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Mitochondrial DNA Sequence Variation of the Firefly , Pyrocoelia rufa ( Coleoptera : Lampyridae )
(Sang Chul Lee),(Ik Soo Kim),(Jin Sik Bae),(Byung Rae Jin),(Sam Eun Kim),(Jong Kil Kim),(Hyung Joo Yoon),(Sung Ryul Yang),(Soo Ho Lim),(Hung Dae Sohn) 한국잠사학회 2000 한국잠사학회 잠사과학 100주년 국제심포지엄 및 추계학술대회 Vol.- No.-
Lee Jin A,Lee Soon Min,Chung Sung-Hoon,Lee Jang Hoon,Shim Jae Won,Lim Jae Woo,Kim Chang-Ryul,Chang Yun Sil 대한의학회 2023 Journal of Korean medical science Vol.38 No.39
Background: In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and longterm mortality. We investigated the prevalence of 67 major congenital anomalies in Korea and compared the prevalence with that of the European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT). We also investigated the mortality and age at death, the proportion of preterm births, and the surgical rate for the 67 major congenital anomalies. Methods: Korean National Health Insurance claim data were obtained for neonates born in 2013–2014 and admitted within one-year-old. Sixty-seven major congenital anomalies were defined by medical diagnoses classified by International Classification of Diseases-10 codes according to the EUROCAT definition version 2014. Mortality and surgery were defined if any death or surgery claim code was confirmed until 2020. Poisson distribution was used to calculate the 95% confidence interval of the congenital anomaly prevalence. Results: The total prevalence of the 67 major anomalies was 433.5/10,000 livebirths. When compared with the prevalence of each major anomaly in EUROCAT, the prevalence of spina bifida, atrial septal defect (ASD), congenital megacolon, hip dislocation and/or dysplasia and skeletal dysplasia were more than five times higher in Korea. In contrast, the prevalence of aortic atresia/interrupted aortic arch and gastroschisis was less than one-fifth in Korea. The proportion of preterm births was 15.7%; however, more than 40% of infants with anencephaly, annular pancreas and gastroschisis were preterm infants. Additionally, 29.2% of the major anomalies were admitted to the neonatal intensive care units at birth, and 25.6% received surgical operation. The mortality rate was 1.7%, and 78.2% of the deaths occurred within the first year of life. However, in neonates with tricuspid valve atresia and stenosis, duodenal atresia or stenosis, and diaphragmatic hernia, more than half died within their first month of life. ASD and ventricular septal defect were the most common anomalies, and trisomy 18 and hypoplastic left heart syndrome were the most fatal anomalies. All infants with aortic atresia/interrupted aortic arch and conjoined twins received surgery. Conclusion: The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.
Sung-Hee Han,Young-Ho Yang,Jae-Song Ryu,Myung-Soo Kang,Young-Jin Kim,Kyoung-Ryul Lee 대한의학유전학회 2015 대한의학유전학회지 Vol.12 No.2
Purpose: Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing of fetal chromosomal aneuploidies. Here, we report the initial clinical performance of NIPT in Korean pregnant women. Materials and Methods: MPS-based NIPT was performed on 910 cases; 5 mL blood samples were collected and sequenced in the Shenzhen BGI Genomic Laboratory to identify aneuploidies. The risk of fetal aneuploidy was determined by L-score and t-score, and classified as high or low. The NIPT results were validated by karyotyping for the high-risk cases and neonatal follow-up for low-risk cases. Results: NIPT was mainly requested for two clinical indications: abnormal biochemical serum-screening result (54.3%) and advanced maternal age (31.4%). Among 494 cases with abnormal biochemical serum-screening results, NIPT detected only 9 (1.8%) high-risk cases. Sixteen cases (1.8%) of 910 had a high risk for aneuploidy: 8 for trisomy 21, 2 for trisomy 18, 1 for trisomy 13, and 5 for sex chromosome abnormalities. Amniocentesis was performed for 7 of these cases (43.8%). In the karyotyping and neonatal data, no false positive or negative results were observed in our study. Conclusion: MPS-based NIPT detects fetal chromosomal aneuploidies with high accuracy. Introduction of NIPT as into clinical settings could prevent about 98% of unnecessary invasive diagnostic procedures.
( Sang Hoo Lee ),( Soon Ho Kwon ),( Hye Jin Shin ),( Jimyeong park ),( Hwan Sub Lim ),( Kyoung Ryul Lee ),( Young Jin Kim ) 생화학분자생물학회 (구 한국생화학분자생물학회) 2010 BMB Reports Vol.43 No.11
Salivary testosterone levels in Korean adults were quantitatively measured for the first time by liquid chromatography-electrospray-tandem mass spectrometry (LC ESI MS/MS). Salivary testosterone was separated on a multiple reaction monitoring (MRM) chromatogram within 7 min. The LC ESI MS/MS assay was validated over the linearity range of 0.01-2.00 ng/ml (r=0.99987) using testosterone-d3 as an internal standard. The lower limit of quantification (LOQ) was 0.01 ng/ml. The intra-and inter-assay precisions were 1.54% to 4.09% and 0.96% to 4.29%, respectively. The mean recovery was 93.32% (range 88.43-98.05%). The validated assay was then applied to measure the salivary testosterone levels of Korean adults. In men, the salivary testosterone level collected between 9:00-11:00 am was approximately 2.8 times higher than that in women (P < 0.0001). Salivary testosterone levels in both sexes negatively correlated with age. The present assay would also be useful in measuring salivary testosterone levels in clinical laboratories. [BMB reports 2010; 43(11): 761-765]
( Sung-min Lim ),( Jin Hee Kim ),( Yeseul Kim ),( Seung Sam Paik ),( Jeong Eun Kim ),( Joo Yeon Ko ),( Jinsup Kim ),( Hyun-kyung Park ),( Chang-ryul Kim ),( Hyun Ju Lee ) 대한주산의학회 2020 Perinatology Vol.31 No.1
Epidermolysis bullosa simplex (EBS) is a group of inherited skin diseases characterized by intraepidermal blistering upon mild trauma. They are classified into three major types based on the severity and distribution of blisters, age of onset, and histological findings. These three major types are caused by KRT5 and KRT14 gene mutations. EBS Dowling-Meara (DM) is one of the most severe subtypes which mostly affects neonates. Electron microscopy is a primary diagnostic tool for EBS; however, mutation analysis has recently become more important for its diagnosis, prognosis, genetic counselling, and prenatal diagnosis. Several studies have reported that almost all mutations in EBS-DM patients are found in the highly conserved rod domains of the KRT5 and KRT14 genes and have also demonstrated a genotype-phenotype correlation. Here, we report an EBS-DM case diagnosed by mutation analysis in a newborn and a missense mutation not identified in humans previously.
Characterization and Immunological Analysis of Insecticyanin from the Hemolymph of Agrius convolvuli
Lee, Bo-Young,Lee, Chang-Seok,Lee, Sang-Dae,Yun, Chi-Young,Kim, Woo-Kap,Kim, Hak-Ryul The Korean Society for Integrative Biology 1999 Korean journal of biological sciences Vol.3 No.2
A blue biliprotein, insecticyanin (INS), has been purified from the last instar larval hemolymph of Agrius convolvuli by ultracentrifugation, Sephadex G-100 gel permeation chromatography, and preparative electrophoresis. The molecular mass of INS was estimated to be 26 kDa and the N-terminal sequence of INS revealed high similarity to that of Manduca sexta. Results of Western blotting and autoradiography indicated that INS is synthesized by the epidermis and released into the hemolymph. In contrast to the INS reported in other insects, Agrius convolvuli INS contained a small amount of lipid, predominately consisting of triacylglycerol. Subcellular localization of INS was determined using protein-A gold particles linked to secondary antibodies (anti-rabbit Ig). INS was heavily accumulated in the cytoplasmic inclusion body (CIB). CIBs showed a variety of shapes from rod to globule and generally surrounded the nucleus. They were mostly located near the basement membrane and especially abundant in the intersegmental membrane.