• Journal of Genetic Medicine
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• v.19 no.2
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• KSCE Journal of Civil and Environmental Engineering Research
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• v.30 no.3D
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• pp.271-278
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• 2010

Semi rigid pavement is a pavement type using advantages of both flexibility of asphalt pavement and rigidity of concrete pavement by infiltrating cement paste into voids of open graded asphalt mixtures. The semi rigid pavement has better smoothness and smaller driving vibration or noise comparing to the concrete pavement, and has smaller permanent deformation and has temperature falling effect comparing to the asphalt pavement. The temperature falling effect were investigated at a semi rigid overlay pavement test section, and the temperature falling and water retaining effects were verified by measuring the temperature and weight of specimens at a housetop. Horizontal and vertical stresses and strains were compared by structural analysis of the semi rigid pavement and asphalt pavement using the Abaquser o, a commercial 3D finite element analysis program. The results were verified by Bisar 3.0, a multi-layered elastic analysis program. Performance of the semi rigid pavement and asphalt pavement were compared by predicting fatigue cracking based on the structural analysis results.

• Journal of Bio-Environment Control
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• v.29 no.4
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• pp.473-479
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• 2020

In this study, the structural experiment was conducted with two types of specimens to investigate the mechanical behavior of the column-rafter-purlin connection of an arch-type greenhouse under monotonic loading. Based on the experimental results, the flexural performance was analyzed for two types of connections, and connection classification was attempted. Type B showed 77% of flexural performance compared to Type A, and both types showed that the rigidity and flexural strength did not reach the level of the full rigid. The behavior of the column-rafter-purlin connection was dominated by local buckling due to deformation of the weld and fasteners. As a result of connection classification by AISC standard, both Type A and B connections showed a result that did not meet the rigid connection performance assumed during design, and were classified as simple connection. Therefore, the connection performance evaluation and classification results show that the greenhouse design should be made in consideration of connection performance and in order to design a reliable greenhouse structure, a study on establishing clear design standards for the greenhouse connection is necessary.

• The Journal of Internal Korean Medicine
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• v.42 no.5
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• pp.833-845
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• 2021

Parkinson's syndrome is a degenerative brain disease that presents characteristic motor symptoms of tremor, rigidity, and gait disturbance. In addition to these motor symptoms, Parkinson's syndrome also presents non-motor symptoms (NMSs) such as sleep disturbance and cognitive decline. NMSs reduce patient's quality of life and psychosocial functioning and cause economic burden on the patient, so appropriate evaluation and treatment are required. Lewy body dementia is one of the several diseases belonging to Parkinson's syndrome. Its symptoms such as cognitive function, memory impairment, and hallucinations occur with Parkinsonism. Although drug therapy is being used with drug treatment to treat non-motor symptoms, it has limitations such as side effects, which stimulated interest in other complementary treatment methods such as oriental medicine treatment, dance, and yoga. The patient in this case complained of tremor in the right upper extremity, muscle hypertension and pain, and persistent vision, memory, and cognitive decline. The patient was diagnosed with probable Lewy body dementia. The patient was hospitalized for 4 months and received acupuncture and herbal medicines. After treatment, the patient's NMS scale scores decreased from 90 to 63, and the Unified Parkinson's Disease Rating Scale scores (summed I, II, and III) decreased from 17 points to 8 points. The Beck Depression Inventory score decreased from 22 points to 13 points. In addition, the patient's subjective evaluation revealed improvement. In this case, a patient diagnosed with probable Lewy body dementia who did not respond to the standard treatment and did not want to take medications showed improvement in not only motor symptoms but also NMSs after integrative Korean medicine treatment.

• 재활복지
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• v.18 no.4
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• pp.237-255
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• 2014

Idiopathic Parkinson disease(IPD) is an neurodegenerative disease caused by the loss of dopamine cells in the substantia nigra, a region of midbrain. Its major symptoms are muscular rigidity, bradykinesia, resting tremor, and postural instability. An estimated 70~90% of patients with IPD also have hypokinetic dysarthria. Subthalamic nucleus deep brain stimulation (STN-DBS) has been reported to be successful in relieving the core motor symptoms of IPD in the advanced stages of the disease. However, data on the effects of STN-DBS on speech performance are inconsistent. A medline literature search was done to retrieve articles published from 1987 to 2012. The results were narrowed down to focus on speech performance under STN-DBS based perceptual, acoustic, and/or aerodynamic analyses. Among the 32 publications which dealt with speech performance after STN-DBS indicated improvement(42%), deterioration(29%), mixed results(26%), or no change(3%). The most favorite method was found to be based upon acoustic analysis by using a vowel prolongation and Unified Parkinson's Disease Rating Scale(UPDRS). For the purpose of verifying the effect of the STN-DBS, speech evaluation should be undertaken on all speech components such as articulation, resonance, phonation, respiration, and prosody by using a contextual speech task.

• Journal of Ginseng Research
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• v.25 no.3
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• pp.112-117
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• 2001

International index of erectile function (IIEF) has a high sensitivity and specificity for the evaluating treatment of erectile dysfunction. IIEF was used to evaluate on an international level the effectiveness of red ginseng on patients with erectile dysfunction and determine its possible development as a natural drug. 50 patients with erectile failure who were 20 years or older and without organic cause were randomly divided into two groups. Group 1(25 patients) received red ginseng 600mg three times a day and group 2 (25 patients) received placebo in the same fashion for 8 weeks. Each group was evaluated with IIEF at the start and end of therapy. Of the 50 patients 47 (group 1 24, group 2 23) who completed the 8 week therapy were evaluated. The mean age and symptom duration of the patients was 45.7$\pm$8.7 (27-68) and 6.2$\pm$5.6(1-29) years, respectively. Patient age, symptom duration. marriage status, marriage duration, partner age were not statistic significance between the two groups (p>0.05). Blood chemistry, urinalysis, and hormonal assay did not reveal difference between the two groups. primary efficacy (erectile rigidity and its maintenance) and all domains in secondary efficacy were significantly better after therapy in group 1 compared to those of group 2 (p<0.05) except for frequency of sexual desire, degree of sexual desire, and frequency of intercourse trial (p>0.05). Group 1 patients were significantly more satisfied after treatment compared to group 2 patients with 58.3% (14/24)and 26.1%(6/23) satisfaction rates, respectively. There were no adverse reactions or complications with ginseng adiminstration. Further study into the effects of saponin and ginsenoside that are the main substances in ginseng for erectile dysfunction is needed. In addition, its possible additive effect with ginseng and sildenafil should be elucidated in the future.

• Journal of Korean Neurosurgical Society
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• v.30 no.8
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• pp.976-980
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• 2001

Objectives : For Parkinsonian patients who had not reacted favorably on drug therapy are good candidate for ventroposterolateral pallidotomy, although not curative. We studied these patients after unilateral pallidotomy, to confirm the effectiveness and safety of this procedure. Methods : We evaluated the 17 patients with idiopathic Parkinson's diesease who had undergone unilateral posteroventral pallidotomy. All patients responded to levodopa initially. Mean age was 55 years(38-75years), and mean duration of disease was 9.8 years(3-20years). Pre-and postoperative evaluation at 3 month intervals included Unified Parkinson's Disease Rating scale(UPDRS) scoring, Hoehn and Yahr(H & Y) staging, and neuropsychological examinations. Results : Pallidotomy significantly improved parkinsonian symptom(tremor, rigidity, bradykinesia, dyskinesia, sensory symptom). Nine of 10 patients who showed dyskinesia preoperatively significant improvement. The mean dose of levodopa in 9 patients was lowered. The mean H & Y score and UPDRS score were improved in on and/or off time in 15 patients. Among patients who were not improved, one patient worsened, and the others showed no change. The mean overall UPDRS off score changed from 76 preoperatively to 44(33%) at 6 months and from 70 to 52(25%) at 1 year. Transient surgical morbidity was showen in four patients and included dysarthria, hypotonia and confusion. Conclusion : We conclude that pallidotomy is safe and effective in patients who have levodopa-reponsive parkinsonism with severe symptom fluctuation. Unilateral pallidotomy also considered helpful to ipsilateral symptom. Unilateral pallidotomy can improve all of parkinsonian's symptom and allow to reduce the levodopa medication. Most of patients show satisfactory results.

• Proceedings of the Korea Concrete Institute Conference
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• 2008.11a
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• pp.285-288
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• 2008

A model for the effective moment of inertia $I_{\epsilon}$ as expressed in Branson's equation, in which reduction of the flexural rigidity of RC beams due to cracking are aptly taken into accoun,t is presented. However, KCI Code isn`t considered tension stiffening as it is in debonding of reinforcing bar. Therefore, this equation need to set up suitable to our design Code. The experimental work consisted of casting and testing a total of 6 simply supported reinforced concrete beams and a total of 4 continuos reinforced concrete beams under two point concentrated loads. Main parameters are concrete strength, coverage, bond between concrete and reinforcing bars, are known as have an effect on deflection and tension stiffening. Every test beams had the same $250{\times}350$mm rectangular section, with a simply supported clear span of 4,400 mm and a continuos clear span of 6,500 mm. Comparison of the test results with values obtained using the KCI Code equation of the effective moment of inertia showed a noticeable difference.

• Journal of the Korean Geotechnical Society
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• v.19 no.6
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• pp.207-216
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• 2003

To evaluate the smear zone caused by the drain installation, 10 piezometers were installed in the typical soft ground in the western coastal area of Korea. The dynamic pore water pressure developed during the drain installation was monitored using piezometers installed at a distance of 10cm, 20cm, 30cm, 40cm and 50cm from the location of the drain. The decay of pore pressure with time after pushing piezometers to depths of 5 meters and 7 meters during the drain installation was monitored to assess flow and consolidation characteristics of the soil after disturbance of the soil due to the drain installation. The drain installation results in shear strain and displacement of the soil and it decreases the permeability of the soil. Hence, the comparison between dissipation of the pore water pressure process in 10 pieszometers before as well as after installation of the drain indicated the diameter of disturbance zone and smear zone, which is related to the cross-sectional dimension of the mandrel. In addition, Cone-pressuremeter(CPM) tests were performed to obtain rigidity index of the soil for an interpretation of the dissipation processes. It has been evaluated by in-situ tests that the smear zone is from 3.0 to 3.6 times of the cross-sectional dimension of the mandrel. The hydraulic conductivity expressed in terms of the coefficient of consolidation after the drain installation was calculated from 3 to 8 times decrease evaluated by Teh & Houlsby equation and CPM test results.

• 한국지구물리탐사학회:학술대회논문집
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• 2004.08a
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• pp.25-48
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• 2004

Structures show the phehomena of deformation and lowering of function with time-lapse by artificial environments and changes of geotechnical conditions or accumulation of initial deformation elements. This study aims the structural assessment of cultural property, Chum-Sung-Dae, located in Kyeongju city, Korea. It was built about 1,300 years ago, and has undergone deformation and ground-subsidence with time-lapse. Non-destructive evaluation techniques were applied to the Chum-Sung-Dae, to protect it from survey Because of this reason, 3D precise laser scanning surveying system was applied to measure the exact size of Chum-Sung-Dae, displacement and declining angles. Geophysical exploration also was applied to study the subsurface distribution of geotechnical parameters or physical properties. Natural frequencies were measured from real and model of Chum-Sung-Dae to study the dynamic characteristics of vibration and/or earthquake load and stiffness of structures.