• Journal of the Korean Applied Science and Technology
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• v.31 no.1
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• pp.120-129
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• 2014

The structure and physiological function of human skin continuously weaken due to growing older. The reasons of aging from external conditions are long term exposure to sun, wind, heat, cigarette smoke, and etc. This also palmitoyl oligopeptide or ceramide oligopeptide are known asc ingredient stimulating collagens and have the effect of reproducing the upper level of skin. Acetyl hexapeptide is an ingredient that makes the skin and muscle suppler and reduces wrinkles. It is a major high function beauty ingredient that substitutes botox. After dividing 7%, 14%, and 20% Acetyl hexapeptide experimental groups as groups A, B, and C the control group and experiment groups' change of wrinkles, hair follicles, moisture content, and dead skin cells was analyzed. According to the results, Acetyl hexapeptide seems to affect wrinkles, hair follicles and moisture content contrasting to the control group. Experimental groups and control group showed similar change in dead skin cells. In contrast to the control group satisfaction of examines was affected in wrinkles, hair follicles and moisture but removing dead skin cells had similar result in experimental groups and control group.

• The Journal of Korean Academy of Prosthodontics
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• v.50 no.4
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• pp.324-329
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• 2012

Excessive tooth wear causes loss of tooth structure, disharmony of occlusal plane, functional and esthetic problems. Although the decrease of occlusal vertical dimension may be compensated by growth of alveolar bone, if the length of tooth is not enough for the retention of restoration, minimum increase of occlusal vertical dimension is required without discomfort of the patient. In this case, 33-year-old woman drinks more than 1 liter of soft drinks a day and has bruxism in night time, visited in Seoul National University Dental Hospital with chief complaint of generalized tooth wear and related esthetic and functional problems. It was considered as a loss of occlusal vertical dimension based on the accelerated tooth wear caused by erosion and bruxism and facial appearance, phonetic, esthetic, functional evaluations. It was planned to raise occlusal vertical dimension by provisional restoration two times for patient's adaptation, 3 mm and 2 mm each, total 5 mm. Confirming no discomfort and clinical symptom during total 16 weeks after restoration with provisional fixed restoration, it was restored with porcelain fused to gold crown and bridge. Because the patient was young woman, anterior teeth were restored with collarless porcelain fused to gold crown. This case presents that satisfactory esthetic and functional result by full mouth rehabilitation with increase of occlusal vertical dimension.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.37-44
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• 2010

Purpose : Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. Materials and Methods : Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. Results : All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. Conclusion : Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.

• The korean journal of orthodontics
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• v.33 no.6 s.101
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• pp.485-497
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• 2003

The form and function of the craniofacial structure critically depend on genetic information. With recent advances in the molecular technology, genes that are important for normal growth and morphogenesis of the craniofacial skeleton are being rapidly uncovered, shaping up modem craniofacial biology. One of them is fibroblast growth factor receptor 2 (FGFR2). Specific point mutations in the. FGFR2 gene have been linked to Apert syndrome, which is characterized by premature closure of cranial sutures and craniofacial anomalies as well as limb deformities. To study pathogenic mechanisms underlying craniosynostosis phenotype of Apert syndrome, we used a transgenic approach; an FGFR2 minigene construct containing an Apert mutation (a point mutation that substitute proline at the position 253 to arginine; P253R) was introduced into fertilized mouse germ cells by DNA microinjection. The injected cells were then allowed to develop into transgenic mice. We used a bone-specific promoter (a DNA fragment from the type I collagen gene) to confine the expression of mutant FGFR2 gene to the bone tissue, and asked whether expression of mutant FGFR2 in bone is sufficient to cause the craniosynostosis phenotype in mice. Initial characterization of these mice shows prematurely closed cranial sutures with facial deformities expected from Apert patients. We also demonstrate that the transgene produces mutant FGFR2 protein with increased functional activities. Having this useful mouse model, we now can ask questions regarding the role of FGFR2 in normal and abnormal development of cranial bones and sutures.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.27 no.4
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• pp.350-359
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• 2005

Sagittal split ramus osteotomy(SSRO) has been commonly performed in the mandibular prognathism. The previous studies of the mandibular anatomy for SSRO have mostly been used in dry skull without consideration of age, sex or jaw relationship of patients. This study was performed to evaluate the location of mandibular canal and the anatomy of ramus, such as the location of mandibular lingula and the ramal bone marrow, which were associated with SSRO procedures, in the patients with mandibular prognathism and normal young adults by using computerized tomographs(CT) and 3D images. The young adults at their twenties, who were considered to complete their skeletal growth, and seen in the Department of Orthodontics and Oral and Maxillofacial Surgery in Chonnam National University Hospital between March 2000 and May 2003, were selected. This study was performed in 30 patients (15men, 15women) who were diagnosed as skeletal class I normal relationship, and another 30 patients (15men, 15women) who were diagnosed as skeletal class III relationship upon clinical examination and lateral cephalometric radiographs. The patients were divided into 2 groups : Class I group, the patients who had skeletal class Ⅰ normal relationship(n=30, 15men, 15women), and Class III group, the patients who had skeletal class III relationship(n=30, 15men, 15women). Facial CT was taken in all patients, and pure 3D mandibular model was constructed by V-works version 4.0. The occlusal plane was designed by three points, such as the mesiobuccal cusp of both mandibular 1st molar and the incisal edge of the right mandibular central incisor, and used as a reference plane. Distances between the tip of mandibular lingula and the occlusal plane, the sigmoid notch, the anterior and the posterior borders of ramus were measured. The height of ramal bone marrow from the occlusal plane and the distance between mid-point of mandibular canal and the buccal or lingual cortex of the mandible in the 1st and 2nd molars were measured by V-works version 4.0. Distance(Li-OP) between the occlusal plane and the tip of mandibular lingula of Class III Group was longer than that of Class I Group in men(p<0.01), but there was no significant difference in women between both groups. Distance(Li-SN) between the sigmoid notch and the tip of mandibular ligula of Class III group was longer than that of Class I Group in men(p<0.05), but there was no significant difference in women between both groups. Distance(Li-RA) between the anterior border of ramus and the tip of mandibular lingula of Class III Group was shorter than that of Class I Group in men and women(p<0.01). Distance(Li-RP) between the posterior border of ramus and the tip of mandibular lingula of Class III Group was slightly shorter than that of Class I Group in men(p<0.05), but there was no significant difference in women between both groups. Distance(RA-RP) between the anterior and the posterior borders of ramus of Class III Group was shorter than that of Class I Group in men and women(p<0.01). Longer the distance(SN-AN) between the sigmoid notch and the antegonial notch was, longer the vertical ramal length above occlusal plane, higher the location of mandibular lingula, and shorter the antero-posterior ramal length were observed(p<0.01). Height of ramal bone marrow of Class III Group was higher than that of Class I Group in men and women(p<0.01). Distance between mandibular canal and buccal cortex of Class III Group in 1st and 2nd lower molars was shorter than that of Class I Group in men and women (p<0.05 in 1st lower molar in men, p<0.01 in others). These results indicate that there are some anatomical differences between the normal occlusal patients and the mandibular prognathic patients, such as the anterior-posterior length of ramus, the height of ramal bone marrow, and the location of mandibular canal.

• The korean journal of orthodontics
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• v.36 no.4
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• pp.284-294
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• 2006

Objective: Activating mutations in the fibroblast growth factor receptor-2 (FGFR2) have been shown to cause syndromic craniosynostosis such as Apert and Crouzon syndromes. The purpose of this pilot study was to investigate the resultant phenotypes induced by the two distinctive bone-targeted gene constructs of FGFR2, Pro253Arg and Cys278Phe, corresponding to human Apert and Crouzon syndromes respectively. Methods: Wild type and a transgenic mouse model with normal FGFR2 were used as controls to examine the validity of the microinjection. Micro-CT and morphometric analysis on the skull revealed the following results. Results: Both Apert and Crouzon mutants of FGFR2 induced fusion of calvarial sutures and anteroposteriorly constricted facial dimension, with anterior crossbite present only in Apert mice. Apert mice differed from Crouzon mice and transgenic mice with normal FGFR2 in the anterior cranial base flexure and calvarial flexure angle which implies a possible difference in the pathogenesis of the two mutations. In contrast, the transgenic mice with normal FGFR2 displayed normal craniofacial phenotype. Conclusion: Apert and Crouzon mutations appear to lead to genotype-specific phenotypes, possibly causing the distinctive sites and sequence of synostosis in the calvaria and cranial base. The exact function of the altered FGFR2 at each suture needs further investigation.

• Korean Journal of Environment and Ecology
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• v.34 no.1
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• pp.1-8
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• 2020

This study conducted a full survey of the goral population using sensor cameras to identify the exact habitat of the gorals that inhabit Odaesan National Park and for restoration and habitat management-focused conservation projects following the population growth. We surveyed Odaesan National Park for a year in 2018 and selected18 grids (2km×2km) first based on the survey results. We then further divided each grid into four small grids (1km×1km) and installed a total of 62 sensor cameras in 38 small girds divided by four grids(1km×1km). The survey resulted in a total of 5,096 photographed wild animals, 2,268 of which were gorals, and the analysis by the classification table of goral (horn shape (Ⓐ), ring pattern (Ⓑ), ring formation ratio (Ⓒ), and facial color (Ⓓ)) identified a total of 95 animals. The ratio of male and female was 35 males (36.8%), 46 females (48.4%), and 14 sex unknowns (14.7%), while the ratio of female and male excluding sex unknowns was 4 (male):6 (female). The horn shape (Ⓐ) and face color (Ⓓ) were the important factors for distinguishing male and female and identifying individuals. The analysis of the correlation of 81 individuals, excluding 14 individuals of unknown sex, showed a significant difference (r=-0.635, p<0.01). Since the goral population in Odaesan National Park has reached a minimum viable population, it is necessary to change the focus of the management policy of Odaesan National Park from restoration to conservation.

• The korean journal of orthodontics
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• v.28 no.5 s.70
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• pp.825-838
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• 1998

The purpose of this study was to evaluate the differences of soft tissue profile changes between the growing patients and the adult who had passed the growth peak, in orthodontic treatment with four premolar extractions. The results which was taken by correlating the soft tissue changes with hard tissue changes, lip thickness, molar relationship and arch length discrepancy in both groups was like the followings. 1. Significant hard tissue changes were decrease of VIs, VIi, UlPP, LlMP, HIi and increase of HPog'in adults and decrease of VIs, VIi and increase of VA, VPog'and all the vertical measurements in adolescents. 2. Significant soft tissue changes were decrease of VLs, VLi, and VILS in adults and increase of VSn, VSLS, VLs, VPog' and almost all vertical measurements in adolescents, and ${\Delta}LsE,\;{\Denta}LiE$ in adults and ${\Delta}LsE,\;{\Denta}LiE,\;{\Delta}LiSP\;and\;{\Delta}Mang$ was also significant 3. Correlation coefficient between ${\Delta}VIs\;and\;{\Delta}VLs$ was the greatest in adults and the next was ${\Delta}Ii/{\Delta}Li,\;{\Delta}Ii/{\Delta}ILS,\;{\Delta}ID/{\Delta}Li\;and\;{\Delta}ID/{\Delta}ILS$. In contrast all the vertical and horizontal measurements of hard and soft tissue in adolescents showed statistically significant corerrlation. 4. There were differences in correlation between soft tissue changes and incisor inclination and retraction at both groups, but the lower lip, nasolabial angle and mentolabial angle were commonly less influenced by the hard tissue changes in both groups. 5. The thinner the upper lip was, the more the ${\Delta}LsSP$ was in both groups, and the thinner the lower lip was, the more the ${\Delta}LiE\;and\;{\Denta}LiSP$ was in adolescents. 6. Molar relationship didn't influence the soft tissue profile changes. 7. Arch length discrepancy didn't influence the soft tissue profile changes.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.85-91
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• 2017

Purpose: The aim of this study was to describe the clinical and biochemical features as well as the molecular analysis of a newly diagnosed illustrative case with ML II and to analyze the clinical features of 11 Korean patients with ML II/III. Method: Including a newly diagnosed patient, total 11 patients in 10 families were diagnosed as ML II (n=7) or ML III (n=4) were enrolled in the study. A diagnosis of ML II or III was made by demonstrating increased lysosomal enzyme activities in the plasma and sequence analysis of GNPTAB with characteristic clinical features. Result: A illustrative case of ML II patient was a 17 month-old boy showing characteristic facial appearance, multiple joint contractures with cardiac involvements. The enzyme assay showed increased lysosomal enzyme activities in the plasma. We identified compound heterozygous mutations in GNPTAB sequence analysis, including a frameshift (c.3428dupA [pAsn1143Lysfs*3]) and a nonsense variant c.673C>T (p.Gln225*). In total 11 patients with ML II/III, the patients with ML II showed severe growth retardation (height standard deviation score -3.2 [${\pm}1.5$]), compare to patients with ML III. Furthermore, patients with ML II patients had serious cardiac problem (n=4), hepatomegaly (n=3) and underwent tracheostomy (n=3) with further respiratory support due to respiratory distress. To improve osteoporosis and bone pain, all patients with ML III and four of 7 patients with ML II treated with intravenous pamidronate. Conclusion: Here we showed a newly diagnosed case of ML II and clinical features of 11 Korean patients with ML II or III. These data could be helpful for further diagnosis of mucolipidosis, a rare inherited metabolic disease, in Korea.