• The Journal of Korean Society for Radiation Therapy
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• v.33
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• pp.109-116
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• 2021

Purpose: The purpose of this study is to evaluate the usefulness of Surface-Guided Patient Setup by comparing the patient positioning accuracy when image-guided radiation therapy was used for Markerless patients(unmarked on the skin) using Surface-Guided Patient Setup and Marker patients(marked on the skin) using Laser-Based Patient Setup. Materials And Methods: The position error during IGRT was compared between a Markerless patient initially set up with SGPS using an optical surface scanning system using three cameras and a Marker patient initially set up with LBPS that aligns the laser with the marker drawn on the patient's skin. Both SGPS and LBPS were performed on 20 prostate cancer patients and 10 Stereotactic Radiation Surgery patients, respectively, and SGPS was performed on an additional 60 breast cancer patients. All were performed IGRT using CBCT or OBI. Position error of 6 degrees of freedom was obtained using Auto-Matching System, and comparison and analysis were performed using Offline-Review in the treatment planning system. Result: The difference between the root mean square (RMS) of SGPS and LBPS in prostate cancer patients was Vrt -0.02cm, Log -0.02cm, Lat 0.01cm, Pit -0.01°, Rol -0.01°, Rtn -0.01°, SRS patients was Vrt 0.02cm, Log -0.05cm, Lat 0.00cm, Pit -0.30°, Rol -0.15°, Rtn -0.33°. there was no significant difference between the two regions. According to the IGRT standard of breast cancer patients, RMS was Vrt 0.26, Log 0.21, Lat 0.15, Pit 0.81, Rol 0.49, Rtn 0.59. Conclusion:. As a result of this study, the position error value of SGPS compared to LBPS did not show a significant difference between prostate cancer patients and SRS patients. In the case of additionally performed SGPS breast cancer patients, the position error value was not large based on IGRT. Therefore, it is considered that it will be useful to replace LBPS with SGPS, which has the great advantage of not requiring patient skin marking..

• 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.