Alveolar soft-part sarcoma is a rare soft tissue sarcoma of young adults with unknown histogenesis, and the organ most frequently involved in metastasis is the lung. We report the CT findings of three patients of pulmonary metastases of alveolar soft-part sarcoma, which manifested as clearly enhanced pulmonary nodules or masses. On enhanced scans, some of the masses were seen to contain dilated and tortuous intratumoral vessels.
Adult ; Case Report ; Female ; Human ; Lung Neoplasms/blood supply/*radiography/*secondary ; Male ; Sarcoma, Alveolar Soft Part/blood supply/*radiography/*secondary ; *Tomography, X-Ray Computed

No abstract available.
Survival Rate* ; Uterine Cervical Neoplasms*

Various invasive and non-invasive imaging techniques have been used for the diagnosis of cardiac disease. The recently introduced multidetector row CT (MDCT) shows rapid scan speed, high temporal resolution and large volume coverage in a single breath-hold. MDCT opens a new horizon for cardiac imaging because noninvasive coronary artery imaging has become feasible using MDCT. In this article, we illustrate the technical aspects of coronary CT angiography using MDCT.
Angiography ; Coronary Angiography* ; Coronary Vessels ; Diagnosis ; Heart Diseases ; Multidetector Computed Tomography*

Blastomycosis is a systemic pyogranulomatous disease that is caused by a thermally dimorphic fungus, Blastomyces dermatitidis. it's the disease is endemic in the south-eastern and south central states of the USA, which border the Mississippi and Ohio Rivers, the mid-western states and Canadian provinces bordering the Great Lakes as well as in a small area of New York and Canada adjacent to the St. Lawrence River.1 We encountered a case of blastomycosis, representing as a pulmonary manifestation after traveling around a non-endemic area and report it with a brief review of the relevant literature.
Blastomyces ; Blastomycosis* ; Canada ; Fungi ; Lakes ; Mississippi ; Ohio ; Rivers

Objective: This study evaluated the clinical usefulness of mean platelet volume (MPV) for predicting functional outcomes in subarachnoid hemorrhage (SAH) patients. Methods: This is a retrospective analysis of patients who were diagnosed with SAH in the emergency room. Based on their modified Rankin Scale (mRS) score, patients were divided into two groups: 0-2 (good outcome) and 3-6 (poor outcome). Univariable and multivariable analyses were performed to investigate whether MPV, along with other multiple factors, was associated with poor prognosis. Receiver operating characteristic (ROC) curve analysis was performed to determine the value of MPV as a predicting factor of neurological prognosis. Compared to other factors, Hunt Hess grade (HHG) and modified Fisher grade (mFG) considerably influenced the outcomes in both groups (Model 1; model including all factors). Hence, a new model (Model 2) was constructed, comprising multiple factors excluding these two factors. Results: A total of 143 patients were included in this study. Although MPV was different between the two groups, it was not a significant factor in Model 1 in the multivariable analysis. In Model 2, MPV (odds ration [OR], 1.71; 95% confidence interval [CI], 1.05-2.8), age (OR, 1.06; 95% CI, 1.03-1.1), and surgical treatment (OR, 0.37; 95% CI, 0.15-0.87) were significant factors related to poor outcomes. Area under the curve (AUC) of Model 1 was 0.93, 0.85 in HHG; 0.78 in Model 2, 0.65 in mFG, and 0.62 in MPV. Conclusion Although MPV differed significantly between the good and poor outcome groups, it is insufficient to predict poor outcomes in SAH patients as an independent biomarker.

Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis. This study was conducted to analyze the genotypes and phenotypes of pediatric patients with cystinuria. Eight children from Seoul National University Hospital and Asan Medical Center presenting with cystinuria from January 2003 to June 2016 were retrospectively analyzed. Mutational studies were performed by direct sequencing. Two of the 8 were male and 6 were female. The median ages at onset and diagnosis were 1.5 (range, 0.3–13.6) and 2.6 (range, 0.7–16.7) years, respectively. The median followed up was 7.7 (range, 3.4–14.0) years. Mutational analyses were performed in 7 patients and revealed biallelic SLC3A1 mutations (AA genotype) in 4 patients, a single heterozygous SLC3A1 mutation (A- genotype) in 1 patient, biallelic SLC7A9 mutations (BB genotype) in 1 patient, and a single heterozygous SLC7A9 mutation (B- genotype) in 1 patient. Two of the mutations were novel. No genotype-phenotype correlations were observed, except for earlier onset age in patients with non-AA genotypes than in patients with the AA genotype. All patients suffered from recurrent attacks of symptomatic nephrolithiasis, which lead to urologic interventions. At the last follow-up, 3 patients had a mild-to-moderate degree of renal dysfunction. This is the first study of genotypic and phenotypic analyses of patients with cystinuria in Korea.
Age of Onset ; Amino Acids, Diamino ; Child ; Chungcheongnam-do ; Cystine ; Cystinuria* ; Diagnosis ; Female ; Follow-Up Studies ; Genetic Association Studies ; Genotype* ; Humans ; Korea ; Male ; Nephrolithiasis ; Phenotype* ; Renal Reabsorption ; Retrospective Studies ; Seoul

PURPOSE: Infantile Marfan syndrome (MFS) is a rare congenital inheritable connective tissue disorder with poor prognosis. This study aimed to evaluate the cardiovascular manifestations and overall prognosis of infantile MFS diagnosed in a tertiary referral center in Korea. METHODS: Eight patients diagnosed with infantile MFS between 2004 and 2014 were retrospectively evaluated. RESULTS: Their median age at the time of diagnosis was 2.5 months (range, 0-20 months). The median follow-up period was 25.5 months (range, 0-94 months). The median length at birth was 50.0 cm (range, 48-53 cm); however, height became more prominent over time, and the patients were taller than the 97th percentile at the time of the study. None of the patients had any relevant family history. Four of the 5 patients who underwent DNA sequencing had a fibrillin 1 gene mutation. All the patients with echocardiographic data of the aortic root had a z score of >2. All had mitral and tricuspid valve prolapse, and various degrees of mitral and tricuspid regurgitation. Five patients underwent open-heart surgery, including mitral valve replacement, of whom two required multiple operations. The median age at mitral valve replacement was 28.5 months (range, 5-69 months). Seven patients showed congestive heart failure before surgery or during follow-up, and required multiple anti-heart failure medications. Four patients died of heart failure at a median age of 12 months. CONCLUSION: The prognosis of infantile MFS is poor; thus, early diagnosis and timely cautious treatment are essential to prevent further morbidity and mortality.
Connective Tissue ; Diagnosis ; Early Diagnosis ; Echocardiography ; Follow-Up Studies ; Heart Failure ; Humans ; Infant, Newborn ; Korea ; Marfan Syndrome* ; Mitral Valve ; Mitral Valve Insufficiency ; Mortality ; Parturition ; Prognosis ; Retrospective Studies ; Sequence Analysis, DNA ; Tertiary Care Centers* ; Tricuspid Valve Insufficiency ; Tricuspid Valve Prolapse

The term tumoral calcinosis in used to describe the deposition of nodular calcareous masses in the soft tissue around large joints, such as the hips, shoulders, and elbows. Although the cause has not yet been clearly determined, according to the hypothesis, failure of phosphorus metabolism in the proximal tubule in kidney, chronic renal disease and hyperparathyroidism may cause tumoral calcinosis. No cases of tumoral calcinosis treated with surgical resection in chronic renal failure patients on hemodialysis, so called uremic tumoral calcinosis, have been reported in Korea. The authors experienced the case of a 57-year-old woman with chronic kidney disease on hemodialysis who presented with a mass around the hip. We made a diagnosis using plain radiographs, magnetic resonance imaging, and computed tomography of tumoral calcinosis, and treated the patient successfully with surgical resection. We report on a case of uremic tumoral calcinosis with a review of the literature.
Calcinosis* ; Diagnosis ; Elbow ; Female ; Hip ; Hip Joint* ; Humans ; Hyperparathyroidism ; Joints ; Kidney ; Kidney Failure, Chronic ; Korea ; Magnetic Resonance Imaging ; Metabolism ; Middle Aged ; Phosphorus ; Renal Dialysis* ; Renal Insufficiency, Chronic ; Shoulder

BACKGROUND: This study was designed to examine how glutathione, one of the nucleophilic sulfur compounds, effects the cisplatin cellular toxicity in the non-small cell lung cancer cell lines and normal lung epithel ial cell line. METHODS: Three cultured cell lines, the lung adenocarcinoma cell(NCL-H23), the lung squamous carcinoma cell (SK-MES-1) and the normal lung epithelial cell(L-132) line were exposed to various concentrations of cisplation with or without glutathione. The relative viability was estimated as a means of measuring the cisplatin cellular toxicity using the MTT method. RESULTS: In NCL-23, the response to cisplatin was sensitive but glutathione markedly increased the relative survival of the tumor cells by removing the antitumor effect of cisplatin. In both SK-MES-1 and L-132, the responses to cisplatin were less sensitive, and the chemoprotective effect of glutathione compared to an equal cisplatin dose was signigicantly higher in L-132 than in SK-MES-1(p<0.05). CONCLUSION: The protective effects of glutathione on cisplatin-induced cellular toxicity is more signigicant in normal lung epithelial cells than in squamous carcinoma cells.
Adenocarcinoma ; Carcinoma, Non-Small-Cell Lung* ; Carcinoma, Squamous Cell ; Cell Line* ; Cells, Cultured ; Cisplatin ; Epithelial Cells ; Glutathione* ; Lung ; Sulfur Compounds

Since the first descriptions of Brugada as a new clinical entity defined by sudden cardiac death in patients with typical electrocardiogram (ECG) patterns, Brugada syndrome (BS) has been increasingly diagnosed. This syndrome is known as a disease that is inherited via an autosomal dominant trait, and the SCN5A mutation has been found in 20-25% of BS patients. Because BS primarily manifests in adulthood, little information is available on BS during childhood. Although there have been several reports on adult BS in Korea, pediatric BS has not been reported. Herein, we report on childhood BS in two families. One infantile BS patient and his family had a novel SCN5A mutation (c.4035G>T, p.W1345C, heterozygote) in domain III of the sodium channel.
Adult ; Brugada Syndrome ; Death, Sudden, Cardiac ; Electrocardiography ; Humans ; Korea ; Sodium Channels ; Tachycardia, Ventricular