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Association between MIR149 SNPs and Intrafamilial Phenotypic Variations of Charcot-Marie-Tooth Disease Type 1A (샤르코-마리-투스병 1A형(CMT1A)의 가족내 표현형적 이질성과 MIR149 SNP에 대한 연관성 연구)

  • Choi, Yu Jin;Lee, Ah Jin;Nam, Soo Hyun;Choi, Byung-Ok;Chung, Ki Wha
    • Journal of Life Science
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    • v.29 no.7
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    • pp.800-808
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    • 2019
  • Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.

Changes in Aquatic Insect Community Structure in Wonju Stream based on a Comparison of Previous Studies (과거 문헌 비교를 통한 원주천 수서곤충 군집구조 변화)

  • Han, Jung Soo;Choi, Jun Kil;Won, Kyung Ho;Lee, Hwang Goo
    • Korean Journal of Environmental Biology
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    • v.36 no.3
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    • pp.400-411
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    • 2018
  • This study was a survey of the Wonju stream in Wonju city from May 2015 to September 2016. A total of three sites were selected from the upstream area Gwanseol-dong to the downstream area Hojeo-myeon. Physicochemical analysis, aquatic insect changes, cluster analysis, functional group analysis, rarefaction curve, and statistical analysis were compared between 2004 and 2016. A total of 19 species (38.78%) in 2004 and 22 species (36.67%) in 2016 were analyzed, with the largest number belonging to ephemeroptera. The individual ratio ranged from 27,759.2 (ind. $m^{-2}$, 84.30%) in 2004 to 4,573.2 (ind. $m^{-2}$, 41.64%) in 2016, with the highest number involving diptera. As a result of the community analysis, significant differences were detected in the indices of dominance, diversity, evenness, and richness in 2004 and 2016 (p<0.05). Burrowers of the habitat orientation groups showed the greatest variation with an average of -68.00% (${\pm}2.15$) and the collector-gatherers of the functional feeding groups showed the highest variation of -40.12% (${\pm}1.77$). The rarefaction curve analysis suggested that the species was the poorest in the midstream regions in 2004 and 2016. Physical factors and water quality showed a significant correlation with diversity index, evenness index, and the number of individuals. MDS analysis of the similarity of upstream and downstream regions was high in 2004, and low in 2016. The differences were attributed to physicochemical changes such as increase in flow velocity due to improvement of small dams and changes in bottom structure.

Evaluation of the Accuracy and usability of Trigger mode in Respiratory Gated Radiation Therapy (호흡동조방사선치료를 위한 Trigger mode 투시영상 획득 시 호흡 속도에 따른 정확성 평가 - Phantom Study)

  • Park, je wan;Kim, min su;Um, ki cheon;Choi, seong hoon;Song, heung kwon;Yoon, in ha
    • The Journal of Korean Society for Radiation Therapy
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    • v.33
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    • pp.25-33
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    • 2021
  • Purpose : The purpose of this study is to evaluate the accuracy and usefulness of the Trigger mode for the Respiratory Gated Radiation Therapy (RGRT) Materials and methods : A QUASAR respiratory phantom that inserted a 3 mm fiducial marker (a gold marker) was used to estimate the accuracy of the Trigger mode. And the 20 bpm was used as reference respiration rate in this study. The marker that placed at the center of the phantom was contoured, and the lower threshold of a gating window was fixed at 2.0 mm using an OBI with Truebeam STxTM. The upper threshold was measured every 0.5 mm from 1.0 mm to 3.0 mm. The respiration rates were changed every 10 bpm from 10 bpm to 60 bpm. We repeatedly measured five times to check the error rate of the trigger mode in the same condition. Result : The differences of a distance from a peak phase to upper threshold, 1.0 to 3.0 mm at a 20 bpm as a reference for 3 days in a row were 0.68±0.05 mm, 0.91±0.03 mm, 1.23±0.03 mm, 1.42±0.04 mm, and 1.66±0.06 mm, respectively. Measurement result of changes in respiratory rate compared to baseline respiratory rate in maximum absolute difference. The coefficient of determination (R2) to estimate the correlation between the respiration velocity and variation of absolute difference was on average 0.838, 0.887, 0.770, 0.850, and 0.906. The p-values of all the variables were below 0.05. Conclusion : Using Trigger mode during respiratory gated radiation therapy (RGRT), accuracy and usefulness of trigger mode at reference breathing rate were confirmed. However, inaccuracies depending on the rate of breathing it could be uncertain in case of respiration rate is faster than 20 bpm as a standard respiration rate compared to slower than 20 bpm. Consequently, when conducting a RGRT using the trigger mode, real time monitoring is required with well educated respiration.

The Characteristics and the Effects of Pollutant Loadings from Nonpoint Sources on Water Quality in Suyeong Bay (수영만 수질에 미치는 비점원 오염부하의 특성과 영향)

  • CHO Eun Il;LEE Suk Mo;PARK Chung-Kil
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.28 no.3
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    • pp.279-293
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    • 1995
  • The most obvious and easily recognizable sources of potential water pollution are point sources such as domestic and industrial wastes. But recently, the potential effects of nonpoint sources on water quality have been increased apparently. In order to evaluate the characteristics and the effects of nonpoint sources on water quality, this study was performed in Suyeong Bay from May, 1992 to July, 1992. The depth-averaged 2-dimensional numerical model, which consists of the hydrodynamic model and the diffusion model was applied to simulate the water quality in Suyeong Bay. When flowrate was $65.736m^3/s,$ the concentration of pollutants (COD, TSS and VSS) at Oncheon stream (Sebeong bridge) during second flush were very high as much as 121.4mg/l of COD, 1148.0mg/l of TSS and 262.0mg/1 of VSS. When flowrate was 4.686m^3/s, the concentration of pollutants $(TIN,\;NH_4\;^+-\;N,\;NO_2\;^--N\;and\;PO_4\;^{3-}-P)$ during the first flush were very high as much as 20.306mg/1 of TIN, 14.154mg/1 of $NH_4\;^+-N$, 9.571mg/l of $NO_2\;^--N$ and l.785mg/l of $PO_2\;^{3-}-P$ As results of the hydrodynamic model simulation, the computed maximum velocity of tidal currents in Suyeong Bay was 0.3m/s and their direction was clockwise flow for ebb tide and counter clockwise flow for Hood tide. Four different methods were applied for the diffusion simulation in Suyeong Bay. There were the effects for the water quality due to point loads, annual nonpoint loads and nonpoint loads during the wet weather and the investigation period, respectively. The efforts of annual nonpoint loads and nonpoint loads during the wet weather seem to be slightly deteriorated in comparison with the effects of point loads. However, the bay was significantly polluted by the nonpoint loads during the investigation period. In this case, COD and SS concentrations ranged 2.0-30.0mg/l, 7.0- 200.0mg/l in ebb tide, respectively. From these results, it can be emphasized that the large amount of pollutants caused by nonpoint sources during the wet weather were discharged into the bay, and affected significantly to both the water quality and the marine ecosystem. Therefore, it is necessary to consider the loadings of nonpoint pollutants to plan wastewater treatment plant.

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Pilot-scale Applications of a Well-type Reactive Barrier using Autotrophic Sulfur-oxidizers for Nitrate Removal (독립영양 황탈질 미생물을 이용한 관정형 반응벽체의 현장적용성 연구)

  • Lee, Byung-Sun;Um, Jae-Yeon;Lee, Kyu-Yeon;Moon, Hee-Sun;Kim, Yang-Bin;Woo, Nam-C.;Lee, Jong-Min;Nam, Kyoung-Phile
    • Journal of Soil and Groundwater Environment
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    • v.14 no.3
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    • pp.40-46
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    • 2009
  • The applicability of a well-type autotrophic sulfur-oxidizing reactive barrier (L $\times$ W $\times$ D = $3m\;{\times}\;4\;m\;{\times}\;2\;m$) as a long-term treatment option for nitrate removal in groundwater was evaluated. Pilot-scale (L $\times$ W $\times$ D = $8m\;{\times}\;4\;m\;{\times}\;2\;m$) flow-tank experiments were conducted to examine remedial efficacy of the well-type reactive barrier. A total of 80 kg sulfur granules as an electron donor and Thiobacillus denitrificans as an active bacterial species were prepared. Thiobacillus denitrificans was successfully colonized on the surface of the sulfur granules and the microflora transformed nitrate with removal efficiency of ~12% (0.07 mM) for 11 days, ~24% (1.3 mM) for 18 days, ~45% (2.4 mM) for 32 days, and ~52% (2.8 mM) for 60 days. Sulfur granules attached to Thiobacillus denitrificans were used to construct the well-type reactive barrier comprising three discrete barriers installed at 1-m interval downstream. Average initial nitrate concentrations were 181 mg/L for the first 28 days and 281 mg/L for the next 14 days. For the 181 mg/L (2.9 mM) plume, nitrate concentrations decreased by ~2% (0.06 mM), ~9% (0.27 mM), and ~15% (0.44 mM) after $1^{st}$, $2^{nd}$, and $3^{rd}$ barriers, respectively. For the 281 mg/L (4.5 mM) plume, nitrate concentrations decreased by ~1% (0.02 mM), ~6% (0.27 mM), and ~8% (0.37 mM) after $1^{st}$, $2^{nd}$, and $3^{rd}$ barriers, respectively. Nitrate plume was flowed through the flow-tank for 49 days by supplying $1.24\;m^3/d$ of nitrate solution. During nitrate treatment, flow velocity (0.44 m/d), pH (6.7 to 8.3), and DO (0.9~2.8 mg/L) showed little variations. Incomplete destruction of nitrate plume was attributed to the lack of retention time, rarely transverse dispersion, and inhibiting the activity of denitrification enzymes caused by relatively high DO concentrations. For field applications, it should be considered increments of retention time, modification of well placements, and intrinsic DO concentration.

Study on 6 MV Photon beam Dosimetry by Asymmetric Collimator Variation of Linear Accelerator (6MV 선형가속기의 비대칭 조사야의 변화에 따른 선량분포)

  • Yoon, Joo-Ho;Lee, Chul-Soo;Yum, Ha-Yong
    • The Journal of Korean Society for Radiation Therapy
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    • v.12 no.1
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    • pp.91-104
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    • 2000
  • Recently linear accelerator in radiation therapy in asymmetric field has been easily used since the improvement and capability of asymmetrical field adjustment attached to the machine. It has been thought there have been some significant errors in dose calculation when asymmetrical radiation fields have been utilized in practice of radiation treatments if the fundamental data for dose calculation have been measured in symmetrical standard fields. This study investigated how much the measured data of dose distributions and their isodose curves are different between in asymmetrical and symmetrical standard fields, and how much there difference affect the error in dose calculation in conventional method measured in symmetrical standard field. The distributions of radiation dose were measured by photon diode detector in the water phantom (RFA-300P, Scanditronix, Sweden) as tissue equivalent material on utilization of 6 MV linear accelerator with source surface distance (SSD) 1000 mm. The photon diode detector has the velocity of 1 mm per second from water surface to 250 mm depth in the field size of $40mm{\times}40mm\;to\;250mm{\times}250mm\;symmetric\;field\;and\;40mm{\times}20mm\;to\;250mm{\times}125mm$ asymmetrical fields. The measurements of percent depth dose (PDD) and subsequent plotting of their isodose curves were performed from water surface to 250mm dmm from Y-center axis in $100mm{\times}50mm$ field in order to absence the variability of depth dose according to increasing field sizes and their affects to plotted isodose curves. The difference of PDD between symmetric and asymmetric field was maximum $4.1\%\;decrease\;in\;40mm{\times}20mm\;field,\;maximum\;6.6\%\;decrease\;in\;100mm{\times}50mm\;and\;maximum\;10.2\%\;decrease\;200mm{\times}100mm$, the larger decrease difference of PDD as the greater field size and as greater the depth, The difference of PDD between asymmetrical field and equivalent square field showed maximum $2.4\%\;decrease\;in\;60mm{\times}30mm\;field,\;maximum\;4.8\%\;decrease\;in\;150mm{\times}75mm\;and\;maximum\;6.1\%\;decrease\;in\;250mm{\times}125mm$, and the larger decreased differenced PDD as the greater field size and as greater the depth, these differences of PDD were out of $5\%$ of dose calculation as defined by international Commission on radiation unit and Measurements(ICRU). In the dose distribution of asymmetrical field (half beam) the plotted isodose curves were observed to have deviations by decreased PDD as greater as the blocking of the beam moved closer to the central axis, and as the asymmetrical field increased by moving the block 10 mm keeping away from the central axis, the PDD increased and plotted isodose curves were gradually more flattened, due to reduced amount of the primary beam and the fraction of low energy soft radiations by passing thougepth in asymmetrical field by moving independent jaw each 10 h beam flattening filter. As asymmetrical radiation field as half beam radiation technique is used, the radiation dosimetry calculated in utilizing the fundamental data which measured in standard symmetrical field should be converted on bases of nearly measured data in asymmetrical field, measured beam data flies of various asymmetrical field in various energy and be necessary in each institution.

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PERIPHERAL NERVE REGENERATION USING POLYGLYCOLIC ACID CONDUIT AND BRAIN-DERIVED NEUROTROPHIC FACTOR GENE TRANSFECTED SCHWANN CELLS IN RAT SCIATIC NERVE (BDNF 유전자 이입 슈반세포와 PGA 도관을 이용한 백서 좌골신경 재생에 관한 연구)

  • Choi, Won-Jae;Ahn, Kang-Min;Gao, En-Feng;Shin, Young-Min;Kim, Yoon-Tae;Hwang, Soon-Jeong;Kim, Nam-Yeol;Kim, Myung-Jin;Jo, Seung-Woo;Kim, Byung-Soo;Kim, Yun-Hee;Kim, Soung-Min;Lee, Jong-Ho
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.30 no.6
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    • pp.465-473
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    • 2004
  • Purpose : The essential triad for nerve regeneration is nerve conduit, supporting cell and neurotrophic factor. In order to improve the peripheral nerve regeneration, we used polyglycolic acid(PGA) tube and brain-derived neurotrophic factor(BDNF) gene transfected Schwann cells in sciatic nerve defects of SD rat. Materials and methods : Nerve conduits were made with PGA sheet and outer surface was coated with poly(lactic-co-glycolic acid) for mechanical strength and control the resorption rate. The diameter of conduit was 1.8mm and the length was 17mm Schwann cells were harvested from dorsal root ganglion(DRG) of SD rat aged 1 day. Schwann cells were cultured on the PGA sheet to test the biocompatibility adhesion of Schwann cell. Human BDNF gene was obtained from cDNA library and amplified using PCR. BDNF gene was inserted into E1 deleted region of adenovirus shuttle vector, pAACCMVpARS. BDNF-adenovirus was multiplied in 293 cells and purified. The BDNF-Adenovirus was then infected to the cultured Schwann cells. Left sciatic nerve of SD rat (250g weighing) was exposed and 14mm defects were made. After bridging the defect with PGA conduit, culture medium(MEM), Schwann cells or BDNF-Adenovirus infected Schwann cells were injected into the lumen of conduit, respectively. 12 weeks after operation, gait analysis for sciatic function index, electrophysiology and histomorphometry was performed. Results : Cultured Schwann cells were well adhered to PGA sheet. Sciatic index of BDNF transfected group was $-53.66{\pm}13.43$ which was the best among three groups. The threshold of compound action potential was between 800 to $1000{\mu}A$ in experimental groups which is about 10 times higher than normal sciatic nerve. Conduction velocity and peak voltage of action potential of BDNF group was the highest among experimental groups. The myelin thickness and axonal density of BDNF group was significantly greater than the other groups. Conclusion : BDNF gene transfected Schwann cells could regenerate the sciatic nerve gap(14mm) of rat successfully.

Effect on Digestion Efficiency by Adding Microbial Agent in Mesophilic Two-stage Anaerobic Digester (중온2단혐기성소화조에 미생물제재 주입시 소화효율에 미치는 영향)

  • Jung, Byung-Gil;Kim, Seok-Soon;Kang, Dong-Hyo;Sung, Nak-Chang;Choi, Seung-Ho;Lee, Hee-Pom
    • Journal of the Korea Organic Resources Recycling Association
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    • v.11 no.3
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    • pp.75-86
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    • 2003
  • In the near future, the capacity of conventional anaerobic digester is thought to be insufficient because of the increase of the total solids from expansion of intercepting sewer, sewage quantity and direct input of night soil from near apartment districts. The objectives of this study was to investigate the improvement of digestion efficiency using microbial agent(Bio-dh). The system was a pilot-scale, two-staged, anaerobic sludge digestion system. The first-stage digester was heated and mixed. The agitation velocity of the first-stage digester was 120rpm. The second-stage digester was neither heated nor mixed. The Digestion temperature was kept at $35{\pm}1^{\circ}C$ The detention time of digester was 19 days. The dosage of sewage sludge and microbial agent were $0.65m^3/day$ and $0.5{\ell}/day$, respectively. The experiments was run for 25days. Three times a week, $COD_{Mn}$ and SS of effluent, TS, VS, and biogas production rate were measured. Temperature, pH, and alkalinity were measured daily. The results were as follows ; Without microbial agent, digestion efficiencies ranged 46.0%~50.9%(mean=48.6%), with microbial agent(Bio-dh), digestion efficiencies ranged 52.8%~57.3%(mean=54.2%). Consequently, microbial agent(Bio-dh) increased the sludge digestion efficiency about 12%. Also, Without microbial agent, the mean concentration of $COD_{Mn}$ and SS of second-stage digester effluent were 1,639mg/L, 4,888mg/L respectively. With microbial agent, the mean concentration of $COD_{Mn}$ and SS of second-stage digester effluent were 859mg/L, 2,405mg/L respectively. Consequently, microbial agent(Bio-dh) increased the removal efficiency of $COD_{Mn}$ and SS about 47.6% and 50.8%, respectively.

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Koreanized Analysis System Development for Groundwater Flow Interpretation (지하수유동해석을 위한 한국형 분석시스템의 개발)

  • Choi, Yun-Yeong
    • Journal of the Korean Society of Hazard Mitigation
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    • v.3 no.3 s.10
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    • pp.151-163
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    • 2003
  • In this study, the algorithm of groundwater flow process was established for koreanized groundwater program development dealing with the geographic and geologic conditions of the aquifer have dynamic behaviour in groundwater flow system. All the input data settings of the 3-DFM model which is developed in this study are organized in Korean, and the model contains help function for each input data. Thus, it is designed to get detailed information about each input parameter when the mouse pointer is placed on the corresponding input parameter. This model also is designed to easily specify the geologic boundary condition for each stratum or initial head data in the work sheet. In addition, this model is designed to display boxes for input parameter writing for each analysis condition so that the setting for each parameter is not so complicated as existing MODFLOW is when steady and unsteady flow analysis are performed as well as the analysis for the characteristics of each stratum. Descriptions for input data are displayed on the right side of the window while the analysis results are displayed on the left side as well as the TXT file for this results is available to see. The model developed in this study is a numerical model using finite differential method, and the applicability of the model was examined by comparing and analyzing observed and simulated groundwater heads computed by the application of real recharge amount and the estimation of parameters. The 3-DFM model is applied in this study to Sehwa-ri, and Songdang-ri area, Jeju, Korea for analysis of groundwater flow system according to pumping, and obtained the results that the observed and computed groundwater head were almost in accordance with each other showing the range of 0.03 - 0.07 error percent. It is analyzed that the groundwater flow distributed evenly from Nopen-orum and Munseogi-orum to Wolang-bong, Yongnuni-orum, and Songja-bong through the computation of equipotentials and velocity vector using the analysis result of simulation which was performed before the pumping started in the study area. These analysis results show the accordance with MODFLOW's.

Endocrine Function and Growth in Children with Craniopharyngioma (소아 두개인두종 환자에서 치료 전후의 뇌하수체 기능과 성장 및 체중 변화)

  • Chung, Yoo Mi;Shin, Choong Ho;Yang, Sei Won
    • Clinical and Experimental Pediatrics
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    • v.46 no.3
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    • pp.277-283
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    • 2003
  • Purpose : Craniopharyngiomas are often accompanied by severe endocrine disorders. Although there is universal growth hormone deficiency(GHD), the resulting growth pattern is very heterogeneous. We report the growth and endocrine outcome of 44 children with craniopharyngioma, with emphasis on initial symptoms, growth before and during growth hormone(GH) treatment and spontaneous growth in spite of GHD. Methods : We performed a retrospective study of 44 children treated at our centre between 1984 and 2002. Results : About 30% of patients had symptoms suggesting endocrine disorder at diagnosis. After surgery, multiple endocrinopathies were almost universal. Before GH therapy, height velocity was $8.00{\pm}2.71cm/yr$ in the normal growth group(n=11) and $1.79{\pm}1.10cm/yr$ in the subnormal growth group(n=7) during the first year and during the second year, $6.76{\pm}2.49cm/yr$ and $2.29{\pm}1.33cm/yr$, respectively. There was no difference of body mass index(BMI) change between before and after surgery in the two groups. Height standard deviation score(SDS) was $-1.46{\pm}0.74$ in the normal growth group and $-0.43{\pm}0.97$ in the subnormal growth group. Before GH treatment height SDS was $-1.31{\pm}1.25$ and BMI was $20.46{\pm}3.60$. During GH treatment, height SDS increased to $-0.60{\pm}1.37$ in the first, and to $-0.41{\pm}1.54$ in the second year(P<0.05), but BMI did not change significantly. Conclusion : The endocrine morbidity could develop in most children with craniopharyngioma before and after the operation and should be managed properly. Although all treated patients benefit from GH therapy, further studies are necessary to find out the possible mechanism of growth regulation in normally growing children, despite GH deficient.