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정신지체 및 발달지연으로 수용된 인구의 임상, 내분비 및 대사 질환 평가
김숙자,전영미,송웅주,김학성,조화연,길홍량,김승환,Kim, Sook-Za,Jeon, Young-Mi,Song, Woong-Ju,Kim, Hak-Sung,Cho, Hwa-Yeon,Kil, Hong-Ryang,Kim, Seung-Hwan 대한유전성대사질환학회 2012 대한유전성대사질환학회지 Vol.12 No.2
Purpose: Developmental delay and mental retardation are frequently occurring disorders that present major socio-economic burden on the affected individual's family and society. Both can be congenital or acquired. However, a large number of people are institutionalized without exact diagnosis and, as a result, have not received proper care. Methods: 508 subjects with mental retardation or developmental delay from six institutions in Chung Buk Province were clinically evaluated and screened for metabolic and endocrinologic problems between 2000 and 2012. Results: Clinical genetic disorders were observed in 52 (10.2%) subjects. Cerebral palsy attributed to 21% of the institutionalized. 18 (3.5%) were diagnosed with metabolic disorders and 13 (2.6%) exhibited secondary endocrinologic dysfunction. Over 16% showed metabolic evidence of malnutrition. Conclusion: 21% and 3.5% of the population institutionalized due to mental retardation or developmental delay were afflicted by preventable cerebral palsy and metabolic disorders, respectively. Through early identification of the causes and early treatment, it may be possible to prevent, reduce, or alleviate the disability of many institutionalized individuals. Further research is imperative for establishing guidelines for diagnostic investigation for mental retardation.
김숙자,이진현,지규인,이장규,김욱,Kim, Suk-Ja,Lee, Jin-Hyun,Jee, Gyu-In,Lee, Jang-Gyu,Kim, Wuk 제어로봇시스템학회 2004 제어·로봇·시스템학회 논문지 Vol.10 No.8
Outdoors we can easily acquire our accurate location by GPS. However, the GPS signal can't be acquired indoors because of its weak signal power level. Adequate positioning method is demanded for many indoor positioning applications. At present, wireless local area network (WLAN) is widely installed in various areas such as airport, campus, and park. This paper proposes a positioning algorithm using WLAN signal strength to provide the position of the WLAN user indoors. There are two methods for WLAN based positioning, the signal propagation method uses signal strength model over space and the empirical method uses RF power propagation database. The proposed method uses the probability distribution of the power propagation and the maximum likelihood estimation (MLE) algorithm based on power strength DB. Test results show that the proposed method can provide reasonably accurate position information.
타이로신 혈증 2례; 간암이 유발된 1례와 급성 간부전으로부터 회복된 1례의 비교
김숙자,송웅주,전영미,Kim, Sook Za,Song, Woong Ju,Jeon, Young Mi,Levy, Harvey L. 대한유전성대사질환학회 2013 대한유전성대사질환학회지 Vol.13 No.1
Tyrosinemia I (fumarylacetoacetate hydrolase deficiency) is an autosomal recessive inborn error of tyrosine metabolism that produces liver failure in infancy or a more chronic course of liver disease with cirrhosis, often complicated by hepatocellular carcinoma in childhood or early adolescence. We studied a 37-year-old woman with tyrosinemia I whose severe liver disease in infancy and rickets during childhood were resolved with dietary therapy. From 14 years of age, she resumed unrestricted diet with the continued presence of the biochemical features of tyrosinemia, yet maintained normal liver function. In adult years, she accumulated only a small amount of succinylacetone. Despite this evolution to a mild biochemical and clinical phenotype, she eventually developed hepatocellular carcinoma. Her fumarylacetoacetate hydrolase genotype consists of a splice mutation, IVS6-1G>T, and a novel missense mutation, p.Q279R. Studies of resected liver revealed the absence of hydrolytic activity and immunological expression of fumarylacetoacetate hydrolase in tumour. In the non-tumoral areas, however, 53% of normal hydrolytic activity and immunologically present fumarylacetoacetate hydrolase were found. This case demonstrates the high risk of liver cancer in tyrosinemia I even in a seemingly favorable biological environment. In this study of tyrosinemia I, Case 2 with negative succinylacetone accumulation and the recovery of acute liver failure was compared with Case 1. Diet restriction and NTBC treatment are crucial to prevent hepatocellular carcinoma until liver transplant can take place and cure the condition. Further studies are needed to examine cases where liver cancer did not result despite clinical symptoms/signs of tyrosinemia type I.
김숙자,송웅주,이선호,Sook Za Kim,Wung Joo Song,Sun Ho Lee,Harvey L. Levy 대한유전성대사질환학회 2023 대한유전성대사질환학회지 Vol.23 No.2
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficiency in branched chain α-keto acid dehydrogenase (BCKAD). Between 1997, when Korea's MSUD case was first reported, and 2023, 14 cases were reported in the literature. 29% of the cases experienced developmental delay, and 29% expired. The prevalence of MSUD in Korea was estimated to be 1 in 230,000. Of 21 MSUD patients currently being treated at the Korea Genetics Research Center, 19 were detected through newborn screening program, and 2 were diagnosed by the symptoms. 14 MSUD patients had confirmed genetic mutations; 6 (43%) were BCKDHA and 8 (57%) were BCKDHB. In one case, a large deletion was observed. 4 patients had leucine levels above 2,000 (umo/L), and post-dialysis diet therapy was initiated in the newborn period. No patient required further dialysis as diet therapy and regular monitoring proved highly effective. Most MSUD patients were growing normally; weight and height growth were above the 50th percentile in 76% of the cases while BMI values were higher than normal in 71% of cases. Developmental delays were observed only in 2 cases (10%) and anticonvulsant use in 3 cases (14%). With newborn screening available to all Korean infants, early diagnosis and intervention should allow most patients to remain asymptomatic. However, ongoing surveillance, dietary management and continued patient compliance as well as rapid correction of acute metabolic decompensations remain critical to a favorable long-term prognosis.
프로피온산 혈증 환아에서 경험한 의원성 헤모크로마토시스 I례
김숙자,송웅주,전영미,Kim, Sook Za,Jeon, Young Mi,Song, Woong Ju 대한유전성대사질환학회 2013 대한유전성대사질환학회지 Vol.13 No.1
Propionic acidemia is an inherited organic acid metabolic disorder. During chronic recurrent metabolic crisis, multiple blood transfusions can cause secondary hemochromatosis. We report a patient with propionic acidemia who had iron overload that resulted in liver dysfunction, cardiomyopathy and diabetes. When multiple blood transfusions are unavoidable, use of chelating agents for iron can prevent complications such as diabetes and hemochromatosis.