• Clinical and Experimental Pediatrics
• /
• 제55권10호
• /
• pp.397-402
• /
• 2012

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestations such as nystagmus, developmental delays, and spasticity, and genetic analysis can confirm the diagnosis. Further diagnostic manifestations of the disease include a lack of myelination on brain magnetic resonance (MR) imaging and aberrant N-acetyl aspartate (NAA) and choline concentrations that reflect axonal and myelination abnormalities on phroton MR spectroscopy. We report 5 cases of PMD (in 1 girl and 4 boys). PLP1 duplication was detected in 2 patients. Brain MR analyses and MR spectroscopy were performed for all the patients. The brain MR images showed white matter abnormalities typical of PMD, and the MR spectroscopic images showed diverse patterns of NAA, creatinine, and choline concentrations. We propose that MR spectroscopic analysis of metabolic alterations can aid the PMD diagnosis and can contribute to a better understanding of the pathogenesis of the disease.

• BMB Reports
• /
• 제56권3호
• /
• pp.190-195
• /
• 2023

We propose a novel blood biomarker detection method that uses miRNA super-resolution imaging to enable the early diagnosis of Alzheimer's disease (AD). Here, we report a single-molecule detection method for visualizing disease-specific miRNA in tissue from an AD mice model, and peripheral blood mononuclear cells (PBMCs) from AD patients. Using optimized Magnified Analysis of Proteome (MAPs), we confirmed that five miRNAs contribute to neurodegenerative disease in the brain hippocampi of 5XFAD and wild-type mice. We also assessed PBMCs isolated from the whole blood of AD patients and a healthy control group, and subsequently analyzed those samples using miRNA super-resolution imaging. We detected more miR-200a-3p expression in the cornu ammonis 1 and dentate gyrus regions of 3 month-old 5XFAD mice than in wild-type mice. Additionally, miRNA super-resolution imaging of blood provides AD diagnosis platform for studying miRNA regulation inside cells at the single molecule level. Our results present a potential liquid biopsy method that could improve the diagnosis of early stage AD and other diseases.

• 대한핵의학회지
• /
• 제22권1호
• /
• pp.27-31
• /
• 1988

In Graves' disease, changes in orbital tissue and structure are casued by inflammatory infiltation, which induces increase of capillary permeability and breakdown of blood-tissue barriers. Using the uptake of $^{99m}Tc-DTPA$ in inflammatory lesion, Eye/Brain radioactivity ratios in brain scintigraphy were evaluated in 15 normal controls and 40 Graves' patients. The results were as follows; 1) Eye/Brain radioactivity ratio was significantly higher in Graves' ophthalmopthy group than in control group (p < 0.005). 2) In Graves' ophthalmopathy, Eye/Brain radioactivity ratio was significantly higher in active (progressive) group than in inactive (non-progressive) group (p < 0.05). 3) There was no correlation between class of ATA classification of Graves' ophthalmopathy and Eye/Brain radioactivity ratio. 4) There was no correlation between Eye/Brain radioactivity ratio and serum activity of TBII. In conclusion, Eye/Brain radioactivity ratio using $^{99m}Tc-DTPA$ brain scintigraphy may be useful to determine the activity of Graves' ophthalmopathy and whether treatment of Graves' ophthalmopathy is necessary or not.

• Journal of Korean Neurosurgical Society
• /
• 제66권2호
• /
• pp.172-182
• /
• 2023

Objective : The blood-brain barrier (BBB) is an obstacle for molecules to pass through from blood to the brain. Focused ultrasound is a new method which temporarily opens the BBB, which makes pharmaceutical delivery or removal of neurodegenerative proteins possible. This study was demonstrated to review our BBB opening procedure with magnetic resonance guided images and find specific patterns in the BBB opening. Methods : In this study, we reviewed the procedures and results of two clinical studies on BBB opening using focused ultrasound regarding its safety and clinical efficacy. Magnetic resonance images were also reviewed to discover any specific findings. Results : Two clinical trials showed clinical benefits. All clinical trials demonstrated safe BBB opening, with no specific side effects. Magnetic resonance imaging showed temporary T1 contrast enhancement in the sonication area, verifying the BBB opening. Several low-signal intensity spots were observed in the T2 susceptibility-weighted angiography images, which were also reversible and temporary. Although these spots can be considered as microbleeding, evidence suggests these are not ordinary microbleeding but an indicator for adequate BBB opening. Conclusion : Magnetic resonance images proved safe and efficient BBB opening in humans, using focused ultrasound.

• 한국산학기술학회논문지
• /
• 제20권5호
• /
• pp.241-251
• /
• 2019

본 연구에서는 Alzheimer's disease(AD) 마우스 모델에서 미세전류의 적용을 통한 인지능력 개선 효과를 확인하였다. ICR 마우스에 amyloid beta($A{\beta}$)를 뇌 내 주입하여 인지능력 손상을 유도한 후, 4가지 파형의 미세전류를 각각 적용하여 손상된 인지능력에 미치는 미세전류의 영향을 검토하였다. AD 마우스의 공간 및 물체 인지능력을 확인하기 위해 행동실험을 실시한 결과, novel object recognition test와 Morris water maze test에서 $A{\beta}$로 인해 손상되었던 인지능력이 미세전류 적용군에서 유의적으로 개선됨을 확인하였으며, 지질과산화 반응으로 인한 malondialdehyde의 뇌 내 생성량 또한 감소하였다. 뇌 조직에서 AD 관련 단백질 발현을 측정한 결과, 특히 미세전류 Wave4 [STEP FORM 파형(0, 1.5, 3, 5V), 중첩Hz 적용] 적용군에서 $A{\beta}$ 생성 관련 단백질인 ${\beta}$-secretase, presenilin 1, presenilin 2의 발현이 감소하였고 신경영양인자인 brain-derived neurotrophic factor 단백질 발현이 증가하였다. 이 결과를 바탕으로 AD 마우스에서 미세전류를 이용한 손상된 인지능력에 대한 개선 효과를 확인하였으며, AD 예방 및 치료를 위한 비약물적인 방법으로서 적용할 수 있을 것으로 기대된다.

• 한국방사선학회논문지
• /
• 제8권4호
• /
• pp.163-170
• /
• 2014

본 연구는 경도인지장애가 동반된 환자를 대상으로 뇌 자기공명영상에서 인지 영역에 대한 대뇌 피질 두께를 측정하고 신경심리검사 결과와 비교하여 신경해부학적 상관관계를 규명하고자 하였다. 이를 위하여 파킨슨병으로 최초 진단 받고 신경심리검사를 시행한 78명(경도인지장애군: 39명; 비인지장애군: 39명)과 정상인 그룹 32명을 선정하였다. 신경심리검사에서 경도인지장애군과 비인지장애군의 상관관계와 신경심리검사와 뇌 자기공명영상에서 대뇌 피질 두께의 상관관계는 독립표본 T 검증 또는 피어슨 상관분석을 실시하였으며 수집된 자료의 유의 수준은 p<0.05에서 검증하였다. 결론적으로 경도인지장애를 동반한 파킨슨병 환자는 뇌 자기공명영상에서 양측 쐐기압소엽과 우하측두엽의 대뇌 피질 두께가 통계적으로 유의하게 감소하였으며 인지 기능 평가를 위한 신경심리검사에서 시공간 기능, 언어 및 시각 기억력 기능이 저하되었다. 특히 언어 및 시각 기억력 영역에 대한 신경심리검사와 신경해부학적으로 좌측 쐐기앞소엽에서 상관관계가 있었다.

• 재활복지
• /
• 제18권4호
• /
• pp.237-255
• /
• 2014

특발성 파킨슨병(idiopathic Parkinson disease, IPD)은 알 수 없는 원인으로 인해 중뇌의 흑질신경세포가 손실되는 대표적인 퇴행성 신경계 질환이다. IPD 환자는 신체 운동 이상을 주로 호소하지만 이들 중 70~90%가 운동저하형 마비말장애(hypokinetic dysarthria)를 동반하는 것으로 알려져 있다. 진행된 심도의 IPD 환자의 운동 증상 호전에 가장 효과적인 치료 방법으로 알려진 시상밑부핵 심부뇌자극술(subthalamic nucleus deep brain stimulation, STN-DBS)은 말 산출에서는 그 효과가 일관되지 않게 보고된다. 이에 본 연구에서는 STN-DBS가 말 산출에 미치는 영향을 살펴보고, 연구에서 어떠한 말 평가 과제가 사용되었는지를 조사하기 위하여 medline을 통해 2012까지 이루어진 연구 논문을 수집하였다. 총 32편 중, 연구대상자들에서 술 후 말 상태의'호전'이 관찰된 논문은 42%,'악화'는 29%,'엇갈리는 결과'는 26%,'변화 없음'은 3%로 확인되었다. 말 효과 간에는 문맥발화(contextual speech)가 연구에 사용된 비중이 높을수록 술 후 말 상태는 부정적인 결과로 보고되었으며, 말 산출 단계 중 일부 단계(예: 호흡 및 발성만, 혹은 조음만)만이 반영된 평가 과제가 연구마다 선택적으로 사용되었음을 확인하였다. 이에 본 연구는 STN-DBS를 받은 IPD 환자의 말 평가는 말 산출 하부 단계를 모두 반영하는 문맥발화 과제를 통일적으로 사용할 것을 제안한다.

• 대한본초학회지
• /
• 제23권2호
• /
• pp.159-168
• /
• 2008

Objectives : The present study has been undertaken to investigate the effects of Dipsaci Radix on Muscle Fiber Atrophy and MyoD Expression in Gastrocnemius of MCAO Rats Methods : In order to investigate effects of Dipsaci radix on the skeletal muscle atrophy following stroke, cerebral infarct was induced by the middle cerebral artery occlusion (MCAO) in the rats. Water extract of Dipsaci radix (184.4 mg/100 g) was treated for 4 weeks, once a day orally, after the MCAO. Effects were evaluated with muscle fiber type composition and cross-sectioned area of muscle fibers in gastrocnemius of the unaffected & affected hind limbs. And MyoD protein expression in gastrocnemius was demonstrated with immunohistochemistry and western blotting. Results : Obtained results were as follows; 1. Infarct volume was not attenuated by Dipsaci radix treatment in the MCAO rats. 2. At the affected-side hind limb of the MCAO rats, the increase of type-I fibers and the decrease of type-II fibers were induced by Dipsaci radix treatment. 3. At the affected-side hind limb of the MCAO rats, decreases of cross-sectioned areas of type-I and type-II fibers were attenuated by Dipsaci radix treatment. 4. At the affected-side hind limb of the MCAO rats, MyoD positive cells were increased by Dipsaci radix treatment. 5. At the affected-side hind limb of the MCAO rats, MyoD expressions were increased by Dipsaci radix treatment. Conclusions : These results suggest that Dipsaci radix has a protective effect against muscle atrophy, through the inhibition of the muscle cell apoptosis, following the central nervous system demage.

• Journal of Korean Neurosurgical Society
• /
• 제41권6호
• /
• pp.414-417
• /
• 2007

A 52-year-old woman with hypertension and moyamoya disease presented with chronic subdural hematoma [CSDH]. The presumed cause of bleeding was ascribed to administrated antiplatelet agents. She responded slowy and clumsily to verbal commands and had right arm weakness. After surgery, her clinical condition improved. But two days after surgery, her symptoms became aggravated and a convulsive seizure was noted within 24 hours. Brain magnetic resonance imaging showed no organic lesion except a small amount of residual CSDH. In addition, there was no laboratory evidence of metabolic brain disease. Moreover, after the administration of an antiepileptic drug [phenytoin], her manifestations disappeared. Therefore, the authors presume that her symptoms were resulted from nonconvulsive status epilepticus [NCSE], despite a lack of ictal period electroencephalographic findings. The authors were unable to find a single case report on postoperative NCSE in Korea. Therefore, the authors report this case of nonconvulsive status epilepticus after drainage of a CSDH in a patient with moyamoya disease.

• Journal of Information Processing Systems
• /
• 제17권1호
• /
• pp.178-190
• /
• 2021

Alzheimer's disease (AD) is an insidious and degenerative neurological disease. It is a new topic for AD patients to use magnetic resonance imaging (MRI) and computer technology and is gradually explored at present. Preprocessing and correlation analysis on MRI data are firstly made in this paper. Then kernel principal component analysis (KPCA) is used to extract features of brain gray matter images. Finally supervised classification schemes such as AdaBoost algorithm and support vector machine algorithm are used to classify the above features. Experimental results by means of AD program Alzheimer's Disease Neuroimaging Initiative (ADNI) database which contains brain structural MRI (sMRI) of 116 AD patients, 116 patients with mild cognitive impairment, and 117 normal controls show that the proposed method can effectively assist the diagnosis and analysis of AD. Compared with principal component analysis (PCA) method, all classification results on KPCA are improved by 2%-6% among which the best result can reach 84%. It indicates that KPCA algorithm for feature extraction is more abundant and complete than PCA.