Dural arteriovenous fistulae in a 6-year-old girl with trisomy 21 and congenital heart disease.

Dural arteriovenous fistula (DAVF) represents a pathological group of intracranial shunts arising from the dural artery to venous sinus and veins. Childhood-onset DAVF is generally considered to be poor in prognosis, whereas only limited information is available for the onset and long-term outcomes. We herein report a Japanese girl with trisomy 21, large ventricular septal defects, and pulmonary vein stenosis, for which a transcatheter stent had been placed after birth.

Hemizygous deletion of cyclin-dependent kinase inhibitor 2A/B with p16 immuno-negative and methylthioadenosine phosphorylase retention predicts poor prognosis in IDH-mutant adult glioma.

Background: Homozygous deletion of the tumor suppression genes cyclin-dependent kinase inhibitor 2A/B () is a strong adverse prognostic factor in IDH-mutant gliomas, particularly astrocytoma. However, the impact of hemizygous deletion of is unknown. Furthermore, the influence of status in IDH-mutant and 1p/19q-codeleted oligodendroglioma remains controversial.

Advantages of 3D High-Resolution Vessel Wall Imaging in a Patient With Blood Blister-Like Aneurysm: A Case Report and Literature Review.

Blood blister-like aneurysms (BBAs) are rare and challenging intracranial aneurysms. They pose significant diagnostic and surgical risks due to their delicate walls. Accounting for a small percentage of intracranial aneurysms, BBAs are pathologically pseudoaneurysms, often resulting from arterial dissection, with a high tendency to rupture.

Liquid Biopsy for Glioma Using Cell-Free DNA in Cerebrospinal Fluid.

Glioma is one of the most common primary central nervous system (CNS) tumors, and its molecular diagnosis is crucial. However, surgical resection or biopsy is risky when the tumor is located deep in the brain or brainstem. In such cases, a minimally invasive approach to liquid biopsy is beneficial.

Brain volume measured by synthetic magnetic resonance imaging in adult moyamoya disease correlates with cerebral blood flow and brain function.

Moyamoya disease (MMD) is characterized by progressive arterial occlusion, causing chronic hemodynamic impairment, which can reduce brain volume. A novel quantitative technique, synthetic magnetic resonance imaging (SyMRI), can evaluate brain volume. This study aimed to investigate whether brain volume measured with SyMRI correlated with cerebral blood flow (CBF) and brain function in adult MMD.