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Enamel Renal Syndrome: A Case Report of Amelogenesis Imperfecta Associated with Nephrocalcinosis

Choi S, Sohn YB, Ji S, Song S, Shin J, Kim S

Amelogenesis imperfecta (AI) occurs either in isolation or in association with other dental abnormalities and systemic disorder. A rare syndrome associating AI with nephrocalcinosis was named as Enamel Renal Syndrome...
Analysis of the Influencing Factors of 17-Hydroxyprogesterone Level and the Correlation between 17-Hydroxyprogesterone Level and the Clinical Parameters Related to Adrenal Cortical Function in Very-Low-Birth-Weight Infants

Kum CD, Lee MJ, Park MS, Sohn YB, Noh K, Lee JH

PURPOSE: 17-Hydroxyprogesterone (17-OHP) screening results are difficult to interpret owing to the many influencing factors, and confirming the test results takes time. In this study, we examined the factors that...
Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11

Yoon JS, Park KJ, Sohn YB, Lee HS, Hwang JS

Permanent neonatal diabetes mellitus is most commonly caused by mutations in the ATP-sensitive potassium channel (KATP) subunits. Prompt initiation of sulfonylurea treatment can improve glycemic control in children with KCNJ11...
External validation of IBTR! 2.0 nomogram for prediction of ipsilateral breast tumor recurrence

Lee BM, Chang JS, Cho YU, Park S, Park HS, Kim JY, Sohn JH, Kim GM, Koo JS, Keum KC, Suh CO, Kim YB

PURPOSE: IBTR! 2.0 nomogram is web-based nomogram that predicts ipsilateral breast tumor recurrence (IBTR). We aimed to validate the IBTR! 2.0 using an external data set. MATERIALS AND METHODS: The cohort...
Prevalence and risk factors for reduced pulmonary function in diabetic patients: The Korea National Health and Nutrition Examination Survey

Kim HY, Sohn TS, Seok H, Yeo CD, Kim YS, Song JY, Lee YB, Lee DH, Lee JI, Lee TK, Jeong SC, Hong M, Chae HS

BACKGROUND/AIMS: An association between reduced pulmonary function and diabetes has been observed. Our aim was to evaluate the prevalence and risk factors associated with reduced pulmonary function in diabetic patients. METHODS:...
Disability of Hearing Impairment Is Positively Associated With Urine Albumin/Creatinine Ratio in Korean Adults: The 2011–2012 Korea National Health and Nutrition Examination Survey

Kim YS, Lee DH, Chae HS, Lee TK, Sohn TS, Jeong SC, Kim HY, Lee JI, Song JY, Yeo CD, Lee YB, Ahn HS, Hong M, Han K

OBJECTIVES: The aim of this study was to determine whether chronic kidney disease (CKD) is associated with hearing thresholds in the nationwide, large-scaled Korean population. METHODS: This study analyzed the data...
Prevalence and risk factors of periodontitis among adults with or without diabetes mellitus

Hong M, Kim HY, Seok H, Yeo CD, Kim YS, Song JY, Lee YB, Lee DH, Lee JI, Lee TK, Ahn HS, Ko YH, Jeong SC, Chae HS, Sohn TS

BACKGROUND/AIMS: This study examined prevalence and risk factors of periodontitis in representative samples of Korean adults, with and without diabetes mellitus (DM). METHODS: Data from the 2012 Korean National Health and...
Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization

Lee NR, Yoon NY, Jung M, Kim JY, Seo SJ, Wang HY, Lee H, Sohn YB, Choi EH

X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties...
Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea

Jo HC, Yoon JS, Jang JY, Sohn YB, Lee JH, Cheong HI, Park MS

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease, which is characterized by electrolyte absorption defect due to impaired function of the Cl-/HCO3 - exchanger in the ileum and the...
Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures

Sohn YB, Yoo HW

Gaucher disease type 1 (GD1) is an inherited lysosomal storage disorder caused by deficiency of acid β-glucosidase. The diminished enzyme activity leads to the accumulation of substrates and results in...
Glomerular filtration rate affects interpretation of pulmonary function test in a Korean general population: results from the Korea National Health and Nutrition Examination Survey 2010 to 2012

Kim YS, Kim HY, Ahn HS, Sohn TS, Song JY, Lee YB, Lee DH, Lee JI, Lee TK, Jeong SC, Hong M, Chae HS, Han K, Yeo CD

BACKGROUND/AIMS: The pulmonary abnormalities (principally restrictive abnormalities) are characteristic of renal transplant recipients or those with end-stage renal disease. Our aim was to explore whether the prevalence of spirometric abnormalities...
Erratum: A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin(R) in Patients with Type 1 Gaucher Disease

Choi JH, Lee BH, Ko JM, Sohn YB, Lee JS, Kim GH, Heo SH, Park JY, Kim YM, Kim JH, Yoo HW

We would like to correct the phrases.
Disease-specific Growth Charts of Marfan Syndrome Patients in Korea

Kwun Y, Kim SJ, Lee J, Isojima T, Choi DS, Kim DK, Huh J, Kang IS, Chang M, Cho SY, Sohn YB, Park SW, Jin DK

Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. These primary skeletal manifestations affect the growth pattern in MFS. Therefore,...
Septic Knee Arthritis Caused by Staphylococcus lugdunensis After Intraarticular Injection Therapy

Song CH, Sohn KM, Joo YB, Kim MS, Cheon S, Kim YS, Koo SH

Staphylococcus lugdunensis is a coagulase-negative staphylococcus. However, it causes various clinically important human infections and behaves similar to Staphylococcus aureus. S. lugdunensis reportedly causes infective endocarditis, skin and soft tissue...
A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin(R) in Patients with Type 1 Gaucher Disease

Choi JH, Lee BH, Ko JM, Sohn YB, Lee JS, Kim GH, Heo SH, Park JY, Kim YM, Kim JH, Yoo HW

Gaucher disease is a lysosomal storage disease for which enzyme replacement therapy has proven to be effective. A switch-over clinical trial was performed to evaluate the efficacy and safety of...
The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses

Sohn YB, Yim SY, Cho EH, Kim OH

Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including...
A Case Report of Preoperative and Postoperative 7.0T Brain MRI in a Patient with a Small Cell Glioblastoma

Paek SH, Hwang JH, Kim DG, Choi SH, Sohn CH, Park SH, Son YD, Kim YB, Cho ZH

A 45-yr-old female patient was admitted with one-month history of headache and progressive left hemiparesis. Brain magnetic resonance imaging (MRI) demonstrated a mass lesion in her right frontal lobe. Her...
A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation

Park S, Sohn YB, Chung IS, Hong JH, Jung EJ, Jeong SY, Jin HS

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by neurological, cutaneous, and ophthalmological manifestations. A 33-year-old woman with typical symptoms of NF1 visited Ajou University Hospital. Screening of...
Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)

Cho SY, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Kim SJ, Sohn YB, Park SW, Kwon EK, Han SJ, Jung J, Jin DK

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...
Long-Term Outcomes of Complete Versus Incomplete Revascularization for Patients with Multivessel Coronary Artery Disease and Left Ventricular Systolic Dysfunction in Drug-Eluting Stent Era

Sohn GH, Yang JH, Choi SH, Song YB, Hahn JY, Choi JH, Gwon HC, Lee SH

We aimed to investigate that complete revascularization (CR) would be associated with a decreased mortality in patients with multivessel disease (MVD) and reduced left ventricular ejection fraction (LVEF). We enrolled...

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