• Journal of Korean Neurosurgical Society
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• v.50 no.3
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• pp.256-259
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• 2011

We report a rare case of Williams syndrome accompanying moyamoya disease in whom postoperative global cerebral infarction occurred unpredictably. Williams syndrome is an uncommon hereditary disorder associated with the connective tissue abnormalities and cardiovascular disease. To our knowledge, our case report is the second case of Williams syndrome accompanying moyamoya disease. A 9-year-old boy was presented with right hemiparesis after second operation for coarctation of aorta. He was diagnosed as having Williams syndrome at the age of 1 year. Brain MRI showed left cerebral cortical infarction, and angiography showed severe stenosis of bilateral internal carotid arteries and moyamoya vessels. To reduce the risk of furthermore cerebral infarction, we performed indirect anastomosis successfully. Postoperatively, the patient recovered well, but at postoperative third day, without any unusual predictive abnormal findings the patient's pupils were suddenly dilated. Brain CT showed the global cerebral infarction. Despite of vigorous treatment, the patient was not recovered and fell in brain death one week later. We suggest that in this kind of labile patient with Williams syndrome accompanying moyamoya disease, postoperative sedation should be done with more thorough strict patient monitoring than usual moyamoya patients. Also, we should decide the revascularization surgery more cautiously than usual moyamoya disease. The possibility of unpredictable postoperative ischemic complication should be kept in mind.

• Journal of Korean Neurosurgical Society
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• v.50 no.1
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• pp.68-71
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• 2011

We present a case of Neuro-Behçet's disease with an unpredictable clinical course. A 47-year-old man was admitted to the neurosurgery department of our hospital with a mild headache. Three days after admission, his consciousness suddenly decreased and respiratory distress progressed rapidly. A brain MRI revealed that the previously observed abnormal signal had extended markedly to both the thalamic areas and the entire brain stem, and the surrounding brain parenchyma were compressed by cerebral edema. Based on the patient's symptoms of recurrent oral and genital ulcers, skin lesions, and uveitis, a rheumatologist made a diagnosis of Behçet's disease with CNS involvement. The patient was treated with high-dose methylprednisolone with respiratory assistance in the intensive care unit for 9 days and his neurologic symptoms improved remarkably. Neuro-Behçet's disease must be considered in the differential diagnosis in rapidly deteriorated young neurological patients along with a stroke, low-grade glioma, multiple sclerosis, and occlusive venous disease.

• Molecules and Cells
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• v.47 no.1
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• pp.100005.1-100005.15
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• 2024

Amyotrophic lateral sclerosis is a devastating neurodegenerative disease with a complex genetic basis, presenting both in familial and sporadic forms. The hexanucleotide (G₄C₂) repeat expansion in the C9orf72 gene, which triggers distinct pathogenic mechanisms, has been identified as a major contributor to familial and sporadic Amyotrophic lateral sclerosis cases. Animal models have proven pivotal in understanding these mechanisms; however, discrepancies between models due to variable transgene sequence, expression levels, and toxicity profiles complicate the translation of findings. Herein, we provide a systematic comparison of 7 publicly available Drosophila transgenes modeling the G₄C₂ expansion under uniform conditions, evaluating variations in their toxicity profiles. Further, we tested 3 previously characterized disease-modifying drugs in selected lines to uncover discrepancies among the tested strains. Our study not only deepens our understanding of the C9orf72 G₄C₂ mutations but also presents a framework for comparing constructs with minute structural differences. This work may be used to inform experimental designs to better model disease mechanisms and help guide the development of targeted interventions for neurodegenerative diseases, thus bridging the gap between model-based research and therapeutic application.

• The Journal of Internal Korean Medicine
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• v.30 no.3
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• pp.550-557
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• 2009

Objectives : The purpose of this study was to investigate the possibility of Bi-Su as a pattern identification (PI) index in stroke patients. Methods : The subjects were 424 hospitalized stroke patients within 1 month from onset and diagnosed with the same PI subtypes (dampness & phlegm, qi deficiency, fire & heat, eum deficiency, and blood stasis) by agreement of two clinical experts. Bi-Su type is a kind of body shape (Bi : fat, Su : lean). Bi-Su type and degree (Bi-Su score) were decided by clinical expert. Body mass index (BMI) and waist-hip ratio (WHR) were used as an obesity index. Correlation analysis between Bi-Su score and obesity index (Spearman) and variance analysis for Bi-Su score, BMI, and WHR among PI subtypes (ANOVA) and sex were carried out. Results : While there was partial correlation between Bi-Su type and BMI($r^2$=0.634, p<0.001), the distribution of the BMI group based on the Bi-Su group showed the broadest range. The Bi-Su score in the dampness & phlegm group was higher than in the other groups (p<0.001). BMI in the dampness & phlegm groups was also higher but the BMI differences among PI subtypes was low (p=0.002). The Bi-Su score in the dampness & phlegm group was similar in both sexes, although the hand score in the eum deficiency group was the lowest, especially in males. Conclusions : Although BMI is not an objective enough tool for evaluating Bi-Su type, Bi-Su type is more appropriate than BMI as PI index. Therefore Bi-Su type could be used as one of the PI indices for dampness & phlegm or eum deficiency group in stroke patients.

• The Journal of Internal Korean Medicine
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• v.30 no.4
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• pp.813-820
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• 2009

Background : Static blood is a kind of etiological factor including stagnated blood and blood overflowed out of the vessels. It is one of the causes of stroke in oriental medicine. Objectives : The purpose of this study was to evaluate the static blood pattern and its indicators in stroke pattern diagnosis. Methods : For the standardization of pattern diagnosis in stroke, we set 5 patterns (Fire-heat, Dampness-phlegm, Static blood, Qi deficiency, Yin deficiency) and developed 61 indicators. Patients with a first-ever stroke, within 1 month after the onset of stroke. Two physicians checked the indicators independently. They then performed pattern diagnosis and rechecked the indicators which were referred to pattern diagnosis. If pattern identifications were diagnosed the same, it would confirm pattern identification. We examined the frequency of all indicators and referred indicators in static blood pattern patients. Results : In 859 patients, static blood pattern was shared by 24(2.8%). The indicators which affect static blood pattern were mainly rough pulse and bluish purple tongue, other indicators were not major effectors. Conclusion : This result shows that it is inconsistent to set up static blood pattern as a major pattern in stroke. Nevertheless, static blood is still a valuable concept in the clinical field. Other study methods will be required to establish the pattern diagnostic indicators for static blood pattern.

• Journal of Physiology & Pathology in Korean Medicine
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• v.24 no.1
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• pp.15-21
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• 2010

Previously standardization study for identifying 5 types of pattern identification of stroke patients has been performed and the Korean standard of pattern identification (II) was developed. In the present study we investigated the interactions between total indices designated by the Korean standard of pattern identification(KSPI II) and indices for PI of Cold-Heat and Deficiency-Excess. Indicators for Cold-Heat and Deficiency-Excess are isolated from 58 indices through the survey of oriental medicine doctors and their relationship with KSPI-II indices was analyzed by corresponding analysis method using data of 1581 stroke patients. Means and standard deviations indicated that 2 Cold indices, 14 Heat indices, 12 Deficiency indices, and 5 Excess indices were included for Cold-Heat and Deficiency-Excess pattern identification. The results of corresponding analysis shows the relationship of 57 indices and 4 types of pattern identification (excluding 1 index and 1 pattern among 58 indices and 5 patterns) using the cross-tabulation which was obtained from the clinical data. Most of Cold and Heat index were divided to dimension 1(inertia 51.9%) obtained from the result of corresponding analysis. Deficiency and Excess index were partially associated with dimension 2(inertia 31.7%). These data suggest that pattern identification of Cold-Heat plays an role in the standardization of pattern identification in stroke, although further studies are required by various trials such as analysis of surveys and clinical data.

• Journal of Physiology & Pathology in Korean Medicine
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• v.25 no.6
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• pp.1113-1118
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• 2011

In this paper, when a physician make a diagnosis of the pattern identification (PI) in Korean stroke patients, the development methods of the PI classification function is considered by diagnostic questionnaire of the PI for stroke patients. Clinical data collected from 1,502 stroke patients who was identically diagnosed for the PI subtypes diagnosed by two physicians with more than 3 years experiences in 13 oriental medical hospitals. In order to develop the classification function into PI using Korean Stroke Syndrome Differentiation Standard was consist of the 44 items (Fire heat(19), Qi deficiency(11), Yin deficiency(7), Dampness-phlegm(7)). Using the 44 items, we took diagnostic and prediction accuracy rate through of discriminant model. The overall diagnostic and prediction accuracy rate of the PI subtypes for discriminant model was 74.37%, 70.88% respectively.

• The Korean Journal of Nuclear Medicine
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• v.38 no.3
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• pp.209-217
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• 2004

Evaluation of dementia in patients with early symptoms of cognitive decline is clinically challenging, but the need for early, accurate diagnosis has become more crucial, since several medication for the treatment of mild to moderate Alzheimer' disease are available. Many neurodegenerative diseases produce significant brain function alteration even when structural imaging (CT or MRI) reveal no specific abnormalities. The role of PET and SPECT brain imaging in the initial assessment and differential diagnosis of dementia is beginning to evolve vapidly and growing evidence indicates that appropriate incorporation of PET into the clinical work up can improve diagnostic and prognostic accuracy with respect to Alzheimer's disease, the most common cause of dementia in the geriatric population. in the fast few years, studios comparing neuropathologic examination with PET have established reliable and consistent accuracy for diagnostic evaluations using PET - accuracies substantially exceeding those of comparable studies of diagnostic value of SPECT or of both modalities assessed side by side, or of clinical evaluations done without nuclear imaging. This review deals the role of functional brain imaging techniques in the evaluation of dementias and the role of nuclear neuroimaging in the early detection and diagnosis of Alzheimer's disease.

• Journal of TMJ Balancing Medicine
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• v.8 no.1
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• pp.11-15
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• 2018

Recently, clinical efficacies of the intraoral balancing appliance therapy have been reported by several researchers, and it has been found that there are various kinds of diseases that can be effectively applied. However, studies on cerebrovascular disease, one of the main diseases with a high mortality rate, are still poorly reported, and studies of temporomandibular joint disorder (TMD)-induced changes in brain function suggest that cerebrovascular disease is more appropriate as an adaptive disorder of the temporomandibular joint (TMJ) balancing device. In the developed countries, the importance of research on the structure and function of the brain has been recognized and spurred on the related research. In Korea, the research on brain function and cognitive disorders should have promoted more massively. In order to regain its former reputation in the Korean medicine in the field of cerebrovascular disease, it should be spurred on basic research and clinical case studies. In addition, extensive and in-depth studies including animal studies are needed to establish the basis of underlying mechanisms of the TMJ balancing therapies.

• BMB Reports
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• v.41 no.1
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• pp.23-28
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• 2008

The altered amino acid (AA) levels as neurotransmitter closely correlate to neurodegenerative conditions including Alzheimer's disease (AD). Target profiling analysis of nineteen AAs in brain cortex samples from three Tg2576 mice as AD model and three littermate mice as control model was achieved as their N(O,S)-ethoxycarbonyl/tert-butyldimethylsilyl derivatives by gas chromatography. Subsequently, star pattern recognition analysis was performed on the brain AA levels of AD mice after normalization to the corresponding control median values. As compared to control mice, $\gamma$-aminobutyric acid among ten AAs found in brain samples was significantly reduced (P < 0.01) while leucine was significantly elevated (P < 0.02) in AD mice. The normalized AA levels of the three AD mice were transformed into distorted star patterns which was different from the decagonal shape of control median. The present method allowed visual discrimination of the three AD mice from the controls based on the ten normalized AA levels.