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A study on Perfume case (향(香) 집에 관한연구)

  • 이선재
    • Journal of the Korean Society of Costume
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    • v.33
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    • pp.117-142
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    • 1997
  • This study is on perfume case that is one of a great number of ornaments which was designed by out ancestors. We had developed the tradition and the history of perfume case bag fan-weight etc. These have the same function as the present perfume. case. There were basket-shaped perfume cases which were the smellest one among the personal girdle ornaments in the silla era. The various patterned perfume case were made of gold metal coral platinum or green jadeite etc. In the single-crop trinkets a embroidered perfume bag with the gold and silver thread whose forms perfectly match their functions appeared during the Yi Dynasty. There was also a perfume bag which was one of the daily necessities. A precious "jul perfume" was carried by noble women. A fan-weight perfume bag was attached to the fan to emphasize the intrinsic beauty of utility and function. It is necessary to know the function of prefume case. As perfume case is weared on the clothes it was given more decorative effects as well as the function of medicinal amulet with a sweet smell. Therefore it is very important for us to study perfume case that has various function as an ornament. So The purpose of this study is to investigate the practical and decorative side of perfume case with the general examines of perfume finding how to practice use through our life. The results were as follows; 1. The first use of perfume is perfume through smoke which is for ceremony of religion It removes human body odor by degrees and spreads a sweet odor. Also the materials for making perfume of early age is aromatic plants which will be used flour-made flowers stems. As the materials for making perfume use is increasing today we can invent alcohol perfume today 2. Our country the custom of perfume-used is wide. Among them men's perfume-used was very special phenomenon. For example men were wearing perfume bag in the Silla era. Because perfume represented wealth and noble in those days. They shew off social position personality through perfume-used. 3. One of early religion ceremony article there was the perfume. And perfume case was means for containing perfume. Gradually the perfume case was used widly as increasing needs of perfume in human life. 4. In the middle period of 'Koryo' Dynasty perfume cases had a close relationship with clothes but after Mongolian has been attacked 'Koryo' there were changes in wearing clothes therefore the position of perfume cases were transfered to coat string that was the origin of decoration style that they began. That is to say the perfume case has been influenced the position of perfume case shapes with changing of fashion. 5. The perfume case has been made manifest various function as an ornament. In the practical side First medical-perfume in perfume case has been played an important role in first-aid medicine in critical condition. Second it was amulet for self protection. That is the shape pattern color materials perfume of the perfume case was represented the amuletive nature. Third it was used as substitute article of perfume. Modern women use liquid-perfume as our ancestors used perfume case bag or jul perfume As started above. Also In the decorative side the perfume case has a beautiful formative arts by itself as well as a close relationship with clothes. That well as a close relationship with clothes. That is when the perfume case is worn on the clothes costume is showed aesthetices. That is the materials shapes color pattern of the perfume case we can see the visual beauty also the materials colors embroidered pattern knots tassel that are used the perfume case are increased the decorative beauty of costume. Sixth the symbol in pattern of the pattern case is shown ancetor's wealth and rank health longevity immortality many-born-boy in those days. Today the perfume case is not used with changing of costume by degrees, Accordingly I hope that the result of this study is an influened in devlopment of the perfume case design with matching the modern fashion.

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Questions and Answers about the Humidifier Disinfectant Disaster as of February 2017 (가습기살균제 참사의 진행과 교훈(Q&A))

  • Choi, Yeyong
    • Journal of Environmental Health Sciences
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    • v.43 no.1
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    • pp.1-22
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    • 2017
  • 'The worstest environment disaster', 'World's first biocide massacre', 'Home-based Sewol ferry disaster' are all phrases attached to the recent humidifier disinfectant disaster. In the spring of 2011, four of 8 pregnant women including 1 adult man passed away at a university hospital in Seoul due to breathing failure. Epidemiologic investigation conducted by the Korean CDC soon revealed the inhalation of humidifier disinfectant, which had been widely used in Korea during the winter, to be responsible for the disease. As well as lung fibrosis hardening of the lungs, other diseases including asthma, rhinitis, skin disease, liver disease, fetal disease or cancers have been researched for their relation with exposure to the products. By February 9, 2017, 5,342 cases had registered for health problems and 1,131 of them were already dead (20.8% mortality rate). Based on studies by government agencies and a telephone survey of the general population by Seoul National University and civic groups, around 20% of the general public of Korea has used these products. Since the market release of the first product by SK Chemical in 1994, over 7.1 million items from around 20 brands were sold up to 2011. Most of the products were manufactured by well-known large conglomerates such as SK, Lotte, Samsung, Shinsegye, LG, and GS, as well as some European companies including UK-based Reckitt Benckiser and TESCO, the German firm Henkel, the Danish firm KeTox, and an Irish company. Even though this disaster was unveiled in 2011 by the Korean government, the issue of the victims was neglected for over five years. In 2016, an unexpected but intensive investigation by prosecutors found that Reckitt Benckiser manipulated and concealed animal tests for its own brand and brought several university experts and company employees to court. The matter was an intense social issue in Korea from May to June with a surge in media coverage. The prosecutor's investigation and a nationwide boycott campaign organized by victims and environmental groups against Reckitt Benckiser, whose product had been used by more than 70% of victims, led to the producer's official apology and a compensation scheme. A legislative investigation organized after the April 2016 national election revealed the producers' faults and the government's responsibility, but failed to meet expectations. A special law for the victims passed the National Assembly in January 2017 and a punitive system together with a massive environmental epidemiology investigation are expected to be the only solutions for this tragedy. Sciences of medicine, toxicology and environmental health have provided decisive evidence so far, but for the remaining problems the perspectives of social sciences such as sociology and jurisprudence are highly necessary, similar to with the Minamata disease and Wonjin Rayon events. It may not be easy to follow this issue using unfamiliar terminology from medical and chemical science and the long, complicated history of the event. For these reasons the author has attempted to write this article in a question and answer format to render it easier to follow. The 17 questions are: Q1 What is humidifier disinfectant? Q2 What kind of health problems are caused by humidifier disinfectant? Q3 How many victims are there? Q4 What is the analysis of the 1,112 cases of death? Q5 What is the problem with the government's diagnostic criteria and the solution? Q6 Who made what brands? Q7 Has there been a recall? What is still on sale? Q8 Was safety not checked by any producers? Q9 What are the government's responsibilities? Q10 Is it true that these products were sold only in Korea? Q11 Why and how was it unveiled only in 2011 after 17 years of sales? Q12 What delayed the resolution of the victim issue? Q13 What is the background of the prosecutor's investigation in early 2016? Q14 Is it possible to report new victim cases without evidence of product purchase? Q15 What is happening with the victim issue? Q16 How does it compare with the cases of Minamata disease and Wonjin Rayon? Q17 Are there prevention measures and lessons?

Anti-Inflammatory and Moisturizing Effect of Centella Extracts Fermented in Jeju Lava Water (제주용암해수로 숙성된 병풀 추출물의 항염 및 보습 효과)

  • Lee, Jeesun;Myung, Cheol Hwan;Lee, Ji Eun;Jo, Mi-Rae;Kim, Hong-Suk;Lee, Na-Young;Woo, Heedong;You, Jaeeun;Jo, Hae;Hwang, Jae Sung
    • Journal of the Society of Cosmetic Scientists of Korea
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    • v.45 no.4
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    • pp.363-372
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    • 2019
  • The leaves and stems of Centella asiatica have a long history of their usage as a medicine for the treatment of skin diseases such as ulcers and psoriasis, especially in Asia. Triterpenoids, the active components of Centella asiatica including asiaticoside, madecasosside, asiatic acid and madecassic acid, have shown to inhibit skin inflammation as well as improve skin photoaging. The main objective of this study is to investigate whether the Centella asiatica ripened with lava seawater which is rich in minerals known to be beneficial to human body can provide anti-inflammatory and moisturizing effects to skin. HPLC analysis showed that the concentration of triterpenoids increased further after ripening Centella asiatica with lava seawater. In order to confirm the inflammatory efficacy of the extract of the extract of the ripened Centella asiatica, the production of NO in LPS-activated RAW 264.7 cells and the expression of inflammatory cytokines in PM10 or UVB-induced HaCaT cells were observed. We found that the extract of the ripened Centella asiatica inhibited the expression of NO, IL-6, IL-8, and TNF-a and had higher inhibitory effect compared to the extract of the non-ripened Centella asiatica. In order to confirm the skin moisturizing effect, we investigated the synthesis of HA in HaCaT cells. The result showed HA production was enhanced in a concentration-dependent manner from the ripened group, while there was no efficacy from the non-ripened group. Taken together, it is concluded that the extract of the Centella asiatica ripened with lava seawater was effective in anti-inflammation and moisturization.

Characteristics and Significance of the Huirang Daesa Sculpture at Haeinsa Temple in Hapcheon (합천(陜川) 해인사(海印寺) 희랑대사상(希朗大師像)의 특징과 제작 의미)

  • Jeong, Eunwoo
    • MISULJARYO - National Museum of Korea Art Journal
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    • v.98
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    • pp.54-77
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    • 2020
  • Produced during the Goryeo period (718-1392), the statue of the monk Huirang Daesa at Haeinsa Temple in Hapcheon is almost life-size, with a height of 82.4 cm, a width of 66.6 cm at the knees, and a maximum width of 44 cm at the torso (front and back). Notably, it is the only known example of an East Asian Buddhist sculpture made from wood and dry lacquer that was formed by joining the front and back halves. However, a similar technique was used on a dry lacquer statue of the Medicine Buddha at Cheongnyangsa Temple in Bonghwa, which is estimated to date from the late Goryeo or early Joseon period. As such, this technique is thought to represent this particular time period. In an eighteenth-century travelogue about a trip to Mt. Gayasan, the author describes a sculpture that is believed to be the statue of Huirang Daesa at Haeinsa Temple, based on various unique features that closely correspond to the sculpture's current appearance. For example, the sculpture is said to have a hole in the chest and rough, knobby tendons and bones, two features that can still be seen today. Another sculpture of a Buddhist monk who was active in the western regions during the third and fourth century also has a hole in the chest, which is said to be a symbol of spiritual strength. The travelogue also states that the statue was lacquered black at the time, which means that it must have been painted with its present colors some time in the nineteenth century. Over time, the sculpture has been enshrined in various halls of Haeinsa Temple, including Haehaengdang, Jinsangjeon, and later Josajeon (Hall of the Patriarchs), and Bojangjeon. Records show that images of Buddhist monks, or "seungsang," were produced in Korea as early as the Three Kingdoms period (18 BCE-660 CE), but few of these works have survived. At present, only four such sculptures are extant, including the images of Huirang Daesa from the Goryeo period, and those of Monk Naong and Uisang Daesa from the Joseon period. Of these, the sculpture of Huirang Daesa has special significance for its early production date (i.e., CE. tenth century), outstanding production techniques, and superb artistic quality, realistically capturing both the external appearance and internal character of the subject. The tradition of producing, sanctifying, and worshipping statues of monks was prevalent not only in Korea, but also in China and Japan. However, each country developed its own preferred materials and techniques for producing these unique images. For example, while China has a large number of mummified Buddhist images (yuksinbul), Japan produced diverse images with various materials (e.g., dry lacquer, wood, clay) according to period. But despite the differences in materials and techniques, the three nations shared the same fundamental purpose of expressing and honoring the inherent spirituality of the monks.

The Outcome of Conventional External Beam Radiotherapy for Patients with Squamous Cell Carcinoma of the Esophagus (식도의 편평상피세포암 환자에서 외부방사선치료의 결과)

  • Jang, Ji-Young
    • Radiation Oncology Journal
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    • v.26 no.1
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    • pp.17-23
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    • 2008
  • Purpose: The best treatment for advanced esophageal cancer is chemoradiotherapy followed by surgery. In spite of the advance of multimodality therapy, most patients with esophageal cancer are treated with radiation therapy alone. This study reports the outcome of the use of conventional external beam radiotherapy alone for the treatment of esophageal cancer. Materials and Methods: Between January 1998 and December 2005, 30 patients with squamous cell carcinoma of the esophagus were treated with external beam radiotherapy using a total dose exceeding 40 Gy. Radiotherapy was delivered with a total dose of 44-60 Gy(median dose, 57.2 Gy) over $36{\sim}115$ days(median time, 45 days). Thirteen patients(43.3%) had a history of disorders such as diabetes, hypertension, tuberculosis, lye stricture, asthma, cerebral infarct, and cancers. Four patients metachronously had double primary cancers. The most common location of a tumor was the mid-thoracic portion of the esophagus(56.7%). Tumor lengths ranged from 2 cm to 11 cm, with a median length of 6 cm. For AJCC staging, stage III was the most common (63.3%). Five patients had metastases at diagnosis. Results: The median overall survival was 8.3 months. The survival rates at 1-year and 2-years were 33.3% and 18.7%, respectively. The complete response rate $1{\sim}3$ months after radiotherapy was 20%(6/30) and the partial response rate was 70%(21/30). Sixteen patients(53.3%) had an improved symptom of dysphagia. Significant prognostic factors were age, tumor length, stage, degree of dysphagia at the time of diagnosis and tumor response. Cox regression analysis revealed the aim of treatment, clinical tumor response and tumor length as independent prognostic factors for overall survival. Twenty-eight patients had local failure and another four patients had metastases. Three patients were detected with double primary cancers in this analysis. A complication of esophageal stricture was observed in three patients(10%), and radiation pneumonitis occurred in two patients(6.7%). Conclusion: The prognosis of esophageal cancer remains poor, in spite of advances in radiotherapy techniques. Radiotherapy is one of the main treatment modalities for the relief of dysphagia and treatment related complications are minimal. It is expected that the addition of chemotherapy or another systemic modality to radiotherapy will improve tumor control and increase the survival rate in advanced esophageal cancer.

Wearable Computers

  • Cho, Gil-Soo;Barfield, Woodrow;Baird, Kevin
    • Fiber Technology and Industry
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    • v.2 no.4
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    • pp.490-508
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    • 1998
  • One of the latest fields of research in the area of output devices is tactual display devices [13,31]. These tactual or haptic devices allow the user to receive haptic feedback output from a variety of sources. This allows the user to actually feel virtual objects and manipulate them by touch. This is an emerging technology and will be instrumental in enhancing the realism of wearable augmented environments for certain applications. Tactual displays have previously been used for scientific visualization in virtual environments by chemists and engineers to improve perception and understanding of force fields and of world models populated with the impenetrable. In addition to tactual displays, the use of wearable audio displays that allow sound to be spatialized are being developed. With wearable computers, designers will soon be able to pair spatialized sound to virtual representations of objects when appropriate to make the wearable computer experience even more realistic to the user. Furthermore, as the number and complexity of wearable computing applications continues to grow, there will be increasing needs for systems that are faster, lighter, and have higher resolution displays. Better networking technology will also need to be developed to allow all users of wearable computers to have high bandwidth connections for real time information gathering and collaboration. In addition to the technology advances that make users need to wear computers in everyday life, there is also the desire to have users want to wear their computers. In order to do this, wearable computing needs to be unobtrusive and socially acceptable. By making wearables smaller and lighter, or actually embedding them in clothing, users can conceal them easily and wear them comfortably. The military is currently working on the development of the Personal Information Carrier (PIC) or digital dog tag. The PIC is a small electronic storage device containing medical information about the wearer. While old military dog tags contained only 5 lines of information, the digital tags may contain volumes of multi-media information including medical history, X-rays, and cardiograms. Using hand held devices in the field, medics would be able to call this information up in real time for better treatment. A fully functional transmittable device is still years off, but this technology once developed in the military, could be adapted tp civilian users and provide ant information, medical or otherwise, in a portable, not obstructive, and fashionable way. Another future device that could increase safety and well being of its users is the nose on-a-chip developed by the Oak Ridge National Lab in Tennessee. This tiny digital silicon chip about the size of a dime, is capable of 'smelling' natural gas leaks in stoves, heaters, and other appliances. It can also detect dangerous levels of carbon monoxide. This device can also be configured to notify the fire department when a leak is detected. This nose chip should be commercially available within 2 years, and is inexpensive, requires low power, and is very sensitive. Along with gas detection capabilities, this device may someday also be configured to detect smoke and other harmful gases. By embedding this chip into workers uniforms, name tags, etc., this could be a lifesaving computational accessory. In addition to the future safety technology soon to be available as accessories are devices that are for entertainment and security. The LCI computer group is developing a Smartpen, that electronically verifies a user's signature. With the increase in credit card use and the rise in forgeries, is the need for commercial industries to constantly verify signatures. This Smartpen writes like a normal pen but uses sensors to detect the motion of the pen as the user signs their name to authenticate the signature. This computational accessory should be available in 1999, and would bring increased peace of mind to consumers and vendors alike. In the entertainment domain, Panasonic is creating the first portable hand-held DVD player. This device weight less than 3 pounds and has a screen about 6' across. The color LCD has the same 16:9 aspect ratio of a cinema screen and supports a high resolution of 280,000 pixels and stereo sound. The player can play standard DVD movies and has a hour battery life for mobile use. To summarize, in this paper we presented concepts related to the design and use of wearable computers with extensions to smart spaces. For some time, researchers in telerobotics have used computer graphics to enhance remote scenes. Recent advances in augmented reality displays make it possible to enhance the user's local environment with 'information'. As shown in this paper, there are many application areas for this technology such as medicine, manufacturing, training, and recreation. Wearable computers allow a much closer association of information with the user. By embedding sensors in the wearable to allow it to see what the user sees, hear what the user hears, sense the user's physical state, and analyze what the user is typing, an intelligent agent may be able to analyze what the user is doing and try to predict the resources he will need next or in the near future. Using this information, the agent may download files, reserve communications bandwidth, post reminders, or automatically send updates to colleagues to help facilitate the user's daily interactions. This intelligent wearable computer would be able to act as a personal assistant, who is always around, knows the user's personal preferences and tastes, and tries to streamline interactions with the rest of the world.

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PSYCHIATRIC CHARACTERISTICS OF CHILD PATIENTS WITH INVERSION OF CHROMOSOME 9 - A PRELIMINARY STUDY - (9번 염색체 전위를 지닌 환아들의 정신과적 특성 - 예비적 연구 -)

  • Lee, Jun-Young;Hwang, Jun-Won;Hong, Kang-E;Kim, Jae-Won
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.12 no.1
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    • pp.71-78
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    • 2001
  • Objectives:Few studies have examined the psychiatric properties or child developmental problems associated with inversion of chromosome 9. The purpose of this study is to examine the psychiatric properties of child patients who have inversion of chromosome 9, focused on behavioral problems and child developmental problems like motor or language developmental delay, intellectual impairment, and growth retardation. Methods:1) The authors examined the cases referred for cytogenetic examination from 1984 to 2000 at Seoul National University Hospital in Korea. The cases with the examination result of inversion of chromosome 9 were collected and informations about the departments which referred and the main reasons for referral were also checked. 2) 12 child subjects with inversion of chromosome 9 and their parents underwent psychiatric interview and parent questionnaire(child and adolescent past history questionnare, CBCL). 45 normal students whose sex and age were matched to patients were selected as a control group. Results:1) There were 165 cases of inversion of chromosome 9. The major departments which referred were Obstetrics and Gynecology(47.3%), Pediatrics(23.6%) and Child and Adolescent Psychiatry(17.0%). The major reasons for referral from the Pediatrics and the Child and Adolescent Psychiatry department (67 cases total) were intellectual impairment(35.8%), language or motor developmental delay(31.3%), suspected Fragile X syndrome(23.9%), and growth retardation(20.9%). 2) Compared to normal control group, the rate to be included in the clinical range with regard to the social problems profile was higher in patient group according to the CBCL results. The patient group had language and motor developmental delay. Conclusion:There is a possibility of inversion of chromosome 9 to be associated with child developmental problems or behavioral problems. This study is the first approach to evaluate the developmental aspects associated with inversion of chromosome 9.

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CLINICAL CHARACTERISTICS AND TREATMENT COURSES OF THE CHILDREN WITH SELECTIVE MUTISM (선택적 함구증 아동의 임상특성 및 치료경과)

  • Chung, Sun-Ju;Hong, Kang-E
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.6 no.1
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    • pp.74-89
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    • 1995
  • Selective mutism is a childhood condition defined by persisten failure to speak in specific social situation when speaking is expected, dispite preserved ability to comprehend spoken language and speak. Present study is to investigate clinical characteristics, treatment method and outcome of 23 children who were diagnosed as selective mutism by DSM-IV criteria at the child psychiatry ouptatient department of SNUH. The results were as follows : 1) The Sex ratio was 1: 4.8, female dominant Mear age of onset was 33 years old and mean age of first referral was 7.7 years old. 2) 22% of subjects had perinatal problem such as low birth weight, preterm birth, 26% of the subjects have history of delayed language development. There are subjects who had been separated with mam caretaker before 3 years old(26%) and who experienced physical or psychological trauma before 3 years old(26%). A few subjects had enurests(30%) and encoprests(4%). 3) Many subjects(65%) had symbiotic relationship with their mother. These families consist of dominant, verbally aggressive mother and passive father. Parents of 39% of all subjects were judged to have definite psychopathology(social phobic, depression, hysterical trait or alcohol problem) 26% of all subject, were reported physically abused. 4) The personality trait of the subjects were frequently described as follows(in order of frequency) ; Shy(100%), anxious(83%), stubborn(83%)m rigid and tense posture(78%), immature(65%) overdependent(65%), irritable(52%), manipulative(39%), depressive(39%). 5) The mean performance IQ of 16 subjects by KEDI-WISC was 88.3 Among them, the subjects with IQ below 69 were seven and those with IQ above 70 were nine. When comparing these two group(Mental retardation group vs Normal IQ group), we could find some difference in language development, personality trait, family dynamics and treatment outcome. 6) Among several treatment methods for selective mutism, play therapy was the most frequently used method(65%). Other commonly used treatment methods were pharmacotherapy(21%), behavioral therapy(8%), combined therapy(play therapy+pharmacotherapy+family therapy+behavioral therapy)(12%), 7) Regarding the outcome of treatment 8.6% was evaluated as Excellent, 30.4% as Good, 52% as Fair, 8.7% as Poor at the tinic of treatment. At follow up interview 21.7% was evaluated Excellent, 13% as Good, 21.7% as Fair, 34.8% as Poor. 8) We classified all subjects by Havden's 4 subtype. Symbiotic mutism was most common(65%) and other subtypes are Speech phobic mutism(8.6), Reactive mutism(13%) and Passive-aggressive mutism(30%).

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Perinatal outcomes according To chorionicity in Twin Gestations (쌍생아 임신의 융모막과 주산기 결과)

  • Choi, Eun-Jin;Yun, Hyun-Jin;Hyh, Jae-Won;Hong, Yong-Hong
    • Neonatal Medicine
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    • v.15 no.1
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    • pp.67-74
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    • 2008
  • Purpose : The purpose of this study was to assess the natural history and perinatal outcomes of twin gestations according to chorionicity. Methods : We retrospectively reviewed the medical records of 99 monochorionic (MC) and 206 dichorionic (DC) twin gestations delivered at Il Sin Christian Hospital in Busan between January 2002 and December 2007. The incidences of twin-to-twin transfusion syndrome (TTS) and selective intrauterine growth restriction (sIUGR), as well as perinatal morbidity and mortality, were evaluated. Results : MC twins had a lower gestational age (35.7 vs. 36.6 weeks, P=0.03) at birth and a higher incidence of intrauterine fetal loss (10% vs. 1.5%, P<0.001) than DC twins. The incidence of intrauterine fetal loss was higher in MC sIUGR than in DC sIUGR (19% vs. 2.5%, P=0.025) twins. The number of admissions to the neonatal intensive care unit (NICU; 31% vs. 16%, P=0.042), and the incidence of periventricular leukomalacia (7% vs. 0%, P=0.031), and respiratory distress syndrome with surfactant treatment (27% vs. 11%, P=0.049) were higher in MC than DC twins. The incidences of sIUGR and TTS were 21 and 9% among the MC twins. The incidences of intrauterine fetal loss were higher in MC twins with TTS [6 of 9 (67%)] or sIUGR [4 of 21 (19%)] than uncomplicated MC twins (P<0.001). The frequency of admission to the NICU (P=0.001), the length of hospital stay (P=0.033), the prevalence of periventricular leukomalacia (P=0.011), and intraventricular hemorrhage (P=0.007) were also higher in MC with TTS or sIUGR than in uncomplicated MC twins. Conclusion : The incidence of neonatal complications was higher in MC twins, especially those gestations complicated by TTS or sIUGR.

A Case of Late-onset Episodic Myopathic Form with Intermittent Rhabdomyolysis of Very-long-chain acyl-coenzyme A Dehydrogenase (VLCAD) Deficiency Diagnosed by Multigene Panel Sequencing (유전자패널 시퀀싱으로 진단된 성인형 very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) 결핍증 증례)

  • Sohn, Young Bae;Ahn, Sunhyun;Jang, Ja-Hyun;Lee, Sae-Mi
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.19 no.1
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    • pp.20-25
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    • 2019
  • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

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