• Journal of Korean Neurosurgical Society
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• 제57권6호
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• pp.422-427
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• 2015

Moyamoya disease (MMD) is a chronic, progressive, cerebrovascular occlusive disorder that displays various clinical features and results in cerebral infarct or hemorrhagic stroke. Specific genes associated with the disease have not yet been identified, making identification of at-risk patients difficult before clinical manifestation. Familial MMD is not uncommon, with as many as 15% of MMD patients having a family history of the disease, suggesting a genetic etiology. Studies of single nucleotide polymorphisms (SNPs) in MMD have mostly focused on mechanical stress on vessels, endothelium, and the relationship to atherosclerosis. In this review, we discuss SNPs studies targeting the genetic etiology of MMD. Genetic analyses in familial MMD and genome-wide association studies represent promising strategies for elucidating the pathophysiology of this condition. This review also discusses future research directions, not only to offer new insights into the origin of MMD, but also to enhance our understanding of the genetic aspects of MMD. There have been several SNP studies of MMD. Current SNP studies suggest a genetic contribution to MMD, but further reliable and replicable data are needed. A large cohort or family-based design would be important. Modern SNP studies of MMD depend on novel genetic, experimental, and database methods that will hopefully hasten the arrival of a consensus conclusion.

• 한국콘텐츠학회논문지
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• 제20권3호
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• pp.687-694
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• 2020

스티로폼은 각종 포장용기, 장난감, 부표 등 일상에서 흔히 사용되는 소재 중 하나이며, 범죄현장에서 발견 될 가능성 또한 매우 높다. 하지만 스티로폼은 구조적인 특성으로 인해 지문이 거의 남지 않아 지문 현출 기법의 효과가 크지 않다. 선행연구에 따르면 스티로폼에서의 지문 현출 방법으로 주로 분말법이나 CA 훈증법(Cyanoacrylate fuming method)을 제시하고 있다. 본 연구에서는 분말법과 MMD I의 비교 실험을 통해 MMD I의 잠재지문 현출 효과를 알아보고자 하였다. 스티로폼에 지문을 유류한 뒤 1일, 3일, 5일, 1주, 2주, 3주 경과한 검체를 분말법과 MMD I을 적용한 결과, MMD I은 지문 aging 기간에 구애받지 않고 전반적으로 매우 우수한 현출 결과를 보인 반면 분말법은 오래된 지문일수록 현출되지 않았으며 신선한 지문에서도 매우 낮은 품질의 지문이 현출되었다. MMD I은 비용과 시간이 들고, 기법이 다소 어렵다는 단점이 존재한다. 하지만 MMD I이 스티로폼 표면의 신선한 지문과 오래된 지문을 현출하는데 매우 효과적인 것으로 나타났다.

• Journal of Korean Neurosurgical Society
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• 제62권2호
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• pp.136-143
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• 2019

Moyamoya disease (MMD) is a progressive cerebrovascular disease with unknown etiology, characterized by bilateral steno-occlusive changes at the terminal portion of the internal carotid artery and an abnormal vascular network formation at the base of the brain. MMD has an intrinsic nature to convert the vascular supply for the brain from internal carotid (IC) system to the external carotid (EC) system, as indicated by Suzuki's angiographic staging. Insufficiency of this 'IC-EC conversion system' could result not only in cerebral ischemia, but also in intracranial hemorrhage from inadequate collateral anastomosis, both of which represent the clinical manifestation of MMD. Surgical revascularization prevents cerebral ischemic attack by improving cerebral blood flow, and recent evidence further suggests that extracranial-intracranial bypass could powerfully reduce the risk of re-bleeding in MMD patients with posterior hemorrhage, who were known to have extremely high re-bleeding risk. Although the exact mechanism underlying the hemorrhagic presentation in MMD is undetermined, most recent angiographic analysis revealed the characteristic angio-architecture related to high re-bleeding risk, such as the extension and dilatation of choroidal collaterals and posterior cerebral artery involvement. We sought to update the current management strategy for hemorrhagic MMD, including the outcome of surgical revascularization for hemorrhagic MMD in our institute. Further investigations will clarify the optimal surgical strategy to prevent hemorrhagic manifestation in patients with MMD.

• Journal of Korean Neurosurgical Society
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• 제66권6호
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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.

• Journal of Korean Neurosurgical Society
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• 제46권6호
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• pp.558-563
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• 2009

Objective : Moyamoya disease (MMD) is an uncommon cerebrovascular disorder, characterized by progressive occlusion at the terminal portion of the internal carotid artery. Incidence of the disease is high in East Asia and familial MMD accounts for about 15% of the disease. Although the pathogenesis is unknown, association of HLA class I or II alleles with MMD has been reported with conflicting results. We investigated whether there is a difference in HLA class II association between familial and non-familial forms of the disease. Methods : A total of 70 Korean children with MMD, including 16 familial cases (10 probands), and 207 healthy controls were studied. Among familial cases, only 10 probands were used for the HLA frequency analysis. High resolution HLA-DRB1 and DQB1 genotyping was performed using polymerase chain reaction (PCR)-sequence specific oligonucleotide hybridization and PCR-single strand conformation polymorphism methods. Results : The phenotype frequencies of HLA-DRB1*1302 (70.0%) and DQB1*0609 (40.0%) were significantly increased in familial MMD compared to both controls [vs. 15.5%, corrected p ($p_c$) = 0.008, odds ratio (OR) = 12.76; vs. 4.3%, $p_c\;=\;0.02$, OR = 14.67] and non-familial MMD patients (vs. 14.8%, $p_c\;=\;0.02$, OR = 13.42; vs. 1.9%, $p_c\;=\;0.02$, OR = 35.33). The frequencies of DRB1 and DQB1 alleles in non-familial MMD patients were not significantly different from those in controls. Conclusion : Our findings suggest that the genetic polymorphism of HLA class II genes or other closely linked disease relevant gene(s) could be a genetic predisposing factor for familial MMD.

• Journal of Korean Neurosurgical Society
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• 제30권6호
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• pp.800-804
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• 2001

MMD의 외과적 치료에서 소아에서는 직접 및 간접적인 혈관문합술을 병합하거나 아니면 간접적인 혈관문합술들을 병합하여 시행하는 경향이 있고, 성인에서는 혈관의 직경이나 MMD의 진행속도로 보아 STA-MCA 문합술과 같은 직접적인 수술이 많이 활용되고 있으나, 소아나 성인에서나 모두 공통적으로 보다 넓은 뇌표면에 여러 가지 수술방법을 병합하는 것이 좀더 광범위한 범위에 뇌혈류 공급을 증가 시키는데 도움이 된다고 보는 경향이다. 수술의 적응증은 혈관조영상에서의 나타난 질병의 정도보다는 acetazolamide를 이용한 PET 나 SPECT 검사로서 뇌혈류 예비량에 기준을 두고 있는 현상이 혈류 역학적으로도 합리적인 것으로 보인다. 수술후 합병증을 줄이려면 수술중에 정상탄산, 정상체온, 정상혈압을 유지 시킴과 동시에, 수술직후 통증관리도 철저히 하는 것이 매우 중요하다.

• Journal of Korean Neurosurgical Society
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• 제63권1호
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• pp.69-79
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• 2020

Objective : To analyze trends in the incidence and treatment of diseases associated with ischemic stroke, namely, cerebral infarction (CI), cerebral arterial stenosis (CASTN), and moyamoya disease (MMD), based on Korean National Health Insurance Service (NHIS) data from 2008 to 2016. Methods : Data was extracted from the national health-claim database provided by the NHIS for 2008-2016 using International Classification of Diseases codes. The crude and age-standardized incidences of each disease (CI, CASTN without a history of CI, and MMD) were calculated; additional analyses were conducted according to age and sex. Trends in the number of patients undergoing treatment according to treatment method were analyzed for each disease using the Korean Classification of Diseases procedure codes. Results : In 2016, the total number of adults with newly diagnosed CI was 83939, reflecting a 9.4% decrease from that in 2008. The age-standardized incidence of CI in adults was 153.2 per 100000 person-years in 2016, reflecting a 37.2% decrease from that in 2008, while that of CASTN was 167.3 per 100000 person-years in 2016, reflecting a 73.3% increase from that in 2008. Among treated cases, the number of patients who underwent intra-arterial (IA) treatment, including IA fibrinolysis and mechanical thrombectomy, showed the most prominent increase, increasing at an annual rate of 25.8%. For CASTN, the number of cases treated with carotid artery stenting or balloon angioplasty (CAS) showed the most prominent increase, increasing at a rate of 69.8% over the 9-year period. For MMD, the total number of patients with newly diagnosed MMD and that with adult MMD demonstrated significantly increasing trends, while the number of pediatric patients with newly diagnosed MMD declined by 18.0% over the 9-year period. The age-standardized incidences of pediatric and adult MMD in 2016 were 2.4 and 3.4 per 100000 person-years, respectively. Conclusion : Although the incidence of CI showed a declining trend over a 9-year period, the number and proportion of patients treated for CI increased. Meanwhile, the incidence of CASTN and the number of patients treated for CASTN have demonstrated increasing trends since 2008. On the other hand, the number of patients diagnosed with pediatric MMD decreased, despite no significant change in the incidence. In contrast, the number of patients and the incidence of adult MMD increased. These trends reflect changes in the population structure, gains in the accessibility of imaging examinations, and the development of endovascular techniques.

• Journal of Korean Neurosurgical Society
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• 제57권6호
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• pp.436-439
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• 2015

The majority of clinical studies on moyamoya disease (MMD) have focused on anterior circulation. The disease involvement of posterior circulation in MMD, mainly in the posterior cerebral artery (PCA), has been mentioned since the early 1980s, and it has been repeatedly emphasized as one of the most important factors related to poor prognosis in MMD. However, its clinical features and outcome have only been elucidated during the last few years. In this review, the angiographic definition of PCA stenosis is summarized. The clinical features are elucidated as being either early-onset or delayed-onset, according to the time of PCA stenosis diagnosis in reference to the anterior circulation revascularization surgeries. The surgical strategy and hypothesis on the mechanism of PCA stenosis is also briefly mentioned. It appears that some MMD patients may show PCA stenosis during the early or late course of the disease and that the presenting symptoms may vary. Because the hemodynamic compromise caused by PCA stenosis may respond well to surgical treatment, clinicians should be aware of the condition, especially during follow-up of MMD patients.

• Journal of Korean Neurosurgical Society
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• 제56권6호
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• pp.492-495
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• 2014

A ruptured distal lenticulostriate artery (LSA) aneurysm is detected occasionally in moyamoya disease (MMD) patients presented with intracerebral hemorrhage. If the aneurysm is detected in hemorrhage site on angiographic evaluation, its obliteration could be considered, because it rebleeds frequently, and is associated with poorer outcome and mortality in MMD related hemorrhage. In this case report, the authors present two MMD cases with ruptured distal LSA aneurysm treated by endovascular embolization.

• Journal of Korean Neurosurgical Society
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• 제49권1호
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• pp.65-67
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• 2011

The detailed clinical characteristics of unilateral moyamoya disease (MMD) have not been fully elucidated. It has been reported that some patients with unilateral MMD progress to bilateral involvement, while others remain with the unilateral variant In this series, we present a case of unilateral MMD that progressed to bilateral involvement over the course of just one month.