• 대한유전성대사질환학회지
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• 제17권1호
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• pp.18-23
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• 2017

${\beta}$-ureidopropionase 결핍증(${\beta}$-UPD)은 UPB1 유전자 변이에 의한 피리미딘 대사 이상에 의해 생기는 매우 드문 상염색체 열성 유전 질환으로 현재까지 전 세계에서 30여명 정도만 보고되었다. ${\beta}$-UPD는 무증상인 경우부터 심한 발달 지연, 소두증, 발작, 인지 저하의 증상을 보이는 경우까지 다양하다. 국내에서 진단된 유일한 ${\beta}$-UPD 여자 환자는 8세 10개월에 targeted next-generation sequencing 검사로 UPB1 유전자 변이를 확인 한 후, Sanger sequencing을 통해 확진하였다. 환자는 성장 장애, 발단 지연, 소두증, 반복되는 감염 및 난치성 뇌전증 증상을 보였으며, 11세 5개월에 원인 미상으로 갑자기 사망하였다. 이에 저자들은 ${\beta}$-UPD 환자의 장기간의 임상경과에 대해 보고하는 바이다.

• Journal of Korean Neurosurgical Society
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• 제29권7호
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• pp.899-903
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• 2000

Objective : Object : A 7-year retrospective clinical and MRI study was reviewed to evaluate the characteristics of pineal cyst. We evaluated results of clinical and radiologic change of pineal cyst during follow up period. Patients and Methods : From 1992 to 1999, 50 patients with pineal cyst were visited for evaluation. Follow up clinical information was obtained from patients or clinical record through phone conversation. also radiologic findi-ngs of pineal cyst in mid-sagittal MRI were reviewed in detail. Results : Pineal cysts were usually asymptomatic and detected incidentally during evaluation of other diseases. Sagittal MRI is the most useful diagnostic test. The radiologic findings of pineal cyst were isointensity on T1WI comared to CSF and slightly high signal intensity on T2WI. Cyst wall was variably enhanced on Gad-enhanced T1WI. The average size of cyst was $13.9{\times}13.0mm$. The pineal cyst was classified into five groups according to previous report. Long term behavior of these lesions are not apparent, but in our study they showed no specific changes in clinical and radiological aspects during 25 months. Conclusion : Although long-term follow up results are needed, the pineal cyst are considered as normal variants. In our 25 months follow up results, there was no rapid change of cyst both clinically and radiologically. Therefore, frequent radiologic evaluation seems unnecessary except type III pineal cyst.

• 사상체질의학회지
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• 제23권3호
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• pp.318-329
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• 2011

1. Objectives: We surveyed the attitude and awareness of Sasang Constitution investigators on informed consent in clinical study. This study was performed in order to improve the quality of ethical aspects in clinical study by surveying the process of obtaining informed consent. 2. Methods: We sent the questionnaire by email to Sasang Constitution investigators who had the experience in clinical study. The question was about the necessity of informed consent and the process of obtaining it. 3. Results: Twenty-two out of 24 questionnaires were collected. All of investigators recognized that informed consent is needed for clinical study. Sixty-four percent of the respondents 'fully' or 'mostly' explained the informed consent but they added only 41% of participants 'fully' or 'mostly' understood. Fifty-four point five percent of respondents provided participants enough time and opportunity to inquire the study in details to decide whether or not to participate in the study, the rest of respondents obtained informed consent without providing enough time for decision. 4. Conclusions: Sasang Constitution investigators had high awareness of necessity for informed consent in clinical study. But participants' understanding was low despite of the degree of investigators' explanation. A various strategies should be designed for improving consent forms and process. Most of all, investigators should make sure that informed consent intends to protect participants and promote ethical research conduct.

• Clinical and Experimental Pediatrics
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• 제51권2호
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• pp.116-121
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• 2008

Unintentional injuries are the most important cause of morbidity and mortality in the pediatric population, and the home is the most common site of injury for children in Korea. The most common cause of injury was slip down. Fall down and burn were frequent in infant/toddlers group, automobile and bicycle accident more frequent in preschool children. Findings from the survey could then be used to provide targets for direct educational efforts by medical services and to direct environmental safety modifications tailored to the unique situation of each family. Pediatric toxic ingestions are treated commonly by pediatricians and emergency physicians. Significant injury after these ingestions is infrequent, but identifying the dangerous ingestion is sometimes a difficult task. By performing a detailed history, focused physical examination, and directed laboratory evaluation, an estimation of risk can be developed. According to recent Korean poison papers, there were bimodal peak of age distribution in poisoned children patient on the whole: infant and adolescents group. Various types of materials belonged the classes of drugs, household products, and industrial solvents. Most of the poisoned children patients had been poisoned accidentally, while most cases of adolescents poisoning had been intentional. More than half of the adolescents group had a suicidal purpose in Korea, so an understanding of the demographic factors associated with self-harm poisoning may provide useful information to improve prevention and treatment strategies.

• 한국임상약학회지
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• 제25권2호
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• pp.61-67
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• 2015

Pharmacy education and training is continuously evolving to meet the requirement from the society in the UK. Most pharmacy schools offer the Master of pharmacy degree which is a four year undergraduate programme followed by a year of pre-registration placement spanning a year supervised by a professional pharmacist who has at least 3 years' post-registration experience; however, some universities provide either a 5-year sandwich course where the pre-registration training is split up into two periods of 6 months or a 2-year OSPAP programme for those who are already qualified as a pharmacist outside of the UK. The GPhC has announced that the format of the registration assessment is set to change in 2016. The exam questions from 2016 will be more clinical, practical and based around a patient in a real-life scenario. This article addresses important aspects of UK pharmacy education such as university curriculum, training programme, and licence exam, therefore, could potentially offer a significant contribution to the debate about raising academic standards of pharmacy education in South Korea.

• Clinical and Experimental Pediatrics
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• 제54권2호
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• pp.55-63
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• 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

• Clinical and Experimental Reproductive Medicine
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• 제42권3호
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• pp.126-129
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• 2015

Essure (Bayer) received approval from the U.S. Food and Drugs Administration as a permanent non-hormonal contraceptive implant in November 2002. While the use of Essure in the management of hydrosalpinx prior to in vitro fertilization (IVF) remains off-label, it has been used specifically for this purpose since at least 2007. Although most published reports on Essure placement before IVF have been reassuring, clinical experience remains limited, and no randomized studies have demonstrated the safety or efficacy of Essure in this context. In fact, no published guidelines deal with patient selection or counseling regarding the Essure procedure specifically in the context of IVF. Although Essure is an irreversible birth control option, some patients request the surgical removal of the implants for various reasons. While these patients could eventually undergo hysterectomy, at present no standardized technique exists for simple Essure removal with conservation of the uterus. This article emphasizes new aspects of the Essure procedure, as we describe the first known association between the placement of Essure implants and the subsequent development of fluid within the uterine cavity, which resolved after the surgical removal of both devices.

• 대한치과의사협회지
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• 제25권5호통권216호
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• pp.465-477
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• 1987

This is an experimental and clinical study on the use of an autogenous frozen mandibular bone. Two aspects must be considered in the treatment of mandibular tumors: the eradication of the disease, and the maintenamce of the mandibular continuity for a good functional and esthetic results. The authors used the cryosurgical method in the dogs and the tumor of the mandible in human, which consists of partial mandibular resection; immersion of the bone in the liquid nitrogen at -196℃, followed by reimplantation of the mandibular bone in its bed. In experimental study, the mandibular segment showed favorable healing process without rejection during the cohole experimental periods. In clinical study, the frozen bone showed no antigenicity and excellent cosmetic results.

• BMB Reports
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• 제45권10호
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• pp.554-559
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• 2012

Oligosaccharide modification by N-acetylglucosaminyltransferase-V (GnT-V), a glycosyltransferase encoded by the Mgat5 gene that catalyzes the formation of ${\beta}1$,6GlcNAc (N-acetylglucosamine) branches on N-glycans, is thought to be associated with cancer growth and metastasis. Overexpression of GnT-V in cancer cells enhances the signaling of growth factors such as epidermal growth factor by increasing galectin-3 binding to polylactosamine structures on receptor N-glycans. In contrast, GnT-V deficient mice are born healthy and lack ${\beta}1$,6GlcNAc branches on N-glycans, but develop immunological disorders due to T-cell dysfunction at 12-20 months of age. We have developed Mgat5 transgenic (Tg) mice (GnT-V Tg mice) using a ${\beta}$-actin promoter and found characteristic phenotypes in skin, liver, and T cells in the mice. Although the GnT-V Tg mice do not develop spontaneous cancers in any organs, there are differences in the response to external stimuli between wild-type and GnT-V Tg mice. These changes are similar to those seen in cancer progression but are unexpected in some aspects. In this review, we summarize what is known about GnT-V functions in skin and liver cells as a means to understand the physiological roles of GnT-V in mice.

• 한방비만학회지
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• 제17권1호
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• pp.46-53
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• 2017

Health care big data is thought to be a promising field of interest for disease prediction, providing the basis of medical treatment and comparing effectiveness of different treatments. Korean government has begun an effort on releasing public health big data to improve the quality and safety of medical care and to provide information to health care professionals. By studying population based big data, interesting outcomes are expected in many aspects. To initiate research using health care big data, it is crucial to understand the characteristics of the data. In this review, we analyzed cases from inside and outside the country using clinical data registry. Based on successful cases, we suggest research method for evidence-based Korean medicine. This will provide better understanding about health care big data and necessity of Korean medicine data registry network.