• Journal of Genetic Medicine
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• v.4 no.1
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• pp.72-79
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• 2007

Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.

• Journal of the Korean Society of Radiology
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• v.17 no.4
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• pp.607-614
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• 2023

Clear overlapping of the bilateral epicondyle and proper separation of the elbow joint are crucial for obtaining accurate lateral general radiographs of the elbow. However, due to the complex anatomical structure of the elbow, achieving optimal positioning is challenging, leading to the need for repeated x-ray examinations. Therefore, the purpose of this study was to investigate the angle of the forearm in patients where accurate lateral images of the elbow joint can't be obtained after vertical incidence using a styrofoam device during elbow joint lateral x-ray imaging. Twenty patients were enrolled in our study following the established protocol. First, a vertical x-ray at an angle of 0° between the forearm and the table was taken (control group). Here, if the lateral image of the elbow joint was deemed inadequate, the forearm angle was adjusted using custom-made styrofoam supports with 5° and 10° inclinations (experimental groups). For the evaluation method, two assessors utilized a 5-point Likert scale to assess the images. The reliability of the assessments was analyzed using Cronbach's alpha coefficient. As a result, patients with inadequate overlap of the bilateral epicondyle and separation of the elbow joint in the initial examination (control group) were able to obtain the best images when setting a 10° angle between the forearm and the table. The subjective evaluation was 1.6 ± 0.8 points at 0°, 2.7 ± 0.8 points at 5°, and 4.4 ± 1.3 points at 10°, respectively. The reliability analysis for the angles of 0°, 5°, and 10° yielded Cronbach's alpha values of 0.867, 0.697, and 0.922, respectively. In conclusion, when it is not possible to obtain accurate images using the conventional position and X-ray beam direction, it is considered that by initially acquiring images with an angle of 10° between the forearm and the table, and gradually decreasing the angle while obtaining images, it would be possible to achieve the optimal image while reducing the number of repeat examinations.

• Nuclear Medicine and Molecular Imaging
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• v.41 no.3
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• pp.241-246
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• 2007

Purpose: $[^{11}C]6-OH-BTA-1$ ([N-methyl-$^{11}C$]2-(4'-methylaminophenyl)-6-hydroxybenzothiazole, 1), a -amyloid imaging agent for the diagnosis of Alzheimer's disease in PET, can be labeled with higher yield by a simple loop method. During the synthesis of $[^{11}C]1$, we found the formation of by-products in various solvents, e.g., methylethylketone (MEK), cyclohexanone (CHO), diethylketone (DEK), and dimethylformamide (DMF). Materials and Methods: In Automated radiosynthesis module, 1 mg of 4-aminophenyl-6-hydroxybenzothiazole (4) in 100 l of each solvent was reacted with $[^{11}C]methyl$ triflate in HPLC loop at room temperature (RT). The reaction mixture was separated by semi-preparative HPLC. Aliquots eluted at 14.4, 16.3 and 17.6 min were collected and analyzed by analytical HPLC and LC/MS spectrometer. Results: The labeling efficiencies of $[^{11}C]1$ were $86.0{\pm}5.5%$, $59.7{\pm}2.4%$, $29.9{\pm}1.8%$, and $7.6{\pm}0.5%$ in MEK, CHO, DEK and DMF, respectively. The LC/MS spectra of three products eluted at 14.4, 16.3 and 17.6 mins showed m/z peaks at 257.3 (M+1), 257.3 (M+1) and 271.3 (M+1), respectively, indicating their structures as 1, 2-(4'-aminophenyl)-6-methoxybenzothiazole (2) and by-product (3), respectively. Ratios of labeling efficiencies for the three products $([^{11}C]1:[^{11}C]2:[^{11}C]3)$ were $86.0{\pm}5.5%:5.0{\pm}3.4%:1.5{\pm}1.3%$ in MEK, $59.7{\pm}2.4%:4.7{\pm}3.2%:1.3{\pm}0.5%$ in CHO, $9.9{\pm}1.8%:2.0{\pm}0.7%:0.3{\pm}0.1%$ in DEK and $7.6{\pm}0.5%:0.0%:0.0%$ in DMF, respectively. Conclusion: The labeling efficiency of $[^{11}C]1$ was the highest when MEK was used as a reaction solvent. As results of mass spectrometry, 1 and 2 were conformed. 3 was presumed.

• Journal of the Korean Society of Radiology
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• v.5 no.6
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• pp.401-407
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• 2011

The purpose of this study is to know the differences of MR spectra, obtained from normal volunteers by variable TE value, through the quantitative analysis of brain metabolites by peak integral and SNR between 1.5T and 3.0T, together with PRESS and STEAM pulse sequence. Single-voxel MR proton spectra of the human brain obtained from normal volunteers at both 3.0T MR system (Magnetom Trio, SIEMENS, Germany) and 1.5T MR system (Signa Twinspeed, GE, USA) using the STEAM and PRESS pulse sequence. 10 healthy volunteers (3.0T:3 males, 2 females; 1.5T : 3 males, 2 females) with the range from 22 to 30 years old (mean 26 years) participated in our study. They had no personal or familial history of neurological diseases and had a normal neurological examination. Data acquisition parameters were closely matched between the two field strengths. Spectra were recorded in the white matter of the occipital lobe. Spectra were compared in terms of resolution and signal-to-noise ratio(SNR), and echo time(TE) were estimated at both field strengths. Imaging parameters was used for acquisition of the proton spectrum were as follow : TR 2000msec, TE 30ms, 40ms, 50ms, 60ms, 90ms, 144ms, 288ms, NA=96, VOI=$20{\times}20{\times}20mm3$. As the echo times were increased, the spectra obtained from 3.0T and 1.5T show decreased peak integral and SNR at both pulse sequence. PRESS pulse sequence shows higher SNR and signal intensity than those of STEAM. Especially, Spectra in normal volunteers at 3.0T demonstrated significantly improved overall SNR and spectral resolution compared to 1.5T(Fig1). The spectra acquired at short echo time, 3T MR system shows a twice improvement in SNR compared to 1.5T MR system(Table. 1). But, there was no significant difference between 3.0Tand 1.5T at long TE It is concluded that PRESS and short TE is useful for quantification of the brain metabolites at 3.0T MRS, our standardized protocol for quantification of the brain metabolites at 3.0T MRS is useful to evaluate the brain diseases by monitoring the systematic changes of biochemical metabolites concentration in vivo.

• Childhood Kidney Diseases
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• v.12 no.2
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• pp.178-185
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• 2008

Purpose : Our aim was to investigate the predictive factors for detecting grade III-V vesicoureteral reflux(VUR) in young infants less than 3 months with urinary tract infections (UTI). Methods : Data of infants who underwent ultrasonography and VCUG between January 2004 and September 2007 were reviewed. Age, gender, incidence of bacteremia, C-reactive protein(CRP) and imaging studies were compared between group I(grade III-V VUR) and group II (normal or grade I and II VUR) retrospectively. Sensitivity, specificity, positive and negative predictive values, odds ratio, and likelihood ratio of ultrasonography for high grade VUR were evaluated. Results : Among 54 enrolled infants(41 males, 13 females), 14 infants were group I and 40 infants were group II. In the group I, CRP level was significantly higher(6.11$\pm$5.18 vs. 3.27$\pm$3.45, P=0.025), and there were more ultrasonographic abnormal findings(71.4%, vs. 22.5%, P=0.002) compared with group II. However, ultrasonography was the only significant factor after adjusting with logistic regression(P=0.002). Incidence of bacteremia and abnormal DMSA findings were not significantly different in two groups. Sensitivity, specificity, and odds ratio of ultrasonography was 71.4%, 77.5%, 6.9 respectively. Negative predictive value was 88.6% and negative likelihood ratio was 0.37. Ultrasonography had significant negative likelihood ratio for grade III-V VUR, but missed 4 infants with grade III VUR. Conclusion : We could not find any alternative predictive factors to reduce VCUG in detecting high grade VUR. Therefore, VCUG must be considered in young infants less than 3 months with UTI.

• Investigative Magnetic Resonance Imaging
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• v.12 no.1
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• pp.8-19
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• 2008

Purpose : To investigate the 3-bond and spatial connectivity of human brain metabolites by scalar coupling and dipolar nuclear Overhauser effect/enhancement (NOE) interaction through 2D- correlation spectroscopy (COSY) and 2D- NOE spectroscopy (NOESY) techniques. Materials and Methods : All 2D experiments were performed on Bruker Avance 500 (11.8 T) with the zshield gradient triple resonance cryoprobe at 298 K. Human brain metabolites were prepared with 10% $D_2O$. Two-dimensional spectra with 2048 data points contains 320 free induction decay (FID) averaging. Repetition delay was 2 sec. The Top Spin 2.0 software was used for post-processing. Total 7 metabolites such as N-acetyl aspartate (NAA), creatine (Cr), choline (Cho), lutamine (Gln), glutamate (Glu), myo-inositol (Ins), and lactate (Lac) were included for major target metabolites. Results : Symmetrical 2D-COSY and 2D-NOESY pectra were successfully acquired: COSY cross peaks were observed in the only 1.0-4.5 ppm, however, NOESY cross peaks were observed in the 1.0-4.5 ppm and 7.9 ppm. From the result of the 2-D COSY data, cross peaks between the methyl protons ($CH_3$(3)) at 1.33 ppm and methine proton (CH(2)) at 4.11 ppm were observed in Lac. Cross peaks between the methylene protons (CH2(3,$H{\alpha}$)) at 2.50ppm and methylene protons ($CH_2$,(3,$H_B$)) at 2.70 ppm were observed in NAA. Cross peaks between the methine proton (CH(5)) at 3.27 ppm and the methine proton (CH(4,6)) at 3.59 ppm, between the methine proton (CH(1,3)) at 3.53 ppm and methine proton (CH(4,6)) at 3.59 ppm, and between the methine proton (CH(1,3)) at 3.53 ppm and methine proton (CH(2)) at 4.05 ppm were observed in Ins. From the result of 2-D NOESY data, cross peaks between the NH proton at 8.00 ppm and methyl protons ($CH_3$) were observed in NAA. Cross peaks between the methyl protons ($CH_3$(3)) at 1.33 ppm and methine proton (CH(2)) at 4.11 ppm were observed in Lac. Cross peaks between the methyl protons (CH3) at 3.03 ppm and methylene protons (CH2) at 3.93 ppm were observed in Cr. Cross peaks between the methylene protons ($CH_2$(3)) at 2.11 ppm and methylene protons ($CH_2$(4)) at 2.35 ppm, and between the methylene protons($CH_2$ (3)) at 2.11 ppm and methine proton (CH(2)) at 3.76 ppm were observed in Glu. Cross peaks between the methylene protons (CH2 (3)) at 2.14 ppm and methine proton (CH(2)) at 3.79 ppm were observed in Gln. Cross peaks between the methine proton (CH(5)) at 3.27 ppm and the methine proton (CH(4,6)) at 3.59 ppm, and between the methine proton (CH(1,3)) at 3.53 ppm and methine proton (CH(2)) at 4.05 ppm were observed in Ins. Conclusion : The present study demonstrated that in vitro 2D-COSY and NOESY represented the 3-bond and spatial connectivity of human brain metabolites by scalar coupling and dipolar NOE interaction. This study could aid in better understanding the interactions between human brain metabolites in vivo 2DCOSY study.