• Genes and Genomics
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• 제40권11호
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• pp.1149-1155
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• 2018

Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly. Objective of this study was to find out novel gene or novel mutation related to the gene phenotype. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. Exome sequencing was performed in affected siblings of the family to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation study. Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene. The mutation was ruled out in 100 unrelated healthy controls. The missense variant has not yet been reported as pathogenic in literature or variant databases. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.

• 한국콘텐츠학회논문지
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• 제19권8호
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• pp.490-499
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• 2019

얼굴인식 결제서비스는 얼굴인식 기술을 기반으로 한 혁신적인 결제 방식으로 현재 중국에서 급부상하고 있다. 향후 도입될 무인판매방식과 관련된 다양한 산업에서 얼굴인식 결제서비스를 도입할 가능성이 높다. 본 연구는 최근 얼굴인식 결제서비스를 이용한 경험이 있는 중국 소비자를 대상으로 지속이용의도에 영향을 미치는 요인을 확인하였다. 설문지 조사를 사용하고 SPSS와 AMOS로 분석하였다. 연구 결과는 다음과 같다. 첫째, 얼굴인식 결제서비스의 특징인 비접촉성/비강제성에 대한 소비자들의 태도가 좋을수록 지각된 유용성이 높게 나타났다. 둘째, 얼굴인식 결제서비스의 서비스에 대한 인식과 관련한 보안과 신속성 중 신속성이 사용용이성 인식에 긍정적인 영향을 미쳤다. 셋째, 주관적 규범과 같은 사회적인 영향이 이용의도에 영향을 미치는 것으로 나타났다. 넷째, 자기표현 욕구 수준 또한 얼굴인식 결제서비스 이용의도를 높이는 것을 확인하였다. 이런 연구결과를 통해 혁신적 서비스의 디자인과 커뮤니케이션에 대한 시사점을 논의하였다.

• 대한치과교정학회지
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• 제49권5호
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• pp.326-337
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• 2019

Objective: The objective of this study was to develop new parameters based on the foramina of the trigeminal nerve and to compare them with the conventional cephalometric parameters in different facial skeletal types. Methods: Cone-beam computed tomography (CBCT) scans and cephalograms from 147 adult patients (57 males and 90 females; mean age, 26.1 years) were categorized as Class I ($1^{\circ}$ < ANB < $3^{\circ}$), Class II (ANB > $5^{\circ}$), and Class III (ANB < $-1^{\circ}$). Seven foramina in the craniofacial area-foramen rotundum (Rot), foramen ovale (Ov), infraorbital foramen, greater palatine foramen, incisive foramen (IF), mandibular foramen (MDF), and mental foramen (MTF)-were identified in the CBCT images. Various linear, angular, and ratio parameters were compared between the groups by using the foramina, and the relationship between the new parameters and the conventional cephalometric parameters was assessed. Results: The distances between the foramina in the cranial base did not differ among the three groups. However, the Rot-IF length was shorter in female Class III patients, while the Ov-MTF length, MDF-MTF length, and Ov-MDF length were shorter in Class II patients than in Class III patients of both sexes. The MDF-MTF/FH plane angle was larger in Class II patients than in Class III patients of both sexes. Most parameters showed moderate to high correlations, but the Ov-MDF-MTF angle showed a relatively low correlation with the gonial angle. Conclusions: The foramina of the trigeminal nerve can be used to supplement assessments based on the conventional skeletal landmarks on CBCT images.

• Imaging Science in Dentistry
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• 제49권2호
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• pp.159-169
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• 2019

Purpose: Cone-beam computed tomography (CBCT) is widely used for 3-dimensional assessments of cranio-maxillo-facial relationships, especially in patients undergoing orthognathic surgery. We have introduced, for reference in CBCT cephalometry, an anatomical mid-sagittal plane (MSP) identified by the nasion, the midpoint between the posterior clinoid processes of the sella turcica, and the basion. The MSP is an updated version of the median plane previously used at our institution for 2D posterior-anterior cephalometry. This study was conducted to test the accuracy of the CBCT measures compared to those obtained using standard posterior-anterior cephalometry. Materials and Methods: Two operators measured the inter-zygomatic distance on 15 CBCT scans using the MSP as a reference plane, and the CBCT measurements were compared with measurements made on patients' posterior-anterior cephalograms. The statistical analysis evaluated the absolute and percentage differences between the 3D and 2D measurements. Results: As demonstrated by the absolute mean difference (roughly 1 mm) and the percentage difference (less than 3%), the MSP showed good accuracy on CBCT compared to the 2D plane, especially for measurements of the left side. However, the CBCT measurements showed a high standard deviation, indicating major variability and low precision. Conclusion: The anatomical MSP can be used as a reliable reference plane for transverse measurements in 3D cephalometry in cases of symmetrical or asymmetrical malocclusion. In patients who suffer from distortions of the skull base, the identification of landmarks might be difficult and the MSP could be unreliable. Becoming familiar with the relevant software could reduce errors and improve reliability.

• Archives of Plastic Surgery
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• 제46권3호
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• pp.248-254
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• 2019

Background No head to head comparison is available between surgical lip lifting and upper lip filler injections to decide which technique yields the best results in patients. Despite the growing popularity of upper lip augmentation, its effect on societal perceptions of attractiveness, successfulness and overall health in woman is unknown. Methods Blinded casual observers viewed three versions of independent images of 15 unique patient lower faces for a total of 45 images. Observers rated the attractiveness, perceived success, and perceived overall health for each patient image. Facial perception questions were answered on a visual analog scale from 0 to 100, where higher scores corresponded to more positive responses. Results Two hundred and seventeen random observers with an average age of 47 years (standard deviation, 15.9) rated the images. The majority of observers were females (n=183, 84%) of white race (n=174, 80%) and had at least some college education (n=202, 93%). The marginal mean score for perceived attractiveness from the natural condition was 1.5 points (95% confidence interval [CI], 0.9-2.18) higher than perceived attractiveness from the simulated upper lip filler injection condition, and 2.6 points higher (95% CI, 1.95-3.24) than the simulated upper lip lift condition. There was a moderate to strong correlation between the scores of the same observer. Conclusions Simulated upper lip augmentation is amenable to social perception analysis. Scores of the same observer for attractiveness, successfulness, and overall health are strongly correlated. Overall, the natural condition had the highest scores in all categories, followed by simulated upper lip filler, and lastly simulated upper lip lift.

• 한국정보통신학회논문지
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• 제23권4호
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• pp.381-387
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• 2019

의학계에 다양하게 인공지능을 적용하는데 있어 한계는 우선적으로 해석자의 병증 이미지를 해석하는데 주관적 견해와 광범위한 해석자, 육체적 피로감 등이다. 그리고 병증마다 주석 달린 데이터 셋을 수집하는데 기간이 오래 걸린다는 것과 개발된 딥러닝 학습 알고리즘의 성능 저하가 없으면서도 충분한 훈련 데이터를 얻을지에 대한 의문이 있다는 것이다. 이에 본 논문에서는 여드름 데이터 셋을 기준으로 기본 이미지를 수집할 때 선정 기준과 수집 절차에 대해 연구하고, Sequential 구조로 딥 러닝 기법을 적용하여 적은 손실률(5.46%)과 높은 정확도(96.26%)로 데이터를 분류하는 모델을 제안한다. Keras에서 기본 제공하는 모델과 비교실험을 통해 제안 모델의 성능을 비교 검증한다. 향후 본 논문에서 제안하는 여드름 분류 모델에 유사 현상들 적용하여 의학 및 피부 관리 분야에도 적용 가능할 것으로 예상된다.

• 대한치과교정학회지
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• 제51권6호
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• pp.387-396
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• 2021

Objective: To identify optimal areas for the insertion of extra-alveolar miniscrews into the infrazygomatic crest (IZC) and mandibular buccal shelf (MBS), using cone beam computed tomography (CBCT) imaging in patients with different craniofacial patterns. Methods: CBCT reconstructions of untreated individuals were used to evaluate the IZC and MBS areas. The participants were divided into three groups, based on the craniofacial pattern, namely, brachyfacial (n = 15; mean age, 23.3 years), mesofacial (n = 15; mean age, 19.24 years), and dolichofacial (n = 15; mean age, 17.79 years). In the IZC, the evaluated areas were at 11, 13, and 15 mm above the buccal cusp tips of the right and left first molars. In the MBS, the evaluated areas were at the projections of the first molars' distal roots and second molars' mesial and distal roots, at a 4- and 8-mm distance from the cementoenamel junction. Intergroup comparisons were performed with analysis of variance and the Tukey test. Results: There was no statistically significant difference in the IZC bone thickness among the groups. For MBS bone availability, some comparisons revealed no difference; meanwhile, other comparisons revealed increased MBS bone thickness in the brachyfacial (first molars distal roots) and dolichofacial (second molars mesial and distal roots) patterns. Conclusions: There was no significant difference in the IZC bone thickness among the groups. The facial skeletal pattern may affect the availability of ideal bone thickness for the insertion of extra-alveolar miniscrews in the MBS region; however, this variability is unlikely to be clinically meaningful.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제46권6호
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• pp.379-384
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• 2020

Objectives: We sought to identify a clinically useful method of analyzing orbital dystopia to aid in diagnosis and treatment planning and to quantify vertical discrepancies in eye level and variations in canthal tilt in Koreans. Patients and Methods: In 76 Korean patients with a mean age of 23.12 years, mean differences in the level of the pupils, lateral canthi, medial canthi, and canthal tilt were measured. The difference in pupil level was calculated from the perpendicular lines drawn from the midpupil area of each eye to the midline of the face to determine the amount of skeletal discrepancy of the eye. Soft tissue discrepancies were determined according to the vertical difference between the lines drawn from the lateral or medial canthus of each eye perpendicular to the midline of the face. The canthal tilt was determined from the inclination of a line connecting the lateral and medial canthi, then classified as class I, II, or III. Results: Mean differences in pupil level, medial canthi, and lateral canthi were 1.57±1.10 mm, 1.14±1.07 mm, and 2.03±1.64 mm, respectively. The mean degree of canthal tilt were 8.45°±3.53° for the right side and 8.42°±3.81° for the left side. No study participants presented with class III canthal tilt. The mean canthal tilt values for those with class I tilt were 3.21°±1.68° for the right side and 3.18°±1.63° for the left side, while, for those who had class II tilt, the values were 9.60°±3.66° for the right side and 9.54°±2.99° for the left side. Conclusion: The presented diagnostic method of orbital dystopia can be used to effectively establish a treatment plan that takes into consideration the patient's skeletal and soft-tissue discrepancies.

• 산업경영시스템학회지
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• 제44권4호
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• pp.193-207
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• 2021

As Deepfakes phenomenon is spreading worldwide mainly through videos in web platforms and it is urgent to address the issue on time. More recently, researchers have extensively discussed deepfake video datasets. However, it has been pointed out that the existing Deepfake datasets do not properly reflect the potential threat and realism due to various limitations. Although there is a need for research that establishes an agreed-upon concept for high-quality datasets or suggests evaluation criterion, there are still handful studies which examined it to-date. Therefore, this study focused on the development of the evaluation criterion for the Deepfake video dataset. In this study, the fitness of the Deepfake dataset was presented and evaluation criterions were derived through the review of previous studies. AHP structuralization and analysis were performed to advance the evaluation criterion. The results showed that Facial Expression, Validation, and Data Characteristics are important determinants of data quality. This is interpreted as a result that reflects the importance of minimizing defects and presenting results based on scientific methods when evaluating quality. This study has implications in that it suggests the fitness and evaluation criterion of the Deepfake dataset. Since the evaluation criterion presented in this study was derived based on the items considered in previous studies, it is thought that all evaluation criterions will be effective for quality improvement. It is also expected to be used as criteria for selecting an appropriate deefake dataset or as a reference for designing a Deepfake data benchmark. This study could not apply the presented evaluation criterion to existing Deepfake datasets. In future research, the proposed evaluation criterion will be applied to existing datasets to evaluate the strengths and weaknesses of each dataset, and to consider what implications there will be when used in Deepfake research.

• 대한한의학원전학회지
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• 제35권1호
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• pp.1-32
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• 2022

Objectives : This paper examines major symptoms representation in COVID-19 patients as groundwork for development of an effective clinical data collection format in Korean Medicine. Methods : Major symptoms representation in COVID-19 related papers published worldwide were collected. Corresponding symptoms in Korean Medicine were then examined, followed by discussion of symptomatic features that require further consideration in regards to a more systematic clinical data collection. Results : Of 256 papers, most papers listed fever and cough while symptoms such as difficulty breathing, diarrhea, muscle pain, headache, nausea, fatigue, chest pain, phlegm, nasal discharge were also mostly listed. Clinical representations could be categorized into general symptoms, throat symptoms, chest symptoms, head and facial symptoms, gastrointestinal symptoms, musculo-skeletal and cutaneous symptoms, psychiatric symptoms and sensory problems. Conclusions : Although each clinical representation could be likened to certain clinical representations of Korean Medicine, the variety of symptoms were too limiting and lacking in detail to be applied in the pattern identification[辨證] of Korean Medicine. For effective clinical data collection and analysis in the future, symptom change according to time, comparison between location, climate and ethnicity, existence of interior symptoms when diagnosing exterior symptoms, deficiency-excessiveness of blood patterns, consciousness levels, etc., need to be considered in establishing criteria for symptom evaluation.