• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Radiation Oncology Journal
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• v.22 no.3
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• pp.165-176
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• 2004

Purpose: Firstly, to analyze facto in terms of radiation treatment that might potentially cause subfrontal relapse in two patients who had been treated by craniospinal irradiation (CSI) for medulloblastoma, Secondly, to explore an effective salvage treatment for these relapses. Materials and Methods: Two patients who had high-risk disease (T3bMl, T3bM3) were treated with combined chemoradiotherapy CT-simulation based radiation-treatment planning (RTP) was peformed. One patient who experienced relapse at 16 months after CSI was treated with salvage surgery followed by a 30.6 Gy IMRT (intensity modulated radiotherapy). The other patient whose tumor relapsed at 12 months after CSI was treated by surgery alone for the recurrence. To investigate factors that might potentially cause subfrontal relapse, we evaluated thoroughly the charts and treatment planning process including portal films, and tried to find out a method to give help for placing blocks appropriately between subfrotal-cribrifrom plate region and both eyes. To salvage subfrontal relapse in a patient, re-irradiation was planned after subtotal tumor removal. We have decided to treat this patient with IMRT because of the proximity of critical normal tissues and large burden of re-irradiation. With seven beam directions, the prescribed mean dose to PTV was 30.6 Gy (1.8 Gy fraction) and the doses to the optic nerves and eyes were limited to 25 Gy and 10 Gy, respectively. Results: Review of radiotherapy Portals clearly indicated that the subfrontal-cribriform plate region was excluded from the therapy beam by eye blocks in both cases, resulting in cold spot within the target volume, When the whole brain was rendered in 3-D after organ drawing in each slice, it was easier to judge appropriateness of the blocks in port film. IMRT planning showed excellent dose distributions (Mean doses to PTV, right and left optic nerves, right and left eyes: 31.1 Gy, 14.7 Gy, 13.9 Gy, 6.9 Gy, and 5.5 Gy, respectively. Maximum dose to PTV: 36 Gy). The patient who received IMRT is still alive with no evidence of recurrence and any neurologic complications for 1 year. Conclusion: To prevent recurrence of medulloblastoma in subfrontal-cribriform plate region, we need to pay close attention to the placement of eye blocks during the treatment. Once subfrontal recurrence has happened, IMRT may be a good choice for re-irradiation as a salvage treatment to maximize the differences of dose distributions between the normal tissues and target volume.

• Korean Journal of Psychosomatic Medicine
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• v.4 no.2
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• pp.170-181
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• 1996

Objective : This study was tried to investigate the specific relationships among cognitve function, neurbehavioral symptoms, and daily living functions, as well as provide the guidline of more proper clinical approches for patients with subcortical cerebrovascular disease. Objects and Methods Subjects were 85 patients whose diagnosis was confirmed by brain CT or MRI and controls were 195 normal persons matched by educational level with the subjects. The cognitive functions were evaluated by BNA(Benton neuropsychiatric assessment), subjective neurobehavioral symptoms by SCL-90-R(Sympton Check List-90-Revised), objective neurobehavioral symptoms by NRS(Neurobehavioral Rating Scale), and daily living function symptoms by NRS(Neurobehavioral Rating Scale), and daily living function by GERRI(Geriatric Evaluation by Relative's Rating Instrument) and IADL(Instrumental Activities of Daily Living Scale). Results: 1) Subjects showed significantly lower cognitive functions than controls in all tests of BNA except Lt-Rt Orientation Test(p=0.09) and facial Recognition Test(p=0.186). 2) In subjective neurobehavioral symptoms, subjects showed significantly lower scores in all symptoms except anxiety(p=0.059), hostility(p=0.159), and phobic anxiety(p=0.849). But in objects neurobehavioral symptoms, subjects showed significantly higher in scores in psychoticism (p=0.000) and neuroticism(p=0.025) of NRS. 3) The score of social functioning of GERRI(p=0.000) and that of IADL(p=0.000) were significantly higher in subjects than in controls. 4) for correlation between cognitive and daily living functions, there were significant correlations between the scores of all items on BNA and the score of cognitive or social function of GERRI and the socre of MDL in corntrols, whereas in subjects, there were significant correlations only between the scores of BNA and the score of IADL. 5) for correlation between neuroehavioral symptoms and daily living functions, there were significant correlatons between the socre of subjective neurobehavioral symptoms and the scores of all subscales of GERRI and the score of MDL in controls. On the contrary, in subjects, there were significant correlations between the score of social function of GERRI and the score of objective neurobehavioral symptoms such as psychoticism, agitiation-hostility, and decrease d motivation-emotional withdrawl. Conclusion : Above results suggest that disturbances in specific function of brain may play a role as a predictor of impairments with specific daily living functions and also suggest that specific correlations among various functions may be useful as clinical parameters for setting of the treatment goal and for assessing the ongoing process in the treatment and rehavilitation of the patients with subcortical cerebrovascular disease.

• The Korean Journal of Nuclear Medicine
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• v.32 no.5
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• pp.397-402
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• 1998

Purpose: The purpose of this study was to evaluate the phenomenon of diaschisis in the cerebellum and cerebral cortex in patients with pure basal ganglia hemorrhage using cerebral blood flow SPECT. Materials and Methods: Twelve patients with pure basal ganglia hemorrhage were studied with Tc-99m ECD brain SPECT. Asymmetric index (AI) was calculated in the cerebellum and cerebral cortical regions as |$C_R-C_L$/$(C_R-C_L){\times}200$, where $C_R$and $C_L$ are the mean reconstructed counts for the right and left ROIs, respectively. Hypoperfusion was considered to be present when AI was greater than mean +2 SD of 20 control subjects. Results: Mean AI of the cerebellum and cerebral cortical regions in patients with pure basal ganglia hemorrhage was significantly higher than normal controls (p<0.05): Cerebellum ($18.68{\pm}8.94$ vs $4.35{\pm}0.94$, $mean{\pm}SD$), thalamus ($31.91{\pm}10.61$ vs $2.57{\pm}1.45$), basal ganglia ($35.94{\pm}16.15$ vs $4.34{\pm}2.08$), parietal ($18.94{\pm}10.69$ vs $3.24{\pm}0.87$), frontal ($13.60{\pm}10.5$ vs $4.02{\pm}2.04$) and temporal cortex ($15.92{\pm}11.95$ vs $5.13{\pm}1.69$). Ten of the 12 patients had significant hypoperfusion in the contralateral cerebellum. Hypoperfusion was also shown in the ipsilateral thalamus (n=12), ipsilateral parietal (n=12), frontal (n=6) and temporal cortex (n=10). Conclusion: Crossed cerebellar diaschisis (CCD) and cortical diaschisis may frequently occur in patients with pure basal ganglia hemorrhage, suggesting that CCD can develop without the interruption of corticopontocerebellar pathway.

• Radiation Oncology Journal
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• v.21 no.1
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• pp.100-106
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• 2003

Purpose : To develop a patients' setup verification tool (PSVT) to verify the alignment of the machine and the target isocenters, and the reproduclbility of patients' setup for three dimensional conformal radiotherapy (3DCRT) and intensity modulated radiotherapy (IMRT). The utilization of this system is evaluated through phantom and patient case studies. Materials and methods : We developed and clinically tested a new method for patients' setup verification, using digitally reconstructed radiography (DRR), simulation, porial and digital images. The PSVT system was networked to a Pentium PC for the transmission of the acquired images to the PC for analysis. To verify the alignment of the machine and target isocenters, orthogonal pairs of simulation images were used as verification images. Errors in the isocenter alignment were measured by comparing the verification images with DRR of CT Images. Orthogonal films were taken of all the patients once a week. These verification films were compared with the DRR were used for the treatment setup. By performing this procedure every treatment, using humanoid phantom and patient cases, the errors of localization can be analyzed, with adjustments made from the translation. The reproducibility of the patients' setup was verified using portal and digital images. Results : The PSVT system was developed to verify the alignment of the machine and the target isocenters, and the reproducibility of the patients' setup for 3DCRT and IMRT. The results show that the localization errors are 0.8$\pm$0.2 mm (AP) and 1.0$\pm$0.3 mm (Lateral) in the cases relating to the brain and 1.1$\pm$0.5 mm (AP) and 1.0$\pm$0.6 mm (Lateral) in the cases relating to the pelvis. The reproducibility of the patients' setup was verified by visualization, using real-time image acquisition, leading to the practical utilization of our software Conclusions : A PSVT system was developed for the verification of the alignment between machine and the target isocenters, and the reproduclbility of the patients' setup in 3DCRT and IMRT. With adjustment of the completed GUI-based algorithm, and a good quality DRR image, our software may be used for clinical applications.

• The Korean Journal of Nuclear Medicine Technology
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• v.14 no.1
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• pp.127-132
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• 2010

Purpose: Because of limitation of image acquisition method and acquisition time, scatter correction cannot perform easily in SPECT study. But in our hospital, could provide to clinic doctor of scatter corrected images, through introduction of new generation gamma camera has function of simple scatter correction. Taking this opportunity, we will compare scatter corrected and non-scatter corrected image from image quality of point of view. Materials and Methods: We acquisite the 'Hoffman brain phantom' SPECT image and '1mm line phantom' SPECT image, each 18 times, with GE Infinia Hawkeye 4, SPECT-CT gamma camera. At first, we calculated each contrast from axial slice of scatter corrected and non-scatter corrected SPECT image of 'Hoffman brain phantom'. and next, calculated each FWHM of horizontal and vertical from axial slice of scatter corrected and non-scatter corrected SPECT image of '1mm line phantom'. After then, we attempted T test analysis with SAS program on data, contrast and resolution value of scatter corrected and non-scatter corrected image. Results: The contrast of scatter corrected image, elevated from 0.3979 to 0.3509. And the resolution of scatter corrected image, elevated from 3.4822 to 3.6375. p value were 0.0097 in contrast and <0.0001 in resolution. We knew the fact that do improve of contrast and resolution through scatter correction. Conclusion: We got the improved SPECT image through simple and easy way, scatter correct. We will expect to provide improved images, from contrast and resolution point of view. to our clinic doctor.

• Radiation Oncology Journal
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• v.11 no.2
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• pp.241-247
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• 1993

Between July 1988 and December 1992, we treated 45 patients who had deep seated inoperable or residual and/or recurrent intracranial tumors using LINAC based stereotactic radiosurgery at the Department of Therapeutic Radiology, Kangnam St. Mary's Hospital, Catholic University Medical College. Treated intracranial tumors included pituitary tumors (n=15), acoustic neurinomas (n=8), meningiomas (n=7), gliomas (n=6), craniopharyngiomas (n=4), pinealomas (n=3), hemangioblastomas (n=2), and solitary metastatic tumor from lung cancer (n=1). The dimension of treatment field varied from 0.23 to 42.88 $cm^3\;(mean;\;7.26\;cm^3)$. The maximum tumor doses ranging from 5 to 35.5 Gy (mean; 29.9 Gy) were given, and depended on patients' age, target volume, location of lesion and previous history of irradiation. There were 22 male and 23 female patients. The age was varied from 5 to 74 years of age (a median age; 43 years). The mean duration of follow-up was 35 months (2~55 months). To date, 18 $(39.1\%)$ of 46 intracranial tumors treated with SRS showed absent or decrease of the tumor by serial follow-up CT and/or MRI and 16 $(34.8\%)$ were stationary, e.g. growth arrest. From the view point of the clinical aspects, 34 $(73.9\%)$ of 46 tumors were considered improved status, that is, alive with no evidence of active tumor and 8 $(17.4\%)$ of them were stable, alive with disease but no deterioration as compared with before SRS. Although there showed slight increase of the tumor in size according to follow-up imagings of 4 cases (pituitary tumor 1, acoustic neurinomas 2, pinealoma 1), they still represented clinically stable status. Clinically, two $(4.4\%)$ Patients who were anaplastic astrocytoma (n=1) and metastatic brain tumor (n=1) were worsened following SRS treatment. So far, no serious complications were found after treatment. The minor degree headache which could be relieved by steroid or analgesics and transient focal hair loss were observed in a few cases. There should be meticulous long term follow-up inall cases.

• Sleep Medicine and Psychophysiology
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• v.3 no.1
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• pp.56-67
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• 1996

Objectives : This study was designed to find clinical factors that could be differentiated by the lateralization of lesion and also find clinical factors to predict the lateralization of lesion. Methods : The subjects were 65 cooperative inpatients and outpatients with non-traumatic subcortical cerebrovascular disease without neurologic and psychiatric history from January 1995 to September 1995 ; 48 patients in Kyung Hee University, Oriental Medicine Hospital, 35 patients in Anam Hospital, Korea University were examined as subjects, but authors excluded 20 patients whose data were incomplete or who had uncertain lesions on brain CT or MRI. The 65 patients were divided into three groups-group with left hemispheric lesion, group with right hemispheric lesion, group with both hemispheric lesion-according to the finding of brain imaging study. Their cognitive functions were evaluated by the Benton Neuropsychological Assessment(BNA), their subjective neurobehavioral symptoms by Symptom Check List-90-R(SCL-90-R), their objective neurobehavioral symptoms by Neurobehavioral Rating Scale, and their daily living functions by Geriatric Evaluation by Relative's Rating Instrument(GERRl) and Instrumental Activities of Daily Living Scale(IADLs). Results : The results were as follows : 1) The results of cognitive function test indicated that the group with right hemispheric lesion showed low functions in Tactile Form Perception(left), the group with left hemispheric lesion showed low functions in Finger localization(right), the group with right hemispheric lesion showed low functions in Finger Localization(left). 2) Though, there were little significant differences in subjective neurobehavioral symptoms, the group with right hemispheric lesion showed higher scores in all symptoms except hostility. 3) Though, there were little significant differences in objective neurobehavioral symptoms, the group with both hemispheric lesion showed higher scores in cognition, guilty/disinhibition, the group with left hemispheric lesion showed higher scores in lability of mood, the group with right hemispheric lesion showed highest scores in psychotism, neurotism, agitation-hostility and decreased motivation/emotional withdrawal. 4) There were little significant differences among three groups in Daily Living Functions, but the group with right hemispheric lesion showed the lowest functions in Instrumental Activities of Daily Living. 5) As a result of discriminant analysis on each factor's contribution to the prediction of lesion, Finger Localization(left), Phoneme Discrimination and Tactile Form Perception(right) showed that they had the potentiality to predict lesion. Conclusion : The results suggest that there are little significant differences among the groups of three non-traumatic subcortical cerebrovascular disease in cognitive functions, but the group with right hemispheric lesion showed more serious and various changes in subjective and objective neurobehavioral symptoms, and showed low functions in Instrumental Activities of Daily Living. This results suggest the possibility that the decline of the daily living function in the group with right hemispheric lesion were due to various symptoms, not due to cognitive dysfunction. The confirmation of the possibility should be worked out through the follow-up study of some groups containing cortical lesion. Apart from these findings, Finger Localization, Tactile Form Perception(right) and Phoneme Discrimination suggest that they can be used as clinically valuable cognitive parameters that predict the lateralization of lesion in non-traumatic cerebrovascular disease.

• Radiation Oncology Journal
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• v.19 no.1
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• pp.53-65
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• 2001

Purpose : To improve the local control of patients with nasopharyngeal cancer, we have implemented 3-D conformal radiotherapy and forward intensity modulated radiation therapy (IMRT) to used of compensating filters. Three dimension conformal radiotherapy with intensity modulation is a new modality for cancer treatments. We designed 3-D treatment planning with 3-D RTP (radiation treatment planning system) and evaluation dose distribution with tumor control probability (TCP) and normal tissue complication probability (NTCP). Material and Methods : We have developed a treatment plan consisting four intensity modulated photon fields that are delivered through the compensating tilters and block transmission for critical organs. We get a full size CT imaging including head and neck as 3 mm slices, and delineating PTV (planning target volume) and surrounding critical organs, and reconstructed 3D imaging on the computer windows. In the planning stage, the planner specifies the number of beams and their directions including non-coplanar, and the prescribed doses for the target volume and the permissible dose of normal organs and the overlap regions. We designed compensating filter according to tissue deficit and PTV volume shape also dose weighting for each field to obtain adequate dose distribution, and shielding blocks weighting for transmission. Therapeutic gains were evaluated by numerical equation of tumor control probability and normal tissue complication probability. The TCP and NTCP by DVH (dose volume histogram) were compared with the 3-D conformal radiotherapy and forward intensity modulated conformal radiotherapy by compensator and blocks weighting. Optimization for the weight distribution was peformed iteration with initial guess weight or the even weight distribution. The TCP and NTCP by DVH were compared with the 3-D conformal radiotherapy and intensitiy modulated conformal radiotherapy by compensator and blocks weighting. Results : Using a four field IMRT plan, we have customized dose distribution to conform and deliver sufficient dose to the PTV. In addition, in the overlap regions between the PTV and the normal organs (spinal cord, salivary grand, pituitary, optic nerves), the dose is kept within the tolerance of the respective organs. We evaluated to obtain sufficient TCP value and acceptable NTCP using compensating filters. Quality assurance checks show acceptable agreement between the planned and the implemented MLC(multi-leaf collimator). Conclusion : IMRT provides a powerful and efficient solution for complex planning problems where the surrounding normal tissues place severe constraints on the prescription dose. The intensity modulated fields can be efficaciously and accurately delivered using compensating filters.

• Journal of Sasang Constitutional Medicine
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• v.10 no.2
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• pp.351-429
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• 1998

The Purpose of Study 1. Inspection of clinical application on TCD to CVA 2. Objective Comparement and analysis about treatment effect of Western-Medicine, Korean Medicine, Cooperative consultation of Korean and Western medicice for CVA The Subject of Study We intended for the eighty six patient of CVA who had been treated in the Oriental Medical Hospital at Dong Eui Medical Center from 1997. 8. I to 1998. 7. 31 1. View of CT, MRI : the patient of Cb infarction 2. Attack Time : The patient who coming hospital falling ill within the early one week The method of study 1. Treat four group of Korean medicine, Constitution medicine, Western medicine, cooperative consultation of Korean medicine and Western medicine. 2. Application of TCD Check the result for three times, immediatly after the attack, two months later, four months later 3. Comparative analysis of each treatment effect by clinical symptoms and pathologic examination 4. The Judgement of the patient The Result From 8/1/1997 to 7/31/1998, We have the following result by clinical analysis intended for CVA 86 patients who had been treated in the Oriental Medical Hospital at Dong Eui Medical Center from 1997. 8. 1 to 1998. 7. 31 in 1. Analysis according to Age The first stage of thirties, forties, seventies is heavier than forties, fifties in improvement and Index of improvement of symptom 2. Analysis according to sex We have no special relation in an average of symptom and improvement, Index improvement 3. Analysis according to Family History We have the better result in first stage and improvement, index improvement when no family history. 4. Analysis according to Past History We have no special relation in past history like hypertension, DM, heart problem 5. Analysis devided two group, above group and under group on the basis of the average in first stage of all patient. We have the better result when the first stage is light, that the first score of barthel index and CNS is high. 6. Analysis of the effect of treatment about Korean medical treatment, Western medical treatment, cooperative treatment. In this study, the highest group of rate of treatment at four contrast groups (Korean medicine, Constitution medicine, Western medicine, cooperative treatment according to dyagnosis and range of treatment was the patient group of doing dyagnosis and method of treatment based on constitution medicine theory. This is that of doing demostation, A-Tx, po-herb-medication according to dyagnosis and treat method of constitution of Lee Je-ma In case of left, the case of dyagnosis any disease according to doctor view but, normal in TCDwas 22-beginning of attack, 20- two weeks later, 11 case-four weeks later in case of right, 15-beginning of attack, 12-two weeks later, 9 case four weeks later. So left vessel compares to right vessel is more interference, in fact more than a 1/2 of the patients of MCA disease can't do dyagnosis. In rate of imparement, the state of pacient improved but there isn't the improved case of result in TCD. 7. In TCD dyagnosis, between the case of inconsus the doctor view specially MCA in brain blood vessel is in large numbers and in total 86's patient, impossible case of dyagnosis according to interferiance of temporal is 21 case. 7. Result study about application of Kreaan medical treatment 1) The impossible patient of observation MCA blood vescular for interference temporal bone happened in large numbers. 2) There is the case having difference result to CT,MRI, MRA result. 3) Because individual difference is large, excluding to ananalogy of symptom. This is normal numerical value that has possibility of being checked as abnormal numerical value 4) there are a lot of cases that the speed of normal part is as similarly measured as that of abnormal part. It means that we cannot judge the disease by this measure 5) It is rare that this measure represent degree of improvement in patient's condition of disease. When we observe patient's condition become better, but we have no case that the result of TCD test better. 6) The result could be appear differently by the technique of the tester or by the experience of the tester 7) In the TCD test, abnormal symptoms is checked at 0 week, but at 2th week, normal symptoms is checked, again at 4th week abnormal is checked. According to the above result, CVA diagnosis is difficult only with TCD, as it appear in diagnosis error check which is suggested in the problem connected to project, for the aged persons who have the worst hardening of part of the cranium (1998. 5. 26 77 of 83 patients is 50s) there is a lot of cases that the measurement is impossible by TCD and the correction of measurement numerical value is decreased, as the age of cerebral infarction is high, TCD is inappropriate to diagnosis equipment through this study.