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Mutational Analysis of MECP2 Gene in 34 Rett Syndrome (Rett 증후군 34례의 MECP2 유전자 변이에 관한 연구)

  • Park, Sang Jo;Hwang, Tae Gyu;Son, Byeong Hee;Kim, Chul Min
    • Clinical and Experimental Pediatrics
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    • v.45 no.10
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    • pp.1263-1272
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    • 2002
  • Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. Methods : Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. Results : The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. Conclusion : MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.

A Study on the Influence of Water Quality on the Phosphorus Fraction Properties from Reservoir Sediments (저수지 퇴적물로부터 인의 존재형태가 수질에 미치는 영향에 대한 연구)

  • Lee, Jin-Kyung;Ahn, Tae-Woong;Oh, Jong-Min
    • Journal of Korean Society of Environmental Engineers
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    • v.32 no.9
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    • pp.840-850
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    • 2010
  • The present study was attempted to find the effects of structural properties of phosphorus on the water quality of Gyehwa reservoir in Saemangeum. Relationship of phosphorus fractions between water and sediment properties was closely examined, and a few types of phosphorus were found from the sample sediment as : Saloid-P, Al-P, Fe-P, Ca-P, Red-P and Occd-P. Saloid-P (1.4%), Al-P (0.5%), Fe-P (39.8%), Ca-P (56.6%), Red-P (0.4%), Occd-P (1.3%) were extracted in a mass basis from the sediment of Gyehwa reservoir. Approximately more than 97% of phosphorus were calcium related phosphorus (Ca-P, 56%) and iron bound phosphorus (Fe-P, 39.8%). The Fe-P closely relates with water quality of T-N (r=0.761, p<0.05), $NO_3$-N (r=0.754, p<0.05), $NH_4$-N (r=0.728, p<0.05), T-P (r=0.774, p<0.05) and $PO_4$-P (r=0.767, p<0.05) while the Ca-P did not show any consistent dependency on the water quality. On the other hand, the correlation of Ca-P with $P_2O_5$ was high with r=0.783 (p<0.05) in the sediment. The Fe-P was affected significantly on the Ignition Loss (r=0.569, p<0.05), T-N (r=0.715, p<0.05) and T-P (r=0.983, p<0.01). In the research of correlation between phosphorus fraction and heavy metals in the sediment, Ca-P did not show any specific relationships with heavy metals. The Fe-P showed a significant correlation with As (r=0.817, p<0.01), Cu (r=0.793, p<0.05), Cd (r=0.786, p<0.05), Zn (r=0.738, p<0.05), so that it can be stated that the presence of Fe-P may implicate the volume of various metallic elements.

Negative Support Reactions of the Single Span Twin-Steel Box Girder Curved Bridges with Skew Angles (단경간 2련 강박스 거더 곡선교의 사각에 따른 부반력 특성)

  • Park, Chang Min;Lee, Hyung Joon
    • Journal of the Korea institute for structural maintenance and inspection
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    • v.16 no.4
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    • pp.34-43
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    • 2012
  • The behaviors of the curved bridges which has been constructed in the RAMP or Interchange are very complicate and different than orthogonal bridges according to the variations of radius of curvature, skew angle and spacing of shoes. Occasionally, the camber of girder and negative reactions can be occurred due to bending and torsional moment. In this study, the effects on the negative reaction in the curved bridge were investigated on the basis of design variables such as radius of curvature, skew angle, and spacing of shoes. For this study, the twin-steel box girder curved bridge with single span which is applicable for the RAMP bridges with span length(L) of 50.0m and width of 9.0m was chosen and the structural analysis to calculate the reactions was conducted using 3-dimensional equivalent grillage system. The value of negative reaction in curved bridges depends on the plan structures of bridges, the formations of structural systems, and the boundary conditions of bearing, so, radius of curvature, skew angle, and spacing of shoes among of design variables were chosen as the parameter and the load combination according to the design standard were considered. According to the results of numerical analysis, the negative reaction in curved bridge increased with an decrease of radius of curvature, skew angle, and spacing of shoes, respectively. Also, in case of skew angle of $60^{\circ}$ the negative reaction has been always occurred without regard to ${\theta}/B$, and in case of skew angle of $75^{\circ}$ the negative reaction hasn't been occurred in ${\theta}/B$ below 0.27 with the radius of curvature of 180m and in ${\theta}/B$ below 0.32 with the radius of curvature of 250m, and in case of skew angle of $90^{\circ}$ the negative reaction hasn't been occurred in the radius of curvature over 180m and in ${\theta}/B$ below 0.38 with the radius of curvature of 130m, The results from this study indicated that occurrence of negative reaction was related to design variables such as radius of curvature, skew angle, and spacing of shoes, and the problems with the stability including negative reaction will be expected to be solved as taken into consideration of the proper combinations of design variables in design of curved bridge.

Optimization of HPLC Method and Clean-up Process for Simultaneous and Systematic Analysis of Synthetic Color Additives in Foods (식품 중 타르색소의 동시분석 및 계통분석을 위한 HPLC 분석조건 및 정제과정 확립)

  • Park, Sung-Kwan;Hong, Yeun;Jung, Yong-Hyun;Lee, Chang-Hee;Yoon, Hae-Jung;Kim, So-Hee;Lee, Jong-Ok
    • Korean Journal of Food Science and Technology
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    • v.33 no.1
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    • pp.33-39
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    • 2001
  • To develop a method for separation process using Sep-pak $C_18$, simultaneous and systematic analysis of 8 permitted and 11 non-permitted synthetic food colors in Korea, optimization of analysis conditions for reverse phase ion-pair high performance liquid chromatography was carried out. For the best result of Sep-pak $C_18$ separation the pH of color standard mixture solution was $5{\sim}6$ and 0.1% HCl-methanol solution were set as eluent. The colors eluated from Sep-pak $C_18$ cartridge were determined and confirmed by high performance liquid chromatography with a photodiode array detector at 420 nm for yellow colors type, at 520 nm for red colors type, at 600 nm for blue and green colors type and at 254 nm for mixed colors. Conditions for HPLC analysis were as follows: column, Symmetry $C_18$ (5 m, 3.9 mm $i.d.{\times}150\;mm$); mobile phase, 0.025 M ammonium acetate (containing 0.01 M tetrabutylammonium bromide) : acetonitrile : methanol (65 : 25 : 10) and 0.025 M ammonium acetate(containing 0.01 M tetrabutylammonium bromide) : acetonitrile : methanol (40 : 50 : 10); flow rate, 1 mL/min. It takes 35 minutes for simultaneaus analysis and 18 minutes for systematic analysis. The detection limits range of each colors were $0.01{\sim}0.05\;{\mu}g/g$.

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Preparation of Accelerated Salt-fermented Anchovy Sauce Added with Shrimp Byproducts (새우가공부산물을 이용한 속성 멸치액젓의 제조)

  • Kim, Hye-Suk;Yang, Soo-Kyeong;Park, Chan-Ho;Han, Byung-Wook;Kang, Kyung-Tae;Ji, Seung-Gil;Sye, Youn-Eon;Heu, Min-Soo;Kim, Jin-Soo
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.34 no.8
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    • pp.1265-1273
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    • 2005
  • The purpose of this study was to prepare accelerated salt-fermented anchovy sauce using a shrimp processing byproducts (head, shell and tail) as a fermenting accelerator, and to investigate its physicochemical and enzymatic properties. Four types of sauces were prepared with 0, 10, 20, and 30$\%$ (w/w) addition of shrimp byproduct and fermented at 24$\pm$2$^{\circ}C$ for 360 days. During fermentation, all four type sauces decreased moisture content (67.5$\%$68.0$\%$ to 64.0$\∼$64.8$\%$) and pH (5.52$\∼$7.10 to 5.03$\∼$6.58), but showed increase in their crude protein (7.0$\∼$8.2 to 10.8$\%$) and volatile basic nitrogen contents (40$\∼$75 to 180$\∼$200 mg/100 g of sauce). The ratio of amino nitrogen to total nitrogen contents of control (0$\%$) and sauce with 10$\%$ shrimp byproducts (10$\%$ sauce) were maximized at 270 days, whereas 20$ \% $ and 30$\%$ added sauces were at 180 days. Endoprotease and exoprotease activities of anchovy sauces added with 20$\%$ and 30$\%$ of shrimp byproducts tend to be higher than those of control (0$\%$) and 10$\%$ addition. Proteolytic activities of sauces at pH 9 were about 2 times higher than those at pH 6. Amidolytic activities for LeuPNA decreased remarkably during fermentation, and control (0$\%$) almost lost their activity at 180 days, while additional sauces were relatively stable. These suggest that alkaline pretense of anchovy and shrimp byproducts as a endoprotease mainly contributed to the fermentation of salt-fermented sauces. The protein molecular weight distribution of sauces indicated 2 groups of peaks (peak 1,>70,000 da and peak 2, 3,000$\∼$29,000 da). As the fermentation proceeded, peak 1 tended to decrease in all of sauces, but peak 2 increased rapidly from 30 to 270 days. Optimum fermentation periods of control and 10$\%$ sauces were 270 days and those of 20$\%$ and 30$\%$ sauce were 180 days. The results suggest that shrimp byproduct can be used as accelerator of salt-fermented sauce.

Diagnosis of Seed Quality for Korean White Pine by Soft X-Ray Photographs (연(軟) X-선(線) 사진(寫眞)에 의(依)한 잣나무 종자(種子)의 품질진단(品質診斷))

  • Min, Kyung Hyun
    • Journal of Korean Society of Forest Science
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    • v.23 no.1
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    • pp.1-8
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    • 1974
  • The seed quality testing for Korean white pine (Pinus koraiensis), their pre-germination and embryo growing process were investigated and the abnormal embryo groups were discriminated by the use of soft X-ray photograph. The study results were as follows ; 1. The embryo reflection was clearly observed for air dried seeds (moisture content was 6.3%) at 30 sec, stratificated seeds at 60 sec (moisture content 24.0-36.0%) and immature seed (moisture content 41.0-64.0%) at 90sec., then the photographing variation for soft X-ray was the radiographing distance at 42cm focus M, voltage 19.5 K.V.P. and Ampere 8 mA. By the above result, the radiographing time for discriminating the embryo reflection was increased by the increase of moisture content in the seeds. 2. The embryo reflection could be clearly observed from the last ten days of June and the embryo length ratio to endosperm length was growing to 65% at the first ten days of September. By the result obtained the soft X-ray photograph was thought to be effective method for the study of inner morphology of seeds. 3. The clear reflection seeds for embryo and endorsperm were observed to 69.7% and the seeds were practically germinated to 75.2% The difference in number between the discriminated seeds by the soft X-ray photograph and the practically germinated seeds was only 6%. According to this results, the soft X-ray photograph was thought to be a effective methods for the germination diagnosis in the shortest time and with the exactness comparatively. 4. Because of the possibility of clearness for observation of pre-germination process, the soft X-ray photograph could be used for the study on the physiology of seed germination. 5. The frequency of abnormal embryos was observed of total 4.4% and their types and subtypes could be classified into twenty groups. Among these groups, single abnormal embryo type was divided into eight subtypes and observed of 2.0 percent, twin embryo was six subtypes and 1.8 percent, triple embryo was five subtypes and 0.5 percent, and inverse type was 0.12 percent.

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Suppressive Effect of Green Tea Seed Coat Ethyl Acetate Fraction on Inflammation and Its Mechanism in RAW264.7 Macrophage Cell (RAW264.7 Macrophage Cell에서 녹차씨껍질 에틸아세테이트 분획의 염증억제 효과 및 기전 연구)

  • Noh, Kyung-Hee;Jang, Ji-Hyun;Min, Kwan-Hee;Chinzorig, Radnaabazar;Lee, Mi-Ock;Song, Young-Sun
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.40 no.5
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    • pp.625-634
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    • 2011
  • Green tea seed coat (GTSC) was extracted with 100% ethanol for 4 hr and then fractionated with petroleum ether (PE), ethyl acetate (EtOAC) and butanol (BuOH). The EtOAC fraction showed the highest level in total phenol contents and the lowest level in nitric oxide (NO) production in LPS-stimulated RAW264.7 macrophage cell. Thus, this study was carried out to investigate the anti-inflammatory and its mechanisms of GTSC EtOAC fraction in LPS-stimulated RAW264.7 macrophage cell. GTSC EtOAC fraction contained EGC ($1146.48{\pm}11.01\;{\mu}g/g$), tannic acid ($966.99{\pm}32.24\;{\mu}g/g$), EC ($70.88{\pm}4.39\;{\mu}g/g$), gallic acid ($947.61{\pm}1.03\;{\mu}g/g$), caffeic acid ($37.69{\pm}1.46\;{\mu}g/g$), ECG ($35.46{\pm}3.19\;{\mu}g/g$), and EGCG ($15.53{\pm}0.09\;{\mu}g/g$) when analyzed by HPLC. NO production was significantly (p<0.05) suppressed in a dose-dependent manner with an $IC_{50}$ of $80.11\;{\mu}g$/mL. Also prostaglandin $E_2$ level was also inhibited in a dose-dependent manner. Moreover, iNOS protein expression was suppressed in dose-dependent manner but COX-2 gene expression was not affected. Total antioxidant capacity and glutathione (GSH) levels were enhanced more than the LPS-control. Expressions of antioxidative enzymes including catalase, GSH-reductase and Mn-SOD were elevated compared to LPS-control. Nuclear p65 level was decreased in the GTSC EtOAC fraction in a dose-dependent manner. These results indicate that GTSC EtOAC fraction inhibit oxidative stress and inflammatory responses through elevated GSH levels, antioxidative enzymes expressions and suppression of iNOS expression via NF-${\kappa}B$ down-regulation.

Early Life History and Reproductive Ecology of Mandarin Fish, Siniperca scherzeri (Pisces, Centropomidae) in Soyang Lake (소양호산 쏘가리 Siniperca scherzeri (Pisces, Centropomidae)의 산란 생태와 초기 생활사)

  • Lee, Wan-Ok;Lee, Jong-Yun;Son, Song-Jung;Choi, Nack-Joong
    • Korean Journal of Ichthyology
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    • v.9 no.1
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    • pp.99-107
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    • 1997
  • The early life history and reproductive ecology of Siniperca scherzeri were studied to obtain fundamental information in aquaculture and reinforcement of natural population in Soyang Lake, Buk-myon, Chunchon-shi, Kangwon-do from June to October 1996. Symptric species with adult fishes (+1 ages) of Siniperca scherzeri were 11 species belonging to 6 families and 10 genera and those with Juveniles (2~3 months) were 5 species belonging to 4 families and 5 genera. The sex radio of this species were 1 (female, 85) : 1.24 (male, 105). Adult and juvenile of this species were predominantly piscivores. Bluegill, Lepomis macrochirus, Zacco platypus, common carp, Cyprinus carpio, unidentified fish and shrimp were important components of the food items. The spherical eggs were demersal and separative without a colorless transparent chorion and slightly yellowish yolk containing one large oil globule (0.5~0.7mm). The egg just after fertilization were measuring 1.72~2.05mm (n=30), and expanded to 2.27~2.58mm (n=30) in diameter after 30 min. Hatching occurred 130~155 hrs after fertilization at water temperature of $20{\sim}25^{\circ}C$ and newly hatched larvae measuring 5.5~7.1mm in total length. In the newly hatched larvae, numerous branched malanophores were distributed on the yolk and abdomen of caudal peduncle. In ten-day old larvae, the yolk was mostly absorbed and the head spines and the teeth were well developed. All fin rays were formed and total length of the larvae were reached 13.6~15.6mm at 20 days after hatching. In fifty-five day old larvae were similar in both body shape and color to adult. The juvenile stage at 4 months after hatching were attained 86.4~95.3mm (n=7) in total length and 8.77~14.78g (n=7) in body weight.

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Egg Development and Larvae Morphology and Spawning Behavior of Five Striped Damselfish, Abudefduf vaigiensis (Pisces: Pomacentridae) Reared in the Laboratory (실험실에서 사육한 해포리고기 (Abudefduf vaigiensis)의 산란행동, 난 발생 및 자어의 형태발달)

  • Park, Jae Min;Jung, Hyun Ho;Han, Kyeong Ho;Cho, Jae Kwon;Kim, Na Ri;Kim, Jae Myoung;Baek, Jung Ik;Park, So Hyun
    • Korean Journal of Ichthyology
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    • v.25 no.2
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    • pp.82-89
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    • 2013
  • The spawning behavior, development of eggs and larvae of the Five striped damselfish, Abudefduf vaigiensis were studied. The Five striped damselfish were caught at Dolsan Island, Yeosusi, Jeollanamdo from May in 2011. As a result of observation, male fish attracted female after cleaning the rock. Female left after spawning and male protected their eggs until they had hatched out. The fertilized eggs were elliptical in shape (mean long diameter: 1.06 mm; mean short diameter: 0.55 mm) and transparent. Larvae hatched at 53 hrs after fertilization in $24.5{\sim}26.5^{\circ}C$(mean $25.0^{\circ}C$). The newly hatched larvae were 2.55~2.86 mm (mean 2.71 mm, n=10) in total length and their mouth and anus were already opened. They began to eat rotifer and transformed to postlarva stage. 3 days after hatching postlarva was measured 2.74~2.97mm(mean 2.84 mm, n=10) in total length. 10 days after hatching postlarva was measured 3.85~4.20mm(mean 4.00 mm, n=10) in total length with dosal fin rays IV-5; ventral fin rays I-3; caudal fin rays 1~2.

Analysis for the Idiopathic Facial Palsy Inpatients According to Distribution of Sasang Constitution, Hyungsang Classification and Assessment Tools (특발성 안면신경마비 환자에 대한 사상체질.형상별 분포 및 평가도구에 따른 분석)

  • Lee, Seung Hwon;Lee, Eun Sol;Seo, Dong Kyun;Lee, Kyeong A;Kim, Jung Hee;Hong, Chang Ho;Jang, Sun Hee;Youn, Hyoun Min;Jang, Kyung Jeon;Song, Choon Ho;Kim, Cheol Hong
    • Journal of Acupuncture Research
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    • v.30 no.4
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    • pp.55-68
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    • 2013
  • Objectives : The purpose of this study is to analyze the distribution, relationship, prognosis and improvement score of idiopathic facial palsy inpatients according to constitutional differentiation ; Sasang constition, Hyungsang classification, Sasang constition combined with Hyungsang classification. Methods : A study was done on 102 patients who were diagnosed and treated as idiopathic facial palsy from April 2012 to Nomember 2012 at the Department of Acupuncture and Moxibution Medicine, Dong-eui Oriental University Hospital. Medical records of inpatinets who underwent facial ENoG, NET test were analyzed. Changes of HBGS grade and Yanagihara's score were also evaluated. We classified inpaients acording to Sasang constitution by consulting to Department of Sasang constitutinal medicine, and to Hyungsang classification(Dam-body, Bangkwang-body) by measuring under medical system of 3D facial shapes(RS-400FL). The constitutional differentiation and general characteristics were initially analyzed, and valuse on ENoG, NET were correlated with constitutinal differentiation. Results of HBGS and Yanagihara's score were also correlated with constitutinal differentiation. Results : 1. Each 39.2 percent of idiopathic facial palsy inpatients were the Taeeumin and Soyangin, 21.6 percent were the Soeumin. 2. 75.5 percent of idiopathic facial palsy inpatients were the Bangkwang-body, 24.5 percent were the Dam-body. 3. 34.3 percent of idiopathic facial palsy inpatinets were the Taeeum-Bangkwang, 21.6 percent were the Soyang-Bangkwang, 19.6 percent were the Soeum-Bangkwang, 17.6 percent were the Soyang-Dam, 4.9 percent were the Taeem-Dam, 2 percent were the Soeum-Dam. 4. By sex, the each ratio of Taeeumin, Soeumin, Bangkwang-body, Taeeum-Bangkwang, Soeum-Bangkwang, Soyang-Bangkwang was higher in female, that of Dam-body, Taeeum-Dam, Soyang-Dam was higher in male. 5. By relations between Sasang constitution and Hyungsang classification, the each ratio of Taeeumin and Soeumin was higher in Bangkwang-body. 6. By values on ENoG and NET, evaluations of HBGS's grade and Yanagihara's score, there were no significant difference. Conclusions : In idiopathic facial palsy inpatients, the proportion of Taeeum and Soyang among the Sasang constitution was higher, that of Dam among the Hyungsang classification was higher, that of Taeeum-Bangkwang among the Sasang combined with Hyungsang was the highest. It would seem that Bangkwang-body, female were closely related to Taeeumin, Soeumin. Also, Dam-body were closely related to male. But when comparing groups, there was no statistically significant difference in prognosis and improvement.