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        제주도에서 CADASIL 연구의 중요성: 역학, 진단 및 임상양상에 대한 고찰

        최재철,이정석,김기태,Choi, Jay Chol,Lee, Jung Seok,Kim, Kitae 제주대학교 의과학연구소 2020 The Journal of Medicine and Life Science Vol.17 No.3

        Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease of the cerebral small blood vessels caused by mutations in the NOTCH3 gene on chromosome 19. Although CADASIL was known as a rare disease, recent research has suggested that the NOTCH variants could be found frequently even in the general population. The main clinical features included recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive decline. On brain magnetic resonance imaging, patients with CADASIL showed multifocal white matter hyperintensity lesions, lacunar infarcts, microbleeds, and brain atrophy. Among them, lacunar infarcts and brain atrophy are important in predicting the clinical outcomes of patients with CADASIL. In the Jeju National University Hospital, we have diagnosed 213 CADASIL patients from 2004 to 2020. Most NOTCH3 mutations were located in exon 11 (94.4%), and p.Arg544Cys was the most common mutation. The mean age at diagnosis was 61.0±12.8 years. The most common presenting symptoms were ischemic stroke (24.4%), followed by cognitive impairment(15.0%), headache (8.9%), and dizziness(8.0%). Although the exact prevalence of CADASIL in Jeju is still unknown, the disease prevalence could be as high as 1% of the population considering the prevalence reported in Taiwan. Therefore, it is necessary to discover efficient biomarkers and genetic tests that can accurately screen and diagnose patients suspected of having CADASIL in this region. Ultimately, it is urgent to explore the exact pathogenesis of the disease to identify leading substances of treatment potential, and for this, multi-disciplinary research through active support from the Jeju provincial government as well as the national government is essential.

      • KCI등재

        인체 요골동맥과 경동맥의 혈액에코박동지수

        복태훈(Tae-Hoon Bok),콩치(Qi Kong),남권호(Kweon-Ho Nam),최재철(Jay Chol Choi),팽동국(Dong-Guk Paeng) 한국비파괴검사학회 2012 한국비파괴검사학회지 Vol.32 No.5

        본 논문에서는, 두 나이군의 인체 요골동맥과 경동맥에서 초음파 혈액 영상을 측정하여 혈액에코박동지수를 분석했고, 또한 뇌졸중 환자와 대조군의 요골동맥과 경동맥에서 초음파 혈액 영상을 측정하여 혈액에코박동지수를 비교했다. 요골동맥의 혈액에코박동지수는 젊은 세대와 나이 많은 세대가 각각 0.13±0.11, 0.16±0.03로 유사한 반면, 경동맥에서는 각각 0.70±0.21, 0.32±0.01로 젊은 세대에서 더 높게 나타났고, 피험자 별로 더 높은 분산을 보였다. 뇌졸중 환자와 대조군의 혈액에코박동지수는 요골동맥(0.22±0.02, 0.16±0.03)과 경동맥(0.35±0.02, 0.32±0.01) 모두 환자군에서 더 높게 나타났다. 이와 유사하게, 섬유소원 농도 역시 요골동맥과 경동맥 모두 대조군(264±38, 257±43 mg/dl)보다 환자군(336±61, 340±126 mg/dl)에서 더 높게 나타났다. 본 연구의 결과는 향후 적혈구 응집과 뇌졸중의 상관성에 대한 초음파 연구의 가능성을 제시하고 있으며, 적혈구 응집의 생체 내 측정은 임상학적으로 유용하게 활용될 수 있을 것으로 기대된다. In the present paper, the ultrasound blood images were measured at both the human radial artery(RA) and common carotid artery(CCA), depending on the age, and the pulsatility index of blood echogenicity(PIBE) was analyzed. In addition, the ultrasound blood images were measured at both RA and CCA of both the stroke patients and the control group, and PIBE was compared. PIBE of RA for the young group was similar with that for the old group (0.13±0.11 and 0.16±0.03). PIBE of CCA for the young group, however, was larger than that for the old group (0.70±0.21 and 0.32±0.01), and was more variable depending on the subject. Similarly, the fibrinogen concentrations of the patients (336±61 and 340±126 mg/dl) were more than that of the control group (264±38 and 257±43 mg/dl), for both RA and CCA. The results indicate the possibility of the ultrasonic test on the correlation between erythrocyte aggregation and stroke, and it is expected that the in-vivo EA measurement would be clinically useful.

      • KCI등재
      • KCI등재

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