal fluency and visuospatial ability (26.4%), followed by memory (24.5%), language (20%) and orientation/attention (20%) based on a cut-off score of ACE-R ≤ 70. A total of 41.6% of the patients had frontal lobe dysfunction, with inhibitory control (60.9%) as the most impaired domain based on a cut-off score of FAB ≤14. Most patients (57.2%) showed moderate frontal behavior changes (FBI score 4-15), with incontinence (64.5%) as the most impaired domain. The binary logistic regression model revealed that an education level < 9 years (OR:13.312, 95% CI:2.931-60.469, P = 0.001) and UMSARS ≥ 40 (OR: 2.444, 95%CI: 1.002-5.962, P< 0.049) were potential determinants of abnormal ACE-R, while MSA-C (OR: 4.326, 95%CI: 1.631-11.477, P = 0.003), an education level < 9 years (OR:2.809 95% CI:1.060-7.444, P = 0.038) and UMSARS ≥ 40 (OR:5.396, 95%CI: 2.103-13.846, P < 0.0001) were potential determinants of abnormal FAB. Cognitive impairment is common in Chinese MSA patients. MSA-C patients with low education levels and severe motor symptoms are likely to experience frontal lobe dysfunction, while MSA patients with low education levels and severe motor symptoms are likely to experience global cognitive deficits. These findings strongly suggest that cognitive impairment should not be an exclusion criterion for the diagnosis of MSA.