1.A Preterm Infant with TTN Gene Mutation Presenting with Cardiac Tamponade and Hydrops Fetalis: A Case Report
Jae Hun JEONG ; Young Hyun KIM ; Dong Won LEE
Neonatal Medicine 2025;32(1):49-54
Hydrops fetalis is a condition characterized by excessive fluid accumulation in the fetus, and is classified into immune and non-immune types depending on the underlying disease. Among cases of non-immune hydrops fetalis (NIHF), 15% to 20% are of cardiac origin, and genetic factors such as titin (TTN) gene mutations can contribute to cardiac dysfunction. We report the case of a preterm infant (29+2 weeks, 1,430 g) with hydrops fetalis who developed cardiac tamponade due to major pericardial effusion. Seven hours after birth, the heart rate suddenly decreased, and blood pressure could not be measured. Transthoracic echocardiography revealed substantial pericardial effusion and severely impaired cardiac function, and the preterm infant was diagnosed with pericardial tamponade. Emergency pericardiocentesis was performed, which led to hemodynamic stabilization. Genetic testing identified two heterozygous TTN mutations (c.13898A>T and c.27856G>T), with the latter presumed responsible for the observed cardiac dysfunction. The mother was found to carry the c.13898A>T mutation, but was asymptomatic. This case report highlights the importance of genetic testing in neonates with unexplained NIHF and cardiac complications. Identifying TTN gene mutations provides valuable insights into the underlying pathophysiology and guides clinical management.
2.Nuclear Medicine Imaging in Differentiated Thyroid Cancer: Summary of the Korean Thyroid Association Guidelines 2024 from Nuclear Medicine Perspective, Part‑I
So Won OH ; Sohyun PARK ; Ari CHONG ; Keunyoung KIM ; Ji‑In BANG ; Youngduk SEO ; Chae Moon HONG ; Sang‑Woo LEE
Nuclear Medicine and Molecular Imaging 2025;59(1):1-7
Thyroid cancer, one of the most common endocrine tumors, generally has a favorable prognosis but remains a significant medical and societal concern due to its high incidence. Early diagnosis and treatment of differentiated thyroid cancer (DTC) significantly affect long-term outcomes, requiring the selection and application of appropriate initial treatments to improve prognosis and quality of life. Recent advances in technology and health information systems have enhanced our understanding of the molecular genetics of thyroid cancer, facilitating the identification of aggressive subgroups and enabling the accumulation of research on risk factors through big data. The Korean Thyroid Association (KTA) has revised the “KTA Guidelines on the Management of Differentiated Thyroid Cancers 2024” to incorporate these advances, which were developed by a multidisciplinary team and underwent extensive review and approval processes by various academic societies. This article summarizes the 2024 KTA guidelines for nuclear medicine imaging in patients with DTC, written by the Nuclear Medicine members of the KTA Guideline Committee, and covers 18 F-FDG PET/CT and radioiodine imaging with SPECT/CT in the management of DTC.
3.Radioactive Iodine Therapy in Differentiated Thyroid Cancer: Summary of the Korean Thyroid Association Guidelines 2024 from Nuclear Medicine Perspective, Part-II
So Won OH ; Sohyun PARK ; Ari CHONG ; Keunyoung KIM ; Ji‑In BANG ; Youngduk SEO ; Chae Moon HONG ; Sang‑Woo LEE
Nuclear Medicine and Molecular Imaging 2025;59(1):8-26
Thyroid cancer, one of the most common endocrine tumors, generally has a favorable prognosis but remains a significant medical and societal concern due to its high incidence. Early diagnosis and treatment of differentiated thyroid cancer (DTC) significantly affect long-term outcomes, requiring the selection and application of appropriate initial treatments to improve prognosis and quality of life. Recent advances in technology and health information systems have enhanced our understanding of the molecular genetics of thyroid cancer, facilitating the identification of aggressive subgroups and enabling the accumulation of research on risk factors through big data. The Korean Thyroid Association (KTA) has revised the “KTA Guidelines on the Management of Differentiated Thyroid Cancers 2024” to incorporate these advances, which were developed by a multidisciplinary team and underwent extensive review and approval processes by various academic societies.This article summarizes the 2024 KTA guidelines for radioactive iodine (RAI) therapy in patients with DTC, written by the Nuclear Medicine members of the KTA Guideline Committee, and covers RAI therapy as initial management of DTC and RAI therapy in advanced thyroid cancer.
4.Plasma metabolite based clustering of breast cancer survivors and identification of dietary and health related characteristics: an application of unsupervised machine learning
Ga-Eun YIE ; Woojin KYEONG ; Sihan SONG ; Zisun KIM ; Hyun Jo YOUN ; Jihyoung CHO ; Jun Won MIN ; Yoo Seok KIM ; Jung Eun LEE
Nutrition Research and Practice 2025;19(2):273-291
BACKGROUND/OBJECTIVES:
This study aimed to use plasma metabolites to identify clusters of breast cancer survivors and to compare their dietary characteristics and health-related factors across the clusters using unsupervised machine learning.
SUBJECTS/METHODS:
A total of 419 breast cancer survivors were included in this crosssectional study. We considered 30 plasma metabolites, quantified by high-throughput nuclear magnetic resonance metabolomics. Clusters were obtained based on metabolites using 4 different unsupervised clustering methods: k-means (KM), partitioning around medoids (PAM), self-organizing maps (SOM), and hierarchical agglomerative clustering (HAC). The t-test, χ2 test, and Fisher’s exact test were used to compare sociodemographic, lifestyle, clinical, and dietary characteristics across the clusters. P-values were adjusted through a false discovery rate (FDR).
RESULTS:
Two clusters were identified using the 4 methods. Participants in cluster 2 had lower concentrations of apolipoprotein A1 and large high-density lipoprotein (HDL) particles and smaller HDL particle sizes, but higher concentrations of chylomicrons and extremely large very-low-density-lipoprotein (VLDL) particles and glycoprotein acetyls, a higher ratio of monounsaturated fatty acids to total fatty acids, and larger VLDL particle sizes compared with cluster 1. Body mass index was significantly higher in cluster 2 compared with cluster 1 (FDR adjusted-PKM < 0.001; PPAM = 0.001; PSOM < 0.001; and PHAC = 0.043).
CONCLUSION
The breast cancer survivors clustered on the basis of plasma metabolites had distinct characteristics. Further prospective studies are needed to investigate the associations between metabolites, obesity, dietary factors, and breast cancer prognosis.
5.Resveratrol attenuates aging-induced mitochondrial dysfunction and mitochondria-mediated apoptosis in the rat heart
Youngju CHOI ; Mi-Hyun NO ; Jun-Won HEO ; Eun-Jeong CHO ; Dong-Ho PARK ; Ju-Hee KANG ; Chang-Ju KIM ; Dae Yun SEO ; Jin HAN ; Hyo-Bum KWAK
Nutrition Research and Practice 2025;19(2):186-199
RESULTS:
Resveratrol significantly reduced cardiac hypertrophy and remodeling in aging hearts. In addition, resveratrol significantly ameliorated aging-induced mitochondrial dysfunction (e.g., decreased oxygen respiration and increased hydrogen peroxide emission) and mitochondria-dependent apoptotic signaling (the Bax/Bcl-2 ratio, mitochondrial permeability transition pore opening sensitivity, and cleaved caspase-3 protein levels).Resveratrol also significantly attenuated aging-induced apoptosis (determined via cleaved caspase-3 staining and TUNEL-positive myonuclei) in cardiac muscles.
CONCLUSION
This study demonstrates that resveratrol treatment has a beneficial effect on aging-induced cardiac remodeling by ameliorating mitochondrial dysfunction and inhibiting mitochondria-mediated apoptosis in the heart.
6.Dietary isoflavone intake among breast cancer survivors and cancer-free women
Sihan SONG ; Hyeong-Gon MOON ; Dong-Young NOH ; So-Youn JUNG ; Eun Sook LEE ; Zisun KIM ; Hyun Jo YOUN ; Jihyoung CHO ; Young Bum YOO ; Se Kyung LEE ; Jeong Eon LEE ; Seok Jin NAM ; Yoo Seok KIM ; Jun Won MIN ; Shinyoung JUN ; Hyojee JOUNG ; Jung Eun LEE
Nutrition Research and Practice 2025;19(1):80-95
BACKGROUND/OBJECTIVES:
Isoflavones are estrogen-like compounds found in plants and their health effects remain equivocal. We investigated dietary isoflavone intake and its associated factors in Korean breast cancer survivors, with a comparison to cancer-free women.
SUBJECTS/METHODS:
The usual dietary intake of breast cancer survivors (n = 981, mean age 52 yrs) in 9 hospitals between 2012 and 2019 was assessed using 3-day food records or food frequency questionnaires (FFQs). They were age-matched to 2,943 cancer-free women who completed FFQs as part of a nationwide study conducted between 2012 and 2016. We used the flavonoid database of common Korean foods and the Phenol-Explorer database to estimate isoflavone intake. The contribution of each food or food group to the total isoflavone intake was calculated. The adjusted least-squares means of dietary isoflavone intake according to lifestyle and clinical factors were calculated using generalized linear models.
RESULTS:
Breast cancer survivors had a higher mean dietary isoflavone intake (23.59 mg/day) than cancer-free women (17.81 mg/day). Major food sources, including tofu, soybeans, and doenjang, contributed to over 70% of the isoflavone intake in both groups. When we estimated dietary isoflavone intake according to lifestyle characteristics, isoflavone intake increased with higher scores of adherence to the American Cancer Society dietary guidelines but decreased with increasing body mass index in both groups. Among cancer-free women, dietary isoflavone intake was higher among those who had never smoked and among dietary supplement users. Among breast cancer survivors, dietary isoflavone intakes did not vary with clinical characteristics, including time since surgery and estrogen receptor status.
CONCLUSION
Breast cancer survivors were more likely to consume isoflavones than agematched cancer-free women. Dietary isoflavone intake was associated with healthy lifestyle characteristics in women both with and without breast cancer. Further research is needed to understand the role of the higher isoflavone intake among breast cancer survivors compared to cancer-free women on their prognosis.
7.Performance validation of the BD MAX Enteric Parasite Panel using simulated samples in low endemic regions
Bosung PARK ; Eun Jeong WON ; Heungsup SUNG ; Mi-Na KIM
Parasites, Hosts and Diseases 2025;63(1):50-56
Molecular diagnostics are essential for detecting intestinal parasites, but evaluating clinical samples from low endemic areas, including Korea, is challenging. We tested the performance of the BD MAX Enteric Parasite Panel in simulated samples for clinical use. Simulated samples were prepared with residual stool samples to confirm the diagnostic performance of the kits. Standard materials for Cryptosporidium parvum, Giardia lamblia, and Entamoeba histolytica were obtained for assessment. Limit of detection was determined by diluting standard materials into multiple concentrations and testing each in duplicate. Repeatability was assessed by retesting all samples twice. Accuracy was evaluated by comparing BD MAX System results with intended results. The limit of detection values obtained using standard materials were 781 cysts/ml, 6,250 oocysts/ml, and 125 DNA copies/ml for G. lamblia, C. parvum, and E. histolytica, respectively. Simulated G. lamblia-positive stool samples with concentrations above 6,250 cysts/ml consistently yielded positive results (100% concordance). However, C. parvum-positive stool samples at 6,250 oocysts/ml showed 50% concordance initially and 75% after retesting. At 62,500 oocysts/ml, the concordance rates were 89% initially and 100% after retesting. Overall agreement was 95.2%, but that for C. parvum was relatively low (82.4%). The diagnostic performances were 87.8% of sensitivity and 100% of specificity. Despite the limited clinical samples, BD MAX Enteric Parasite Panel showed good performance for clinical use, and spiked samples proved useful for evaluating protozoan PCR in low-incidence regions.
8.Pre-Treatment Perceived Social Support Is Associated With Chemotherapy-Induced Peripheral Neuropathy in Patients With Breast Cancer: A Longitudinal Study
Joon Sung SHIN ; Sanghyup JUNG ; Geun Hui WON ; Sun Hyung LEE ; Jaehyun KIM ; Saim JUNG ; Chan-Woo YEOM ; Kwang-Min LEE ; Kyung-Lak SON ; Jang-il KIM ; Sook Young JEON ; Han-Byoel LEE ; Bong-Jin HAHM
Psychiatry Investigation 2025;22(4):424-434
Objective:
Previous studies have reported an association between cancer-related symptoms and perceived social support (PSS). The objective of this study was to analyze whether Chemotherapy-Induced Peripheral Neuropathy (CIPN), a prevalent side effect of chemotherapy, varies according to PSS level using a validated tool for CIPN at prospective follow-up.
Methods:
A total of 39 breast cancer patients were evaluated for PSS using the Multidimensional Scale of Perceived Social Support (MSPSS) prior to chemotherapy and were subsequently grouped into one of two categories for each subscale: low-to-moderate PSS and high PSS. CIPN was prospectively evaluated using the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire-Chemotherapy-Induced Peripheral Neuropathy 20 (CIPN20) at five time points. A linear mixed-effects model with square root transformation was employed to investigate whether the CIPN20 scales varied by PSS level and time point.
Results:
Statistical analysis of the MSPSS total scale and subscales revealed a significant effect of the friends subscale group and time point on the CIPN20 sensory scale. The sensory scale score of CIPN20 was found to be lower in participants with high PSS from friends in comparison to those with low-to-moderate PSS at 1 month post-chemotherapy (p=0.010).
Conclusion
This is the first study to prospectively follow the long-term effect of pre-treatment PSS from friends on CIPN. Further studies based on larger samples are required to analyze the effects of PSS on the pathophysiology of CIPN.
9.Effects of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition Criteria Changes for Schizophrenia on Diagnoses of First-Episode Schizophrenia Spectrum Disorders
WooRi CHO ; Sung-Wan KIM ; Seung-Hee WON ; Bong-Ju LEE ; Naohisa TSUJINO ; Youji TAKUBO ; Taiju YAMAGUCHI ; Takahiro NEMOTO ; Ling LI ; Thi-Hung LE ; Fatima Zahra RAMI ; Young-Chul CHUNG
Psychiatry Investigation 2025;22(2):212-217
Objective:
Impact of Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) changes on the criteria for schizophrenia (SZ) has been reported to be minimal in previous studies. However, this could be different in first-episode schizophrenia spectrum disorders (FE-SSDs). We investigated what proportion of patients with FE-SSDs was diagnosed based on the sole presence of bizarre delusions (BDs) or first rank auditory hallucinations (FRAHs). Their alternative diagnosis by the DSM-5 was established and diagnostic stability over 1-year was identified.
Methods:
This was a retrospective review study on the medical records, case report forms for the subjects with FE-SSDs (n=404) participated in the Korea Early Psychosis Study. The two Japanese sites reviewed retrospectively only medical records of the subjects with FE-SSDs (n=103). We used three different definitions of BDs (strict, narrow, and broad) and specified subtypes of Other Specified Schizophrenia spectrum and Other psychotic disorders (OSSOs). To ensure inter-rater reliability between the hospitals, regular zoom meetings were held.
Results:
Forty (7.89%) subjects out of 507 were found to be diagnosed as SSDs based on the sole presence of BDs or FRAHs. All these patients met the criteria of OSSOs and were classified as having pure delusion (n=22), delusion with attenuated auditory hallucinations (AHs) (n=5), pure AHs (n=3) and AHs with attenuated delusion (n=10). The patients with first and second subtypes (n=27) were found to have BDs. The BDs fulfilled mostly strict definitions or satisfied the next broadest definition. The diagnostic stability of FE-OSSOs and its subgroups (first and second subtypes) over 1-year was substantially high (70.27% and 84% respectively).
Conclusion
These findings suggest that more rigorous diagnostic assessment should be performed especially to differentiate OSSOs from SZ in patients with FE-SSDs and more refined classification of the subtypes for OSSOs considered in the next DSM revision.
10.Effects of Methylphenidate and Atomoxetine Treatment on Improvement of Motor Coordination in Children With Attention-Deficit/Hyperactivity Disorder
Ju Yeon KIM ; Eunji JUNG ; Taeyeop LEE ; Kee Jeong PARK ; Yoo-Sook JOUNG ; Hyo-Won KIM
Psychiatry Investigation 2025;22(1):84-92
Objective:
To investigate the effects of methylphenidate and atomoxetine treatment on motor coordination in children with attention-deficit/hyperactivity disorder (ADHD).
Methods:
In this single-site, open-label, naturalistic follow-up study, 157 children (7.6±1.4 years; 139 males) with ADHD were recruited between March 2015 and May 2020 from the Department of Psychiatry, Asan Medical Center, and treated for 12 weeks with methylphenidate (n=48) or atomoxetine (n=109). Children completed the Advanced Test of Attention (ATA), and caregivers completed the ADHD Rating Scale (ARS) questionnaire and Developmental Coordination Disorder Questionnaire (DCDQ) at baseline and at 12 weeks. Paired t-tests, a mixed-effects model, and linear regression were used to compare treatment groups and assess factors influencing motor coordination changes.
Results:
Methylphenidate and atomoxetine resulted in significant improvement in DCDQ fine motor/handwriting, general coordination, and total scores over 12 weeks. Fine motor/handwriting had a significant main effect for time (F1=16.64, p<0.001, η2=0.097); however, the interaction effect between group and time was not significant (F1=0.24, p=0.625, η2=0.002). Changes in parent-reported ARS inattention scores (β=-0.174, p=0.029) and auditory commission errors of ATA (β=0.191, p=0.022) were significantly associated with changes in fine motor/handwriting. Additionally, changes in parent-reported ARS inattention scores (β=-0.177, p=0.034) and rater-reported ARS inattention scores (β=-0.198, p=0.017) were significant predictors of improvements in general coordination in separate models.
Conclusion
Methylphenidate and atomoxetine had a positive effect on motor coordination in children with ADHD. Improvement in motor coordination was associated with ADHD symptom improvement.

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