• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.31-37
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• 2017

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle that causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed-onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed-onset cases are predominantly adolescents or adults, and infantile delayed-onset cases are rare. Severe hyperammonemia in the neonatal period leads to serious brain damage, coma, and death if not treated promptly. Therefore, early diagnosis and acute treatment are crucial. Despite the improvement of treatments, including continuous hemodialysis, ammonia-lowering agents, and a low-protein diet, the overall outcome of severe forms of hyperammonemia often remains disappointing. As the liver is the only organ in which ammonia is converted into urea, liver transplantation has been considered as an elegant and radical alternative therapy to classical dietary and medical therapies. However, liver transplantation has many disadvantages, such as a considerable risk for technical complications and perioperative metabolic derangement, especially in neonates. Additionally, there is a lack of suitable donor organs in most countries. According to recent studies, liver cell transplantation is a therapeutic option and serves as a bridge to liver transplantation. Here, we report a Korean CPS1D patient with novel mutations in CPS1 who was treated by liver cell transplantation after being diagnosed in the neonatal period and showed a good neurodevelopmental outcome at the last follow-up at six months of age.

• Clinical and Experimental Pediatrics
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• v.48 no.1
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• pp.68-74
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• 2005

Purpose : There is growing use of continuous renal replacement therapy(CRRT) for pediatric patients, but reports about the use and outcome of CRRT in children is rare in Korea. We report our experiences of CRRT in critically ill pediatric patients. Methods : We reviewed the medical records of 23 pediatric patients who underwent CRRT at Asan Medical Center between May 2001 and May 2004. We evaluated underlying diseases, clinical features, treatment courses, CRRT modalities and outcomes. Results : Ages ranged from three days to 16 years with a median of five years. Patients weighed 2.4 to 63.9 kg(median 23.0 kg; 10 patients ${\leq}20kg$). The underlying diseases were malignancy(nine cases), multiple organ dysfunction syndrome(five cases), hyperammonemia(four cases), acute renal failure associated with liver failure(three cases), dilated cardiomyopathy(one case) and congenital nephrotic syndrome(one case). Pediatric Risk of Mortality(PRISM) III score was $17.6{\pm}7.6$ and the mean number of failing organs was $3.0{\pm}1.7$. Duration of CRRT was one to 27 days(median : nine days). Eleven patients(47.8%) survived. Chronic renal failure developed in two cases, intracranial hemorrhage in one case, and chylothorax in one case among the survivors. PRISM III score and the number of vasopressor before the start of CRRT was significantly lower in the survivors($12.7{\pm}4.2$ and $0.9{\pm}1.1$) compared with nonsurvivors($22.1{\pm}7.8$ and $2.4{\pm}1.4$)(P<0.05). Conclusion : CRRT driven in venovenous mode is an effective and safe method of renal support for critically-ill infants and children to control fluid balance and metabolic derangement. Survival is affected by PRISM III score and the number of vasopressors at the initiation of CRRT.

• The Journal of Korean Society for Radiation Therapy
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• v.20 no.1
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• pp.11-15
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• 2008

Purpose: The goal of radiation treatment is to deliver a prescribed radiation dose to the target volume accurately while minimizing dose to normal tissues. In this paper, we comparing the dose distribution between three dimensional conformal radiation radiotherapy (3D-CRT) and helical tomotherapy (TOMO) plan for partial breast cancer. Materials and Methods: Twenty patients were included in the study, and plans for two techniques were developed for each patient (left breast:10 patients, right breast:10 patients). For each patient 3D-CRT planning was using pinnacle planning system, inverse plan was made using Tomotherapy Hi-Art system and using the same targets and optimization goals. We comparing the Homogeneity index (HI), Conformity index (CI) and sparing of the organs at risk for dose-volume histogram. Results: Whereas the HI, CI of TOMO was significantly better than the other, 3D-CRT was observed to have significantly poorer HI, CI. The percentage ipsilateral non-PTV breast volume that was delivered 50% of the prescribed dose was 3D-CRT (mean: 40.4%), TOMO (mean: 18.3%). The average ipsilateral lung volume percentage receiving 20% of the PD was 3D-CRT (mean: 4.8%), TOMO (mean: 14.2), concerning the average heart volume receiving 20% and 10% of the PD during treatment of left breast cancer 3D-CRT (mean: 1.6%, 3.0%), TOMO (mean: 9.7%, 26.3%) Conclusion: In summary, 3D-CRT and TOMO techniques were found to have acceptable PTV coverage in our study. However, in TOMO, high conformity to the PTV and effective breast tissue sparing was achieved at the expense of considerable dose exposure to the lung and heart.

• Progress in Medical Physics
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• v.26 no.4
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• pp.208-214
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• 2015

The aim of this study is to investigate the effect of low magnetic field on dose distribution in the partial-breast irradiation (PBI). Eleven patients with an invasive early-stage breast carcinoma were treated prospectively with PBI using 38.5 Gy delivered in 10 fractions using the $ViewRay^{(R)}$ system. For each of the treatment plans, dose distribution was calculated with magnetic field and without magnetic field, and the difference between dose and volume for each organ were evaluated. For planning target volume (PTV), the analysis included the point minimum ($D_{min}$), maximum, mean dose ($D_{mean}$) and volume receiving at least 90% ($V_{90%}$), 95% ($V_{95%}$) and 107% ($V_{107%}$) of the prescribed dose, respectively. For organs at risk (OARs), the ipsilateral lung was analyzed with $D_{mean}$ and the volume receiving 20 Gy ($V_{20\;Gy}$), and the contralateral lung was analyzed with only $D_{mean}$. The heart was analyzed with $D_{mean}$, $D_{max}$, and $V_{20\;Gy}$, and both inner and outer shells were analyzed with the point $D_{min}$, $D_{max}$ and $D_{mean}$, respectively. For PTV, the effect of low magnetic field on dose distribution showed a difference of up to 2% for volume change and 4 Gy for dose. In OARs analysis, the significant effect of the magnetic field was not observed. Despite small deviation values, the average difference of mean dose values showed significant difference (p<0.001), but there was no difference of point minimum dose values in both sehll structures. The largest deviation for the average difference of $D_{max}$ in the outer shell structure was $5.0{\pm}10.5Gy$ (p=0.148). The effect of low magnetic field of 0.35 T on dose deposition by a Co-60 beam was not significantly observed within the body for PBI IMRT plans. The dose deposition was only appreciable outside the body, where a dose build-up due to contaminated electrons generated in the treatment head and scattered electrons formed near the body surface.

• Progress in Medical Physics
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• v.19 no.2
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• pp.89-94
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• 2008

TomoTherapy has a merit to treat cancer with Intensity modulated radiation and combines precise 3-D imaging from computerized tomography (CT scanning) with highly targeted radiation beams and rotating beamlets. In this paper, we comparing the dose distribution between TomoTherapy and linear accelerator based intensity modulated radiotherapy (IMRT) for 10 Head & Neck patients using TomoTherapy which is newly installed and operated at National Cancer Center since Sept. 2006. Furthermore, we estimate how the homogeneity and Normal Tissue Complication Probability (NTCP) are changed by motion of target. Inverse planning was carried out using CadPlan planning system (CadPlan R.6.4.7, Varian Medical System Inc. 3100 Hansen Way, Palo Alto, CA 94304-1129, USA). For each patient, an inverse IMRT plan was also made using TomoTherapy Hi-Art System (Hi-Art2_2_4 2.2.4.15, TomoTherapy Incorporated, 1240 Deming Way, Madson, WI 53717-1954, USA) and using the same targets and optimization goals. All TomoTherapy plans compared favorably with the IMRT plans regarding sparing of the organs at risk and keeping an equivalent target dose homogeneity. Our results suggest that TomoTherapy is able to reduce the normal tissue complication probability (NTCP) further, keeping a similar target dose homogeneity.

• Korean Journal of Microbiology
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• v.46 no.1
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• pp.15-20
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• 2010

Xenotransplantation of pig organs is complicated by the existence of polytropic replication-competent porcine endogenous retroviruses (PERV) capable of infecting human cells. Two classes of infectious human-tropic replication-competent PERVs (PERV-A and PERV-B) and one class of ecotropic PERV-C are known. The potential for recombination between ecotropic PERV-C and human-tropic PERVs adds another level of infectious risk. A recombinant PERV-A/C (PERV-A14/220) virus is 500-fold more infectious than PERV-A. Two determinants of this high infectivity was identified; one was isoleucine-to-valine substitution at position 140 in RBD (receptor binding domain), and the other lies within the PRR (proline rich region) of the envelope protein. To examine whether the effects of the cytoplasmic tail of the PERV-C Env on fusogenesity also influences infectivity, we constructed a pseudotype retroviral vectors containing MoMLV core protein and PERV envelopes. Pseudotyping experiments with the PERV envelope glycoproteins indicated that recombinant PERV-A/C virus is 10-fold more infectious than PERV-A by lacZ staining. This result supports the suggestion that viral transduction of PERV-A/C is enhanced by a membrane-proximal cytoplasmic amphiphilic ${\alpha}$-helix in PERV-C Env tail.

• Journal of Gastric Cancer
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• v.8 no.3
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• pp.129-135
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• 2008

Purpose: The usefulness of serum tumor markers for assessing gastric carcinoma is very limited compared to that for neoplasms in other digestive organs. Many reports have shown that serum tumor markers are closely associated with the prognosis and tumor recurrence in gastric cancer patients. However, little is known about the usefulness of serum tumor markers as a predictor of distant metastasis for gastric carcinoma. Materials and Methods: With excluding the non-specific causes of elevated tumor markers, a total of 788 patients with gastric carcinoma and who were seen at our hospitals between 2004 and 2006 were included in this study. The correlation between the preoperative level of tumor makers and the clinicopathological features was analyzed. Results: CEA was significantly correlated with age, gender and nodal metastasis, but not with the depth of tumor. The CEA level was not correlated with distant metastasis, such as peritoneal or hematogenous metastasis. In contrast, the CA 19-9 level was significantly correlated not only with the depth of tumor and nodal metastasis, but also with peritoneal metastasis. Especially, the patients with over 500% elevation of the CA 19-9 level had a significant risk of peritoneal metastasis. Conclusion: CA 19-9 is useful for predicting peritoneal metastasis in gastric cancer patients. It can be used efficiently in making the diagnostic and the treatment plan, in combination with other diagnostic tools, for gastric cancer patients.

• Journal of the Korean Chemical Society
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• v.51 no.6
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• pp.536-542
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• 2007

Behcet's disease (BD) is a chronic inflammatory disorder, involving several organs. Inflammation in the disease is thought to be mediated by cytokines derived from T-helper type 1 (Th1) lymphocytes. Although the exact pathogenesis for BD is not completely understood, it has been suggested that the disease is triggered in genetically susceptible individuals by environmental factors, such as microbial agents. It is noted that multiple genes, including MHC (major histocompatibility complex) and non-MHC genes, are implicated in the pathogenesis of BD. This study tries to determine whether HLA-B51, IL-18, SLC11A1 and TNF-α polymorphisms are associated with susceptibility to Behcet's disease in Koreans. As a results, HLA-B51 was a genetic factor with the strongest association with BD. But it is still uncertain whether this HLA molecule is directly involved in the pathogenesis of BD. Although the IL-18 gene polymorphisms were not associated with a susceptibility to BD in the Korean population, the patients carrying the GG genotype at position 137 had a higher risk of developing the ocular lesions. This study suggests that the allele 3 and the genotype allele 3 / allele 3 of 5'-promoter (GT)n polymorphism in the SLC11A1 gene may have a protective effect for the development of BD in the Korean population. There were no evidences for genetic association conferred by the TNF-α gene with respect to susceptibility to BD.

• Progress in Medical Physics
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• v.25 no.4
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• pp.210-217
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• 2014

This study investigated the dosimetric effects of different dose calculation algorithm for lung stereotactic ablative radiotherapy (SABR) using flattening filter-free (FFF) beams. A total of 10 patients with lung cancer who were treated with SABR were evaluated. All treatment plans were created using an Acuros XB (AXB) of an Eclipse treatment planning system. An additional plans for comparison of different alagorithm recalcuated with anisotropic analytic algorithm (AAA) algorithm. To address both algorithms, the cumulative dose-volume histogram (DVH) was analyzed for the planning target volume (PTV) and organs at risk (OARs). Technical parameters, such as the computation times and total monitor units (MUs), were also evaluated. A comparison analysis of DVHs from these plans revealed the PTV for AXB estimated a higher maximum dose (5.2%) and lower minimum dose (4.2%) than that of the AAA. The highest dose difference observed 7.06% for the PTV $V_{105%}$. The maximum dose to the lung was also slightly larger in the AXB plans. The percentate volumes of the ipsilateral lung ($V_5$, $V_{10}$, $V_{20}$) receiving 5, 10, and 20 Gy were also larger in AXB plans than for AAA plans. However, these parameters were comparable between both AAA and AXB plans for the contralateral lung. The differences of the maximum dose for the spinal cord and heart were also small. The computation time of AXB plans was 13.7% shorter than that of AAA plans. The average MUs were 3.47% larger for AXB plans than for AAA plans. The results of this study suggest that AXB algorithm can provide advantages such as accurate dose calculations and reduced computation time in lung SABR plan using FFF beams, especially for volumetric modulated arc therapy technique.

• Progress in Medical Physics
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• v.25 no.4
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• pp.199-204
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• 2014

The purpose of this study is to evaluate the dosimetric outcome of the field-in-field (FIF) plans compared with tangential wedged beams (TWB) plans for whole breast irradiation of breast cancer patients. Twenty patients with right-sided breast cancer and 10 patients with left-sided breast cancer were retrospectively enrolled in this study. We generated a FIF plan and a TWB plan for each patient to compare dosimetric outcomes. The dose the homogeneity index (HI), the conformity index (CI) and the uniformity index (UI) were defined and used for comparison of the dosimetric outcome of the planning target volume (PTV). To compare the dosimetric outcome of the organs at risk, the mean dose ($D_{mean}$) and the percentage of volumes receiving more than 10, 20 and 30 Gy of the ipsilateral lung and heart were used. The FIF plans had significantly lower HI (p=0.002), higher UI (p=0.000) and CI (p=0.000) than those of the TWB plans, which means that the FIF plans were better than the TWB plans in the dosimetric comparisons of the PTV. The $V10_{lung}$ ($17.1{\pm}7.1$ vs. $18.6{\pm}6.6%$, p=0.020) and $V30_{lung}$ ($10.3{\pm}5.1%$ vs. $10.7{\pm}5.2%$, p=0.000) were lower with the FIF plans compared with those of the TWB plans, with statistical significance. For the left-sided breast cancer patients, $D_{mean}$ of the heart ($2.6{\pm}1.3$ vs. $3.2{\pm}1.4$ Gy, p=0.000), $V20_{heart}$ ($3.4{\pm}2.6$ vs. $3.6{\pm}2.8%$, p=0.005) and $V30_{heart}$ ($2.6{\pm}2.3%$ vs. $2.9{\pm}2.4%$, p=0.004) were significantly lower for the FIF plans in comparison with those of the TWB plans. The FIF plans increased the dose homogeneity, conformity and uniformity of the target volume for the whole-breast irradiation compared with the TWB plans. Moreover, FIF plans reduced the doses to the ipsilateral lung and heart.