• 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.

• Sleep Medicine and Psychophysiology
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• v.5 no.1
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• pp.54-70
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• 1998

Objectives : The purpose of this study is to evaluate the role of structural and functional changes of the brain in the pathophysiology of schizophrenia. Methods : The authors measured the regions of interest on the magnetic resonance imaging of the brain in 20 patients with paranoid schizophrenia(15 men and 5 women) and 23 control subjects(15 men and 8 women). We also assessed the neurocognitive functions with the Wisconsin Card Sorting Test, the Benton Neuropsychological Assessment, and the Weschler IQ test-Korean version, soft neurologic signs, and psychiatric symptoms in the patient group. Results : In the patient group, all ventricles and basal ganglia including caudate nucleus and globus pallidus were significantly enlarged. Although there were no significant differences between the two groups in the values of right frontal lobe and left temporal lobe, there was a tendency of decrease in the values of right frontal lobe and left temporal lobe. There were significant positive correlations between the values of ventricles and the frequency of previous hospitalization. However, there were no significant correlations between other values of regions of interest and clinical data. The value of the right frontal lobe was significantly correlated with the score of soft neurologic signs, which is suggestive of the neurodevelopmental abnormalities. There were significant correlations between the value of frontal lobe and the scores of the various subscales of Benton Neuropsychiatric Inventory. In contrast, the value of left amygdala and putamen showed significant correlation with the score of verbal IQ on the Weschler IQ test. Structural changes of the temporal lobe areas were related with the positive and general symptom scores on PANSS, while those of the basal ganglia were related with the negative symptom scores. Conclusions : These results suggest that the structural changes of the brain in the patients with schizophrenia show the dual process, which is suggestive that the enlarged ventricle show the neurodegenerative process, while enlarged basal ganglia, and shrinked right frontal and left temporal lobe show the neurodevelopmental abnormalities. Among these changes, structural changes of the frontal lobe related with various neuropsychological deficits, while those of left temporal lobe related with language abnormality. Relative to the relation between structural changes and psychiatric symptoms, structural changes of the temporal lobe areas were related with the positive and general symptoms, while those of the basal ganglia were related with the negative symptoms.

• 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.

• 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.