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105 results

Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea

Hong KH, Lee SW, Kim TS, Huh HJ, Lee J, Kim SY, Park JS, Kim GJ, Sung H, Roh KH, Kim JS, Kim HS, Lee ST, Seong MW, Ryoo N, Lee H, Kwon KC, Yoo CK

  • Ann Lab Med.
  • 2020 Sep;40(5):351-360.
  • doi: 10.3343/alm.2020.40.5.351
The outbreak of coronavirus disease 2019 (COVID-19), which began in December 2019, is still ongoing in Korea, with >9,000 confirmed cases as of March 25, 2020. COVID-19 is a severe...
Unmet Psychosocial Needs of Patients with Newly Diagnosed Ulcerative Colitis: Results from the Nationwide Prospective Cohort Study in Korea

Moon JR, Lee CK, Hong SN, Im JP, Ye BD, Cha JM, Jung SA, Lee KM, Park DI, Jeen YT, Park YS, Cheon JH, Kim H, Seo B, Kim Y, Kim HJ, the MOSAIK study group of the Korean Association for the Study of Intestinal Diseases (KASID)

  • Gut Liver.
  • 2020 Jul;14(4):459-467.
  • doi: 10.5009/gnl19107
Background/Aims: Limited data are available regarding psychosocial distress at the time of diagnosis of ulcerative colitis (UC). We investigated the psychosocial burden and factors related to poor health-related quality of...
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

Lee Y, Choi JH, Oh A, Kim GH, Park SH, Moon JE, Ko CW, Cheon CK, Yoo HW

  • Ann Pediatr Endocrinol Metab.
  • 2020 Jun;25(2):97-103.
  • doi: 10.6065/apem.1938152.076
Purpose: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is...
Risk Factors for Postoperative Recurrence in Korean Patients with Crohn’s Disease

Kim SB, Cheon JH, Park JJ, Kim ES, Jeon SW, Jung SA, Park DI, Lee CK, Im JP, Kim YS, Kim HS, Lee J, Eun CS, Lee JM, Jang BI, Seo GS

  • Gut Liver.
  • 2020 May;14(3):331-337.
  • doi: 10.5009/gnl19085
Background/Aims: A considerable number of patients with Crohn’s disease still need intestinal resection surgery. Postoperative recurrence is an important issue in Crohn’s disease management, including the selection of high-risk patients....
Genome-Wide Identification and Characterization of Point Mutations in the SARS-CoV-2 Genome

Kim JS, Jang JH, Kim JM, Chung YS, Yoo CK, Han MG

  • Osong Public Health Res Perspect.
  • 2020 May;11(3):101-111.
  • doi: 10.24171/j.phrp.2020.11.3.05
Objectives Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in Wuhan, China, in December 2019 and has been rapidly spreading worldwide. Although the causal relationship among mutations and the features of...
Detection and Isolation of SARS-CoV-2 in Serum, Urine, and Stool Specimens of COVID-19 Patients from the Republic of Korea

Kim JM, Kim HM, Lee EJ, Jo HJ, Yoon Y, Lee NJ, Son J, Lee YJ, Kim MS, Lee YP, Chae SJ, Park KR, Cho SR, Park S, Kim SJ, Wang E, Woo S, Lim A, Park SJ, Jang J, Chung YS, Chin BS, Lee JS, Lim D, Han MG, Yoo CK

  • Osong Public Health Res Perspect.
  • 2020 May;11(3):112-117.
  • doi: 10.24171/j.phrp.2020.11.3.02
Objectives Coronavirus Disease-19 (COVID-19) is a respiratory infection characterized by the main symptoms of pneumonia and fever. It is caused by the novel coronavirus severe acute respiratory syndrome Coronavirus-2 (SARS-CoV-2), which...
Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome

Kim YM, Lee YJ, Kim SY, Cheon CK, Lim HH

  • Ann Pediatr Endocrinol Metab.
  • 2020 Mar;25(1):52-56.
  • doi: 10.6065/apem.2020.25.1.52
Prader-Willi syndrome (PWS), an imprinting disorder, results from the loss of expression of a paternal gene on chromosome 15q11-q13. Progressive obesity and its associated complications lead to increased morbidity and...
Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease

Cheon CK

  • Clin Exp Pediatr.
  • 2020 Jan;63(1):14-15.
  • doi: 10.3345/kjp.2018.07402
Clinical Features and Outcomes of Tuberculosis in Inflammatory Bowel Disease Patients Treated with Anti-tumor Necrosis Factor Therapy

Kim J, Im JP, Yim JJ, Lee CK, Park DI, Eun CS, Jung SA, Shin JE, Lee KM, Cheon JH

  • Korean J Gastroenterol.
  • 2020 Jan;75(1):29-38.
  • doi: 10.4166/kjg.2020.75.1.29
BACKGROUND/AIMS: Anti-tumor necrosis factor (TNF) therapy is used widely for the treatment of inflammatory bowel disease (IBD). In the present study, the characteristics and outcomes of tuberculosis (TB) in IBD...
Evaluation and management of amenorrhea related to congenital sex hormonal disorders

Yoon JY, Cheon CK

  • Ann Pediatr Endocrinol Metab.
  • 2019 Sep;24(3):149-157.
  • doi: 10.6065/apem.2019.24.3.149
Primary amenorrhea is a symptom with a substantial list of underlying etiologies which presents in adolescence, although some conditions are diagnosed in childhood. Primary amenorrhea is defined as not having...
Seasonal patterns and etiologies of croup in children during the period 2010–2015: A multicenter retrospective study

Lee YJ, Kim HB, Kim BS, Kim CK, Kim CH, Kim HY, Kim S, Kim Y, Park C, Seo JH, Sol IS, Sung M, Song MS, Song DJ, Ahn YM, Oh HL, Yu J, Lee KS, Lee E, Lee JS, Jang GC, Jang YY, Chung EH, Chung HL, Choi SM, Choi YJ, Han MY, Yang HJ, Shim JY, Kim JT, The Pneumonia & Respiratory Disease Study Group of Korean Academy of Pediatric Allergy and Respiratory Disease

  • Allergy Asthma Respir Dis.
  • 2019 Apr;7(2):78-85.
  • doi: 10.4168/aard.2019.7.2.78
PURPOSE: Croup is known to have epidemics in seasonal and biennial trends, and to be strongly associated with epidemics of parainfluenza virus. However, seasonal and annual epidemics of croup have...
A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency

Kim YA, Kim SH, Cheon CK, Kim YM

  • Yonsei Med J.
  • 2019 Mar;60(3):308-311.
  • doi: 10.3349/ymj.2019.60.3.308
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inborn error of ketone body utilization, characterized by episodic or permanent ketosis. SCOT deficiency is caused by mutations in the OXCT1 gene,...
Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

Kim YM, Cheon CK, Lim HH, Yoo HW

  • J Genet Med.
  • 2018 Dec;15(2):102-106.
  • doi: 10.5734/JGM.2018.15.2.102
Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also...
Genetic overgrowth syndrome: A single center's experience

Cheon CK, Kim YM, Yoon JY, Kim YA

  • J Genet Med.
  • 2018 Dec;15(2):64-71.
  • doi: 10.5734/JGM.2018.15.2.64
PURPOSE: Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were...
Understanding of type 1 diabetes mellitus: what we know and where we go

Cheon CK

  • Korean J Pediatr.
  • 2018 Oct;61(10):307-314.
  • doi: 10.3345/kjp.2018.06870
The incidence of type 1 diabetes mellitus (T1DM) in children and adolescents is increasing worldwide. Combined effects of genetic and environmental factors cause T1DM, which make it difficult to predict...
A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture

Song JY, Mun SJ, Sung SK, Hwang JY, Baik SK, Kim JY, Cheon CK, Kim SY, Kim YM

  • Ann Pediatr Endocrinol Metab.
  • 2017 Sep;22(3):197-202.
  • doi: 10.6065/apem.2017.22.3.197
Cushing disease in children and adolescents, especially with multiple pituitary adenomas (MPAs), is very rare. We report 17-year-old boy with MPAs. He presented with a vertebral compression fracture, weight gain,...
Ocular Findings in Mucolipidosis Type II

Suh SY, Cheon CK, Jung JH

  • J Korean Ophthalmol Soc.
  • 2017 May;58(5):616-619.
  • doi: 10.3341/jkos.2017.58.5.616
PURPOSE: To report ocular findings of a mucolipidosis type II patient with novel mutation. CASE SUMMARY: A 10-year-old boy visited our pediatric genetic metabolic clinic for evaluation of his overall developmental...
Emergence of Norovirus GII.17-associated Outbreak and Sporadic Cases in Korea from 2014 to 2015

Jung S, Hwang BM, Jung H, Chung G, Yoo CK, Lee DY

  • Osong Public Health Res Perspect.
  • 2017 Feb;8(1):86-90.
  • doi: 10.24171/j.phrp.2017.8.1.12
Human norovirus are major causative agent of nonbacterial acute gastroenteritis. In general, genogroup (G) II.4 is the most prominent major genotype that circulate in human population and the environment. However,...
Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

Kim YA, Kim JY, Kim YM, Cheon CK

  • J Genet Med.
  • 2017 Dec;14(2):80-85.
  • doi: 10.5734/JGM.2017.14.2.80
Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder characterized by an abnormal accumulation of methylmalonyl-CoA and methylmalonate in body fluids without hyperhomocysteinemia. Cardiac disease is a rarely known lethal...
The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation

Kim YA, Kim YM, Lee YJ, Cheon CK

  • Korean J Pediatr.
  • 2017 Dec;60(12):408-412.
  • doi: 10.3345/kjp.2017.60.12.408
Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a...

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