• Journal of Medicine and Life Science
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• 제17권3호
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• pp.65-73
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• 2020

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.

• 대한한의학회지
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• 제21권4호
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• pp.286-291
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• 2000

Behcet's disease is a systemic disease affecting multiple organs including the central nervous system. Neuro-Behcet's disease was regarded as relatively rare, but thanks to the development of diagnostic tools, more and more cases are being reported. We are reporting a case of neuro-Behcet's disease in which the patient displayed paraparesis, dysarthria and involuntary tremor as neurologic symptoms. The patient's brain MRI showed cerebellar atrophy, and a spinal cord MRI failed to reveal any significant lesions. The patient experienced a couple of fever attacks during hospitalization, which were managed adequately by herbal medicines. Her main neurological symptoms such as paraparesis were, however, grossly unchanged at discharge.

• Clinical and Experimental Pediatrics
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• 제46권3호
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• pp.295-301
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• 2003

출생 이후 머리둘레가 커지는 1개월 남아에게서 뇌초음파 검사상 지주막하 공간이 확장되어 있고 백질의 음영이 증가 되어 있었고 뇌 MRI 소견은 실비우스열의 확장과 양측 대뇌, 소뇌 피질과 백질이 T1 강조 영상에서 저신호 강도와 T2 강조영상에서 고신호 강도를 보였으며 경피생검으로 얻은 섬유아세포 배양에서 glutaryl-CoA 탈수소효소의 활성도가 전혀 없어 GA1을 확진하게 되었다. 대두증이 있는 신생아나 영아에서 전측두엽 위축의 신경방사선학적 징후가 있으면 우선적으로 GA1을 의심해 보아야 한다. 이후 특수분유인 Glutatex 분유의 수유와 카르니틴, 리보플라빈 보충요법을 시행하여 대사성 위기나 급성 뇌증의 위기 없이 양호한 발달을 하고 있는 환아를 경험하였기에 보고하는 바이다.

• Fisheries and Aquatic Sciences
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• 제25권3호
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• pp.117-139
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• 2022

Synucleinopathies such as Parkinson's disease (PD) are incurable neurodegenerative conditions characterised by the abnormal aggregation of α-synuclein protein in neuronal cells. In PD, fibrillary synuclein aggregation forms Lewy bodies and Lewy neurites in the substantia nigra and cortex on the brain. Dementia with Lewy bodies and multiple system atrophy are also associated with α-synuclein protein abnormalities. α-synuclein is one of three synuclein proteins, and while its precise function is still unknown, one hypothesis posits that α-synuclein propagates from the enteric nervous system through the vagus nerve and into the brain, resulting in synucleinopathy. Studies on synucleinopathies should thus encompass not only the central nervous system but must necessarily include the gut and microbiome. The zebrafish (Danio rerio) is a well-established model for human neuronal pathologies and have been used in studies ranging from genetic models of hereditary disorders to neurotoxin-induced neurodegeneration as well as gut-brain-axis studies. There is significant genetic homology between zebrafish and mammalian vertebrates which is what makes the zebrafish so amenable to modelling human conditions but in the case of synucleinopathies, the zebrafish notably does not possess an α-synuclein homolog. Synuclein orthologs are present in the zebrafish however, and transgenic zebrafish that carry human α-synuclein have been generated. In addition, the zebrafish is a highly advantageous model and ideal replacement for reducing the use of mammalian models. This review discusses the application of the zebrafish as a model for synucleinopathies in efforts to further understand synuclein function and explore therapeutic strategies.

• 대한한방소아과학회지
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• 제19권2호
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• pp.41-50
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• 2005

저자는 Brain MRI 상 Cerebellar atrophy로 인한 척수소뇌성 운동실조증으로 진단받은 6세 환아의 Ataxia, Dysarthria, 두부진전증(頭部振顫症), 안진(眼振) 등에 대해 한방적 치료 후 호전도가 있었기에 이에 증례보고(證例報告)하는 바이다. 특히 두진(頭振), 안진(眼振)과 같은 진전(振顫)질환과 실조증에 대하여 두침(頭鍼)시술이 유효성이 컸으며, 오지(五遲) 오연증(五軟證)에 대하여서 간(肝), 신정격(腎正格)과 육미지황탕(六味地黃湯)의 장기 투여가 효과가 있었다. 일반적인 SCA, ADCA가 청, 장년기 이후에 발생하고 유전적인 경향이 큰 것에 반해 재태(在胎)시 큰 이상없이 생후 특발적으로 발생한 척수 소뇌성 운동실조에 대하여서는 한방적으로 증례보고(證例報告) 된 바가 드문 실정으로 유, 소아의 이러한 질환에 대한 진일보된 연구과 함께 평가척도나 치료방법적인 면에서의 고찰(考察)이 더욱 필요하리라 사료된다.

• Annals of Clinical Neurophysiology
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• 제22권1호
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• pp.33-36
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• 2020

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with numerous causes that include genetic factors. Efforts to reveal the genetics of ALS have identified several candidate genes that are associated with familial and sporadic ALS. Here we report a Korean ALS patient who showed prominent upper motor-neuron-related symptoms with marked brain atrophy and neuropsychological deficits. The findings were highly suggestive of ALS in a patient with a likely pathogenic FIG4 variant.

• Journal of Yeungnam Medical Science
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• 제40권3호
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• pp.225-232
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• 2023

Cognitive dysfunction is relatively less considered a complication of hypertension. However, there is sufficient evidence to show that high blood pressure in middle age increases the risk of cognitive decline and dementia in old age. The greatest impact on cognitive function in those with hypertension is on executive or frontal lobe function, similar to the area most damaged in vascular dementia. Possible cognitive disorders associated with hypertension are vascular dementia, Alzheimer disease, and Lewy body dementia, listed in decreasing strength of association. The pathophysiology of cognitive dysfunction in individuals with hypertension includes brain atrophy, microinfarcts, microbleeds, neuronal loss, white matter lesions, network disruption, neurovascular unit damage, reduced cerebral blood flow, blood-brain barrier damage, enlarged perivascular damage, and proteinopathy. Antihypertensive drugs may reduce the risk of cognitive decline and dementia. Given the high prevalence of dementia and its impact on quality of life, treatment of hypertension to reduce cognitive decline may be a clinically relevant intervention.

• 한국통신학회논문지
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• 제25권7A호
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• pp.1006-1016
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• 2000

본 논문은 뇌의 자기공명영상에서 백질과 회백질 및 뇌척수액을 분리하고 각각의 체적을 산철하기 위한 것이다. 본 연구는 먼저 뇌의 자기공명영상에서 영상의 배경을 제거한 후 외피 및 지방층으로부터 뇌 영역 전체를 분리하였으며, 부분체적의 문제(partial volume artifact)에 의해 명암 값의 번짐 현상을 보이는 뇌의 내부 영역에서 자기 공명영상의 생성원리를 근거로 명암 값의 산술적인 해석을 통해 원래의 단면 안에 존재하던 각 성분의 부분체적을 산출하였다. 산출된 백질과 회백질 및 뇌척수액의 부분체적은 번짐 현상을 보이는 자기공명영상에서 각 성분을 분리하기 위한 판별값을 경정하기 위해 사용되었고, 최종적으로 백질과 회백질 및 뇌척수액의 체적을 산출하도록 하였다. 본 연구는 뇌의 위축을 보이지 않는 정상인의 자기공명영상을 대상으로 하였으며, 향후 이러한 연구 결과는 알쯔하이머 병이나 뇌성마비등과 같은 퇴행성 뇌 질환 환자의 뇌 위축정도를 객관적으로 진단하는 방법으로 사용 될 수 있다.

• Journal of Korean Neurosurgical Society
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• 제57권4호
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• pp.271-275
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• 2015

Objective : Chronic subdural hematoma (CSDH) is a rare complication of unruptured aneurysm clipping surgery. The purpose of this study was to identify the incidence and risk factors of postoperative CSDH after surgical clipping for unruptured anterior circulation aneurysms. Methods : This retrospective study included 518 patients from a single tertiary institute from January 2008 to December 2013. CSDH was defined as subdural hemorrhage which needed surgical treatment. The degree of brain atrophy was estimated using the bicaudate ratio (BCR) index. We used uni- and multivariate analyses to identify risk factors correlated with CSDH. Results : Sixteen (3.1%) patients experienced postoperative CSDH that required burr hole drainage surgery. In univariate analyses, male gender (p<0.001), size of aneurysm (p=0.030), higher BCR index (p=0.004), and the use of antithrombotic medication (p=0.006) were associated with postoperative CSDH. In multivariate analyses using logistic regression test, male gender [odds ratio (OR) 4.037, range 1.287-12.688], high BCR index (OR 5.376, range 1.170-25.000), and the use of antithrombotic medication (OR 4.854, range 1.658-14.085) were associated with postoperative CSDH (p<0.05). Postoperative subdural fluid collection and arachnoid plasty were not showed statistically significant difference in this study. Conclusion : The incidence of CSDH was 3.1% in unruptured anterior circulation aneurysm surgery. This study shows that male gender, degree of brain atrophy, and the use of antithrombotic medication were associated with postoperative CSDH.

• Journal of Korean Neurosurgical Society
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• 제39권1호
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• pp.20-25
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• 2006

Objective : The authors analyze prospectively the result of transcranial doppler[TCD] in normal pressure hydrocephalus and compared its cerebral blood flow parameters to radionuclide cerebrospinal fluid[CSF] flow study, postoperative brain computed tomography[CT] findings and clinical outcome, and studied the relationship between cerebral hemodynamics and clinical performance. Methods : Twenty five patients with hydrocephalus undertook pre- and post-operative TCD but only preoperative CSF flow study was performed. Mean flow velocity[Vm], pulsatility index[PI] and resistance index[RI] were assessed through TCD and changes in ventricle size and cortical gyral atrophy were checked through brain CT. Results : Postoperative hydrocephalus showed an increase in Vm[ACA P=0.037, MCA P=0.034], decrease in PI[ACA P=0.019, MCA P=0.017] and decrease in RI [ACA P=0.017, MCA P=0.021] compared to preoperative TCD parameters in the postoperative improvement group. In the postoperative improvement group, postoperative TCD parameters correlated with CSF flow study grade [Vm : $R^2=-0.75$, PI : $R^2=0.86$, RI : $R^2=0.78$] and ventriculocranial ratio change correlated with PI change [$R^2=0.73$]. The convexity gyral atrophy and initial TCD parameters showed close relationship to outcome. Conclusion : PI and RI can be used as an indicator of post operative prognosis, and with the addition of CSF flow study values, can also be used as a tool to predict pre-op and post-op patient status and successful shunt surgery.