• Journal of the Korean Society of Radiology
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• v.81 no.2
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• pp.302-309
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• 2020

Fabry disease is a rare X-linked metabolic disorder that is characterized by the accumulation of glycosphingolipids in various organs, resulting from the deficiency of alpha-galactosidase A. Cardiac involvement is relatively common; myocardial inflammation, left ventricular hypertrophy, and myocardial fibrosis secondary to abnormal lipid deposition in myocytes are often observed. Hence, the diagnosis of cardiac involvement is crucial for evaluating patient prognosis. Cardiac MRI is the standard technique for measuring the function, volume, and mass of the ventricles. It is also useful for myocardial tissue characterizations. The evaluation of native myocardial T1 values can facilitate early diagnosis of cardiac involvement, while measurements of left ventricular myocardial mass can be used to monitor treatment outcomes, in patients with Fabry disease. Consequently, cardiac MRI can provide useful information for diagnosing, monitoring, and treating patients with Fabry disease.

• Journal of the Korean Society of Radiology
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• v.83 no.5
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• pp.1153-1159
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• 2022

Dolichoectasia is an uncommon disorder characterized by the presence of a dilated, elongated, and tortuous cerebral artery. Its main pathologic mechanism is the disruption of the internal elastic lamina. Risk factors for dolichoectasia are advanced age, chronic hypertension, and metabolic disease. It mainly involves the vertebrobasilar vasculature (or "posterior circulation"), but dolichoectasia can also be seen in the anterior circulation, particularly the anterior cerebral artery. There are no reported cases of dolichoectasia involving both anterior and posterior circulation in South Korea. Here we report an unusual case of dolichoectasia involving both anterior and posterior circulation in a young female without any underlying disease on the basis of prominent imaging findings.

• The Korean Journal of Physiology and Pharmacology
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• v.28 no.4
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• pp.335-344
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• 2024

Diphenyleneiodonium (DPI) has been widely used as an inhibitor of NADPH oxidase (Nox) to discover its function in cardiac myocytes under various stimuli. However, the effects of DPI itself on Ca²⁺ signaling and contraction in cardiac myocytes under control conditions have not been understood. We investigated the effects of DPI on contraction and Ca²⁺ signaling and their underlying mechanisms using video edge detection, confocal imaging, and whole-cell patch clamp technique in isolated rat cardiac myocytes. Application of DPI suppressed cell shortenings in a concentration-dependent manner (IC₅₀ of ≅0.17 µM) with a maximal inhibition of ~70% at ~100 µM. DPI decreased the magnitude of Ca²⁺ transient and sarcoplasmic reticulum Ca²⁺ content by 20%-30% at 3 µM that is usually used to remove the Nox activity, with no effect on fractional release. There was no significant change in the half-decay time of Ca²⁺ transients by DPI. The L-type Ca²⁺ current (I_Ca) was decreased concentration-dependently by DPI (IC₅₀ of ≅40.3 µM) with ≅13.1%-inhibition at 3 µM. The frequency of Ca²⁺ sparks was reduced by 3 µM DPI (by ~25%), which was resistant to a brief removal of external Ca²⁺ and Na⁺. Mitochondrial superoxide level was reduced by DPI at 3-100 µM. Our data suggest that DPI may suppress L-type Ca²⁺ channel and RyR, thereby attenuating Ca²⁺-induced Ca²⁺ release and contractility in cardiac myocytes, and that such DPI effects may be related to mitochondrial metabolic suppression.

• Hip & pelvis
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• v.36 no.1
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• pp.1-11
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• 2024

Gout is triggered by the accumulation of uric acid in the body, leading to hyperuricemia. Genetic, metabolic, and environmental factors can influence this condition. Excessive uric acid buildup results in the formation of monosodium urate (MSU) crystals, which precipitate in specific areas of the body, including the joints, where they can cause symptoms of gout. While the acute and chronic symptoms of gout have been well-documented, diagnosis of gout affecting the hip joint poses significant challenges. The global incidence of gout, the most prevalent form of inflammatory arthritis, is on the rise. Evaluation of the clinical signs, laboratory results, and imaging results is generally required for diagnosis of gout in cases where MSU crystals have not been detected. Hyperuricemia is considered a primary cause of arthritis symptoms, and comprehensive guidelines for treatment are available. Therefore, the choice of medication is straightforward, and moderate effectiveness of treatment has been demonstrated. Gout is a chronic disease, requiring lifelong uric acid-lowering medications, thus application of a treatment strategy based on the target blood uric acid concentration is necessary. Consequently, cases of gout will likely be observed more frequently by hip surgeons in clinical scenarios in the future. The objective of this review is to provide an overview of the pathophysiology of gout and subsequently examine recent advances in diagnostic methods and therapeutic agents based on an understanding of its underlying mechanisms. In addition, literature on gout-related issues affecting the hip joint, providing a useful reference for hip surgeons is examined.

• Investigative Magnetic Resonance Imaging
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• v.6 no.1
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• pp.64-72
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• 2002

Purpose : To introduce and demonstrate the advantages of the new hybrid two-dimensional (2D) proton spectroscopic imaging (SI) over the single voxel spectroscopy (SVS) and conventional 2D SI in the clinical application of spectroscopy for pediatric cerebral disease. Materials and Methods : Eighty-one hybrid 2D proton spectroscopic imaging was performed in 79 children (36 normal infants and children, 10 with hypoxic-ischemic injury, 20 with toxic-metabolic encephalopathy, seven with brain tumor, three with meningoencephalitis, one with neurofibromatosis, one with Sturge-Weber syndrome and one with lissencephaly) ranging in age from the third day of life to 15 years. In adult volunteers (n=5), all three techniques including hybrid 2D proton SI, SVS using PRESS sequence, and conventional 2D proton SI were performed. Both hybrid 2D proton SI and SVS using PRESS sequence were performed in clinical cases (n=). All measurements were performed with a 1.5-T scanner using standard head quadrature coil. The 16$\times$16 phase encoding steps were set on variable field of view (FOV) depending on the size of the brain. The hybrid volume of interest inside FOV was set as $75{\times}75{\times}15{\;}\textrm{mm}^3$ or smaller to get rid of unwanted fat signal. Point-resolved spectroscopy (TR/TE=1,500 msec/135 or 270msec) was employed with standard chemical shift selective saturation (CHESSI pulses for water suppression. The acquisition time and spectral quality of hybrid 2D proton SI were compared with those of SVS and conventional 2D proton SI. Results : The hybrid 2D proton SI was successfully conducted upon all patients.

• The Journal of the Korean bone and joint tumor society
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• v.20 no.2
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• pp.66-73
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• 2014

Purpose: Various diagnostic imaging modalities have been used to evaluate the effect of neoadjuvant chemotherapy for osteosarcoma early and noninvasively. We evaluated the effectiveness of imaging studies of plain radiographs and positron-emission tomography/computed tomography (PET/CT) in predicting neoadjuvant chemotherapy effect for osteosarcoma and tried to establish a general principle in interpretation of PET/CT parameters. Materials and Methods: Eighteen patients who underwent two cycles of neoadjuvant chemotherapy and surgical excision for osteosarcoma were enrolled. There were 13 males and 5 females, with a median age of 19 (11-63) years. Fifteen patients of 18 had the American Joint Committe on Cancer (AJCC) stage IIB. They had plain radiographs and PET/CT before and after neoadjuvant chemotherapy. The resected tumor specimens were pathologically examined to determine histological response grade using a conventional mapping method. Statistical analysis was performed to evaluate the correlation between histopathological necrosis rate, and radiographic finding category, post-chemotherapy maximum standardized uptake value (SUVmax), average standardized uptake value and metabolic tumor volume (MTV) as well as reduction rates of them. Results: Eight patients were good responders to neoadjuvant chemotherapy based on histological evaluation. Median SUVmax reduction rate was 73 (23-77) % in good responders and 42 (-32-76) % in poor responders. Median MTV reduction rate was 93.5 (62-99) % in good responders and 46 (-81-100) % in poor responders. While radiographic finding category was not different according to histological response (p=1.0), SUVmax reduction rate was significantly different (p=0.041). Difference in MTV reduction rates approached statistical significance as well (p=0.071). Conclusion: While radiographic finding category was not reliable to assess neoadjuvant chemotherapy effect for osteosarcoma, reduction rate of SUVmax was a useful indicator in this study. As parameters of PET/CT can be influenced by various factors of settings, different centers have to make an effort to establish their own standard of judgement with reference of previous studies.

• Nuclear Medicine and Molecular Imaging
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• v.41 no.4
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• pp.280-290
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• 2007

Purpose: Gender differences in personality are considered to have biological bases. In an attempt to understand the gender differences of personality on neurobiological bases, we conducted correlation analyses between regional brain glucose metabolism and temperament factors of personality in males and females. Materials and Methods: Thirty-six healthy right-handed volunteers (18 males, 33.8$\pm$17.6 y; 18 females, 36.2$\pm$20.4 y) underwent FDG PET at resting state. Three temperament factors of personality (novelty seeking (NS), harm avoidance (HA), reward dependence (RD)) were assessed using Cloninger's 240-item Temperament and Character Inventory (TCD within 10 days of FOG PET scan. Correlation between regional glucose metabolism and each temperament factor was tested using SPM2. Results: In males, a significant negative correlation between NS score and glucose metabolism was observed in the bilateral superior temporal gyri, the hippocampus and the insula, while it was found in the bilateral middle frontal gyri, the right superior temporal gyrus and the left cingulate cortex and the putamen in females. A positive HA correlation was found in the right midbrain and the left cingulate gyrus in males, but in the bilateral basal ganglia in females. A negative RD correlation was observed in the right middle frontal and the left middle temporal gyri in males, while the correlation was found in the bilateral middle frontal gyri and the right basal ganglia and the superior temporal gyrus in females. Conclusion: These data demonstrate different cortical and subcortical metabolic correlates of temperament factors of personality between males and females. These results may help understand biological substrate of gender differences in personality and susceptibility to neuropsychiatric illnesses.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.48-54
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• 2017

Purpose: Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal-recessive disorder characterized by early-onset hypotonia associated with brain malformations in dystroglycanopathy. Although the wide spectrum of congenital muscular dystrophies causes difficulty in diagnosis, correlating the genotype with the clinical phenotype can help diagnose FCMD. Here, we evaluated the correlation of targeted molecular genetic analysis of FKTN gene mutation with the FCMD phenotype. Methods: This study was conducted retrospectively with 9 subjects. Inclusion criteria included clinical symptoms characterized by early-onset hypotonia with magnetic resonance imaging (MRI) featuring brain malformations. FKTN gene-alteration analysis was performed using various FKTN gene-analysis methods, including sequencing. Results: Among the 9 subjects studied, 4 (44.4%) were male and 5 (55.6%) were female. The median age of onset of the first symptom was 3.1 months. The first symptom was a delayed milestone in 6 cases (66.7%). All 9 subjects (100%) presented with early-onset hypotonia and global delayed development. All subjects presented with cortical malformation in their brain MRIs. Of the 9 subjects, 6 subjects had previously undergone muscle biopsy and 4 cases (4/6; 66.7%) showed dystrophic or myopathic features. Pathogenic mutations causing FCMD were identified in 3 cases. Conclusions: In this study, all 3 subjects with FKTN mutations showed important MRI findings (pachygyria and cerebellar dysplasia). These data suggest that patients with characteristic phenotypes who show pachygyria and cerebellar abnormalities in brain MRIs may have a high probability of being diagnosed with FCMD.

• The Korean Journal of Nuclear Medicine
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• v.32 no.4
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• pp.332-343
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• 1998

Purpose: The purpose of this study was to assess the diagnostic accuracy of various quantitation methods using F-18-fluorodeoxyglucose (FDG) in patients with malignant or benign lung lesion. Materials and Methods: 22 patients (13 malignant including 5 bronchoalverolar cell cancer; 9 benign lesions including 1 hamartoma and 8 active inflammation) were studied after overnight fasting. We performed dynamic PET imaging for 56 min after injection of 370 MBq (10 mCi) of FDG. Standardized uptake values normalized to patient's body weight and plasma glucose concentration (SUVglu) were calculated. The uptake rate constant of FDG and glucose metabolic rate were quantified using Patlak graphical analysis (Kpat and MRpat), three compartment-five parameter model (K5p, MR5p), and six parameter model taking into account heterogeneity of tumor tissue (K6p, MR6p). Areas under receiver operating characteristic curves (ROC) were calculated for each method. Results: There was no significant difference of rate constant or glucose metabolic rate measured by various quantitation methods between malignant and benign lesions. The area under ROC curve were 0.73 for SUVglu, 0.66 for Kpat, 0.77 for MRpat, 0.71 for K5p, 0.73 for MR5p, 0.70 for K6p, and 0.78 for MR6p. No significant difference of area under the ROC curve between these methods was observed except the area between Kpat vs. MRpat (p<0.05). Conclusion: Quantitative methods did not improve diagnostic accuracy in comparison with nonkinetic methods. However, the clinical utility of these methods needs to be evaluated further in patients with low pretest likelihood of active inflammation or bronchoalveolar cell carcinoma.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.33-43
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• 2005

Purpose: X-linked adrenoleukodystrophy(ALD) is a rare disorder that shows a great deal of phenotypic variability. We subdivided chidhood X-linked ALD patients into several phenotypes by the age at onset, the sites of most severe clinical involvement and the rate of progression of neurologic symptoms. Methods: Thirteen patients who had been diagnosed as X-linked ALD and followed up for at least one year were enrolled from 1996 to 2003. Results: 1. Ten had childhood cerebral ALD, who showed first neurologic symptoms at 7.02 years and progressed rapidly: interval between first symptoms and vegetative state was 1.35 years, and interval from initial symptoms to death was 3.35 years. Treatment with Lorenzo's oil did not prevent neurologic progression. Two patients who underwent umbilical cord blood transplantation died. 2. Two had adolescent cerebral ALD. They had first symptoms at 11.5 years, and showed tendency to progress less rapidly than childhood cerebral form patients. 3. One "Addison only" patient who had adrenal insufficiency without nervous system involvement remained asymptomatic during Lorenzo's oil treatment. 4. All cerebral form patients except one showed the lesions in both parieto-ocipital white matter in brain magnetic resonance imaging. Conclusion: The cerebral ALD was the most common form in childhood and was asoociated with a serious prognosis.