1.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2026;34(1):108-108
2.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
3.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
4.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
5.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
6.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
7.Dual Specificity Phosphatase 27 Regulates Pluripotency and Meso-Endodermal Differentiation by Interacting with Transcription Factor CP2 Like-1 in Embryonic Stem Cells
Sujin SONG ; Jinbeom HEO ; Siwon LEE ; Yun Ji NAM ; YongHwan KIM ; Hyein JU ; Hyungu KWON ; Hyun Jun IM ; Seok Woo HA ; Hyun Ji KIM ; Dabin LEE ; Sang Jin PARK ; Sang Hoon SONG ; Juhyun PARK ; Eui Man JEONG ; Kyunggon KIM ; Dong-Myung SHIN ; Seungun LEE
International Journal of Stem Cells 2025;18(4):412-425
Transcription factor CP2-like protein 1 (Tfcp2l1), a naïve pluripotency transcription factor, is expressed in both early embryonic and adult tissues, where it enforces pluripotency of embryonic stem cells (ESCs) and stemness features of cancer cells, respectively. However, the detailed molecular pathways by which Tfcp2l1 is regulated in early embryonic development and cancer cells remain unknown. Here, we identified the pseudophosphatase dual specificity phosphatase 27 (Dusp27), also known as serine/threonine/tyrosine-interacting like-2, as a novel Tfcp2l1-interacting protein through a sterile alpha motif-like domain in the C-terminus of Tfcp2l1 in murine ESCs. The interaction between Dusp27 and Tfcp2l1 was dependent on the cell cycle status and increased during mitosis. Expression of Dusp27 was upregulated during naïve pluripotency and repressed during spontaneous differentiation of murine ESCs. Ectopic expression of Dusp27 enhanced the transcriptional activity of Tfcp2l1 and promoted features associated with the naïve pluripotent state, while suppressing meso-endodermal lineage differentiation. The present study demonstrates that Dusp27 is a novel positive regulator of Tfcp2l1 through a physical interaction and thereby fine-tunes the pluripotency status and meso-endodermal differentiation of murine ESCs.
8.Clinical Analysis and Red Flag Signs in Pediatric Headache According to Age
Yoon Hee JO ; Yoo Jung LEE ; Donghyun SHIN ; Soo Young LYU ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2024;32(2):122-129
Purpose:
The clinical characteristics of headaches vary by age among pediatric patients. Red flag signs are key factors in differentiating secondary headaches and should be considered in the context of the patient’s age.
Methods:
This study involved a retrospective chart review of pediatric patients presenting with headaches. Patients were categorized by age into three groups: pre-school age (under 6 years), school-age (6 to 12 years), and adolescence (over 12 years). Demographic data, headache characteristics, laboratory findings, and neuroimaging results were evaluated. Overall, 17 potential red flags were assessed.
Results:
A total of 687 patients were included, of whom 102 were of pre-school age, 314 were school-aged, and 271 were adolescents. The frequency of overweight/obesity was found to increase with age. The pre-school age group experienced a shorter period from symptom onset to presentation and a briefer duration of pain. In contrast, adolescents displayed a longer period from symptom onset, a greater frequency of headaches occurring at least three times per week, and a higher rate of headache episodes lasting over 3 days. Children under 6 years old were more commonly diagnosed with secondary headaches than older children. Across age groups, secondary headaches were suspected when systemic symptoms such as fever were present, when the headache had a sudden onset, when the patient responded poorly to medication, or when abnormal neurological signs and symptoms were observed.
Conclusion
The clinical features of pediatric patients vary by age group. Clinicians should consider red flag signs in the context of patient age and individual characteristics.
9.Developing national level high alert medication lists for acute care setting in Korea
Ji Min HAN ; Kyu-Nam HEO ; Ah Young LEE ; Sang il MIN ; Hyun Jee KIM ; Jin-Hee BAEK ; Juhyun RHO ; Sue In KIM ; Ji yeon KIM ; Haewon LEE ; Eunju CHO ; Young-Mi AH ; Ju-Yeun LEE
Korean Journal of Clinical Pharmacy 2022;32(2):116-124
Background:
High-alert medications (HAMs) are medications that bear a heightened risk of causing significant patient harm if used in error. To facilitate safe use of HAMs, identifying specific HAM lists for clinical setting is necessary. We aimed to develop the national level HAM list for acute care setting.
Methods:
We used three-step process. First, we compiled the pre-existing lists referring HAMs. Second, we analyzed medication related incidents reported from national patient safety incident report data and adverse events indicating medication errors from the Korea Adverse Event Reporting System (KAERS).We also surveyed the assistant staffs to support patient safety tasks and pharmacist in charge of medication safety in acute care hospital. From findings from analysis and survey results we created additional candidate list of HAMs. Third, we derived the final list for HAMs in acute care settings through expert panel surveys.
Results:
From pre-existing HAM list, preliminary list consisting of 42 medication class/ingredients was derived. Eight assistant staff to support patient safety tasks and 39 pharmacists in charge of medication safety responded to the survey. Additional 44 medication were listed from national patient safety incident report data, KAERS data and common medications involved in prescribing errors and dispensing errors from survey data. A list of mandatory and optional HAMs consisting of 10 and 6 medication classes, respectively, was developed by consensus of the expert group.
Conclusion
We developed national level HAM list for Korean acute care setting from pre-existing lists, analyzing medication error data, survey and expert panel consensus.
10.Bone health in pediatric patients with neurological disorders
Ara KO ; Juhyun KONG ; Furkat SAMADOV ; Akmal MUKHAMEDOV ; Young Mi KIM ; Yun-Jin LEE ; Sang Ook NAM
Annals of Pediatric Endocrinology & Metabolism 2020;25(1):15-23
Patients with neurological disorders are at high risk of developing osteoporosis, as they possess multiple risk factors leading to low bone mineral density. Such factors include inactivity, decreased exposure to sunlight, poor nutrition, and the use of medication or treatment that can cause lower bone mineral density such as antiepileptic drugs, ketogenic diet, and glucocorticoids. In this article, mechanisms involved in altered bone health in children with neurological disorders and management for patients with epilepsy, cerebral palsy, and Duchenne muscular dystrophy regarding bone health are reviewed.

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