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

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*

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

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

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

Evidence indicates that Helicobacter pylori is the causative agent of chronic gastritis and perhaps gastric malignancy. Extracellular vesicles (EVs) play an important role in the evolutional process of malignancy due to their genetic material cargo. We aimed to evaluate the clinical significance and biological mechanism of H. pylori EVs on the pathogenesis of gastric malignancy. We performed 16S rDNA-based metagenomic analysis of gastric juices either from endoscopic or surgical patients. From each sample of gastric juices, the bacteria and EVs were isolated. We evaluated the role of H. pylori EVs on the development of gastric inflammation in vitro and in vivo. IVIS spectrum and confocal microscopy were used to examine the distribution of EVs. The metagenomic analyses of the bacteria and EVs showed that Helicobacter and Streptococcus are the two major bacterial genera, and they were significantly increased in abundance in gastric cancer (GC) patients. H. pylori EVs are spherical and contain CagA and VacA. They can induce the production of tumor necrosis factor-α, interleukin (IL)-6 and IL-1β by macrophages, and IL-8 by gastric epithelial cells. Also, EVs induce the expression of interferon gamma, IL-17 and EV-specific immunoglobulin Gs in vivo in mice. EVs were shown to infiltrate and remain in the mouse stomach for an extended time. H. pylori EVs, which are abundant in the gastric juices of GC patients, can induce inflammation and possibly cancer in the stomach, mainly via the production of inflammatory mediators from gastric epithelial cells after selective uptake by the cells.
Adenocarcinoma* ; Animals ; Bacteria ; Epithelial Cells* ; Extracellular Vesicles* ; Gastric Juice* ; Gastritis ; Helicobacter pylori ; Helicobacter* ; Humans ; Immunoglobulin G ; In Vitro Techniques ; Inflammation* ; Interferons ; Interleukin-17 ; Interleukin-8 ; Interleukins ; Macrophages ; Metagenomics ; Mice ; Microscopy, Confocal ; Necrosis ; Stomach ; Stomach Neoplasms ; Streptococcus

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

Breast reconstruction using TRAM flap after mastectomy has been widely adopted and regarded as a gold standard method. In patients with the abdominal midline scar, insufficient blood circulation to regions contralateral to the pedicle disables inclusion of them in the TRAM flap design. So modifications including Double- pedicled TRAM, Super-charged, Turbo-charged, Bipedicled free TRAM et al. have been attempted to resolve the problem of circulatory interruption by midline scar. The authors designed a new bipedicled free TRAM flap to avoid limitations like epigastric buldging, significant abdominal weakness and complexity of flap insetting. The two donor arteries(right and left deep inferior epigastric arteries) are anastomosed to the proximal and distal ends of divided internal mammary arteries using the reverse flow. Vein anastomoses were performed in the same manner through the divided venae comitantes. Two patients having infraumbilical midline scar underwent breast reconstruction using author`s new flap. Flaps survived without fat necrosis or partial flap loss in both patients and their results in aesthetic aspects were very satisfactory. Compared to previous method for breast reconstruction of patients having infraumbilical midline scar, author's new method is useful and effective in terms of the aesthetic and technical aspect.
Blood Circulation ; Breast* ; Cicatrix* ; Fat Necrosis ; Female ; Humans ; Mammaplasty* ; Mammary Arteries ; Mastectomy ; Tissue Donors ; Veins