Plasma extracellular vesicle-associated miR-512-3p modulates angiogenesis in pediatric Moyamoya disease by targeting ARHGEF3.

Moyamoya disease (MMD) is a chronic cerebrovascular disorder and a leading cause of pediatric stroke. Extracellular vesicles (EVs) carrying microRNAs (miRNAs) play a pivotal role in intercellular communication within cerebrovascular diseases. This study aimed to identify specific miRNAs within plasma-derived EVs from MMD patients and investigate their functional implications.

Radiation-Induced Meningiomas Have an Aggressive Clinical Course: Genetic Signature Is Limited to Alterations, and Epigenetic Signature Is H3K27me3 Loss.

Background: While the clinical course of radiation-induced meningioma (RIM) is considered to be more aggressive than that of sporadic meningioma (SM), the genetic predisposition for RIM is not established well. The present study aimed to analyze the clinical and genetic characteristics of RIMs to increase understanding of the tumorigenesis and prognosis of RIMs.

Methods: We investigated a database of 24 patients who met the RIM criteria between January 2000 and April 2023.

Rhabdoid Tumor Predisposition Syndrome : A Comprehensive Review of Genetics, Clinical Manifestations, and Management.

Rhabdoid tumor predisposition syndrome (RTPS) is a rare autosomal dominant disorder characterized by an increased risk of developing malignant rhabdoid tumors in early childhood. This syndrome is primarily caused by germline heterozygous loss-of-function pathogenic variants in the SMARCB1 gene (RTPS1) and rarely in the SMARCA4 gene (RTPS2). RTPS is characterized by the development of atypical teratoid rhabdoid tumors of the central nervous system, malignant rhabdoid tumors of the kidney, and/or extrarenal extracranial rhabdoid tumors.

Genetic Basis and Clinical Management of Schwannomatosis.

Schwannomatosis (SWN) is now recognized as a broad classification that includes neurofibromatosis (NF) type 2, reflecting their shared genetic and phenotypic characteristics. Previously, SWN and NF type 2 were considered distinct clinical entities; however, the 2022 classification revision has unified them under the umbrella of SWN, with NF type 2 now referred to as NF2-related SWN. SWN arises from mutations in NF2, SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1) or LZTR1 (leucine zipper like transcription regulator 1).

Moyamoya Across the Lifespan: Current Neurologic Care and Future Directions.

Moyamoya arteriopathy is an important cause of stroke across the lifespan, with high rates of incident and recurrent stroke in affected individuals. Although it affects adults and children globally, moyamoya is more prevalent in East Asian countries, particularly Japan and Korea. The R4810K variant of the gene, most common in Asian populations, is associated with severe, early onset, multisystem vasculopathy.

Long-term outcome and predictors of vagus nerve stimulation for drug-resistant epilepsy: Real-world evidence from the Korean national hospital consortium.

Objective: This study aimed to assess the long-term outcome and prognostic factors of vagus nerve stimulation (VNS) for drug-resistant epilepsy (DRE) using real-world data.

Method: We included 189 DRE patients who underwent VNS implantation between 2005 and 2018 at nine national hospitals in Korea. Seizure-frequency data obtained quarterly one year before and after surgery and annually up to four years after surgery were collected from medical records.

Proteomic profiling of cerebrospinal fluid reveals TKT as a potential biomarker for medulloblastoma.

Cerebrospinal fluid (CSF) plays an important role in brain tumors, including medulloblastoma (MBL). Recent advancements in mass spectrometry systems and 'Omics' data analysis methods enable unbiased, high proteome depth research. We conducted proteomic profiling of the total CSF in MBL patients with the purpose of finding a potential diagnostic biomarker for MBL.

Challenges in endoscopic third ventriculostomy for patients with achondroplasia: a focus on third ventricle floor anatomy.

Objective: Hydrocephalus is one of the neurological risks occurring in patients with achondroplasia. Ventriculoperitoneal shunt (VPS) insertion is the most common treatment. However, reports of successful endoscopic third ventriculostomy (ETV) suggest that ETV may be a good alternative to VPS insertion in achondroplasia.

Longitudinal analysis of cranial growth using comprehensive craniometric measurements after fronto-orbital advancement in coronal craniosynostosis.

Objective: The objective of this study was to investigate the longitudinal changes in cranial growth following fronto-orbital advancement (FOA) surgery in patients with unilateral and bilateral coronal craniosynostosis.

Methods: This retrospective review analyzed head circumference (HC) and CT data during preoperative (T0), immediate postoperative (T1), and final follow-up (T2) visits in 40 patients (23 female, 17 male) who underwent FOA using either the open approach or distraction osteogenesis (DO) between 1987 and 2018. The mean follow-up period was 90.

Comprehensive multiomics analysis reveals distinct differences between pediatric choroid plexus papilloma and carcinoma.

Choroid plexus tumors (CPTs) are intraventricular tumors derived from the choroid plexus epithelium and occur frequently in children. The aim of this study was to investigate the genomic and epigenomic characteristics of CPT and identify the differences between choroid plexus papilloma (CPP) and choroid plexus carcinoma (CPC). We conducted multiomics analyses of 20 CPT patients including CPP and CPC.

Post-traumatic Transient Neurological Dysfunction: A Proposal for Pathophysiology.

Unexplained neurological deterioration is occasionally observed in patients with traumatic brain injuries (TBIs). We aimed to describe the clinical features of post-traumatic transient neurological dysfunction and provide new insight into its pathophysiology. We retrospectively collected data from patients with focal neurological deterioration of unknown origin during hospitalization for acute TBI for 48 consecutive months.

Clinical Features and Treatment of Pediatric Cerebral Cavernous Malformations.

Cerebral cavernous malformation (CCM) is a vascular anomaly commonly found in children and young adults. Common clinical presentations of pediatric patients with CCMs include headache, focal neurological deficits, and seizures. Approximately 40% of pediatric patients are asymptomatic.

Neurocognitive outcomes and associated clinical factors 5 years after surgery in children with craniosynostosis.

Objective: Craniosynostosis involves early closure of one or more sutures, which is known to limit normal cranium growth and interfere with normal brain development. Various surgical methods are used, ranging from minimally invasive strip craniectomy to more extensive whole-vault cranioplasty. This study aimed to evaluate neurocognitive outcomes 5 years after surgical treatment in children with craniosynostosis and to evaluate relevant clinical factors.

The Role of Early and Delayed Surgery for Infants with Congenital Brain Tumors.

Purpose: The present study aimed to evaluate the role of early and delayed surgery in congenital brain tumors and analyze the clinical outcomes of infantile brain tumors.

Materials And Methods: We performed a retrospective cohort study on 69 infantile brain tumors at a single institution from January 2008 to June 2023. Outcomes were assessed as early mortality (within 30 days following surgery) to evaluate the risk of early surgery in congenital brain tumors.

Surgical treatment of interhemispheric arachnoid cysts.

Objective: In children, interhemispheric arachnoid cysts (IHACs) are rare lesions often associated with corpus callosum dysgenesis. It is still controversial about surgical treatments for IHACs. We aim to report our experience with pediatric IHAC patients and evaluate surgical courses and neurological developments.

Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy.

Objective: Temporal coordination between oscillations enables intercortical communication and is implicated in cognition. Focal epileptic activity can affect distributed neural networks and interfere with these interactions. Refractory pediatric epilepsies are often accompanied by substantial cognitive comorbidity, but mechanisms and predictors remain mostly unknown.

The Outcomes of Endoscopic Suturectomy in Syndromic Craniosynostosis.

Objective: Endoscopic suturectomy is a widely practiced surgical option for infants with craniosynostosis. But the efficacy and safety of the procedure remain unclear in syndromic patients. This study aims to evaluate the efficacy and safety of endoscopic suturectomy for patients with syndromic craniosynostosis.