• 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.

• Korean Journal of Radiology
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• v.22 no.10
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• pp.1658-1670
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• 2021

Objective: To assess the two-year treatment outcomes of chemoembolization with drug-eluting embolics (DEE) for nodular hepatocellular carcinoma (HCC). Materials and Methods: This study was a prospective, multicenter, registry-based, single-arm trial conducted at five university hospitals in Korea. Patients were recruited between May 2011 and April 2013, with a target population of 200. A DC Bead loaded with doxorubicin was used as the DEE agent. Patients were followed up for two years. Per-patient and per-lesion tumor response analysis, per-patient overall survival (OS) and progression-free survival (PFS) analysis, and per-lesion tumor control analysis were performed. Results: The final study population included 152 patients, with 207 target lesions for the per-lesion analysis. At one-month, six-month, one-year, and two-year per-patient assessments, complete response (CR) rates were 40.1%, 43.0%, 33.3%, and 19.6%, respectively. The objective response (OR) rates were 91.4%, 55.4%, 35.1%, and 19.6%, respectively. The cumulative two-year OS rate was 79.7%. The cumulative two-year PFS rate was 22.4% and the median survival was 9.3 months. In multivariable analysis, the Child-Pugh score (p = 0.019) was an independent predictor of OS, and tumor multiplicity (p < 0.001), tumor size (p = 0.020), and Child-Pugh score (p = 0.006) were independent predictors of PFS. In per-lesion analysis, one-month, six-month, one-year and two-year CR rates were 57.5%, 58.5%, 45.2%, and 33.3%, respectively, and the OR rates were 84.1%, 65.2%, 46.6%, and 33.3%, respectively. The cumulative two-year per-lesion tumor control rate was 36.2%, and the median time was 14.1 months. The Child-Pugh score (p < 0.001) was the only independent predictor of tumor control. Serious adverse events were reported in 11 patients (7.2%). Conclusion: DEE chemoembolization for nodular HCCs in the Korean population showed acceptable survival, tumor response, and safety profiles after a two-year follow-up. Good liver function (Child-Pugh score A5) was a key predictor of per-patient OS, PFS, and per-lesion tumor control.

• Health Policy and Management
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• v.34 no.2
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• pp.185-195
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• 2024

Background: Disabled people have particularly restricted access to health care. In response to this, the pilot project for the general physician (GP) system for disabled people was implemented in 2018, based on the rights of people with disability to the Health Act in South Korea. However, its participants were 0.2% among the total of those with severe disabilities in 2021. Therefore, this study examined the factors related to registering with a GP and the access level to its services to suggest implications for activating the participation of disabled people. Methods: We analyzed factors affecting the registration with a GP and the number of using the services among the participants of the GP system during May 2018 and December 2021 by conducting hierarchical logistic regression and hierarchical regression. The data were linked with the national health insurance data to examine various predictors, including disability types, socioeconomic status, health status, and GP registration. Results: As a result of analyzing the factors affecting whether or not to register for the pilot project, those with disabilities (physical disabilities, brain lesions, visual, intellectual, mental, and autistic disability) eligible for disability care (odds ratio [OR], 4.157) than other disability, and those living in metropolitan (OR, 4.330) or cities (OR, 3.332) than rural residences were highly likely to enroll the pilot study. Health-related variables also predicted the registration status of the pilot project. The predictors related to GP enrollment types (membership type: general health or disability care, GP's affiliation: clinics or hospitals) significantly influenced levels of access to services. Conclusion: It is necessary to develop the GP project for disabled people by considering the variation in types of disability, residences, and health. Further study will be needed to investigate the impact of GPs on the level of participation among disabled people.

• Journal of the Korean Society of Radiology
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• v.18 no.1
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• pp.45-52
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• 2024

In this study, an AI-based algorithm was developed to prevent image quality deterioration and reading errors due to patient movement in PET/CT examinations that use radioisotopes in medical institutions to test cancer and other diseases. Using the Mothion Free software developed using, we checked the degree of correction of movement due to breathing, evaluated its usefulness, and conducted a study for clinical application. The experimental method was to use an RPM Phantom to inject the radioisotope 18F-FDG into a vacuum vial and a sphere of a NEMA IEC body Phantom of different sizes, and to produce images by directing the movement of the radioisotope into a moving lesion during respiration. The vacuum vial had different degrees of movement at different positions, and the spheres of the NEMA IEC body Phantom of different sizes produced different sizes of lesions. Through the acquired images, the lesion volume, maximum SUV, and average SUV were each measured to quantitatively evaluate the degree of motion correction by Motion Free. The average SUV of vacuum vial A, with a large degree of movement, was reduced by 23.36 %, and the error rate of vacuum vial B, with a small degree of movement, was reduced by 29.3 %. The average SUV error rate at the sphere 37mm and 22mm of the NEMA IEC body Phantom was reduced by 29.3 % and 26.51 %, respectively. The average error rate of the four measurements from which the error rate was calculated decreased by 30.03 %, indicating a more accurate average SUV value. In this study, only two-dimensional movements could be produced, so in order to obtain more accurate data, a Phantom that can embody the actual breathing movement of the human body was used, and if the diversity of the range of movement was configured, a more accurate evaluation of usability could be made.

• The Journal of the Acoustical Society of Korea
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• v.28 no.6
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• pp.534-541
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• 2009

Word recognition test (WRT) for the children can be useful for diagnosing the degree of communication disability, prescribing hearing instruments, planning aural rehabilitation and speech therapy, and determination of site of lesions. The Korean standard monosyllabic word lists for preschoolers (KS-MWL-P) were developed considering the criteria given by the literatures. However, the authors of KS-MWL-P suggested more children should be included to verify homogeneity of the lists using psychometric function curve since only 8 children participated in the developing process. The purpose of this study was to explore the homogeneity of KS-MWL-P for supplementing the limitations of the lists employing psychometric analysis. To 23 preschoolers who have normal-hearing, 100 monosyllabic KS-MWL-P words were examined with the pictures. Psychometric function curve with linear slopes of 20% and 80%'s correct rates through accounting recognition scores of each monosyllabic word at variable intensities from -10 to 40 dBHL was obtained and analyzed. As a result, s-shaped psychometric function curve was presented with increasing correct rate depending on intensity and showed no statistical significant differences among each word and list. The congruous graph shapes among lists also indicated good homogeneity and the list 1,2,3,4's average slopes were 4.48, 3.86, 4.65, 4.50. It was verified that the homogeneity was suitable because the analysis of variance showed no statistical significance among lists (p>0.05). However, KS-MWL-P's order of slope according to the order of the number of items, $1{\sim}10$, $1{\sim}20$, $1{\sim}25$ showed no difference with the p-value of 0.93, 0.59, 0.91, 0.70 for the lists 1,2,3, and 4, respectively. Although KS-MWL-P was assumed that the lower-numbered items were easy for testing younger ages, this study's results could not agree with the author's conclusion. Considering this matter, rearranging of the number of items should be performed according to the analysis of slope suggested by this study for testing younger children with easier items. Other than this, in conclusion, KS-MWL-P was proved to be useful for clinical and rehabilitative evaluating and training tools for preschoolers.

• 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.

• Journal of the Korean Society of Radiology
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• v.83 no.2
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• pp.344-359
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• 2022

Purpose To develop a denoising convolutional neural network-based image processing technique and investigate its efficacy in diagnosing breast cancer using low-dose mammography imaging. Materials and Methods A total of 6 breast radiologists were included in this prospective study. All radiologists independently evaluated low-dose images for lesion detection and rated them for diagnostic quality using a qualitative scale. After application of the denoising network, the same radiologists evaluated lesion detectability and image quality. For clinical application, a consensus on lesion type and localization on preoperative mammographic examinations of breast cancer patients was reached after discussion. Thereafter, coded low-dose, reconstructed full-dose, and full-dose images were presented and assessed in a random order. Results Lesions on 40% reconstructed full-dose images were better perceived when compared with low-dose images of mastectomy specimens as a reference. In clinical application, as compared to 40% reconstructed images, higher values were given on full-dose images for resolution (p < 0.001); diagnostic quality for calcifications (p < 0.001); and for masses, asymmetry, or architectural distortion (p = 0.037). The 40% reconstructed images showed comparable values to 100% full-dose images for overall quality (p = 0.547), lesion visibility (p = 0.120), and contrast (p = 0.083), without significant differences. Conclusion Effective denoising and image reconstruction processing techniques can enable breast cancer diagnosis with substantial radiation dose reduction.

• Korean Journal of Radiology
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• v.25 no.1
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• pp.11-23
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• 2024

Objective: To investigate whether reader training improves the performance and agreement of radiologists in interpreting unenhanced breast magnetic resonance imaging (MRI) scans using diffusion-weighted imaging (DWI). Materials and Methods: A study of 96 breasts (35 cancers, 24 benign, and 37 negative) in 48 asymptomatic women was performed between June 2019 and October 2020. High-resolution DWI with b-values of 0, 800, and 1200 sec/mm² was performed using a 3.0-T system. Sixteen breast radiologists independently reviewed the DWI, apparent diffusion coefficient maps, and T1-weighted MRI scans and recorded the Breast Imaging Reporting and Data System (BI-RADS) category for each breast. After a 2-h training session and a 5-month washout period, they re-evaluated the BI-RADS categories. A BI-RADS category of 4 (lesions with at least two suspicious criteria) or 5 (more than two suspicious criteria) was considered positive. The per-breast diagnostic performance of each reader was compared between the first and second reviews. Inter-reader agreement was evaluated using a multi-rater κ analysis and intraclass correlation coefficient (ICC). Results: Before training, the mean sensitivity, specificity, and accuracy of the 16 readers were 70.7% (95% confidence interval [CI]: 59.4-79.9), 90.8% (95% CI: 85.6-94.2), and 83.5% (95% CI: 78.6-87.4), respectively. After training, significant improvements in specificity (95.2%; 95% CI: 90.8-97.5; P = 0.001) and accuracy (85.9%; 95% CI: 80.9-89.8; P = 0.01) were observed, but no difference in sensitivity (69.8%; 95% CI: 58.1-79.4; P = 0.58) was observed. Regarding inter-reader agreement, the κ values were 0.57 (95% CI: 0.52-0.63) before training and 0.68 (95% CI: 0.62-0.74) after training, with a difference of 0.11 (95% CI: 0.02-0.18; P = 0.01). The ICC was 0.73 (95% CI: 0.69-0.74) before training and 0.79 (95% CI: 0.76-0.80) after training (P = 0.002). Conclusion: Brief reader training improved the performance and agreement of interpretations by breast radiologists using unenhanced MRI with DWI.

• Journal of the Korean Society of Radiology
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• v.82 no.6
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• pp.1493-1504
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• 2021

Purpose This study aimed to evaluate the utility of the 16-cm axial volume scan technique for calculating the coronary artery calcium score (CACS) using non-enhanced chest CT. Materials and Methods This study prospectively enrolled 20 participants who underwent both, non-enhanced chest CT (16-cm-coverage axial volume scan technique) and calcium-score CT, with the same parameters, differing only in slice thickness (in non-enhanced chest CT = 0.625, 1.25, 2.5 mm; in calcium score CT = 2.5 mm). The CACS was calculated using the conventional Agatston method. The difference between the CACS obtained from the two CT scans was compared, and the degree of agreement for the clinical significance of the CACS was confirmed through sectional analysis. Each calcified lesion was classified by location and size, and a one-to-one comparison of non-contrast-enhanced chest CT and calcium score CT was performed. Results The correlation coefficients of the CACS obtained from the two CT scans for slice thickness of 2.5, 1.25, and 0.625 mm were 0.9850, 0.9688, and 0.9834, respectively. The mean differences between the CACS were -21.4% at 0.625 mm, -39.4% at 1.25 mm, and -76.2% at 2.5 mm slice thicknesses. Sectional analysis revealed that 16 (80%), 16 (80%), and 13 (65%) patients showed agreement for the degree of coronary artery disease at each slice interval, respectively. Inter-reader agreement was high for each slice interval. The 0.625 mm CT showed the highest sensitivity for detecting calcified lesions. Conclusion The values in the non-contrast-enhanced chest CT, using the 16-cm axial volume scan technique, were similar to those obtained using the CACS in the calcium score CT, at 0.625 mm slice thickness without electrocardiogram gating. This can ultimately help predict cardiovascular risk without additional radiation exposure.

• Journal of the Korean Society of Radiology
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• v.84 no.2
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• pp.398-408
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• 2023

Purpose This study aimed to evaluate the radiological and clinical characteristics of benign adenomyoepitheliomas of the breast. Materials and Methods Over the last 20 years, 120 patients were histologically diagnosed with breast adenomyoepithelioma (AME) at our institution. We excluded 43 patients who were incidentally diagnosed during mastectomy for breast cancer, 28 who underwent percutaneous biopsy without further excision, and 8 who had biopsy-confirmed benign AME and were found to have another pathology after complete excision. We retrospectively reviewed the clinical records and radiological findings of the remaining 41 patients with histologically diagnosed benign breast AMEs after complete excision. Results All 41 patients underwent US; 38 underwent mammography (MG) and US; and 18 underwent MG, US, and MRI. MG detected 38 cases with a round or oval shape (56%), and mass (89%), were non-circumscribed (62%), hyperdense (53%), and without microcalcifications (95%). Breast US revealed suspicious masses (98%) with a non-circumscribed margin (66%), hypoechogenicity (43%), and intratumoral vascularity (63%). All lesions on breast MRI showed suspicious masses (100%) with ill-defined margins (61%), and 84% showed wash-out kinetics. Benign AMEs showed suspicious features of Breast Imaging Reporting and Data System (BI-RADS) category 4 or 5 in 83%-95% of the MG, US, and MRI. Sixteen of the 41 cases were misdiagnosed on the initial core needle biopsy and two were diagnosed as malignancy. Conclusion Benign breast AME often shows suspicious radiological features mimicking a malignant mass on MG, US, and MRI. Differentiating benign AME from other pathologies might be difficult on core needle biopsy, and complete excision is needed for a correct diagnosis.