45,X/47,XYY mosaicism is a rare sex chromosomal disorder with clinical information limited to 25 cases in the literature. We report an unusual mosaic Turner syndrome case in a 35-year old Korean woman with a phenotypic female, primary amenorrhea, short stature, immature secondary sexual characteristics. Cytogenetic analysis including G- and Q-banding revealed 45,X/47,XYY mosaicism, and SRY gene was demonstrated by polymerase chain reaction(PCR). Prophylactic bilateral gonadectomy was performed because the presence of Y-chromosomal sequences in Turner stigmata may predispose this patient to gonadoblastoma formation.
Adult ; Amenorrhea ; Christianity ; Chromosome Disorders ; Cytogenetic Analysis ; Female ; Genes, sry ; Gonadoblastoma ; Humans ; Mosaicism ; Turner Syndrome*

OBJECTIVE: To evaluate the efficacy of postoperative adjuvant therapy was evaluated in preventing treatment failure occurring after primary treatment with surgery in early invasive cervical cancer patients associated with histopathologic high risk factors such as lymph node metastasis, either macroscopic or microscopic, parametrial extension, lymphovascular permeation and depth of invasion >or=10 mm. METHODS: Postoperative adjuvant concurrent chemoradiotherapy (PCCRT), postoperative adjuvant chemotherapy (PCT) or postoperative adjuvant radiotherapy (PRT) alone was administered to the 80 early invasive cervical cancers with at least one of the high risk factors. Each of 61 patients was received three to six cycles of chemotherapy at about 3-weeks intervals. For squamous cell carcinoma, cisplatin 100 mg/m2 IV, or paraplatin 350 mg/m2 IV was infused followed by 5-FU 1000 mg/m2 IV infusion for 5 days. Twenty three patients were treated with PCCRT, 38 patients were treated with PCT alone. And 19 patients received PRT. RESULTS: The five-year survival rate of patients with macroscopic metastasis was 66.7% and 35.7%, in PCCRT and PRT, respectively. With microscopic lymph node metastasis, the 5-year survival rate was 83.3%, 60.0%, and 70.1% in PCCRT, PCT and PRT, respectively. With parametrial extension, the 5-year survival rate was 58.1% in PCCRT. The five-year survival rate of patients with lymphovascular permeation was 100%, 90.9% and 66.7% in PCCRT, PCT and PRT, respectively. With depth of invasion >or=10 mm, the 5-year survival rate was 100% and 91.3%, in PCCRT and PCT, respectively. CONCLUSION: PCCRT appears to be superior to PRT or PCT alone in early invasive cervical cancer patients with histopathologic high risk factors.
Carboplatin ; Carcinoma, Squamous Cell ; Chemoradiotherapy ; Chemotherapy, Adjuvant ; Cisplatin ; Drug Therapy ; Fluorouracil ; Humans ; Laparotomy* ; Lymph Nodes ; Neoplasm Metastasis ; Radiotherapy, Adjuvant ; Risk Factors* ; Survival Rate ; Treatment Failure ; Uterine Cervical Neoplasms*

No abstract available.
Aneurysm* ; Coronary Aneurysm ; Coronary Vessels* ; Drug-Eluting Stents ; Stents* ; Ultrasonography, Interventional

Direct coronal CT scans of the body have been carried out in 78 cases of the thoracic and abdnominal diseases. The results are as follows: 1. Among total 78 patients, 66 cases were successfully scanned by the direct coronal CT. 2. Direct co ronal CT scan most accurately detected retroperitoneal diseases, especially renal diseases. 3. In comparison with multiplanar reformating (MPR) image, direct coronal CT of the body has three advantages: (a) improved image quality: (b) improved definition of the coronal anatomy : (c) shorter examination time. 4. Direct coronal CT has advantages in evaluation of the mass nature and relationship with other organs. 5. Disadvantages or limitations of the direct coronal CT are as follows: in creased radiation exposure and insufficient positioning for disabled patients. 6. In our experience, direct coronal CT is considered as helpful method for presurgical evaluation and the rapeutic management of various diseases, especially gross tumor of the retroperitoneum.
Humans ; Methods ; Radiation Exposure ; Tomography, X-Ray Computed

BACKGROUND: Kallmann's syndrome is related to the defect in migration of olfactory neuron and GnRH neuron from the olfactory placode to the brain and it represents hypogonadism with anosmia or hyposmia. There are 3 modes of transmission in Kallmann's syndrome: X-linked, autosomal recessive and autosomal dominant. X-linked form is the most common. KAL gene is responsible for the X-linked form of Kallmann's syndrome and it had been localized to Xp22.3. The intron-exon organization had been determined and KAL gene mutation had also been identified in familial Kallmann's syndrome and it is very rare and shows heterogeneity. Furthermore, in the sporadic cases, KAL gene mutation is more rare. METHODS: In order to investigate the KAL gene mutation and the regulation of the gene expression in Kallmann's syndrome, we examined genomic DNA of 35 patients with sporadic Kallmann's syndrome. In the exon 3, 4, 5, 6, 7, 8, 9, 10, 11, 12 of KAL gene and 1, 2, 3 of GnRH receptor gene, the mutations were analyzed by PCR-based DNA sequencing. RESULTS: In our study, the mutation of KAL gene and GnRH receptor gene was not identified in the studied exons that were known as preferable sites of the mutation. CONCLUSION: The mutation of KAL gene and GnRH receptor gene is rare, and it might be needed to investigate mutations in other genes or in other part of the KAL gene such as intron or promoter region.
Brain ; DNA ; Emigration and Immigration ; Exons ; Gene Expression ; Gonadotropin-Releasing Hormone* ; Humans ; Hypogonadism ; Introns ; Kallmann Syndrome* ; Neurons ; Olfaction Disorders ; Population Characteristics ; Promoter Regions, Genetic ; Receptors, LHRH* ; Sequence Analysis, DNA

Objective: We aimed to develop a deep neural network for segmenting lung parenchyma with extensive pathological conditions on non-contrast chest computed tomography (CT) images. Materials and Methods: Thin-section non-contrast chest CT images from 203 patients (115 males, 88 females; age range, 31–89 years) between January 2017 and May 2017 were included in the study, of which 150 cases had extensive lung parenchymal disease involving more than 40% of the parenchymal area. Parenchymal diseases included interstitial lung disease (ILD), emphysema, nontuberculous mycobacterial lung disease, tuberculous destroyed lung, pneumonia, lung cancer, and other diseases. Five experienced radiologists manually drew the margin of the lungs, slice by slice, on CT images. The dataset used to develop the network consisted of 157 cases for training, 20 cases for development, and 26 cases for internal validation. Two-dimensional (2D) U-Net and three-dimensional (3D) U-Net models were used for the task. The network was trained to segment the lung parenchyma as a whole and segment the right and left lung separately. The University Hospitals of Geneva ILD dataset, which contained high-resolution CT images of ILD, was used for external validation. Results: The Dice similarity coefficients for internal validation were 99.6 ± 0.3% (2D U-Net whole lung model), 99.5 ± 0.3% (2D U-Net separate lung model), 99.4 ± 0.5% (3D U-Net whole lung model), and 99.4 ± 0.5% (3D U-Net separate lung model).The Dice similarity coefficients for the external validation dataset were 98.4 ± 1.0% (2D U-Net whole lung model) and 98.4 ± 1.0% (2D U-Net separate lung model). In 31 cases, where the extent of ILD was larger than 75% of the lung parenchymal area, the Dice similarity coefficients were 97.9 ± 1.3% (2D U-Net whole lung model) and 98.0 ± 1.2% (2D U-Net separate lung model). Conclusion The deep neural network achieved excellent performance in automatically delineating the boundaries of lung parenchyma with extensive pathological conditions on non-contrast chest CT images.

PURPOSE: We studied and reported on cancer incidence and mortality rates as projected for the year 2014 in order to estimate Korea's current cancer burden. MATERIALS AND METHODS: Cancer incidence data from 1999 to 2011 were obtained from the Korea National Cancer Incidence Database, and cancer mortality data from 1993 to 2012 were acquired from Statistics Korea. Cancer incidence in 2014 was projected by fitting a linear regression model to observed age-specific cancer incidence rates against observed years, then multiplying the projected age-specific rates by the age-specific population. For cancer mortality, a similar procedure was employed, except that a Joinpoint regression model was used to determine at which year the linear trend changed significantly. RESULTS: A total of 265,813 new cancer cases and 74,981 cancer deaths are expected to occur in Korea in 2014. Further, the crude incidence rate per 100,000 of all sites combined will likely reach 524.7 and the age-standardized incidence rate, 338.5. Meanwhile, the crude mortality rate of all sites combined and age-standardized rate are projected to be 148.0 and 84.6, respectively. Given the rapid rise in prostate cancer cases, it is anticipated to be the fourth most frequently occurring cancer site in men for the first time. CONCLUSION: Cancer has become the most prominent public health concern in Korea, and as the population ages, the nation's cancer burden will continue to increase.
Forecasting ; Humans ; Incidence* ; Korea ; Linear Models ; Male ; Mortality* ; Prostatic Neoplasms ; Public Health

PURPOSE: This study aimed to report nationwide cancer statistics in Korea, including incidence, mortality, survival, and prevalence, and their trends. MATERIALS AND METHODS: Incidence data from 1993 to 2011 were obtained from the Korea National Cancer Incidence Database, and vital status was followed through December 31, 2012. Mortality data from 1983 to 2011 were obtained from Statistics Korea. Crude and age-standardized rates for incidence, mortality, and prevalence, and relative survival were calculated. RESULTS: A total of 218,017 cancer cases and 71,579 cancer deaths were reported to have occurred in 2011, and there were 1,097,253 prevalent cases identified in Korea as of January 1, 2012. Over the past 13 years (1999-2011), overall incidence rates have increased by 3.4% per year. The incidence rates of liver and cervical cancers have decreased, while those of thyroid, breast, prostate, and colorectal cancers have increased. Notably, thyroid cancer increased by 23.3% per year in both sexes, and became the most common cancer since 2009. The mortality for all cancers combined decreased by 2.7% per year from 2002 to 2011. Five-year relative survival rates of patients diagnosed in the last 5 years (2007-2011) have improved by 25.1% compared with those from 1993 to 1995. CONCLUSION: Overall cancer mortality rates have declined since 2002 in Korea, while incidence has increased rapidly and survival has improved.
Breast ; Colorectal Neoplasms ; Humans ; Incidence* ; Korea ; Liver ; Mortality* ; Prevalence* ; Prostate ; Survival Rate ; Thyroid Gland ; Thyroid Neoplasms

OBJECTIVE: Patients undergoing intracranial operations often suffer from post-operative epidural hematoma (EDH). The incidence and risk factors for with the occurrence of EDH after intracranial operations are not well described previously. The objective of this study was to identify the risk factors and the incidence of post-operative EDH adjacent and regional to the craniotomy. METHODS: This was a retrospective study of 23 (2.4%) patients, between January 2005 and December 2011, who underwent epidural hematoma evacuation after primary intracranial during this period, 941 intracranial operations were performed. The control group (46 patients) and hematoma group (23 patients) were categorized on the basis of having undergone the same pre-operative diagnosis and treatment within 3 months of their operations. The ages of the hematoma and control group were individually matched to similar ages within 10 years of each other to minimize bias of age. RESULTS: Univariate analysis showed that the significant pre-operative and intra-operative factors associated with post-operative EDH were a pre-operative Glasgow Coma Scale (GCS) scored <8 (crude odds ratio 8.295), prothrombin ratio >1.0 (p=0.014), prothrombin time (PT) >11.3 sec (p=0.008), intra-operative blood loss >650 mL (p=0.003) and craniotomy size >7,420 mm2 (p=0.023). In multivariate analysis, intra-operative blood loss exceeding 650 mL (median of total patients) placed a patient at significantly increased risk for post-operative EDH. CONCLUSION: Recognizing the limitations of the study, large intra-operative blood loss, wide craniotomy area, prolonged PT and a pre-operative GCS <8 are presented implicated with an increased risk of post-operative EDH after intracranial surgery.
Bias (Epidemiology) ; Craniotomy ; Glasgow Coma Scale ; Hematoma ; Hematoma, Epidural, Cranial ; Humans ; Incidence ; Multivariate Analysis ; Odds Ratio ; Prothrombin ; Prothrombin Time ; Retrospective Studies ; Risk Factors

PURPOSE: Primary sclerosing cholangitis (PSC) is a rare condition that can be associated with inflammatory bowel disease (IBD). The aim of this study was to evaluate PSC and its association with IBD in children. METHODS: We retrospectively enrolled 13 pediatric patients (<18 years) with PSC treated at Asan Medical Center between June 1989 and December 2013. Clinical findings and long-term outcomes were investigated. During the same period, the incidence of PSC among IBD patients was evaluated among 600 Crohn disease (CD) and 210 ulcerative colitis (UC) patients. RESULTS: All 13 study patients diagnosed with PSC also presented with IBD. Eleven boys and two girls with a median age of 15.0 years old (9.0-17.8 years) were included. The cumulative incidence of PSC for UC was 5.7% (12 of 210) and 0.2% for CD (1 of 600), respectively. PSC occurred during follow-up for IBD for five patients (38.5%) whereas, IBD developed during follow-up for PSC for two patients (15.4%), and was diagnosed during the initial work-up for PSC for 6 patients (46.2%). For the 77.3 month median follow-up period, 9/13 patients (69.2%), neither the clinical symptoms nor blood test results worsened. Two cases (15.4%) developed liver cirrhosis and underwent liver transplantation. Among 13 PSC patients with IBD, two (15.4%) developed colorectal cancer, and no one developed cholangiocarcinoma. CONCLUSION: All patients with PSC in this study had associated IBD. The incidence of PSC was not rare compared to reports in adults. PSC should be considered during the management of IBD and vice versa in children.
Adult ; Child* ; Cholangiocarcinoma ; Cholangitis, Sclerosing* ; Chungcheongnam-do ; Colitis, Ulcerative ; Colorectal Neoplasms ; Crohn Disease ; Female ; Follow-Up Studies ; Hematologic Tests ; Humans ; Incidence ; Inflammatory Bowel Diseases* ; Liver Cirrhosis ; Liver Transplantation ; Retrospective Studies