Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.
Babu, Anam Giridhar;Kim, Sang Woo;Yadav, Dil Raj;Hyum, Umyong;Adhikari, Mahesh;Lee, Youn Su
Mycobiology
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제43권1호
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pp.49-56
/
2015
The present study is the first report on the isolation of Penicillium menonorum from rhizosphere soil in Korea and its identification based on morphological characteristics and internal transcribed spacer gene sequence. The fungal isolate was named KNU-3 and was found to exhibit plant growth-promoting (PGP) activity through indole acetic acid (IAA) and siderophore production, as well as P solubilization. KNU-3 produced 9.7 mg/L IAA and solubilized 408 mg of $Ca_3PO_4/L$, and inoculation with the isolate significantly (p < 0.05) increased the dry biomass of cucumber roots (57%) and shoots (52%). Chlorophyll, starch, protein, and P contents were increased by 16%, 45%, 22%, and 14%, respectively, compared to plants grown in uninoculated soil. The fungus also increased soil dehydrogenase (30%) and acid phosphatase (19%) activities. These results demonstrate that the isolate KNU-3 has potential PGP attributes, and therefore it can be considered as a new fungus to enhance soil fertility and promote plant growth. Moreover, the discovery of PGP ability and traits of this fungus will open new aspects of research and investigations. In this study, plant growth promotion by P. menonorum KNU-3 is reported for the first time in Korea after its original description.
Recent study on the enamel matrix derivatives explained on the effects of new bone and new attachment formation in infrabony pocket of periodontal defects. The purpose of this study was to investigate on the biological effects of enamel matrix derivatives to attachment, proliferation and activation of periodontal ligament and osteoblast cells, After treatment of osteoblast and PDL cells with various Emdogain concentration level(0.03${\mu}g$/ml, 3${\mu}g$/ml, 300${\mu}g$/ml), activation of osteogenetic factor, calcified nodule formation and measuring alkaline phosphatase activity(ALP) were performed. 1. Both osteoblast and PDL cell showed increasing initial cell attachment with 300${\mu}g$/ml Emdogain concentration. 2. At the level of 300${\mu}g$/ml, accelerated proliferation of oseoblast and PDL cell was appeared. 3. As Emdogain's concentration increased, increased ALP activation of osteoblast was shown. In case of PDL cell, Emdogain increased ALP activation prominently at the level of 300${\mu}g$/ml. 4. No statistically significant activating change were founded at all of the concentrations of Emdogain on the activating of transcript factor Runx2 for differentiating osteoblast. 5. At the level of 300${\mu}g$/ml, calcified nodule formation was increased prominently to compare with other concentration. These results indicated that Emdogain should activate initial attachment, proliferation and activation, but not on Runx2 activation and can be used for useful tool of the treatment of periodontal tissue regeneration.
Helicobacter pylori (H. pylori) infects more than half of the people in the world as a major microbe to cause most of gastric diseases. Recently, cytotoxin associated-antigen A (CagA) is believed as one of the most important virulence factors of H. pylori. Molecular toxicological pathway of CagA is necessary to investigate for understanding the pathological and toxicological aspects of H. pylori, since this virulence protein harasses intercellular processes of host cells to get profit for the survival of H. pylori. CagA is coded from cag pathogenicity island (cag PAI) and translocated into host cells by Type 4 secretion system (TFSS). Tyrosine phosphorylation of CagA targets Src homology 2-containing phosphotyrosine phosphatase (SHP-2) to form a CagA-SHP-2 complex. This complex depends on the similarity of sequence between EPIYA motif and Src homology 2 domain (SH2 domain) of CagA. The generation of growth factors is an essential role of CagA in protecting and healing gastric mucosa for the survival of H. pylori. On the other hand, the activation of IL-8 by CagA induces neutrophils generating inflammation and free radicals. Indeed, free radicals are well known carcinogen to induce DNA damage. In addition, the transduction of mitogen-activation signal by CagA is one of the interesting features to understand how to cause cancer. The relationship between cancer and inflammation with CagA was mainly discussed in this review.
Salari, Somayyeh;Nassiri Moghaddam, H.;Arshami, J.;Golian, A.
Asian-Australasian Journal of Animal Sciences
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제22권4호
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pp.557-564
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2009
Two experiments were conducted to evaluate the use of various levels of full-fat sunflower seeds (FFSS) on broiler performance and carcass characteristics. In the first experiment, FFSS was included in a basal diet at 70, 140, and 210 g/kg and the $AME_n$ values of the experimental diets were determined. The linear regression equation of $AME_n$ values on rate of inclusion was calculated. Extrapolation value for the $AME_n$ of FFSS at 100% inclusion was 14.22 MJ/kg. In the second experiment, diets containing various levels (0, 70, 140, and 210 g/kg) of FFSS were given to broilers (Ross strain) from 0 to 49 d. At 28 days of age, blood parameters and digestive enzyme activities were determined and carcass parameters were evaluated at 49 days of age. Weight gain, feed intake and feed conversion ratio (FCR) were improved (p<0.05) when broilers were fed various levels of FFSS in the starter and finisher diets. Breast, thigh, gastrointestinal tract and gizzard weight percentages were not affected by dietary treatments; however, liver weight percentage was decreased significantly (p<0.05) and weight of abdominal fat decreased but this effect was not significant. The activities of digestive enzyme (protease and ${\alpha}$-amylase) were not influenced by the treatments. Activity of alkaline phosphatase, concentrations of calcium, phosphorus, glucose, triglyceride, protein, high density lipoprotein (HDL) and low density lipoprotein (LDL) were not affected by incorporation of FFSS in the broiler diet. Although concentration of HDL increased and LDL decreased, these effects were not significant. The results of this study indicate that FFSS can be used at up to 21% in broiler diets without adverse effects on performance or other parameters of chickens.
Kim, Seong-Gon;Jeong, Jae-Hwan;Che, Xiangguo;Park, Yong-Tae;Lee, Sang-Woon;Jung, Eun-Sun;Choe, Senyon;Choi, Je-Yong
BMB Reports
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제46권6호
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pp.328-333
/
2013
Many bioactive molecules like recombinant human bone morphogenetic protein 2 (rhBMP-2) have been developed for mineralized bone grafts, for which proper scaffolds are necessary to successfully apply the bioactive molecules. In this study, we tested the osteogenic efficacy of rhBMP-2 produced in-house in combination with gelatin sponge as the scaffold carrier in a rabbit radial defect model. The efficacy of the rhBMP-2 was determined by alkaline phosphatase activity assay of C2C12 cells. Two groups of ten rabbits each were treated with rhBMP-2/gelatin sponge, or gelatin sponge only. At 4 weeks, rhBMP-2/gelatin sponge grafts showed more bone regeneration than gelatin sponge grafts, as determined by X-ray radiography, micro-computed tomography, and histological analyses. At 8 weeks, rhBMP-2/gelatin sponge grafts exerted much stronger osteogenic effects. The study demonstrates the improved osteogenic efficacy of the rhBMP-2/gelatin sponge grafts in a rabbit radial bone defect model acting as a bone-inductive material.
Alveolar bone destruction is a character-istic of periodontal disease. Treponema denticola are found in significantly increased numbers in the sites affected with periodontal disease. In order to clarify the role of T. denticola in destruction of alveo-lar bone in periodontal disease, this study was undertaken to determine the effect of sonicated extract of T. denticola on osteo-clast differentiation in co-culture system of mouse bone marrow cells and calvaria cells. The ability of osteoclast formation was estimated by counting the number of tar-tartrate resistant acid phosphatase(TRAP) positive cells. Sonicated extract of this bacteria stimulated osteoclast formation in a dose dependent manner(p<0.05). Indomathacin, an inhibitor of prostaglandin synthesis, decreased osteoclast formation induced by sonicated extract of this bacte-bacteria(p<0.05). Extract-induced osteoclast formation was decreased, when sonicated extract of bacteria was heated(p<0.05). These findings suggest that T. denticola induces osteoclast differentiation, and protein component of this bacteria and $PGE_2$ may play an important role in this process.
Nama Ryu;Lim, Soon-Sung;Jung, Sang-Hoon;Cho, Sae-Yun;Shin, Kuk-Hyun
한국응용약물학회:학술대회논문집
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한국응용약물학회 1998년도 Proceedings of UNESCO-internetwork Cooperative Regional Seminar and Workshop on Bioassay Guided Isolation of Bioactive Substances from Natural Products and Microbial Products
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pp.185-185
/
1998
As part of our continuing attempts to evaluate biologically active compounds from fruiting bodies of cultivated fungus of Paecilomyces japonicus Yasuda, we conducted series of experiments on various fractions and compounds isolated by systematic fractionations. Our main efforts were concentrated on searching for compounds showing antitumor activities, which were tested on mice carrying Sarcoma-180 ascitic tumor. The antitumor activity was assessed by the life spans after these mice were administered Lp. with test compounds for consecutive 20 days. One of two pure compounds, which we have isolated to date, demonstrated significant prolongation of life span. ( Mean Survival Time: 30.3 days compared to that of control: 23.6 days). Structural analysis showed that this compound corresponds to D-mannitol. On the other hand, Ergosterol, another isolated pure compound didn't show efficient antitumor activity. We also obtained water-soluble fractions containing protein-bound polysaccharides and n-butantol fractions, which showed strong antitumor activities, 35.4(150%) and 32.1(136.0%) days of MST, respectively. In SRB assay, however, the test materials didn't show any toxic effects, but the level of acid phosphatase increased significantly when they were applied in cultured macrophage in vitro. Therefore, we concluded that antitumour activities might be attributed to immunostimulating rather than cytotoxic effects. Further experiments are underway to purify and structurally characterize new antitumour compounds from the active fractions.
The present study was devised to determine the effects of body weight, organ weight, hematological values and biochemical parameters by vitamin E and selenium (Selevit) on the Orch rats. The animals were divided into 4 groups. Intact group (n=10) received no treatment and operation. Sham group (n=10) received only sham operation and no treatment. Orch group received operation and no treatment. Orch+Selevit received operation and Selevit. The body weights of each group increased, but that of the Orch+Selevit group were significantly lower than those of all the other groups. There were significant differences (P<0.001) of body weights between Orch+Selevit group and all the other groups. Also, organ weights such as heart, liver, spleen and kidney were measured. The heart weights were significantly lower (P<0.001) in the Orch+Selevit group than in Intact and Sham group. The liver weights in the Orch+Selevit group were significantly differences (P<0.001) in comparison with those in the Intact and Sham groups. The kidney weights in the Orch+Selevit group were significantly differences (P<0.01, P<0.001) in comparison with those in all the other groups. On the other hand, there were no significantly differences in the organ weights of spleen between the Orch+Selevit groups and the any other groups. The number of white blood cell (WBC) was significantly higher (P<0.05) in the Orch+Selevit group than in all the other groups. The hematological values of red blood cell (RBC), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC) were not significantly different in any of the groups. The concentrations of serum total protein, albumin and alkaline phosphatase increased significantly (P<0.05, P<0.01) in the Orch+Selevit group as compared to that in the Orch group. However, there were no significant differences in AST and ALT in any other groups. We conclude that Selevit was significantly decreased the body weight in the orchidectomized rats. Our findings suggest that Selevit may influence the process of lipid packaging and absorption in the orchidectomized rats.
This study was performed to obtain an accurate methods of diagnosis in early stage of traumatic pericarditis and myocarditis in ruminants. Korean native goats were used as experimental animal and traumatic pericarditis and myocarditis were induced by surgical intervention. The changes in clinical signs, hematological values, blood enzymes and electrocardigrams were observed for 14 days after operation. The results obtained were as follows: 1. Body temperature in experimental group of induced traumatic pericarditis and myocarditis was slightly increased than control group that was rumenotomized. Heart rate was increased in both groups but the increased rate was noticed remarkably in experimental group. There was no change in respiratory rate in experimental and control group. 2. Total leucocytes counts and neutrophil percentage maintained higher level after operation and lymphocytes percentage noticed reversed proportion to neutrophil in both groups. 3. Serum total protein concentration and alkaline phosphatase activities after operation showed a little lower levels than these values prior to operation. Serum glutamic oxaloacetic transaminase and lactic dehydrogenase activities in control group showed slight increase through all the experimental period, while in experimental group these activities were markedly elevated and an increase in serum lactic dehydrogenase activities was more remarkable comparing to serum glutamic oxaloacetic transaminase. 4. Electrocardiograms in control group did not show any abnormalities except for slight increase in heart rate. In experimental group the amplitude of QRS complex was increased in duration of experimental period. The transference from QRS complex to T wave was uncertain and S-T segment moved upward obliquely through electrical zero line.
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