• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.103-108
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• 2017

Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

• Radiation Oncology Journal
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• v.23 no.1
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• pp.1-8
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• 2005

Purpose : The objective of this study was to determine whether the expressions of the two components of DNA-dependent protein kinase, Ku70 and DNA-PKcs, influence the response to radiotherapy (RT) and outcome of treatment of non-disseminated nasopharyngeal carcinoma (NPC) in patients who received definitive RT. Materials and Methods : Sixty-six patients with NPC who were treated with radiotherapy alone or with concurrent chemotherapy between June 1995 and December 2001 were divided into groups based on the levels of immunoreactivity for Ku70 and DNA-PKcs in pretreatment biopsy specimens. The over-expression of Ku70 or DNA-PKcs groups Included patients whose biopsy specimens showed at least 50% immunopositive tumor cells; patients in which less than 50% of the tumor cells in the biopsy tissues were immunopositive were placed in the low Ku70 and DNA-PKcs groups. The immunoreactivities for Ku70 and DNA-PKcs were retrospectively compared with the sensitivity of the tumor to radiation and the patterns of therapy failure. Univariate analyses were peformed to determine the prognostic factors that influenced locoregional control of NPC. Results : The five-year locoregional control rate was significantly higher in the low Ku70 group (Ku(-)) (85%) than in the high Ku70 group (Ku(+)) (42%) (p=0.0042). However, there were no differences in the metastases-free survival rates between the two groups (Ku70 (+), 82%; Ku70 (-), 78%; p=0.8672). Univariate analysis indicated that the over-expression of Ku70 surpassed other well-known predictive clinocopathologic parameters as an Independent prognostic factor for locoregionai control. Eighteen of 22 patients who had locoregional recurrences of the tumor displayed an over-expression of Ku70. No significant association was found between the level of DNA-PKcs expression and the clinical outcome. Conclusion : Our data suggest that the level of Ku70 expression can be used as a molecular marker to predict the response to RT and the locoregional control after RT and concurrent chemotherapy in patients with non-disseminated NPC.

• Journal of Biomedical Engineering Research
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• v.19 no.1
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• pp.69-80
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• 1998

This research was designed to investigate how the exercise program affects paraplegic standing and walking employing functional electrical stimulation(FES). Emphasis was also given to fatigue of major lower extremity muscles induced by different types of electrical stimulation. We applied continuous and intermittent rectangular pulse trains to quadriceps of 10 normal subjects and 4 complete paraplegic patients. The frequencies were 20Hz and 80Hz, and the knee angle was fixed at 90$^{\circ}$and 150$^{\circ}$to investigate how muscle fatigue is related to muscle length. The knee extensor torque was measured and monitored. We have been training quadriceps and gastrocnemius of a male paraplegic patient by means of electrical stimulation for the past two year. FES standing was initiated when the knee extensors became strong enough to support the body weight, and then the patient started FES walking utilizing parallel bars and a walker. We used an 8-channel constant-voltage stimulator and surface electrodes. The experimental results indicated that paralyzed muscles fatigued rapidly around the optimal length contrary to normal muscles and confirmed that low frequency and intermittent stimulation delayed fatigue. Our exercise program increased muscle force by approximately 10 folds and decreased the fatigue index to half of the initial value. In addition, the exercise enabled the patient to voluntarily lift each leg up to 10cm, which was of great help to the swing phase of FES walking. Both muscle force and resistance to fatigue were significantly enhanced right after the exercise was applied every day instead of 6 days a week. Up to date, the patient can walk for more than two and half minutes at 10m/min while controlling the on/off time of the stimulator by pushing the toggle switch attached to the walker handle.

• Radiation Oncology Journal
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• v.23 no.1
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• pp.9-16
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• 2005

Purpose : To prospectively evaluate the use of positron emission tomography with the glucose analog fluoro-deoxyglucose (FDG-PET) to deoxyglucose (FDG-PET) to predict disease-free survival (DFS) after concurrent chemo-radiotherapy (CCRT) in patients with non-disseminated nasopharyngeal carcinoma (NPC). Materials and Methods : We studied 41 patients with non-disseminated NPC scheduled to undergo platinum-based CCRT were eligible for this study. Patients were studied by FDG-PET prior to the CCRT. FDG uptake of tumors were measured with the maximal standardized uptake value (SUV). Results : Complete response rate was $100\%$. In ten patients who presented with any component of treatment failure, the median $SUV_{max}$ was 8.55 (range: $2.49\~14.81$) in any component of failure and the median $SUV_{max}$ was 5.48 (range: $2.31\~26.07$) In the remaining patients without any such failure. Patients having tumors with high FDG uptake had a significantly lower 3-year DFS ($51\%\;{\nu}91\%$, p=0.0070) compared with patients having low uptake tumors. Conclusion : FDG uptake, as measured by the SUV, has potential value in predicting DFS in NPC treated by CCRT, High FDG uptake may be a useful parameter for Identifying patients requiring more aggressive treatment approaches.

• Korean Journal of Ichthyology
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• v.26 no.4
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• pp.310-321
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• 2014

Change in fish species composition after the Hebei Spirit oil spill in December 2007 off Taean were determined by analysis of samples collected in Mailpo beach, 10 km south from the oil spill site and polluted by the crude oil. Fish samples were collected by a beach seine in the shallow water at Malipo beach during the low tide of the new moon from February 2008 to December 2009. Five seine hauls were made during the day and the night in each sampling time. Monthly day and night samples did not show the significant differences in species composition. A total of 21 species, 1,032 individuals and 6,544 g of fish were collected in 2008, and 31 species, 4,206 individuals and 35,659 g of fish in 2009. The species collected were composed of the small-sized fish or juveniles. Abundant fishes were the resident species in coastal water, and the migrants were low in abundance. Among the fish occurred, Chelon haematochelius, Sebastes schlegelii, Takifugu niphobles and Pleuronectes yokohamae were predominated in abundance of both years. Monthly fish abundance and species diversity in 2008 were significantly lower than those in 2009. A few number of resident fish were collected from February to June 2008 showing the lowest in May 2008, and fish abundance increased from July 2008. The number of species and abundance of fish in 2009 were increased in spring as the temperature raised, showed a peak in summer and decreased in autumn. This monthly variation in fish species composition and abundance was similar to those in the non-polluted water in other temperate waters. Low fish abundance during several months after oil spill was considered to be related to the residual oil in the water and habitat disturbance due to oil cleaning activity in the beach. Monthly fish species compositions after September 2008 were similar to those of 2009 suggested that the impact on the shallow water fish by the oil residuals was not too significant at least to the fish species composition after September 2008.

• Radiation Oncology Journal
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• v.24 no.1
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• pp.1-10
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• 2006

Puroose: To present preliminary results of intensity-modulated radiotherapy (IMRT) using the simultaneous modulated accelerated radiation therapy (SMART) boost technique in patients with nasopharyngeal carcinoma (NPC). Materials and Methods: Twenty patients who underwent IMRT for non-metastatic NPC at the Asan Medical Center between September 2001 and December 2003 were prospectively evaluated. IMRT was delivered using the 'step and shoot' SMART technique at prescribed doses of 72 Gy (2.4 Gy/day) to the gross tumor volume (GTV), 60 Gy (2 Gy/day) to the clinical target volume (CTV) and metastatic nodal station, and 46 Gy (2 Gy/day) to the clinically negative neck region. Eighteen patients also received concurrent chemotherapy using cisplatin once per week. Results: The median follow-up period was 27 months. Nineteen patients completed the treatment without interruption; the remaining patient interrupted treatment for 2 weeks owing to severe pharyngitis and malnutrition. Five patients (25%) had RTOG grade 3 mucositis, whereas nine (45%) had grade 3 pharyngitis. Seven patients (35%) lost more than 10% of their pretreatment weight, whereas 11 (55%) required intravenous fluids and/or tube feeding. There was no grade 3 or 4 chronic xerostomia. All patients showed complete response. Two patients had distant metastases and loco-regional recurrence, respectively. Conclusion: IMRT using the SMART boost technique allows parotid sparing, as shown clinically and by dosimetry, and may also be more effective biologically. A larger population of patients and a longer follow-up period are needed to evaluate ultimate tumor control and late toxicity.