- Neuroinflammation and Neurodegeneration Mechanisms
- Neuroscience and Neuropharmacology Research
- Genetic Neurodegenerative Diseases
- Acute Ischemic Stroke Management
- Magnetic and transport properties of perovskites and related materials
- Cerebrovascular and Carotid Artery Diseases
- Amyotrophic Lateral Sclerosis Research
- Sirtuins and Resveratrol in Medicine
- Cerebrovascular and genetic disorders
- Neurological diseases and metabolism
- Electronic and Structural Properties of Oxides
- Advancements in Solid Oxide Fuel Cells
- Neurogenesis and neuroplasticity mechanisms
- MicroRNA in disease regulation
- Extracellular vesicles in disease
- Pediatric Hepatobiliary Diseases and Treatments
- Genetics, Aging, and Longevity in Model Organisms
- Advanced MRI Techniques and Applications
- Advanced Computational Techniques and Applications
- Lymphatic System and Diseases
- Renal Diseases and Glomerulopathies
- Hereditary Neurological Disorders
- Biochemical effects in animals
- Prion Diseases and Protein Misfolding
- Cardiovascular Health and Disease Prevention
Radboud University Medical Center
2022-2024
Radboud University Nijmegen
2022-2024
Guangdong Academy of Medical Sciences
2024
Xiangya Hospital Central South University
2008-2024
Central South University
2008-2024
Southern Medical University
2024
Guangdong Provincial People's Hospital
2024
Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative characterized by eosinophilic inclusions in the nervous system and multiple visceral organs. The clinical manifestation of NIID varies widely, both familial sporadic cases have been reported. Here we performed genetic linkage analysis mapped locus to 1p13.3-q23.1; however, whole-exome sequencing revealed no potential disease-causing mutations. We then long-read genome identified large GGC repeat...
Abnormal expanded GGC repeats within the NOTCH2HLC gene has been confirmed as genetic mechanism for most Asian patients with neuronal intranuclear inclusion disease (NIID). This cross-sectional observational study aimed to characterise clinical features of NOTCH2NLC-related NIID in China.Patients underwent an evaluation symptoms, a neuropsychological assessment, electrophysiological examination, MRI and skin biopsy.In 247 NIID, 149 cases were sporadic, while 98 had positive family history....
Ischemic stroke (IS) is a dangerous cerebrovascular disorder with significant incidence and death rate. Ubiquitin-specific peptidase 18 (USP18) has been proven to mitigate ischemic brain damage; however, its potential regulatory mechanisms remain unclear. In vivo in vitro models of IS were established by middle cerebral artery occlusion (MCAO) oxygen-glucose deprivation/reoxygenation (OGD/R). Neurocyte injury was detected MTT, LDH, ROS level, mitochondrial membrane (Δψm), flow cytometry....
Abstract Energy restriction (ER) protects against cerebral ischemic injury, but the underlying mechanism remains largely unclear. Here, rats were fed ad libitum (AL) or on an alternate-day food deprivation intermittent fasting (IF) diet for 3 months, followed by middle artery occlusion (MCAO) surgery. The body weight, infarct volume, and neurological deficit score accessed at designated time points. ELISA, qRT-PCR, Western blotting used to determine cytokine secretion expression of SIRT6,...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Archetypal disease-causing are cysteine-affecting variants within 34 epidermal growth factor-like repeat (EGFr) region of Notch3 extracellular subunit. Cysteine-sparing outside EGFr coding associated CADASIL phenotype have been reported. However, linkage between untypical unclear. In this study, we investigated...
Abstract Introduction Sleep apnea is common in Parkinson’s disease (PD), but its role incident PD remains unclear. Preclinical studies suggest intermittent mild hypoxia may have neuroprotective effects, whereas severe could exacerbate neurodegeneration. Rapid Eye Movement (REM) and non-REM (NREM) sleep distinct effects on risk or be influenced by pathophysiology differently. This study examines the associations between overall, REM, NREM risk. Methods retrospective cohort included...
Information on whether small vessel disease (SVD) reduces life expectancy is limited. Moreover, the excess mortality risk attributed specifically to SVD compared with controls from general population has not been evaluated. This study aimed investigate baseline and progression of MRI markers associated in a 16-year follow-up cohort determine long-term patients SVD.
In this study, we performed immunohistochemistry for somatostatin (SS), neuropeptide Y (NPY), and parvalbumin (PV) in LiCl–pilocarpine-treated rats to observe quantitative changes axonal sprouting of GABAergic interneurons the hippocampus, especially sclerotic hippocampus. Fluoro-Jade B (FJB) was detect specific degeneration interneurons. Compared with age-matched control rats, there were fewer SS/NPY/PV-immunoreactive (IR) hilus hippocampus pilocarpine-treated rats; hilar dentritic...
Bone mesenchymal stem cell (BMSC)-derived exosome (BMSC-Exo) could be a treatment method for ischemic injury. In cerebrovascular disease (IC), microglia is pivotal in neuronal damage and remodeling. This study explores the mechanisms of BMSC-Exo miR-148b-3p regulating oxygen-glucose deprivation/reoxygenation (OGD/R)-induced human microglial clone 3 (HMC3) activation. Transmission electron microscopy (TEM) qNano were used to assess features. The functions miR-148 b-3p OGD/R-induced HMC3...
Background: Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease characterized clinically by severe sleep disorder, motor signs, dysautonomia and abnormal behaviour. FFI caused missense mutation at codon 178 of the protein gene (PRNP). Our study aimed to explore typical clinical genetic features two Chinese pedigrees with review related literatures.Methods: Two cases family histories were recruited in our study. The main features, possible pathophysiologic...
Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disorder mainly caused by abnormally expanded GGC repeats within the NOTCH2NLC gene. Most patients with NIID show polyneuropathy. Here, we aim to investigate diagnostic electrophysiological markers of NIID.
Abstract INTRODUCTION Oculomotor and gait dysfunctions are closely associated with cognition. However, oculo‐gait patterns their correlation cognition in cerebral small vessel disease (CSVD) remain unclear. METHODS Patients CSVD from a hospital‐based cohort ( n = 194) individuals presumed early community‐based 319) were included. Oculo‐gait measured using the artificial intelligence (AI) –assisted ‘EyeKnow’ eye‐tracking ‘ReadyGo’ motor evaluation systems. Multivariable linear logistic...
Marchiafava-Bignami disease (MBD) is a rare condition characterized by demyelination, necrosis and atrophy of the corpus callosum (CC), mainly associated with alcoholism. MBD may present various clinical manifestations. Brain magnetic resonance imaging (MRI) scan important in prompt diagnosis treatment MBD. Here we reported case reviewed literature about usage gadolinium-enhanced MRI Gadolinium enhancement indicate at risk developing necrosis. We therefore recommend contrast-enhanced study...
The underlying mechanisms of incident lacunes regarding their spatial distribution remain largely unknown. We investigated the pattern and MRI predictors in relation to white matter hyperintensity (WMH) over 14 years follow-up sporadic small vessel disease.Five hundred three participants from ongoing prospective single-center Radboud University Nijmegen Diffusion Tensor Magnetic resonance Cohort (RUN DMC) were recruited with baseline assessment 2006 follow ups 2011, 2015, 2020. Three...
Objective To study the clinical value and safety of endoscopic retrograde cholangiopancreatography(ERCP) for chronic pancreatitis in pediatric population. Methods Clinical data, reports, radiography pancreatic patients aged from 2 to 17 years old who underwent ERCP between Jan. 1, 2008 Apr. 30, 2014 at Endoscopy Center Ruijin Hospital were reviewed. These divided into 3 groups, 6 as children group(n=27), 7 12 juvenile group(n=35) 13 adolescent group(n=25). Their data complications...