• Journal of Genetic Medicine
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• v.16 no.2
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• pp.55-61
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• 2019

Purpose: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. Materials and Methods: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. Results: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. Conclusion: To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.

• The Journal of the Korea Contents Association
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• v.20 no.6
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• pp.9-25
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• 2020

As laser scan and photogrammetry are extensively applied to 3D modeling, the Retopology has become a critically important part in the 3D modeling process. However, abundant time would be wasted if the wrong method for retopology is employed. This paper aims to select the most suitable method and software for retopology for different types of models so as to increase the effectiveness of 3D modeling. In this paper, retopology is divided into three types according to the existed software for retopology in the market: manual, automatic and wrapping type, all of which are investigated by their characteristics of retopology and software in which they are applied individually. Then case production is employed on Static Mesh Skeletal Mesh and Hard Surface Modeling by the above mentioned three methods. The advantages and disadvantages of the software in which the above three methods can be applied are summed up, and the manual type produces good results, the automatic type is fast, and the wrapping type requires a pre-existing base mesh and the most suitable method for retopology for each type of 3D models is demonstrated. This paper provides reference for retopology and increases the effectiveness of 3D modeling.

• The korean journal of orthodontics
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• v.19 no.1 s.27
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• pp.201-218
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• 1989

This study was focused on the distribution of different facial types of the Class II division I malocclusion groups and skeletal characteristics of the each group and those that anteropsterior relationship of the maxilla and mandible calculated from the analysis of ANB angle and Wits appraisal was quite different from each other, as well. Cephalometric headplates of 140 persons of Class II division 1 malocclusion whose mean age was 11.2 years and 69 persons of normal occlusion whose mean age was 12.2 years were utilize as materials. Measurements were recorded, tabulated and statistically analyzed employing the tracings of the lateral cephalograms, then Class II division 1 malocclusion group was divided into 9 Types according to the angle of SNA and SNB for the anteroposterior relationship of the maxilla and mandible, another 9 Types according to the FH-NPog and SN-MP for the horisontal and vertical relationship, and the other 9 Types according to the ANB and Wits appraisal for intermaxillary relationship as well, with which was based on $Mean{\pm}$ 1SD of those of normal occlusion. The result allowed the following conclusion: 1. $37.1\%$ of population demonstrated maxilla within nounal range and retrognathic mandible to the cranial base, $30\%$ for both maxilla and mandible within normal range, $20\%$ for retrognathic maxilla and mandible and $12.9\%$ of the rest were ananged in Class II division 1 maloccusion groups. 2. Retrognathic mandible and hyperdivergent face accounted for $30.7\%$, mesognathic mandible and neutrodivergent face for $29.3\%$, mesognathic mandible and hyperdivergent face for $16.4\%$, retrognathic mandible and neutrodivergent face for $13.6\%$, mesognathic mandible and hypodivergent face for $10\%$ of population were computed in Class II division 1 malocclusion groups. 3. It was suggested that skeletal Class II malocclusion might be due to anomaly in size and shape of cranial base, underdevelopment of mandible, retropositioning of mandible, underdevelopment of posterior face against anterior face, or any combination of these factors. 4. Population with underdevelopment and / or retropositioning of the mandible showed hyperdivergent tendency of facia profile. 5. The ANB angle and Wits appraisal did not coincide the severity of anteroposterior dysplasia in $35.7\%$ of Class II division 1 malocclusion group each other, and this inconsistency was suggested to be related with mandibular rotation, inclination of cranial base, and anteroposterior position of the maxilla.

• Physical Therapy Korea
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• v.4 no.2
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• pp.1-9
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• 1997

Skeletal muscle fatigue is often associated with diminished athletic performance and inability to maintain an expected force output as a function of time. The purpose of this study was to compare the effect of duration of exercise on skeletal muscle fatigue between Weight Lifters(WL) and Non-Weight Lifters(NWL). There were twelve normal healthy adult volunteers, ranging in age from 18 to 35 years. The group consisted of six NWL and six WL. Randomized cross-over design was set up and work-rest cycle was 8 minutes work and 1 minute rest based on 15% MVC. Muscle fatigue was measured by the amount of force produced by the wrist flexor muscle and EMG amplitude over time. Repeated measures ANOVAs($2{\times}4$) were used to determine two types of subjects(WL, NWL) during four different duration of exercises(16, 32, 48, 64 minutes). The force decreased over time in NWL and WL, but there was no significant difference(F=2.83, p>0.05). However, the EMG amplitude increased in WL(0.8200) and NWL(0.6348). The WL exhibited an increase in EMG at the end of the period, especially at 48 minutes of exercises than did the NWL(F=9.58, p<.05). This suggests the WL were able to adjust to prolonged effort with adaptations in neural effect over time, resulting in higher EMG amplitude. That is, WL may be able to learn to recruit more motor units with training. It is important to the degree of neuromuscular fatigue and the time needed for recovery may differ considerably between WL and NWL, there is a need to plan proper strength training or rehabilitation protocols to match with the requirements in different characteristics of groups.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.34 no.1
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• pp.26-33
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• 2012

Purpose: The golden ratio has been used for a long time to objectify and quantify 'beauty'. Dr. Marqurardt claims that the golden ratio can be applied in the maxillofacial field as well. The purpose of this study was to evaluate the diagnostic significance of using a facial 'phi' mask for analyzing Korean faces with characteristics of Class I, II, and III malocclusion. Methods: We studied twenty five Korean celebrities' frontal facial photos (10 males, 15 females) and 90 malocclusion patients' frontal facial photos (30 patients in each malocclusion classification: Class I, Class II, and Class III). Patients who received orthodontic treatment at Samsung Medical Center were selected for this study. After superimposition of the selected facial photo and facial 'phi' mask using Adobe Photoshop CS3, the ratio of the entire facial area, mid facial area, lower facial area and horizontal and vertical lengths were measured. Results: The facial ratio in photos of Korean faces showed larger vertical and horizontal ratios than the facial 'phi' mask with golden ratio, regardless of skeletal malocclusion (entire face: 115%, lower face: 125% larger than the mask). The results of the frontal photos of Class I, II, and III malocclusion patients using facial 'phi' mask showed that the vertical length and frontal face area was more significantly influenced by the area of the lower face than the midface. This means that the lower face has larger proportions in the facial areas. Conclusion: The ratio of facial 'phi' mask is matched with the ideal facial appearance that the contemporary Korean general public is seeking. Thus, the facial 'phi' mask may be a convenient tool for esthetic analysis of Korean faces. Reducing the area of the lower face is esthetically more desirable for almost all Korean people when planning orthognathic surgery.

• The korean journal of orthodontics
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• v.26 no.5 s.58
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• pp.487-495
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• 1996

The purpose of this study was to evaluate the dentofacial characteristics and the fost-treatment dentofacial changes of those treated by four premolar extractions and to investigate the factors affecting extraction decision. The sample consisted of 35 patients (27 females, and 8 males) with no more than 7.0mm crowding, diagnosed as Class I protrusion. Pre-treatment and post-treatment lateral cephalograms were evaluated. Computerized statistical analysis was carried out using SPSS/PC+ program. The results were as follows. 1. There was no significant change in skeletal pattern after treatment while there was significant change in dentoalveolar and soft tissue pattern. 2. In pre-treatment skeletal pattern, a tendency toward vertical discrepancy was found. 3. In pre-treatment dental pattern, interincisal angle was $113.11^{\circ}$, U1 to FH was $117.78^{\circ}$ and L1 to A-Pog was 7.94mm. Pre-treatment upper and lower lip position was 2.88mm and 5.43mm to E line. 4. After treatment, interincisal angle increased $14.46^{\circ}$ and upper and lower lip moved back 2.45mm and 3.2mm to E line.(p<0.001) 5. The EI was 138.71 before treatment and 148.2 after treatment.

• Journal of Yeungnam Medical Science
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• v.12 no.2
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• pp.269-281
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• 1995

The effect of persistant mild hyperglycemic hyperinsulinemia on the development of the insulin resistance in rats was studied in vivo. Also, the characteristics of the insulin resistance compared with the insulin resistance of STZ diabetic rats. Persistant mild hyperglycemic hyperinsulinemic rat model was produced by ingestion of glucose polymer for 8 days. The glucose disappearance and infusion rate was measured by hyperinsulinemic euglycemic clamp technique at steady state of blood glucose and insulin levels. The clamped level of blood glucose was 100 mg/dl, and the clamped levels of insulin were $70{\mu}U/ml$ (physiologic condition) and $3000{\mu}U/ml$ (supramaximal condition). Hepatic glucose producticon rate was calculated using measured data. And the glycogen synthetic capacity of skeletal muscle(soleus) and liver was measured after 2 hours of hyperinsulinemic euglycemic clamp study. The glucose disappearance and glucose infusion rate in glucose polymer group was decreased in the both physiological and supramaximal insulin level compared to the rate of the normal control group. The rate of STZ diabetic group wase lowest at supramaximal insulin level among two another experimental groups. The hepatic glucose production rate of glucose polymer group was decreased compared to normal control but increased in STZ diabetic group. The glycogen synthetic capacity of skeletal muscle and liver of glucose polymer group was not significantly different from normal control group, but it was markdly decreased in STZ diabetic group. These results suggest that persistant mild hyperglycemic hyperinsulinemia may induce insulin resistance, but glycogen synthetic capacity is intact.

• Clinical and Experimental Pediatrics
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• v.55 no.2
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• pp.48-53
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• 2012

Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.14 no.12
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• pp.6461-6468
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• 2013

This research is conducted to investigate musculoskeletal diseases' that can be developed in paramedics body whose are in charge of emergency situations before they arrive at the hospital. The data were collected from 216 of paramedics from July 2, 2012 to July 31, 2012. As a result, 57.9% of participants have already felt the subjective symptoms of the muscular skeletal diseases, and 47.2% of them felt the pain on their waists and hips. These pains are highly related to their working situations. In the aspects of the muscuoskeletal diseases' symptoms, general characteristics, gender (t=16.579, p=.000), age (t=102.344, p=.000), education (t=5.363, p=.027), drinking (t=6.999, p=.030), and smoking (t=6.266, p=.009), have significance differences. Professional characteristics, career (t=67.684, p=.000), passengers of the ambulance (t=7.717, p=.004), qualification or license (t=25.480, p=.000), and position (t=74.615, p=.000), have also significance differences.

• Bulletin of the Korean Chemical Society
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• v.35 no.3
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• pp.875-880
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• 2014

Adsorption of 4,4'-bis(mercaptomethyl)biphenyl (44BMBP) on silver nanoparticles has been investigated by surface-enhanced Raman scattering (SERS) spectroscopy. In addition, the Raman spectra of 44BMBP in solid state and in basic condition have been obtained for comparative study to elicit the characteristics of adsorption. The observed Raman and SERS spectra were analyzed comparing with the normal modes and vibrational frequencies from density functional theory (DFT) calculations performed for the feasible structures of 44BMBP molecule. On the basis of excellent agreement between the calculated and the experimental results, the molecule is found to have both the cis- and trans-forms for the mercaptomethyl groups in the solid state as well as in the basic condition. In contrast, the molecule is found to be chemisorbed on the silver surface by forming two Ag-S linkages only in the cis-form but not in the trans-form due to the steric interruption, which indicates the parallel orientation of molecules on the surface. Particularly, the spectral features in the SERS spectra such as the absence of the C-H stretching band and enhancement for the out-of-plane skeletal modes are confirmatory for the parallel geometry through ${\pi}$ interaction between the phenyl rings and the metal surface, based on the electromagnetic surface selection rule.