Publications by authors named "Yi-min Sun"

Background: Nowadays, cognitive impairment has been characterized as one of the most vital clinical symptoms in progressive supranuclear palsy (PSP).

Objectives: Based on a relatively large cohort, we aimed to show the cognitive deterioration in different PSP subtypes during 1-year follow-up and investigate potential contributors for disease prognosis.

Methods: One hundred seventeen patients from Progressive Supranuclear Palsy Neuroimage Initiative (PSPNI) cohort underwent neuropsychological tests and 1-year follow-up, with 73 diagnosed as PSP-Richardson syndrome (PSP-RS) and 44 as PSP-non-RS.

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Background: Dementia with Lewy bodies (DLB) commonly exhibits a complex neuropathology, sharing characteristics with Alzheimer's disease (AD), including tau aggregates. However, studies using the F-AV-1451 tau tracer have shown inconsistent findings regarding both the extent and topographical distribution of tau pathology in DLB.

Objectives: Our aim was to elucidate the topographical patterns of tau deposition in DLB and to investigate the in vivo pathological distinction between DLB and AD in virtue of the F-Florzolotau positron emission tomography (PET) imaging.

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Article Synopsis
  • The study aimed to create a visual reading algorithm for tau PET imaging to improve diagnosis of progressive supranuclear palsy (PSP), addressing the lack of standardized methods specifically for PSP.
  • Involving 148 PSP patients and 30 healthy individuals, the study established and validated reading rules through assessments by multiple trained readers, focusing on specific brain regions associated with PSP.
  • Results revealed high agreement among readers in their evaluations, demonstrating that the visual reading algorithm effectively supports the accurate identification of PSP using [F]Florzolotau PET imaging.
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Single-cell RNA sequencing (scRNA-seq) has emerged as a pivotal tool for exploring cellular landscapes across diverse species and tissues. Precise annotation of cell types is essential for understanding these landscapes, relying heavily on empirical knowledge and curated cell marker databases. In this study, we introduce MarkerGeneBERT, a natural language processing (NLP) system designed to extract critical information from the literature regarding species, tissues, cell types, and cell marker genes in the context of single-cell sequencing studies.

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Background: Liver progenitor cells (LPCs) are a subpopulation of cells that contribute to liver regeneration, fibrosis and liver cancer initiation under different circumstances.

Results: By performing adenoviral-mediated transfection, CCK-8 analyses, F-actin staining, transwell analyses, luciferase reporter analyses and Western blotting, we observed that TGF-β promoted cytostasis and partial epithelial-mesenchymal transition (EMT) in LPCs. In addition, we confirmed that TGF-β activated the Smad and MAPK pathways, including the Erk, JNK and p38 MAPK signaling pathways, and revealed that TGFβ-Smad signaling induced growth inhibition and partial EMT, whereas TGFβ-MAPK signaling had the opposite effects on LPCs.

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  • Spinocerebellar ataxia 2 (SCA2) can look a lot like Parkinson's disease (PD) but has some differences.
  • The study compared symptoms and brain scans of patients with ATXN2-related parkinsonism (ATXN2-P) and another type of PD.
  • Results showed that ATXN2-P had less trembling and more balanced symptoms, with different brain scan results, which could help doctors tell them apart.
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Annotating cells in the analysis of single-cell RNA-seq (scRNA-seq) data is one of the most challenging tasks that researchers are actively addressing. Manual cell annotation is generally considered the gold standard method, although it is labor intensive and independent of prior knowledge. At present, the relationship between high-quality, known marker genes and cell types is very limited, especially for a variety of species other than humans and mice.

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  • Mutations in the LRRK2 gene are the most common genetic cause of inherited Parkinson's disease (PD), with a new variant (N1437D) identified in three Chinese families.
  • Affected family members showed typical symptoms of PD, with one developing dementia linked to abnormal tau accumulation.
  • The N1437D mutation significantly increased LRRK2 kinase activity and GTP binding, highlighting its role in PD, and further research is needed to explore its effects across diverse Asian populations.
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Article Synopsis
  • * The study included 832 patients, focusing on those with early-onset and familial late-onset PD, revealing that 30% of early-onset patients had pathogenic variants in known PD-related genes, with PRKN being the most common.
  • * For familial late-onset patients, 8.67% had pathogenic variants in PD-related genes, with heterozygous GBA variants being the most prevalent; genetic testing is crucial for accurate diagnosis in these cases.
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  • The study investigates respiratory function in patients with Parkinson's disease (PD) across various stages and its impact on daily living and quality of life.
  • Conducted at Huashan Hospital in Shanghai, it involved 65 PD patients and 20 healthy individuals, assessing ventilatory function through spirometry and motor function using the UPDRS-III scale.
  • Results showed significant respiratory decline in later stages of PD, particularly in forced vital capacity (FVC) and forced expiratory volume (FEV1), alongside notable negative correlations between respiratory measures and motor function scores, disease duration, and H&Y scale stages.
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  • Immune and inflammatory responses play a crucial role in pulmonary hypertension (PH), yet the immune system's response in patients with high-altitude pulmonary hypertension (HAPH) is not well understood.
  • * Using single-cell transcriptomics, the study identifies significant changes in monocyte populations in the blood of HAPH patients, particularly increases in non-classical (C1) and intermediate (C2) monocytes.
  • * The findings suggest that decreased levels of hypoxia-inducible transcription factor-1α (HIF-1α) in all monocyte types may be linked to the development of HAPH, highlighting a potential immune-related mechanism in this condition.*
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Unlabelled: While early-onset Parkinson's disease (EOPD) caused by mutations in the parkin gene () tends to have a relatively benign course compared to genetically undetermined (GU)-EOPD, the exact underlying mechanisms remain elusive. We aimed to search for the differences between -EOPD and GU-EOPD by dopamine transporter (DAT) and glucose metabolism positron-emission-tomography (PET) imaging. Twelve patients with -EOPD and 16 with GU-EOPD who accepted both C-2b-carbomethoxy-3b-(4-trimethylstannylphenyl) tropane (C-CFT) and F-fluorodeoxyglucose PET were enrolled.

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Background: Recent development in tau-sensitive tracers has sparkled significant interest in tracking tauopathies using positron emission tomography (PET) biomarkers. However, the ability of F-florzolotau PET imaging to topographically characterize tau pathology in corticobasal syndrome (CBS) remains unclear. Further, the question as to whether disease-level differences exist with other neurodegenerative tauopathies is still unanswered.

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Purpose: Human post mortem studies have described the topographical patterns of tau pathology in progressive supranuclear palsy (PSP). Recent advances in tau PET tracers are expected to herald the next era of PSP investigation for early detection of tau pathology in living brains. This study aimed to investigate whether F-Florzolotau PET imaging may capture the distribution patterns and regional vulnerability of tau pathology in PSP, and to devise a novel image-based staging system.

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Background: The self-reported quality of life (QoL) should be carefully listened to in progressive supranuclear palsy (PSP) from the patient-centered perspective. However, there was still a lack of short QoL measurement tool in atypical parkinsonism.

Objective: We aimed to test whether the short Parkinson's Disease Questionnaire-8 (PDQ-8) was effective in assessing QoL in PSP, comparing with Progressive Supranuclear Palsy Quality of Life Scale (PSP-QoL) and Parkinson's Disease Questionnaire-39 (PDQ-39).

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Introduction: Phospholipase A2 Group VI (PLA2G6), encoding calcium-independent phospholipase A, has been isolated as the gene responsible for an autosomal recessive form of early-onset Parkinson's disease (namely, PARK14). Compared to idiopathic Parkinson's disease (iPD), PARK14 has several atypical clinical features. PARK14 has an earlier age at onset and is more likely to develop levodopa-induced dyskinesia.

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Background: Anecdotal evidence suggests that patients diagnosed with the parkinsonian subtype of multiple system atrophy (MSA-P) may show uptake of the second-generation tau positron emission tomography (PET) tracer F-Florzolotau (previously known as F-APN-1607) in the putamen.

Objectives: This study systematically investigated the localization and magnitude of F-Florzolotau uptake in a relatively large cohort of patients with MSA-P.

Methods: F-Florzolotau PET imaging was performed in 31 patients with MSA-P, 24 patients with Parkinson's disease (PD), and 20 age-matched healthy controls.

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Background: Previous studies with a limited sample size suggested more severe dopaminergic transporter (DAT) lesions in the striatum of progressive supranuclear palsy (PSP) than those in Parkinson's disease (PD) and multiple system atrophy-parkinsonism (MSA-P). However, few studies had taken various subtypes of PSP into consideration, making the reanalysis of DAT imaging in larger PSP cohort with various subtypes in need.

Objectives: To compare the dopaminergic lesion patterns of PSP with MSA-P and PD, and to explore the specific striatal subregional patterns of different PSP subtypes.

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Background: Frontotemporal lobar degeneration with tauopathy caused by MAPT (microtubule-associated protein tau) mutations is a highly heterogenous disorder. The ability to visualize and longitudinally monitor tau deposits may be beneficial to understand disease pathophysiology and predict clinical trajectories.

Objective: The aim of this study was to investigate the cross-sectional and longitudinal F-APN-1607 positron emission tomography/computed tomography (PET/CT) imaging findings in MAPT mutation carriers.

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Article Synopsis
  • Mutations in the Presenilin-1 (PSEN1) gene are linked to very early onset Alzheimer's disease (VEOAD), affecting individuals in their 30s.
  • Two patients reported, one male (33) with a p.F177S mutation and one female (37) with a p.L381V mutation, experienced significant cognitive decline and other neurological symptoms.
  • The study enhances understanding of VEOAD genetics and broadens the ethnic diversity associated with PSEN1 mutations.
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Objective: Little is known about the disease progression of Parkinson's disease patients with subjective cognitive complaint (PD-SCC). This longitudinal cohort study aims to compare the progression of clinical features and quality of life (QoL) in PD patients with normal cognition (NC), SCC, and mild cognitive impairment (MCI).

Methods: A total of 383 PD patients were enrolled, including 189 PD-NC patients, 59 PD-SCC patients, and 135 PD-MCI patients, with 1-7 years of follow-up.

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Background: F-APN-1607 is a novel tau PET tracer characterized by high binding affinity for 3- and 4-repeat tau deposits. Whether F-APN-1607 PET imaging is clinically useful in PSP remains unclear.

Objectives: The objective of this study was to investigate the clinical utility of F-APN-1607 PET in the diagnosis, differential diagnosis, and assessment of disease severity in patients with PSP.

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Synopsis of recent research by authors named "Yi-min Sun"

  • - Yi-Min Sun's recent research encompasses a range of studies focused on neurodegenerative diseases, particularly Parkinson's Disease (PD) and related disorders, with an emphasis on diagnostic imaging methods like tau positron emission tomography (PET) to assess tau pathology in conditions such as progressive supranuclear palsy (PSP) and multiple system atrophy (MSA).
  • - The author has developed novel tools and algorithms, including a natural language processing system for extracting cell markers from literature, and a visual reading algorithm for tau PET scans, aiming to standardize assessments and enhance the understanding of disease mechanisms across various conditions.
  • - Key findings from Yi-Min Sun's work indicate the importance of genetic profiles in familial and sporadic cases of PD, revealing novel mutations and associated clinical features, as well as identifying significant correlations between respiratory and motor functions across different stages of Parkinson’s disease.