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Understanding of type 1 diabetes mellitus: what we know and where we go
전종근 대한소아청소년과학회 2018 Clinical and Experimental Pediatrics (CEP) Vol.61 No.10
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 whether an individual will inherit the disease. Due to the level of self-care necessary in T1DM maintenance, it is crucial for pediatric settings to support achieving optimal glucose control, especially when adolescents are beginning to take more responsibility for their own health. Innovative insulin delivery systems, such as continuous subcutaneous insulin infusion (CSII), and noninvasive glucose monitoring systems, such as continuous glucose monitoring (CGM), allow patients with T1DM to achieve a normal and flexible lifestyle. However, there are still challenges in achieving optimal glucose control despite advanced technology in T1DM administration. In this article, disease prediction and current management of T1DM are reviewed with special emphasis on biomarkers of pancreatic β-cell stress, CSII, glucose monitoring, and several other adjunctive therapies.
Kabuki syndrome: clinical and molecular characteristics
전종근,고정민 대한소아청소년과학회 2015 Clinical and Experimental Pediatrics (CEP) Vol.58 No.9
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.
전종근,신용범,김수연,Go Hun Seo,Hane Lee,Changwon Keum,오승환 대한의학유전학회 2022 대한의학유전학회지 Vol.19 No.2
Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility of WES prospectively in undiagnosed genetic diseases. Materials and Methods: WES tests were performed on 110 patients (age range, 0-28 years) with suspected rare genetic diseas-es. WES tests were performed at a single reference laboratory and the variants reported were reviewed by clinical geneticists, pediatricians, neurologists, and laboratory physicians. Results: The patients’ symptoms varied with abnormalities in the head or neck, including facial dysmorphism, being the most common, identified in 85.4% of patients, followed by abnormalities in the nervous system (83.6%). The average number of systems manifesting phenotypic abnormalities per patient was 3.9±1.7. The age at presentation was 2.1±2.7 years old (range, 0-15 years), and the age at WES testing was 6.7±5.3 years (range, 0-28 years). In total, WES test reported 100 pathogenic/likely pathogenic variants or variants of uncertain significance for 79 out of 110 probands (71.8%). Of the 79 patients with positive or inconclusive calls, 55 (50.0%) patients were determined to have good genotype-phenotype correlations after careful re-view. Further clinical reassessment and family member testing determined 45 (40.9%) patients to have been identified with a molecular diagnosis. Conclusion: This study showed a 40.9% diagnostic yield for WES test for a heterogeneous patient cohort with suspected rare genetic diseases. WES could be the feasible genetic test modality to overcome the diversity and complexity of rare disease diagnostics.
Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea
전종근,김수영,유재호 대한소아청소년과학회 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.6
Moyamoya disease is a cerebrovascular condition that results in the narrowing of the vessels of thecircle of Willis and collateral vessel formation at the base of the brain. Although relationships betweenGraves’ disease and cerebrovascular accidents in Moyamoya disease are obscure, the coexistence ofthe two diseases is noteworthy. Moyamoya disease has been rarely reported in adolescent patientswith thyrotoxicosis. Recently, we encountered two adolescent Korean patients with Moyamoya diseaseassociated with Graves’ disease who presented with episodic right-sided hemiparesis and syncope. These two girls who had Graves’ disease had no history of other diseases or head trauma. A thyroidfunction test revealed a euthyroid state and a high thyroid-stimulating hormone (TSH) receptor antibodytiter at that time. The patients were diagnosed with Moyamoya disease based on brain magneticresonance angiography and cerebral four-vessel angiography. The patients underwent cranial revascularizationby encephalo-duroarterio-synangiosis as soon as a diagnosis was made, which resultedin successful symptom resolution. They fared well and had no additional neurological symptoms as oftheir last follow-up visits. Here, we report these two cases of confirmed Moyamoya disease complicated byGraves’ disease with a review of the literature, and discuss the possible association between the twodiseases. To our knowledge, this is the first report in South Korea on Moyamoya disease associatedwith Graves’ disease in adolescents with a euthyroid.