• Journal of Genetic Medicine
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• v.16 no.2
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• pp.55-61
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• 2019

Purpose: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. Materials and Methods: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. Results: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. Conclusion: To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.

• Health Policy and Management
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• v.25 no.1
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• pp.40-52
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• 2015

Background: The purpose of this study was to analyze the increase in Grade of Nursing Management Fee of medical institutions and establish a reasonable government policy by examining which factors affect the increase of nurse staffing. Methods: Analyzing data collected from the Health Insurance Review & Assessment Service resource management department with targets of 1,104 medical institutions. The study period was 5 years from June 30, 2008 to June 30, 2013. SAS ver. 9.2 (SAS Institute Inc., Cary, NC, USA) was used for statistical analysis. The data was analyzed by a chi-square test and also conducted muiltivariate logistic regression analyses for variables of basic characteristics, human resource characteristics, and material resources. Results: Adjusted odds ratio (AOR) of the rise in Grade of Nursing Management Fee among other hospitals compared to hospitals owned by government or universities was 0.264. The AOR in hospitals established after November 2006 compared to those before June 1995 was 2.383. The AOR in Gangwon, Chungcheng South, and Jeolla South Provinces compared to Seoul was 0.084, 0.036, and 0.194, respectively. The AOR in hospitals with more than 6.75 specialists per 100 beds compared to those with less than 6.75 specialists per 100 beds was 7.514. The AOR in hospitals with more than 17.48 nurse per 100 beds compared to those with less than 17.48 nurse per 100 beds was 3.300. The AOR in hospitals with 50% to 75% bed utilization, 75% to 90% bed utilization and more than 90% bed utilization compared to those with less than 50% bed utilization was 5.428, 9.884, and 10.699, respectively. The AOR in hospitals with one magnetic resonance imaging (MRI) and more than two MRI compared to those with no MRI was 2.018 and 2.942, respectively. Conclusion: This result has showed policies to induce the rise in Grade of Nursing Management Fee among old hospitals and the incentive system for local medical institutions are needed. Also we need to develop a governmental policy for medium-small hospitals with low operation rate of beds and insufficient medical personnel and number of equipment in hospitals.

• Radiation Oncology Journal
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• v.33 no.3
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• pp.207-216
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• 2015

Purpose: Stereotactic radiosurgery (SRS) has been introduced for small-sized single and oligo-metastases in the brain. The aim of this study is to assess treatment outcome, efficacy, and prognostic variables associated with survival and intracranial recurrence. Materials and Methods: This study retrospectively reviewed 123 targets in 64 patients with non-small cell lung cancer (NSCLC) treated with SRS between January 2006 and December 2012. Treatment responses were evaluated using magnetic resonance imaging. Overall survival (OS) and intracranial progression-free survival (IPFS) were determined. Results: The median follow-up was 13.9 months. The median OS and IPFS were 14.1 and 8.9 months, respectively. Fifty-seven patients died during the follow-up period. The 5-year local control rate was achieved in 85% of 108 evaluated targets. The 1- and 2-year OS rates were 55% and 28%, respectively. On univariate analysis, primary disease control (p < 0.001), the Eastern Cooperative Oncology Group (ECOG) performance status (0-1 vs. 2; p = 0.002), recursive partitioning analysis class (1 vs. 2; p = 0.001), and age (<65 vs. ${\geq}65$ years; p = 0.036) were significant predictive factors for OS. Primary disease control (p = 0.041) and ECOG status (p = 0.017) were the significant prognostic factors for IPFS. Four patients experienced radiation necrosis. Conclusion: SRS is a safe and effective local treatment for brain metastases in patients with NSCLC. Uncontrolled primary lung disease and ECOG status were significant predictors of OS and intracranial failure. SRS might be a tailored treatment option along with careful follow-up of the intracranial and primary lung disease status.

• Archives of Plastic Surgery
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• v.37 no.5
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• pp.712-716
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• 2010

Purpose: Extensive lumbosacral defects after removal of spinal tumors have a high risk of wound healing problems. Therefore it is an effective reconstructive strategy to provide preemptive soft tissue coverage at the time of initial spinal surgery, especially when there is an instrument exposure. For soft tissue reconstruction of a lumbosacral defect, a variation of the gluteal flap is the first-line choice. However, the musculocutaneous flap or muscle flap that is conventionally used, has many disadvantages. It damages gluteus muscle and causes functional disturbance in ambulation, has a short pedicle which limits areas of coverage, and can damage perforators, limiting further surgery that is usually necessary in spinal tumor patients. In this article, we present the superior gluteal artery perforator turn-over flap that reconstructs complex lumbosacral defects successfully, especially one that has instrument exposure, without damaging the ambulatory function of the patient. Methods: A 67 year old man presented with sacral sarcoma. Sacralectomy with L5 corpectomy was performed and resulted in a $15{\times}8\;cm$ sized complex soft tissue defect in the lumbosacral area. There was no defect in the skin. Sacral stabilization with alloplastic fibular bone graft and reconstruction plate was done and the instruments were exposed through the wound. A $18{\times}8\;cm$ sized superior gluteal artery perforator flap was designed based on the superior gluteal artery perforator and deepithelized. It was turned over 180 degrees into the lumbosacral dead space. Soft tissue from both sides of the wound was approximated over the flap and this provided in double padding over the instrument. Results: No complications such as hematoma, flap necrosis, or infection occurred. Until three months after the resection, functional disturbances in walking were not observed. The postoperative magnetic resonance imaging scan shows the flap volume was well maintained over the instrument. Conclusion: This superior gluteal artery perforator turn-over flap, a modification of the conventional superior gluteal artery perforator flap, is a simple method that enabled the successful reconstruction of a lumbosacral defect with instrument exposure without affecting ambulatory function.

• The Journal of Korean Physical Therapy
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• v.18 no.6
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• pp.1-11
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• 2006

Purpose: This study compared the effects of non-cold and cold conditions on the viscoelastic properties of tendon structures in vivo. Methods: Seven male subjects perfomed plantar flesion exercise with maximal isokinetic voluntary contraction, which consisted of muscle contraction for 6 see and relaxation for 60 secs, 10 times for 1 set, Totally 10 sets were repeated. Before and after each task, the elongation of the tendon and aponeurosis of the medial gastrocnemius muscle (MG) was directly measured by ultrasonography. (The relationship between the estimated tendon force and tendon elongation.) Tendon cross-sectional area and ankle joint moment arm were obtained from magnetic resonance imaging (MRI). The tendon force was calculated from the joint moments and the tendon moment arm and stress was obtained by dividing force by cross-sectional areas (CSA). The strain was measured from the displacements normalized to tendon length. Results: After cooling, the tendon force was larger in cold than non-cold. The value of the tendon stiffness of MVC were significantly higher under the cold condition than under the non-cold condition. The maximal strain and stress of $7.4{\pm}0.7%$ and $36.4{\pm}1.8$ MPa in non-cold and $7.8{\pm}8.5%,\;31.8{\pm}1.1$ MPa in cold (P<0.05). Conclusion: This study shows for the first time that the muscle endurance in cooling increases the stiffness and Young's modulus of human tendons. The improvement in muscle endurance with cooling was directly related to muscle and tendon.

• Radiation Oncology Journal
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• v.30 no.2
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• pp.53-61
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• 2012

Purpose: To determine feasibility of RapidArc in sequential or simultaneous integrated tumor boost in whole brain radiation therapy (WBRT) for poor prognostic patients with four or more brain metastases. Materials and Methods: Nine patients with multiple (${\geq}4$) brain metastases were analyzed. Three patients were classified as class II in recursive partitioning analysis and 6 were class III. The class III patients presented with hemiparesis, cognitive deficit, or apraxia. The ratio of tumor to whole brain volume was 0.8-7.9%. Six patients received 2-dimensional bilateral WBRT, (30 Gy/10-12 fractions), followed by sequential RapidArc tumor boost (15-30 Gy/4-10 fractions). Three patients received RapidArc WBRT with simultaneous integrated boost to tumors (48-50 Gy) in 10-20 fractions. Results: The median biologically effective dose to metastatic tumors was 68.1 $Gy_{10}$ and 67.2 $Gy_{10}$ and the median brain volume irradiated more than 100 $Gy_3$ were 1.9% (24 $cm^3$) and 0.8% (13 $cm^3$) for each group. With less than 3 minutes of treatment time, RapidArc was easily applied to the patients with poor performance status. The follow-up period was 0.3-16.5 months. Tumor responses among the 6 patients who underwent follow-up magnetic resonance imaging were partial and stable in 3 and 3, respectively. Overall survival at 6 and 12 months were 66.7% and 41.7%, respectively. The local progression-free survival at 6 and 12 months were 100% and 62.5%, respectively. Conclusion: RapidArc as a component in whole brain radiation therapy for poor prognostic, multiple brain metastases is an effective and safe modality with easy application.

• The Korean Journal of Nuclear Medicine
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• v.37 no.5
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• pp.331-335
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• 2003

Purpose: Accurate assessment of the lesion after treatment of patients with bone lymphoma is difficult. In this patient who demonstrated complete remission after chemotherapy, the regions of fluorine-18 fluorodeoxyglucose $(^{18}FFDG)PET$ uptake diminished more rapidly fellowing therapy, indicating a complete response at much earlier stage than did Magnetic Resonance Imaging (MRI) or CT based findings. With the conventional methods, such as MRI and CT, It was difficult to assess whether the residual tumor tissue was viable or not. Decision to complete response is very important in patients with lymphoma to plan the further treatment. We experienced a patient with primary lymphoma of bone who revealed complete response to chemotherapy on $^{18}FFDGPET$ while CT showed persistent destructive bone lesion. Thus, $^{18}FFDGPET$ study after therapy may be superior to CT in the evaluation of response to treatment in primary lymphoma of bone.

• Journal of the Korean Arthroscopy Society
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• v.5 no.1
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• pp.32-35
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• 2001

Purpose : To evaluate the efficacy of arthroscopic management of the triangular fibrocartilage complex(TFCC). Materials and Methods : Thirteen patients(14 wrists) with acute or chronic traumatic triangular fibrocartilage complex lesions were included in the study. The mean patients' age was 28.3 years, with a range of 21 to 45 years. All patients were diagnosed by physical examination, arthrographic or magnetic resonance imaging studies. Eight of the 14 wrists had central TFCC tear while 6 wrists had peripheral tear. Under arthroscopic control, injuries to the central portions were treated by debridement and excision of unstable tissue fragment while peripheral tears were repaired. The follow-up period averaged 28 months. The results were analyzed clinically using the Mayo modification of the Green and O' Brien wrist scoring system. Results : Nine of the 14 wrists were rated excellent,3 good and 2 fair Overall, 12 of the 14 patients rated as satisfactory and returned to sports or work activities. Conclusion : Arthroscopic treatment of TFCC resulted in a high degree of patient satisfaction and an increase in the ability to perform at workshop.

• Journal of Korean Neurosurgical Society
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• v.30 no.1
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• pp.47-53
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• 2001

Objective : This study was undertaken to evaluate operative results and prognosis according to preoperative clinical status and histopathological finding of spinal cord tumor. Methods : We analyzed of clinical feature, tumor location, histopathologic finding, operative results and prognosis in 55 patients with spinal cord tumor during last 10 years. Results : 1) The incidence of spinal cord tumors varies with the age of affected patients who are 2 to 75 years of age. Peak incidences were in the 5th & 7th decade of life, and the ratio of male to female was 1.2:1. 2) The most common histopathologic type was neurinoma(41.9%). 3) The tumors were located most frequently in the thoracic area(22 cases, 40.0%) and in the intradural extramedullary space(30 cases, 54.5%). 4) The most common initial clinical feature was pain in 20 cases(36.4%). For neurologic status on admission, 30 cases(54.5%) showed motor disturbance. 5) In radiologic studies, there were abnormal finding in 21 cases from plain X-rays among 37 cases. The entire 20 cases in when myelography was done showed subarachnoid blockade, either complete or incomplete. The magnetic resonance imaging, regard as the most accurate diagnostic method, revealed the exact location of the tumor and the relationship of the tumor with the adjacent anatomical structure. 6) The total removal was possible in 36 cases(65.5%), subtotal removal in 17 cases(30.9%) and biopsy in 2 cases (3.6%). Nineteen cases(90.5%) among 21 cases with preoperative radiculopathy group showed recovery or improvement, where as only 11 cases(36.7%) among 30 cases with preoperative motor weakness group showed recovery or improvement, with statistically significant difference(p<0.01). Pathologically, 26 cases(83.9%) among 31 cases of neurinoma and meningioma showed postoperative recovery or improved, but only 1 case(6.3%) among 16 cases of metastatic tumor, astrocytoma and ependymoma recovered. Postoperative complication noted in 5 cases(9.1%), and were noted postoperative hematoma, pneumonia, pulmonary edema and spinal cord infarction. Conclusion : Preoperative neurologic status and histopathologic finding are considered important factors of Postoperative outcome in patients with spinal cord tumor.

• Journal of Korean Neurosurgical Society
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• v.30 no.1
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• pp.41-46
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• 2001

Objective : The exact position of the lesion during the pallidotomy is critical to obtain the clinical improvement of parkinson's disease without damage to surrounding structure. Ventriculogrphy, CT(computed tomograpy) or MRI(magnetic resonance imaging) have been used to determine the initial coordinates of stereotactic target for pallidotomy. The goal of this study was to determine whether microelectrode recording significantly improves the neurophysiologic localization of the target obtained from MRI. Methods : Twenty patients were studied. They underwent a unilateral pallidotomy. Leksell frame was applied and T1 axial images parallel to the AC-PC(anterior commissure-posterior commissure) plane using a 1.5 Tesla MRI with 3mm slice thickness were obtained. Anteroposterior coordinate of target was chosen at 2mm in front of the midcommissural point and lateral coordinate between 19 and 22mm from the midline. The vertical coordinate was calculated on coronal slice using a fast spin echo inversion recovery sequence(FSEIR) related to the position of the choroidal fissure and ranged over 4-5mm below the AC-PC plane. Confirmation of the anatomical target was done on axial slices using the same FSEIR sequence . Microrecording was done at the pallidum contralateral to the symptomatic side using an electrode with a tip diameter of $1{{\mu}m}$ diameter tip and 1.1-1.4 mOhm impedance at 1000Hz. Electrophysiologic localization of the target was also confirmed intraoperatively by macrostimulation. Results : Microrecording techniques were reliable to define the transition from the base of the pallidum which was characterized by the disappearance of spike activity and by the change of the audible background activity. Signals from high amplitude neurons firing at 200-400Hz were recorded in the pallidal base. X, Y and Z coordinates of target obtained from the MRI were within 1mm from the X, Y, Z coordinates obtained with microrecording in 16 patients (80%), 15 patients(75%), 10 patients(50%) respectively. The difference of Y coordinate between on MRI and on microrecording was 4mm in only one patient. Conclusion : The MRI was accurate to localize the target within 1mm of the error from microrecording target in 70% of the patients. 4mm discrepancy was observed only once. We conclude that MRI alone can be used to determine the target for pallidotomy in most patients. However, microrecording technique can still be extremely valuable in patents with aberrant anatomy or unusual MRI coordinates. We also consider physiologic confirmation of the target using macrostimulation to be mandatory in all cases.