• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.18 no.2
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• pp.51-61
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• 2005

We analyzed statistics study in 1394 patients, who had visited to the Dept. of dermatology, ophthalmology & otorhinolaryngology Hospital of Oriental Medicine Sangji University from July, 2003 to December, 2004. The results were as follows. 1. Distribution of ophthalmology, otorhinolaryngology and dermatology classification was 14.23% in ophthalmology, 13.92% in rhinology, 4.79% in laryngology, 23.05% in dermatology, 8.25% in otology, 2.14% in stomatology and 33.63% in other. 2. Ophthalmology group were 12.39% males and 14.16% females in 61years old over. In treatment term, opthalmology patients who had treated for 2 weeks within were 85.84%. Blepharism and asthenopia were the most common ophthalmologic disease. 3. Rhinology group were 18.10% males in 11-20 years old and 14.48% females in 10 years old within. In treatment term, rhinology patients who had treated for 2 weeks within were 70.59%. Rhinitis and sinusitis were the most common rhiniologic disease. 4. Otology group were 19.08% males and 16.80% females in 61years old over. In treatment term, otologic patients who had treated for 2 weeks within were 64.89%. Tinnitus and vertigo were the most common otologic disease. 5. Laryngology group were 10.53% males and 17.11% females 41-50 years old. In treatment term, laryngology patients who had treated for 2 weeks within were 85.53%. pharyngitis and abnormal pharyngolarylgeal region sensation were the most common laryngologic disease. 6. Stomatology group were 11.76% males in 31-40, 41-50 years old and 17.65% females in 61 years old over. In treatment term, stomatology patients who had treated for 2 weeks within were 82.35%. Stomatitis and labium spasm were the most common stomatologic disease. 7. Dermatology group were 11.75% males and 15.30% females in 21-30 years old. In treatment term, dermatology patients who had treated for 2 weeks within were 72.95%. Acne and urticaria were the most common dermatologic disease. 8. Other group were 8.99% males in 41-50 years old and 14.04% female in 61 years old over. In treatment term, other group patients who had treated for 2 weeks within were 69.29%. Bell's palsy and common cold were the most common other disease.

• Journal of Life Science
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• v.24 no.2
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• pp.181-185
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• 2014

We identified SNPs (single nucleotide polymorphisms) for endothelial nitric oxide synthase (eNOS) genes in the Korean genome. eNOS is present in the vascular endothelium, platelets, and several other cell types that continuously produce modest amounts of NO. Endothelium-derived NO plays a key role in the regulation of vascular tone, and the impaired effects of NO on the cardiovascular system appear to be responsible for coronary atherosclerosis and thrombosis. In recent studies, a missense variant within exon 7 of the eNOS gene in patients with coronary spastic angina-GAG to GAT substitution, which results in the replacement of glutamic acid by aspartic acid (Glu298Asp [G894T])-has been identified and is known to be significantly associated with coronary spasm. We prepared PCR primers based on sequences in Genbank. Primers were prepared for normal and SNPs separately, as reported for other Asian countries, such as G894T. Their sequences were different only at the 3' ends so that primer extension could only by possible when base pairs between templates and primers matched. We also employed ARMS (Amplification Refractory Mutation System) technology to improve the specificity of the PCR reaction. In conclusion, we were able to demonstrate the eNOS G894A polymorphism in Korean gemone. This study should facilitate research on the cause of myocardial infarction and development on further therapy at the genetic level.

• Korean Journal of Oriental Medicine
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• v.13 no.2 s.20
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• pp.65-69
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• 2007

Background and Purpose : The purpose of this case-control study was to show the relationship between risk factors(past medical history, BMI, WHR, smoking, drinking), warning signs(dyscinesia, sightless, dysarthria, sensory disorder, numbness, blephalospasm, facial spasm, tension) and the incidence of stroke in korean adults. Methods : 455 stroke patients were enrolled as the case group and 180 non-stroke patients as control group from Oct. 2005 to Feb. 2006. Patients were hospitalized within 2 weeks after the onset of stroke. Obesity were defined as $BMI{\geq}25kg/m2$, $WHR{\geq}0.9$ in male and $WHR{\geq}0.8$ in female. Risk factors and warning signs were obtained from personal interview. The analysis of the data was done by chi-square test. Fisher's exact test and test-sample t-test. Results : The percentage of current smokers(or current drinkers) of case group is higher significantly than that of control group. The past medical history of risk factors were found to be transient ischemic attack(p=0.0698), facial palsy(p=0.4061), hypertension(p<0.0001), hyperlipidemia(p=0.1484), DM(p<0.0001), ischemic heart disease(p=0.0093), migraine(p=0.0014) and hypochondria(p=0.2370). $WHR{\geq}0.9$ in male had a 6.696 (3.711-12.082) odds ratio, $WHR{\geq}0.8$ in female had a 1.567 (0.659-3.726) odds ratio. $BMI{\geq}25kg/m2$ had a 2.017(1.263-3.222). The dyscinesia and sensory disorder of warning signs were found to be statistical difference between case and control group. Conclusions : According to the above results, it was found that smoking, drinking, BMI, WHR, hypertension, DM, ischemic heart disease, migraine affected to the incidence of stroke.

• The Journal of Internal Korean Medicine
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• v.28 no.4
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• pp.816-829
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• 2007

Objectives : This study investigated warning signs and stroke presymptoms and their relationship with acute stroke patients in each stroke type. Methods : 217 patients with first-ever acute stroke within 2 weeks as the case group, 146 people without four major risk factors (hypertension, diabetes mellitus, hyperlipidemia and ischemic heart disease) as the healthy control group (Normals), and 160 people as the general control group (Controls) were recruited at the Stroke Medical Center in Daejeon University Oriental Medicine Hospital from July 2005 to March 2007 for this case-control study. We analyzed the odds ratio of each warning sign or presymptom by multivariate logistic analysis and evaluated each stroke type, as well as general characteristics such as age, sex, etc. Results : Paralysis or weakness of the face and limbs, visual field disorder or loss of vision or blurred and double vision in eyes or both eyes, and sudden difficulty in speaking or dysarthria showed significant increase respectively in each stroke type. In contrast, numbness or tingling sensation or lowering sensation of the face and limbs, numbness or dead sensation of 1st and 2nd fingers, tension at cervical lesion, blepharospasm, facial spasm, etc. had no significant relation with stroke occurrence. Conclusions : In this study we demonstrated that each presymptom have an influence on each stroke type and have different odds ratio for stroke. We believe this may contribute to interpreting the importance of warning signs or presymptoms for each type of stroke, and more prospective studies are needed.

• Journal of Korean Neurosurgical Society
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• v.29 no.6
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• pp.744-747
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• 2000

Objectives : The purpose of this study was to evaluate the clinical features of the epidermoid tumor of posterior fossa and to assess the surgical outcome. Methods : We reviewed the clinicoradiological records of 10 epidermoid tumor of posterior fossa, treated surgically at our hospital between 1991 and 1996. Results : The mean age of onset was 36 years old and mean duration of symptom was 5.2 years. Six were men and four were women. The location of tumors were cerebellopontine angle(CPA) 5 cases, cerebellum(Cbll)& 4th ventricle 3 cases, foramen magnum 1 case, and pineal region extended to Cbll and 4th ventricle 1 case. Common clinical features were trigeminal neuralgia in 3 cases, cerebellar signs 2 case, headache 2 cases, hemifacial spasm with deafness 1 case, cbll signs and multiple cranial nerve dysfunctions 1 case. One CPA epidermoid had no clinical symptom and sign associated with the tumor. The surgical approaches were suboccipital approach in 9 cases and one transcallosal approach to the tumor of pineal region. The extent of surgical removal was gross total resection in 5 cases and near total or subtotal resection in 5. Two patients with CPA tumor were complicated with facial paresis. One patient with tumor located in cerebellum extended into cisterna magna had postoperative vocal cord paresis. All complicated cases had severe adhesion of tumor capsule with brainstem or cranial nerve. The mean duration of follow up was 26 months. The overall outcome was improvement of symptoms and signs in 6 cases and stationary 4 cases. During follow up, imaging study was done in 7 patients and none of them had finding of tumor recurrence. Conclusion : We conclude that recurrence of tumor is rare in both total and subtotal resected cases, but long-term follow-up is required. Aggressive removal of tumor capsule that adhesed to brianstem or cranial nerve is avoided for preventing severe postoperative complication.

• Journal of Acupuncture Research
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• v.24 no.4
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• pp.209-223
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• 2007

Objectives : Facial Nerve Paralysis is one kind of common diseases and it can be treated by natural therapy and the efficiency of treatment is relatively high. In clinical trial, it is not difficult to find patients who were not completely recovered from Facial Nerve Paralysis, so the symptoms are fixed permanently. This leads many doctors and patients to have interests in the progress and prognosis of the disease, so this study was to analyze clinical prognosis factors and verify the effects of Electrodiagnostic Test. Methods : The 378 subjects were chosen from 987 patients who were suffering from Peripheral Facial Palsy, diagnosed with Bell's palsy and Ramsay Hunt Syndrome and had admission treatment. They got Oriental-Western Medicine Treatment within two weeks after outbreaks of the disease and treated at least over 3 weeks using Oriental-Western Medicine Treatment. Results : 1. There was a significant difference in the results of treatment according to gender, age, types of Facial Palsy, existence of Post Auricular Pain, existence of Labyrinth Symptom, HBGS, and existence of onsets of recovery as clinical prognosis factors of Peripheral Facial Palsy, However, a statistically significant difference was not shown in the results of treatment according to the position of Facial Palsy(left or right), existence of a relapse, and diabetes, hypertension. 2. As a result of overall treatment, 77.2% of patients were recovered almost entirely and 22.8% were not, and the quelae of incomplete recovery were Synkinesis, facial contracture, facial spasm, crocodile tears and scheroma in order of frequency. 3. The results of electrodiagnostic test represented useful correlation to predict the final effects of treatment. Conclusion : Based on the above results, the prognosis factors, the degree of recovery, and the sequelae of incomplete recovery were analysed and the effects of electrodiagnostic test was verified.

• Journal of the Institute of Electronics and Information Engineers
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• v.51 no.10
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• pp.213-220
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• 2014

Korean magnetoencephalography (MEG) system had been developed and installed to hospital. The Korean MEG system contains helmet-shaped arrays of 152 first-order double relaxation oscillation SQUID (DROS) sensor. As a clinical application we have measured and analyzed evoked responses in patients with functional brain disease by outer stimulation as follows; 1) auditory evoked field in patients with hemifacial spasm, 2) somatosensory evoked fields in patients with tumor. We confirm that neuromagnetic data by Korean MEG system can provide useful information for pre-surgical planning or functional brain research.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.33 no.4
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• pp.340-349
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• 2007

Free flap transplantation with microvascular anastomosis has been successfully performed by development of surgical technique, materials and postoperative monitoring equipments of flap. But success rate of microvascular anastomosis is influenced by various factors, and failure rate is about 5-10%. The most influential factor for success rate is surgical technique and other factors that influence failure of microvascular anastomosis are ischemic time of free flap, thrombus formation of anastomosis region and vascular spasm. In this study, vascular patency and thrombus formation in experimental micro-venous anastomosis, and endothelial repair were observed with histologic analysis, scanning electron microscopy, transmission electron microscopic examination. The results were obtained as follows: 1. In vascular patency test in 30 minute and 7 days after micro-venous anastomosis with heparin irrigation, all of 12 anastomosis site were good vascular patency. 2. In thrombus formation in 2 weeks group(Experimental I), 2 site of 6 cases were observed thrombus, and in 4 weeks group(Experimental II), 1 site of 6 cases were observed thrombus. 3. In histologic examination, normal vein(Control Group) showed continued internal elastic lamina, well formed thick smooth muscle layer and connective tissue. The group of 2 weeks after microvenous anastomosis(Experimental I) showd locally recovered internal lamina, discontinued internal lamina, disorganized smooth muscle cells and granulation tissue around suture silk. In the group of 4 weeks after micro-venous anastomosis(Experimental II), anastomosis site showed almostly continued internal lamina, disorganized smooth muscle cells and cicartrized tissue around suture silk. 4. In scanning electron microscope examination in 2 weeks(Experimental I) after micro-venous anastomosis, mesh fibrin formation showed near to endothelial cells, and in 4 weeks after micro-venous anastomosis(EXperimental II), numerous blood cells and fibrin mesh formation was seen associated with irregular endothelial cell arrangement. 5. In transmission electron microscope examination in 2 weeks after micro-venous anastomosis(Experimental I), irregular arrangement of smooth muscle cells was seen adjacent to collagenized tissue around suture silk. In 4 weeks after micro-venous anastomosis(Experimental II), denuded venous wall composed of relatively well arranged smooth muscle cells was covered by endothelial cells, but fibroblast cells and foreign body giant cells near to suture silk was remained. From the results obtained in this study, results of good vascular patiency and anti-thrombotic effect of heparin were obtained as a local irrigation solution, and repair of venous endothelial cell was observed in 2 weeks after micro-venous anastomosis.

• Korean Journal of Plant Resources
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• v.27 no.5
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• pp.421-428
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• 2014

In general, Reucedani Radix (Peucedanum japonicum Thunbergis: PJ) is the Korean traditional herbal medicine used to remove dampness, to relieve pain, and spasm. So, PJ folium is believed to have the same effects. The aim of this study is to investigate the alleviation of dextran sulfate sodium (DSS) induced ulcerative colitis in mice by PJ folium. 25 mice were divided into 5 groups: normal, DSS, DSS + 100 mg/kg PJ folium (PJ100), DSS + 500 mg/kg PJ folium (PJ500), and DSS + 150 mg/kg 5-amino salicylic acid (5-ASA) groups. Body weights, colon lengths, histological changes in colon tissue, and spleen weights were observed. Inflammatory cytokines such as IL-$1{\beta}$, IL-6, and TNF-${\alpha}$ level in plasma were measured by ELISA. IL-$1{\beta}$, IL-6, and TNF-a mRNA expression in colon tissue were detected by RT-PCR. In the results, body weight lose was inhibited in PJ100, PJ500, and 5-ASA groups, but it was not different compared with DSS group, significantly. PJ500 group showed the preventive effects of colon length shorten and histological changes in colon tissues as good as 5-ASA group. The weight of spleen was increased in DSS group but it reduced in PJ100, PJ500, and 5-ASA groups. Moreover, IL-$1{\beta}$ and TNF-${\alpha}$ cytokine levels in plasma were reduced in PJ500 and 5-ASA groups. IL-$1{\beta}$, IL-6, and TNF-a mRNA expression in colon tissue were inhibited in PJ100, PJ500, and 5-ASA groups and it was significantly different compared with DSS group. In conclusion, PJ folium showed the alleviative effect on DSS induced ulcerative colitis in mice.