Sulfonylurea Therapy in Two Korean Patients with Insulin-treated Neonatal Diabetes due to Heterozygous Mutations of the KCNJ11 Gene Encoding Kir6.2

Permanent neonatal diabetes (PND) is a rare form of diabetes characterized by insulin-requiring hyperglycemia diagnosed within the first three months of life. In most cases, the causes are not known. Recently, mutations in the KCNJ11 gene encoding the Kir6.2 subunit of the ATP-sensitive K(+) channel have been described in patients with PND. We report the first two Korean cases with PND due to a lysineto- arginine substitution at position 170 (K179R) and a valine-to-methionine substitution at position 59 (V59M) mutations of KCNJ11 encoding Kir6.2, respectively. After several years of insulin therapy, these patients were managed by oral glibenclamide therapy at a daily dose of 0.8-0.9 mg/kg. Their basal c-peptide levels increased after one week of glibenclamide therapy, and one month later, the insulin and c-peptide levels were in the normal ranges without any episodes of hyper- or hypoglycemia. These cases demonstrate that oral sulfonylurea may be the treatment of choice in PND patients with KCNJ11 mutations even at a young age.

Analysis of the Evaluation for Clinical Performance Examination using Standardized Patients in one Medical School / 한국의학교육

PURPOSE: Analysis of the evaluation for clinical performance examination (CPX) using standardized patient (SP) in one medical school was done to compare the evaluations between the staffs and SPs, among the staffs, and among the SPs, and to investigate the correlation between the evaluation scores and the school record. METHODS: Clinical performance examination was done to seventy-nine 4th grade medical students. Checklist was modified from the existing reference and added more items. Three SPs who were non-physician volunteers were trained by authors about what is the disease and how to act the patient and how to evaluate the students. Three staffs and three SPs both filled up the checklist at the same time right after each student's performance. RESULTS: Agreements between the staffs and the SPs were relatively high enough in the items of physical examination and management but low in the history taking related items although they were statistically significant. In the evaluation between the staffs and the SPs, the mean scores in the management and overall attitude were not significantly different, but, mean scores in the history taking, physical examination and overall skill were significantly different. Among the staffs there were no significant differences in history taking, physical examination, overall attitude, and there were significant differences in patient management and overall skill. Among the SPs there were no significant differences in physical exam, patient management and overall skill, and there were significant differences in history taking and overall attitude. The correlation coefficients between the evaluation scores and school records, between the evaluation scores and written report were relatively low respectively. CONCLUSION: To increase the agreement rates between the staffs and SPs, more training for the staffs and SPs are necessary

Brain MRI Findings in PKU Patients

PURPOSE: Abnormalities of magnetic resonance imaging(MRI) of the brain occur in some patients with phenylketonuria(PKU). The purpose of this study was to evaluate relation between MR findings, age and serum phenylalanine level. METHODS: We investigated sixteen patients with biochemically documented PKU who also underwent MRI. Typical classic form was in thirteen patients, atypical in other two patients and malignant hyperphenylalaninemia in the other two patients. We evaluated signal intensity, the distribution of abnormal signal intensity, and the extent of the brain atrophy in MRI, and possible clinical correlation between age and serum phenylalanine level and abnormal signal intensity. RESULTS: MRI scans revealed areas of abnormally increased signal intensity on T2- weighted images in 10(62%) patients, preferably involving the parieto-occipital lobes. In one advanced case, the high signal intensity of both the parietal and frontal lobes was seen on T2-weighted images, and brain atrophy and gyriform enhancement on contrast enhanced T1-weighted images. In six(38%) patients, the findings were normal. No abnormalities were found in the basal ganglia, brain stem and cerebellum. Nine patients were under age of 5 years old. There were no remarkable difference in the average serum phenylalanine levels for the various groups having different degree of MRI abnormalities(normal, mild, moderate, and severe - 26,4 mg/dL, 27.6 mg/dL, 28.2 mg/dL, and 20.8 mg/dL, respectively). CONCLUSION: Although MR findings were not specific, PKU patients showed symmetrical high signal intensity, predominantly in the peritrigonal region. In the advanced case, on T2-weighted images, high signal intensity extended to the periventricular and subcortical white matter. There was no correlation between age, serum phenylalanine level and severity of high signal intensity.

Comparison of Body Components and Mineral Mass between Women with Osteoporosis and Non-osteoporosis Postmenopausal Women

BACKGROUND: There has been a controversy on whether the association between weight and osteoporosis in postmenopausal women was the influence of body fat component or lean body mass. The purpose of this study was to examine the association between body composition and bone mineral density in postmenopausal women. METHODS: The subjects were 41 postmenopausal women older than 50 years old whose bone mineral density (BMD) and body composition were assessed using DEXA and bioelectrical impedence. Aspects of socioeconomic status, postmenopausal period, exercise, smoking and alcohol use were checked. Osteoporosis was defined as any BMD which was 2.5 SD or more below the "young normal" adult. Non-osteoporosis was defined as all BMD above 2.5 SD below the "young normal" adult. Body composition, as continuous variables or ordinal variables, was compared between the two groups. RESULTS: The prevalence of osteoporosis was 58.5% (24/51) in subjects. The women with osteoporosis were older and had lower education level compared to the women with non-osteoporosis. There were significant differences in height (P=0.009), weight (P=0.043), protein mass (P=0.004), mineral mass (P=0.004), and fat-free mass (P=0.005) between the two groups. In contrast, fat mass, % body fat, waist-hip ratio (WHR), and body mass index were not significantly different between the two groups. As the tertile of mineral mass and fat-free mass increased, the prevalence of osteoporosis showed decreased trends. However, there was no significant trend according to fat mass tertiles. When factors of age was adjusted, osteoporosis prevalence decreased 0.7 fold with 1 kg increase in fat-free mass. CONCLUSION: This study suggests that fat-free mass rather than fat mass may be associated with BMD in postmenopausal women.

A Case of Maternal Phenyletonuria / 대한주산의학회잡지

Maternal phenylketonuria(PKU) is a disorder which appears when a pregnant woman with PKU doesn't take low phenylalanine diet, phenylalanine level of the fetus rises and interferes with fetal development and can easily result in abortion, low birth weight, microcephaly, cardiac anomaly or mental retardation. To prevent these effects of untreated maternal PKU, low phenylalanine diet should be taken to maintain the serum phenylalanine level less than 10mg/dl throughout the pregnancy. We experienced a case of maternal PKU in a female baby born to a 26-year-old woman with PKU who didn't take low phenylalanine diet until eighth moth of pregnancy. She showed intrauterine growth retardation, ventricular septal defect and patent ductus arteriosus. We report a case of maternal PKU with a brief review.

The Effect of Extracellular Calcium on the Contractile Response to Field Stimulation, Bethanechol and ATP in Rabbit Urinary Bladder / 대한비뇨기과학회지

PURPOSE: In a previous study increasing the extracellular clacium concentration enhanced the phasic contractile response to low frequency stimulation(2Hz) to a significantly greater degree than the enhancement of high frequency stimulation(16Hz). To investigate the sensitivity of the detrusor contractile responses to field stimulation, bethanechol and ATP in calcium free buffer, the current study was designed. MATERIALS AND METHODS: Each rabbit bladder strip of 5x10mm in size was incubated for 30 minutes in the Tyrode's solution. Individual strips were utilized to generate the response to field stimulation(2, 8 and 32Hz), bethanechol(1.0-250microM) or ATP(0.25-2mM). Upon completion of the first stimulation in Tyrode's solution, each tissue was washed 3 1.tomes at 15 minute intervals with fresh Tyrodes. At 15 minutes following the last wash, the Tyrode's solution was replaced with solution containing no calcium+1.0mM EGTA and incubated for ditional 5, 15 or 30 minutes. At the end of 5, 15 or 30-min period of tulibration a second round of field stimulation or dose-response curves to bethanechol or ATP were generated. The contractile responses were monitored via an FT03 force transducer and recorded on a Grass 7D polygraph and expressed as the g tension per 100mg of tissue. RESULTS: (1) Progressive decrease in both basal tension and spontaneous contractile activity (2) more rapid decrease in the contractile response to 2 and 8Hz field stimulation than to 32Hz stimulation (3) more rapid decrease in the contractile response to lower concentrations of bethanechol and ATP than to high concentrations (4) greater maximal inhibition of the contractile response to low concentrations of bethanechol and ATP than to high concentrations. CONCLUSIONS: These results indicated that detrusor contractility to a sub-maximal stimulation rather than maximal stimulation is more sensitive to extracellular calcium depletion.

The Role of Cytokines In bronchoalveolar Lavage Fluid in the Pathogenesis of the Neonatal Chronic Lung Disease

PURPOSE: Chronic lung disease is a cause of significant morbidity and mortality in the neonatal respiratory distress syndrome. Although the exact mechanisms leading to the development of chronic lung disease are unknown, there is increasing evidence indicating that pulmonary inflammation contributes to the pathogenesis. The proinflammatory cytokines, interleukin(IL)-1beta, IL-8 may have a role to play in initiating the inflammatory response that is seen in chronic lung disease. In contrast, IL-10 is an antiinflammatory cytokine. The abnormal persistent inflammatory process in chronic lung disease may be due to dysregulation of these proinflammatory cytokines. So, to describe cytokine profiles of chronic lung disease in neonate, we analysed the IL-1beta, IL-8 and IL-10 levels in bronchoalveolar lavage fluid by ELISA technique. METHODS: We obtained bronchoalveolar lavage samples from 14 respiratory distress syndrome infants without chronic lung disease and 8 respiratory distress syndrome infants with chronic lungisease. The cytokine levels were assayed. RESULTS: The results were as follows: 1) IL-1beta levels were higher in chronic lung disease group(205.16+/-360.21pg/rnl) than group without chronic lung disease(21.21+/-26.14pg/ml)(P0.05). 3) In contrast, IL-10 levels were lower in chronic lung disease group(78.29+/-138.69pg/ml) than group without chronic lung disease(111.29+/-155.27pg/ml)(P>0.05). CONCLUSION: These results suggest that the dysregulation of cytokines contributes to the pathogenesis of chronic lung disease. The difference in cytokine levels of bronchoalveolar lavage fluid can be used as a predictor for development of chronic lung disease.

Analysis of Urinary Mass Screening for Elemantary, Junior and High School Children Over a 8-year Period in Seoul

PURPOSE: The urinary mass screening program for the detection of proteinuria had been performed for a school age population in the city of Seoul since 1981. However, systematic evaluation for this program had never been done. We, therefore, designed a systematic evaluation in corporation with the Seoul School Health Center for students with proteinuria identified in the mass screening to determine the prevalence of asymptomatic proteinuria, and to estimate the risk of incipient renal diseases and incidences of some of them. And also, we attempted to reveal the significance of urinary mass screening. METHODS: In the period of 8 years betwen 1987 and 1994, annually about a half million students, who comprised 3 different age groups, 5th grade of elementary school, 2nd grade of junior school and 2nd grade of high school were chosen, corresponding to the approximate ages of 11, 14 and 17 years, respectively. These subjects accounted for 25% of total school children in Seoul. The screening program was carried out in 3 steps. The 1st test was performed at schools and the 2nd at the School Health Center. Those students who showed proteinuria in the 1st and 2nd tests were referred to the hospital. Laboratory examinations including renal biopsies were performed in those students with pathologic proteinuria to clarify the incipient renal diseases. RESULTS: 1) The prevalences of asymptomatic proteinuria were 0.2-0.36% (average 0.28%) in the 1st test. It peaked at the age of 14 years 0.36%, compared to 0.2% in the 11 age group and 0.25% in the 17 age group. 2) There was a difference of asymptomatic proteinuria by sex and age, higher prevalence in the female in the 11 age group but higher in the male in the 17 age group. 3) The distribution of proteinuria in accordance with various types classified by us at the 3rd test showed as follows: transient proteinuria (type 1) 17%, orthostatic proteinuria (type 2) 55%, constant proteinuria (type 3) 6%, proteinuria with hematuria (type 4) 20%, isolated proteinuria (type 5) 2%. Pathologic proteinuria comprised of type 3, 4 and 5, accounted for 28%, which was 1/10 of proteinuria in the 1st test. 4) The annual incidence of renal glomerular diseases among the age goup of 7-18 years was estimated to be 2.8 per 10,000. 5) Renal pathologic studies on 80 children with proteinuria and hematuria (66) or constant proteinuria (14) revealed IgA Nephropathy (38.9%) was the most frequent glomerular diease. MPGN 10.0%, MGN 7.5%, Reflux Nephropathy 7.5%, FSGS 6.2% were followed, respectively. HBV asssociated Nephropathy was 7.5%. 6) 4 of Reflux Nephropathy and 2 of FSGS were found in the 14 children with constant proteinuria in the screening test. Among these children, 5 progressed to chronic renal failure. 7) The annual incidence of IgA Nephropathy among the age group of 7-18 years was 1.1 per 10,000. 8) The morbidity of chronic renal failure was estimated to be 9.8 per 1 million of 7 to 18 years age group. CONCLUSIONS: 1) Most Students, approximately 90%, who were found to have asymptomatic proteinuria in the initial screening were normal so clinical evaluations for them should be very much cautious. Only 10% of them had pathologic proteinuria which denoted incipient renal diseases. 2) Annual incidences of incipient renal glomerular diseases, IgA Nephropathy and chronic renal failure were estimated to be 2.8 per 10,000, 1.1 per 10,000 and 9.8 per 1 million among school children in Seoul. 3) Because of the high incidence of significant glomerular changes and the high rate of progression to chronic renal failure in children with constant proteinuria, it should be regarded as serious one. 4) The definite conclusion that a urinary mass screening program can alter the prognosis of children with renal diseases identified in the mass screening can not be drawn with this study. Further study must be necessary.

Nephropexy Using Percutaneous Nephrostomy (PCN) / 대한비뇨기과학회지

For the past two years, nephropexy using PCN was underwent in 9 cases of nephroptosis (8 patients) with variable degrees of flank pain. All were female and 6 on right, 1 on left and 1 on bilateral. All patients had a very mobile kidney and exact distance of movement measured on the film was greater than 6cm (6 to 15 cm). After this operation, 14-20 Fr. nephrostomy catheter was indwelled for about two weeks. All patients were followed at least 3 months(3 to 32, median 17 months). We followed the patients with symptom relief and IVP after 3 months. Nephropexy was regarded as success if she remained asymptomatic for more than 3 months. Five cases were successful and four cases felt recurrent flank pain within 1 month after the surgery. Among four cases of recurrence, one had repeated PCN and got successful result, another had open nephropexy and the others have been followed so far So overall success rate was 67% (6/9). In conclusion, nephropexy using PCN is less invasive, needs shorter period of admission and leaves ignorable scars postoperatively. Furthermore it can be repeated even in the case of failure or recurrence, which would make this new technique available as the first step for the surgical treatment of nephroptosis. And the success rate could be increased if the nephrostomy tract is dilated upto 30 Fr. and the PCN catheter is placed about 4 weeks.

Glucose-6 Phosphate Dehydrogenase Deficiency

No abstract available.

Clinical Observation on Ureteroscopy / 대한비뇨기과학회지

Rigid ureteroscopy is now an established technique for the management of ureteral stones and the diagnostic procedure of ureteral lesions. From July 1987 to August 1988, 23 patients underwent transurethral ureteroscopic procedure. The following results were obtained. 1. The success rates of ureteral stone removal were 84.6 %(11 among 13 cases) in lower ureter, 66 % (2 among 3 cases) in mid ureter and 50 % (2 among 4 cases) in upper ureter. In diagnostic procedure, the success rate was 100 % (3 among 3 cases). Overall success rate was 78.3 % (18 among 23 cases). 2. The success rates were 70 % (7 among 10 cases) of smaller than 1 cm and 80 % (8 among 10 cases) of larger than 1 cm. 3. Anesthetic methods were general(47.8 %), spinal (21.7 %) and epidural (30.8 %). 4. Average operating time was 118 minutes(from 40 minutes to 240 minutes) and mean hospitalization was 5.2 days. 5. Operative failure occurred in 4 cases : a case of false instrumental handling, a case of upward migration, a case of ureteral perforation and a case of severe ureteral kinking. 6. Complications occurred in 4 cases : a case of ureteral avulsion, a case of stone migration, a case ofureteral perforation and a case of flank pain for 2 weeks.

Partial Trisomy10(q22~q26)

No abstract available.

Partial Trisomy10(q22~q26)

No abstract available.

Clinical Observation for Low Birth Infant

No abstract available.

Two Cases of Late Infantile Metachromatic Leukodystrophy

No abstract available.

A Case of Dysplastic Kidney and Hydroureter with Distal Treterl Atresia

No abstract available.

Clinical Study of Hand, Foot, and Mouth Disease and Herpangina

No abstract available.

Clinical Observation of Convulsions in Children

No abstract available.

A Case of MCLS Associated with Pleural and Pericardial Effusion

No abstract available.

A Case of Lacunar Skull

A case of lacunar skull associated with meningomyelocele, spina bifida, kyphcsis on thoracolumbar area, hydrocephalus, bilateral club foot and paralysis of lower extremities at birth was reported. Diagnosis was made by X-ray of skull, whole spine, upper and lower extremities. On skull X-ray film, multiple small area of round rarefaction surrounded by arborizing pattern of bony ridge was visualized on both parietal area. On autopsy, outer table of the parietal bone was smooth and inner table of the parietal area was irregular and rough due to bony defect which was surrounded by bony ridges. A brief review of the literautre on lacunar skull is given.