OBJECTIVES: Gastrectomy with lymph node dissec tion is the standard treatment for early gastric can cer(EGC). However, patients who have high risks demand modifications in surgical treatment for EGC. Recently, endoscopic mucosal resection(EMR) has become accepted in many institutions as a treatment for cancerous mucosal lesions of the stomach. Thus we investigated the efficacy and safety of EMR prospectively in the patients with EGC who have high risks in surgery and those with premalignant lesions. METHOD: Twenty-five patients were treated with EMR, thirteen were EGC and twelve were premalignant lesions such as tubular adenoma, severe dysplasia. We used standard snare method and endoscopic mucosal resection using a band ligation kits(EMRL). RESULTS: The complete resection rate at the first step of EMR was 100%(12/12) in premalignant lesions, 76.9%(10/13) in EGC. Of three EGC resected incomple tely at the first step, one patient was treated by surgery and two patients underwent the third step of EMR. The final complete resection rate was 92%(23/25) and it was 100%(12/12) in the premalignant lesions, 84.6%(11/13) in EGC. The final complete resection rate in according to the methods was 100%(5/5) by standard snare method, 75%(6/8) by EMRL. As pathologic results, all cases of EGC were limited to the mucosa. No serious complications such as perforation, major bleeding were encountered. CONCLUSION: We consider that EMR is effective and safe in treatment of the patients with EGC who have high risks in surgery and those with premalignant lesions.
Adenoma ; Gastrectomy ; Hemorrhage ; Humans ; Ligation ; Lymph Nodes ; Mucous Membrane ; Prospective Studies ; SNARE Proteins ; Stomach ; Stomach Neoplasms*

Ankylosing spondylitis (AS) is a chronic autoinflammatory disease that affects the spine and sacroiliac joints. Regarding its etiology, although HLA-B27 is known to be the strongest genetic factor of AS, much evidence suggests the potential contribution of non-MHC genes to the susceptibility to AS. Most of these non-MHC genes have been discovered in non-Asian populations; however, just some of them have been validated in Koreans. In this study, we aimed to identify additional AS-associated single-nucleotide polymorphism (SNP) candidates by replicating the candidate SNPs in Korean AS patients and healthy controls. For this, we selected three SNPs (rs11249215 in RUNX3, rs6556416 in IL12B, and rs8070463 in TBKBP1), which were previously reported as risk factors of AS but have not been studied in Koreans, and performed genotyping assays using a total of 1138 Korean samples (572 AS patients and 566 healthy controls). Of the three SNP candidates, one SNP in RUNX3 (rs11249215) was significantly associated with the risk of AS (odds ratio, 1.31; 95% confidence interval, 1.02 to 1.68, p = 0.03). These results will be helpful in elucidating the pathogenesis of AS and may be useful for developing AS risk prediction models in Koreans.
HLA-B27 Antigen ; Humans ; Polymorphism, Single Nucleotide ; Risk Factors ; Sacroiliac Joint ; Spine ; Spondylitis, Ankylosing*

Although spontaneous bacterial peritonitis is a frequent complication in the childhood nephrotic syndrome, it is very rare in adults with nephrotic syndrome. It frequently develops when the patients are either in relapse or receiving steroid therapy at the time peritonitis is diagnosed. We report an unusual case of a spontaneous bacterial peritonitis as the presenting feature in a 15-year-old male patient with nephrotic syndrome. He presented with diffuse abdominal pain and distension for 15 days. Abdominal paracentesis revealed the diagnostic laboratory findings of peritonitis, and the bacterial culture of the ascites showed a mixed growth of Escherichia coli and Pseudomonas aeruzinosa. His serum albu- min level was 1.6gldL and the amount of 24 hours proteinuria was 21.0g/day. Although he was treated with adequate antibiotics for 3 weeks, the peritonitis was more aggravated. We decided to insert a catheter into the peritoneal cavity for continuous drainage of the intractable ascites. Two weeks after drainage, the peritonitis improved as the peritonitis subsided, the proteinuria disappeared completely without a steroid therapy. Six months after spontaneous remission, the proteinuria have recurred, and the kidney biopsy then showed focal segmental glomerulorsclerosis.
Abdominal Pain ; Adolescent ; Adult ; Anti-Bacterial Agents ; Ascites ; Biopsy ; Catheters ; Drainage ; Escherichia coli ; Humans ; Kidney ; Male ; Nephrotic Syndrome* ; Paracentesis ; Peritoneal Cavity ; Peritonitis* ; Proteinuria ; Pseudomonas ; Recurrence ; Remission, Spontaneous

Apraxia of lid opening (ALO) has been suggested to be a dysfunction of the supranuclear control of the levator palpebrae superioris caused mainly by basal ganglial lesion. The hypometabolism of the medial frontal lobe may be a pathophysiologic mechanism in ALO. We report two ALO patients who developed these symptoms as a delayed complication after traumatic brain injury (TBI). Their MRI showed encephalomalacia in the Rt. medial frontal cortex, which was not shown in initial brain CT scans. Delayed pathologic changes after TBI may contribute to the development of ALO in these cases.
Apraxias* ; Brain ; Brain Injuries* ; Encephalomalacia ; Frontal Lobe ; Humans ; Magnetic Resonance Imaging ; Tomography, X-Ray Computed

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple organ systems. Although the etiology of SLE remains unclear, it is widely accepted that genetic factors could be involved in its pathogenesis. A number of genome-wide association studies (GWASs) have identified novel single-nucleotide polymorphisms (SNPs) associated with the risk of SLE in diverse populations. However, not all the SNP candidates identified from non-Asian populations have been validated in Koreans. In this study, we aimed to replicate the SNPs that were recently discovered in the GWAS; these SNPs have not been validated in Koreans or have only been replicated in Koreans with an insufficient sample size to conclude any association. For this, we selected five SNPs (rs1801274 in FCGR2A and rs2286672 in PLD2, rs887369 in CXorf21, rs9782955 in LYST, and rs3794060 in NADSYN1). Through the replication study with 656 cases and 622 controls, rs1801274 in FCGR2A was found to be significantly associated with SLE in Koreans (odds ratio, 1.26, 95% confidence interval, 1.06 to 1.50; p = 0.01 in allelic model). This association was also significant in two other models (dominant and recessive). The other four SNPs did not show a significant association. Our data support that FCGR polymorphisms play important roles in the susceptibility to SLE in diverse populations, including Koreans.
Autoimmune Diseases ; Genome-Wide Association Study ; Lupus Erythematosus, Systemic ; Polymorphism, Single Nucleotide ; Sample Size

Copper is an essential trace element for numerous vital enzymes. Recently, copper can be used clinically as assessing the disease activity, prognosis, therapeutic effect and early prediction of recurrence in patient with neoplasia. But overloading of copper can cause fatal outcome. Copper intoxication is usually encountered following accidental ingestion or suicidal intoxication. A 43-year old male was admitted because of epigastric pain and hematuria after ingestion of the copper hydroxide and organophosphate for suicidal purpose. The laboratory findings showed that the serum and urinary copper concentration are elevated, then the acute renal failure, hemolytic anemia and liver injury progressed. With conservative management, the hemolytic anemia was improved, but disseminated intravascular coagulation with sepsis and respiratory failure by pneumonia were developed, and then finally expired on the eighth hospital days. We experienced a case of a patient who presented with acute renal failure, hemolytic anemia and liver injury after ingestion of copper, and we reported with review of literature.
Acute Kidney Injury ; Adult ; Anemia, Hemolytic ; Copper* ; Disseminated Intravascular Coagulation ; Eating ; Fatal Outcome ; Hematuria ; Humans ; Liver ; Male ; Pneumonia ; Prognosis ; Recurrence ; Respiratory Insufficiency ; Sepsis

Highly pathogenic avian influenza (HPAI) viruses have caused severe respiratory disease and death in poultry and human beings. Although most of the avian influenza viruses (AIVs) are of low pathogenicity and cause mild infections in birds, some subtypes including hemagglutinin H5 and H7 subtype cause HPAI. Therefore, sensitive and accurate subtyping of AIV is important to prepare and prevent for the spread of HPAI. Next-generation sequencing (NGS) can analyze the full-length sequence information of entire AIV genome at once, so this technology is becoming a more common in detecting AIVs and predicting subtypes. However, an analysis pipeline of NGS-based AIV sequencing data, including AIV subtyping, has not yet been established. Here, in order to support the pre-processing of NGS data and its interpretation, we developed a user-friendly tool, named prediction of avian influenza virus subtype (PAIVS). PAIVS has multiple functions that support the pre-processing of NGS data, reference-guided AIV subtyping, de novo assembly, variant calling and identifying the closest full-length sequences by BLAST, and provide the graphical summary to the end users.

Background: Lung adenocarcinoma (LUAD) with ground-glass opacity (GGO) can become aggravated, but the reasons for this aggravation are not fully understood. The goal of this study was to analyze the genetic features and causes of progression of GGO LUAD. Methods: LUAD tumor samples and normal tissues were analyzed using an Illumina HiSeq 4000 system. After the tumor mutational burden (TMB) was calculated, the identified mutations were classified as those found only in GGO LUAD, those present only in nonGGO LUAD, and those common to both tissue types. Ten high-frequency genes were selected from each domain, after which protein interaction network analysis was conducted. Results: Overall, 227 mutations in GGO LUAD, 212 in non-GGO LUAD, and 48 that were common to both tumor types were found. The TMB was 8.8 in GGO and 7.8 in non-GGO samples. In GGO LUAD, mutations of FCGBP and SFTPA1 were identified. FOXQ1, IRF5, and MAGEC1 mutations were common to both types, and CDC27 and NOTCH4 mutations were identified in the non-GGO LUAD. Protein interaction network analysis indicated that IRF5 (common to both tissue types) and CDC27 (found in the non-GGO LUAD) had significant biological functions related to the cell cycle and proliferation. Conclusion In conclusion, GGO LUAD exhibited a higher TMB than non-GGO LUAD. No clinically meaningful mutations were found to be specific to GGO LUAD, but mutations involved in the epithelial-mesenchymal transition or cell cycle were found in both tumor types and in non-GGO tissue alone. These findings could explain the non-invasiveness of GGO-type LUAD.

Highly pathogenic avian influenza (HPAI) viruses have caused severe respiratory disease and death in poultry and human beings. Although most of the avian influenza viruses (AIVs) are of low pathogenicity and cause mild infections in birds, some subtypes including hemagglutinin H5 and H7 subtype cause HPAI. Therefore, sensitive and accurate subtyping of AIV is important to prepare and prevent for the spread of HPAI. Next-generation sequencing (NGS) can analyze the full-length sequence information of entire AIV genome at once, so this technology is becoming a more common in detecting AIVs and predicting subtypes. However, an analysis pipeline of NGS-based AIV sequencing data, including AIV subtyping, has not yet been established. Here, in order to support the pre-processing of NGS data and its interpretation, we developed a user-friendly tool, named prediction of avian influenza virus subtype (PAIVS). PAIVS has multiple functions that support the pre-processing of NGS data, reference-guided AIV subtyping, de novo assembly, variant calling and identifying the closest full-length sequences by BLAST, and provide the graphical summary to the end users.