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Perirenal and epicardial fat and their association with carotid intima-media thickness in children

López-Bermejo A, Prats-Puig A, Osiniri I, Martínez-Calcerrada JM, Bassols J

Recent data suggest that subclinical atherosclerosis is more related to visceral adipose tissue distribution than to overall fat mass. Both perirenal fat and epicardial fat are visceral fat depots surrounding...
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Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature

Cascais M, Pereira E, Vieira A, Venâncio , Ramos L, Moleiro P

Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of...
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Two cases of ketosis-prone diabetes mellitus in Korean adolescents

Hwang WB, Kim JH, Cho SM

In recent years, reports of diabetes mellitus (DM) cases that do not fit the traditional classification system have increased in prevalence. While insulin deficiency appears as type 1 DM (T1DM),...
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Skeletal mineralization: mechanisms and diseases

Michigami

Skeletal mineralization is initiated in matrix vesicles (MVs), the small extracellular vesicles derived from osteoblasts and chondrocytes. Calcium and inorganic phosphate (Pi) taken up by MVs form hydroxyapatite crystals, which...
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Korean reference for full-term birth length by sex: data from the 4th Korean National Health and Nutrition Examination Survey (KNHANES-IV; 2007–2009)

Kim JH, Lee JA, Kim DH, Lim JS

PURPOSE: The purpose of this study was to construct reference data for birth length of full-term and preterm Korean infants by sex and to define a sex-specific birth length cut-off...
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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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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

Lee CG, Jang JH, Seo JY

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most...
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Follow-up of infants with congenital hypothyroidism and low total thyroxine/thyroid stimulating hormone on newborn screen

McCormick , Pitts L, Hughes Z

PURPOSE: Newborn screening (NBS) methods to detect congenital hypothyroidism (CH) vary regarding whether total thyroxine (T4), thyroid stimulating hormone (TSH), or both are measured. Neonates with low T4 and normal...
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Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis

Kim YM, Oh A, Kim KS, Yoo HW, Choi JH

PURPOSE: Patients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia. The...
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Application of body composition zones in boys with nonalcoholic fatty liver disease

Choi M, Lee S, Bae SH, Chung S

PURPOSE: Screening nonalcoholic fatty liver disease (NAFLD) by body mass index (BMI) as a single surrogate measure for obesity has limitations. We suggest considering body composition zones by drawing a...
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