Objective: To investigate the effect of nuclear factor erythroid 2-related factor 2 (Nrf2) in the alteration of tight junction protein expression in choroid plexus epithelial cells created by lanthanum-activated matrix metalloproteinase 9 (MMP9) . Methods: In October 2020, immortalized rat choroid plexus epithelial cell line (Z310) cells were used as the blood-cerebrospinal fluid barrier in vitro, and were divided into control group and 0.125, 0.25, 0.5 mmol/L lanthanum chloride (LaCl(3)) treatment group. After treating Z310 cells with different concentrations of LaCl(3) for 24 hours, the morphological changes of Z310 cells were observed under inverted microscope, the protein expression levels of MMP9, occludin and zonula occludens-1 (ZO-1) were observed by cellular immunofluorescence method, and the protein expression levels of MMP9, tissue inhibitors of metalloproteinase1 (TIMP1) , occludin, ZO-1 and Nrf2 were detected by Western blotting. The level of reactive oxygen species (ROS) in cells was detected by flow cytometry. Results: Compared with the control group, Z310 cells in the LaCl(3) treatment group were smaller in size, with fewer intercellular junctions, and more dead cells and cell fragments. The expression level of MMP9 protein in cells treated with 0.25 and 0.5 mmol/L LaCl(3) was significantly higher than that in the control group (P<0.05) , and the expression level of TIMP1 and tight junction proteins occudin and ZO-1 was significantly lower than that in the control group (P<0.05) . Compared with the control group, the ROS production level in the 0.25, 0.5 mmol/L LaCl(3) treatment group was significantly increased (P<0.05) , and the Nrf2 protein expression level in the 0.125, 0.25, 0.5 mmol/L LaCl(3) treatment group was significantly decreased (P<0.05) . Conclusion: Lanthanum may increase the level of ROS in cells by down regulating the expression of Nrf2, thus activating MMP9 to reduce the expression level of intercellular tight junction proteins occludin and ZO-1.
Rats ; Animals ; Matrix Metalloproteinase 9/metabolism* ; NF-E2-Related Factor 2/metabolism* ; Tight Junction Proteins/metabolism* ; Occludin/pharmacology* ; Choroid Plexus/metabolism* ; Reactive Oxygen Species/metabolism* ; Lanthanum/pharmacology* ; Epithelial Cells ; Zonula Occludens-1 Protein/metabolism* ; Phosphoproteins/pharmacology*

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for fetuses with choroid plexus cysts (CPC) detected by prenatal ultrasonography. METHODS: Amniotic fluid chromosomal karyotype was analyzed in 104 fetuses with CPC, and copy number variations (CNVs) among the fetuses were detected by using CMA. RESULTS: Ten fetuses (9.62%) were found to have an abnormal karyotype, and 14 additional CNVs were detected in those with a normal karyotype. The fetuses were divided into isolated CPC group (n = 87) and non-isolated CPC group (n = 17) based on the presence of additional ultrasonographic abnormalities. The detection rates for karyotypic abnormalities of the two groups were 4.6% and 35.3%, respectively, whilst those for the CMA were 4.6% and 47.1%, respectively. The detection rates for karyotypic abnormalities and CMA of the non-isolated CPC group were significantly higher than those of the isolated CPC group (P < 0.05). The detection rate for CMA in the non-isolated group was significantly higher than chromosomal karyotype abnormalities (P < 0.05). Among the 8 fetuses with abnormal CMA, 4 had single umbilical artery, 3 had abnormal cardiac structure, and 2 had enhanced intestinal echo. CONCLUSION CPC is closely associated with chromosomal abnormalities. Chromosome karyotype analysis in combination with CMA can effectively detect fetal chromosomal abnormalities and provide a basis for genetic counseling.
Humans ; Female ; Pregnancy ; DNA Copy Number Variations ; Choroid Plexus/diagnostic imaging* ; Microarray Analysis ; Karyotype ; Chromosome Aberrations ; Amniotic Fluid ; Cysts

Choroid plexus tumors are uncommon brain tumors that primarily occur in children. Most of these tumors originate from the intraventricular area, and the most common clinicalpresentation is increased intracranial pressure. Dissemination through the cerebrospinal fluid space is the inevitable natural course of the disease. Here, we present 2 rare cases of adult choroid plexus carcinoma (CPC), each with distinct clinical presentation and progression. The first case was a 40-year-old male who presented with multiple intraventricular masses. After surgical biopsy, radiation and intrathecal chemotherapy failed to elicit any response. The patient progressed with spinal cord dissemination and expired 1 year later. The second case presented with visual disturbance, and brain MRI revealed a large ovoid juxtaventricular mass with peritumoral edema. This 49-year-old female patient underwent craniotomy for what was thought to be a high-grade glioma; however, the mass was connected to the choroid plexus at the operative field. Her pathology specimen was diagnosed as CPC, and adjuvant systemic chemotherapy was administered. She has now been free of recurrence for 10 months. The description of the presentation and progression of these rare adult-onset CPC provides insight for the diagnosis and treatment of other rare instances of choroid plexus tumors.
Adult ; Biopsy ; Brain ; Brain Neoplasms ; Cerebrospinal Fluid ; Child ; Choroid Plexus Neoplasms ; Choroid Plexus ; Choroid ; Craniotomy ; Diagnosis ; Drug Therapy ; Edema ; Female ; Fourth Ventricle ; Glioma ; Humans ; Intracranial Pressure ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pathology ; Recurrence ; Spinal Cord

A 35-year-old female visited emergency department for a sudden onset of headache with vomiting after management for abortion at local department. Neurological examination revealed drowsy mentality without focal neurological deficits. CT showed 3.2×3.4 cm hyperdense intraventricular mass with intraventricular hemorrhage. The intraventricular hemorrhage was found in lateral, 3rd, and 4th ventricles. MRI showed well enhancing intraventricular mass abutting choroid plexus in the trigone of the right lateral ventricle. CT angiography showed tortuous prominent arteries from choroidal artery in tumor. Her neurological status deteriorated to stupor and contralateral hemiparesis during planned preoperative workup. Urgent transtemporal and transcortical approach with decompressive craniectomy for removal of intraventricular meningioma with hemorrhage was done. Grossly total removal of ventricular mass was achieved. Pathological finding was meningotheliomatous meningioma of World Health Organization (WHO) grade I. The patient recovered to alert mentality and no motor deficit after intensive care for increased intracranial pressure. However, visual field defect was developed due to posterior cerebral artery territory infarction. The visual deficit did not resolve during follow up period. Lateral ventricular meningioma with spontaneous intraventricular hemorrhage in pregnant woman is very uncommon. We report a surgical case of lateral ventricular meningioma with rapid neurological deterioration for intraventricular hemorrhage.
Adult ; Angiography ; Arteries ; Choroid ; Choroid Plexus ; Critical Care ; Decompressive Craniectomy ; Emergency Service, Hospital ; Female ; Follow-Up Studies ; Fourth Ventricle ; Headache ; Hemorrhage ; Humans ; Infarction ; Intracranial Pressure ; Lateral Ventricles ; Magnetic Resonance Imaging ; Meningioma ; Neurologic Examination ; Paresis ; Posterior Cerebral Artery ; Pregnancy ; Pregnant Women ; Stupor ; Visual Fields ; Vomiting ; World Health Organization

Hemosiderosis is characterized by the deposition of excess iron in body tissues. The choroid plexus is an important part of the central nervous system that can be the primary site of iron overload. T2*-weighted gradient echo (GRE) sequence provides high sensitivity for demonstrating cerebral microhemorrhagic foci and iron deposition. In the present study, we describe the case of a 15-year-old boy with acute lymphoblastic leukemia, in whom repeated transfusion led to iron accumulation in the brain. GRE sequence effectively demonstrated hemosiderin deposition in the choroid plexus.
Adolescent ; Brain ; Central Nervous System ; Choroid Plexus ; Choroid ; Hemosiderin ; Hemosiderosis ; Humans ; Iron Overload ; Iron ; Magnetic Resonance Imaging ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma

Background: Decision-making concerning the treatment of choroid plexus tumor (CPT) in pediatric patients remains a topic of considerable debate. The aim of this work was to describe clinical features and prognostic risk factors of CPT in the pediatric population and to provide theoretical opinions regarding clinical decisions for CPT. Methods: The data of 96 patients with CPT and younger than 14 years were retrospectively analyzed. Clinical characteristics such as pathological type of CPTs, rate and severity of hydrocephalus, treatment and outcome, and recurrence were investigated. For categorical variables, the Pearson's Chi-square test was performed. The Mann-Whitney U-test was used for comparisons between nonnormally distributed parameters. Log-rank test was used for progression-free survival (PFS). Results: The study included 70 choroid plexus papilloma (CPP) cases, 17 atypical choroid plexus papilloma (aCPP) cases, and 9 choroid plexus carcinoma (CPC) cases. Compared with patients with CPP or aCPP, patients with CPC had a shorter disease course (median: CPP, 4 months; aCPP, 2 months; CPC, 1 month; H: 23.5, P < 0.001), higher rate of acute hydrocephalus (CPP, 27.1%; aCPP, 52.9%; CPC, 77.8%; χ = 10.9, P < 0.05), and lower incidence of cure rate (CPP, 85.7%; aCPP, 70.5%; CPC, 33.3%; χ = 13.5, P < 0.05). The severity of hydrocephalus with tumor in the lateral or third ventricle was significantly higher than that with tumors in the fourth ventricle (severe hydrocephalus: lateral ventricle, 51.7%; third ventricle, 47.0%; fourth ventricle, 11.1%; χ = 26.0, P < 0.001). Patients with gross total surgical resection had no better PFS than those with partial resection because of the use of adjuvant therapy in the latter (χ = 4.0, P > 0.05). Patients with CPC experienced shorter time for recurrence than those with CPP or aCPP (χ = 40.1, P < 0.0001). Conclusions Our results indicated that CPP in the fourth ventricle could trigger serious clinical symptoms at an early stage, requiring early intervention. Adjuvant treatment might be necessary for patients with partially resected CPP, aCPP, and CPC to achieve a favorable outcome.
Child ; Child, Preschool ; Choroid Plexus Neoplasms ; mortality ; pathology ; surgery ; Female ; Humans ; Hydrocephalus ; etiology ; Infant ; Male ; Neoplasm Metastasis ; Neoplasm Recurrence, Local ; Prognosis ; Risk Factors

Bestrophin-1 (Best1) is a calcium-activated anion channel identified from retinal pigment epithelium where human mutations are associated with Best's macular degeneration. Best1 is known to be expressed in a variety of tissues including the brain, and is thought to be involved in many physiological processes. This review focuses on the current state of knowledge on aspects of expression and function of Best1 in the brain. Best1 protein is observed in cortical and hippocampal astrocytes, in cerebellar Bergmann glia and lamellar astrocytes, in thalamic reticular neurons, in meninges and in the epithelial cells of the choroid plexus. The most prominent feature of Best1 is its significant permeability to glutamate and GABA in addition to chloride ions because glutamate and GABA are important transmitters in the brain. Under physiological conditions, both Best1-mediated glutamate release and tonic GABA release from astrocytes modulate neuronal excitability, synaptic transmission and synaptic plasticity. Under pathological conditions such as neuroinflammation and neurodegeneration, reactive astrocytes phenotypically switch from GABA-negative to GABA-producing and redistribute Best1 from the perisynaptic microdomains to the soma and processes to tonically release GABA via Best1. This implicates that tonic GABA release from reactive astrocyte via redistributed Best1 is a common phenomenon that occur in various pathological conditions with astrogliosis such as traumatic brain injury, neuroinflammation, neurodegeneration, and hypoxic and ischemic insults. These properties of Best1, including the permeation and release of glutamate and GABA and its redistribution in reactive astrocytes, promise us exciting discoveries of novel brain functions to be uncovered in the future.
Astrocytes ; Brain Injuries ; Brain* ; Carisoprodol ; Choroid Plexus ; Epithelial Cells ; gamma-Aminobutyric Acid ; Glutamic Acid ; Humans ; Ions ; Macular Degeneration ; Meninges ; Neuroglia ; Neuronal Plasticity ; Neurons ; Permeability ; Physiological Processes ; Retinal Pigment Epithelium ; Synaptic Transmission

OBJECTIVE: Aquaporin (AQP) is a recently discovered protein that regulates water homeostasis. The present study examines changes in AQP 1 and 4 in kaolin induced experimental hydrocephalic rats to elucidate the pathophysiology of water homeostasis in the disease. METHODS: Hydrocephalus was induced by percutaneous intracisternal injection of kaolin. The brain parenchyma and choroid plexus were obtained at 3, 7, 14 and 30 days after injection. Protein expressions of AQP 1 and 4 were measured by western blot, immunohistochemistry (IHC) and immunofluorescence (IF) stains. RESULTS: In the choroid plexus of the kaolin-induced hydrocephalus group, AQP 1 expression identified by western blot exhibited sharp decrease in the early stage (55% by the 3rd day and 22% by the 7th day), but indicated a 2.2-fold increase in the later stage (30th day) in comparison with control groups. In the parenchyma, a quantitative measurement of AQP 4 expression revealed variable results on the 3rd and 7th days, but indicated expression 2.1 times higher than the control in the later stage (30th day). In addition, the IHC and IF findings supported the patterns of expression of AQP 1 in the choroid plexus and AQP 4 in the parenchyma. CONCLUSION: Expression of AQP 1 decreased sharply in the choroid plexus of acute hydrocephalus rats and increased at later stages. Expression of AQP 4 in the brain parenchyma was variable in the early stage in the hydrocephalus group, but was higher than in the control in the later stage. These findings suggest a compensating role of AQPs in water physiology in hydrocephalus.
Animals ; Aquaporin 1* ; Aquaporins ; Blotting, Western ; Brain* ; Choroid Plexus* ; Choroid* ; Coloring Agents ; Fluorescent Antibody Technique ; Homeostasis ; Hydrocephalus ; Immunohistochemistry ; Kaolin ; Physiology ; Rats* ; Water

Down syndrome (DS, trisomy 21) is associated with neuroanatomical abnormalities, including choroid plexus cysts and various types of brain tumors. Trisomy 21 is associated with oncogenic factor, especially in brain tumor. The brain of DS patients had a smaller volume of gray and white matter and an unbalanced cerebellum volume, indicating a smaller volume overall than normal. We report a case of a DS male patient who had an incidentally discovered neuroglial cyst in left cerebellar vermis. He visited our hospital with gait disturbance and fatigue. But, the neurologic exam was normal. To the best of our knowledge, this is the first reported case of a neuroglial cyst in a trisomy 21 patient. As the developmental mechanisms of a cyst and the choroid plexus are related, more research is needed.
Brain ; Brain Neoplasms ; Central Nervous System Cysts ; Cerebellar Vermis ; Cerebellum ; Choroid Plexus ; Down Syndrome* ; Fatigue ; Gait ; Humans ; Male ; Neuroglia ; Trisomy ; White Matter

OBJECTIVE: To present the case of a 46-year-old woman with basal cell carcinoma, odontogenic cysts, brain anomalies and skeletal abnormalities.
METHODS:
Design: Case Report
Setting: Tertiary National University Hospital
Patient: One
RESULTS: A 46-year-old woman consulted for a non-healing, necrotic left orbital ulcer that started as a skin-colored, papilla-like lesion on the upper eyelid. There were also hyperpigmented lesions with ill-defined borders over both paranasal areas. Tissue biopsies revealed basal cell carcinoma. Radiologic imaging showed cystic lesions in the mandible, straightening of cervical vertebrae and calcifications of the falx cerebri, tentorium cerebelli, pineal gland and choroid plexus. Based on established major and minor clinical and radiologic criteria, we arrived at a diagnosis of Gorlin Goltz Syndrome or Nevoid Basal Cell Carcinoma Syndrome (NBCCS). She underwent wide excision of the left orbital mass with exenteration, excision of left and right paranasal masses, left total parotidectomy with facial nerve preservation, enucleation of mandibular cyst and cervicofacial reconstruction with skin grafts of the left orbital area and ala.
CONCLUSIONS: NBCCS is a rare autosomal dominant disorder with a high tendency for neoplasms and developmental anomalies. Diagnosis can easily be missed if the physician is unaware of its classic but bizarre presentation. Early recognition and prompt specialist referral is very important in order to prevent complications and provide better prognosis. Patients should be reminded of the importance of follow-up as other presentations of the syndrome may manifest later in life and family genetic screening and counseling should be undertaken.

Human ; Female ; Middle Aged ; Basal Cell Nevus Syndrome ; Choroid Plexus ; Pineal Gland ; Facial Nerve ; Ulcer ; Carcinoma, Basal Cell ; Odontogenic Cysts ; Mandible ; Cervical Vertebrae ; Prefrontal Cortex