• Genomics & Informatics
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• 제19권4호
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• pp.38.1-38.7
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• 2021

Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of 159 patients with KD and 902 controls, and performed a replication study in an independent 586 cases and 732 controls. We identified five rare coding variants in five genes (FCRLA, PTGER4, IL17F, CARD11, and SIGLEC10) associated with KD (odds ratio [OR], 1.18 to 4.41; p = 0.0027-0.031). We also performed association analysis in 26 KD patients with coronary artery aneurysms (CAAs; diameter > 5 mm) and 124 patients without CAAs (diameter < 3 mm), and identified another five rare coding variants in five genes (FGFR4, IL31RA, FNDC1, MMP8, and FOXN1), which may be associated with CAA (OR, 3.89 to 37.3; p = 0.0058- 0.0261). These results provide insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.

• Journal of Korean Neurosurgical Society
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• 제67권2호
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• pp.166-176
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• 2024

Objective : Three-dimensional (3D) printing in vascular surgery is trending and is useful for the visualisation of intracranial aneurysms for both surgeons and trainees. The 3D models give the surgeon time to practice before hand and plan the surgery accordingly. The aim of this study was to examine the effect of preoperative planning with 3D printing models of aneurysms in terms of surgical time and patient outcomes. Methods : Forty patients were prospectively enrolled in this study and divided into two groups : groups I and II. In group I, only the angiograms were studied before surgery. Solid 3D modelling was performed only for group II before the operation and was studied accordingly. All surgeries were performed by the same senior vascular neurosurgeon. Demographic data, surgical data, both preoperative and postoperative modified Rankin scale (mRS) scores, and Glasgow outcome scores (GOS) were evaluated. Results : The average time of surgery was shorter in group II, and the difference was statistically significant between the two groups (p<0.001). However, no major differences were found for the GOS, hospitalisation time, or mRS. Conclusion : This study is the first prospective study of the utility of 3D aneurysm models. We show that 3D models are useful in surgery preparation. In the near future, these models will be used widely to educate trainees and pre-plan surgical options for senior surgeons.

• 대한영상의학회지
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• 제81권3호
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• pp.726-732
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• 2020

신경섬유종증 1형은 상염색체우성질환으로 가장 흔한 유전 질환 중 하나이다. 혈관병증은 드물게 발생할 수 있으며, 신경섬유종증 1형 혈관병증은 동맥류, 협착, 동정맥기형의 형태로 나타난다. 동맥류의 경우 자연파열과 같은 치명적인 합병증을 유발할 수 있다. 신경섬유종증 1형과 연관된 하장간막동맥류의 파열로 인한 장간막출혈은 매우 드물게 보고되고 있다. 이에 저자들은 신경섬유종증 1형에 의한 방추형 상직장동맥류의 자발적 파열로 내원한 56세 여성환자에서 코일을 이용한 경도관 동맥 색전술을 시행하여 성공적으로 치료한 1예를 경험하였기에 이를 보고하고자 한다.

• 대한영상의학회지
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• 제81권4호
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• pp.945-952
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• 2020

하췌십이지장동맥 동맥류는 드물다. 진성 하췌십이지장동맥 동맥류의 약 50%가 복강동맥의 협착 또는 폐색과 관련이 있는 것으로 알려져 있다. 하췌십이지장동맥 동맥류는 발견되는 즉시 치료해야 하는데, 파열 시 사망률이 50%에 이르기 때문이다. 최근에 가장 널리 쓰이는 치료법은 카테터 경유 동맥 색전술이다. 저자들은 복강동맥의 협착 또는 폐쇄를 동반한 하췌십이지장동맥 동맥류를 색전술로 치료한 세 개의 증례를 소개하고, 이에 대한 문헌을 고찰하고자 한다.

• 대한영상의학회지
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• 제81권5호
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• pp.1204-1209
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• 2020

흉부 대동맥 미분화성 다형성 육종은 매우 드문 질환으로 색전 사례, 신혈관성 고혈압, 등 통증 등의 증상을 보일 수 있다. 특히 대동맥 벽에서 기원하여 소낭 동맥류 파열로 보고된 경우는 극히 드물며 진균성 동맥류나 관통성 죽상경화 궤양과 감별이 어렵다. 이에 저자들은 소낭성 동맥류 파열로 혈관 내 흉부 대동맥 치료를 시행한 후 종괴가 발생하여 수술적 생검으로 확진된 미분화성 다형성 육종의 전산화단층촬영과 양전자방출단층촬영 소견을 보고하고자 하며 이를 통해 정확한 진단과 적절한 치료에 도움을 주고자 한다.

• Korean Journal of Radiology
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• 제23권1호
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• pp.101-111
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• 2022

Objective: Familial intracranial aneurysms (FIAs) are found in approximately 6%-20% of patients with intracranial aneurysms (IAs), suggesting that genetic predisposition likely plays a role in its pathogenesis. The aim of this study was to identify possible IA-associated variants using whole exome sequencing (WES) in selected Korean families with FIA. Materials and Methods: Among the 26 families in our institutional database with two or more IA-affected first-degree relatives, three families that were genetically enriched (multiple, early onset, or common site involvement within the families) for IA were selected for WES. Filtering strategies, including a family-based approach and knowledge-based prioritization, were applied to derive possible IA-associated variants from the families. A chromosomal microarray was performed to detect relatively large chromosomal abnormalities. Results: Thirteen individuals from the three families were sequenced, of whom seven had IAs. We noted three rare, potentially deleterious variants (PLOD3 c.1315G>A, NTM c.968C>T, and CHST14 c.58C>T), which are the most promising candidates among the 11 potential IA-associated variants considering gene-phenotype relationships, gene function, co-segregation, and variant pathogenicity. Microarray analysis did not reveal any significant copy number variants in the families. Conclusion: Using WES, we found that rare, potentially deleterious variants in PLOD3, NTM, and CHST14 genes are likely responsible for the subsets of FIAs in a cohort of Korean families.

• Journal of Korean Neurosurgical Society
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• 제67권1호
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• pp.42-49
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• 2024

Objective : There is still controversy regarding whether neck remodeling stent affects the occurrence of silent embolic infarction (SEI) after aneurysm coiling. Thus, the aim of the present study is to investigate the incidence of SEI after stent-assisted coiling (SAC) using Neuroform Atlas Stent (NAS) and possible risk factors. This study also includes a comparison with simple coiling group during the same period to estimate the impact of NAS on the occurrence of SEI. Methods : This study included a total of 96 unruptured intracranial aneurysms in 96 patients treated with SAC using NAS. Correlations of demographic data, aneurysm characteristics, and angiographic parameters with properties of SEI were analyzed. The incidence and characteristics of SEI were investigated in 28 patients who underwent simple coiling during the same period, and the results were compared with the SAC group. Results : In the diffusion-weighted imaging obtained on the 1st day after SAC, a total of 106 SEI lesions were observed in 48 (50%) of 96 patients. Of these 48 patients, 38 (79.2%) had 1-3 lesions. Of 106 lesions, 74 (69.8%) had a diameter less than 3 mm. SEI occurred more frequently in older patients (≥60 years, p=0.013). The volume of SEI was found to be significantly increased in older age (≥60 years, p=0.032), hypertension (p=0.036), and aneurysm size ≥5 mm (p=0.047). The incidence and mean volume of SEI in the SAC group (n=96) were similar to those of the simple coiling group (n=28) during the same period. Conclusion : SEIs are common after NAS-assisted coiling. Their incidence in SAC was comparable to that in simple coiling. They occurred more frequently at an older age. Therefore, the use of NAS in the treatment of unruptured intracranial aneurysm does not seem to be associated with an increased risk of thromboembolic events if antiplatelet premedication has been performed well.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• 제25권1호
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• pp.62-68
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• 2023

The treatment of complicated anterior cerebral artery aneurysms remains challenging. Here, the authors describe a case of ruptured complicated A3 aneurysm, which was treated with trapping and in-situ bypass. A 47-year-old man presented to the emergency department with severe headache and vomiting. Computed tomography illustrated acute intracerebral hemorrhage in the right frontal lobe. Digital subtraction angiography (DSA) confirmed a ruptured fusiform A3 aneurysm with lobulation and a daughter sac. Trapping of the ruptured fusiform A3 aneurysm and distal end-to-side A4 anastomosis was performed. DSA on postoperative day 7 showed mild vasospasm to the afferent artery. However, 2 months later, DSA demonstrated that the antegrade flow through the anastomosis site had recovered. Thus, surgeons should be aware of the possibility of postsurgical vasospasm of anastomosed arteries, especially in cases of ruptured aneurysms.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• 제25권3호
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• pp.275-287
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• 2023

Objective: Flow diverting stents (FDS) are a validated device in the treatment of intracranial aneurysms, allowing for minimally invasive intervention. However, after its approval for use in the United States in 2011, post-market surveillance of adverse events is limited. This study aims to address this critical knowledge gap by analyzing the FDA Manufacturer and User Facility Device Experience (MAUDE) database for patient and device related (PR and DR) reports of adverse events and malfunctions. Methods: Using post-market surveillance data from the MAUDE database, PR and DR reports from January 2012-December 2021 were extracted, compiled, and analyzed with R-Studio version 2021.09.2. PR and DR reports with insufficient information were excluded. Raw information was organized, and further author generated classifications were created for both PR and DR reports. Results: A total of 2203 PR and 4017 DR events were recorded. The most frequently reported PR adverse event categories were cerebrovascular (60%), death (11%), and neurological (8%). The most frequent PR adverse event reports were death (11%), thrombosis/thrombus (9%) cerebral infarction (8%), decreased therapeutic response (7%), stroke/cerebrovascular accident (6%), intracranial hemorrhage (5%), aneurysm (4%), occlusion (4%), headache (4%), neurological deficit/dysfunction (3%). The most frequent DR reports were activation/positioning/separation problems (52%), break (9%), device operates differently than expected (4%), difficult to open or close (4%), material deformation (3%), migration or expulsion of device (3%), detachment of device or device component (2%). Conclusions: Post-market surveillance is important to guide patient counselling and identify adverse events and device problems that were not identified in initial trials. We present frequent reports of several types of cerebrovascular and neurological adverse events as well as the most common device shortcomings that should be explored by manufacturers and future studies. Although inherent limitations to the MAUDE database are present, our results highlight important PR and DR complications that can help optimize patient counseling and device development.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• 제25권1호
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• pp.19-27
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• 2023

Objective: The purpose of this study was to determine the efficacy of a 3D-printed aneurysm simulation model (3DPM) in educating patients and improving physicians' comprehension and performance. Methods: This prospective study involved 40 patients who were diagnosed with unruptured intracranial aneurysms (UIAs) and scheduled for surgical clipping or endovascular coiling and randomly divided into two groups (the 3DPM group and the non-3DPM group). The 3DPM was used in preoperative consultation with patients and intraoperatively referenced by surgeons. The patients, 7 neurosurgical residents, and 10 surgeons completed questionnaires (5-point Likert scale) to determine the usefulness of the 3DPM. Results: Patients in the 3DPM group had significantly higher scores in terms of their understanding of the disease (mean 4.85 vs. 3.95, p<0.001) and the treatment plan (mean 4.85 vs. 4.20, p=0.005) and reported higher satisfaction during consultation (5.0 vs. 4.60, p=0.036) than patients in the non-3DPM group. During patient consultation, 3DPMs were most useful in improving doctor-patient communication (mean 4.57, range 4-5). During clipping surgery, the models were most useful in assessing adjacent arteries (mean 4.9, range 4-5); during endovascular coiling, they were especially helpful in microcatheter shaping (mean 4.7, range 4-5). Conclusions: In general, 3DPMs are beneficial in educating patients and improving the physician's performance in terms of surgical clipping and endovascular coiling of UIAs.