1.Clinical Spectrum and Treatment Outcomes in Korean Pediatric Patients with CHD2-Related Disorders: Limited Genotype–Phenotype Correlation
You Min KANG ; Se Hee KIM ; Joon Soo LEE ; Ara KO ; Hoon-Chul KANG
Annals of Child Neurology 2026;34(2):126-135
Purpose:
The chromodomain helicase DNA-binding (CHD) protein family comprises adenosine triphosphate-dependent chromatin remodelers that regulate chromatin structure and gene expression. Pathogenic CHD2 variants are associated with neurodevelopmental phenotypes, but these genotype–phenotype correlations remain unclear. This study aimed to delineate the clinical and genetic features of patients with CHD2-related disorders and to explore the associated genotype–phenotype relationships.
Methods:
Among 22 patients with pathogenic or likely pathogenic CHD2 variants identified using a customized 172-gene neurodevelopmental and epilepsy panel, 19 with sufficient clinical data were included. Demographic, clinical, neuroimaging, electroencephalographic, and genetic data were retrospectively reviewed.
Results:
Eighteen pathogenic or likely pathogenic variants were identified, including eight novel variants: nine nonsense (50.0%), five splice-site (27.8%), two missense (11.1%), and two exon deletions (11.1%). All patients had epilepsy, with a median age of seizure onset of 2.33 years. Comorbidities included global developmental delay (89.5%), intellectual disability (82.0%), and neuropsychiatric symptoms (47.4%). Seizure types were heterogeneous, with a predominance of generalized-onset seizures, and 13 patients (68.4%) achieved seizure freedom. Marked phenotypic variability was observed: two unrelated patients with the same truncating variant had different developmental and seizure-related profiles, a symptomatic child with an inherited exon 5 deletion contrasted with her asymptomatic father, and a patient with an exon 17–29 deletion exhibited relatively mild features.
Conclusion
Epilepsy was a consistent manifestation in this study and was accompanied by diverse developmental and neurobehavioral features, with substantial genotype–phenotype discordance. Further research on genotype–phenotype correlation is warranted.
2.Continuous Positive Airway Pressure Therapy Alters Monocyte Activation and Immune Phenotype in Obstructive Sleep Apnea in Relation to Hypoxic Burden
Seung-No HONG ; Ara JO ; Jin-A PARK ; Hee-Suk LIM ; Kyoung Mi EUN ; Jivianne T LEE ; Jeffrey D SUH ; Dae Woo KIM
Clinical and Experimental Otorhinolaryngology 2026;19(2):177-184
Objectives:
. Obstructive sleep apnea (OSA) is associated with chronic intermittent hypoxia and systemic inflammation, both of which contribute to vascular and metabolic complications. Monocytes, as key immune cells of innate immunity, have been implicated in this inflammatory state. However, the effect of OSA treatment on monocyte function and inflammatory phenotype remains poorly understood.
Methods:
. In this prospective cohort study, OSA patients were evaluated before and after 3 months of continuous positive airway pressure (CPAP) therapy. Circulating monocytes were isolated, and inflammatory cytokine production (tumor necrosis factor [TNF]-α, interleukin [IL]-1β, and IL-6) was assessed at baseline and post-treatment, both at rest and after lipopolysaccharide (LPS) stimulation. Monocyte polarization (M1/M2-like marker expression) was measured by flow cytometry. Clinical severity parameters, including the apnea-hypopnea index (AHI) and oxygen desaturation index (ODI), were correlated with immune changes.
Results:
. Following CPAP treatment, LPS-induced inflammatory cytokine secretion and LPS responsiveness, defined as the increase in cytokine levels upon stimulation, both declined after CPAP in proportion to baseline ODI, but not AHI. Apart from TNF-α, baseline IL-1β and IL-6 levels were below the quantifiable range of the assay, which precluded reliable comparison after treatment. This effect may be explained by a parallel post-treatment shift in monocyte phenotype toward an anti-inflammatory M2-like (CD163+CD206+) profile, as demonstrated by our flow cytometry data, which was also significantly associated with baseline ODI.
Conclusion
. CPAP alleviates systemic inflammation in OSA by reducing hypoxic burden and reprogramming monocytes toward an anti-inflammatory phenotype. The magnitude of immune modulation was more closely linked to ODI than AHI, suggesting that oxygen desaturation burden serves as a meaningful adjunct to AHI in assessing monocyte-driven immune dysregulation in OSA.
3.A survey of anesthesiologists aged 60 years and older in Korea: current status, challenges, and future strategies
Won Uk KOH ; Shamin Ara SULTANA ; Jong Ho KIM ; So Young LIM ; Sang woo KIM ; Sung Mi HWANG ; Youngsuk KWON ; Jae Jun LEE ; Hong Seuk YANG
Anesthesia and Pain Medicine 2025;20(1):86-97
Background:
As the global population ages, medical professionals are also aging. This study investigates the status of Korean anesthesiologists over the age of 60.
Methods:
Anesthesiologists aged 60 and older, residing and working in Korea, were invited to participate in this study via e-mail from February to March 2021 and by mail from June to August 2021. The survey consisted of 40 questions covering 10 topics, including health status, residence, work style, and economic status. Depending on the type of question, answers were ranked on a scale of 1, 2, and 3, with the most preferred response being selected.
Results:
A total of 63 responses were received, resulting in a response rate of 26.5%. Among the respondents, 56 were currently practicing as anesthesiologists and reported satisfaction with their clinical practice and life status. On average, they treated 24 patients per day without experiencing significant discomfort or inconvenience in their roles as senior physicians. Twenty-four respondents acknowledged physical discomfort related to aging, and nine expressed cautions regarding age-related changes. Fifty-two respondents indicated that reeducation for advanced medical practice as anesthesiologists was necessary.
Conclusions
Senior anesthesiologists in Korea are primarily working in secondary and tertiary hospitals and are satisfied with their current life status. A comprehensive evaluation of reeducation programs for advanced clinical practice and retirement strategies for senior anesthesiologists is needed to address the growing number of aging physicians in the workforce.
4.Asia-Pacific Menopause Federation Consensus Statement on the Management of Menopause 2024
Seng Bin ANG ; Stella Rizalina Sasha SUGIANTO ; Felicia Clara Jun Hui TAN ; Sonia DAVISON ; Qi YU ; Masakazu TERAUCHI ; Mee-Ran KIM ; Jignesh SHAH ; Shaikh Zinnat Ara NASREEN ; Choon Moy HO ; Enkhee SODNOMDORJ ; Muhammad Fidel Ganis SIREGAR ; Rubina HUSSAIN ; Ma Corazon Zaida NOBLEJAS-GAMILLA ; Yang CHUA ; Yung-Chieh TSAI ; Unnop JAISAMRARN
Journal of Menopausal Medicine 2025;31(1):3-11
Objectives:
This study aimed to achieve expert consensus on menopause management in the Asia-Pacific region, taking into account patient diversity, the latest evidence, and current treatment options.
Methods:
A focused literature search was performed to identify clinical practice statements on menopause management. Menopause experts were nominated by members of the Asia-Pacific Menopause Federation (APMF) society. A modified Delphi methodology, involving iterative rounds of anonymous surveys, was employed until consensus was reached for each statement. Consensus was defined as ≥ 70% of experts voting ‘agree’ or ‘strongly agree’ for a given clinical practice statement.
Results:
A total of 39 participants from 14 different APMF member societies were involved. Eighty-five clinical practice statements reached a consensus. Based on the clinical practice statements, an algorithm was created as a tool to guide clinicians on menopause management. APMF experts agreed that, in addition to vasomotor symptoms, Asian women experiencing somatic or psychological symptoms may also benefit from treatment with menopausal hormone therapy (MHT). MHT should also be considered for the prevention of osteoporosis in asymptomatic peri- and postmenopausal women.
Conclusions
This APMF consensus statement supersedes the previous one published in 2008. It provides guidance to gynecologists, endocrinologists, family physicians, and other healthcare professionals in delivering optimal care to menopausal women in the ethnically and culturally diverse Asia-Pacific region.
5.Asia-Pacific Menopause Federation Consensus Statement on the Management of Menopause 2024
Seng Bin ANG ; Stella Rizalina Sasha SUGIANTO ; Felicia Clara Jun Hui TAN ; Sonia DAVISON ; Qi YU ; Masakazu TERAUCHI ; Mee-Ran KIM ; Jignesh SHAH ; Shaikh Zinnat Ara NASREEN ; Choon Moy HO ; Enkhee SODNOMDORJ ; Muhammad Fidel Ganis SIREGAR ; Rubina HUSSAIN ; Ma Corazon Zaida NOBLEJAS-GAMILLA ; Yang CHUA ; Yung-Chieh TSAI ; Unnop JAISAMRARN
Journal of Menopausal Medicine 2025;31(1):3-11
Objectives:
This study aimed to achieve expert consensus on menopause management in the Asia-Pacific region, taking into account patient diversity, the latest evidence, and current treatment options.
Methods:
A focused literature search was performed to identify clinical practice statements on menopause management. Menopause experts were nominated by members of the Asia-Pacific Menopause Federation (APMF) society. A modified Delphi methodology, involving iterative rounds of anonymous surveys, was employed until consensus was reached for each statement. Consensus was defined as ≥ 70% of experts voting ‘agree’ or ‘strongly agree’ for a given clinical practice statement.
Results:
A total of 39 participants from 14 different APMF member societies were involved. Eighty-five clinical practice statements reached a consensus. Based on the clinical practice statements, an algorithm was created as a tool to guide clinicians on menopause management. APMF experts agreed that, in addition to vasomotor symptoms, Asian women experiencing somatic or psychological symptoms may also benefit from treatment with menopausal hormone therapy (MHT). MHT should also be considered for the prevention of osteoporosis in asymptomatic peri- and postmenopausal women.
Conclusions
This APMF consensus statement supersedes the previous one published in 2008. It provides guidance to gynecologists, endocrinologists, family physicians, and other healthcare professionals in delivering optimal care to menopausal women in the ethnically and culturally diverse Asia-Pacific region.
6.Asia-Pacific Menopause Federation Consensus Statement on the Management of Menopause 2024
Seng Bin ANG ; Stella Rizalina Sasha SUGIANTO ; Felicia Clara Jun Hui TAN ; Sonia DAVISON ; Qi YU ; Masakazu TERAUCHI ; Mee-Ran KIM ; Jignesh SHAH ; Shaikh Zinnat Ara NASREEN ; Choon Moy HO ; Enkhee SODNOMDORJ ; Muhammad Fidel Ganis SIREGAR ; Rubina HUSSAIN ; Ma Corazon Zaida NOBLEJAS-GAMILLA ; Yang CHUA ; Yung-Chieh TSAI ; Unnop JAISAMRARN
Journal of Menopausal Medicine 2025;31(1):3-11
Objectives:
This study aimed to achieve expert consensus on menopause management in the Asia-Pacific region, taking into account patient diversity, the latest evidence, and current treatment options.
Methods:
A focused literature search was performed to identify clinical practice statements on menopause management. Menopause experts were nominated by members of the Asia-Pacific Menopause Federation (APMF) society. A modified Delphi methodology, involving iterative rounds of anonymous surveys, was employed until consensus was reached for each statement. Consensus was defined as ≥ 70% of experts voting ‘agree’ or ‘strongly agree’ for a given clinical practice statement.
Results:
A total of 39 participants from 14 different APMF member societies were involved. Eighty-five clinical practice statements reached a consensus. Based on the clinical practice statements, an algorithm was created as a tool to guide clinicians on menopause management. APMF experts agreed that, in addition to vasomotor symptoms, Asian women experiencing somatic or psychological symptoms may also benefit from treatment with menopausal hormone therapy (MHT). MHT should also be considered for the prevention of osteoporosis in asymptomatic peri- and postmenopausal women.
Conclusions
This APMF consensus statement supersedes the previous one published in 2008. It provides guidance to gynecologists, endocrinologists, family physicians, and other healthcare professionals in delivering optimal care to menopausal women in the ethnically and culturally diverse Asia-Pacific region.
7.Current Trends in Gastric Cancer Surgery and Postoperative Care
Sin Hye PARK ; Ara CHO ; Dong Jin KIM
The Korean Journal of Helicobacter and Upper Gastrointestinal Research 2025;25(4):308-318
The surgical management of gastric cancer has evolved rapidly, with minimally invasive, function-preserving, and fluorescence-guided techniques increasingly adopted as standard practice. Laparoscopic and robotic gastrectomies have shown comparable long-term oncologic outcomes while providing improved perioperative recovery, and individualized reconstruction methods further enhance postoperative quality of life. Recent trials support the use of neoadjuvant chemotherapy for locally advanced disease, demonstrating improved recurrence-free survival. Postoperative management has shifted its focus from early complication prevention to long-term care, addressing nutritional deficiencies and functional syndromes such as anemia, osteoporosis, dumping syndrome, and gastrointestinal dysfunction. Close coordination between surgeons and multidisciplinary care teams is crucial to ensure the prompt management of postoperative complications, including bleeding, leakage, and abscess formation. The implementation of structured protocols for nutritional assessment, micronutrient supplementation, and comprehensive long-term surveillance is strongly advocated to optimize patient survival and preserve postoperative quality of life. This review summarizes the latest evidence and trends in surgical and postoperative care for gastric cancer, highlighting the importance of standardized, evidence-based protocols and individualized patient care strategies.
8.Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy
Hui Jin SHIN ; Ara KO ; Se Hee KIM ; Joon Soo LEE ; Hoon-Chul KANG
Journal of Clinical Neurology 2024;20(4):402-411
Background:
and Purpose There is extensive literature on monogenic epilepsies caused by mutations in familiar channelopathy genes such as SCN1A. However, information on other lesscommon channelopathy genes is scarce. This study aimed to explore the genetic and clinical characteristics of patients diagnosed with unusual voltage-gated sodium and potassium channelopathies related to epilepsy.
Methods:
This observational, retrospective study analyzed pediatric patients with epilepsy who carried pathogenic variants of unusual voltage-gated sodium and potassium channelopathy genes responsible for seizure-associated phenotypes. Targeted next-generation sequencing (NGS) panel tests were performed between November 2016 and June 2022 at Severance Children’s Hospital, Seoul, South Korea. Clinical characteristics and the treatment responses to different types of antiseizure medications were further analyzed according to different types of gene mutation.
Results:
This study included 15 patients with the following unusual voltage-gated sodium and potassium channelopathy genes: SCN3A (n=1), SCN4A (n=1), KCNA1 (n=1), KCNA2 (n=4), KCNB1 (n=6), KCNC1 (n=1), and KCNMA1 (n=1). NGS-based genetic testing identified 13 missense mutations (87%), 1 splice-site variant (7%), and 1 copy-number variant (7%). Developmental and epileptic encephalopathy was diagnosed in nine (60%) patients. Seizure freedom was eventually achieved in eight (53%) patients, whereas seizures persisted in seven (47%) patients.
Conclusions
Our findings broaden the genotypic and phenotypic spectra of less-common voltage-gated sodium and potassium channelopathies associated with epilepsy.
9.Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing
Sangbo LEE ; Se Hee KIM ; Heung Dong KIM ; Joon Soo LEE ; Ara KO ; Hoon-Chul KANG
Journal of Clinical Neurology 2024;20(5):519-528
Background:
and Purpose Neonatal encephalopathy (NE) is a neurological syndrome that presents with severe neurological impairments and complications. Hypoxic-ischemic encephalopathy is a major contributor to poor outcomes, being responsible for 50%–80% of admissions to neonatal intensive care units. However, some cases of NE accompanied by hypoxic brain damage cannot be solely attributed to hypoxia-ischemia. We aimed to identify diverse pathogenic genetic variations that may be associated with cases of NE accompanied by hypoxic brain damage rather than hypoxia-ischemia.
Methods:
We collected data from 34 patients diagnosed with NE accompanied by hypoxic brain damage over a 10-year period. Patients with the following specific conditions were excluded: 1) premature birth (<32 weeks), 2) no history of hypoxic events, 3) related anomalies, 4) neonatal infections, 5) antenatal or perinatal obstetrical complications, 6) severe hypoxia due to other medical conditions, and 7) early death (within 1 week). A comprehensive review of clinical and radiological features was conducted.
Results:
A genetic diagnosis was made in 11 (32.4%) patients, with pathogenic variants being identified in the following 9 genes: CACNA1A (n=2), KCNQ2 (n=2), SCN2A (n=1), SCN8A (n=1), STXBP1 (n=1), NSD1 (n=1), PURA (n=1), ZBTB20 (n=1), and ENG (n=1). No specific treatment outcomes or clinical features other than preterm birth were associated with the results of the genetic analyses. Personalized treatments based on the results of genetic tests were attempted, such as the administration of sodium-channel blockers in patients with KCNQ2 or SCN8A variants and the implementation of a ketogenic diet in patients with STXBP1 or SCN2A mutations, which demonstrated some degree of effectiveness in these patients.
Conclusions
Genetic analyses may help in diagnosing the underlying etiology of NE and concurrent hypoxic brain damage, irrespective of the initial clinical features.Keywords targeted gene panel sequencing; neonatal encephalopathy;hypoxic brain damage; hypoxic-ischemic encephalopathy.
10.Decreased Serum Cocaine- and Amphetamine-Regulated Transcript Level in Internet Gaming Disorder
Ara CHO ; Heejin LEE ; Dong Huey CHEON ; So Young YOO ; Arom PYEON ; Ji-Won CHUN ; Ji Hyun BACK ; Yae Eun PARK ; Dai-Jin KIM ; Ji Eun LEE ; Jung-Seok CHOI
Psychiatry Investigation 2024;21(7):755-761
Objective:
Vulnerability to internet gaming disorder (IGD) has increased as internet gaming continues to grow. Cocaine- and amphetamine-regulated transcript (CART) is a hormone that plays a role in reward, anxiety, and stress. The purpose of this study was to identify the role of CART in the pathophysiology of IGD.
Methods:
The serum CART levels were measured by enzyme-linked immunosorbent assay, and the associations of the serum CART level with psychological variables were analyzed in patients with IGD (n=31) and healthy controls (HC) (n=42).
Results:
The serum CART level was significantly lower in the IGD than HC group. The IGD group scored significantly higher than the HC group on the psychological domains of depression, anxiety, the reward response in the Behavioral Activation System and Behavioral Inhibition System. There were no significant correlations between serum CART level and other psychological variables in the IGD group.
Conclusion
Our results indicate that a decrease in the expression of the serum CART level is associated with the vulnerability of developing IGD. This study supports the possibility that CART is a biomarker in the pathophysiology of IGD.

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