• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.55-62
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• 2020

A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

• Journal of Life Science
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• v.32 no.7
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• pp.532-541
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• 2022

Obesity induced by high-fat diet (HFD) is verified as a strong risk factor and negative prognostic factor for prostate cancer in several genetically engineered mice although it was not examined in the normal mice. To investigate whether HFD-induced obesity can affect the development and progression of cancer in the prostate of normal mice, alterations in the weight and histological structure of the prostate as well as the expression of cancer-related proteins were analyzed in obese C57BL/6N mice fed with 60% HFD for 16 weeks. First, HFD-induced obesity, including an increase in organ weight, body weight, fat accumulation, and serum lipid profile, was successfully induced in C57BL/6N mice after HFD treatment. The total weight of the prostate significantly increased HFD-induced obesity in the model mice compared with the control group. Among the four lobes of the prostate, the weight of the ventral prostate (VP) and anterior prostate (AP) were higher in HFD-induced obesity model mice than in the control group, although the weights of the lateral prostate (DLP) and seminal vesicle (SV) were constantly maintained. In addition, the incidences of hyperplasia and non-hodgkin's lymphoma (NHL) in the histological structure were remarkably increased in HFD-induced obesity model mice, while the epithelial thickness was higher in the same group. A significant increase in the phosphorylation levels of key proteins in the AKT (protein kinase B) signaling pathway was detected in HFD-induced obesity model mice. Therefore, these results suggest that HFD-induced obesity can promote hyperplasia and NHL in the prostates of C57BL/6N mice through the activation of the AKT signaling pathway.

• BMB Reports
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• v.57 no.2
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• pp.110-115
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• 2024

Alterations in DNA methylation play an important pathophysiological role in the development and progression of colorectal cancer. We comprehensively profiled DNA methylation alterations in 165 Korean patients with colorectal cancer (CRC), and conducted an in-depth investigation of cancer-specific methylation patterns. Our analysis of the tumor samples revealed a significant presence of hypomethylated probes, primarily within the gene body regions; few hypermethylated sites were observed, which were mostly enriched in promoter-like and CpG island regions. The CpG Island Methylator Phenotype-High (CIMP-H) exhibited notable enrichment of microsatellite instability-high (MSI-H). Additionally, our findings indicated a significant correlation between methylation of the MLH1 gene and MSI-H status. Furthermore, we found that the CIMP-H had a higher tendency to affect the right-side of the colon tissues and was slightly more prevalent among older patients. Through our methylome profile analysis, we successfully verified the methylation patterns and clinical characteristics of Korean patients with CRC. This valuable dataset lays a strong foundation for exploring novel molecular insights and potential therapeutic targets for the treatment of CRC.

• The Journal of Korean Society for Radiation Therapy
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• v.32
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• pp.93-109
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• 2020

Purpose: The radiochromic film (Gafchromic EBT3, Ashland Advanced Materials, USA) and 3-dimensional analysis system dosimetry checkTM (DC, MathResolutions, USA) were evaluated for patient-specific quality assurance (QA) of helical tomotherapy. Materials and Methods: Depending on the tumors' positions, three types of targets, which are the abdominal tumor (130.6㎤), retroperitoneal tumor (849.0㎤), and the whole abdominal metastasis tumor (3131.0㎤) applied to the humanoid phantom (Anderson Rando Phantom, USA). We established a total of 12 comparative treatment plans by the four geometric conditions of the beam irradiation, which are the different field widths (FW) of 2.5-cm, 5.0-cm, and pitches of 0.287, 0.43. Ionization measurements (1D) with EBT3 by inserting the cheese phantom (2D) were compared to DC measurements of the 3D dose reconstruction on CT images from beam fluence log information. For the clinical feasibility evaluation of the DC, dose reconstruction has been performed using the same cheese phantom with the EBT3 method. Recalculated dose distributions revealed the dose error information during the actual irradiation on the same CT images quantitatively compared to the treatment plan. The Thread effect, which might appear in the Helical Tomotherapy, was analyzed by ripple amplitude (%). We also performed gamma index analysis (DD: 3mm/ DTA: 3%, pass threshold limit: 95%) for pattern check of the dose distribution. Results: Ripple amplitude measurement resulted in the highest average of 23.1% in the peritoneum tumor. In the radiochromic film analysis, the absolute dose was on average 0.9±0.4%, and gamma index analysis was on average 96.4±2.2% (Passing rate: >95%), which could be limited to the large target sizes such as the whole abdominal metastasis tumor. In the DC analysis with the humanoid phantom for FW of 5.0-cm, the three regions' average was 91.8±6.4% in the 2D and 3D plan. The three planes (axial, coronal, and sagittal) and dose profile could be analyzed with the entire peritoneum tumor and the whole abdominal metastasis target, with planned dose distributions. The dose errors based on the dose-volume histogram in the DC evaluations increased depending on FW and pitch. Conclusion: The DC method could implement a dose error analysis on the 3D patient image data by the measured beam fluence log information only without any dosimetry tools for patient-specific quality assurance. Also, there may be no limit to apply for the tumor location and size; therefore, the DC could be useful in patient-specific QAl during the treatment of Helical Tomotherapy of large and irregular tumors.