• 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.

• The korean journal of orthodontics
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• v.30 no.5 s.82
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• pp.657-668
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• 2000

The purpose of this study was to evaluate the amount and interrelationship of the soft tissue of nose and maxillary changes and to identify the nasal morphologic features that indicate susceptibility to nasal deflection in such a manner that they would be useful in presurgical prediction of nasal changes after maxillary advancement surgery in skeletal Class III malocclusion. The sample consisted of 25 adult patients (13 males and 12 females) who had severe anteroposterior skeletal discrepancy. The patients had received presurgical orthodontic treatment. They underwent a Le Fort I advancement osteotomy, rigid internal fixation, alar cinch suture and V-Y advancement lip closure. The presurgical and postsurgical lateral cephalograms and lateral and frontal facial photographs were evaluated. The computerized statistical analysis was carried out. Soft tissue of nose change to h point change ratios were calculated by regression equations. The results were as follows 1. The correlation of maxillary hard tissue horizontal changes and nasal soft tissue vortical changes were high and the ${\beta}_0$ for soft tissue to ADV were 0.228 at ANt, 0.257 at SNt. 2. The correlation of maxillary hard tissue and nasal soft tissue horizontal changes were high and the ${\beta}_0$ for soft tissue to ADV were 0.484 at ANt, 0.431 at SNt, 0.806 at Sn. 3. The correlation of maxillary hard tissue horizontal changes and width changes of ala of nose were high and the ${\beta}_0$ lot alar base width ratio to ADV were 0.002. 4. The DRI, Prominence of nose, Pre-Op CA is not a quantitative measure that can be used clinically to improve the predictability of vertical and horizontal nasal tip deflection. In this study, increases in nasal tip projection and anterosuperior rotation occur when there is an anterior vector of maxillary movement. These nasal changes were Quantitatively correlated to magnitude of maxillary(A point) movement.

• The Journal of Internal Korean Medicine
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• v.28 no.1
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• pp.47-67
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• 2007

Objectives : This study was aimed to investigated the warning signs and its relationship with the other characteristics in acute stroke patients. Methods : 225 acute stroke patients were recruited at the Department of Cardiovascular and Neurologic Diseases (Stroke Center) of Kyung Hee University Oriental Hospital from October 2005 to September 2006. We evaluated their stroke type with brain MRI, their warning signs, and general characteristics such as age, sex, past history, risk factors, etc. Results : 225 subjects were included in the final analysis. In the subjects' general characteristics, the most common etiology of stroke was small vessel occlusion. In the assessment of the subjects' warning signs, the frequency of tension felt at the cervical area was highest followed by blepharospasm, sensory dysfunction (one side of numbness, tingling sensation, dead sensation), one side paralysis or weakness, etc. After analyzing etiology, cerebral hemorrhage had more facial spasm sign and hypertension than cerebral infarction. On the other hand, cerebral infarction had more diabetes and sensory dysfunction (one side of numbness, tingling sensation, dead sensation) than cerebral hemorrhage. Among stroke locations, subjects with their brain lesion in the cortex had more warning sings of motor dysfunction such as one side paralysis, or weakness. Multiple lesions showed a close relationship with smoking habit and were more common in males than in females. The under 65 years old group were more commonly associated with alcohol consumption, accidental mental stress and blepharospam than the over 65 years old group. In the group of under 65 years old, males more commonly had lesions in occipital lobe, alcohol consumption and smoking habit than females. Otherwise, females more commonly had vision dysfunction and blepharospasm than males. In the group of over 65 years old, males more commonly had cortex lesion than females. On the other hand, Females more commonly had accidental mental stress than males. Conclusions : We observed various warning signs and their distribution in acute stroke patients. The subjects' brainlesions and their etiology seemed to affect the features of the warning signs. Hypertension, diabetes and hyperlipidemia were also related to etiology of stroke and some habitual problems such as smoking and drinking seemed to reduce the age of stroke ictus. Although a concrete conclusion can hardly be drawn from this study, it reminds physicians of the importance of warning signs which appear among their patients.

• The Journal of Art Theory & Practice
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• no.8
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• pp.33-58
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• 2009

This paper examines four genre paintings on the subject of child education by Jean-Baptiste-Sim${\'{e}}$on Chardin(1699-1779). The Governess, The Diligent Mother, Saying Grace, and The Morning Toilette garnered critical attention after they were exhibited in the Salon from 1739 to 1741. After the exhibition, the paintings were made into prints and frequently sold to members of the bourgeois class in Paris. The iconographical details of Chardin's genre paintings have, thus far, been compared to Dutch genre pictures of the seventeenth century. Further, most studies conducted on Chardin's paintings focus on formal analysis rather than the historical and social contexts. Through attempting social-contextual readings of Chardin's educational series, this paper argues that the significance of Chardin's painting series of child education lies in his representation of the ideal French bourgeois family and the standard of early childhood education in the eighteenth-century French Enlightenment period. In each of the four child education paintings, Chardin depicted a mother with children in a domestic space. Even though this theme derives from traditional Dutch genre paintings in the seventeenth century, the visual motifs, the pictorial atmosphere and the painting techniques of Chardin all project the social culture of eighteenth century France. Each painting in the child education series exemplifies respectively the attire of a French gentlemen, the social view on womanhood and the education of girls, newly established table manners, and the dressing up culture in a 'toilette' in eighteenth century France. Distinct from other educational scenes in previous genre paintings, Chardin accentuated the naive and innocent characteristics of a child and exemplified the mother's warmth toward that child in her tender facial expressions and gesturing. These kinds of expressions illustrate the newly structured standard of education in the French Enlightenment period. Whereas medieval people viewed children as immature and useless, people in the eighteenth century began to recognize children for their more positive features. They compared children to a blank piece of paper (tabula rasa), which signified children's innocence, and suggested that children possess neither good nor bad virtues. This positive perspective on children slowly transformed the pedagogical methods. Teaching manuals instructed governesses and mothers to respect each child's personality rather than be strict and harsh to them. Children were also allotted more playtimes, which explains the display of various toys in the backgrounds of Chardin's series of four paintings. Concurrently, the interior, where this exemplary education was executed, alludes to the virtue of the bourgeois's moderate and thrifty daily life in eighteenth century France. While other contemporary painters preferred to depict the extravagant living space of a French bourgeoisie, Chardin portrayed a rather modest and cozy home interior. In contrast to the highly decorated living space of aristocrats, he presented the realistic, humble domestic space of a bourgeois, filled with modern household objects. In addition, the mother is exceptionally clad in working clothes instead of fashionable dresses of the moment. Fit to take care of household affairs and children, the mother represents the ideal virtues of a bourgeois family. It can be concluded that the four genre paintings of child education by Chardin articulate the new standards of juvenile education in eighteenth century France as well as the highly recognized social virtues between French bourgeois families. Thus, Chardin's series of child education would have functioned as a demonstration of the ideal living standards of the bourgeois class and their emphasis on early childhood education in the French Enlightenment period.

• MISULJARYO - National Museum of Korea Art Journal
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• v.98
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• pp.130-153
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• 2020

Using stylistic analysis and historical documents, this paper examines the production details of images enshrined in Myeongbujeon (Hall of the Underworld) at Magoksa Temple in Gongju, focusing on the wooden seated Ksitigarbha Bodhisattva and the stone Ten Kings of Hell. Inside Myeongbujeon, the wooden seated Ksitigarbha Bodhisattva is placed at the center, flanked by standing images of Mudokgwiwang and Domyeong-jonja, with images of the Ten Kings and their attendants along the walls. All of these images were transferred to Magoksa Temple in the latter half of the 1930s. The wooden seated Ksitigarbha Bodhisattva came from Jeonghyesa Temple in Cheongyang, the other sculptures came from Sinheungsa Temple in Imsil, and a painting of the Ten Kings came from Jeongtosa Temple in Nonsan. The wooden seated Ksitigarbha Bodhisattva is known to have been produced in 1677, around the same time as the stone sculptures of the Ten Kings. A close analysis of the details of the bodhisattva sculpture-including the facial features, body proportions, and drapery characteristics-strongly suggests that it was produced in the 1620s or 1630s by the monk sculptor Suyeon (who was active in the early half of the seventeenth century) or his disciples. In particular, the rendering of the drapery on the lower half of the body closely resembles Buddhist sculptures produced by Suyeon that are now enshrined at Bongseosa Temple in Seocheon (produced in 1619) and at Sungnimsa Temple in Iksan (produced at Bocheonsa Temple in Okgu in 1634). According to the votive inscription, the stone sculptures of the Ten Kings and their attendants were produced in 1677 under the supervision of the monk sculptor Seongil. However, these are the only known Buddhist images produced under Seongil, and no details about other monks involved in the production have ever been found, making it difficult to speculate about their lineage. Historical records do suggest that Seongil worked on other projects to produce or repair sculptures with disciples of the monk sculptors Hyehi or Unhye, indicating amicable relations between the two groups. Unlike most such images in the Honam or Yeongseo regions, the Ten Kings at Magoksa Temple are made from stone, rather than wood or clay. Also, the overall form and the drapery conform to statues of the Ten Kings that were popularly produced in the Yeongnam region. Thus, the images are believed to be the work of monks who were primarily active in Yeongnam, rather than Honam. In the future, a systematic investigation of wooden seated Ksitigarbha Bodhisattva images and stone Ten Kings of Hell images produced in the Chungnam region could illuminate more details about the production of the images at Magoksa Temple, and perhaps shed light on the conditions that led to the production of stone Buddhist sculptures in the Honam area during the late seventeenth century.