PURPOSE: To investigate the effect of vigabatrin (VGB) as a therapeutic agent for patients with infantile spasms (IS), compare risk factors for treatment response, and review safety of VGB by assessing its side effects. METHODS: Among 35 patients admitted to the Department of Pediatric Neurology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea who received initial monotherapy with VGB under diagnosis of IS, 23 patients who met our inclusion criteria were enrolled and their medical records were retrospectively reviewed. RESULTS: Of these 23 patients, average age at diagnosis was 7.26±4.8 months and average age at spasms was 6.20±3.8 months. Average treatment lag was 1.09±1.8 months. Thirteen patients (56.5%) achieved seizure free status. There was no ophthalmic complication among patients. Remission of hypsarrhythmia at 3 and 6 months after treatment was a good prognostic factor (P=0.026 and P=0.004, respectively). CONCLUSION VGB is effective enough to become a first-line drug for children with IS. Better prognosis can be expected in patients with clinical remission of hypsarrhythmia on electroencephalography after treatment initiation using VGB compared to those who do not have such remission. Regular eye examination and follow-up check-up are also needed in parallel with the use of VGB.

No abstract available.
Eating* ; Furosemide* ; Nephrocalcinosis*

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by the degeneration of motor neurons. Mutations in Cu/Zn superoxide dismutase (SOD1), including G93A, were reportedly linked to familial ALS. SOD1 is a key antioxidant enzyme, and is also one of the major targets for oxidative damage in the brains of patients suffering from Alzheimer's disease (AD). Several lines of evidence suggest that intracellular amyloid beta (Abeta) is associated with the pathogenesis of AD. In this report we demonstrate that intracellular Abeta directly interacts with SOD1, and that this interaction decreases the enzymatic activity of the enzyme. We observed Abeta-SOD1 aggregates in the perinuclear region of H4 cells, and mapped the SOD1 binding region to Abeta amino acids 26-42. Interestingly, intracellular Abeta binds to the SOD1 G93A mutant with greater affinity than to wild-type SOD1. This resulted in considerably less mutant enzymatic activity. Our study implicates a potential role for Abeta in the development of ALS by interacting with the SOD1 G93A mutant.
Amino Acid Sequence ; Amyloid beta-Protein/chemistry/*metabolism ; Amyotrophic Lateral Sclerosis/*enzymology ; Apoptosis ; Cell Line ; Cell Line, Tumor ; Humans ; Molecular Sequence Data ; Point Mutation ; Protein Binding ; Protein Interaction Domains and Motifs ; Superoxide Dismutase/genetics/*metabolism

Appendiceal intussusception is a rare disease with variable clinical findings, ranging from acute appendicitis to chronic recurrent abdominal pain or rectal bleeding. Occasionally, it is incidentally discovered with no symptoms. Because a preoperative diagnosis is difficult, it can be diagnosed either after surgery, in the case of acute appendicitis, or after a polypectomy, based on being mistaken for a polyp. During a colonoscopy, an appendiceal intussusception should be suspected if the appendiceal orifice is not observed at the cecum and there is a polypoid lesion at the location where the appendiceal orifice is expected. Treatments are usually determined according to preceding diseases. It is important that the colonoscopist avoid careless endoscopic removal by mistaking the intussusception for a polyp.
Abdominal Pain ; Appendicitis ; Cecum ; Colonoscopy ; Hemorrhage ; Intussusception ; Polyps ; Rare Diseases

PURPOSE: We retrospectively investigated to find out the equation of calculating the probability of minimal change nephrotic syndrome (MCNS) using clinical parameters. We prospectively investigated to determine the usefulness of the mathematical model. METHODS: We retrospectively examined 56 patients with nephrotic syndrome (NS) (30 MCNS and 26 non-MCNS) diagnosed by kidney biopsy. A mathematical model for calculating the probability of MCNS was obtained through multiple logistic analysis in SAS statistics package. In addition, we prospectively studied 28 patients with NS. Clinical MCNS and non-MCNS were classified according to the probability of 85% in the mathematical model. Kidney biopsy was performed, and serum albumin and urinalysis were measured after 2 weeks of steroid treatment. RESULTS: In the retrospective study, the mathematical model was P=ea/(1+ea), a=17.2507 - 5.5777xON - 4.2256xALB-0.000579x24PROT - 1.2569xUBL+2.1703xUAL. The mode of onset (ON), 24 hours urine protein (24PROT), serum albumin concentration (ALB), the grade of hematuria (UBL) and proteinuria (UAL) were included as clinical parameters. At the probability of 85%, the sensitivity and specificity for predicting MCNS was 73.3% and 100% respectively. In the prospective study, the result of kidney biopsy was consistent with clinical MCNS and non-MCNS according to a mathematical model. All clinical MCNS showed negative proteinuria on urinalysis and a significant increase in serum albumin after 2 weeks treatment (1.85+/-0.30 g/dL to 2.88+/-0.26 g/dL, p<0.05). CONCLUSION: We conclude that the mathematical model for predicting the probability of MCNS may be useful in diagnosis of the MCNS.
Biopsy ; Diagnosis ; Hematuria ; Humans ; Kidney ; Models, Theoretical* ; Nephrosis, Lipoid* ; Nephrotic Syndrome ; Prospective Studies ; Proteinuria ; Retrospective Studies ; Sensitivity and Specificity ; Serum Albumin ; Urinalysis

BACKGROUND/AIMS: For the endoscopic treatment of benign biliary strictures (BBS), it has been a drawback to use plastic stents or uncovered self-expandable metal stents. We investigated the efficacy and safety of temporary placing fully covered self-expandable metal stents (FCSEMS) in BBS. METHODS: We enrolled 12 cases that followed up more than 6 months after insertion of a FCSEMS in BBS via ERCP. The cohort consisted of 9 patients with recurrent cholangitis, 2 patients with postcholecystectomy and 1 patient with chronic pancreatitis. The efficacy was assessed according to the resolution of strictures and also the restricture after stent removal, and the safety was evaluated according to the complications associated with stent placement. Finally, the removability of FCSEMSs was assessed. RESULTS: The median time of FCSEMS placement was 6.0 months. Resolution of the BBS was confirmed in 8 cases (67%) after a median post-removal follow-up of 8.5 months. Restricture after stent removal happened in 4 cases (33%). The complications were severe abdominal pain (n=2), pancreatic abscess (n=1) and stent migration (n=6). In 7 cases, all the FCSEMSs were successfully removed by grasping them with forceps. CONCLUSIONS: Temporary placement of a FCSEMS in BBS showed good therapeutic effects, relative safety and easy removability. Further evaluation is needed for determining the causes of restricture and for developing a new stent with antimigration features.
Abdominal Pain ; Abscess ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis ; Cohort Studies ; Constriction, Pathologic ; Follow-Up Studies ; Hand Strength ; Humans ; Pancreatitis, Chronic ; Plastics ; Stents

BACKGROUND: Recently, G1 cells, characterized by distinctive doughnut-like shape with blebs have been reported as a reliable marker for glomerular hematuria. We investigated the validity of the urinary G1 cells in distingushing glomerular from non-glomerular hematuria. In addition, we evaluate the influence of urine osmolality, pH and proteinuria on dysmorphic erythrocytes and G1 cells. METHODS: One hundred and twenty patients with hematuria including 60 glomerular (GH) and 60 non- glomerular hematuria (NGH) were examined. The percentage of urinary dysmorphic erythrocytes and G1 cells using phase-contrast microscopy was determined. Urine osmolality, pH, and spot urine protein/ creatinine ratio were examined. RESULTS: The proportion of G1 cells differed significantly between the two group (7.8+/-16.0% in GH vs. 0% in NGH, p<0.05). At the cut-off value of 50 % dysmorphic erythrocytes, the sensitivity and specificity for the detection of GH was 88.3% and 93.3%, respectively. At the cut-off value of 1% G1 cells, sensitivity and specificity were 60.0% and 100%, respectively. When both of 50% dysmorphic erythrocytes and 1% G1 cells were considered as the cut-off value, the sensitivity and specificity were 91.0% and 100%, respectively. There was a significant difference in the percentage of dysmorphic erythrocytes and G1 cells at different urine pH. There was a significant correlation between urine osmolality and dysmorphic erythrocytes (r=0.41, p< 0.05), but not for G1 cells. No significant correlations were observed between G1 cells and proteinuria or pH. CONCLUSION: Evaluation of both urinary G1 cell and dysmorphic erythrocytes at the same time could improve the diagnostic value for differentiating glomerular hematuria.
Blister ; Creatinine ; Erythrocytes ; Hematuria* ; Humans ; Hydrogen-Ion Concentration ; Microscopy, Phase-Contrast ; Osmolar Concentration ; Proteinuria ; Sensitivity and Specificity

BACKGROUND: The presence of late potentials on the signal-averaged electrocardiography (SAECG) is predictive of ventricular tachycardia and sudden cardiac death. We investigated the acute effect of HD on the SAECG in patients with end-stage renal disease (ESRD). METHODS: Twenty HD patients with normal sinus rhythm on a routine ECG were enrolled. SAECGs were recorded immediately before, within 30 minute after, and then 24 hour after the completion of HD. Serum electrolyte, BUN, calcium, echocardiogram and body weight were examined before and after the HD. RESULTS: Positive late potentials on SAECG were detected in 8 patients (40%) before HD, 12 patients (60%) at 30 minute after HD, and 5 patients (25%) at 24 hour after HD. There was a significant change in QRSd (QRS duration) after HD: (110.3+-9.7 msec before HD; 112.3+-9.3 msec at 30 minute after HD; 109.5+-8.6 msec at 24 hour after HD) (p<0.05). The reduction of serum potassium was greater in positive late potential (n=12) than in negative late potential group after HD (n=8) (p<0.05). A significant negative correlation was seen between the changes of dialysis-induced serum total CO2 and QRSd changes (r=-0.534, p<0.05). CONCLUSION: SAECG parameters tended to be aggravated after HD in patient with ESRD. Prolongation of QRSd after HD could be explained by the changes of potassium and bicarbonate.
Body Weight ; Calcium ; Death, Sudden, Cardiac ; Electrocardiography* ; Humans ; Kidney Failure, Chronic* ; Potassium ; Renal Dialysis* ; Tachycardia, Ventricular

BACKGROUND: Rhabdomyolysis is a well known cause of the exercise induced acute renal failure (ARF), but the patch renal vasoconstriction with severe loin pain which developed after the anaerobic exercise is not. Although there are a few cases about ARF resulted from the patchy renal vasoconstriction in Korea, there are only a few reports about comparisons of their clinical manifestations. METHODS: Eight patients of ARF with severe loin pain after the exercise, were admitted to Chungbuk national university hospital from April 1994 to March 2004. For all patients, we obtained basic clinical findings and laboratory studies, and performed an enhanced computed tomography (CT) initially and delayed CT without contrast media at least 6 hours after. RESULTS: All the patients were previously healthy young men. The main symptom was loin pain in five patients and all patients experienced the anaerobic exercise before. Six patients took analgesics and fever was observed in seven patients. There was no marked elevation of creatinine phosphokinase (CPK). The initial mean creatinine (Cr) was 3.50+/-1.49 mg/dL and the maximum Cr was 8.8 mg/dL. All the patients fully recovered their renal function. We observed the typical patchy wedge-shaped contrast enhancement CT findings in seven patients. CONCLUSION: Differential diagnosis between rhabdomyolysis and the patchy renal vasoconstriction in newly developed ARF after exercise is important. Our eight patients showed typical clinical manifestations. In cases which implicate the pathy renal vasoconstriction by their typical clinical findings, the enhanced CT and the delayed postcontrast CT are helpful for diagnosis.
Acute Kidney Injury* ; Analgesics ; Chungcheongbuk-do ; Contrast Media ; Creatinine ; Diagnosis ; Diagnosis, Differential ; Fever ; Humans ; Korea ; Male ; Rhabdomyolysis ; Vasoconstriction