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Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita

Choi HS, Kwon A, Chae HW, Suh J, Song KC, Lee JS, Kim HS

X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or...
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Ten-Year Trends of Metabolic Syndrome Prevalence and Nutrient Intake among Korean Children and Adolescents: A Population-Based Study

Park SI, Suh J, Lee HS, Song K, Choi Y, Oh JS, Choi HS, Kwon A, Kim HS, Kim JH, Chae HW

Purpose: Metabolic syndrome (MetS) comprises a cluster of risk factors for future cardiovascular and metabolic diseases. Only a few recent studies have reported the trend in the prevalence of MetS...
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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation

Lee HI, Kwon A, Suh JH, Choi HS, Song KC, Chae HW, Kim HS

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by...
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Targeted Next-Generation Sequencing of Plasma CellFree DNA in Korean Patients with Hepatocellular Carcinoma

Chae H, Sung PS, Choi H, Kwon A, Kang D, Kim Y, Kim M, Yoon SK

Background: Hepatocellular carcinoma (HCC) is the second-most-common cause of cancer-related deaths worldwide, and an accurate and non-invasive biomarker for the early detection and monitoring of HCC is required. We assessed...
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A case of primary hyperparathyroidism due to an intrathymic ectopic parathyroid adenoma in a 15-year-old boy

Seo Y, Song K, Choi HS, Suh J, Kwon A, Chae HW, Kim HS

Hypercalcemia due to primary hyperparathyroidism (PHPT) is uncommon in children. PHPT is typically caused by a single parathyroid adenoma. Ectopic parathyroid adenomas account for 6%–16% of all parathyroid adenomas and...
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Validation of Temperature Preservation in Specimen Transportation Systems

Lee SG, Kwon A, Park S, Seo S, Kim YJ, Shim H, Ham C, Kim JS

Background Clinical specimens are valuable materials that require a traceable management system. Maintenance of temperature and loss prevention during transport are important for the reliability of the clinical test results. Current...
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Effect of agricultural pesticide on precocious puberty in urban children: an exploratory study

Suh J, Choi HS, Kwon A, Chae HW, Kim HS

Background: The incidence of precocious puberty has increased throughout the 20th century. The association between precocious puberty and endocrine disrupting chemicals including agricultural pesticides has been a subject of global...
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Characteristics of DNMT3A mutations in acute myeloid leukemia

Park DJ, Kwon A, Cho BS, Kim HJ, Hwang KA, Kim M, Kim Y

BACKGROUND: DNMT3A mutations occur in approximately 20% of AML cases and are associated with changes in DNA methylation. CDKN2B plays an important role in the regulation of hematopoietic progenitor cells...
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Incidence and Prevalence of Type 1 Diabetes Mellitus among Korean Children and Adolescents between 2007 and 2017: An Epidemiologic Study Based on a National Database

Chae HW, Seo GH, Song K, Choi HS, Suh J, Kwon A, Ha S, Kim HS

Background: The incidence of type 1 diabetes mellitus (T1DM) among children is high in Europe and the USA and relatively low in Asia, including Korea. The present study aimed to...
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Cushing syndrome with acute kidney injury due to ureteral stones in a 6-year-old boy

Song K, Kwon A, Suh J, Choi HS, Chae HW, Kim HS

Cushing syndrome (CS) is rare in children. The clinical presentation of CS varies according to extent and duration of glucocorticoid excess, and urolithiasis is a common complication. We report the...
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Right Ventricular Analysis Using Real-time Three-dimensional Echocardiography for Preload Dependency

Kwon A, Ahn HS, Kim GH, Cho JS, Park CS, Youn HJ

BACKGROUND: The importance of the right ventricle (RV) has been increasingly recognized, and accurate RV measurement has become necessary. However, assessment of the RV with two-dimensional (2D) echocardiography has several...
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Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH, Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JH

BACKGROUND: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we...
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A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1

Suh J, Choi HS, Kwon A, Chae HW, Lee JS, Kim HS

Autoimmune polyendocrine syndrome type 1 (APS-1), or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare, autosomal recessive autoimmune disease caused by a mutation of the autoimmune regulator (AIRE) gene. The main symptom...
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Neurophysiological and Psychological Predictors of Social Functioning in Patients with Schizophrenia and Bipolar Disorder

Kim Y, Kwon A, Min D, Kim S, Jin MJ, Lee SH

OBJECTIVE: The aim of this study is to examine social functioning in patients with schizophrenia and bipolar disorder and explore the psychological and neurophysiological predictors of social functioning. METHODS: Twenty-seven patients...
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Beta-Catenin Downregulation Contributes to Epidermal Growth Factor-induced Migration and Invasion of MDAMB231 Cells

Kwon A, Park HJ, Baek JH

We previously demonstrated that epidermal growth factor (EGF) enhances cell migration and invasion of breast cancer cells in a SMAD ubiquitination regulatory factor 1 (SMURF1)-dependent manner and that SMURF1 induces...
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Respiratory failure in a diabetic ketoacidosis patient with severe hypophosphatemia

Choi HS, Kwon A, Chae HW, Suh J, Kim DH, Kim HS

Phosphate is essential in regulating human metabolic processes, and severe hypophosphatemia can induce neurologic and hematological complications and result in respiratory failure and cardiac dysfunction. Therefore, correction of severe hypophosphatemia...
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Effect of the Orally Active Growth Hormone Secretagogue MK-677 on Somatic Growth in Rats

Lee J, Kwon A, Chae HW, Lee WJ, Kim TH, Kim HS

PURPOSE: Growth hormone secretagogues (GHSs) possess the ability to release growth hormone (GH) in the body. This study aimed to investigate the effects of MK-677, an orally active GHS, on...
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Insulin resistance and bone age advancement in girls with central precocious puberty

Hur JH, Park S, Jung MK, Kang SJ, Kwon A, Chae HW, Kim HS, Kim DH

PURPOSE: Precocious puberty has significantly increased recently. While obesity is associated with puberty timing, the relationship between obesity and central precocious puberty (CPP) remains controversial. The purpose of this study...
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Clinical manifestations of Rathke’s cleft cysts and their natural progression during 2 years in children and adolescents

Jung JE, Jin J, Jung MK, Kwon A, Chae HW, Kim DH, Kim HS

PURPOSE: Rathke’s cleft cyst (RCC) is an asymptomatic benign lesion. With increased interest in pediatric endocrinology, the prevalence of RCCs in children is also increasing. However, the clinical relevance and...
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Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome

Jung JE, Hur JH, Jung MK, Kwon A, Chae HW, Kim DH, Kim HS

Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple...
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