• Journal of Dairy Science and Biotechnology
• /
• v.14 no.2
• /
• pp.157-164
• /
• 1996

This study aimed increase the quality during ripening of Cheddar cheese made with proteinase-negative mutant of Streptococcus lactis KCTC 1913 selected by curing. The degradation of protein during cheese ripening were investigated by electrophoresis and chromatography. The results were summarized as follow ; 1. The number of lactic acid bacteria decreased with the ripening stage, and that of the control cheese decreased faster than that of the cheese made with mutant. 2. Polyacrylamide gel electrophoretic analysis of cheese caseins revealed no difference between the cheese made with mutant and the control cheese, but differences along with the ripening stage were evident. 3. On Sephadex G-25 column chromatography, the extracts of bitter components from the green cheese and 3 month ripended cheese were fractionated into 3 fractions. With the progress of ripening, bitter peptides were degraded to rather small peptides or free amino acids. 4. Sensory evaluation of the 3 month ripended Cheddar cheese found no significant differences in color but the cheese made with mutant evidenced higher palatability in flavor and better texture than the control cheese. 5. The yields of the cheddar cheese made with mutant was 0.14% higher than that of the control cheese.

• Journal of Life Science
• /
• v.23 no.11
• /
• pp.1325-1335
• /
• 2013

Working dogs, such as rescue dogs, military watch dogs, guide dogs, and search dogs, are selected by in-training examination of desired traits, including concentration, possessiveness, and boldness. In recent years, genetic information has been considered to be an important factor for the outstanding abilities of working dogs. To characterize the molecular features of the canine genes related to phenotypes for working dogs, we investigated the 24 previously reported genes (AR, BDNF, DAT, DBH, DGCR2, DRD4, MAOA, MAOB, SLC6A4, TH, TPH2, IFT88, KCNA3, TBR2, TRKB, ACE, GNB1, MSTN, PLCL1, SLC25A22, WFIKKN2, APOE, GRIN2B, and PIK3CG) that were categorized to personality, olfactory sense, and athletic/learning ability. We analyzed the chromosomal location, gene-gene interactions, Gene Ontology, and expression patterns of these genes using bioinformatic tools. In addition, variable numbers of tandem repeat (VNTR) or microsatellite (MS) polymorphism in the AR, MAOA, MAOB, TH, DAT, DBH, and DRD4 genes were reviewed. Taken together, we suggest that the genetic background of the canine genes associated with various working dog behaviors and skill performance attributes could be used for proper selection of superior working dogs.

• Economic and Environmental Geology
• /
• v.11 no.4
• /
• pp.127-141
• /
• 1978

The major structures characteristic of the Taebaegsan sedimentary basin were regionally analyzed with special reference to its southeastern extension to the Yeonhwa-Ulchin district of economic interest in zinc-lead mineralization. The basin geometry, basement setting, sedimentary components, and the characteristics of deformation and igneous activity of the Taebaegsan basin differ basically from those of the adjacent mobile belt of the Ogcheon geosyncline, although the latter affected the basin's western side considerably. The subrectangular shape of the Taebaegsan basin reflects the checkered pattern of basement-block arrangement, and the carbonate-dominated lithologic components of the basin-fill indicate a cratonic depositional setting, which is comparable to some of the North American mid-continental craton. The Taebaegsan basin, however, has somewhat been less stable than the North American megacraton that is reflected in the former's thicker sedimentary fill and steeper faults of later deformation, showing a tendency to increase in thickness close to the basement-block boundaries, which may indicate contacts of possibly detached cratonic blocks of Precambrian age; these weak zones of block boundaries have been the loci of repeated sedimentation, deformation and related igneous intrusions. A series of downthrown or uplifted tilted blocks, in which the Cambro-Ordovician sedimentary wedges and the late Cretaceous to early Tertiary igneous intrusives are involved, occurs intermittently across the Yeonhwa-Ulchin district in a noticeable pattern of en echelon type. These sedimentary wedges are correlated to the Cambro-Ordovician section of the Hambaeg syncline to the west in stratigraphy and lithology, and are considered to have resulted from the northeastern and/or northwestern cross-faulting of the pre-existing syncline belt of easterly trend, extended from the main portion of the Hambaeg syncline. These structural junctions (or intersections) of the earlier syncline belt and the later cross-faults have been acted as a guide to ascending igneous materials and hydrothermal ore-forming fluids to form a zone of zinc-lead skarn deposits across the Yeonhwa-Ulchin district showing a stepwise recurrence of these deposits toward the east.

• Investigative Magnetic Resonance Imaging
• /
• v.18 no.3
• /
• pp.208-218
• /
• 2014

Purpose : To evaluate the relationship between the speed of enhancement of hepatic hemangiomas on gadolinium-enhanced MRI and ADC values by using various parameters, including the D, f, $D^*$ and $ADC_{fit}$ on intravoxel incoherent motion (IVIM) MR Imaging. Materials and Methods: The institutional review board approved this retrospective study. A total of 47 hepatic hemangiomas from 39 patients were included (20 men and 19 women). The hemangiomas were classified into three types according to the enhancement speed of the hepatic hemangiomas on gadolinium-enhanced dynamic T1-weighted images: rapid (Type A), intermediate (Type B), and slow (Type C) enhancement. The D, f, $D^*$ and $ADC_{fit}$ values were calculated using IVIM MR imaging. The diffusion/perfusion parameters and ADC values were compared among the three types of hemangiomas. Results: Both the $ADC_{fit}$ and D values of type C were significantly lower than those of type A (P = 0.0022, P = 0.0085). However, for the f and $D^*$, there were no significant differences among the three types. On DWI with all b values (50, 200, 500 and $800sec/mm^2$), the ADC values of type C were significantly lower than those of the type A (P < 0.012). For b values with $800sec/mm^2$, the $ADC_{800}$ values of the type C hemangiomas were significantly lower than those of type B (P = 0.0021). We found a negative correlation between hepatic hemangioma enhancement type and $ADC_{50}$ (${\rho}=-0.357$, P = 0.014), $ADC_{200}$ (${\rho}=-0.537$, P = 0.0001), $ADC_{500}$ (${\rho}=-0.614$, P = 0.0001), and $ADC_{800}$ (${\rho}=-0.607$, P = 0.0001). Therefore, four ADC values of $ADC_{50}$, $ADC_{200}$, $ADC_{500}$, and $ADC_{800}$ were decreased with decreasing enhancement speed. Conclusion: Hepatic hemangiomas had variable ADCs according to the type of enhancement, and the reduced ADCs in slowly enhancing hemangiomas may be related to the reduced pure molecular diffusion (D).

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.24 no.1
• /
• pp.26-36
• /
• 2024

Lesch-Nyhan syndrome (LNS) is an Clinical symptoms can range from mild to severe depending on residual enzyme activity and genetic mutations. In Korea, 27 cases of LNS have been reported. We report the results of an 11-year comparative follow-up of two cases of children who visited because of pink diapers, one who died from LNS with no residual enzymes and one case with partial residual enzymes. Case 1: During follow-up, seizures, developmental delay, and regression were observed. The boy experienced insomnia and severe constipation. He exhibited self-mutilating behavior, a grand mal seizure, scoliosis with severe spasticity, truncal hypotonia, choreoathetoid movement, and ataxia. After prolonged emaciation, staghorn calculi, and recurrent pneumonia, the patient died suddenly at the age of 11 years. Genetic testing revealed a hemizygous HPRT1 variant (c.151C>T (p.Arg51Ter)). Uric acid level was 10.5 mg/dL (normal range: ~3.5-7.9) and HPRT activity 0.02 nmol/hr/spot (10-23.8 nmol/hr/spot). Case 2: During follow-up, the patient remained underweight. He has normal intelligence attending primary school. Self-mutilation symptoms were not observed. Regular renal ultrasonography did not reveal urolithiasis. The patient had a hemizygous HPRT1 variant (c.35A>C (p.Asp12Ala)). Uric acid level and HPRT activity were 11 mg/dL and 0.56 nmol/hr/spot. Pink diapers after the neonatal period and severe protein aversion, neurological problems, and kidney stones, differentiation for LNS is necessary. When suspected, serum uric acid levels, HPRT enzyme activity, and molecular biological tests may be helpful in predicting the prognosis of LNS.

• Proceedings of the Korean Society for Food Science of Animal Resources Conference
• /
• 1995.11a
• /
• pp.1-48
• /
• 1995

식생활은 인간 생활의 주체이고 먹는다는 것은 그 수단이다. 그중 중요한 하나의 명제는 인간이 놓여진 여러 환경에서 어떻게 건강을 유지하고 그 개체가 소유하고 있는 능력을 최대치까지 생리적으로 성장 발전시킴과 동시에 최대한 수명을 연장시키기 위한 식물 섭취방법을 마이크로 레벨까지 해명하는데 있다. 인간은 일생동안 엄청난 양의 음식물을 먹는다(70세 수명일 경우 200만 파운드 즉 체중의 1,400배). 그러나 먹기는 먹되 자신의 건강과 장수를 위하여 어떤 음식을 어떻게 선택하여 어떻게 먹어야 하는 문제가 매우 중요하다. 최근 우리나라도 국민 소득이 늘면서 식생활은 서구화 경향으로 기우는 듯하다. 공해를 비롯한 수입식품 등 여러 가지 문제점이 제기됨에 따라 자연식과 건강식을 주장하는 소리가 높이 일고 있다. 그중에는 축산 식품이 콜레스테롤 함량이 다른 식품에 비하여 높게 함유하고 있다는 것으로 심혈관질환의 주범인양 무차별 강조하는 나머지 육식공포 내지는 계란 등의 혐오감 마저 불러 일으키는 경향까지 있는 듯하다. 따라서 본논고에서는 축산식품중의 콜레스테롤 함량수준이 과연 성인병의 주범인지 아니면 다른 지방산과 관련해서 올바르게 평가하고 그 문제점과 대책을 개관해 보고 요약하면 다음과 같다. 1. 사람은 유사이래 본능적으로 주변의 식물이나 동물의 고기를 먹고 성장하여 자손을 증식시키고 어느 사이에 늙으면 죽음을 맞이 하는 싸이클을 반복하면서 기나긴 세월동안 진화를 하여 오늘날의 인간으로서의 자태를 이루었다. 유인원과 같은 인류의 선조들은 수렵을 통해 육식을 많이 하였을 것이므로 인간은 원래 육식동물이 아닐까? 구석기시대의 유물을 보면 많은 뼈가 출토되고 “얄타미라”나 “라스코” 동굴벽화가 선명하게 묘사되고 있다. 2. 우리나라 선조 승구족의 일파가 백두산을 비롯한 만주 송화강 유역에 유입되면서 수렵과 목축을 주요 식품획득의 수단으로 식품문화권을 형성하면서 남하하여 한반도 민족의 조상인 맥족(貊族)으로 맥적(貊炙)이라고 하는 요리(오늘날의 불고기)를 먹었다는 기록이 있다. 3. 인간의 수명을 1900년대로 거슬러 올라가서 뉴질랜드가 세계최장수국(호주는 2위)로서 평균수명은 남자 58세, 여자 69세인 반면 일본과 한국은 당시 남자 36세, 여자 37세이던 것이 일본은 1989년에 이르러 세계 최장수국으로 등장했으나 1990년 당시 뉴질랜드${\cdot}$호주 등은 목축 및 밀(小麥) 생산국가였기 때문이라는 것과 일본은 오늘날 합리적인 식생활 국가라는 것을 간과해서는 안된다. 4. 우리나라 10대 사망원인중 (1994년도) 뇌혈관질환이 1위, 교통사고 2위, 암이 3위 순위로서 연령별로는 10~30대의 불의의 사고(교통사고), 40~60대는 암, 70대 이상은 뇌혈관질환이 가장 많다. 구미${\cdot}$일 7개국 정상국가들은 심질환 사망이 가장 높다. 5. 식생활의 변화에 있어서 우리나라는 주식으로 섭취해 왔던 곡류는 70년 대비 94년에는 0.7배 감소된 반면 육류 5배, 계란 2.4배, 우유는 무려 29.3배 증가되었다. 식생활 패턴이 서구화 경향으로 바뀌는 것 같다. 6. 71년도 우리나라의 지질섭취량은 국민 1인당 1일 평균 13.1g에 섭취에너지의 5.7%수준이었으나 92년도에는 34.5g으로서 총에너지 섭취량의 16.6%에 달하고 총섭취 지방질중 동물성 섭취 비율은 47%를 차지 한다. 국민 평균 혈청콜레스테롤 농도는 80년에 비해 88년에는 11%가 증가되었고 80년에 210mg/dl 이상 되는 콜레스테롤 혈증인 사람의 비율이 5%에서 88년에는 23%로 크게 증가했다. 7. 세계 정상국가들의 단백질 즉 축산식품의 섭취는 우리나라보다 적게는 2배, 많게는 6~7배 더 섭취하고 90년도 우리나라의 지질섭취량은 일본의 1/3수준에 불과하다. 8. 콜레스테롤은 인체를 비롯한 모든 동물체에 필수적으로 분포하고 있는 것으로 체내 존재하고 있는 총량은 90~150g, 이중 혈청콜레스테롤은 4%(6g)를 차지하고 있음에도 불구하고 이 아주 적은 콜레스테롤에 일희일비(一喜一悲) 논쟁은 60~70년 끄러오고 있다. 9. 콜레스테롤의 생체내 기능으로서는 (1) 세포벽의 지지물질 (2) 신경세포 보호막물질 (3) 담즙산의 합성 (4) 비타민 D의 합성 (5) 임신시에 반듯이 필요한 분자 (6) 기타 여러 가지 기능을 수행하는 것으로 필수적인 물질이다. 10. 우리가 식이를 통해서 섭취 콜레스테롤을 550mg정도를 섭취한다고 하더라도 이 정도의 양은 배설 소모되는 양과 거의 맞먹는 양이다. 피부와 땀샘에서 소실되는 양만도 100~300mg에 달하기 때문에 미국농무성에서 섭취량을 300mg로 제한하는 것은 무의미하다. 11. 콜레스테롤 운반체로서의 지단백질은 그 밀도가 낮은 것으로부터 킬로미크론(chylomicron), 초저밀도 지단백질(VLDL), 저밀도 지단백질(LDL) 및 고밀도 지단백질(HDL)으로 나누는데 LDL은 혈청콜레스테롤 중 약 70%, HDL은 약20%를 함유한다. 12. 혈중 콜레스테롤 수준에 영향을 미치는 요인을 열거하여 보면 다음과 같다. 1) 음식을 통해서 섭취되는 콜레스테롤 중 단지 10~40%정도가 흡수되고, 체내에서 합성되는 콜레스테롤이 증가할수록 식이콜레스테롤은 실제 혈청콜레스테롤 수준에 거의 영향을 미치지 않으므로 식이중함량에 대하여 공포를 느끼고 기피할 필요가 없다. 2) 고도불포화지방산, 단가불포화지방산, 포화지방산의 비 즉 P/M/S의 비가 균형되도록 권장한다. 3) 동맥경화를 비롯한 성인병의 원인이 되는 혈전증에는 EPA의 양을 높여줌으로서 성인병을 예방할 수 있다. 4) 오메가6지방산 아라키도닉산과 오메가3지방산인 EPA로 유도되는 에이코사에노이드 또는 프로스타노이드는 오메가6와 3지방산을 전구체로 하여 생합성되는 중요한 생리활성 물질이다. 5) 사람은 일반적으로 20세에서 60세까지 나이를 먹어감에 따라 혈중 콜레스테롤 수준이 증가하고 60세 이후부터는 일정한 수준을 유지하며 심장보호성 HDL-콜레스테롤은 감소하는 반면에 죽상경화성 LDL콜레스테롤은 증가한다. 6) 높은 HDL콜레스테롤 수준이 심장병 발생 위험요인을 감소시키는 기능을 갖고 있기 때문에 좋은 HDL이라 부르고, LDL은 나쁜 콜레스테롤이라 부르기도 하는데, 이것은 유전적 요인보다도 환경적 요인이 보다 큰 영향을 미친다. 7) 이것은 생활 형태와 영양섭취상태를 포함해서 개인적 생활패턴에 영향을 받는다. 8) 많은 실험에서 혈중 콜레스테롤 상승은 노년의 가령(加齡)에 적응하기 위한 자연적 또는 생리적인 세포의 생화학적이고 대사적인 기능을 위해 필수적일 수 있다는 것을 간과해서는 안될 것이다. 이 점으로 미루어 노년의 여성들을 위한 콜레스테롤 농도를 200mg/dl이 가장 알맞은 양이 아닌 듯하다. 9) 스트레스는 두가지 모양으로 유발되는데 해로은 스트레스(negative), 이로운 스트레스(positive)로서 긴장완화는 혈중 콜레스테롤 농도를 10% 떨어진다. 10) 자주 운동을 하는 사람들은 혈중 HDL콜레스테롤치가 운동을 하지 않는 사람보다 높다. 육체적인 운동의 정도와 혈중 HDL콜레스테롤 농도와는 정비례한다. 11) 흡연은 지방을 흡착시키므로 혈전증의 원이이 되며 혈관속의 HDL농도를 감소시킨다. 12) 에너지의 과잉섭취에 의한 체중 증가느 일반적으로 지단백질대사에 영향을 미치고, 간에서는 콜레스테롤 과잉 생산과 더불어 VLDL콜레스테롤의 LDL콜레스테롤 혈증을 나타냄으로 운동과 더불어 비만이 되지 않도록 하여야 한다. 13. 콜레스테롤 함량에 대한 조절기술 1) 식품의 우열을 평가할 때 단순히 동물성 또는 식물성 식품으로 분류해서 총괄적으로 논한다는 것은 지양되어야 한다. 이것은 그 식품에 함유하고 있는 지방산의 종류에 따라서 다르기 때문이다. 2) 인체의 원할한 기능 유지를 위해서는 P /M /S비율 뿐만 아니라 섭취 지방질의 오메가6 /오메가3계 지방산의 비율이 모두 적절한 범위에 있어야 하며 한두가지 지방산만이 과량일 때는 또 다른 불균형을 일으킬 수 있다는 점을 알아야 한다. 3) 닭고기는 오메가6지방산 함량을 높이기 위하여 사료중에 등푸른 생선이나 어분이나 어유를 첨가하여 닭고기는 첨가수준에 따라 증가됨을 알 수 있다. 4) 오늘날 계란내의 지방산 조성을 변화시켜 난황내의 오메가 3계열 지방산 함량을 증가시킨 계란의 개발이 활발해졌다. 14. 계란 콜레스테롤에 대한 소비자들의 부정적 인식을 불식시키고자 계란의 클레스테롤 함량을 낮추는 과제가 등장하면서 그 기술개발이 여러모로 시도되고 있으나 아직 실용 단계에 이르지 못했다. 15. 계란의 콜레스테롤 문제에 대한 대책으로서 난황의 크기를 감소시키는 방법에 대한 연구도 필요하다. 16. 계란 중 콜레스테롤 함량 분석치는 표현 방식에 따라서 소비자들을 혼란시킬 가능성이 있다. 또한 과거에는 비색법으로 분석했으나 오늘날은 효소법으로 분석하면 분석치에 상당한 차이가 있다. 17. 소비자의 요구를 만족시키고 버터 소비를 촉진시키기 위해 콜레스테롤을 감소시키는 물리적${\cdot}$생물학적 방식이 제안되어 있으나 현장적용이 가능한 것은 아직 없다. 18. 우리나라에서 이미 시판되고 있는 DHA우유가 선보였고 무콜레스테롤 버터의 경우 트란스(trans)형 지방산에 관해서는 논란의 여지가 많을 것이다. 끝으로 국가 목표의 하나는 복지사회 건설에 있고 복지국가 실현에는 국민 기본 욕망의 하나인 식생활 합리화가 선행되어야 한다. 소득이 늘고 국가가 발전해감에 따라 영양식${\cdot}$건강식 및 기호식을 추구하게 됨을 매우 당연한 추세라 하겠다. 우리의 식생활이 날로 향상되어 지난날의 당질 위주에서 점차 축산물쪽으로 질적 개선이 이루어진다는 것은 고무적임에 틀림없다. 이 축산물을 통한 풍요로운 식의 문화를 창출하면서 건강과 장수 그리고 후손에 이르기까지 번영하고 국가 경쟁력 강화에 심혈을 기우려야 할 때이다.

• Journal of Life Science
• /
• v.19 no.4
• /
• pp.423-428
• /
• 2009

Selenium was investigated using human origin preadipocytes to see whether it possesses preventive or therapeutic effects for obesity. Unveiling the potential of selenium in the reduction of adipogenesis can help predict the therapeutic capabilities of selenium in obesity. In the present study, the molecular mechanism of the inhibition of adipogenesis by selenium was explored to unravel the involvement of the AMP-activated protein kinase. There is emerging evidence that AMPK, a sensor of cellular energy status, is a possible molecular target of controlling adipocyte differentiation on the basis of discovery that AMPK is responsible for the major metabolic responses to exercise, and integration of nutritional and hormonal signals to modulate feeding behavior or energy expenditure in the hypothalamus. Treatment of selenium resulted in inhibition of the adipocyte differentiation process and induction of mature apoptosis in 3T3-L1 adipocytes. We hypothesized that selenium may exert anti-adipogenic potential though modulating AMPK. We have found that selenium significantly activated AMPK and phosphorylated its substrate acetyl-CoA carboxylase ($ACC-serine^{79}$) during the inhibitory process of adipocytes. Also, the inhibition process of adipocyte differentiation by selenium was comparable to either reveratrol or a synthetic AMPK activator, AICAR (5-aminoimidazole-4-carboxamide-1-${\beta}$-D-ribofuranoside). To evaluate the involvement of AMPK in anti-lipogensis, we applied AICAR and Compound C, an AMPK inhibitor, to 3T3-L1-adipocytes and found that AMPK is required for the adipocyte differentiation blocking process. These results suggest that selenium has a potential to control adipogenesis and that this effect is mediated by AMPK, an essential kinase for both inhibition of adipocyte differentiation and apoptosis of mature adipocytes.

• Korean Chemical Engineering Research
• /
• v.54 no.5
• /
• pp.653-658
• /
• 2016

Poly(ether-block-amide)(PEBAX$_{(R)}$) resin is a thermoplastic elastomer combining linear chains of hard-rigid polyamide block interspaced soft-flexible polyether block. It was believed that the hard polyamide block provides the mechanical strength and permselectivity, whereas gas transport occurs primarily through the soft polyether block. The objective of this work was to investigate the gas permeation properties of carbon dioxide and methane for PEBAX$^{(R)}$-1657 membrane, and compare with those obtained for other grade of pure PEBAX$^{(R)}$, PEBAX$^{(R)}$-2533 and PEBAX$^{(R)}$ based hybrid membranes. The hybrid membranes based PEBAX$^{(R)}$ were obtained by a sol-gel process using GPTMS ((3-glycidoxypropyl) trimethoxysilane) as the only inorganic precursor. Molecular structure and morphology of membrane were analyzed by $^{29}Si$-NMR, DSC and SEM. PEBAX$_{(R)}$-2533 membrane exhibited higher gas permeability coefficients than PEBAX$^{(R)}$-1657 membrane. This was explained by the increase of chain mobility. In contrast, ideal separation factor of $CO_2/CH_4$ for PEBAX$^{(R)}$-1657 membrane was higher than PEBAX$^{(R)}$-2533 membrane. It was explained by the decrease of diffusion selectivity caused by increase of chain mobility. For PEBAX$^{(R)}$/GPTMS hybrid membrane, gas permeability coefficients were decreased with reaction time. Gas permeability coefficient of $CH_4$ was more significantly decreased than $CO_2$. It can be explained by the reduction of chain mobility caused by the sol-gel process, and strong affinity of PEO segment with $CO_2$. Comparing with pure PEBAX$^{(R)}$-1657 membrane, ideal separation factor of $CO_2/CH_4$ for PEBAX$^{(R)}$/GPTMS hybrid membrane has decreased to 4.5%, and gas permeability coefficient of $CO_2$ has increased 3.5 times.

• Clinical and Experimental Pediatrics
• /
• v.49 no.11
• /
• pp.1158-1166
• /
• 2006

Purpose : The purpose of this study is to make a diagnostic classification and discuss a diagnostic strategy of floppy infants by investigating clinical, neurological, electrophysiological, and genetic analysis of infants admitted to intensive care units with the complaint of hypotonia. Methods : A retrospective study was performed from Jan. 1993 to Dec. 2005 in neonatal and pediatric intensive care units of Seoul National University Children's Hospital. Clinical features and all tests related to hypotonia were investigated. Results : There were 21 cases of floppy infants admitted to intensive care units. Final diagnosis was classified as centra (7 cases[33.3 percent]), peripheral (11 cases [52.4 percent]), and unspecified (3 cases [14.3 percent]). Among the central group, three patients were diagnosed as hypoxic ischemic encephalopathy, two patients as Prader-Willi syndrome, one patient as chromosomal disorder, and one patient as transient hypotonia. Among the peripheral group, four patients were diagnosed as myotubular myopathy, three patients as SMA type 1, two patients as congenital myotonic dystrophy, one patient as congenital muscular dystrophy, and one as unspecified motor-neuron disease. Motor power was above grade 3 on average, and deep tendon reflex was brisk in the central group. Among investigations, electromyography showed 66 percent sensitivity in the peripheral group, and muscle biopsy was all diagnostic in the peripheral group. Brain image was diagnostic in the central group, and Prader-Willi FISH or karyotyping was helpful in diagnosis in central group. Morbidity and mortality was more severe in the peripheral group Conclusion : Classification of diagnosis by clinical characteristics in this study, and application of investigations step by step, may provide an effective diagnostic strategy.

• Journal of Science and Technology Studies
• /
• v.5 no.1 s.9
• /
• pp.55-92
• /
• 2005

The factors contributing to the formation of an important scientific concept in South Korea and its circulation in the society are the scientific knowledge that had been already formed, matured, and established in the U.S.A, Europe and Japan and has been introduced into Korea, and the institutions that have been formed during the recent modernization in South Korea. The concept of 'genetic information' cannot be an exception in this context. The concept of genetic information is the one that has been extended and intensified by the genomics and bioinformatics formed and matured through the Human Genome Projects from the former concept of inheritance or heredity within the framework of classical and molecular genetics. The purpose of this study was to find out 'how the production structure of genetic information in South Korea has been formed', under the perspective of the conceptual, epistemic, and institutional holisticity or integratedness in the concept and knowledge production structure idealized in Western advanced nations. The discourse of genetic engineering popular in the mid 1980's in South Korea has catalyzed the development of molecular biology. However, the institutional balance that had been established for the biochemistry departments in Natural Science College and Medical College was not formed between the genetic engineering and genetics departments in South Korea. Therefore, they were unable to achieve the more integrative and macro-level disciplinary impact on life sciences, largely due to institutional lack of the capable (human) genetics departments in some leading Korean colleges of Medicine. In genomics, the cutting-edge reprogramming and restructuring of the traditional genetics in the West, South Korea has not invested, even meagerly, in the infrastructure, fund, and research and development (R & D) for the Basic or First Phase of the research trajectory in the Human Genome Project. Without a minimal Basic Phase, the genomics research and development in Korea has been running more or less for the Advanced or Second Phase. Bioinformatics has started developing in Korea under a narrow perspective which regards it as a mere sub-discipline of information technology (IT). Having developed itself in parallel with genomics, bioinformatics contains its own unique logics and contents that can be both directly and indirectly connected to the information science and technology. As a result, bioinformatics reveals a defect in respect of being synergistically integrated into genetics and life sciences in Korea. Owing to the structural problem in the production, genetic information appears to be produced in a fragmented pattern in the Korean society since its fundamental base is weak and thin. A good example of the conceptual and institutional fragmentedness is that 'the genetics of individual identification' is not a normal integrated part of the Korean genetics, but a scientific practice exercised in the departments of legal medicine in a few Medical Colleges. And the environment contributing to the production structure of genetic information in South Korea today comprises 'sangmyung gonghak'(or life engineering) discourse and non-governmental organization movement.