1.Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode with m.3243A>G variant involving the cerebellum and basal ganglia
Chungmo KOO ; Jaejin YANG ; Jeong Rye KIM ; Jeesuk YU
Journal of Genetic Medicine 2024;21(1):36-40
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is a maternally inherited mitochondrial disorder that usually affects the cerebral cortex and prevents high-energy demands from being met. Herein, we present the case of a male patient who rapidly developed multiple seizures, headaches, and altered mentality accompanied by severe metabolic acidosis and lactic acidosis. Initially, a brain imaging study confirmed stroke-like lesions (SLLs) only in the cerebellum. During follow-up, newly developed SLLs with lactic acidosis were observed in the basal ganglia (BG), cerebellum, and occipital lobe. The m.3243A>G variant had been found in the patient and MELAS was diagnosed, despite the BG and cerebellum being atypical locations for SLLs in MELAS. Since most cases of m.3243A>G variant MELAS show SLLs in the cerebral cortex, this case is unusual considering the location of the lesion. We emphasize that in the case of lactic acidosis accompanied by neurological symptoms, such as seizures, as in this case, MELAS should be included in the differential diagnosis, even if SLLs are observed in areas other than the cerebral cortex.
2.Evaluation of iNSiGHT VET DXA (Dual-Energy X-ray Absorptiometry) for assessing body composition in obese rats fed with high fat diet: a follow-up study of diet induced obesity model for 8 weeks
Jungyun YEU ; Han Jik KO ; Doyeun KIM ; Youngbok AHN ; Jaejin KIM ; Wonhee LEE ; IlSin JUNG ; Jungkyu SUH ; Seok Jong LEE
Laboratory Animal Research 2019;35(1):2-8
We examined the precision, accuracy, and capability of detecting changes of Dual-Energy X-ray Absorptiometry (DXA) for the measurements of total-body weight (TBW), total-body fat weight (TBFW), and total-body lean weight (TBLW) in an 8-week follow-up study of rats. Twenty male rats (4-week) were divided into 2 diet groups. For 8 weeks, we measured body composition (TBW, TBFW, TBLW) by DXA and TBW by an electronic scale once a week. In week 8, we measured body composition 5 times by DXA and TBFW by dissecting experiment (EXP) of euthanized rats (12-week). Total-body fat ratio (TBFR) was defined as TBFW/(TBFW+TBLW). The precision of DXA was evaluated by measuring the coefficient of variation (CV) and accuracy was evaluated by comparing DXA-derived data with EXP data. The capability of detecting changes of DXA in follow-up study was verified by analyzing the trend of DXA-derived values over the 8 weeks. For TBW, TBFW, TBLW of DXA, CVs were 0.02 ± 0.01, 0.10 ± 0.05, 0.03 ± 0.02 and errors were − 6.996 ± 3.429 (r = 0.999), + 14.729 ± 3.663 (r = 0.982), − 21.725 ± 4.223 (r = 0.991), respectively. Prediction models were [EXP TBW = − 31.767 + 1.085 (DXA TBW), R2 = 0.998, root mean square error (RMSE) = 1.842] and [EXP TBFR = − 0.056 + 1.177 (DXA TBFR), R2 = 0.948, RMSE = 0.007]. Over 8 weeks, DXA TBW and DXA TBLW steadily increased, DXA TBFW steadily increased followed by saturation or declination, difference of DXA TBFW between 2 diet groups steadily increased. In conclusion, our study verified that DXA (iNSiGHT VET DXA, OsteoSys, Korea) is accurate and precise enough to measure body composition of rats. Additionally, we confirmed the possibility that DXA could be used for the long-term follow-up studies.
Absorptiometry, Photon
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Animals
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Body Composition
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Diet
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Diet, High-Fat
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Follow-Up Studies
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Humans
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Male
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Obesity
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Rats
3.Ultrasonographic Usefulness for Diagnosis of Acetabular Labral Tear.
Pil Sung KIM ; Heung Tae JUNG ; Yoo Sun JEON ; Mun Jong LEE ; Yoojin Jaejin PARK ; Deuk Soo HWANG
Hip & Pelvis 2013;25(3):189-196
PURPOSE: This study evaluated the usefulness of ultrasonography for a diagnosis of acetabular labral tear in femoroacetabular impingement (FAI). MATERIALS AND METHODS: From March 2010 to October 2011, an ultrasonographic examination was performed in 58 patients(58 hips: 26 men and 32 women) with acetabular labral tear. The sensitivity and positive predictive value of ultrasonography were evaluated for 58 cases with acetabular labral tear confirmed by hip arthroscopy. RESULTS: The sensitivity and positive predictive value for an acetabular labral tear using ultrasonography was 89.6% and 100%, respectively. The concordance rate of an acetabular labral tear between arthroscopy and ultrasonography was 84.6%. CONCLUSION: Hip ultrasonography can make a significant contribution to a pathologic diagnosis and isa useful diagnostic tool for acetabular labral tears.
Arthroscopy
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Femoracetabular Impingement
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Hip
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Humans
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Male
4.Outcomes of Off-Pump Coronary Bypass Grafting with the Bilateral Internal Thoracic Artery for Left Ventricular Dysfunction.
Suryeun CHUNG ; Wook Sung KIM ; Dong Seop JEONG ; Jaejin LEE ; Young Tak LEE
Journal of Korean Medical Science 2014;29(1):69-75
This study evaluated the outcomes of off-pump coronary artery bypass surgery (OPCAB) with severe left ventricular dysfunction using composite bilateral internal thoracic artery grafting. From January 2001 to December 2008, 1,842 patients underwent primary isolated OPCAB with composite bilateral internal thoracic artery grafting. A total of 131 of these patients were diagnosed with a severely depressed preoperative left ventricle ejection fraction (LVEF) (< or =0.35). These patient outcomes were compared with the outcomes of 830 patients that had mildly or moderately depressed LVEF (0.36 to 0.59) and 881 patients with normal LVEF (>0.6). The early mortality for patients with severe LVEF was 2.3%. The 3-yr and 7-yr survival rate for patients with severe LV dysfunction was 86.0% and 82.8%, respectively. Multivariate analysis showed that severe LV dysfunction EF increased the risk of all-cause death (P=0.012; hazard ratio [HR],2.14; 95% confidence interval [CI],1.19-3.88) and the risk of cardiac-related death (P=0.008; HR,3.38; 95% CI, 1.37-8.341). The study identified positive surgical outcomes of OPCAB, although severe LVEF was associated with two-fold increase in mortality risk compared with patients who had normal LVEF.
Coronary Artery Bypass, Off-Pump/methods/*mortality
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Female
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Heart
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Humans
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Male
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Mammary Arteries/*transplantation
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Middle Aged
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Retrospective Studies
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Stroke Volume
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Survival Rate
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Treatment Outcome
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Vascular Grafting/methods/*mortality
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Ventricular Dysfunction, Left/mortality/*surgery
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Ventricular Function, Left
5.A Comparative Genome-Wide Analysis of GATA Transcription Factors in Fungi.
Jongsun PARK ; Hyojeong KIM ; Soonok KIM ; Sunghyung KONG ; Jaejin PARK ; Seryun KIM ; Hyea young HAN ; Bongsoo PARK ; Kyongyong JUNG ; Yong Hwan LEE
Genomics & Informatics 2006;4(4):147-160
GATA transcription factors are widespread eukaryotic regulators whose DNA-binding domain is a class IV zinc finger motif in the form CX(2)CX(17-20)CX(2)C followed by a basic region. In fungi, they act as transcriptional activators or repressors in several different processes, ranging from nitrogen source utilization to mating-type switching. Using an in-house bioinformatics portal system, we surveyed 50 fungal and 9 out-group genomes and identified 396 putative fungal GATA transcription factors. The proportion of GATA transcription factors within a genome varied among taxonomic lineages. Subsequent analyses of phylogenetic relationships among the fungal GATA transcription factors, as well as a study of their domain architecture and gene structure, demonstrated high degrees of conservation in type IVa and type IVb zinc finger motifs and the existence of distinctive clusters at least at the level of subphylum. The SFH1 subgroup with a 20-residue loop was newly identified, in addition to six well-defined subgroups in the subphylum Pezizomycotina. Furthermore, a novel GATA motif with a 21-residue loop (CX(2)CX(21)CX(2)C, designated 'zinc finger type IVc') was discovered within the phylum Basidiomycota. Our results suggest that fungal GATA factors might have undergone multiple distinct modes of evolution resulting in diversified cellular modulation in fungi.
Basidiomycota
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Computational Biology
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Fingers
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Fungi*
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GATA Transcription Factors*
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Genome
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Nitrogen
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Portal System
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Zinc Fingers
6.Reference values of hematology, biochemistry, and blood type in cynomolgus monkeys from cambodia origin.
Kangmoo CHOI ; Jaejin CHANG ; Min Jae LEE ; Seungsu WANG ; Kimhong IN ; Wilhelm C GALANO-TAN ; Sanghun JUN ; Kahee CHO ; Yong Hwa HWANG ; Sung Ju KIM ; Wanje PARK
Laboratory Animal Research 2016;32(1):46-55
Cynomolgus monkeys as nonhuman primates are valuable animal models because they have a high level of human gene homology. There are many reference values for hematology and biochemistry of Cynomolgus monkeys that are needed for proper clinical diagnosis and biomedical research conduct. The body weight information and blood type are also key success factors in allogeneic or xenogeneic models. Moreover, the biological parameters could be different according to the origin of the Cynomolgus monkey. However, there are limited references provided, especially of Cambodia origin. In this study, we measured average body weight of 2,518 Cynomolgus monkeys and analyzed hematology and serum biochemistry using 119 males, and determined blood types in 642 monkeys with Cambodia origin. The average body weight of male Cynomolgus monkeys were 2.56±0.345 kg and female group was 2.43±0.330 kg at the age from 2 to 3 years. The male group showed relatively sharp increased average body weight from the 3 to 4 age period compared to the female group. In hematology and biochemistry, it was found that most of the data was similar when compared to other references even though some results showed differences. The ABO blood type result showed that type A, B, AB, and O was approximately 15.6, 33.3, 44.2, and 6.9%, respectively. The main blood type in this facility was B and AB. These biological background references of Cambodia origin could be used to provide important information to researchers who are using them in their biomedical research.
Biochemistry*
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Body Weight
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Cambodia*
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Diagnosis
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Female
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Haplorhini
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Hematology*
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Humans
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Macaca fascicularis*
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Male
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Models, Animal
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Primates
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Reference Values*
7.Characterization and Differentiation of Circulating Blood Mesenchymal Stem Cells and the Role of Phosphatidylinositol 3-Kinase in Modulating the Adhesion
Yoon Kyung PARK ; Seong Joo HEO ; Jai Young KOAK ; Gang Seok PARK ; Tae Jun CHO ; Seong Kyun KIM ; Jaejin CHO
International Journal of Stem Cells 2019;12(2):265-278
Bone marrow mesenchymal stem cells (BM MSCs) can differentiate into multi-lineage tissues. However, obtaining BM MSCs by aspiration is difficult and can be painful; therefore peripheral blood (PB) MSCs might provide an easier alternative for clinical applications. Here, we show that circulating PB MSCs proliferate as efficiently as BM MSCs in the presence of extracellular matrix (ECM) and that differentiation potential into osteoblast in vitro and in vivo. Both BM MSCs and PB MSCs developed into new bone when subcutaneously transplanted into immune-compromised mice using hydroxyapatite/tricalcium phosphate as a carrier. Furthermore, LY294002 and Wortmannin blocked mesenchymal stem cell attachment in a dose-dependent manner, suggesting a role of phosphatidylinositol 3-kinase in MSC attachment. Our data showed that the growth of PB MSCs could be regulated by interaction with the ECM and that these cells could differentiate into osteoblasts, suggesting their potential for clinical applications.
Animals
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Bone Marrow
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Extracellular Matrix
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In Vitro Techniques
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Mesenchymal Stromal Cells
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Mice
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Osteoblasts
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Phosphatidylinositol 3-Kinase
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Phosphatidylinositols