Gilles de la Tourette氏 病의 1例

石在鎬,尹昌範,李根厚,高炳鶴,權吉祐 大韓神經精神醫學會 1971 신경정신의학 Vol.10 No.1

The authors report A Case of Gilles de la Tourette's Syndrome seen in 20 years old man. The manifesting syndromes were controlled with Neuroleptics(Perphenazine, Chlorpromazine), Meprobamate and regular psychiatric interview on the basis of hospitalized. The several literiture are reviewed and clinical aspects of this syndrome are discussed.

골형성부전증 10예의 임상적 특징

이형숙,김현주,조재현,이승원,김현아,최준혁,송영준,김대중,이관우,정윤석 대한내분비학회 2003 Endocrinology and metabolism Vol.18 No.5

연구배경 및 방법: 골형성부전증은 비교적 희귀한 유전병으로 교원질 대사 장애로 인한 골의 취약성과 다발성 골절 및 척추측만증 등을 특징으로 한다. 유전방식과 표현형의 발현 정도에 따라 다양한 임상 양상을 보이며, 임상적 중증도에 따라 4가지 형태로 분류된다. 지금까지 국내 보고는 분만과정이나 태아 진찰시 골격이상으로 발견된 증례보고가 주였다. 저자들은 비교적 경미한 임상 양상을 보이는 예를 포함한 다수의 골형성부전증 환자들의 전반적인 임상적 특징에 대해 보고하는 바이다. 결과: 2001년 6월부터 2003년 2월까지 골형성부전증으로 진단받은 6 가계, 10예를 대상으로 하였다. 평균 나이는 27.3(5∼56)세였고 소아가 2예였다. 모두 상염색체 우성으로 유전되었으며, 제 I형이 4예, 제 III형이 4예, 그리고 제 IV형이 2예였다. 전 예에서 다수의 골절 경험이 있었고, 골밀도 저하와 골피질 두께 감소 소견이 관찰되었다. 전신의 평균 골밀도는 0.690(0.421∼1.039) g/cm²였다. 골형성지표로 측정된 sAlk는 소아의 경우만 증가되어 있었고, 골흡수지표로 측정된 uDPD의 평균치는 12.9(4.4∼36.3) nM/mM Cr으로 증가된 소견을 보였다. mobility score는 대부분 3,4단계에 속해 있었다. 중증형일수록 진단 시의 mobility score가 낮은 경향을 보였다. 결론: 한국인 골형성부전증 환자의 임상적 특징을 살펴본 결과 기존의 보고된 II형 외에도 I, III, IV형이 다양하게 존재함을 알 수 있었으며, 모든 예에서 상염색체 우성으로 유전됨을 확인할 수 있었다. 또한 모든 예에서 증가된 골흡수로 인한 골밀도 저하와 골절을 확인할 수 있었다. Osteogenesis Imperfecta (OI) is a relatively rare hereditary disease, which is characterized by multiple bone fractures and spine scoliosis, due to the fragility of bone, and is often associated with blue sclerae, deafness and dentinogenesis imperfecta. Four types of OI can be distinguished, according to the clinical findings. Although mutations affecting type I collagen are responsible for the disease in most patients, the mechanism by which the genetic defects cause abnormal bone development remains to be fully understood. Here, the clinical characteristics of 10 OI patient cases are reported, with a review of the literature. All the cases, including 4 type I, 4 type III and 2 type IV, inherited OI as an autosomal dominant trait. All the subjects had multiple old fractures and decreased bone densities. In this study, the biochemical marker of bone formation, serum alkaline phosphatase, was found to be increased only in the pediatric OI patients, while the biochemical marker of bone resorption, urinary deoxypyridinoline, was increased in all cases. The mobility score was found to correlate with the severity of the type on diagnosis (J Kor Soc Endocrinol 18:496∼503, 2003).

라미부딘과 HBIg 1주일 단기 병합요법은 간이식 후 B형 간염 재발 방지에 HBIg 장기 고용량 투여요법만큼 효과적인가?

김성주,장재권,이석구,도재혁,백승운,최문석,조재원,고광철,이풍렬,이종철,최규완,박상종,이준혁,김재준,임윤정,안병훈 대한소화기학회 2001 대한소화기학회지 Vol.37 No.1

Background/Aims : The aim of this study was to evaluate whether the regimen consisted of lamivudine and one-week HBIg for HBV prophylaxis after liver transplantation is as effective as long-term therapy of high dose HBIg. Methods: Sixty-one patients with HBV infection were randomly divided into two groups: HBIg group of 31 patients and combination group of 30 patients. In the HBIg group, HBIg was given according to the standard dosing schedule. In the combination group, lamivudine was given indefinitely from at least 4 weeks before transplantation, and 10,000 IU of HBIg was given during anhepatic phase and 6 consecutive days. Results: The two groups were not different in HBeAg and HBV DNA positivity. In the HBIg group, the median follow-up of 20 long-term survivors was 12.7 months (range: 4.0 - 48.2) and that of 23 survivors in the combination group was 22.3 months (4.2 - 42.2). Hepatitis B recurred in a patient of the HBIg group and 2 of the combination group. The recurrence-free survival rate of long-term survivors was 66.7% (95% C.I., 39.5% - 93.9%) in the HBIg group and 76.0% (58.6% - 93.4%) in the combination group after 40 months. Conclusions: The combined therapy of lamivudine and one-week HBIg has an effect equivalent to long-term therapy of high dose HBIg in HBV prophylaxis after liver transplantation at a much lower cost.

Tilted-Ring Modeling of Warped Spiral Galaxies

Hyun-Jin Bae,Aeree Chung,GyulaI .G. Józsa,Sungsoo Kim,Suk-Jin Yoon 한국천문학회 2010 天文學會報 Vol.35 No.2

Warp Characteristics of Spiral Galaxies in the Virgo Cluster

Hyun-Jin Bae,Aeree Chung,GyulaI. G. Józsa,Sung soo Kim,Suk-Jin Yoon 한국천문학회 2011 天文學會報 Vol.36 No.1

Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype

Kim, Hyo-Jin,Nam, Soon-Hyeun,Kim, Hyun-Jung,Park, Hyo-Sang,Ryoo, Hyun-Mo,Kim, Shin-Yoon,Cho, Tae-Joon,Kim, Seung-Gon,Bae, Suk-Chul,Kim, In-San,Stein, Janet L.,van Wijnen, Andre J.,Stein, Gary S.,Lian, Liss 2006 Journal of Cellular Physiology Vol.207 No.1

<P>Cleidocranial dysplasia (CCD) is an autosomal dominant disorder caused by haploinsufficiency of the RUNX2 gene. In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients. Four of seven mutations were novel: two nonsense mutations resulted in a translational stop at codon 50 (Q50X) and 112 (E112X); a missense mutation converted arginine to glycine at codon 131 (R131G); and an exon 1 splice donor site mutation (donor splice site GT/AT, IVS1 + 1G > A) at exon 1–intron junction resulted in the deletion of QA stretch contained in exon 1 of RUNX2. We focused on the functional analysis of the IVS1 + 1G > A mutation. A full-length cDNA of this mutation was cloned (RUNX2Δe1) and expressed in Chinese hamster ovary (CHO) and HeLa cells. Functional analysis of RUNX2Δe1 was performed with respect to protein stability, nuclear localization, DNA binding, and transactivation activity of a downstream RUNX2 target gene. Protein stability of RUNX2Δe1 is similar to wild-type RUNX2 as determined by Western blot analysis. Subcellular localization of RUNX2Δe1, assessed by in situ immunofluorescent staining, was observed with partial retention in both the nucleus and cytoplasm. This finding is in contrast to RUNX2 wild-type, which is detected exclusively in the nucleus. DNA binding activity was also compromised by the RUNX2Δe1 in gel shift assay. Finally, RUNX2Δe1 blocked transactivation of the osteocalcin gene determined by transient transfection assay. Our findings demonstrate for the first time that the CCD phenotype can be caused by a splice site mutation, which results in the deletion of N-terminus amino acids containing the QA stretch in RUNX2 that contains a previously unidentified second nuclear localization signal (NLS). We postulate that the QA sequence unique to RUNX2 contributes to a competent structure of RUNX2 that is required for nuclear localization, DNA binding, and transactivation function. J. Cell. Physiol. 207: 114–122, 2006. © 2005 Wiley-Liss, Inc.</P>

Heat Removal of the Coaxial Transmission Line in the ICRF Antenna

Suk-Kwon Kim,D.W. Lee,S.J. Wang,J.S. Yoon,J.G. Kwak,Y.D. Bae,B.G. Hong,C.K. Hwang 한국진공학회 2007 한국진공학회 학술발표회초록집 Vol.16 No.2

Neurochemical Alterations in Methamphetamine-Dependent Patients Treated with Cytidine-5′-Diphosphate Choline: A Longitudinal Proton Magnetic Resonance Spectroscopy Study

Yoon, Sujung J,Lyoo, In Kyoon,Kim, Hengjun J,Kim, Tae-Suk,Sung, Young Hoon,Kim, Namkug,Lukas, Scott E,Renshaw, Perry F American College of Neuropsychopharmacology 2010 Neuropsychopharmacology Vol.35 No.5

Cytidine-5′-diphosphate choline (CDP-choline), as an important intermediate for major membrane phospholipids, may exert neuroprotective effects in various neurodegenerative disorders. This longitudinal proton magnetic resonance spectroscopy (<SUP>1</SUP>H-MRS) study aimed to examine whether a 4-week CDP-choline treatment could alter neurometabolite levels in patients with methamphetamine (MA) dependence and to investigate whether changes in neurometabolite levels would be associated with MA use. We hypothesized that the prefrontal levels of N-acetyl-aspartate (NAA), a neuronal marker, and choline-containing compound (Cho), which are related to membrane turnover, would increase with CDP-choline treatment in MA-dependent patients. We further hypothesized that this increase would correlate with the total number of negative urine results. Thirty-one treatment seekers with MA dependence were randomly assigned to receive CDP-choline (n=16) or placebo (n=15) for 4 weeks. Prefrontal NAA and Cho levels were examined using <SUP>1</SUP>H-MRS before medication, and at 2 and 4 weeks after treatment. Generalized estimating equation regression analyses showed that the rate of change in prefrontal NAA (p=0.005) and Cho (p=0.03) levels were greater with CDP-choline treatment than with placebo. In the CDP-choline-treated patients, changes in prefrontal NAA levels were positively associated with the total number of negative urine results (p=0.03). Changes in the prefrontal Cho levels, however, were not associated with the total number of negative urine results. These preliminary findings suggest that CDP-choline treatment may exert potential neuroprotective effects directly or indirectly because of reductions in drug use by the MA-dependent patients. Further studies with a larger sample size of MA-dependent patients are warranted to confirm a long-term efficacy of CDP-choline in neuroprotection and abstinence.

Formation of Ag Nanostrings Induced by Lyotropic Liquid–Crystalline Phospholipid Multilayer

Kim, Suk J.,An, Hyeun H.,Lee, Seung J.,Lee, Jong H.,Kim, Young H.,Yoon, Chong S.,Suh, Sang H. American Chemical Society 2012 Langmuir Vol.28 No.1

<P>Morphological variation of the Ag nanoparticles embedded in a lyotropic phospholipid (1,2-dioleoyl-<I>sn</I>-glycero-3-phosphoethanolamine, DOPE) membrane during hydration was investigated. Hydration at 5 °C resulted in transformation of the Ag nanoparticles into a bundle of Ag nanostrings as the Ag nanoparticles conformed to the H<SUB>II</SUB> phase of the DOPE molecules. Above 30 °C, the nanoparticles quickly coarsened into large polygonal-shaped particles since high mobility of the lipid molecules overwhelmed the tendency for the Ag nanoparticles to order. The result provided an insight into the long-term stability of nanoparticles trapped in different lipid membranes depending on the structural ordering of the molecules.</P><P><B>Graphic Abstract</B> <IMG SRC='http://pubs.acs.org/appl/literatum/publisher/achs/journals/content/langd5/2012/langd5.2012.28.issue-1/la203721c/production/images/medium/la-2011-03721c_0008.gif'></P><P><A href='http://pubs.acs.org/doi/suppl/10.1021/la203721c'>ACS Electronic Supporting Info</A></P>

Observed deep circulation in the Ulleung Basin

Teague, W.J.,Tracey, K.L.,Watts, D.R.,Book, J.W.,Chang, K.-I.,Hogan, P.J.,Mitchell, D.A.,Suk, M.-S.,Wimbush, M.,Yoon, J.-H. Elsevier 2005 Deep-sea research. Part II, Topical studies in oce Vol.52 No.11

<P><B>Abstract</B></P><P>Records from 16 current meters and 23 pressure gauges moored near the sea floor in the Ulleung Basin of the southwestern Japan/East Sea (JES) characterized the deep circulation between June 1999 and July 2001. Mean currents range from 1 to 4cm/s and deep pressure anomalies range from 3 to 10mbar, with horizontal correlation scales of about 40km, and with integral time scales that range from about 5 to 20 days. Focusing here on the 90-day to interannual variability, synoptic maps of the deep currents and dynamic pressure fields determine that the deep circulation in the Ulleung Basin is cyclonic, with additional multiple cyclonic and anticyclonic cells that occur on sub-basin spatial scales. Over the Korea Plateau a northward deep outflow is observed that suggests an anticyclonic circulation pattern to the north. The annual average deep currents are remarkably similar for the 2 years, only slightly weaker in the second year. No seasonal pattern is discernable, except weakly at one or two sites.</P>