• Neonatal Medicine
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• 제25권1호
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• pp.49-52
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• 2018

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease characterized by generalized elongation and tortuosity of the medium- to large-sized arteries, and other systemic connective tissue manifestations. To date, this disease entity has not been reported in Korea. We report a case of ATS diagnosed in a neonate who presented with severe elongation and tortuosity of the aorta and its major branches, as well as the intracranial arteries. Additionally, the patient presented with a tortuous dilatation of the inferior vena cava, an aneurysmal dilatation of the extra-hepatic bile ducts, and an inguinal and sliding hiatal hernia. The diagnosis was confirmed using DNA sequencing analysis, and the patient demonstrated a compound heterozygosity for two novel mutations (c.738delG [p.Gln247Serfs*33] and c.362T>C [p.Ile121Thr]) in exon 2 of the SLC2A10 gene. Genetic analysis also confirmed that both parents were heterozygous carriers of the responsible mutations. Owing to such clinical manifestations, ATS is often misdiagnosed as other connective tissue diseases including Loeys-Dietz syndrome, Marfan syndrome, and Ehlers-Danlos syndrome. In patients presenting with a high index of suspicion, thorough clinical evaluation and screening for ATS including computed tomography or magnetic resonance angiography and target gene analysis are necessary for early diagnosis and management.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.47-51
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• 2013

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-${\beta}$ receptor type 1 or 2. It is typically characterized by a triad of hypertelorism, cleft palate or bifid uvula, and arterial tortuosity with aneurysm or dissection. Characteristic vascular abnormalities such as tortuosity, aneurysms, dissections, and stenosis are the most severe complications of LDS and can occur in the neurovascular system. We report a 5-year-old boy who presented with headaches and neurovascular abnormalities and was diagnosed with LDS with a novel mutation of the TGFBR1 gene. It is the first Korean report of neurovascular abnormalities in LDS.

• Clinical and Experimental Pediatrics
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• 제54권6호
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• pp.272-275
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• 2011

A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection throughout the arterial tree. LDS is characterized by aggressive and rapid progression of aortic aneurysm. Therefore, the patients with distinct phenotype, marked aortic dilatation and aneurysm at early age should be suspected to be affected by LDS and rapid TGFBR gene analysis should be done. We report one child diagnosed as LDS due to typical phenotypes and two novel missense mutations of the TGFBR2 gene (c.1526G>T and c.1528A>T).

• Investigative Magnetic Resonance Imaging
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• 제22권3호
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• pp.150-157
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• 2018

Purpose: To assess associations between morphological characteristics of intracranial arteries in time-of-flight MR angiography (TOF-MRA) and atherosclerotic risk factors. Materials and Methods: From January 2014 to October 2015, a total of 129 patients (65 men and 64 women) without intracranial arterial stenosis > 50% were included in this study. All MRIs were performed using a 3T machine with 3D TOF-MRA sequences. We evaluated irregularity, tortuosity, and dilatation of intracranial arteries in maximal intensity projection (MIP) of TOF-MRA. Subjects' risk factors for atherosclerosis including history of hypertension and diabetes were collected by reviewing their medical records. Associations between morphological characteristics and each known atherosclerosis risk factor were examined using univariate regression analysis. Multivariate regression models were built to determine combined association between those risk factors and morphologic changes of intracranial arteries. Results: In multivariate analysis, hypertension (coefficient [95% CI]: 0.162 [0.036, 0.289], P = 0.012) and absence of diabetes (coefficient [95% CI]: -0.159 [-0.296, -0.023], P = 0.022) were associated with large diameter of intracranial arteries. Males (coefficient [95% CI]: 0.11 [-0.006, 0.23], P = 0.062) and higher age (coefficient [95% CI]: 0.003 [-0.001, 0.008], P = 0.138) had marginal association with increased diameter. Tortuosity was associated with old age (OR: 1.04 [1.02, 1.07], P < 0.001). Irregular contour of intracranial arteries was significantly associated with old age (OR: 1.05 [1.02, 1.09], P = 0.004), presence of diabetes (OR: 2.88 [1.36, 6.15], P = 0.0058), and previous ischemic stroke (OR: 3.91 [1.41, 11.16], P = 0.0092). Conclusion: Morphological characteristics (irregularity, tortuosity, dilatation) of intracranial arteries seen in TOF-MRA might be associated with atherosclerotic risk factors in subjects with no or mild stenosis.

• 한국전산유체공학회지
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• 제22권1호
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• pp.15-25
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• 2017

Swirl flow is often found in proximal coronary arteries, because the aortic valves can induce swirl flows in the coronary artery due to vortex formation. In addition, the curvature and tortuosity of arterial configurations can also produce swirl flows. The present study was performed to investigate fractional flow reserve alterations in a post-stenotic distal part due to the presence of pre-stenotic swirl flow by computational fluid dynamics analysis for virtual stenotic models by quantifying fractional flow reserve(FFR). Simplified stenotic coronary models were divided into those with and without pre-stenotic swirl flow. Various degrees of virtual stenosis were grouped into three grades: mild, moderate, and severe, with degree of stenosis of 0 ~ 40%, 50 ~ 60%, and 70 ~ 90%, respectively. In this study, three-dimensional computational hemodynamic simulations were performed under hyperemic conditions in virtual stenotic coronary models by coupling with a zero-dimensional lumped parameter model. The results showed that the influence of pre-stenotic swirl inflow is dominant on FFR alteration in mild stenosis, whereas stenosis is dominant on FFR alteration in moderate/severe stenosis. The decrease in FFR caused by swirl flow is more significant in mild stenosis than moderate/severe stenosis. Biomechanical modeling is useful for clinicians to provide insight for medical intervention strategies. This hemodynamic-based parameter study could play a critical role in the development of a non-invasive imaging-based strategy-support system for percutaneous transluminal angioplasty in cases of mild/moderate stenosis.

• Advances in nano research
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• 제8권3호
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• pp.255-264
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• 2020

Buckling and post-buckling cases are often occurred in aorta artery because it affected by higher pressure. Also, its stability has a vital importance to humans and animals. The loss of stability in arteries may lead to arterial tortuosity and kinking. In this paper, post-buckling analysis of aorta artery is investigated under axial compression loads on the basis of Euler-Bernoulli beam theory by using finite element method. It is known that post-buckling problems are geometrically nonlinear problems. In the geometrically nonlinear model, the Von Karman nonlinear kinematic relationship is employed. Two types of support conditions for the aorta artery are considered. The considered non-linear problem is solved by using incremental displacement-based finite element method in conjunction with Newton-Raphson iteration method. The aorta artery is modeled as a cylindrical tube with different average diameters. In the numerical results, the effects of the geometry parameters of aorta artery on the post-buckling case are investigated in detail. Nonlinear deflections and critical buckling loads are obtained and discussed on the post-buckling case.

• Journal of Korean Neurosurgical Society
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• 제53권4호
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• pp.213-217
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• 2013

Objective : Transradial angiography has become popular among many cardiologists as a diagnostic and therapeutic tool. However, transradial cerebral angiography is not utilized to the same extent. The purpose of this study is to present our experience regarding the usefulness of transradial cerebral angiography, especially in elderly patients. Methods : Between May 2011 and February 2012, a total of 126 cerebral angiographies were performed via a transradial approach in a single center. Of them, only 47 patients were over 60 years old. In our institution, we shifted the initial access from the right femoral artery to the right radial artery in all patients requiring cerebral angiography in 2011. We did not attempt radial access in 40 cases for variable reasons. Results : The procedural success rate was 92.2%. We have four failures of transradial angiography; two because of loop formations of the radial and brachial artery and two due to multiple puncture failures. All supra-aortic vessels were successfully catheterized. However, the selective catheterization rates of the left side distal vessels were lower, as success rates were 89.7% for the right internal carotid artery and 75% for the left internal carotid artery. Procedure-related vascular complications, such as puncture site hematoma, hand ischemia, pseudoaneurysm, arteriovenous fistula and arterial dissection were not observed in our series. However, intraprocedural thrombosis developed in one patient, which was resolved completely by intraarterial thrombolytic agents. Conclusion : With advancing patient's age, we believe that transradial cerebral angiography is a useful tool to decrease patient's discomfort and more effectively manage the vessel tortuosity.

• Journal of Korean Neurosurgical Society
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• 제64권1호
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• pp.60-68
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• 2021

Objective : Until recently, the transfemoral approach (TFA) was used as the primary method of arterial approach in acute ischemic stroke (AIS). However, TFA resulted in longer reperfusion times and worse outcomes in the mechanical thrombectomy (MT) of patients with complex aortic arches and significant carotid tortuosity. We found that the transradial approach (TRA) is a more favorable alternative approach for MT in such cases. Methods : We performed a retrospective review of our institutional database to identify 202 patients who underwent MT for AIS between February 2015 and December 2019. Patient characteristics, cause of TFA failure, procedure time, intra-procedural complications, and outcomes were recorded. Results : Eleven (5.4%) of 202 patients, who underwent MT for AIS, crossed over to TRA for recanalization, and eight (72%) of 11 achieved successful recanalization (≥modified Treatment in Cerebral Infarction 2b). The mean age (mean±standard deviation [median]) was 82.3±6.6 (76) years, and five of the 11 patients were male. The last seen normal to puncture time was 467.9±264.72 (264) minutes; baseline National Institutes of Health Stroke Scale score was 28.9±14.5 (16). Six (55%) of the 11 patients had right vertebrobasilar occlusions, and the remaining five (45%) had anterior circulation occlusive disease. The time from groin puncture to final recanalization time (overall procedural time) was 78.0±20.1 (62) minutes. The mean crossover time from TFA to TRA was 45.2±10.5 (41) minutes. The mean time from radial puncture to final recanalization was 33.8±10.5 (28) minutes. Distal thrombus migration events in previously unaffected territories occurred in 3/8 patients (37%). At 90 days, three patients (28%) had a favorable clinical outcome. Conclusion : Although rare, failure of TFA has been known to occur during MT for AIS. Our results demonstrate that TRA may be an alternative option for AIS intervention for select patients with subsequent timely revascularization. However, the incidence of distal thrombus migration was high, and the first puncture to reperfusion time was prolonged because of the time taken for the crossover to TRA after failure of TFA. This study provides some evidence that the TRA may be a viable alternative option to the TFA for MT of AIS.

• Journal of Chest Surgery
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• 제42권5호
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• pp.639-644
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• 2009

대동맥 동맥류/대동맥 박리증, 두눈먼거리증, 목젖갈림증/입천장갈림증, 그리고 동맥혈관계의 이상과다 뒤틀림 등을 독특한 표현형으로 하는 Loeys-Dietz 증후군은 새로이 기술된 공격적 성향의 결체 조직 질환으로, transforming growth factor-$\beta$ receptor type 1 또는 type 2를 encoding 하는 유전자 돌연 변이가 발병 원인이다. Loeys-Dietz 증후군은 Marfan 증후군, Ehlers-Danlos 증후군 4형 등의 표현형과 일부 비슷한 형태를 공유한다. 그러나, Loeys-Dietz 증후군은 다른 질환보다 더 심한 병태생리적 특성을 가지고 있기 때문에, 임상의들은 이들 결체 조직 질환들을 감별하여야 한다. 강한 의심, 조기 진단, 예방적 수술, 그리고 지속적 영상 검사가 적절한 Loeys-Dietz 증후군 치료를 위해 실행되어야 한다. 저자들은 대동맥 파열, 목젖갈림증, 그리고 두눈먼거리증의 3징후를 가진 Loeys-Dietz 증후군의 환자를 경험하였기에 문헌고찰과 함께 보고하는 바이다.