No abstract available.

Accurate detection of genomic alterations, especially druggable hotspot mutations in tumors, has become an essential part of precision medicine. With targeted sequencing, we can obtain deeper coverage of reads and handle data more easily with a relatively lower cost and less time than whole-exome or whole-genome sequencing. Recently, we designed a customized gene panel for targeted sequencing of major solid cancers. In this study, we aimed to validate its performance. The cancer panel targets 95 cancer-related genes. In terms of the limit of detection, more than 86% of target mutations with a mutant allele frequency (MAF) <1% can be identified, and any mutation with >3% MAF can be detected. When we applied this system for the analysis of Acrometrix Oncology Hotspot Control DNA, which contains more than 500 COSMIC mutations across 53 genes, 99% of the expected mutations were robustly detected. We also confirmed the high reproducibility of the detection of mutations in multiple independent analyses. When we explored copy number alterations (CNAs), the expected CNAs were successfully detected, and this result was confirmed by target-specific genomic quantitative polymerase chain reaction. Taken together, these results support the reliability and accuracy of our cancer panel in detecting mutations. This panel could be useful for key mutation profiling research in solid tumors and clinical translation.
DNA ; Gene Frequency ; High-Throughput Nucleotide Sequencing ; Limit of Detection ; Polymerase Chain Reaction ; Precision Medicine

PURPOSE: To assess the incidence of coronary artery lesion(CAL) and the efficacy of intravenously administered immune globulin(IVGG) and aspirin therapy, identify risk factors for CAL, and analyze clinical characteristics in infants less than 12 months of age with Kawasaki disease. METHODS: Retrospective chart review of children less than 12 months of age with Kawasaki disease between 1994 and 1998, diagnosed at Chungnam National University Hospital. RESULTS: Of 202 patients with Kawasaki disease, 32(16 percent) were less than 1 year of age, including 7(3 percent) less than 6 months. Sex ratio of male to female was 2.5:1. Age at onset and Harada score were a predictor of the development of CAL:5(71 percent) of 7 children less than 6 months and 10(40 percent) of 25 children between 6 to 12 months of age acquired CAL (P<0.05), and 1(14 percent) of 7 children less than 6 months of age acquired giant CAL. No specific clinical or laboratory features predicted the development of CAL. Persistent(greater than 1 year) CAL were present in 2(7 percent) of 29 IVGG-treated children. The typical clinical features of Kawasaki disease was noted 24(75 percent) of 32 and the atypical one, 8(25 percent) of 32 children less than 12 months of age. CONCLUSION: Patients with Kawasaki disease of less than 12 months of age are at particularly increased risk of having CAL and difficulty in diagnosis due to atypical clinical features. So, it is suggested to intervene in the diagnostic criteria or risk factors for CAL, especially for patients with infant Kawasaki disease of less than 6 months of age.
Aspirin ; Child ; Chungcheongnam-do ; Coronary Vessels ; Diagnosis ; Female ; Humans ; Incidence ; Infant* ; Male ; Mucocutaneous Lymph Node Syndrome* ; Retrospective Studies ; Risk Factors ; Sex Ratio

OBJECTIVE: The purpose of this study is to compare the outcomes of two methods for stabilization and fusion: Postero-Lateral Fusion (PLF, pedicle screw fixation with bone graft) and Posterior Lumbar Interbody Fusion (PLIF, cage insertion) for spinal stenosis and recurred disc herniation except degenerative spondylolisthesis. METHODS: Seventy one patients who underwent PLF (n=36) or PLIF (n=35) between 1997 and 2001 were evaluated prospectively. These two groups were compared for the change of interbody space, the range of segmental angle, the angle of lumbar motion, and clinical outcomes by Prolo scale. RESULTS: The mean follow-up period was 32.6 months. The PLIF group showed statistically significant increase of the interbody space after surgery. However, the difference in the change of interbody space between two groups was insignificant (P value= 0.05). The range of segmental angle was better in the PLIF group, but the difference in the change of segmental angle was not statistically significant (P value=0.017). Angle of lumbar motion was similar in the two groups. Changes of Prolo economic scale were not statistically significant (P value=0.193). The PLIF group showed statistically significant improvement in Prolo functional scale (P value=0.003). In Prolo economic and functional scale, there were statistically significant relationships between follow-up duration (P value<0.001), change of interbody space (P value<0.001), and range of segmental angle (P value<0.001). CONCLUSION: Results of this study indicate that PLIF is superior to PLF in interbody space augmentation and clinical outcomes by Prolo functional scale. Analysis of clinical outcomes showed significant relationships among various factors (fusion type, follow-up duration, change of interbody space, and range of segmental angle). Therefore, the authors recommend instrumented PLIF to offer better clinical outcomes in patients who needed instrumented lumbar fusion for spinal stenosis and recurred disc herniation.
Follow-Up Studies ; Humans ; Prospective Studies ; Spinal Stenosis ; Spondylolisthesis

STUDY DESIGN: Retrospective study. PURPOSE: To more accurately determine the incidence and clarify risk factors. OVERVIEW OF LITERATURE: Superior mesenteric artery syndrome is one of the possible complications following correctional operation for scoliosis. However, when preliminary symptoms are vague, the diagnosis of superior mesenteric artery syndrome may be easily missed. METHODS: We conducted a retrospective study using clinical data from 118 patients (43 men and 75 women) who underwent correctional operations for scoliosis between September 2001 and August 2007. The mean patient age was 15.9 years (range 9~24 years). The risk factors under scrutiny were the patient body mass index (BMI), change in Cobb's angle, and trunk length. RESULTS: The incidence of subjects confirmed to have obstruction was 2.5%. However, the rate increased to 7.6% with the inclusion of the 6 subjects who only showed clinical symptoms of obstruction without confirmative study. The BMI for the asymptomatic and symptomatic groups were 18.4+/-3.4 and 14.6+/-3, respectively. The change in Cobb's angle for the asymptomatic and symptomatic groups were 24.8+/-13.6degrees and 23.4+/-9.1degrees, respectively. The change in trunk length for the asymptomatic and symptomatic groups were 2.3+/-2.1 cm and 4.5+/-4.8 cm, respectively. Differences in Cobb's angle and the change in trunk length between the two groups did not reach statistical significance, although there was a greater increase in trunk length for the symptomatic group than for the asymptomatic group. CONCLUSIONS: Our study shows that the incidence of superior mesenteric artery syndrome may be greater than the previously accepted rate of 4.7%. Therefore, in the face of any early signs or symptoms of superior mesenteric artery syndrome, prompt recognition and treatment are necessary.
Body Mass Index ; Humans ; Incidence ; Male ; Mesenteric Artery, Superior ; Retrospective Studies ; Risk Factors ; Scoliosis ; Superior Mesenteric Artery Syndrome

OBJECTIVE: Premenstrual syndrome (PMS) is a disease with specific psychologic and physical symptoms on luteal phase. Its incidence is variable in 20~80%, but its cause is not definitely proved. Because progesterone and estrogen affect the balance of the body mineral, the alteration of progestorone and estrogen in the patients with PMS may effect the imbalance of tissue mineral, that can induce the specific symptoms of PMS. This study examines the relationship between symptoms of PMS and mineral count by tissue mineral test. METHODS: Women who volunteered for the tissue mineral test completed MMDQ questionnaire and checked blood test for Ca, Mg, Na, K, Cu, Zn. The tissue mineral test used the hair not treated within 3 weeks and not washed within 3 hours. The hair was send to TEI for the analysis. We used SPSS (14.0) for statistical analysis. RESULTS: The MMDQ score of the normal Mg group is significantly higher than the high Mg group (22.5+/-17.8 vs. 13.9+/-11.1), and the behavioral disorder score of the normal Na group is significantly lower than the low Na group (2.2+/-1.7 vs. 3.4+/-2.2). The MMDQ score of the normal Cu group is significantly lower than abnormal group (15.7+/-11.9 vs. 24.9+/-16.9). CONCLUSIONS: Total score of MMDQ showed difference according to magnesium and copper concentrations in tissue, and scores of behavioral disorder was affected by sodium concentration of tissue. Additional study about cause and effect relationship is required.
Copper ; Estrogens ; Female ; Hair ; Hematologic Tests ; Humans ; Incidence ; Luteal Phase ; Magnesium ; Premenstrual Syndrome ; Progesterone ; Surveys and Questionnaire ; Sodium

Double-chambered right ventricle (DCRV) is a rare congenital heart disorder in which the right ventricle is divided by an anomalous muscle bundle into a high pressure inlet portion and a low pressure outlet portion. We report a case of isolated DCRV without symptoms in adulthood, diagnosed through echocardiography, cardiac catheterization and cardiac magnetic resonance imaging.
Bays ; Cardiac Catheterization ; Cardiac Catheters ; Echocardiography ; Heart ; Heart Ventricles ; Humans ; Magnetic Resonance Imaging ; Muscles ; Young Adult

Primary squamous cell carcinoma of the thyroid gland is an extremely rare case to observe and represents less than 1% in all the primary thyroid malignancies. Normally, squamous epithelium is absent in the thyroid gland and presently; its origin is believed to arise from metaplasia of follicular epithelium. Cancer has very aggressive clinical behavior and a very poor prognosis with survival rates of less than 1 year. The best chances of survival have been achieved with complete resection followed by postoperative radiotherapy. Recently, we came across a case of 80-year-old woman with primary squamous cell cacinoma of the thyroid gland present in the background of Hashimoto's thyroiditis. The patient had swelling in the anterior neck portion from the past 20 days. On physical examinaton, 3x3cm2 hard and fixed ill defined mass was detected in the right lobe of thyroid. Repeated fine needle aspiration biopsy of the thyroid revealed the presence of carcinoma. Apparently, Palliative thyroidectomy was performed after 3 months of diagnosis. During operation, the tumor was revealed as a mass of 100mm in diameter and infiltrated the surrounding muscles, trachea and other soft tissue in the neck. After the operation, the patient's condition deteriorated and ultimately after 5 months of her initial visit, she died due to respiratory failure.
Aged, 80 and over ; Biopsy ; Biopsy, Fine-Needle ; Carcinoma, Squamous Cell* ; Diagnosis ; Epithelium ; Female ; Humans ; Metaplasia ; Muscles ; Neck ; Prognosis ; Radiotherapy ; Respiratory Insufficiency ; Survival Rate ; Thyroid Gland* ; Thyroidectomy ; Thyroiditis ; Trachea

BACKGROUND: High risks of fire alway exist for buildings in urban areas, especially those in downtown. Crowds, as well as more complex and larger structures, may cause more victims in the event of fire; therefore, emergency medical service plans must be established for such disastrous events. METHODS: On the evening of October 30, 1999, a fire broke out in downtown, Dong-Incheon Live-Hof restaurant; 56 people were killed and 76 were injured. Most of them were teenagers. We retrospectively reviewed the medical records of the victims. RESULTS: 1) Among the 56 dead, 54 died from smoke inhalation, one from extensive burns, and one from sepsis during treatment. 2) Among the 76 injured, 70 patients suffered from smoke inhalation, 53 from burns, and 9 from several types of trauma (sprains, contusions, lacerations, abrasions, fractures, etc.). 3) Later complications were laryngeal edema, pulmonary edema, scar contracture, and hypoxic brain damage, and so forth. 4) Post traumatic stress syndrome was unexpectedly more prevalent in mildly to moderately injured survivors and witnesses than in seriously injured survivors. CONCLUSION: Many complications exist after a fire. Some may be resolved in time, but others may result in permanent sequelae. Early rescue, early triage, and early management during transport by emergency medical service (EMS) personnel can result in fewer complications and a lower mortality rate. Therefore, we propose the establishment of plans to be followed during various major disasters.
Adolescent ; Burns ; Cicatrix ; Contracture ; Contusions ; Disasters ; Emergency Medical Services ; Fires* ; Humans ; Hypoxia, Brain ; Inhalation ; Lacerations ; Laryngeal Edema ; Medical Records ; Mortality ; Pulmonary Edema ; Restaurants* ; Retrospective Studies ; Sepsis ; Smoke ; Survivors ; Triage

PURPOSE: Cardiovascular risk assessment of atherosclerotic arterial occlusive diseases is a critical component of preoperative care. Many indexes have been developed to help identify patients at high risk for perioperative cardiac events. We sought to study guideline implementation and clinical outcomes in cardiovascular risk assessment. METHOD: We studied 75 patients who underwent preoperative cardiac risk assessment between 2003 and 2006 at the Kyung Hee University Medical Center. The American College of Cardiology/American Heart Association (ACC/AHA) guidelines were used to stratify the patients. RESULT: The mean age of patients was 67.9 years. When stratified into risk categories according to the ACC/AHA guidelines, 2 patients was high risk group, 51 intermediate risk group, and 22 low risk group. There were 3 perioperative cardiac complications (4.0%) including 2 mortalities (2.7%). There was a trend toward a higher frequency of cardiac complications when there was discordance with the ACC/AHA guidelines, but there was no significant difference (discordance 7.1%, concordance 0%, P=0.251). The guidelines recommended cardiac testing for 44 patients, but 12 patients (27.3%) were tested. The guidelines did not recommend for 31 patients, but additional cardiac tests were done for 10 patients (32.3%) and mainly associated with low risk group. CONCLUSION: Differences between clinician practice and guideline recommendations existed and did not result in a higher frequency of cardiac complications.
Academic Medical Centers ; Arterial Occlusive Diseases* ; Heart ; Humans ; Mortality ; Preoperative Care ; Risk Assessment*