• Childhood Kidney Diseases
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• v.17 no.2
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• pp.143-148
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• 2013

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder, which can affect different organs or systems of the body, including the cardiovascular system. One of the more serious aspects of the disease relates to arterial involvement. In particular, renal artery stenosis is one of the most common vascular abnormalities in patients with NF-1, and the manifestations vary, ranging from no symptoms to end-stage renal failure. Treatment usually consists of antihypertensive drugs, percutaneous transluminal angioplasty, or surgery. Other causes of hypertension should be ruled out and the patient followed up for close monitoring and proper management. We report a case of bilateral renal artery stenosis and hypertension in a patient with moyamoya disease associated with neurofibromatosis type 1. This report discusses the literature available on the current subject, its clinical features, diagnosis, and treatment.

• Journal of Korean Neurosurgical Society
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• v.38 no.6
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• pp.413-418
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• 2005

Objective : Although an encephaloduroarteriosynangiosis procedure using the superficial temporal artery [STA-EDAS] is an effective indirect bypass method in children with moyamoya disease[MMD], there is still a need for an additional bypass operation that can cover the area of the posterior circulation. The goal of this study is to evaluate the efficacy of the EDAS procedure using the occipital arteries [OA-EDAS]. Methods : From August 2003 to April 2004, We performed OA-EDAS in sixteen patients with MMD who have a circulatory insufficiency in the territory of the posterior cerebral artery[PCA]. The medical records were reviewed retrospectively. The surgical outcomes, including the changes in neurological status and imaging studies, with the degree of neovascularization on the cerebral angiogram, and the hemodynamic changes on single-photon emission computed tomography[SPECT], were analyzed. Results : These 16 children consisted of 5 boys and 11 girls aged 2 to 9 years. The clinical outcome of their PCA symptoms, such as visual transient ischemic attacks[TIAs] or visual field defect, was favorable in 14 patients of 16. Nine patients of 11 who underwent follow up magnetic resonance imaging[MRI] showed favorable MRI changes. On angiogram most of the patients exhibited good or fair revascularization of the PCA territory [7 of 8]. The hemodynamic changes on SPECT in the PCA territory after surgery showed improved vascular reserve in 13 of the 16 territories. Conclusion : OA-EDAS is a safe and efficacious revascularization procedure in patients with MMD who have compromised cerebral perfusion in PCA territory, or with visual TIAs.

• Journal of Korean Neurosurgical Society
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• v.66 no.6
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• pp.642-651
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• 2023

Objective : Endothelial colony-forming cells (ECFCs) have been reported to play an important role in the pathogenesis of moyamoya disease (MMD). We have previously observed stagnant growth in MMD ECFCs with functional impairment of tubule formation. We aimed to verify the key regulators and related signaling pathways involved in the functional defects of MMD ECFCs. Methods : ECFCs were cultured from peripheral blood mononuclear cells of healthy volunteers (normal) and MMD patients. Low-density lipoproteins uptake, flow cytometry, high content screening, senescence-associated β-galactosidase, immunofluorescence, cell cycle, tubule formation, microarray, real-time quantitative polymerase chain reaction, small interfering RNA transfection, and western blot analyses were performed. Results : The acquisition of cells that can be cultured for a long time with the characteristics of late ECFCs was significantly lower in the MMD patients than the normal. Importantly, the MMD ECFCs showed decreased cellular proliferation with G1 cell cycle arrest and cellular senescence compared to the normal ECFCs. A pathway enrichment analysis demonstrated that the cell cycle pathway was the major enriched pathway, which is consistent with the results of the functional analysis of ECFCs. Among the genes associated with the cell cycle, cyclin-dependent kinase inhibitor 2A (CDKN2A) showed the highest expression in MMD ECFCs. Knockdown of CDKN2A in MMD ECFCs enhanced proliferation by reducing G1 cell cycle arrest and inhibiting senescence through the regulation of CDK4 and phospho retinoblastoma protein. Conclusion : Our study suggests that CDKN2A plays an important role in the growth retardation of MMD ECFCs by inducing cell cycle arrest and senescence.

• Korean Journal of Radiology
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• v.24 no.8
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• pp.784-794
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• 2023

Objective: To determine whether dynamic susceptibility contrast-enhanced (DSC) perfusion magnetic resonance imaging (MRI) can be used to evaluate posterior cerebral circulation in pediatric patients with moyamoya disease (MMD) who underwent anterior revascularization. Materials and Methods: This study retrospectively included 73 patients with MMD who underwent DSC perfusion MRI (age, 12.2 ± 6.1 years) between January 2016 and December 2020, owing to recent-onset clinical symptoms during the follow-up period after completion of anterior revascularization. DSC perfusion images were analyzed using a dedicated software package (NordicICE; Nordic NeuroLab) for the middle cerebral artery (MCA), posterior cerebral artery (PCA), and posterior border zone between the two regions (PCA-MCA). Patients were divided into two groups; the PCA stenosis group included 30 patients with newly confirmed PCA involvement, while the no PCA stenosis group included 43 patients without PCA involvement. The relationship between DSC perfusion parameters and PCA stenosis, as well as the performance of the parameters in discriminating between groups, were analyzed. Results: In the PCA stenosis group, the mean follow-up duration was 5.3 years after anterior revascularization, and visual disturbances were a common symptom. Normalized cerebral blood volume was increased, and both the normalized time-topeak (nTTP) and mean transit time values were significantly delayed in the PCA stenosis group compared with those in the no PCA stenosis group in the PCA and PCA-MCA border zones. TTP_PCA (odds ratio [OR] = 6.745; 95% confidence interval [CI] = 2.665-17.074; P < 0.001) and CBV_PCA-MCA (OR = 1.567; 95% CI = 1.021-2.406; P = 0.040) were independently associated with PCA stenosis. TTP_PCA showed the highest receiver operating characteristic curve area in discriminating for PCA stenosis (0.895; 95% CI = 0.803-0.986). Conclusion: nTTP can be used to effectively diagnose PCA stenosis. Therefore, DSC perfusion MRI may be a valuable tool for monitoring PCA stenosis in patients with MMD.

• Korean Journal of Digital Imaging in Medicine
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• v.12 no.1
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• pp.27-31
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• 2010

The purpose of this study was to investigated the usefulness of MR perfusion image comparing with SPECT image. A total of pediatric 30 patients(average age : 7.8) with Moyamoya disease were performed MR Perfusion with 32 channel body coil at 3T from March 01, 2010 to June 10, 2010. The MRI sequences and parameters were as followed : gradient Echo-planar imaging(EPI), TR/TE : 2000ms/50ms, FA : $90^{\circ}$, FOV : $240{\times}240$, Matrix : $128{\times}128$, Thickness : 5mm, Gap : 1.5mm. Images were obtained contrast agent administrated at a rate of 1mL/sec after scan start 10s with a total of slice 1000 images(50 phase/1 slice). It was measured with visual color image and digitize data using MRDx software(IDL version 6.2) and also, it was compared of measurement with values of normal and abnormal ratio to analyze hemodynamic change, and a comparison between perfusion MR with technique using Warm Color at SPECT examination. On MR perfusion examination, the color images from abnormal region to the red collar with rCBV(relative cerebral blood volume) and rCBF(relative cerebral blood flow) caused by increase cerebral blood flow with brain vascular occlusion in surrounding collateral circulation advancement, the blood speed relatively was depicted slowly with blue in MTT(Mean Transit Time) and TTP(Time to Peak) images. The region which was visible abnormally from MR perfusion examination visually were detected as comparison with the same SPECT examination region, would be able to confirm the identical results in MMD(Moyamoya disease)judgments. Hymo-dynamic change in MR perfusion examination produced by increase and delay cerebral blood flow. This change with digitize data and being color imaging makes enable to distinguish between normal and abnormal area. Relatively, MR perfusion examination compared with SPECT examination could bring an excellent image with spatial resolution without radiation expose.

• The Korean Journal of Nuclear Medicine
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• v.32 no.4
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• pp.314-324
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• 1998

Purpose: This study was performed to evaluate the outcome of encephalo-duro-arterio-synangiosis (EDAS) surgery with rest/acetazolamide Tc-99m HMPAO SPECT in moyamoya disease. Materials and Methods: Rost/acetazolamide subtraction SPECT with consecutive acquisition were done before and 2 months after 21 EDAS surgeries in 18 patients. Perfusion decrease was graded visually for 14 areas of each hemisphere as 0 (normal) to 3 (defect) using 4 point scoring system. Postoperative rest perfusion or perfusion reserve was compared with preoperative ones. Results: Among 294 areas of 21 hemispheres, rest perfusion abnormality was found in 91 areas of 15 hemispheres. Decrease of perfusion reserve was found in 146 areas of 18 hemispheres. Six hemispheres having normal rest perfusion and 12 of 15 hemispheres having rest perfusion abnormality showed reserve decrease. Three having rest perfusion defect did not change after acetazolamide in preoperative SPECT. After operation, 16 patients (89%) demonstrated clinical improvement. Fifteen among 18 hemispheres (83%) with decreased reserve improved. Rest perfusion abnormality improved in 6 among the 15 hemispheres (40%). The areas having rest perfusion and/or reserve decrease improved in 87 among 146 areas (60%). Decrease of reserve, improved in 85% (68/80). However, areas without reserve decrease also improved in 29% (19/66). The better was preoperative rest perfusion in involved areas or the more decreased vascular reserve, the more improved perfusion and reserve after operation. Conclusion: We conclude that assessment of perfusion and Perfusion reserve using rest/acetazolamide brain perfusion SPECT predict the surgical outcome in patients with moyamoya disease.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.40-44
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• 2019

Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease of unknown etiology characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. The clinical presentations of MMD include transient ischemic attacks (TIA), ischemic stroke, hemorrhagic stroke, seizures, headache, and cognitive impairment. MMD is the most important cause of stroke or TIA in children in East Asian countries. A 5-year-3-month old boy with MMD experienced cerebral infarctions five times. Cerebrovascular anastomosis surgery was performed on him four years ago. He had dysphagia, developmental delay, hemiplegia, and strabismus. Besides, a number of dental caries in primary dentition were identified during clinical oral examination. Dental treatment under general anesthesia using sevoflurane was performed due to his lack of cooperation and underlying systemic disease. MMD is associated with various medical diseases requiring thoughtful consideration during dental treatment. Crying and hyperventilation in MMD patients may cause hypocapnia and have a cerebral vasoconstrictive effect. If dental treatment is required, control of pain and anxiety is very important. General anesthesia may be considered for dental treatment in uncooperative or very young patients with MMD.

• Journal of Korean Neurosurgical Society
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• v.29 no.8
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• pp.1136-1139
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• 2000

• 대한핵의학회:학술대회논문집
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• 1988.05a
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• pp.124.2-124.2
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• 1988

• The Journal of Pediatrics of Korean Medicine
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• v.17 no.1
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• pp.87-97
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• 2003

Cerebrovascular disease in children is more common than once recognized and the etiology and prognosis of the disease in children are quite different from those of adults. In Korea, the most common cause of stroke is moyamoya disease in ischemic stroke, arteriovenous malformation in hemorrhagic stroke. We experienced two cases of ischemic stroke in childhood whose symptoms are similar to that of adults. They had cerebrovascular malformation(narrowing of ICA, MCA, basilar artery). we treated them with herb medicine, acupuncture treatment, laser acupuncture treatment and physical treatment. After treatment, they recovered from the stroke symptoms, but the primary cause of stroke was not eliminated, so it is thought that more follow up is needed. We report that we had good effects of oriental medical treatment on two case of cerebral infarction in children.