Normal-karyotype acute myeloid leukemia (NK-AML) is a highly malignant and cytogenetically heterogeneous hematologic cancer. We searched for somatic mutations from 10 pairs of tumor and normal cells by using a highly efficient and reliable analysis workflow for whole-exome sequencing data and performed association tests between the NK-AML and somatic mutations. We identified 21 nonsynonymous single nucleotide variants (SNVs) located in a coding region of 18 genes. Among them, the SNVs of three leukemia-related genes (MUC4, CNTNAP2, and GNAS) reported in previous studies were replicated in this study. We conducted stepwise genetic risk score (GRS) models composed of the NK-AML susceptible variants and evaluated the prediction accuracy of each GRS model by computing the area under the receiver operating characteristic curve (AUC). The GRS model that was composed of five SNVs (rs75156964, rs56213454, rs6604516, rs10888338, and rs2443878) showed 100% prediction accuracy, and the combined effect of the three reported genes was validated in the current study (AUC, 0.98; 95% confidence interval, 0.92 to 1.00). Further study with large sample sizes is warranted to validate the combined effect of these somatic point mutations, and the discovery of novel markers may provide an opportunity to develop novel diagnostic and therapeutic targets for NK-AML.
Clinical Coding ; Genetic Variation ; Leukemia, Myeloid, Acute ; Point Mutation ; Risk Assessment ; ROC Curve ; Sample Size ; Sequence Analysis, DNA

BACKGROUND: We postulate that a delay in the implementation of hepatic arterial embolization for traumatic liver injury patients will negatively affect patient prognosis. Our work also seeks to identify factors related to the mortality rate among traumatic liver injury patients. METHODS: From January 2008 to April 2014, patients who had been admitted to the emergency room, were subsequently diagnosed with traumatic liver injury, and later underwent hepatic arterial embolization were included in this retrospective study. RESULTS: Of the 149 patients that underwent hepatic arterial embolization, 86 had the procedure due to traumatic liver injury. Excluding the 3 patients that were admitted to the hospital before procedure, the remaining 83 patients were used as subjects for the study. The average time between emergency room arrival and incidence of procedure was 164 min for the survival group and 132 min for the non-survival group; this was not statistically significant (p = 0.170). The average time to intervention was 182 min for the hemodynamically stable group, and 149 min for the hemodynamically unstable group, the latter having a significantly shorter wait time (p = 0.047). Of the factors related to the mortality rate, the odds ratio of the Glasgow Coma Score (GCS) was 18.48 (p < 0.001), and that of albumin level was 0.368 (p = 0.006). CONCLUSIONS: In analyzing the correlation between mortality rate and the time from patient admission to arrival for hepatic arterial embolization, there was no statistical significance observed. Of the factors related to the mortality rate, GCS and albumin level may be used as prognostic factors in traumatic liver injury.
Coma ; Embolization, Therapeutic ; Emergency Service, Hospital ; Humans ; Incidence ; Liver* ; Mortality* ; Odds Ratio ; Patient Admission ; Prognosis ; Retrospective Studies ; Time Factors

OBJECTIVE: The aim of this study was to identify the susceptibility genes responsible for lumbar spondylosis (LS) in Korean patients.METHODS: Data from 1427 subjects were made available for radiographic grading and genome wide association studies (GWAS) analysis. Lateral lumbar spine radiographs were obtained and the various degrees of degenerative change were semi-quantitatively scored. A pilot GWAS was performed using the AffymetrixGenome-Wide Human single-nucleotide polymorphisms (SNPs), 500K array. A total of 352228 SNPs were analyzed and the association between the SNPs and case-control status was analyzed by stepwise logistic regression analyses.RESULTS: The top 100 SNPs with a cutoff p-value of less than 3.7×10⁻⁴ were selected for joint space narrowing, while a cutoff p-value of 6.0×10⁻⁴ was applied to osteophytes and the Kellgren-Lawrence (K-L) osteoarthritis grade. The SNPs with the strongest effect on disc space narrowing, osteophytes, and K-L grade were serine incorporator 1 (rs155467, odds ratio [OR]=17.58, p=1.6×10⁻⁴), stromal interaction molecule 2 (STIM1, rs210781, OR=5.53, p=5×10⁻⁴), and transient receptor potential cation channel, subfamily C (rs11224760, OR=3.99, p=4.8×10⁻⁴), respectively. Leucine-rich repeat-containing G protein-coupled receptor 4 was significantly associated with both disc space narrowing and osteophytes (rs1979400, OR=2.01, p=1.1×10⁻⁴ for disc space narrowing, OR=1.79, p=3×10⁻⁴ for osteophytes), while zinc finger and BTB domain containing 7C was significantly and negatively associated with both osteophytes and a K-L grade >2 (rs12457004,OR=0.25, p=5.8×10⁻⁴ and OR=0.27, p=5.3×10⁻⁴, respectively).CONCLUSION: We identified SNPs that potentially contribute to the pathogenesis of LS. This is the first report of a GWAS in an Asian population.
Asian Continental Ancestry Group ; Case-Control Studies ; Genome-Wide Association Study ; Humans ; Joints ; Logistic Models ; Odds Ratio ; Osteoarthritis ; Osteophyte ; Polymorphism, Single Nucleotide ; Serine ; Spine ; Spondylosis ; Zinc Fingers

BACKGROUND: The purpose of this study is to examine physical characteristics of and initial biological properties to anodized titanium treated with poly(D,L-lactide-co-glycolide) (PLG) mixed with recombinant human bone morphogenic protein-2 (rhBMP-2). METHODS: Titanium specimens were prepared in groups of four as follows: group NC was anodized under 300 V as control; group PC was anodized then dropped and dried with solution 0.02 ml PLG; group D was anodized then dropped and dried with solution 0.02 ml PLG/rhBMP-2 (3.75 µg per disc); and group E was anodized then coated with 0.02 ml PLG/rhBMP-2 (3.75 µg per disc) by electrospray. Human osteoblastic-like sarcoma cells were cultured. Cell proliferation and alkaline phosphatase (ALP) activity test were carried out. Runx-2 gene was investigated by the reverse transcription-polymerase chain reaction. Immunofluorescence outcome of osteogenic proteins was observed. RESULTS: After 3 days, there were significantly higher proliferations compared rhBMP-2 loaded titanium discs with rhBMP-2 unloaded discs. The ALPase activity on rhBMP-2 loaded titanium discs was significantly higher than in rhBMP-2 unloaded discs. The expression level of Runx2 mRNA presented the highest on the PLG/rhBMP-2-coated surface. CONCLUSION: PLG polymers mixed with rhBMP-2 might improve proliferation, differentiation and osteogenic protein formation of cells on the anodized titanium.
Alkaline Phosphatase ; Cell Differentiation ; Cell Proliferation ; Fluorescent Antibody Technique ; Humans ; Polymers ; RNA, Messenger ; Sarcoma ; Titanium*

PURPOSE: Several studies indicate that nonsteroidal anti-inflammatory drugs including aspirin and sulindac reduce the risk of colon cancer. Futhermore, nonsteroidal anti-inflammatory drugs that inhibit the cyclooxygenase (COX) are shown to inhibit the development colon cancer in animal models of carcinogenesis. COX-1 is constitutively expressed to fulfill its beneficial housekeeping roles. COX-2 is not constitutively expressed by most normal tissues, but it is rapidly induced by certain inflammatory cytokines, tumor promoters, growth factors and oncogenes. The purpose of this study is to evaluate the role of COX-2 in colorectal carcinoma development and the correlation between COX-2 expression and tumor angiogenesis and p53 overexpression. METHODS: Immunohistochemical analyses using antibodies against COX-2, factor VIII-related antigen, vascular endothelial growth factor (VEGF) and p53 were carried out on archival specimens of 15 colorectal adenoma and 41 adenocarcinoma. RESULTS: COX-2 expression was increased in 5/15 (33.3%) adenomas and 24/41 (58.5%) adenocarcinomas. COX-2 expression in adenocarcinoma was nearly significantly higher than in adenoma (P=0.050). In adenocarcinoma, COX-2 expression was increased in early cancer (TNM stage) (P=0.028) and well differentiated tumor (P=0.029). COX- 2 expression was not correlated with VEGF expression, microvessel density and p53 overexpression. CONCLUSIONS: These findings indicate that enhanced expression of COX-2 occurs early during colorectal cancer progression. However, further investigations are needed to evaluate the relationship of COX-2 and tumor angiogenesis using other laboratory methods.
Adenocarcinoma* ; Adenoma ; Antibodies ; Aspirin ; Carcinogenesis ; Carcinogens ; Colonic Neoplasms ; Colorectal Neoplasms ; Cyclooxygenase 2* ; Cytokines ; Housekeeping ; Intercellular Signaling Peptides and Proteins ; Microvessels ; Models, Animal ; Oncogenes ; Prostaglandin-Endoperoxide Synthases ; Sulindac ; Vascular Endothelial Growth Factor A ; von Willebrand Factor

PURPOSE: Gastric cancer is the most common cancer in Korea, occurring in 20.8% of all cancer patients, most frequently at the antrum, followed by the body and fundus. Multiple synchronous gastric cancers are reported in 0.8 to 8.3% of all gastric cancers. This study aimed to investigate their clinicopathological features and prognosis. METHODS: Out of 6068 patients that underwent a gastrectomy for gastric cancers at the Department of Surgery, Samsung Medical Center between September 1994 and December 2002, 108 multiple synchronous gastric cancers patients, with more than two lesions, were investigated using a clinicopathological evaluation. RESULTS: The mean age of the subjects was 59.8 years with a male to female ratio of 4.68: 1. The majority of subjects had two lesions , but some had as many as five. A subtotal gastrectomy was performed in 67 and a total gastrectomy in 41 cases. Early stage and advanced gastric cancers were present in 164 and 68 patients, respectively. Fifty-four patients had multiple lesions only at an early stage, 10 at an advanced stage and 44 at both stages. The average tumor sizes of the main and secondary lesions were 39.1 and 23.5 mm, respectively. The lesions were mostly located in the lower two-thirds of the stomach, with 54 having different regions for the main and accessory lesions; one in the each of the upper, middle and lower regions, and seven in the upper and lower regions only. The overall five year survival rate was 89.8%. CONCLUSION: With the generalization of an endoscopic diagnosis, gastric cancers can be diagnosed more quickly and accurately. Despite the rare occurrence of multiple synchronous gastric cancers, the possibility of further lesion, especially in early gastric cancers, should be considered.
Diagnosis ; Female ; Gastrectomy ; Generalization (Psychology) ; Humans ; Korea ; Male ; Prognosis ; Stomach ; Stomach Neoplasms* ; Survival Rate

PURPOSE: The diagnosis and treatment of insulinoma are very important because the tumor can induce critical and permanent neurological deficit. The purpose of this study was to gain an understanding of the clinical features of insulinomas and to establish the diagnostic and therapeutic strategies. METHODS: 17 patients, preoperatively diagnosed with insulinomas and who had undergone surgical management between January, 1998 and March 2004, at the Department of Surgery, Samsung Medical Center, were analyzed. RESULTS: After the operation the 17 patients were diagnosed pathologically; 13 insulinoma, 2 nesidioblastosis, 1 endocrine tumor and 1 endocrine carcinoma. The male to female ratio was 7: 10, with a mean age of 52.3 years. All the patients had symptoms of Whipple triad. The mean duration of symptoms to surgery was 18 months. The preoperative mean blood sugar, plasma insulin, C-peptide and insulin to glucose ratio were 39.6 mg/dl, 47.4muU/ml, 4.8 ng/ml and 1.02 respectively. Preoperative localization was achieved in 15 patients by combining ultrasonography, angiography, abdominal CT and intra-arterial calcium stimulated venous sampling and sensitivity of those examinations were 60, 61.5, 73.3 and 91.7%, respectively. Intraoperative localization was also performed by a combination of manual palpation and intraoperative ultrasonography in 15 patients, with retrospective sensitivities of 86.6 and 100% respectively. The frequenies of head, body and tail were 6: 3: 6. In 2 nesidioblastosis patients, the localization failed both pre- and intraperatively. The types of operations included 11 enucleations, 3 distal pancreatectomies, 2 blind subtotal pancreatectomies and a distal pancreatectomy combined with an extended left hemihepatectomy and intraoperative radiofrequency ablation (RFA) for one patient accompanied by multiple liver metastase. 13 insulinomas were benign, small (mean diameter 1.5 cm, maximum 2.3 cm) and solitary, with the exception of one patient with MEN I. The symptoms of hypoglycemia and the laboratory values were improved in all patients after the operation. CONCLUSION: Insulinomas may be readily localized using sensitive diagnostic tools, such as intra-arterial stimulated venous sampling or intraoperative ultrasonography with manual palpation. If possible, enucleation may be a curative and feasible procedure for benign insulinomas. However, in the case of a highly suspicious nesidioblastosis, a blind partial pancreatectomy may be used as a trail method.
Angiography ; Blood Glucose ; C-Peptide ; Calcium ; Catheter Ablation ; Diagnosis ; Female ; Glucose ; Head ; Humans ; Hypoglycemia ; Insulin ; Insulinoma* ; Liver ; Male ; Multiple Endocrine Neoplasia Type 1 ; Nesidioblastosis ; Palpation ; Pancreas* ; Pancreatectomy ; Plasma ; Retrospective Studies ; Tomography, X-Ray Computed ; Ultrasonography

PURPOSE: Lawn trimmers are widely used to cut the weeds around graves in South Korea, but they can cause ocular injury. We investigate at the emergency room the incidence and the clinical features of ocular trauma induced by lawn trimmers. METHODS: The authors analyzed 106 patients who visited Konyang University Hospital's emergency room from March 1, 2007, to October 31, 2011, because of ocular trauma caused by a lawn trimmer. Patients were sorted into two groups, severe ocular injury and mild ocular injury. RESULTS: Over a 5-year period, 106 patients with ocular trauma caused by a lawn trimmer underwent clinical study. Most of the patient (103 patients) were males, and the average age of the patients was 51.75+/-11.66 years. The incidence of ocular trauma peaked in the sixth decade of life. Most injuries occurred between July and September. Severe ocular injury developed in 46.2% of all patients. As age increased, so did the severity of the ocular injury. The impacting object was a small stone in 43.4% of all patients. Nobody wore protective gear. The most common diagnosis were corneal abrasion, followed by intraocular foreign body, corneal laceration, and sclera laceration. Fifty-four patients were followed up, and thirty-six patients of them had severe injury. The most common complication was a traumatic cataract. CONCLUSION: Ocular trauma induced by a lawn trimmer is more severe than general ocular trauma. We suggest that everyone using a lawn trimmer should wear protective gear and follow safety guidelines.
Cataract ; Emergencies ; Eye Foreign Bodies ; Eye Injuries ; Foreign Bodies ; Humans ; Incidence ; Lacerations ; Male ; Republic of Korea ; Sclera

Zoletil is a non-opioid, non-barbiturate animal anesthetic and proprietary combination of two drugs, a dissociative anesthetic drug, tiletamine, with the benzodiazepine anxiolytic drug, zolazepam. Zoletil has greater potency than ketamine. Zoletil is abused for recreational purposes, especially by people with easy access to medicine. However, in Korea, it is available over-the-counter. Here we report on a case of an 83-year-old woman who received injection of seven vials of "Zoletil 50" by her daughter and presented with an altered mental change. Her mental state was stupor and vital sign was hypotension, bradycardia. Her blood tests indicated metabolic and respiratory acidosis and hyperkalemia. She was treated with intravenous naloxone and flumazenil but was not responsive. She was admitted to the ICU and treated with supportive therapy. Her mental state showed transient recovery, however, her clinical manifestation worsened and she expired.
Acidosis, Respiratory ; Aged, 80 and over ; Animals ; Benzodiazepines ; Bradycardia ; Drug Combinations ; Female ; Flumazenil ; Hematologic Tests ; Humans ; Hyperkalemia ; Hypotension ; Ketamine ; Korea ; Naloxone ; Nuclear Family ; Stupor ; Tiletamine ; Vital Signs ; Zolazepam

PURPOSE: A stylet aids intubation as a glottis by changing and maintaining the bending inside the endotracheal tube and is used as an auxiliary device in intubation. The aim of this experimental study is to evaluate resistance differences among endotracheal tube sizes and the usefulness of lubricant for stylet removal. METHODS: Depending on endotracheal tube size and lubricant use status, the subjects were divided into the control (n=10, each 7 tube sizes), lidocaine gel (n=70), and saline groups (n=70). Using a tensile strength meter, the work and the peak withdrawal force consumed for retracting a stylet were measured. RESULTS: When the work dependent on the endotracheal tube size and stylet coating was compared, significantly less work was consumed for 6.0-, 6.5-, 7.0-, 8.0-, 8.5 mm stylet group coated with lidocaine gel (p=0.029, p=0.002, p=0.001, p=0.001, p<0.001, p<0.001) or 6.0-, 6.5-, 8.0-, 8.5 mm stylets coated with saline compared to the control group (p=0.002, p<0.001, p<0.001, and p<0.001). In comparison of the peak withdrawal force dependent on the endotracheal tube size and stylet coating, significantly less peak withdrawal force was consumed for the 6.0- or 8.0- mm stylet group coated with lidocaine gel (p=0.004, p<0.001) or 6.0-, 6.5-, 7.5-, or 8.0 mm stylets coated with saline compared to the control group (p=0.025, p=0.001, p=0.008, and p=0.001). CONCLUSION: We found that the effectiveness of lubricant resulted in various sized tubes. Less work was consumed for five tube sizes (6.0-, 6.5-, 7.0-, 8.0-, 8.5 mm) in lidocaine gel groups and four tube sizes (6.0-, 6.5-, 8.0-, 8.5 mm) in saline groups. Less peak withdrawal force was consumed for two tube sizes (6.0-, 8.0 mm) in lidocaine gel groups and four tube sizes (6.0-, 6.5-, 7.5-, 8.0 mm) in saline groups.
Device Removal ; Friction ; Glottis ; Intubation ; Intubation, Intratracheal ; Lidocaine ; Lubricants ; Tensile Strength