Sung Won Park

Soonchunhyang University, Onyang, South Chungcheong, South Korea

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Publications (73)123.3 Total impact

  • Cancer Research 05/2015; 75(9 Supplement):P3-08-05-P3-08-05. DOI:10.1158/1538-7445.SABCS14-P3-08-05 · 9.28 Impact Factor
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    ABSTRACT: Schmid-type metaphyseal chondrodysplasia (MCDS) is characterized by short stature with short legs, bowing of the long bones, coxa vara, and waddling gait. MCDS is a relatively common form of MCD. Most mutations that cause MCDS occur within the carboxyl-terminal non-collagenous domain (NC1) of the COL10A1 gene. We performed mutational analysis of the COL10A1 genes in 4 unrelated Korean patients with diagnosed MCDS. Mutational analysis of COL10A1 identified c.1904_1915delinsT (p.Gln635LeufsX10) and c.1969dupG (p.Ala657GlyfsX10), 2 novel frameshift mutations, and c.2030T>A (p.Val677Glu) and c.862G>C (p.Gly288Arg) at unusual mutational sites, which could be pathogenic. We present the first report of the molecular characteristics of MCDS in 4 Korean patients. Our findings suggest that a novel sequence variation involving an unusual mutational site of the COL10A1 gene can cause mild MCDS. Copyright © 2014. Published by Elsevier Masson SAS.
    European Journal of Medical Genetics 12/2014; 58(3). DOI:10.1016/j.ejmg.2014.12.011 · 1.49 Impact Factor
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    ABSTRACT: Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders that are characterized by susceptibility to bone fractures, and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Most patients have defects in type I collagen biosynthesis with autosomal dominant inheritance; but, many autosomal recessive genes have been reported. We applied whole exome sequencing to identify mutations in a Korean OI patient who had an umbilical hernia, frequent fractures, a markedly short stature, delayed motor development, scoliosis, and dislocation of the radial head, with a bowed radius and ulna. We identified two novel variants in the BMP1 gene: c.808A>G and c.1297G>T. The former variant caused a missense change p.(Met270Val) and the latter variant caused the skipping of exon 10. The hypo-functional nature of the two variants was demonstrated in a zebrafish assay.This article is protected by copyright. All rights reserved
    Human Mutation 11/2014; 36(2). DOI:10.1002/humu.22731 · 5.05 Impact Factor
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    ABSTRACT: Purpose The reliability of the quantitative measurement of breast density with a semi-automated thresholding method (Cumulus™) has mainly been investigated with film mammograms. This study aimed to evaluate the intrarater reproducibility of percent density (PD) by Cumulus™ with digital mammograms. Methods This study included 1,496 craniocaudal digital mammograms from the unaffected breast of breast cancer patients. One rater reviewed each mammogram and estimated the PD using the Cumulus™ method. All images were reassessed by the same rater 1 month later without reference to the previously assigned values. The repeatability of the PD was evaluated by an intraclass correlation coefficient (ICC). All patients were grouped based on their body mass index (BMI), age, family history of breast cancer, breastfeeding history and breast area (calculated with Cumulus™), and subgroup analysis for the ICC of each group was performed. All patients were categorized by their Breast Imaging Reporting and Data System (BI-RADS) density pattern, and the mean and standard deviation of the PD by each BI-RADS categories were compared. Results The ICC for the PD was 0.94, indicating excellent repeatability. The discrepancy between the paired PD values ranged from 0 to 23.93, with an average of 3.90 (standard deviation=3.39). The subgroup ICCs for the PD ranged from 0.88 to 0.96, indicating excellent reliability in all subgroups regardless of patient variables. The ICCs of the PD for the high-risk (BI-RADS 3 and 4) and low-risk (BI-RADS 1 and 2) groups were 0.90 and 0.88, respectively. Conclusion This study suggests that PD calculated with digital mammograms has an acceptable reliability regardless of patient age, BMI, family history of breast cancer, breastfeeding history, breast size, and BI-RADS density pattern.
    Journal of Breast Cancer 06/2014; 17(2):174-9. DOI:10.4048/jbc.2014.17.2.174 · 1.32 Impact Factor
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    ABSTRACT: An acetabular paralabral cyst is a benign soft tissue cyst usually seen in association with a tear of the acetabular labrum. Acetabular paralabral cysts are often the cause of joint pain, but they rarely cause compression of the adjacent neurovascular structures. We present a case of a 63-year-old male patient who had paresis and atrophy of right hip adductor muscles. Right obturator neuropathy was confirmed through an electrodiagnostic study. In addition, magnetic resonance imaging showed a paralabral cyst in the right acetabulum which extended to the pelvic wall. The patient underwent conservative treatment without surgical procedure. The pain was decreased after 1 month of conservative therapy. The pain was decreased at the 1-month follow-up. Follow-up electromyography showed polyphasic motor unit potentials in adductor magnus and adductor longus muscles. Based on the experience of this case, an acetabular paralabral cyst should be considered as one of the rare causes of obturator neuropathy.
    06/2014; 38(3):427-32. DOI:10.5535/arm.2014.38.3.427
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    ABSTRACT: 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®) or idursulfase beta (Hunterase®) 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. Graphical Abstract
    Journal of Korean medical science 02/2014; 29(2):254-60. DOI:10.3346/jkms.2014.29.2.254 · 1.25 Impact Factor
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    ABSTRACT: Embryonic stem cell test is a valuable model for evaluating developmental toxicity because the in vitro developmental process mimics in vivo. This study aimed to assess the neurotoxic effects of chemicals by quantifying neural-specific proteins in vitro. Quantitation of the markers during 14-d-differentiation indicated that the mouse embryonic stem cells were completely differentiated into neural cells on day 8. Non-cytotoxic concentrations of methylmercury (MM), arsanilic acid (AA) and danofloxacin (DF) treated on the differentiating and the differentiated stage. Low exposure of MM decreased the expression of GABAA-R in the differentiating stage and of Nestin in the differentiated stage. However, GFAP, Tuj1 and MAP2 were affected only by relatively high dosages in both stages. AA affected the quantities of GABAA-R and GFAP in the differentiated stage, but the quantitative changes of Nestin and Tuj1 were greater in the differentiating stage. For those neural markers (except Nestin) expressed by both stages, DF affected at lower concentrations in the differentiated stage than the differentiating stage. Acetylcholinesterase activity was inhibited by relatively low dosages of MM and AA in the differentiating stage, while this activity was inhibited only by more than 40 µM of DF in the differentiated stage. In conclusion, non-cytotoxic concentrations of chemicals differentially induced changes in marker expression between the treated groups as functions of the exposure dosages and stages. Our results could provide useful information for the different toxicities of chemicals in the neural development.
    Journal of veterinary science (Suwŏn-si, Korea) 10/2013; 15(1). DOI:10.4142/jvs.2014.15.1.61 · 1.14 Impact Factor
  • Sung Won Park, Se Jin Park, Jae Il Shin
    The Journal of Rheumatology 09/2013; 40(9):1619. DOI:10.3899/jrheum.130426 · 3.17 Impact Factor
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    ABSTRACT: PurposeThe 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.MethodsThis 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.ResultsIn 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.ConclusionThe 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.
    09/2013; 18(3):128-34. DOI:10.6065/apem.2013.18.3.128
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    ABSTRACT: BACKGROUND: Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulates in the lysosomes of many organs and tissues contributing to the pathology associated with MPS II. The objective of this phase I/II clinical study was to evaluate the efficacy and safety of recombinant human iduronate-2-sulfatase (idursulfase beta, Hunterase(R)) in the treatment of MPS II. METHODS: Thirty-one MPS II patients between 6 and 35 years of age were enrolled in a randomized, single-blinded, active comparator-controlled phase I/II trial for 24 weeks. Patients were randomized to active comparator infusions (N=11), 0.5 mg/kg idursulfase beta infusions (N=10), or 1.0 mg/kg idursulfase beta infusions (N=10). The primary efficacy variable was the level of urinary glycosaminoglycan (GAG) excretion. The secondary variables were changes in the distance walked in 6 minutes (6-minute walk test, 6MWT), echocardiographic findings, pulmonary function tests, and joint mobility. RESULTS: Patients in all three groups exhibited reduction in urine GAG and this reduced GAG level was maintained for 24 weeks. Urine GAG was also significantly reduced in the 0.5 mg/kg and 1.0 mg/kg idursulfase beta groups when compared to the active comparator group (P = 0.043, 0.002, respectively). Changes in 6MWT were significantly greater in the 0.5 mg/kg and 1.0 mg/kg idursulfase groups than in the active comparator group (p= 0.003, 0.015, respectively). Both idursulfase beta infusions were generally safe and well tolerated, and elicited no serious adverse drug reactions. The most frequent adverse events were urticaria and skin rash, which were easily controlled with administration of antihistamines. CONCLUSIONS: This study indicates that idursulfase beta generates clinically significant reduction of urinary GAG, improvements in endurance as measured by 6MWT, and it has an acceptable safety profile for the treatment of MPS II.Trial registration: ClinicalTrials.gov: NCT01301898.
    Orphanet Journal of Rare Diseases 03/2013; 8(1):42. DOI:10.1186/1750-1172-8-42 · 3.96 Impact Factor
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    ABSTRACT: Mucopolysaccharidosis IVA (MPS IVA; OMIM #253000) is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), a lysosomal enzyme involved in the catabolism of keratan and chondroitin sulfate. In this study, we examined biochemical and genetic data from 6 Korean patients presenting with classic MPS IVA by measuring GALNS activity in peripheral blood leukocytes and skin fibroblasts. We initially identified Korean patients with MPS IVA by clinical, biochemical, and genetic analyses. We performed PCR-direct sequencing to identify molecular defects of the GALNS gene in patients and assessed the mutational statuses of family members as well as 50 healthy unrelated subjects. In silico analyses were performed to check for novel mutations. The mean age of the six female patients was 8.0 ± 5.2 years (range: 2-17 years), and were all found to have severe reductions of GALNS enzyme. A total of 12 mutant alleles were identified, corresponding to 7 different mutations. Five novel mutations were c.218A>G (p.Y73C), c.451C>A (p.P151T), c.725C>G (p.S242C), c.752G>A (p.R251Q), and c.1000C>T (p.Q334X). Two other mutations were c.1156C>T (p.R386C) and c.1243-1G>A. Two mutations, c.451C>A and c.1000C>T, accounted for 58% of all mutations in this sample. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 03/2013; 161(3):509-17. DOI:10.1002/ajmg.a.35298 · 2.05 Impact Factor
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    ABSTRACT: OBJECTIVE: Metabolic syndrome is a risk factor for age-related hearing impairment (ARHI). There are metabolic differences between abdominal adipose tissue present in subcutaneous and visceral areas. In this study, we investigated the association between abdominal fat composition, measured by computerized tomography (CT), and hearing thresholds. PATIENTS AND METHODS: We recruited 662 adults aged 40-82 years with normal or symmetrical sensorineural hearing loss who underwent fat measurement CT. Linear regression models were used to address the association between risk factors, including abdominal fat composition, and average hearing levels at low and high frequencies. RESULTS: After adjusting for age, systemic disease, and other variables, a positive association between visceral adipose tissue (VAT) area and average hearing threshold was observed in women. In men, there was no significant association between abdominal fat composition and hearing threshold. CONCLUSION: Our findings show an association between VAT and hearing impairment in women. A reduction in visceral adiposity may help to prevent hearing loss in women. © 2013 Blackwell Publishing Ltd.
    Clinical Endocrinology 02/2013; 80(3). DOI:10.1111/cen.12184 · 3.35 Impact Factor
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    ABSTRACT: A clone (NVRQS-DON) to DON was prepared in this experiment. Using the NVRQS-DON, Ag or Ab-coated enzyme linked immunosorbent assay (ELISA) was prepared by coating the DON-BSA and DON mAb. Quantitative calculations for DON from DON ELISA ranged from 50 to 4,000 ng/mL and from 25 to 500 ng/mL (r2 > 0.99), respectively. The IC50s of DON, HT-2, 15-acetyl-DON, and nivalenol were 23.44, 22,545, 5,518, and 5,976 ng/mL, respectively, based on the DON-Ab ELISA. The cross-reactivity of the mAb to HT-2, 15-acetyl-DON, and nivalenol was 0.1, 0.42, and 0.40%, respectively. The intra- and interassay precision coefficient variations (CV) were both < 10%. The mAb-coated ELISA was validated by spiking DON (0 to 1,000 μg/kg in feed). Recoveries ranged from 68.34 to 95.49%, with the CVs ranging from 4.10 to 13.38%. A buffer solution of 250, 500 and 1,000 ng/mL DON was separated using 300 mg of NVRQS-DON and 3 mg of magnetic nanoparticles (MNPs). NVRQS-DON was coupled to the MNP in an antibody concentration-dependent manner. The recoveries of DON by this mAb-MNP system were 75.2, 96.9, and 88.1%. In conclusion, we developed competitive ELISAs for the detection of DON in animal feed and a new extraction tool for DON using mAb-coupled MNPs.
    Journal of veterinary science (Suwŏn-si, Korea) 02/2013; 14(2). DOI:10.4142/jvs.2013.14.2.143 · 1.14 Impact Factor
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    ABSTRACT: Precocious puberty is defined as breast development before the age of 8 years in girls. The present study aimed to reveal the diagnosis of Korean girls referred for precocious puberty and to compare the constitutional and endocrinological features among diagnosis groups. The present study used a retrospective chart review of 988 Korean girls who had visited a pediatric endocrinology clinic from 2006 to 2010 for the evaluation of precocious puberty. Study groups comprised fast puberty, true precocious puberty (PP), pseudo PP, premature thelarche, and control. We determined the height standard deviation score (HSDS), weight standard deviation score (WSDS), and body mass index standard deviation score (BMISDS) of each group using the published 2007 Korean growth charts. Hormone tests were performed at our outpatient clinic. The PP groups comprised fast puberty (67%), premature thelarche (17%), true PP (15%), and pseudo PP (1%). Advanced bone age and levels of estradiol, basal luteinizing hormone (LH), and peak LH after gonadotropin-releasing hormone stimulation testing were significantly high in the fast puberty and true PP groups compared with the control group. HSDS, WSDS, and BMISDS were significantly higher in the true PP group than in the control group (P<0.05). The frequent causes of PP were found to be fast puberty, true PP, and premature thelarche. Furthermore, BMISDS were significantly elevated in the true PP group. Therefore, we emphasize the need for regular follow-up of girls who are heavier or taller than others in the same age group.
    Korean Journal of Pediatrics 12/2012; 55(12):481-6. DOI:10.3345/kjp.2012.55.12.481
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    ABSTRACT: Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in girls with precocious puberty (PP) or early puberty (EP). This study aimed to determine the frequency of putative genetic markers in girls with PP or EP. Genomic DNAs were obtained from 77 and 109 girls that fulfilled the criteria for PP and EP, respectively. The controls in this study were 144 healthy volunteers between 20 and 30 years of age. The haplotypes were reconstructed using 11 SNPs of LIN28B, and haplotype association analysis was performed. The haplotype frequencies were compared. Differences in the clinical and laboratory parameters were analyzed according to the haplotype dosage. Eleven SNPs in LIN28B were all located in a block that was in linkage disequilibrium. The haplotype could be reconstructed using 2 representative SNPs, rs4946651 and rs369065. The AC haplotype was less frequently observed in the PP group than in the controls (0.069 vs. 0.144, P=0.010). The trend that girls with non-AC haplotypes tended to have earlier puberty onset (P=0.037) was illustrated even in the EP+PP patient group by Kaplan-Meier analysis. The results of the present study showed that non-AC haplotypes of LIN28B had a significant association with PP in girls.
    Korean Journal of Pediatrics 10/2012; 55(10):388-92. DOI:10.3345/kjp.2012.55.10.388
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    ABSTRACT: Mucopolysaccharidosis (MPS) II is an X-linked metabolic disorder caused by dysfunction of iduronate-2-sulfatase (I2S). This abnormality causes the progressive accumulation of incompletely degraded glycosaminoglycans (GAGs) in the lysosomes. The auditory characteristics of MPS II in mouse models have not been reported. In this study, we evaluated the auditory characteristics of the MPS II in IDS knock-out (IDS-KO) mice. In addition, the effect of enzyme replacement therapy (ERT) on hearing was studied. The IDS-KO mice had normal histology of the cochlea and retained good hearing at 7 weeks of age. However, at 17 weeks of age, the hearing thresholds of the IDS-KO mice were elevated and exudates were found in the middle ear. The hearing thresholds of the enzyme-treated IDS-KO (IDS-ERT) mice were similar to the wild-type (WT) mice at 17 weeks. Moreover, the microstructure of the inner ear was similar to the IDS-KO by transmission electron microscopy. The histology findings indicated that the microstructure of the inner ear was similar in comparisons between IDS-KO and IDS-ERT mice, even after 10 weeks of treatment. However, the hearing deficits in the MPS II mouse model can be prevented if ERT is started before the onset of hearing impairment.
    American Journal of Medical Genetics Part A 09/2012; 158A(9):2131-8. DOI:10.1002/ajmg.a.35498 · 2.05 Impact Factor
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    ABSTRACT: Continuous renal replacement therapy (CRRT) is becoming the treatment of choice for supporting critically ill pediatric patients. However, a few studies present have reported CRRT use and outcome in neonates weighing less than 3 kg. The aim of this study is to describe the clinical application, outcome, and complications of CRRT in small neonates. A retrospective review was performed in 8 neonatal patients who underwent at least 24 hours of pumped venovenous CRRT at the Samsung Medical Center in Seoul, Korea, between March 2007 and July 2010. Data, including demographic characteristics, diagnosis, vital signs, medications, laboratory, and CRRT parameters were recorded. The data of 8 patients were analyzed. At the initiation of CRRT, the median age was 5 days (corrected age, 38(+2) weeks to 23 days), and the median body weight was 2.73 kg (range, 2.60 to 2.98 kg). Sixty-two patient-days of therapy were reviewed; the median time for CRRT in each patient was 7.8 days (range, 1 to 37 days). Adverse events included electrolyte disturbances, catheter-related complications, and CRRT-related hypotension. The mean circuit functional survival was 13.9±8.6 hours. Overall, 4 patients (50%) survived; the other 4 patients, who developed multiorgan dysfunction syndrome, died. The complications of CRRT in newborns are relatively high. However, the results of this study suggest that venovenous CRRT is feasible and effective in neonates weighing less than 3 kg under elaborate supportive care. Furthermore, for using potential benefit of CRRT in neonates, efforts are required for prolonging filter survival.
    Korean Journal of Pediatrics 08/2012; 55(8):286-92. DOI:10.3345/kjp.2012.55.8.286
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    ABSTRACT: Patients with Xp deletions have short stature and may have some somatic traits typical of Turner syndrome (TS), whereas gonadal function is generally preserved. In most studies of these patients, microsatellites have been used to determine the break point of the Xp deletion. In the present study, we describe the clinical, cytogenetic, and chromosomal microarray (CMA) analysis of a family with an Xp22.33-Xp22.12 deletion. Two female siblings, aged 8 years 9 months and 11 years 10 months, presented with short stature. The older sibling's height (index case) was 137.9 cm (-1.81 SDS) and the younger sibling's height was 118.6 cm (-2.13 SDS). The mother and both daughters had only a short stature; a skeletal survey showed normal findings except for mildly shortened 4th and 5th metacarpal bones. No features of TS were present. The deletion appeared terminal with a breakpoint within Xp22.2 located about 19.9 Mb from the Xp telomere. The deletion contained 102 protein-coding genes. A probe of the end breakage point was located at the 19,908,986th base of the X chromosome, and a probe of the marginal normal region near the breakage point was located at the 19,910,848th base of the X chromosome. Therefore, the breakage point was concluded to be located between these two probes. In summary, we report a familial case of an Xp deletion. The findings of our study may be helpful in further analyzing the phenotypes associated with Xp deletions.
    American Journal of Medical Genetics Part A 06/2012; 158A(6):1462-6. DOI:10.1002/ajmg.a.35357 · 2.05 Impact Factor
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    ABSTRACT: Rabson-Mendenhall syndrome (RMS) is a rare syndrome manifested by extreme insulin resistance with hyperinsulinemia, acanthosis nigricans, tooth dysplasia and growth retardation. Our patient was first noted at the age of 8 months due to pigmentations on skin-folded areas. Initial laboratory tests showed normal fasting glucose (69 mg/dL). Fasting insulin level was severely elevated, up to 554.6 µIU/mL, and c-peptide level was increased, up to 13.81 ng/mL. However, hemoglobin A1c was within normal range (4.8%). He is now 11 yr old. His growth development followed the 5-10th percentile and oral hypoglycemic agents are being administered. The last laboratory results showed insulin 364.1 µIU/mL, C-peptide 4.30 ng/mL, and hemoglobin A1c 7.6%. The boy was a compound heterozygote for the c.90C > A and c.712G > A mutations of the insulin receptor gene, INSR, which are nonsense and missense mutations. In summary, we report the first Korean case of RMS, which was confirmed by two novel mutations of the INSR.
    Journal of Korean medical science 05/2012; 27(5):565-8. DOI:10.3346/jkms.2012.27.5.565 · 1.25 Impact Factor
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    ABSTRACT: Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome, OMIM #253200) is a rare disorder involving multiple organs and manifested particularly by severe skeletal abnormalities. Bone marrow transplantation (BMT) improves cardiopulmonary function and facial features, but has limited success in ameliorating skeletal abnormalities and short stature. Here, we report the outcome of enzyme replacement therapy (ERT) with recombinant human arylsulfatase-B (ASB, Naglazyme, BioMarin, Novato, CA) in an MPS VI patient who received BMT 10 years prior to ERT induction. Administration of weekly Naglazyme for 18 months was effective in improving range of motion in several joints [shoulders (improvement of flexion (Right/Left): 40°/55°; improvement of extension 30°/40°; improvement of abduction 10°/10°), elbows (improvement of flexion 25°/25°; improvement of extension 10°/15°), hips (improvement of flexion 25°/10°), and knees (improvement of flexion 45°/40°; improvement of extension 50°/60°)]. Improvement in the outcome of the 12-min walk test (70% increase) and 3-min stair-climbing test (29% increase) was also noted after ERT. Because ERT improved clinical features in an MPS VI patient who had undergone prior BMT, the role of ERT post successful BMT in MPS VI needs further investigation.
    American Journal of Medical Genetics Part A 05/2012; 158A(5):1158-63. DOI:10.1002/ajmg.a.35263 · 2.05 Impact Factor

Publication Stats

593 Citations
123.30 Total Impact Points

Institutions

  • 2014
    • Soonchunhyang University
      Onyang, South Chungcheong, South Korea
  • 2013–2014
    • Catholic Kwandong University
      • College of Medicine
      Gangneung, Gangwon-do, South Korea
    • Animal Plant And Fisheries Quarantine And Inspection Agency
      Anyō, Gyeonggi-do, South Korea
    • Cheil General Hospital
      Sŏul, Seoul, South Korea
  • 2009–2014
    • Sungkyunkwan University
      • Department of Pediatrics
      Sŏul, Seoul, South Korea
    • University of Toronto
      Toronto, Ontario, Canada
  • 2003–2014
    • Ulsan University Hospital
      Urusan, Ulsan, South Korea
  • 2011–2013
    • University of Ulsan
      Urusan, Ulsan, South Korea
    • Chonnam National University
      • College of Veterinary Medicine
      Gwangju, Gwangju, South Korea
  • 2006–2011
    • Carnegie Mellon University
      • Department of Electrical and Computer Engineering
      Pittsburgh, Pennsylvania, United States
    • Eulji University
      • Department of Internal Medicine
      Seoul, Seoul, South Korea
  • 2007
    • Pukyong National University
      Tsau-liang-hai, Busan, South Korea
    • Hyundai Heavy Industries
      Urusan, Ulsan, South Korea
  • 2001
    • Seoul National University
      Sŏul, Seoul, South Korea
  • 1994
    • Korea University
      • Department of Electrical Engineering
      Seoul, Seoul, South Korea