Gene Gain Predicts an Unfavorable Prognosis in HIV-Positive Primary Central Nervous System Lymphoma.

Primary central nervous system lymphoma (PCNSL) refers to non-Hodgkin lymphoma (NHL) originating in the brain, eyes, spinal cord, and cerebrospinal fluid without the presence of lymphoma outside of the central nervous system [...

The boundaries between PML and PML-IRIS: difficult to define, pathology may predict.

Background: Progressive multifocal leukoencephalopathy (PML), caused by John Cunningham (JC) virus reactivation, represents a critical neurological complication in AIDS-related immunosuppression. This single-center study conducted a clinicopathological analysis of 19 confirmed PML cases in an AIDS cohort (16 biopsy; 3 surgical specimens), employing comprehensive neuropathological evaluation. Immunohistochemical testing included SV40, NF, NeuN, P53, Ki-67, GFAP, Oligo-2, and CD68.

The activation of the NF-κB p65/PD-L1 signaling pathway in AIDS-related PCNSL is related to TNF-α and IFN-γ but not to MYD88 and CD79B mutations.

AIDS-related primary central nervous system lymphoma (AR-PCNSL) differs from immunocompetent PCNSL (IC-PCNSL) due to its immune function and higher mortality rates, emphasizing the urgent need for new treatment targets. This study aimed to investigate the role of the NF-κB p65/PD-L1 signaling pathway in AR-PCNSL. A total of 56 PCNSL tissue samples, including 32 AR-PCNSL cases and 24 IC-PCNSL cases, were analyzed for clinicopathological and imaging features.

Piezo1 in microglial cells: Implications for neuroinflammation and tumorigenesis.

Microglia, the central nervous system (CNS) resident immune cells, are pivotal in regulating neurodevelopment, maintaining neural homeostasis, and mediating neuroinflammatory responses. Recent research has highlighted the importance of mechanotransduction, the process by which cells convert mechanical stimuli into biochemical signals, in regulating microglial activity. Among the various mechanosensitive channels, Piezo1 has emerged as a key player in microglia, influencing their behavior under both physiological and pathological conditions.

Endothelial cell ferroptosis influences IDH wild-type glioblastoma growth in recurrent glioblastoma multiforme patients.

Glioblastomas are known for their poor clinical prognosis, with recurrent tumors often exhibiting greater invasiveness and faster growth rates compared to primary tumors. To understand the intratumoral changes driving this phenomenon, we employed single-cell sequencing to analyze the differences between two pairs of primary and recurrent glioblastomas. Our findings revealed an upregulation of ferroptosis in endothelial cells within recurrent tumors, identified by the significant overexpression of the NOX4 gene.

Clinical characteristics and prognostic analysis of patients with HIV and glioma: A case series and literature review.

Cerebral glial tumors have become increasingly common in human immunodeficiency virus (HIV)-positive patients. The present study aimed to report a series of such cases, explore their clinical and pathological characteristics and subject all the reported cases to a survival analysis. The characteristics, management and prognosis of 10 HIV-positive patients with brain gliomas enrolled in a single hospital were investigated in detail.

A nonsense mutation in causing Von Hippel-Lindau syndrome in a large Chinese family-a genetic study of familial neoplastic disease.

Von Hippel-Lindau (VHL) syndrome is a multi-organ neoplastic disease characterized by highly vascular and cystic tumors in the central nervous system (CNS), retina, and visceral lesions, which are mainly caused by germline mutations in . We aimed to detect novel mutations in gene in families with VHL. Here, a large consanguineous four-generation family with variant phenotypes of VHL syndrome was recruited, and its molecular genetics were tested Sanger sequencing.

The comparison of the watertight and non-watertight dural closure in supratentorial craniotomy: A single-institute 10-year experience with 698 patients.

Watertight dural closure (WTDC) is considered crucial by many neurosurgeons in cranial base surgery, infratentorial craniotomy, and spinal intradural procedure. Whether WTDC also reduce complications remains controversial in supratentorial craniotomy. The objective of this study is to investigate the relationship between WTDC and CSF-related complications in supratentorial craniotomy for the resection of space-occupying lesions.

[Clinical features and genetic analysis of a patient with type 2 neurofibromatosis manifested as oculomotor nerve palsy].

Objective: To report on a rare case of Neurofibromatosis type 2 (NF2) manifesting as oculomotor nerve palsy and explore its genetic basis.

Methods: A patient with NF2 who had presented at Beijing Ditan Hospital Affiliated to Capital Medical University on July 10, 2021 was selected as the study subject. Cranial and spinal cord magnetic resonance imaging (MRI) was carried out on the patient and his parents.

Clinical factors predictive of new-onset seizure in patients with AIDS-related brain parenchymal lesion.

Purpose: This study aimed to determine the clinical characteristics and risk factors of new-onset seizure in patients with AIDS-related brain parenchymal lesion.

Methods: A retrospective case-control study from January 2015 to December 2021 was conducted to determine the clinical characteristics and etiology of seizures in patients with AIDS-related brain parenchymal lesion. Univariate and multivariate logistic regression analyses were used to identify risk factors associated with seizures.

Clinical pathology of primary central nervous system lymphoma in HIV-positive patients-a 41 Chinese patients retrospective study.

Objectives: The purpose of this study was to investigate the clinicopathological characteristics of primary central nervous system lymphoma (PCNSL).

Methods: We collected 41 PCNSL formalin-fixed, paraffin-embedded (FFPE) samples from human immunodeficiency virus (HIV)-positive patients and performed HE (haematoxylin-eosin) staining, immunohistochemistry (IHC) staining, in situ hybridization, fluorescence in situ hybridization (FISH). Real-time quantitative polymerase chain reaction (RT-qPCR) was performed in 9 cases of FFPE samples.

Diagnostic value of EBV-DNA in CSF for PCNSL in AIDS patients with focal brain lesions: A meta-analysis of diagnostic test.

Background: Epstein-Barr virus (EBV) infection plays a crucial role in the progression of acquired immunodeficiency syndrome related primary central nervous system lymphoma (AR-PCNSL). This study aimed at evaluating the diagnostic value of cerebrospinal spinal fluid (CSF) EBV-deoxyribonucleic acid (DNA) for PCNSL in patients with infection of human immunodeficiency (HIV) virus through a meta-analysis of diagnostic test.

Methods: A systematic search in PubMed, Embase, Web of Science, Wanfang, Chinese Biomedical Database and Chinese National Knowledge Infrastructure was conducted before May 10, 2022.

Diagnostic value of real-time PCR of brain mass lesion in HIV-associated toxoplasmic encephalitis: a case series.

Background: Toxoplasmic encephalitis (TE) is a leading cause of brain mass lesions (BML) in human immunodeficiency viruses (HIV)-infected patients. Yet, so far, no accurate diagnostic approach for TE has been developed. Herein, we presented a case series (9 HIV-infected patients with TG confirmed by RT-PCR of BML) to assess the diagnostic value of reverse transcription-polymerase chain reaction (RT-PCR) on TE.

Exome sequencing of 112 trios identifies recessive genetic variants in brain arteriovenous malformations.

Background: Brain arteriovenous malformation (BAVM) is a main cause of cerebral hemorrhage and hemorrhagic stroke in adolescents. Morphologically, a BAVM is an abnormal connection between cerebrovascular arteries and veins. The genetic etiology of BAVMs has not been fully elucidated.

Corrigendum: Application of the Pipeline Embolization Device for Giant Vertebrobasilar Dissecting Aneurysms in Pediatric Patients.

[This corrects the article DOI: 10.3389/fneur.2019.

Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family.

Background: Genetic risk factors play an important role in the pathogenesis of familial intracranial aneurysms (FIAs); however, the molecular mechanisms remain largely unknown.

Objective: To investigate potential FIA-causing genetic variants by rare variant interrogation and a family-based genomics approach in a large family with an extensive multigenerational pedigree with FIAs.

Method: Exome sequencing (ES) was performed in a dominant likely family with intracranial aneurysms (IAs).

Application of the Pipeline Embolization Device for Giant Vertebrobasilar Dissecting Aneurysms in Pediatric Patients.

To evaluate the feasibility and effectiveness of the pipeline embolization device (PED) for the treatment of pediatric giant vertebrobasilar dissecting aneurysms (VBDAs). We retrospectively reviewed our institutional clinical database and identified 2,706 patients who presented with a diagnosis of intracranial aneurysms from January 2016 to June 2018. Among this group, 153 patients were diagnosed with VBDAs, and 54 of these patients underwent PED therapy.

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).

Background: Brain arteriovenous malformations (BAVM) represent a congenital anomaly of the cerebral vessels with a prevalence of 10-18/100 000. BAVM is the leading aetiology of intracranial haemorrhage in children. Our objective was to identify gene variants potentially contributing to disease and to better define the molecular aetiology underlying non-syndromic sporadic BAVM.

Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).

Intracranial vertebral-basilar artery dissection (IVAD) is an arterial disorder leading to life-threatening consequences. Genetic factors are known to be causative to certain syndromic forms of IVAD. However, systematic study of the molecular basis of sporadic and isolated IVAD is lacking.