Risk factor differences in five-year progression of Intracranial artery stenosis and cerebral small vessel disease in general population.

Background: Intracranial artery stenosis (ICAS) and cerebral small vessel disease (CSVD) are associated with a heavy socioeconomic burden; however, their longitudinal changes remain controversial.

Methods: We conducted a longitudinal analysis on 756 participants of Shunyi Cohort who underwent both baseline and follow-up brain magnetic resonance imaging (MRI) and MR angiography in order to investigate the risk factors for ICAS and CSVD progression in community population. Incident ICAS was defined as new stenosis occurring in at least one artery or increased severity of the original artery stenosis.

Correlation between Circle of Willis configuration and intracranial arterial dolichoectasia, and genetic contributions.

Objectives: Intracranial arterial dolichoectasia (IADE) is characterized by the dilation, elongation, and tortuosity of intracranial arteries. We aimed to investigate the association between variations of the Circle of Willis (COW) and IADE in the general population, as well as estimate the genetic correlation between COW variations and IADE.

Methods: A total of 981 individuals from a population-based cohort were included.

Automated diffusion-weighted image analysis along the perivascular space index reveals glymphatic dysfunction in association with brain parenchymal lesions.

Brain glymphatic dysfunction is critical in neurodegenerative processes. While animal studies have provided substantial insights, understandings in humans remains limited. Recent attention has focused on the non-invasive evaluation of brain glymphatic function.

Dynamic Mechanism of Cerebral Venous Disruption: Longitudinal Evidence From a Community-Based Cohort.

Background: This study aims to investigate the temporal and spatial patterns of structural brain injury related to deep medullary veins (DMVs) damage.

Methods And Results: This is a longitudinal analysis of the population-based Shunyi cohort study. Baseline DMVs numbers were identified on susceptibility-weighted imaging.

Association of Rare Variants With Prevalent and Incident Stroke and Dementia in the General Population.

Background: It is uncertain whether rare variants are associated with stroke and dementia in the general population and whether they lead to alterations in cognitive function. This study aims to determine the associations of rare variants with prevalent and incident stroke and dementia, as well as cognitive function changes.

Methods And Results: In the prospective community-based Shunyi Study, a total of 1007 participants were included in the baseline analysis.

Differentiation Between Amyotrophic Lateral Sclerosis and Mimics Using Quantitative Analysis of Fsciculation with Muscle Ultrasound.

Objective To determine the diagnostic accuracy of the intensity of fasciculation evaluated by muscle ultrasound in the differential diagnosis of amyotrophic lateral sclerosis (ALS). Methods We prospectively recruited patients who had ALS and neuropathy-radiculopathy attending Peking Union Medical College Hospital from 2017 to 2020. Healthy adults from a community were recruited as healthy controls.

Pattern of Brain Parenchymal Damage Related to Cerebral Small Vessel Disease in Carriers of Rare Variants.

Background And Objectives: Previous studies reported that carriers of rare variants comprised more than 10% of the general population and are susceptible to a heavy overall burden of cerebral small vessel disease while the injury patterns remain uncovered. This study aimed to investigate the imaging features in relation to rare variants and the interaction between cortical atrophy and white matter lesions from a longitudinal view, with respect to spatial and dynamic patterns.

Methods: As part of a community-based cohort, we included participants with complete whole-exome sequencing and brain MRI in the baseline analysis.

Comparison of neurofilament light and heavy chain in spinal muscular atrophy and amyotrophic lateral sclerosis: A pilot study.

Background: Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) were two major motor neuron diseases with similar symptoms and poor outcomes. This study aimed to identify potential biomarkers in disease monitoring and differential diagnosis of adult SMA patients with sporadic ALS patients.

Methods: This was a pilot study with ten adult SMA patients and ten ALS patients consecutively enrolled during hospitalization.

White matter and gray matter changes related to cognition in community populations.

Objective: Further studies are needed to improve the understanding of the pathological process underlying cognitive impairments. The purpose of this study is to investigate the global and topographic changes of white matter integrity and cortical structure related to cognitive impairments in a community-based population.

Methods: A cross-sectional analysis was performed based on 995 subjects (aged 56.

Aquaporin-4 Antibody Dynamics and Relapse Risk in Seropositive Neuromyelitis Optica Spectrum Disorder Treated with Immunosuppressants.

Objective: To investigate aquaporin-4 antibody (AQP4-IgG) dynamics and relapse risk in patients with seropositive neuromyelitis optica spectrum disorder treated with immunosuppressants.

Methods: This observational cohort study with prospectively collected data included 400 neuromyelitis optica spectrum disorder patients seropositive for AQP4-IgG and treated with immunosuppressants. Serum AQP4-IgG was detected by fixed cell-based assay every 6 months.

Intraoperative Low-Dose S-Ketamine Reduces Depressive Symptoms in Patients with Crohn's Disease Undergoing Bowel Resection: A Randomized Controlled Trial.

Patients with Crohn's disease (CD) undergoing bowel resection often suffer from depression and acute pain, which severely impairs their recovery. We aimed to investigate the effects of S-ketamine preconditioning on postoperative depression in patients with CD undergoing a bowel resection with mild to moderate depression and to observe whether it can relieve postoperative pain and anti-inflammation. A total of 124 adult patients were randomized into one of the two groups.

The effect of episodic foresight on intertemporal decision-making: the role of future self-continuity and perceived control.

To investigate the mechanism of episodic foresight of different valences on intertemporal decision-making, this study examined the mediating role of future self-continuity in the influence of episodic foresight on intertemporal decision-making and the moderating role of perceived control in two experiments. The results found that (1) future self-continuity mediated the effect of episodic foresight on individuals' intertemporal decision-making; and (2) perceived control moderated the indirect effect of episodic foresight on intertemporal decision-making through future self-continuity. Under low perceived control, individuals with positive episodic foresight had stronger future self-continuity and preferred future options, while individuals with negative episodic foresight had lower future self-continuity.

Association between Anatomical Variations of the Circle of Willis and Covert Vascular Brain Injury in the General Population.

Background And Purpose: The circle of Willis (COW) is a circulatory anastomosis located at the base of the brain. Little is known about the association between covert vascular brain injury and COW configurations in the general population. We explored this relationship in a community-based Chinese sample.

Recurrent headache and visual symptoms in a young man: a rare neuronal intranuclear inclusion disease case report.

Background: Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease. Patients with NIID may present with heterogeneous clinical symptoms, including episodic encephalopathy, dementia, limb weakness, cerebellar ataxia, and autonomic dysfunction. Among the NIID cases reported in China, patients often have complicated and severe manifestations.

Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline.

Pathogenic large inversions are rarely reported on DMD gene due to the lack of effective detection methods. Here we report two DMD pedigrees and proposed a reliable pipeline to define large inversions in DMD patients. In the first pedigree, conventional approaches including multiplex ligation-dependent probe amplification, and whole-exome sequencing by next generation sequencing were failed to detect any pathologic variant.

Correlation of weight and body composition with disease progression rate in patients with amyotrophic lateral sclerosis.

This study aims to observe the nutritional status of Chinese patients with amyotrophic lateral sclerosis (ALS), further investigating its effect on disease progression. One hundred consecutive newly diagnosed ALS patients and fifty controls were included. Weight and body composition were measured by bioelectrical impedance analysis at baseline and follow-ups.

Regional Disruption of White Matter Integrity and Network Connectivity Are Related to Cognition.

Background: Cognitive impairment is common in the elderly population. Exploring patterns of white matter damage at the microstructural level would give important indications for the underlying mechanisms.

Objective: To investigate the spatial patterns of white matter microstructure and structural network alternations in relation to different cognition domainsMethods:Participants from the community-based Shunyi Study were included to investigate the association between white matter measurements and cognition cross-sectionally, via both global and local analysis.

Investigating the Genetic Characteristics of Hippocampal Volume and Plasma β-Amyloid in a Chinese Community-Dwelling Population.

Background And Objectives: The genetic characteristics and correlations of hippocampal volume (HV) and plasma β-amyloid (Aβ), probable endophenotypes for dementia, remain to be explored in a Chinese community cohort. Using whole-exome sequencing (WES) and single nucleotide polymorphism (SNP) array genotyping, we sought to identify rare and common variants and genes influencing these 2 endophenotypes and calculate their heritability and genetic correlation.

Methods: Association analyses with both WES and SNP array genotyping data were performed for HV and plasma Aβ with mixed-effect linear regression model adjusted for sex, age, and total intracranial volume or ε4 while considering familial relatedness.

Alterations in metabolic biomarkers and their potential role in amyotrophic lateral sclerosis.

Background: Metabolic dysfunction has been suggested to be involved in the pathophysiology of amyotrophic lateral sclerosis (ALS). This study aimed to investigate the potential role of metabolic biomarkers in the progression of ALS and understand the possible metabolic mechanisms.

Methods: Fifty-two patients with ALS and 24 normal controls were included, and blood samples were collected for analysis of metabolic biomarkers.

Clinical characteristics and prognosis of amyotrophic lateral sclerosis with autoimmune diseases.

Introduction: The occurrence of autoimmune diseases (AIDs) in amyotrophic lateral sclerosis (ALS) patients is widely reported, but little is known about the associated clinical phenotype. This study aims to evaluate the clinical features and prognosis of ALS patients with AID.

Methods: This retrospective study was based on the ALS Registry dataset of Peking Union Medical College Hospital from 2013 to 2020.

A nomogram to predict prolonged postoperative ileus after intestinal resection for Crohn's disease.

Purpose: We aim to identify the risk factors of PPOI in patients with CD and create a nomogram for prediction of PPOI for CD.

Methods: Data on 462 patients who underwent partial intestinal resection for CD in Jin-ling Hospital between January 2019 and June 2021 were retrospectively collected. Univariate and multivariate analyses were performed to determine the risk factors for PPOI and we used the risk factors to create a nomogram.

Inflammatory biomarkers and cerebral small vessel disease: a community-based cohort study.

Background And Purpose: Although inflammation has been proposed to be a candidate risk factor for cerebral small vessel disease (CSVD), previous findings remain largely inconclusive and vary according to disease status and study designs. The present study aimed to investigate possible associations between inflammatory biomarkers and MRI markers of CSVD.

Methods: A group of 15 serum inflammatory biomarkers representing a variety of those putatively involved in the inflammatory cascade was grouped and assessed in a cross-sectional study involving 960 stroke-free subjects.

Different Types of Circulatory Inflammatory Biomarkers Associated with Cerebral Arterial Atherosclerosis and Dolichoectasia.

Background: Although inflammation is found to be related to arteriopathy pathogenesis, it is yet to be determined the distinct correlations of specific inflammatory biomarker types contributing to different cerebral large vessel diseases. We aimed to investigate the association between multiple inflammatory biomarkers and cerebral atherosclerosis and dolichoectasia in a community-based sample.

Methods: A total of 960 participants of the Shunyi study were included.

Deep medullary veins are associated with widespread brain structural abnormalities.

Our aim is to investigate the association of cerebral deep medullary veins (DMVs) with white matter microstructural integrity and regional brain atrophy in MRI. In a community-based cohort of 979 participants (mean age 55.4 years), DMVs were identified on susceptibility-weighted imaging.

Blood-brain barrier dysfunction and myelin basic protein in survival of amyotrophic lateral sclerosis with or without frontotemporal dementia.

Objective: We aim to investigate blood-brain barrier (BBB) dysfunction and myelin basic protein (MBP) in amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD) and further determine the effect of these factors on the survival of ALS.

Methods: This was a retrospective study of 113 ALS patients, 12 ALS-FTD patients, and 40 disease controls hospitalized between September 2013 and October 2020. CSF parameters including total protein (TP), albumin (Alb), immunoglobulin-G (IgG), and MBP were collected and compared between groups.