BACKGROUND/AIMS: Despite numerous studies on the relation of genetic polymorphisms with irritable bowel syndrome (IBS), the results still remain inconclusive. The aim of this study was to assess the possible association between SLC6A4 serotonin transporter gene linked polymorphic region (5-HTTLPR), ADRA2A -1291C>G, GNB3 825C>T, CCK1R intron 779T>C and TRPV1 945G>C polymorphisms and IBS based on Rome III criteria in Korea. METHODS: Study subjects were prospectively recruited from visitors to Seoul National University Bundang Hospital between July 2009 and January 2014. Ninety-nine IBS patients and 171 healthy controls were enrolled. Polymorphisms of above-mentioned 5 genes were genotyped. Serum serotonin from 101 participants was measured by ELISA and compared according to SLC6A4 5-HTTLPR polymorphisms and IBS subtypes. RESULTS: Regarding SLC6A4 5-HTTLPR polymorphism, L/L genotype was significantly associated with the total IBS, constipation predominant IBS (IBS-C) and mixture of diarrhea and constipation IBS (IBS-M) (adjusted OR: 4.35, 95% CI: 1.04-16.67; adjusted OR: 11.11, 95% CI: 1.69-50.00 and adjusted OR: 5.56, 95% CI: 1.05-33.33, respectively). Carrying ADRA2A -1291G allele was significantly associated with total IBS and diarrhea predominant IBS (adjusted OR: 3.37, 95% CI: 1.16-9.77 and adjusted OR: 5.64, 95% CI: 1.18-27.01, respectively). IBS-C patients showed reduced level of serum serotonin compared to controls and patients with diarrhea predominant IBS (50.2 ng/mL vs. 69.0 ng/mL and 92.9 ng/mL, P = 0.017 and P = 0.001, respectively). CONCLUSIONS: Genetic polymorphisms of SLC6A4 5-HTTLPR and ADRA2A -1291C>G could be one of the pathophysiological factors of IBS in Korea. Reduced serum serotonin shown in the IBS-C group suggested a role of serotonin in IBS, but large study is needed for confirming genotypic difference in serum serotonin level.
Alleles ; Constipation ; Diarrhea ; Enzyme-Linked Immunosorbent Assay ; Genotype ; Humans ; Introns ; Irritable Bowel Syndrome* ; Korea ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Prospective Studies ; Receptors, Adrenergic ; Seoul ; Serotonin ; Serotonin Plasma Membrane Transport Proteins*

Angiodysplasia has been recognized as an important cause of lower gastrointestinal bleeding, but it is difficult to confirm the lesions. Angiodysplasia in the small bowel could be the most probable cause of bleeding particularly in the elderly patients when usual methods fail to document the focus. Small bowel angiodysplasias have been diagnosed by angiography and/or surgery at the sites where usual endoscope could not reach, and treated by medical therapy, angiographic embolization or surgery. We experienced a case of a bleeding angiodysplasia in the terminal ileum in a 51-year-old man who was taking anti-platelet agents. The lesion was diagnosed by colonoscopy, and bleeding was easily controlled with hemoclipping.
Aged ; Angiodysplasia* ; Angiography ; Colonoscopy ; Endoscopes ; Hemorrhage* ; Humans ; Ileum* ; Middle Aged

Hepatitis B virus x gene product (HBx) is known to be a transactivator of transcriptional elements that regulate the expression of a variety of genes associated with the growth, differentiation, survival and the apoptosis of cells. However, the exact mechanism of the activation and inhibition of cellular events by HBx remains uncertain. The present study was designed to measure the effect of HBx, on the signal transduction pathways associated with intracellular Ca(2+)mobilization following HBx transfection in the stable Chang liver cells (CHL-X). Enhanced cell proliferation by HBx in CHL-X was confirmed by MTT assay and by the immunodetection of PCNA. The transactivation of AP-1 by HBx induced in CHL-X was inhibited by cyclosporin A (CsA), a mitochondrial Ca(2+)channel blocker and by BAPTA-AM, a cytosolic Ca(2+)blocker. Activation of the SAPK/JNK signaling pathway by HBx was evidenced by the increased phosphorylations of c-Jun (Ser63) and of JNK (Thr183/Tyr185). Increased phospho-Erk/Erk and phospho-Raf1/Raf in HBx-induced CHL-X indicated that HBx might stimulate the MAPK pathway. PI3K activity and cytosolic free Ca(2+)levels were elevated in HBx-induced CHL-X. These results imply that HBx transactivates both JNK and MAPK signal transduction pathways in association with the mobilization of cytosolic Ca(2+).
1-Phosphatidylinositol 3-Kinase/metabolism ; Calcium/*metabolism ; Calcium Signaling/*physiology ; Cell Division ; Hepatitis B Virus/*metabolism ; Human ; Liver/*metabolism ; Mitogen-Activated Protein Kinases/metabolism ; Trans-Activators/*metabolism ; Transcription Factor AP-1/metabolism

A 54-year-old woman with diabetes mellitus was hospitalized with generalized edema and weakness. She was also found to have hypertension, hypokalemia and metabolic alkalosis. Detailed examination showed subnormal plasma renin activity and plasma aldosterone concentration. Adrenal CT scanning revealed no adrenal tumor. A successful treatment with amiloride established the diagnosis of Liddle's syndrome for the patient. Liddle's syndrome, a rare hereditary disease usually found in young patients, should be considered in the differential diagnosis of hypertension even in elderly individuals.
Aldosterone/deficiency* ; Aldosterone/blood ; Alkalosis/genetics* ; Case Report ; Female ; Human ; Hypertension/etiology ; Hypokalemia/genetics* ; Middle Age ; Renin/deficiency* ; Renin/blood ; Syndrome

Situs inversus totalis with dextrocardia is a rare congenital anomaly and its incidence is approximately 1: 6,000-35,000 in general population. Such patients usually have structurally normal hearts and are expected to have normal life span. Coronary angioplasty in such patients have previously been reported, but reported cases in literature are scanty. This report describes our experience of successful percutaneous transluminal coronary angioplasty with stent in acute myocardial infarction patient with situs inversus totalis and dextrocardia who exhibited total occlusion of the mid left anterior descending coronary artery.
Angioplasty ; Angioplasty, Balloon, Coronary* ; Coronary Vessels ; Dextrocardia ; Heart ; Humans ; Incidence ; Myocardial Infarction* ; Situs Inversus* ; Stents*

We report a 48-year-old man with laryngeal cancer who received a massive cisplatin toxic overdose without intravenous prehydration through an error in prescription. He received 400 mg/m2 of cisplatin over a 4-day period. On day 4, he exhibited a broad range of cisplatin toxicities and emergency plasma exchange was started. From day 5 through 19, he underwent 9 cycles of plasma exchange and his plasma cisplatin concentration decreased from 2,470 ng/ml to 216 ng/ml. He completely recovered without any sequelae. No previous reports exist in the English literature of survival without complication after the administration of such a high cisplatin dosage without prehydration.
Antineoplastic Agents/*poisoning ; Case Report ; Cisplatin/*poisoning ; Human ; Male ; Middle Age ; Overdose/therapy ; *Plasma Exchange

Fabry disease, angiokeratoma corporis diffusum, is a rare X-linked inborn error of glycosphingolipid metabolism due to the lack of the lysosomal enzyme, alpha-galactosidase A, resulting in a progressive deposition of specific neutral glycosphingolipids within the lysosomes of endothelial and smooth muscle cells of the cardiovascular and renal systems predominantly. We reported a case of Fabry disease, following renal biopsy for the investigation of proteinuria(Creatinine clearance 87.28 mL/min/1.73, serum creatinine 1.1 mg/dL, 24-hour urine protein 1,125 mg, 24-hour urine creatinine 1,382 mg). The patient was 46 year old male. He had experienced anterior chest pain regarded as angina pectoris for a few years. A 12- lead electrocardiogram was abnormal(T-wave inversion in II, III, AVF, and V3-V6), but echocardiography and coronary angiography revealed no abnormal. Kidney biopsy findings showed lamella inclusion bodies on electron microscopy, which are typical finding of Fabry disease. The patient is followed at O.P.D without any significant complaints for 18 months after diagnosis of Fabry disease.
alpha-Galactosidase ; Angina Pectoris ; Biopsy* ; Chest Pain ; Coronary Angiography ; Creatinine ; Diagnosis ; Echocardiography ; Electrocardiography ; Fabry Disease* ; Humans ; Inclusion Bodies ; Kidney ; Lysosomes ; Male ; Metabolism ; Microscopy, Electron ; Middle Aged ; Myocytes, Smooth Muscle ; Neutral Glycosphingolipids ; Proteinuria*

BACKGROUND: Recently, the amiodarone has emerged as a promising antiarrhythmic agent and its efficacy and safety has been widely accepted with many literatures. But there was no general agreement regarding the dosage and indication of intravenous (IV) amiodarone in acute myocardial infarction with life-threatening refractory ventricular tachyarrhythmias. METHOD: From October 1995 through October 1997, we recruited retrospectively 9 patients of acute myocardial infarction who had received IV amiodarone for life-threatening refractory ventricular tachyarrhythmias and analyzed the initial response, adverse effect, and loading dose. RESULTS: 1) Acute efficacy:Eight of 9 patients promptly restored normal sinus rhythm immediately after intravenous amiodarone administration. 2) In-Hospital Mortality:One patients died due to ventricular tachyarrhythmias refractory to aggressive management and 5 in 8 patients who had responded promptly with IV amiodarone discharged alive and other 3 patients died due to cardiogenic shock with normal sinus rhythm. 3) Immediate adverse effects:Five patients experienced immediate adverse effects after IV amiodarone; 3 patients of hypotension, 1 patient of first degree AV block, and the other of Morbitz type 2 AV block. 4) Long term follow-up:Among 5 patients discharged alive, one died as unexpected consequence. Other 4 patients have been still alive without maintenance medication. CONCLUSION: The IV amiodarone for suppression of life-threatening ventricular tachyarrhythmias in patients with acute myocardial infarction seemed to be an effective second-line therapeutic drug and have acceptable adverse effects. In the future, the large scale study regarding the dosage and indication might be warrented.
Amiodarone* ; Atrioventricular Block ; Humans ; Hypotension ; Myocardial Infarction* ; Retrospective Studies ; Shock, Cardiogenic ; Tachycardia*

Pyelocaliceal diverticula are eventrations of the upper collecting system, lying within the renal parenchyma and communicating with the main collecting system via a narrow channel. They may be detected in as many as 0.5% of excretory urograms but are usually small(<1cm in diameter) and asymptomatic. Urinary stasis may predispose patient to infection or stone formation. Rarely, transitional cell carcinoma originates within the diverticulum. Symptomatic, complicated diverticula should be treated by 5 different therapeutic alternatives which is open surgery, a percutaneous approach, shock wave lithotripsy ureterorenoscopy and retroperitoneoscopy. We report a incidentally found calculi-containing type I pyelocalyceal diverticulum patient who initially presented with epigastric pain.
Carcinoma, Transitional Cell ; Deception ; Diverticulum* ; Humans ; Lithotripsy ; Shock

Pyelocaliceal diverticula are eventrations of the upper collecting system, lying within the renal parenchyma and communicating with the main collecting system via a narrow channel. They may be detected in as many as 0.5% of excretory urograms but are usually small(<1cm in diameter) and asymptomatic. Urinary stasis may predispose patient to infection or stone formation. Rarely, transitional cell carcinoma originates within the diverticulum. Symptomatic, complicated diverticula should be treated by 5 different therapeutic alternatives which is open surgery, a percutaneous approach, shock wave lithotripsy ureterorenoscopy and retroperitoneoscopy. We report a incidentally found calculi-containing type I pyelocalyceal diverticulum patient who initially presented with epigastric pain.
Carcinoma, Transitional Cell ; Deception ; Diverticulum* ; Humans ; Lithotripsy ; Shock