• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Journal of the Korean Society of Radiology
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• v.18 no.2
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• pp.73-81
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• 2024

This study compared the cortical thickness of patients with mood disorders and a control group to assess structural abnormalities. A retrospective study was conducted from September 2020 to August 2022 at the Department of Psychiatry, P Hospital in Yangsan, Gyeongsangnam-do. The study included 44 individuals diagnosed with mood disorders and 59 healthy individuals without any pathological lesions. The 3D-T1 MPRAGE images obtained from magnetic resonance imaging examinations were utilized, and FreeSurfer software was employed to measure cortical thickness. Statistical analysis involved independent samples t-tests to measure the differences in means between the two groups, and Cohen's d test was used to compare the effect sizes of the differences. Furthermore, the correlation between the measured average cortical thickness and Positive and Negative Syndrome Scale scores was analyzed. The research results revealed that patients with mood disorders exhibited decreased cortical thickness compared to the normal control group in both superior frontal regions, both rostral middle frontal regions, both caudal middle frontal regions, both pars opercularis, pars orbitals, pars triangularis regions, both superior temporal regions, both inferior temporal regions, both lateral orbitofrontal regions, both medial orbitofrontal regions, both fusiform regions, both posterior cingulate regions, both isthmus cingulate regions, both superior parietal regions, both inferior parietal regions, both supramarginal regions, left postcentral region, right bank of the superior temporal sulcus region, right middle temporal region, right rostral anterior cingulate region, and right insula region. Among them, regions that showed differences with effect sizes of 0.8 or higher were left fusiform (d=0.82), pars opercularis (d=0.94), superior frontal (d=0.88), right lateral orbitofrontal (d=0.85), and pars orbitalis (d=0.89). Additionally, there was a weak negative correlation between PANSS scores and average cortical thickness in both the left hemisphere (r=-0.234) and right hemisphere (r=-0.230). These findings are expected to be helpful in identifying areas of cortical thickness reduction in patients with mood disorders compared to healthy individuals and understanding the relationship between symptom severity and cortical thickness changes.

• The Journal of the Korean bone and joint tumor society
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• v.12 no.1
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• pp.37-46
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• 2006

Purpose: To evaluate the end results between the surgical treatment with neo-adjuvant chemotherapy in Korea and non-invasive high intensity focused ultrasound (HIFU) technique in China for osteogenic sarcomas. Materials and Methods: The surgical treatment with neoadjuvant chemotherapy for total 67 cases (4 IIA, 58 IIB, and 5 III) in Korea since 1993 and the HIFU therapy for total 71 cases (57 II and 14 III) in China since 1997 was performed. In Korea, neo-adjuvant chemotherapy in 66 cases out of total 67 patients, but the adjuvant chemotherapy in only one case was done. On the contrary, in China, full chemotherapy for more than 9 times for 37 patients with stage II out of total 71 cases, but for less than 8 times of partial chemotherapy for 23 patients (stage II) and 14 patients (stage III) was done. The surgical treatment in total 67 Korean patients was done with wide resection and reconstruction for 56 patients, but wide resection without reconstruction for 5 patients and amputation for 6 patients. In china, total 71 patients was treated with average 1.5 times (1~4 times) of HIFU, and if there are some evidences of residual tumor after HIFU with following MRI, the second HIFU therapy was given 2~4 weeks later. After then, the bony defect was in no touch, keep bracing for long time expecting regeneration. All of them were followed for average 46 Mo (12~150 Mo) in Korea, but followed for average 22 Mo (9 years~8 months) in China. Results: The 5 year survival rate (stage II), was average 92.7% (IIA 100%, IIB 85.5%) in Korea series, and average 78.7% (full chemotherapy 91.8%, part chemotherapy 56.6%) in China series. The 3 year survival rate (stage III) was 20% in Korea and 7.1% in China. So, the final overall survival rate was 65.2% in Korea and 51.8% in China. The overall functional outcome score by ISOLS was 24.3 (81%) in Korea and 19.8 (73%) in China. There are 25.4% (17/67 cases) of complications in Korea and 31% (27 complications in 22 patients out of total 71 cases) in China after each treatment. Conclusions: The end results of Korea series which was treated with neoadjuvant chemo- and surgical methods are better than that of non-invasive thermal ablation in china. But we also believe the HIFU, as one of, was also effective to decrease the local recurrence and symptomatic releaf for stage II or even in III of osteogenic sarcomas.

• Radiation Oncology Journal
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• v.12 no.2
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• pp.151-158
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• 1994

Since Jan. 1992, authors have conducted a pilot study to treat malignant glioma with multiple daily fractionated(MDF) radiation therapy and this paper presents the outcome compared MDF to conventional factionated(CF) radiation therapy Between Sep. 1989 and Jan. 1993, forty three patients with high grade glioma of brain except brain stem glioma were treated: nineteen patients were treated with CF radiation therapy and 24 patients were treated with MDF radiation therapy. In CF radiation therapy, total dose was 6300cGy/35fx in 7 weeks, which 5040cGy was delivered to the initial target volume and 1260cGy to reduced target volume. And in MDF radiation therapy, total dose was 6400cGy/40fx in 4 weeks, which 3200cGy was delivered to the initial target volume as 160cGy 2 times daily 6hr apart. All patients had histologically confirmed anaplastic astrocytoma(AA) of glioblastoma multiforme (GBM) with stereotactic biopsy or craniotomy for subtotal or gross tumor resection. The range of follow-up was 7 months to 4 years with a median follow-up of 9 months. The Median survival from surgery was 9 months for all patients. The median survival was 9 months and 10 months for MDF group and CF group and 10 months and 9.5 months for glioblastoma multiforme and anaplastic astrocytoma, respectively. In 36 patients with follow-up CT scan or MRI scan, disease status was evaluated according to treatment groups, Four patients(GBM:3, AA:1) of 21 patients in MDF group, were alive with no evidence of disease, while none of patient was alive with no evidence of disease in CF group. The progression of disease had occurred in 20 patients, 11 patients and 9 patients in MDF group and CF group, respectively All of these patients showed in-field progression of disease, Four of 11 patients($27\%$) in MDF group showed the new leasion outside of the treatment field, while 5 of 9 patients($56\%$) in CF group. In our study the prognosis was not influenced by age, KPS, grade, extent of surgery and different fractional scheduled radiation therapy. Authors concluded that MDF regimen was well tolerated and shortened the treatment period from 7 weeks to 4 weeks without compromising results. We believe that further follow-up is needed to assess the role of MDF.

• The Journal of Korean Society for Radiation Therapy
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• v.28 no.2
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• pp.179-186
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• 2016

Purpose : To figure out if the treatment plan for rectum, bladder and prostate that have a lot of interfraction errors satisfies dosimetric limits without adaptive plan by analyzing MR image. Materials and Methods : This study was based on 5 prostate cancer patients who had IMRT(total dose: 70Gy) Using ViewRay MRIdian System(ViewRay, ViewRay Inc., Cleveland, OH, USA) The treatment plans were made on the same CT images to compare with the plan quality according to adaptive plan, and the Eclipse(Ver 10.0.42, Varian, USA) was used. After registrate the 5 treatment MR images to the CT images for treatment plan to analyze the interfraction changes of organ, we measured the dose volume histogram and the changes of the absolute volume for each organ by appling the first treatment plan to each image. Over 5 fractions, the total dose for PTV was $V_{36.25}$ Gy $${\geq_-}$$ 95%. To confirm that the prescription dose satisfies the SBRT dose limit for prostate, we measured $V_{100%}$, $V_{95%}$, $V_{90%}$ for CTV and $V_{100%}$, $V_{90%}$, $V_{80%}$ $V_{50%}$ of rectum and bladder. Results : All dose average value of CTV, rectum and bladder satisfied dose limit, but there was a case that exceeded dose limit more than one after analyzing the each image of treatment. After measuring the changes of absolute volume comparing the MR image of the first treatment plan with the one of the interfraction treatment, the difference values were maximum 1.72 times at rectum and maximum 2.0 times at bladder. In case of rectum, the expected values were planned under the dose limit, on average, $V_{100%}=0.32%$, $V_{90%}=3.33%$, $V_{80%}=7.71%$, $V_{50%}=23.55%$ in the first treatment plan. In case of rectum, the average of absolute volume in first plan was 117.9 cc. However, the average of really treated volume was 79.2 cc. In case of CTV, the 100% prescription dose area didn't satisfy even though the margin for PTV was 5 mm because of the variation of rectal and bladder volume. Conclusion : There was no case that the value from average of five fractions is over the dosimetric limits. However, dosimetric errors of rectum and bladder in each fraction was significant. Therefore, the precise delivery is needed in case of prostate SBRT. The real-time tracking and adaptive plan is necessary to meet the precision delivery.

• Clinics in Shoulder and Elbow
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• v.15 no.2
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• pp.86-90
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• 2012

Purpose: We studied the need for distal clavicle resection by comparing rotator cuff tear patients who underwent non-surgical treatment with and without acromioclavicular joint pathology. Materials and Methods: 45 cases that had been under follow up care for at least 9 months after receiving rotator cuff repair in our hospital between Jan. 2005 and Jun. 2011 had been studied. Acromioclavicular joint pathology group and control group were classified by physical examination and MRI findings. The temporal changes in shoulder joint abduction, internal and external rotation strength, ASES and KSS score of the two groups were measured and analyzed. Results: The acromioclavicular joint pathology complicated rotator cuff injury group's strength measurements for abduction, internal rotation, external rotation were each 8.05 (${\pm}4.54$), 11.33 (${\pm}6.05$), 10.24 (${\pm}5.27$) preoperatively and improved to 13.26 (${\pm}5.50$), 17.51 (${\pm}6.80$), 15.60 (${\pm}5.37$) post operatively while the KSS score and ASES score were each 49.07 (${\pm}15.28$) and 48.65 (${\pm}13.27$) preoperatively, improving to 84.48 (${\pm}10.96$) and 84.65. (${\pm}9.86$). The measurements for the group without complicating acromioclavicular pathology are as follows. The strength for abduction, internal rotation, external rotation was each 6.42 (${\pm}3.11$), 7.59 (${\pm}4.81$) and 7.93 (${\pm}4.49$) preoperatively, improving to 15.85 (${\pm}7.35$), 19.18 (${\pm}9.14$), 16.95 (${\pm}5.70$) post operatively, while the KSS score and ASES score each went from 42.12 (${\pm}6.43$) and 41.37 (${\pm}7.42$) to 83.44 (${\pm}6.30$) and 83.17 (${\pm}7.01$) respectively. The measurements for the two groups, however, did not show a statistically significant difference (p>0.05). Conclusion: Analysis of the rotator cuff injury groups with and without AC joint pathology showed that both groups had improved strength, ASES and KSS scores with no statistical difference difference among the groups. As such, it thought that conservative treatment is an acceptable alternative to distal clavicle resection.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.12 no.1
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• pp.103-114
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• 2001

Tourette's disorder is a disease which manifests one or more motor tics and vocal tics for more than a year. Chronic motor tic or vocal tic disorders are characterized by only one kind of tics for more than a year. We intended to investigate the clinical characteristics of the patients with chronic motor tic disorders or Tourette's disorders who had admitted from May 1, 1998 to May 1, 1999 to Seoul National University Hospital Child and Adolescent Psychiatry ward. In addition, we compared the clinical characteristics of the patients in order to elucidate the relationship between the two disorders. The patients with learning disabilities were selected as controls. There was no statistically significant difference between the onsets of the patients with chronic motor tic disorders(n=13, $7.3{\pm}2.5$ years), and Tourette's disorder(n=39, $7.2{\pm}2.2$ years), but with learning disability($4.2{\pm}1.9$ years). Also, the patients with chronic motor tic disorder and Tourette's disorder showed similar age at admission($11.7{\pm}2.7$ versus $11.5{\pm}2.6$ years), duration of admission($5.7{\pm}5.4$ versus $11.0{\pm}8.7$ weeks), mothers' ages at child birth($27.3{\pm}2.9$ versus $28.3{\pm}6.7$ years old),and fathers' age at child birth($32.2{\pm}3.2$ versus $33.3{\pm}5.2$ years old). We observed that those who had learning disabilities were alike in those aspects, except for age at visit to clinic($9.8{\pm}3.2$ years old). Family history of psychiatric illnesses(24.1% versus 46.2%), recognized precipitating factors(11.1% versus 35.7%) and response to pharmacological treatments(77.8% versus 76.9%) of the patients with chronic motor tic disorders and Tourette's disorders were observed and no differences were found. Comorbid patterns of diseases were noted. Intrafamilial conflicts were more common in the patients with learning disabilities than those with chronic tic disorders or Tourette's disorders. Precipitating factors were observed more frequent in chronic tic disorder and Tourette's disorder than learning disability. Neurocognitive profiles were investigated, and verbal IQs of the patients with chronic motor tic disorder, Tourette's disorder and learning disability were $92.3{\pm}10.7$, $94.7{\pm}14.9$, $94.3{\pm}13.8$, performance IQs $93.0{\pm}20.5$, $97.5{\pm}13.0$, $95.0{\pm}16.9$ and full-scale IQs $91.9{\pm}20.1$, $95.8{\pm}14.5$, $93.9{\pm}15.1$, respectively, which were found to be not significantly different. No difference was found in structural neurological abnormalities and EEG profiles. The patients with learning disabilities showed more common Bender-Gestalt test abnormalities. In conclusion, we have not found any affirmative clues for the division of chronic motor tic disorder and Tourette's disorder in clinical perspective.

• Tuberculosis and Respiratory Diseases
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• v.47 no.5
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• pp.642-649
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• 1999

Background: It is very important to determine an accurate staging of the non-small cell lung cancer(NSCLC) for an assessment of operability and it's prognosis. However, it is difficult to evaluate tumor involvement of mediastinal lymph nodes accurately utilizing noninvasive imaging modalities. PET is one of the sensitive and specific imaging modality. Unfortunately PET is limited use because of prohibitive cost involved with it's operation. Recently hybrid SPECT/PET(single photon emission computed tomography/positron emission tomography) camera based PET imaging was introduced with relatively low cost. We evaluated the usefulness of coincidence detection(CoDe) PET in the detection of metastasis to the mediastinal lymph nodes in patients with NSCLC. Methods: Twenty one patients with NSCLC were evaluated by CT or MRI and they were considered operable. CoDe PET was performed in all 21 patients prior to surgery. Tomographic slices of axial, coronal and sagittal planes were visually analysed. At surgery, mediastinal lymph nodes were removed and histological diagnosis was performed. CoDe PET findings were correlated with histological findings. Results: Twenty of 21 primary tumor masses were detected by the CoDe PET. Thirteen of 21 patients was correctly diagnosed mediastinal lymph node metastasis by the CoDe PET. Pathological N0 was 14 cases and the specificity of N0 of CoDe PET was 64.3%. Sensitivity, specificity, positive predictive value, negative predictive value and accuracy of N1 node was 83.3%, 73.3%, 55.6%, 91.7%, and 76.2% respectively. Sensitivity, specificity, positive predictive value, negative predictive value and accuracy of N2 node was 60.0%, 87.5%, 60.0%,87.5%, and 90.0% respectively. There were 3 false negative cases but the size of the 3 nodes were less than 1cm. The size of true positive nodes were 1.1cm, 1.0cm, 0.5cm respectively. There were 1 false positive among the 12 lymph nodes which were larger than 1cm. False positive cases consisted of 1 tuberculosis case, 1 pneumoconiosis case and 1 anthracosis case. Conclusion: CoDe PET has relatively high negative predictive value in the enlarged lymph node in staging of mediastinal nodes in patients with NSCLC. Therefore CoDe PET is useful in ruling out metastasis of enlarged N3 nodes. However, further study is needed including more number of patients in the future.

• Journal of Oral Medicine and Pain
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• v.32 no.4
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• pp.441-447
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• 2007

Internal derangement of the temporomandibular joint(TMJ) is defined as an abnormal relationship of the articular disc to the condyle. Mandibular manipulation is one of the conservative treatments to be considered first to manage the patients with anterior disc displacement without reduction. Mandibular manipulation is used to increase articular mobility and to restore the displaced disc into an anatomically normal position. While Farrar's technique has been popularly used, Minagi et al., Mongini and Suarez introduced the manipulation technique conducted by the patients themselves. But there is no study on the efficacy of self-manipulation technique, comparing with conventional one. The aim of this study was to investigate the efficacy of the conventional and self-manipulation technique, which was modified to complement the previously described technique by Minagi et al., in the treatment of patients with anterior disc displacement without reduction. TMD patients, who visited Department of Oral Medicine of Seoul National University Dental Hospital from December, 2002 to November, 2004 and were diagnosed as anterior disc displacement without reduction by TMJ magnetic resonance imaging (MRI) were enrolled. Conservative treatments including physical therapy, exercise, behavioral therapy, stabilization splint therapy, and manipulation therapy were done to every single patient until the symptomsimproved enough to discharge the patient. The charts were reviewed retrospectively according to the type of manipulation. In the results, patients whose maximum mouth opening was more than 40 mm was higher in the self-manipulation group(69.9%) than in the conventional manipulation group(42.9%). But difference between two groups was not significant. According to the fact that we decided to discharge the patients whentheir mouth opening increased to more than 40 mm and subjective symptoms such as pain and discomfort were improved as well, treatment period of discharged patients was significantly shorter in the self-manipulation group($29.2{\pm}12.3$ weeks) than in the conventional manipulation group ($61.0{\pm}38.0$ weeks) (p<0.01). In conclusion, in the treatment of TMD patients with anterior disc displacement without reduction, the self-manipulation technique which is performed by patients themselves is an effective treatment modality for increasing the range of mouth opening and shortening the total treatment period.

• Radiation Oncology Journal
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• v.16 no.3
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• pp.311-323
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• 1998

Purpose : Prospective, single arm, Phase I/II clinical trial was performed to assess the efficacy and toxicity of the concurrent chemotherapy and definitive radiotherapy (RT) in patients with previously untreated locally advanced carcinoma of the uterine cervix. Methods and Materials : From Mar 1992 to January 1997, a total of 73 patients with advanced cervical carcinoma were entered on the protocol but 5 patients were excluded in analysis because of patients' refusal of treatment. Their ages ranged from 31 to 77 years, median 58 years. The International Federation of Gynecology and Obstetrics (FIGO) stage distribution was as follows: IIB 46, IIIA 2, IIIB 15 and IVA 5. RT consisted of external beam irradiation to 4,140-5,040 cGy/23-28 fractions plus high dose rate intracavitary treatments to deliver a dose of 30-35 Gy to point A in 6-7 fractions. During the intracavitary treatments parametrial boost was delivered for point B dose of 60 Gy in stage IIB and 65 Gy in stage IIIB. Two cycles of concurrent 5-fluorouracil and cisplatin (FP) chemotherapy (5-fluorouracil 1,000 mg/$m^2$/day continuous infusion for 4 days, day 1-4, 29-32 and cisplatin 20 mg/$m^2$/day intravenous bolus for 3 days day 1-3, 29-31) administered starting on day 1 of RT. Results : The median follow-up was 24 months (range 4-68+). Sixty-four patients were evaluable for survival rate in this protocol: The 5-year actuarial and disease-free survival rate were 52$\%$ and 64$\%$, respectively. The 5-rear actuarial survival for stage IIB and III+IVA patients were 58$\%$ and 36$\%$, respectively The 5-year disease-free survival rate for stage IIB and III+IVA patients were 71$\%$ and 40$\%$, respectively. Of the 68 patients evaluated for patterns of failure, overall recurrence rate was 27.9$\%$ (19/68) : local failure in 5.9$\%$ (4/68), distant metastasis in 10.3$\%$ (7/68) and both in 11.8$\%$ (8/68). Of the 64 patients evaluated for response at one month after the completion of treatment the complete response rate was 78$\%$ (50/64). Concurrent chemoradiation appear to be a well-tolerated regimen but there were two treatment-related deaths. Conclusion : Concurrent chemotherapy of FP with high-dose definitive RT in locally advanced carcinoma of the uterine cervix is feasible and effective with acceptable toxicities. This chemoradiation regimen may offer a modest survival benefit for advanced stage. Further follow-up of these patients will evaluate the impact of this regimen on the long-term local control and their survival.