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

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

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

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

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

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

BACKGROUND: Patients with established ARDS have a mortality rate that exceeds 50 percent despite of intensive care including artificial ventilation modality. Mortality has been associated with sepsis and organ failure preceding or following ARDS ; APACHE ll score ; old age and predisposing factors. Revised ventilator strategy over last 10 years especially at ARDS appeared to improve the mortality of it. We retrospectively investigated 40 ARDS patients of respiratory-care unit to examine how these factors influence outcome. METHODS: A retrospective investigation of 40 ARDS patients in respiratory-care unit with ventilator management over 46 months was performed. We investigated the clinical characteristics such as a risk factor, cause of death and mortality, and also parameters such as APACHE ll score, number of organ dysfunction and hypoxia score (HS, PaO2/FIO2) at day 1, 3, 7 of severe acute lung injury, and simultaneously the PEEP level and tidal volume. RESULTS: Clinical conditions associated with ARDS were sepsis 50%, pneumonia 30%, aspiration pneumonia 20%, and mortality rate based on the etiology of ARDS was sepsis 50%, pneumonia 67% (p<0.01 vs sepsis), aspiration pneumonia 38%. Overall mortality rate was 60%. In 28 day-nonsurvivors, leading cause of death was severe sepsis (42.9%) followed by MOF (28.6%), respiratory failure (19.1%), and others (9.5%). There were no differences in variables of age, sex, APACHE ll score, HS, and numbers of organ dysfunction at day 1 of ARDS between 28-days survivor and nonsurvivors. In view of categorized variables of age( > 70), APACHE ll score( > 26), HS(< 150) at day 1 of ARDS, there were significant differences between 28-days survivor and nonsurvivors(p<0.05). After day 1 of ARDS, the survivors have improved their APACHE ll score, HS, numbers of organ dysfunction over the first 3d to 7d, but nonsurvivors did not improve over a seven-day course. There were significant differences in APACHE II score and numbers of organ dysfunction of day 3, 7 of ARDS, and HS of day 7 of ARDS between survivors and nonsurvivors(p<0.05). Fatality rate of ARDS has been declined from 68% to less than 40% between 1995 and 1998. There were no differences in APACHE ll score, HS, numbers of organ dysfunction, old age at presentation of ARDS. In last years, mean PEEP level was significantly higher and mean tidal volume was significantly lower than previous years during seven days of ARDS(p<0.01). CONCLUSIONS: Improvement of HS, APACHE ll score, organ dysfunction over the first 3d to 7d is associated with increased survival. Decline in ARDS fatality rates between 1995 and 1998 seems that this trend must be attributed to improved supportive therapy including at least high PEEP instead of conventional-least PEEP approach in ventilator management of acute respiratory distress syndrome.
Acute Lung Injury ; Anoxia ; APACHE ; Causality ; Cause of Death ; Humans ; Intensive Care Units* ; Critical Care* ; Mortality ; Organ Dysfunction Scores ; Pneumonia ; Pneumonia, Aspiration ; Respiratory Distress Syndrome, Adult* ; Respiratory Insufficiency ; Retrospective Studies ; Risk Factors ; Sepsis ; Survivors ; Tidal Volume ; Ventilation ; Ventilators, Mechanical

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

Therapeutic hypothermia (TH) has been used to protect neurological functions in cardiac arrest patient. Although Osborn wave is not pathognomonic of hypothermia, it is a well-known electrocardiogram finding of hypothermic patients. The cellular and ionic mechanisms of the Osborn wave have been suggested, and its relationship to tachyarrhythmias, such as ventricular tachycardia and ventricular fibrillation, is being explored. This case highlights the arrhythmogenic potential of Osborn wave and individual difference in response of TH.
Electrocardiography ; Heart Arrest ; Humans ; Hypothermia* ; Individuality ; Tachycardia ; Tachycardia, Ventricular ; Ventricular Fibrillation*