Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)

Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme replacement therapy (ERT) with idursulfase (Elaprase(R)) or idursulfase beta (Hunterase(R)) have been developed for these patients. The effect of ERT on the growth of Korean patients with Hunter syndrome was evaluated at a single center. This study comprised 32 patients, who had received ERT for at least 2 yr; they were divided into three groups according to their ages at the start of ERT: group 1 (<6 yr, n=14), group 2 (6-10 yr, n=11), and group 3 (10-20 yr, n=7). The patients showed marked growth retardation as they got older. ERT may have less effect on the growth of patients with the severe form of Hunter syndrome. The height z-scores in groups 2 and 3 revealed a significant change (the estimated slopes before and after the treatment were -0.047 and -0.007, respectively: difference in the slope, 0.04; P<0.001). Growth in response to ERT could be an important treatment outcome or an endpoint for future studies.

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center

PURPOSE: The purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype. METHODS: This was a retrospective study of the patients with congenital adrenal hyperplasia in the pediatric outpatient clinic at the Samsung Medical Center from November 1994 to December 2012. We analyzed the medical records of 27 patients (male, 19; female, 8) with congenital adrenal hyperplasia who had been diagnosed by genetic testing to have 21-hydroxylase deficiency. RESULTS: In genetic analysis of 54 alleles from 27 patients, 13 types of mutations were identified. The distribution of 21-hydroxylase deficiency gene mutations revealed that intron 2 splice site (c.293-13A/C>G) mutations and large deletions were the most common, at 31.5% and 22.2% respectively, followed by p.I173N, p.R356W, and p.I172N mutations at 11.1%, 9.3%, and 9.3%, respectively. Other mutations were observed at 1.9-3.7%. No novel mutations were detected. CONCLUSION: The analysis of 54 alleles revealed 13 types of mutation. The salt wasting form showed a good correlation between genotype and phenotype, but the simple virilizing and nonclassic forms showed inconsistencies between genotype and phenotype. The distribution of CYP21A2 mutations was evaluated for 21-hydroxylase deficiency patients from a single center. This study provides limited data on mutation spectrum and genotype-phenotype correlation of 21-hydroxylase deficiency in Korea.

Pleural Effusion and Diaphragmatic Palsy Associated with Peripherally Inserted Central Venous Catheter in a Preterm Infant / 대한주산의학회잡지

Pleural effusion and diaphragmatic palsy secondary to fluid extravasation after central line insertion in the neonate are rare complications. Here we report a case of right pleural effusion and diaphragmatic palsy caused by fluid extravasation associated with peripherally inserted central venous catheter in the preterm infant.

Clinical Characteristics of Bacteremia in Children with Cancer / 소아감염

PURPOSE: Bacteremia is one of the most common causes of morbidity and mortality in children with cancer. The aim of this study was to evaluate the clinical features of bacteremia in pediatric cancer patients. METHODS: We retrospectively analyzed bacteremia episodes occurred in pediatric cancer patients at Samsung Medical Center from January 2008 to December 2010. We excluded bacteremia episodes after hematopoietic stem cell transplantation. RESULTS: A total of 141 blood cultures were positive in 121 patients. Thirteen cultures due to contamination were excluded. For analysis, 128 bacteremia episodes in 108 children were included. Gram-positive organisms accounted for 46.9% (60/128) and gram-negative organisms for 53.1% (68/128). The source of bacteremia was identified in 21.1% of episodes. Bacteremia due to catheter related infection was observed in 9.4% of episodes (12/128 episodes) and gram-positive organisms were isolated in 75% of episodes (9/12). There were 10 cases (7.8%) of bacteremia associated with septic shock and gram-negative organisms were isolated in 80% of episodes (8/10). Relapses were documented within 30 days in 2 patients who cleared bacteremia which was confirmed after negative blood cultures. Mortality associated with bacteremia was not observed. CONCLUSION: Continuous monitoring is needed to maintain the tailored strategies to manage pediatric cancer patients with neutropenic fever who are at high risk of developing bacteremia in each institution.

Comparison between Mammography, Ultrasonography and 99 mTc-MIBI Scintimammography in the Diagnosis of Breast Cancer

PURPOSE: To compare the feasibility of 9 9 mTc-MIBI scintimammography as a tumor localizing agent in breast lesions in comparison with that of mammography and ultrasonography, and to evaluate the efficacy of these three modalities. MATERIALS AND METHODS: Sixty-four breast lesions were classified as benign or malignant on the basis of sono-graphic and mammographic criteria and were further analyzed by means of 99mTc-MIBI scintimammography. The classifications thus obtained were compared with the biopsy findings, and in order to compare the three techniques, the sensitivity, specificity, accuracy, and negative and positive predictive values were calculated for each individual modality. RESULTS: Of 64 histologically proven lesions, 33 were malignant and 31 were benign. Sensitivities and specificities for malignancy were 86.2% and 64.5% for mammography, 87.9% and 76.7 % for sonography, and 78.8% and 74.2% for 99mTc-MIBI scintimammography. CONCLUSION: Mammography and ultrasonogrphy are reliable diagnostic modalities for the detection of breast cancer. 99mTc-MIBI scintimammography has a higher specificity than mammography and it may help to reduce unnecessary biopsies.

Peripelvic and Perirenal Lymphangiectasia and Bilateral Renal Vein Thrombosis: A Case Report

We report the computed tomography (CT) and magnetic resonance imaging (MRI) findings in a patient with peripelvic and perirenal lymphangiectasia associated with bilateral renal vein thrombosis. CT scanning revealed multiple hypodense masses in the bilateral peripelvic and perirenal space, and on MR images, these masses had a multiple cystic appearance, with low signal intensity on T1-weighted and high signal intensity on T2-weighted images. CT, MR, and renal angiography failed to visualize bilateral renal veins, though serpigi-nous collateral veins were seen in the perirenal spaces.

The Carotid Artery Intima-Media Thickness Measured with B-Mode Ultrasonography in Adult Volunteers

OBJECTIVES: The purposes of this study were 1) to correlate the carotid intima-medial thickness (IMT) with risk factors of atherosclerosis, 2) to demonstrate the standarized methods of B-mode ultrasound (US) scanning of carotid artery and IMT measurement. MATERIALS AND METHODS: Bilateral carotid arteries of 95 adult volunteers were scanned using 12 MHz linear probe. The mean of bilateral IMT was regarded as the volunteer's IMT, which was measured on the far wall of distal common carotid artery. The normality test for measured IMT and correlation tests between IMT and various known risk factors of atherosclerosis including age, end-systolic blood pressure, end-diastolic blood pressure, fasting blood glucose level, body mass index, life-style data and lipid profiles were performed. Inter-observer and intra-observer variability were evaluated through correlation tests on 20 randomly sampled data. RESULTS: The measured IMT showed normal distribution (mean=0.673 mm, SD=+/-0.1, p=0.494) and the 95th percentile was 0.830 mm. The systolic blood pressure (r=0.101) and body mass index (r=0.200) showed positive correlation but they did not show statistically significant relationships with IMT (p>0.05). The age showed statistically significant correlation (r=0.585, p<0.001), but the other risk factors did not show statistically significant correlation with IMT. The correlation coefficients of inter-observer and intra-observer variability on IMT measurement were 0.8770 and 0.9213, respectively. CONCLUSION: The diagnostic criteria for early carotid atherosclerosis using B-mode US could be estimated from our data. Our measurement protocols showed high reproducibility. The associations between most risk factors that did not show statistically significant correlation in our study and IMT should be confirmed in a population-based study.