Single-Cell Transcriptome Profiling Reveals Dynamic Cell Populations and Immune Infiltration in Moyamoya Disease.

Background: The cellular composition and molecular mechanisms of the pathological arteries in Moyamoya disease (MMD) remain poorly understood. To improve our understanding of pathogenesis in MMD, we aimed to comprehensively map the cellular composition and molecular alterations within the pathological arteries of patients with MMD.

Methods: Superficial temporal artery samples were collected from patients with MMD (n=2) and healthy controls (n=3), yielding a total of 26 371 cells that were used for single-cell RNA sequencing.

Angiogenesis-related genes and immune microenvironment in moyamoya disease: a transcriptomic and functional analysis.

Background: Moyamoya disease (MMD) is a chronic, progressive occlusive cerebrovascular disease. It causes recurrent cerebrovascular stroke due to vascular closure and proliferation. An unclear pathophysiological mechanism is the most significant obstacle in the diagnosis and treatment of MMD.

Machine learning identifies KRT8 dysregulation and endothelial remodeling in Moyamoya disease.

Moyamoya disease (MMD) is a rare occlusive cerebrovascular disease, and its pathological mechanism remains unclear at present. The abnormal vascular remodeling may be involved in vascular endothelial cells. In this study, RNA seq was performed on the superficial temporal arteries of 10 patients with MMD.

Cognitive characteristics and ischemic prognosis of quantitative white matter hyperintensities in adult moyamoya disease.

Background: White matter hyperintensities (WMHs) are associated with long-term stroke and cognitive decline in the elderly population but differ from the young and middle-aged populations, especially for those with moyamoya disease (MMD). The aim of this study was to modify the Fazekas grade and quantitatively analyze the effects of WMHs on multiple cognitive domains and 2-year clinical ischemic events in adult MMD patients.

Methods: Adult MMD patients and healthy controls were recruited for a comprehensive cognitive assessment.

A Machine Learning-Based Diagnostic Nomogram for Moyamoya Disease: The Validation of Hypoxia-Immune Gene Signatures.

Moyamoya disease (MMD) is a cerebrovascular disease which can result in severe strokes. However, its etiology is still unknown. We analyzed gene expression datasets from 36 MMD patients and 24 controls to identify differentially expressed genes.

Single-cell transcriptome profiling reveals dynamic cell populations and immune infiltration in cerebral cavernous malformation.

Introduction: The cellular subpopulations and signaling pathways in the pathological tissues of cerebral cavernous malformation (CCM) remain incompletely understood. To gain a deeper understanding of the pathogenesis of CCM, we aimed to comprehensively map the cellular subpopulations and signaling pathway alterations in the pathological tissues of sporadic CCM patients.

Methods: Lesional brain vascular tissues from CCM patients and normal brain vascular tissues from controls were collected.

Development and validation of a scoring system to evaluate and clinically manage postoperative acute infarction complications in moyamoya disease.

Background: Revascularization is the most widely used treatment for moyamoya disease (MMD) but is associated with relatively high incidence of ischaemic complications in adult patients. At present, the guidelines in various countries do not include effective recommendations regarding postoperative complications, and a simple, practical and reliable scoring system is needed for rapid clinical evaluation and decision-making.

Methods: In this prognostic study, we developed a prediction model based on a single-centre cohort and validated it in a multicentre external prospective cohort.

Integrative Machine Learning Approach to Explore Glycosylation Signatures and Immune Landscape in Moyamoya Disease.

Moyamoya disease (MMD) is a rare, chronic cerebrovascular disorder of uncertain etiology. Although abnormal glucose metabolism has been implicated, the contribution of glycosylation-related genes in MMD remains elusive. In this study, we analyzed 2 transcriptome data sets (GSE189993 and GSE131293) from the Gene Expression Omnibus (GEO) database to identify 723 differentially expressed genes (DEGs) between MMD patients and controls.

Serum amyloid A2-induced phenotypic switching of vascular smooth muscle cells in moyamoya disease.

Objective: This study was conducted to explore the role of serum amyloid A2 (SAA2) protein in the phenotype changes of vascular smooth muscle cells (VSMCs) in moyamoya disease (MMD).

Methods: Between January 2020 and August 2022, individuals with diagnosed MMD were identified through a combination of their neuroradiological assessments and medical history. Control participants consisted of healthy adult volunteers who did not have MMD or any preexisting diseases.

Improvement in multiple cognitive domains via combined revascularization by 6 months' follow-up: a new potential surgical indication in moyamoya disease.

Objective: Moyamoya disease (MMD) is a cerebrovascular condition characterized by progressive stenosis of the main branches of the cerebral artery. Patients with MMD are prone to cognitive decline due to chronic hypoperfusion. Whether revascularization surgery can reverse cognitive dysfunction by improving cerebral blood flow perfusion and what types and levels of cognitive dysfunction can benefit most from the surgery remain unclear.

Dynamic cellular composition and immune landscape revealed by single-cell transcriptome profiling in a brain arteriovenous malformation.

Background: Cerebral arteriovenous malformation is a congenital blood vessel abnormality with its immune mechanism remains unclear. Our study characterized the change of cellular composition and gene expression landscape in brain arteriovenous malformation (bAVM).

Methods: We conducted single-cell RNA sequencing analysis on one bAVM sample and three healthy control (HC) samples.

Characterization of moyamoya disease molecular subtypes through disulfidptosis‑related genes and immune landscape analysis.

Moyamoya disease (MMD), a chronic cerebrovascular disorder, is characterized by progressive stenosis of major intracranial arteries. However, the mechanisms underlying the pathological narrowing have remained largely elusive. Disulfidptosis is a new mode of cell death caused by the vulnerability of the actin cytoskeleton to disulfide stress, and proteomic profiling of MMD has revealed that abnormal proliferation of endothelial cells may be induced by upregulation of focal adhesion-related proteins.

Neuroplasticity and functional reorganization of language in patients with arteriovenous malformations: insights from neuroimaging and clinical interventions.

Patients with arteriovenous malformations (AVMs) located in the functional area of speech often exhibit language dysfunction, and neuroplasticity allows the brain of some patients to regain speech through functional reorganization. Exploring the mechanism of AVMs-induced reorganization of language function is important for understanding neuroplasticity and improving clinical intervention strategies. This review systematically searched and analyzed the research literature in related fields in recent years, covering data from neuroimaging, functional magnetic resonance imaging (fMRI), and clinical case studies.

Combining machine learning with external validation to explore necroptosis and immune response in moyamoya disease.

Moyamoya disease (MMD) is a rare chronic vascular disease leads to cognitive impairment and stroke with its etiology unknown. The relationship between necroptosis or necroinflammation and MMD pathogenesis was poorly understood. Differentially expressed necroinflammation and necroptosis related genes (DE-NiNRGs) were selected based on the public gene expression data from Gene Expression Omnibus (GEO) and validated by our self-test data of MMD patients and control group.

Research progress in unilateral moyamoya disease.

Unilateral moyamoya disease (U-MMD) is a chronic vascular disease characterized by progressive stenosis and occlusion of the terminal end of the internal carotid artery and its main branches, resulting in the appearance of moyamoya-like blood vessels at the base of the brain. The etiology of U-MMD is unknown, it accounts for 9.7-17.

Advances in moyamoya disease: pathogenesis, diagnosis, and therapeutic interventions.

Moyamoya disease (MMD) is a type of cerebrovascular disease characterized by occlusion of the distal end of the internal carotid artery and the formation of collateral blood vessels. Over the past 20 years, the landscape of research on MMD has significantly transformed. In this review, we provide insights into the pathogenesis, diagnosis, and therapeutic interventions in MMD.

Cognitive dysfunction in Moyamoya disease: latest developments and future directions.

Cognitive dysfunction is common in Moyamoya disease (MMD). However, current knowledge of cognitive impairment in MMD is inadequate. In this review, we explored the characteristics of altered cognitive function associated with MMD and offered recommendations aimed at guiding potential research endeavors into the cognitive dysfunction in MMD.

Real-world clinical data-driven modelling on the initiation time of antiviral prophylaxis among pregnant women with chronic hepatitis B infection.

Background & Aims: The risk of mother-to-child transmission for pregnant women with chronic hepatitis B (CHB) still exists, especially for those with high HBV DNA levels. The guidelines for initiating prophylaxis for pregnant women with CHB vary across countries. We aimed to explore the latest prophylaxis initiation time for these women.