Journal of The Korean Society of Inherited Metabolic disease
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v.16
no.1
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pp.34-41
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2016
Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.
One hundred forty-four patients underwent operation for coarctation of the aorta at Seoul National University Children's Hospital between June 1986 and Decembsr 1995. Age ranged 0.1 to 191 months. Of these 78.5%(113) were infants. We classified the patients in terms of the anatomic location of coarctatiln and the associatCd anomalies(I[401= primary coarctation, 11(741=isthmic hypoplasia, lIIf30)=tubular hypoplasia involving transverse arch, Ar63 =with ventricular septal defect, B(28)=with other major cardiac defects). Subcalvian flap coarctoplasty(60), resection & anastomosis(44), extended aortoplasty(26), and onlay patch(14) were used as surgical methods. Overall operative mortality was 16.0(23/144)%. The hospital mortality was signific'antly higher in patheints with type 111, subtype B, younger age(under 3 months), extended aortoplasty(p(0.01). However, one-stage total repair in patients with subtype A or B were not found to be a predictor of hospital death. Restenosis had occured in 18 patients among 121 survivals(14. 9%). The mean follow-up period was 29.1 $\pm$28.8(0~129.2) months. Preoperative, immediate postoperative(within 3 months after operation) and postoperative(later than 6 months after operation) echocardiographic data on the dimensions of ascending aorta(AA), transverse arch(TA), an4 aortic isthmus(Al) were available in 77 patients(I=20, ll=42, 111= 15). Preoperative and postoperative aortic isthmus(All) and tra sverse arch indices(TAI), defined as TAIAA & AIIAA respectively, were compared. Immediate postoperative All in type 1, II and TAI in type 111 were significantly smaller in stenotic than non-stenotic group suggesting incomplete relieves of stenotic segment Younger age, subclavian coarctoplasty in patient under 3 months of age were round to be the risk factors for restenosis in this series. In conclusion, We found that aortic arch index and transverse arch index can be a useful tool to figure out the anatomic and clinical characteristics of the patients with aortic coarctation, and that anatomy, associated anomalies, age, and surgical methods may influence the surgical outcome of the coarctation repair.
Kim Soo-Youn;Choi Gang Guk;Park Youn Il;Park Young Mok;Yang Young Ki;Rhee Young Ha
Korean Journal of Microbiology
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v.41
no.1
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pp.67-73
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2005
Photoautotrophic bacteria are promising candidates for the production of poly(3-hydroxybutyrate) (PHB) since they can address the critical problem of substrate costs. In this study, we isolated 25 Tn5-inserted mutants of the Synechocystis sp. PCC 6803 which showed enhanced PHB accumulation compared to the wild-type strain. After 5-days cultivation under nitrogen-limited mixotrophic conditions, the intracellular levels of PHB content in these mutants reached up to $10-30\%$ of dry cell weight (DCW) comparable to $4\%$ of DCW in the wild-type strain. Using the method of inverse PCR, the affected genes of the mutants were mapped on the completely known genome sequence of Synechocystis sp. PCC 6803. As a result, the increased PHB accumulation in 5 mutants were found to be resulted from defects of genes coding for NADH-ubiquinone oxidoreductase, O-succinylbenzoic-CoA ligase, photosystem II PsbT protein or histidine kinase, which are involved in photosystem in thylakoid inner membrane of the cell. The values of $NAD(P)H/NAD(P)^+$ ratio in the cells of these mutants were much higher than that of the wild-type strain as measured by using pulse-amplitude modulated fluorometer, suggesting that PHB synthesis could be enhanced by increasing the level of cellular NAD(P)H which is a limiting substrate for NADPH-dependent acetoacetyl-CoA reductase. From these results, it is likely that NAD(P)H would be a limiting factor for PHB synthesis in Synechocystis sp. PCC 6803.
Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.
Seo, Choong-Won;Yu, Young-Bin;Shin, Kyeong Seob;Kim, Young-Kwon
Journal of Digital Convergence
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v.12
no.9
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pp.237-244
/
2014
Pathogenic fungal infections are predominantly occurred in patients with severe immune or metabolic defects. In the present study, we aimed to investigate the last five years (2007~2011) 190,250 cases clinical specimens of yeast 3,487 results that had shown positive culture and to look at the significance of regional difference and identify relationship between provide the characteristics about association between clinical isolates and gender, age, and type of specimens. The yearly strain-specific isolation frequency of yeast separated was 1,925(55.2%) for C. albicans the largest of them. All kinds of clinical specimen was 1,495(42.9%) in urine, 998(28.6%) in sputum. Strain-specific gender differences in C. albicans for males was 1,177(57.8%) of the total of 2,037 and 748(51.6%) of 1,450 and as for age, those between 70 and 79 were the largest with 639(55.1%) of the 1,925 strain. In this study, well presented the general characteristics of pathogenic yeast seen in diverse specimens. This limitation has been implemented in a single area, Future research is expected to examine more on nationwide distribution chart, dynamic characteristics and future antibiotic sensitivity.
Kim, Min-Kyoo;Kim, Sung-Hun;Lee, Jai-Bong;Han, Jung-Suk;Yeo, In-Sung;Ha, Seung-Ryong
The Journal of Korean Academy of Prosthodontics
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v.52
no.4
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pp.317-323
/
2014
Dentinogenesis Imperfecta, with a high incidence rate of 1 : 6 - 8000, is inherited by autosomal dominant genetic transmission. This dental disorder causes discoloration of the teeth and the enamel and dentin show hypoplastic or hypocalcified defects which lead to frequent fractures and rapid attrition. Therefore, timely treatment is necessary for the preservation of the remaining teeth. In this particular case, a 19-year-old patient suffering from Type 1 dentinogenesis imperfecta showed signs of brownish hued teeth with multiple fractures, a loss of vertical dimension, excessive interdental space in the maxillary anterior teeth, and a lack of 5 posterior teeth. To improve the esthetic appearance of the anterior teeth, the vertical dimension was increased. Resin caps were used to alleviate the difficulty of taking an impression of multiple teeth at once. Monolithic zirconia materials used in this case showed high fracture strength and the ability to mask the discoloration of the teeth and therefore, functionally and esthetically favorable results were achieved.
Purpose: The purpose of this study was to investigate the effects of the immunosuppressants FK506 and cyclosporin A (CsA) on the osteogenic differentiation of rat mesenchymal stem cells (MSCs). Methods: The effect of FK506 and CsA on rat MSCs was assessed in vitro. The MTT assay was used to determine the deleterious effect of immunosuppressants on stem cell proliferation at 1, 3, and 7 days. Alkaline phosphatase (ALP) activity was analyzed on days 3, 7, and 14. Alizarin red S staining was done on day 21 to check mineralization nodule formation. Real-time polymerase chain reaction (RT-PCR) was also performed to detect the expressions of bone tissue-specific genes on days 1 and 7. Results: Cell proliferation was promoted more in the FK506 groups than the control or CsA groups on days 3 and 7. The FK506 groups showed increased ALP activity compared to the other groups during the experimental period. The ALP activity of the CsA groups did not differ from the control group in any of the assessments. Mineralization nodule formation was most prominent in the FK506 groups at 21 days. RT-PCR results of the FK506 groups showed that several bone-related genes-osteopontin, osteonectin, and type I collagen (Col-I)-were expressed more than the control in the beginning, but the intensity of expression decreased over time. Runx2 and Dlx5 gene expression were up-regulated on day 7. The effects of 50 nM CsA on osteonectin and Col-I were similar to those of the FK506 groups, but in the 500 nM CsA group, most of the genes were less expressed compared to the control. Conclusions: These results suggest that FK506 enhances the osteoblastic differentiation of rat MSCs. Therefore, FK506 might have a beneficial effect on bone regeneration when immunosuppressants are needed in xenogenic or allogenic stem cell transplantation to treat bone defects.
Kim Min-Kyu;Lim Hyung-Gyu;Han Chan-Ho;Song Byung-Seop;Park Il-Yong;Cho Jin-Ho
The Journal of the Acoustical Society of Korea
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v.24
no.7
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pp.379-386
/
2005
Among various kinds of hearing aids which have been developed so far. the conventional air conduction hearing aids have some problems such as the acoustic distortion, an howling effect due to acoustic feedback. Another type of hearing aid. the cochlear implant system can be applied to the profound imparied person. However. it shows the disadvantage that there is no possibility of recovery of the acoustic organ such as ossicle. On the other hand. the implantable middle ear heaving device directly vibratos the ossicular chain and has better sound qualify. good cosmetics for appearance. and wide frequency responses so that it can overcome the defects or the conventional hearing aids. In this paper, a mathematical modeling and a momentum equation derivation of the DET has been performed. For the optimization of the structure dimension generating maximal vibrating force of the DET. the computer simulation using a finite element analysis (FEA) software has been performed. Also. the vibrating transducer has been designed to make the frequency characteristics or the transducer be similar to those of the normal middle ear. Through the experimental results, the measured vibration characteristics of the DET has been evaluated to verify the performance for the application to implantable middle ear hearing devices.
During the compression molding process of the continuous fiber-reinforced polymeric composites, two main problems such as fiber-matrix separation and fiber orientation are produced by the difference of flow velocity. Molded parts are lead to be nonhomogeneous and anisotropic. As the mechanical property of the products are dependent on the separation and orientation, it is important to research the fiber mat structure and molding condition. If the fiber mat structure is changed by the increment of needling, the separation decreases and after compression molding the orientation is easily aligned. As it were, the compression moldability is good. But the defects as tears, thin thickness are produced in the products. Therefore, it is important to clarify the moldability in relation to the usage of products and the expenses of produce on the actual process. Therefore we must make the measurement methods that can define the moldability of products. In this research, the effects of the fiber mat structure(NP = 0, 5, 10, 25, 50 punches/$cm^2$) and the mold geometry($r_p$ = 1, 25, 50 mm) on the moldability of products were discussed. We investigated the case of one-dimensional flow in order to obtain the degree of nonhomogeneity and the fiber orientation function. In result, we could gain the correlation coefficient of the continuous fiber-reinforced polymeric composites. Also we experimented on the cup-type compression molding which was appeared the wrinkle on the flange part by the complex stress condition in order to gain the degree of nonhomogeneity and area ratio. In result, the moldability of products was expressed as the correlation coefficient and area ratio.
Dlx3 is a homeodomain protein and is known to playa role in development and differentiation of many tissues. Deletion of four base pairs in DLX3 (NT3198) is causally related to tricho-dento-osseous (TDO) syndrome (OMIM # 190320), a genetic disorder manifested by taurodontism, hair abnormalities, and increased bone density in the cranium. Although the observed defects of TDO syndrome involves bone, little is known about the role of Dlx3 in bone remodeling process. In this study, we examined the effect of wild type DLX3 (wtDlx3) expression on osteoclast differentiation and compared it with that of 4-BP DEL DLX3 (TDO mtDlx3). To examine whether Dlx3 is expressed during RANKL-induced osteoclast differentiation, RAW264.7 cells were cultured in the presence of receptor activator of nuclear factor-B ligand (RANKL). Dlx3 protein level increased slightly after RANKL treatment for 1 day and peaked when the fusion of prefusion osteoclasts actively progressed. When wtDlx3 and TDO mtDlx3 were overexpressed in RAW264.7 cells, they enhanced RANKL-induced osteoclastogenesis and the expression of osteoclast differentiation marker genes such as calcitonin receptor, vitronectin receptor and cathepsin K. Since osteoclast differentiation is critically regulated by the balance between RANKL and osteoprotegerin (OPG), we examined the effect of Dlx3 overexpression on expression of RANKL and OPG in C2C12 cells in the presence of bone morphogenetic protein 2. Overexpression of wtDlx3 enhanced RANKL mRNA expression while slightly suppressed OPG expression. However, TDO mtDlx3 did not exert significant effects. This result suggests that inability of TDO mtDlx3 to regulate expression of RANKL and OPG may contribute to increased bone density in TDO syndrome patients. Taken together, it is suggested that Dlx3 playa role as a positive regulator of osteoclast differentiation via up-regulation of osteoclast differentiation-associated genes in osteoclasts, as well as via increasing the ratio of RANKL to OPG in osteoblastic cells.
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