Buscar recursos académicos

Abstract The genomic locus that encodes the Leucine-rich repeat kinase 2 (LRRK2) gene is highly pleiotropic and associated with Parkinson’s disease (PD). Coding variants associated with risk of PD act as gain of functi...

Language and action systems are functionally coupled in the brain as demonstrated by converging evidence using Functional magnetic resonance imaging (fMRI), electroencephalography (EEG), transcranial magnetic stimulation...

Abstract Background Tauopathies are a group of neurodegenerative diseases, including Alzheimer’s disease (AD), characterized by progressive accumulation of pathological Tau proteins. Among the diverse Tau species, trun...

Abstract Neuroinflammation is a key pathogenic factor for neurodegenerative diseases. Mesenchymal stem cell (MSC) transplantation, as a potential strategy for regulating neuroinflammation, has received extensive attentio...

Abstract In recent times, both in vitro and in vivo studies have demonstrated toxicological and pathological evidence of microplastic exposure in neurological dysfunction and diseases. The mechanistic linkage of micropla...

Abstract Transcriptome-wide association studies (TWAS) have successfully identified genes associated with complex traits and diseases, but most have been performed using bulk gene expression data, which aggregate signals...

Abstract Background Diffuse astrocytoma (DA) is the most common intraparenchymal brain tumor, primarily occurring in the frontal and temporal lobes. However, its occurrence in the lateral ventricles is rare. Case present...

Autosomal-dominant hyper-IgE syndrome (AD-HIES) is characterized by chronic mucocutaneous candidiasis, recurrent sinopulmonary pneumonias, noninflammatory atopic dermatitis, extremely high levels of serum IgE, and non-im...

BackgroundCurrent prognostic models for cerebral venous sinus thrombosis (CVST) inadequately predict long-term cognitive and functional outcomes, focusing primarily on survival. We aimed to develop and validate a simple,...

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare and progressive neurodegenerative disorder, distinguished by extreme clinical heterogeneity that frequently results in diagnostic delays. Whil...

As the prevalence of chronic rhinosinusitis (CRS) and allergic rhinitis (AR) continues to rise worldwide, more and more patients are reporting a lower quality of life. In addition to causing common nasal symptoms such as...

Yueling Wang,1,* Juntao Yang,2,* Ying Ye,1 Lihua Lu,1 Haolei Wang,1 Peipei Guo,1 Na Hou,1 Xiaohan Huang,3 Cairui Li4 1Department of Medical Imaging, Mental Hospital of Yunnan Province, Kunming, 650000, Pe...

We performed a single-center retrospective analysis of chronic granulomatous disease (CGD) autopsy reports to better understand causes of death, end-organ damage, and disease pathophysiology. Forty-four autopsies of CGD ...

Glioblastoma is the most common and aggressive primary brain tumor in adults that fails to meet survival endpoint criteria in current immunotherapy Phase III clinical trials. As a small subset of immunotherapy-responsive...

Abstract Brain pericytes are mediators of neuroinflammation, as evidenced in vitro, in animal models and humans. We and others have identified the platelet-derived growth factor (PDGF)-BB -PDGF receptor beta (PDGFRB) pat...

Abstract Background and purpose Claudin-5 plays a crucial role in maintaining blood-brain barrier (BBB) integrity through endothelial tight junction formation. Alternative splicing of claudin-5 within the microvascular e...

Abstract Background Patients with hypermobile Ehlers-Danlos Syndrome (hEDS) are at risk of developing craniocervical instability (CCI). Iatrogenic causes of CCI in hEDS are underreported. We describe a case series of hED...

Abstract Background As dementia cases continue to rise, effective prevention strategies are urgently needed. However, objective biomarkers that directly reflect lifestyle factors remain limited. Life’s Essential 8 (LE8...

CTLA4 haploinsufficiency is caused by mutations in the CTLA4 gene. The loss of this important immune checkpoint leads to uncontrolled production of lymphocytes, causing infiltration of T cells into multiple organs (gastr...

BackgroundEarly complement pathway deficiencies predispose to invasive infections with encapsulated bacteria. C2 deficiency is the most common human complement deficiency, yet it may remain clinically silent until a life...

Osteoporosis (OP), a widespread metabolic bone condition characterized by diminished bone mass and compromised microarchitecture, poses a significant global health challenge. The gut microbiota (GM) regulates bone homeos...

Post-stroke cognitive impairment (PSCI) has garnered widespread attention due to its high incidence and its association with increased risk of stroke recurrence and mortality. Growing evidence indicates that early predic...

BackgroundProgressive multifocal leukoencephalopathy (PML) is a rare opportunistic brain infection caused by the JC virus, and idiopathic PML is increasingly recognized. Deeper profiling of such patients often reveals oc...

Background Acute ischaemic stroke often leads to significant disability and mortality. Secondary brain injury caused by post-stroke immune and inflammatory responses worsens outcomes.Aim To assess the efficacy and safety...