• Title/Summary/Keyword: Type-I muscle

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A Study on the Growth of Pen Shell, Atrina pectinata japonica Transplanted into Duekryang Bay in Southern Korea I. Environmental Factors and Transplanted Effect on Different Shell Size Groups (득량만에 이식한 키조개, Atrina pectinata japonica의 성장에 관한 연구 I. 양식장 환경 및 각장 크기별 이식효과)

  • 양문호;최상덕;노용길;김성연;정춘구
    • Journal of Aquaculture
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    • v.11 no.2
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    • pp.193-201
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    • 1998
  • This study was carried out to investigate the enviromental quality and the growth of transplanted pen shell, Atrinna pectinata japonica. Followings are the results of growth of transplanted pen shell with respect to the shell size groups from the natural habitat (Usando) in May 1995, and cultivated upto November in the transplantated area (Soomoonri). The water depth of transplantated area andnatural habitat were 3m, 20~25m, respectively. The seawater temperature of the two culturing farms were ranged of 10.9~$27.8^{\circ}C.$, 8.5~$30.0^{\circ}C.$, respectively at the lowest in November adn the highest in July. The seawater salinity of the two areas were ranged of 29.54~35.26$^0\prime\infty$, 28.75~36.31$^0\prime\infty$, respectively at the lowest in July and the highest in November. The phosphoric acid ($PO_4$-P) of the two areas were 0.09~$1.14 ^{\mu}$g-at/l, 0.23~$1.33 ^{\mu}$g-at/l, respectively at the lowest in June and the highest in September. The bottom type of the two areas was a silty mud, 85.23% (82.17~87.26%) in natural habitat and 92.12% (90.76~92.94$^0\prime\infty$) in transplanted area. In this study area, phytoplankton were composed of 19 species. Of these 19 species, Skeletonema costatum was dominant species in seawater between natural habitat and transplantatied area, and 157 cells/ml, 165 cells/ml at August respectively. Stock of phytoplankton in transplantated area were more than those of natural habitat except June and November. The growth of shell length, shell height, total weight, soft part weight and posterior adductor muscle weight of pen shell on different size groups (SL 10, 10~15, 15~20, 20cm) were excellent in shell length of 10cm group, and 99.32%, 107.66%, 871.09%, 951.26% and 1,223.76%, respectively. The survival rate of pen shell was 98.10% in the shell length of 10cm groups, 90.35~94.76% in the others groups. The growth of shell length, total weight, soft part weight and posterior adductor muscle weight of pen shell in transplantated area were more 1.3, 2.6, 2.7 and 4.5 times than those of natural habitat.

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The status of care satisfactions of the disabled persons with community-based rehabilitation plan (장애인의 치료만족도에 따른 지역사회중심재활에 관한 연구)

  • Lee In-Hak;Park Rae-Joon;Kim Mi-Ran
    • The Journal of Korean Physical Therapy
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    • v.10 no.2
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    • pp.13-32
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    • 1998
  • A questionaire was conducted to obtain ran satisfactions in information of the 325 disabled persons among the total 9,314 handicapped people in Taejon area, and was surveyed during the period of June 1 to August 31, 1997. The results are as follows: 1. Among the studied disabled persons, $54.5\%$ of male, and $45.5\%$ of female. 2. Before disabled in occupation, $32.0\%$ of out of work group were high, $6.5\%$ of farm, student group were low. Before disabled in occupation by gender, male group is $29.9\%$ of out of work group were high, $0.6\%$ of housework group were low. female group is$34.5\%$ of out of work group were high, $4.7\%$ of student group were low(P<0.001). 3. After disabled in occupation, $75.1\%$ of out of work group wert high, $10.8\%$ of in working group were low. After disabled in occupation by gender, male group is $87.6\%$ of out of work group were high, $1.7\%$ of housework group were low. female group is $60.1\%$ of out of work group were hgh, $10.8\%$ of in working group were low(P<0.001). 4. Medical security status, $64.9\%$ of medical aid group wore high, $35.1\%$ of medical insurance group were low. Medical security status by gender, male group is $71.2\%$ of medical aid group were high, $28.8\%$ of medical insurance group were Iew. female group is $57.4\%$ of medical aid group wan high, $42.6\%$ of medical insurance were low(P<0.01). 5. Disabled record status, $68.6\%$ of record group were high, $31.4\%$ of non group were low. Disabled record status by gender, male group is $78.5\%$ of record group were high, $21.5\%$ of non record group were low. female group is $56.6\%$ of record group were high, $43.4%$ of non record group were low(P<0.001). 6. Disabled duration status, $42.2\%$ of loss than 9 year group were high, $10.2\%\;of\;20-29,\;30-39$ year group were low. Disabled duration status by gender,'male group is $44.6\%$ of less than 9 year group were high, $6.2\%$ of 20-29 year group wert low. female group is $39.2\%$ of less than 9 year were high, $39.2\%$ of 30-39 year group were low (P<0.05). 7. Cause of disabled status, $26.5\%$ of other group, $23.7\%$ of congenital group were high. $9.2\%$ of unknown group, $6.8\%$ of industry accident, $2.5\%$ of drug poisoning group were low. Cause of disabled status by gender, male group is $27.7\%$ of other group, $23.7\%$ of congenital group were high, $2.3\%$ drug poisoning group were low. female group is $25.0\%$ of other group, $20.9\%$ of congenital group were high, $2.5\%$ of drug poisoning group were low (P<0.001). 8. Disabled type status, $19.4\%$ of double disabled group were high, $2.2\%$ of muscle paralysis group were low. Disabled type status by gender, male group is $22.0\%$ of double disabled group were high, $2.3\%$ of muscle paralysis group were low. female group is $23.3\%$ of rheumatism group were high, $0.7\%$ of amputation group were low(P<0.001). 9. Smoking status, $73.2\%$ of non smoking group were high, $26.8\%$ of smoking group were low. Smoking status by gender, male group is $59.9\%$ of double non smoking group were high, $40.1\%$ of Smoking group were low, female group is $89.2\%$ of non smoking group were high, $10.8\%$ of smoking group were low(P<0.001). 10. Drinking status, $80.0\%$ of non drinking group were high, $20.0\%$ of drinking group were low. Drinking status by gender, male group is $72.3\%$ of non drinking group were high, $27.7\%$ of drinking group were low. female group is $89.2\%$ of non drinking group were high, $10.8\%$ of drinking group were low(P<0.001). 11. Stress level status, $52.9\%$ of high stress group were high, $1.8\%$ of very severe stress group were low. Stress level status by gender, male group is $50.8\%$ of high stress group were high, $2.3\%$ of very severe stress group were low. female group is $55.4\%$of high stress group were high, $1.4\%$ of very severe stress group were low. 12. Heed status, $28.0\%$ of economic support were high, $4.6\%$ of speech therapy, brace group were low. Need status by Sender, male group is $2i2\%$ of economic support group were high, $4.5\%$ of bracegroup were low. female group is$27.7\%$ of economic support group were high, $3.4\%$ of speech therapy group were low. 13. Care satisfaction comparision, 3.09, 0.55 point of IBR, 4.01, 0.45 point of CHR(P<0.001). 14. The variables which had positive correlation with IBR were gender(r=0.1406, P<0.01), age(r=0.1872, p<0.001), economic level(r=0.1246, P<0.05), disabled record(r=0.1137, P<0.05), education level(r=-0.1122. p<0.05). 15. The variables which had positive : correlation with CBR were gender(r=0.1613, P<0.01), age(r=0.2255, P<0.001). list of family(r=0.12i3, P<0.01), disabled record(r=0.1273, P<0.05). education level(r=-0.1294, P<0.01).

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The clinical study of Myasthenia Gravis (중증근무력증(重症筋無力症)에 대(對) 임상적(臨床的) 연구(硏究))

  • Chae, Byung-Yoon
    • The Journal of Korean Medicine
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    • v.17 no.1 s.31
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    • pp.190-211
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    • 1996
  • Generally the Myasthenia Gravis is classified into two of hereditary factor and acquement. Aquired Myasthenia Gravis was Quite well known to be caused by the autoimmune mechanism. Not in accurateness, on the hereditary, acetylcholine receptor antibody was to be analyzed very high in their parents and brothers. Also Myasthenia Gravis is a chronic disease characterized by voluntary muscle weakness and fatigue. above all, ocular Myasthenia Gravis is characterized clinically by blepharoptosis and external ophthalmoplegia and to be showed abut 90% cases and so oriental medicine can not but deal with myasthenia gravis at blepharoptosis. Accordinglv 20 out patients with Myasthenia Gravis were clinical study and observation as to the sex, age, progress state of MG, blood type, history, main symptom, liking for warm and cool food and tepidity, state of pulse, treatment of acupuncture and administration of oriental medicine etc. The results were as follows. 1. There was investigaed on the frequency of attack for sex, age, oculus dexter, oculus sinister, oculus uterque. Among the 20 patients, the number of female were 60% with 12 cases and male were 40% with 8 cases, therefore it was the rate of 6 : 4. the patients under 10 ages and 40 ages were 20% with 4 cases, 10 ages and 50 ages were 15% with 3 cases, 20, 30, 60 ages were 10% with 2 cases. And then oculus uterque was 90% with 18 cases, oculus sinister was 10% with 2 cases and oculus dexter were none of them. 2. Stage I were 50% with 10 patients, stage $II_A$ were 30% with 6 patients and stage $II_B$ were 20% with 4 patients, on the clinical stage and too class I were 20% with 4, class II were 45% with 9, class III were 35% with 7, in the functional activity the patients with chest heavy were 15% with 3 and hyperthyroidism were 10% with 2. 3. Hospital which patients had used to before came to this hospital were 10 university hospital and 6 local clinic. 4. The duration of disease was from 3 months to 30 years, the patients suffering between 3 months and within 1 year were 25% with 5 cases, 1-2 years were 30% with 6 cases, therefore within 2 years were 55%. 4-5 years were 15%, over 7 years were appeared less than 10%. 5. In the main symptom, all of patients were appeared to be heavy in opening their eyes the patients with blephroptosis were 70% with 14 cases on the oculus uterque, oculus sinisterf and oculus dexter, there were 20% with 4 eases each other in the oculogyation incomplete. visual failing, ophthalmoxerosis, strabismus etc and indigetion, frequency of urine(feel hurt), mild stools(or diarrea), oversensitiveness etc. but in addition, all of the other were 10%. 6. In the distribution of blood type, 0 types were 45% with 9 cases, A types were 25% with 5 cases, B and AB types were 15% each other. 7. For the rates of patients of liking for warm and cool food or tepidity, patients of liking for warm food possess 45% with 9 cases, and cool food possess 35% with 7 and tepidity possess 20% with 4, and then most of patients liking for warm food were females and cool food were much more males than females. 8. Hyunsae(弦細) were 40% with 8 cases, Buhurl(浮滑) were 20% with 4 cases, Hyunsak(弦數) were 15% with 3 cases, and in addition, the others were 10%, among 7 types of pulses. 9. The patients with less than 1 week were 40% with 8 cases, and there were female most of them and over 4 weeks were 20% and 1-2weeks were 15%, in the duration acupuncture treatment. 10. 15 kinds of prescriptions were administrated with oriental medicine from 1 week to 20weeks 1_2 weeks were 25.71% with 9 cases, 3 weeks were 17.14% with 6 cases and 6 weeks were 11.42% with 4 cases and also Gamibaetaugunbitang(加味培土健脾湯) were 28.57% with 10 cases, Gamijeounyongtang(加味正容湯) were 14.28% with 5 cases, Gamibojoongyigitung (加味補中益氣湯), Gamiyinsamyangyoungtung (加味人蔘養榮湯) were 8.57% with 3 cases each other and also Gamisamgitung (加味蔘?湯), Gamisamuloajatung(加味四物五子湯) Gamigoudungum (加味鉤藤飮), etc were applied.

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The effect of rhBMP-2 on the osteoblastic differentiation of human periodontal ligament cells and gingival fibroblasts in vitro (치주인대세포와 치은섬유아세포의 분화에 미치는 rhBMP-2의 효과에 대한 연구)

  • Kim, Hyeon-Jong;Choi, Sang-Mook;Ku, Young;Rhyu, In-Chul;Chung, Chong-Pyoung;Han, Soo-Boo;Lee, Yong-Moo
    • Journal of Periodontal and Implant Science
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    • v.32 no.2
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    • pp.389-402
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    • 2002
  • BMP can induce ectopic bone formation when implanted into sites such as rat muscle and can greatly enhance healing of bony defects when applied exogenously. In addition, BMP stimulated osteoblastic differentiation in vitro in various types of cells. The aim of this study was to investigate the effect of recombinant human bone morphogenetic protein(rhBMP-2) on the proliferation and osteoblastic differentiation of human periodontal ligament cells and gingival fibroblasts. The cell number and alkaline phosphatase activity were measured in 3 experimental groups of human periodontal ligament cells and gingival fibroblasts (control group, rhBMP-2 50ng/ml group, and rhBMP-2 100ng/ml group) at 1 and 2 weeks after culture. At the same time, total RNA of cultured cells were extracted and reverse trascription polymerase chain reaction(RT-PCR) was performed to determine the expression of mRNA of bone matrix protein. RhBMP-2 had no effect on the cell proliferation of human periodontal ligament cells and gingival fibroblasts. Alkaline phosphatase activity was elevated significantly by rhBMP-2 in both cells. And periodontal ligament cells showed significantly higher alkaline phosphatase activity than gingival fibroblasts. ${\beta}$-actin, type I collagen, alkaline phosphatase, BMP-2 mRNA were expressed in all of the samples. Osteopontin, osteocalcin mRNA were expressed in all periodontal ligament cell groups, and rhBMP-2 50ng/ml group, rhBMP-2 100ng/ml group of 2 week culture period of gingival fibroblasts. Bone sialoprotein mRNA was only expressed in rhBMP-2 50ng/ml group and rhBMP-2 100ng/ml group of 2-week culture period. These results suggest that rhBMP-2 stimulates osteoblastic differentiation in human periodontal ligament cells and gingival fibroblasts in vitro.

A Clinical Study of 20 Uterine Sarcomas (자궁육종 20례에 대한 임상적 고찰)

  • Lee, Young-Gi;Park, Yoon-Ki;Lee, Doo-Jin
    • Journal of Yeungnam Medical Science
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    • v.15 no.2
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    • pp.275-285
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    • 1998
  • Sarcoma of the uterus is very rare malignant tumor originating from uterine muscle or connective tissue. We have experienced 20 cases of uterine sarcoma from January 1991 to June 1998. The results were as follows: 1. The pathologic types were 13 cases(65.0%) of leiomyosarcoma, 5 cases(25.0%) of malignant mixed Mullerian tumor, 1 case of rhabdomyosarcoma, and 1 case of angiosarcoma. 2. The average age and parity was 50.2 and 3.7. The chief complaints were irregular vaginal bleeding(35.0%), lower abdominal pain(25.0%), and abdominal mass(25.0%). 3. Nine cases(45.0%) were FIGO stage I, 1 case(5.0%) was stage II, 6 cases(30.0%) were stage III, and 4 cases(20.0%) were stage IV. 4. The survival was from 1.5 months to over 130 months(median 16.5 months), and there was no correlation between survival and FIGO stage or pathologic type. The correlation between survival and number of mitotic figure was incalcurable. 5. CA 125 levels were serially measured as a tumor marker in monitoring patients and the positive rate was 40%. Further study was needed to make a conclusion for usefulness of CA 125 as a tumor marker.

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The Inhibitory Effect of TGF-β1 and OP-1 onto the Myogenic Differentiation (근육세포 분화에 대한 TGF-β1과 OP-1의 억제 효과)

  • Kim, Byung-Gook;Jung, Sung-Su
    • Journal of Oral Medicine and Pain
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    • v.26 no.1
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    • pp.39-50
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    • 2001
  • In order to investigate the effect of Transforming growth factor ${\beta}1$(below TGF-${\beta}1$) and osteogenic protein-1(below Op-1) onto the myogenic differentiation, C2C12 satellite myoblastic cell line was cultured and treated with both growth factors. At first morphological changes with microscopical examination were examined, and isolated total RNA to analyse mRNA expression of bone marker proteins, muscle regulatory proteins, TGF-${\beta}$ receptor and their ligands by Northern blot analysis. And cellular proliferative inducibility of both growth factors was also tested to C2C12 cells. Incubating the cell with $5ng/m{\ell}$ of TGF-${\beta}1$ until 4 days almost inhibited multinucleated myotube formation expressing muscular regulatory proteins, and induced decreasing Id proteins. However, no osteoblastic phenotypes was induced by TGF-${\beta}1$ in C2C12 cells. The mRNA expression of TGF-${\beta}$ receptors with TGF-${\beta}1$ was conversed after 48 hours cultured. Type I TGF-${\beta}$ receptor was seemed to play a role in negative signalling for inhibition of myogenic differentiation. OP-1 dose dependently induced ALP activity, osteopontine production and bone sialoprotein production at concentrations above $100ng/m{\ell}$ and osteocalcin production at concentrations above $300ng/m{\ell}$. The concentration of OP-1 required to induce these osteoblastic phenotypes was the same as that required to almost completely inhibit myotube formation. Incubation with above $100ng/m{\ell}$ OP-1 suppressed the expression of mRNA for muscular egulatory proteins from 2 days after incubation. Expression of Id-1, 2, 3 mRNA were stimulated by OP-1 at concentration above $300ng/m{\ell}$. When C2C12 cells were treated with both growth factors, TGF-${\beta}1$ potentiated the inhibitory effect of OP-1 on myotube formation and expression of mRNA for myogenin at 12 days. And TGF-${\beta}1$ reduced osteocalcin and bone sialoprotein production induced by OP-1 at 12 days in C2C12 cells. Both growth factor had no mitogenic effect. These results indicate that OP-1 converts the differentiation pathway of C2C12 myoblasts into that of osteoblastic lineage cells and it's not heritable, but TGF-${\beta}1$ does not and has reversible inhibitory activity on the myogenic differentiation. TGF-${\beta}1$ and OP-1 play a role in myogenic differentiation via different mechanism between them.

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Liver Protective Effect of the Co-treatment of Rhei Radix et Rhizoma and Silymarin on TAA-induced Liver Injury (대황과 실리마린의 병용투여의 간섬유화 보호 효과)

  • Il-ha Jeong;Sang-woo Ji;Seong-soo Roh
    • The Journal of Internal Korean Medicine
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    • v.44 no.3
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    • pp.402-417
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    • 2023
  • Objective: Liver fibrosis is a highly conserved wound-healing response and the final common pathway of chronic inflammatory injury. This study aimed to evaluate the potential anti-fibrotic effect of the combination of Rhei Radix et Rhizoma water extract (RW) and silymarin in a thioacetamide (TAA)-induced liver fibrosis model. Methods: The liver fibrosis mouse model was established through the intraperitoneal injection of TAA (1 week 100 mg/kg, 2-3 weeks 200 mg/kg, 4-8 weeks 400 mg/kg) three times per week for eight weeks. Animal experiments were conducted in five groups; Normal, Control (TAA-induced liver fibrosis mice), Sily (silymarin 50 mg/kg), RSL (RW 50 mg/kg+silymarin 50 mg/kg), and RSH (RW 100 mg/kg+silymarin 50 mg/kg). Biochemical analyses were measured in serum, including aspartate aminotransferase (AST), alanine aminotransferase (ALT), malondialdehyde (MDA), and ammonia levels. Liver inflammatory cytokines and fibrous biomarkers were measured by Western blot analysis, and liver histopathology was evaluated through tissue staining. Results: A significant decrease in the liver function markers AST and ALT and a reduction in ammonia and total bilirubin were observed in the group treated with RSL and RSH. Measurement of reactive oxygen species and MDA revealed a significant decrease in the RSL and RSH administration group compared to the TAA induction group. The expression of extracellular matrix-related proteins, such as transforming growth factor β1, α-smooth muscle actin, and collagen type I alpha 1, was likewise significantly decreased. All drug-administered groups had increased matrix metalloproteinase-9 but a decreasing tissue inhibitor of matrix metalloproteinase-1. RSL and RSH exerted a significant upregulation of NADPH oxidase 2, p22phox, and p47phox, which are oxidative stress-related factors. Furthermore, pro-inflammatory proteins such as cyclooxygenase 2 and interleukin-1β were markedly suppressed through the inhibition of nuclear factor kappa B activation. Conclusions: The administration of RW and silymarin suppressed the NADPH oxidase factor protein level and showed a tendency to reduce inflammation-related enzymes. These results suggest that the combined administration of RW and silymarin improves acute liver injury induced by TAA.

The Effect of Dangguijakyak-san on Wound Healing (당귀작약산의 창상 회복에 대한 효과)

  • Yun-Jin Lee;Chang-Hoon Woo;Young-Jun Kim;Hyeon-Ji Kim;Hee-Duk An
    • Journal of Korean Medicine Rehabilitation
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    • v.33 no.3
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    • pp.47-65
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    • 2023
  • Objectives We evaluated the wound healing effects of Dangguijakyak-san (DJ) using C57BL/6 mice that were generated open wound. Methods The study was conducted with seven C57BL/6 mice assigned to each group, divided into the normal group, control group, vitamin E group, DJ low-dose group, DJ high-dose group. We measured total polyphenol, flavonoid contents, the size of the wound, liver function, pro-inflammatory cytokine activity in serum, inflammation-related proteins, adhesion molecules and chemokine proteins, collagen-related proteins in skin tissue and histopathological changes by H&E and Masson's staining. Results DJ treatment significantly reduced the area of the wound compared to the control group. Also, inflammatory cytokines were reduced and the expression of anti-inflammatory-related factors (interleukin-4 [IL-4] and IL-10) was significantly increased in the DJ treatment group. We identified that DJ treatment inhibits both pathways of inflammation, the mitogen-activated protein kinases and nuclear factor-κB pathway. Moreover, the protein expressions of Sirt1 (sirtuin 1), MCP-1 (monocyte chemoattractant protein 1), ICAM-1 (intercellular adhesion molecule 1), and VCAM-1 (vascular cell adhesion molecule 1) were decreased by DJ administration. Also, the expression of α-smooth muscle actin and collagen type I alpha 1, collagen-related proteins, that help skin recovery was significantly increased in the DJ treatment group. Histopathologically, a relatively thin epithelial layer could be observed in the DJ administration group, as well as an increase in fibroblasts and collagen fibers. Conclusions These data suggest that DJ treatment is effective in wound healing, suppressing inflammatory proteins, increasing skin repair factors and improving histopathological changes caused by wounds.

Synthesis and Functional Properties of Plastein from the Enzymatic Hydrolysates of Filefish Protein 2. General Properties and IR Spectrum of Plasteins (말쥐치육 단백질의 효소적 가수분해물을 이용한 Plastein의 합성 및 그 물성 2. Plastein의 일반적 성상과 IR Spectrum)

  • KIM Se-Kwon;LEE Eung-Ho
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.20 no.5
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    • pp.431-440
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    • 1987
  • In order to develop a new type of food source for the effective utilization of fish protein, plastein reaction was applied to improve the functional properties of filefish protein. Plasteins were synthesized from a peptic filefish protein hydrolysate by papain, pepsin, $\alpha-chymotrypsin$ and protease(from Streptomyces griceus) under the optimum conditions of previous paper). Also, L-glutamic acid diethylester and L-leucine ethylester were incorporated into plastein during the plastein reaction by papain. And, General composition, yield, molecular weight, amino acid composition, color and IR spectrum of plasteins were measured. The protein, ash and lipid content of the plasteins were $72\~78\%,\;7.4\~11.8\%\;and\;0.3\~0.9\%$ respectively. The yield of plasteins were papain $55.0\%,\;pepsin\;47.6\%,\;\alpha-chymotrypsin\;38.3\%,\;protease\;23.6\%$, glutamic acid-incorporated plastein (Glu-Plastein) $35.0\%$, and leucine-incorporated plastein (Leu-plastein) $45.7\%$. The glutamic acid and leucine content in Glu-plastein and Leu-plastein were $38.7\%,\;41,7\%$, respectively, while the contents in the peptic filefish protein hydrolysate were $16.01\%\;and\;8.16\%$, respectively. The amino acid compositions were similar to that of the original filefish muscle protein. The major molecular weights of the peptic hydrolysate estimated by gel filteration were 2,000 and 310, and those of plasteihs were 21,000 and 4,900 for papain, 24,000 for pepsin, 18,500 for $\alpha-chymotrypsin$ 6,700 for protease, 24,000 for Glu-plastein and 17,000 for Leu-plastein. The structural changes in freeze-dried filefish meat, the FPC and hydrolysate were not observed on the IR spectrum. But plasteins showed amide I band in $1,600\~l,700cm^{-1}$ range and resulted in a strong band in $800\~850\;cm^{-1},\;700\~750\;cm^{-1}\;and\;650\~700\;cm^{-1}$. The amide I band of Glu-plastein was wider than those of other plasteins and had also a small band at $1,440\;cm^{-1}$.

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A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis (당원병과 뮤코다당체침착증이 동시에 발견된 증례 1예)

  • Lee, Ju Young;Shim, Jeong Ok;Yang, Hye Ran;Chang, Ju Young;Shin, Choong Ho;Ko, Jae Sung;Seo, Jeong Kee;Kim, Woo Sun;Kang, Gyeong Hoon;Song, Jeong Han;Kim, Jong Won
    • Clinical and Experimental Pediatrics
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    • v.51 no.6
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    • pp.650-654
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    • 2008
  • Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time.