26 results on '"Sung, Yon"'
Search Results
2. Quantum-dot nanoprobes and AOTF based cross talk eliminated six color imaging of biomolecules in cellular system
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Park, Solji, Arumugam, Parthasarathy, Purushothaman, Baskaran, Kim, Sung-Yon, Min, Dal-Hee, Jeon, Noo Li, and Song, Joon Myong
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- 2017
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3. 3D microengineered vascularized tumor spheroids for drug delivery and efficacy testing.
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Ahn, Jungho, Kim, Da-Hyun, Koo, Dong-Jun, Lim, Jungeun, Park, Tae-Eun, Lee, Jungseub, Ko, Jihoon, Kim, Seongchan, Kim, Minjae, Kang, Kyung-Sun, Min, Dal-Hee, Kim, Sung-Yon, Kim, YongTae, and Jeon, Noo Li
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DRUG efficacy ,TUMOR growth ,GENE expression ,EXPOSURE dose - Abstract
Tumor angiogenesis is regarded as a promising target for limiting cancer progression because tumor-associated vasculature supplies blood and provides a path for metastasis. Thus, in vitro recapitulation of vascularized tumors is critical to understand the pathology of cancer and identify the mechanisms by which tumor cells proliferate, metastasize, and respond to drugs. In this study, we microengineered a vascularized tumor spheroid (VTS) model to reproduce the pathological features of solid tumors. We first generated tumor-EC hybrid spheroids with self-assembled intratumoral vessels, which enhanced the uniformity of the spheroids and peritumoral angiogenic capacity compared to spheroids composed only with cancer cells. Notably, the hybrid spheroids also exhibited expression profiles associated with aggressive behavior. The blood vessels sprouting around the hybrid spheroids on the VTS chip displayed the distinctive characteristics of leaky tumor vessels. With the VTS chip showing a progressive tumor phenotype, we validated the suppressive effects of axitinib on tumor growth and angiogenesis, which depended on exposure dose and time, highlighting the significance of tumor vascularization to predict the efficacy of anticancer drugs. Ultimately, we effectively induced both lymphangiogenesis and angiogenesis around the tumor spheroid by promoting interstitial flow. Thus, our VTS model is a valuable platform with which to investigate the interactions between tumor microenvironments and explore therapeutic strategies in cancer. We conducted an integrative study within a vascularized tumor spheroid (VTS) model. We first generated tumor-EC hybrid spheroids with self-assembled intratumoral vessels, which enhanced the uniformity of the spheroids and peritumoral angiogenic capacity compared to spheroids composed only with cancer cells. Through RNA sequencing, we elucidated that the tumor-EC hybrid spheroids exhibited expression profiles associated with aggressive behavior such as cancer progression, invasion and metastasis. The blood vessels sprouting around the hybrid spheroids on the VTS chip displayed the distinctive characteristics of leaky tumor vessels. We further validated the suppressive effects of axitinib on tumor growth and angiogenesis, depending on exposure dose and time. Ultimately, we effectively induced both lymphangiogenesis and angiogenesis around the tumor spheroid by promoting interstitial flow. [Display omitted] [ABSTRACT FROM AUTHOR]
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- 2023
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4. Effect of Mycoplasma pneumoniae lysate on interleukin-8 gene expression in human respiratory epithelial cells *
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Sohn, Myung Hyun, Lee, Kyung Eun, Choi, Sung Yon, Kwon, Byoung Chul, Chang, Myung Woong, and Kim, Kyu-Earn
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Interleukin-8 -- Dosage and administration -- Research ,Protein kinases -- Research ,Epithelial cells -- Research ,Mycoplasma pneumoniae -- Drug therapy -- Research ,Health ,Drug therapy ,Research ,Dosage and administration - Abstract
Study objectives: Mycoplasma pneumoniae is a common cause of lower respiratory disease. Several studies have suggested that respiratory infection by M pneumoniae is associated with reactive airway disease and asthma. [...]
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- 2005
5. Functional Dissection of Glutamatergic and GABAergic Neurons in the Bed Nucleus of the Stria Terminalis.
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Seong-Rae Kim and Sung-Yon Kim
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The bed nucleus of the stria terminalis (BNST)--a key part of the extended amygdala--has been implicated in the regulation of diverse behavioral states, ranging from anxiety and reward processing to feeding behavior. Among the host of distinct types of neurons within the BNST, recent investigations employing cell type- and projectionspecific circuit dissection techniques (such as optogenetics, chemogenetics, deep-brain calcium imaging, and the genetic and viral methods for targeting specific types of cells) have highlighted the key roles of glutamatergic and GABAergic neurons and their axonal projections. As anticipated from their primary roles in excitatory and inhibitory neurotransmission, these studies established that the glutamatergic and GABAergic subpopulations of the BNST oppositely regulate diverse behavioral states. At the same time, these studies have also revealed unexpected functional specificity and heterogeneity within each subpopulation. In this Minireview, we introduce the body of studies that investigated the function of glutamatergic and GABAergic BNST neurons and their circuits. We also discuss unresolved questions and future directions for a more complete understanding of the cellular diversity and functional heterogeneity within the BNST. [ABSTRACT FROM AUTHOR]
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- 2021
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6. Investigation on vascular cytotoxicity and extravascular transport of cationic polymer nanoparticles using perfusable 3D microvessel model.
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Jeon, Noo Li, Ahn, Jungho, Cho, Chong-Su, Cho, Seong Woo, Kang, Joo H., Park, Tae-Eun, Kim, Sung-Yon, Min, Dal-Hee, and Song, Joon Myong
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BLOOD vessels ,CATIONIC polymers ,NUCLEIC acids ,NANOPARTICLES ,ELECTROSTATIC interaction ,ENDOSOMES ,GENE delivery techniques - Abstract
Vascular networks are the first sites exposed to cationic polymer nanoparticles (NPs) administered intravenously, and thus function as a barrier for NPs reaching the target organ. While cationic polymer NPs have been intensively studied as non-viral delivery systems, their biological effects in human microvessels have been poorly investigated due to a lack of appropriate in vitro systems. Here, we employed a three-dimensional microvessel on a chip, which accurately models in vivo conditions. An open and perfused microvessel surrounded by pericytes was shown to reproduce the important features of living vasculature, including barrier function and biomarkers. Using this microvessel chip, we observed contraction of the microvascular lumen induced by perfused polyethylenimine (PEI)/DNA NPs. We demonstrated that the oxidative stress present when microvessels were exposed to PEI NPs led to rearrangement of microtubules resulting in microvessel contraction. Furthermore, the transcytotic behavior of PEI NPs was analyzed in the microvessel by monitoring the escape of PEI NPs from the microvascular lumen into the perivascular region, which was not possible in two-dimensional culture systems. With our new understanding of the different behaviors of cationic polymer NPs depending on their transcytotic route, we suggest that caveolae-mediated transcytosis is a powerful route for efficient extravascular transport. Statement of Significance Microvascular networks are not only biological system constituting largest surface area in the body and but also first site exposed to nanoparticle in vivo . While cationic polymer NPs have been intensively studied as non-viral delivery systems, its biological effects in human microvessel have been poorly investigated due to lack of appropriate in vitro systems. Here, we microengineered an open and perfused 3D pericyte incorporated microvessel model which possesses same morphological characteristic of in vivo . Using the microengineered model, this study represents the first report of transcytotic behavior of NPs in 3D microvessel, and its effect on extravasation efficiency. Our study lays the groundwork for the integration of innovative technologies to examine blood vessel-nanoparticle interaction, which a critical but ill-defined phenomenon. [ABSTRACT FROM AUTHOR]
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- 2018
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7. Clearing and Labeling Techniques for Large-Scale Biological Tissues.
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Jinyoung Seo, Minjin Choe, and Sung-Yon Kim
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Clearing and labeling techniques for large-scale biological tissues enable simultaneous extraction of molecular and structural information with minimal disassembly of the sample, facilitating the integration of molecular, cellular and systems biology across different scales. Recent years have witnessed an explosive increase in the number of such methods and their applications, reflecting heightened interest in organ-wide clearing and labeling across many fields of biology and medicine. In this review, we provide an overview and comparison of existing clearing and labeling techniques and discuss challenges and opportunities in the investigations of large-scale biological systems. [ABSTRACT FROM AUTHOR]
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- 2016
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8. A Diencephalic Dopamine Source Provides Input to the Superior Colliculus, where D1 and D2 Receptors Segregate to Distinct Functional Zones.
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Bolton, Andrew D., Murata, Yasunobu, Kirchner, Rory, Kim, Sung-Yon, Young, Andrew, Dang, Tru, Yanagawa, Yuchio, and Constantine-Paton, Martha
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Summary Modulation of neural responses is frequently observed in the superior colliculus (SC), a retinorecipient midbrain structure that controls orienting and the localization of attention. Although behavioral contingencies that influence SC responses are well documented, the neural pathways and molecular mechanisms responsible for this modulation are not completely understood. Here, we illustrate a dopaminergic system that strongly impacts neural responses in the SC. After using RNA sequencing (RNA-seq) to detail the transcriptome of dopamine-related genes in the SC, we show that D1 receptors are enriched in the superficial visual SC, while D2 receptors segregate to the intermediate multimodal/motor SC. Retrograde injections into the SC consistently label A13, a small dopamine cell group located in the zona incerta. We surmise that A13 mimics dopaminergic effects that we observed in SC slices, which suggests that dopamine in the SC may reduce the tendency of an animal to orient or attend to salient stimuli. [ABSTRACT FROM AUTHOR]
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- 2015
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9. Pseudopathologic vertebral body enhancement in the presence of superior vena cava obstruction on computed tomography.
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Kim, Yoon Kyung, Sung, Yon Mi, Hwang, Kyung Hoon, Cho, Eun Kyung, and Choi, Hye-Young
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SUPERIOR vena cava syndrome , *INTERVERTEBRAL disk , *COMPUTED tomography , *PATHOLOGICAL physiology , *COLLATERAL circulation - Abstract
Background context Superior vena cava (SVC) obstruction can cause the development of collateral vessels. During contrast-enhanced thoracic computed tomography (CT), contrast material may reflux into the collaterals such as paravertebral venous plexus. However, an unusual pseudopathologic vertebral body enhancement on CT in the presence of SVC obstruction has not been studied previously. Purpose To demonstrate clinical presentation and imaging findings of pseudopathologic vertebral body enhancement in patients with SVC obstruction. Study design Retrospective study of diagnostic CT images examined at our clinic. Patient sample From March, 2009 to September, 2012, a retrospective radiologic database review was performed to identify patients with obstruction of SVC causing contrast reflux into collateral vessels and presented with an unusual vertebral body enhancement on thoracic CT. Thirteen patients (11 men, mean age 51.4 years) with vertebral body enhancement were enrolled. Outcome measures Enhancement patterns of vertebral bodies were classified as nodular enhancement with round shape occupying less than one-third of vertebral body or polygonal enhancement occupying greater than or equal to one-third of vertebral body on axial image. The locations of enhanced areas within vertebral bodies were described using right lateral/central/left lateral, anterior/posterior, and upper/middle/lower in the x-, y-, or z-axis directions, respectively. Materials and methods Enhancement patterns, locations, and the presence of a connection between vertebral body enhancement and the paravertebral venous plexus were evaluated. Results A total of 39 vertebral body enhancements were found in the 13 patients, involving cervical (n=12), thoracic (n=25), or lumbar (n=2) vertebrae. Vertebral body enhancements showed a nodular (n=19) or a polygonal (n=20) pattern. The central portions of vertebral bodies were more frequently involved. The connection to the paravertebral venous plexus was observed in 34 lesions (87.2%). Conclusions Patients with SVC obstruction with extensive collateral vessels might exhibit a pseudopathologic vertebral enhancement. They tended to involve the central portion of the vertebral body, and most of them showed connection to the paravertebral venous plexus. [ABSTRACT FROM AUTHOR]
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- 2015
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10. Light microscopy mapping of connections in the intact brain.
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Kim, Sung-Yon, Chung, Kwanghun, and Deisseroth, Karl
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MICROSCOPY , *NEURAL circuitry , *BRAIN mapping , *NEUROPLASTICITY , *BRAIN anatomy , *DATA analysis - Abstract
Mapping of neural connectivity across the mammalian brain is a daunting and exciting prospect. Current approaches can be divided into three classes: macroscale, focusing on coarse inter-regional connectivity; mesoscale, involving a finer focus on neurons and projections; and microscale, reconstructing full details of all synaptic contacts. It remains to be determined how to bridge the datasets or insights from the different levels of study. Here we review recent light-microscopy-based approaches that may help in integration across scales. [ABSTRACT FROM AUTHOR]
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- 2013
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11. Influence of pulverized coal properties on heat release region in turbulent jet pulverized coal flames
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Sung, Yon mo, Moon, Cheor eon, Kim, Jong ryul, Kim, Sung chul, Kim, Tea hyung, Seo, Sang il, Choi, Gyung min, and Kim, Duck jool
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PULVERIZED coal , *HEAT transfer , *TURBULENCE , *VOLATILE organic compounds , *PARTICLE size distribution , *CHEMILUMINESCENCE , *TEMPERATURE effect , *EXPERIMENTAL design - Abstract
Abstract: The effects of pulverized coal properties, volatile matter, particle size and moisture content, on the heat release region in turbulent jet pulverized coal flames were investigated experimentally. To understand the accuracy of line of sight measurement in the two-dimensional (2-D) visualization, point measurements of chemiluminescence intensity by cassegrain optics were also conducted. The heat release region for the structure of pulverized coal flame was observed through visualization by CH∗ chemiluminescence image with an intensified high-speed camera, and by CH∗ chemiluminescence intensity for local point measurements. The streamwise length of the heat release region based on 2-D visualizations was about 11.4% longer than that of point measurements and increased proportionally to the volatile matter content. The temperature rise for 35–45μm coal particles was faster than that for 75–90μm particles, which resulted in a shift of reaction region toward upstream direction. The length of heat release region depends upon the particle size and the volatile matter. However, the coal moisture content less than 15% shows minor effect on the heat release region comparison to volatile matter and coal size within our experimental conditions. [Copyright &y& Elsevier]
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- 2011
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12. The influence of liquid crystal display monitors on observer performance for the detection of interstitial lung markings on both storage phosphor and flat-panel-detector chest radiography
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Sung, Yon Mi, Chung, Myung Jin, Lee, Kyung Soo, and Choe, Bong-Keun
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INTERSTITIAL lung diseases , *CHEST X rays , *CATHODE ray tubes , *MEDICAL digital radiography , *TOMOGRAPHY , *RECEIVER operating characteristic curves ,IMAGE quality of liquid crystal displays - Abstract
Abstract: Purpose: To compare observer performance with a flat-panel liquid crystal display (LCD) monitor and with a high-resolution gray-scale cathode ray tube (CRT) monitor in the detection of interstitial lung markings using a silicon flat-panel-detector direct radiography (DR) and storage phosphor computed radiography (CR) in a clinical setting. Materials and methods: We displayed 39 sets of posteroanterior chest radiographs from the patients who were suspected of interstitial lung disease. Each sets consisted of DR, CR and thin-section CT as the reference standard. Image identities were masked, randomly sorted, and displayed on both five mega pixel (2048×2560×8 bits) LCD and CRT monitors. Ten radiologists independently rated their confidence in detection for the presence of linear opacities in the four fields of the lungs; right upper, left upper, right lower, and left lower quadrant. Performance of a total 6240 (39 sets×2 detector systems×2 monitor system×4 fields×10 observers) observations was analyzed by multi-reader multi-case receiver operating characteristic (ROC) analysis. Differences between monitor systems in combinations of detector systems were compared using ANOVA and paired-samples t-test. Results: Area under curves (AUC) for the presence of linear opacities measured by ROC analysis was higher on the LCDs than CRTs without statistical significance (p =0.082). AUC was significantly higher on the DR systems than CR systems (p =0.006). AUC was significantly higher on the LCDs than CRTs for DR systems (p =0.039) but not different for CR systems (p =0.301). Conclusion: In clinical conditions, performance of the LCD monitor appears to be better for detecting interstitial lung markings when interfaced with DR systems. [Copyright &y& Elsevier]
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- 2010
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13. Imaging of Congenital Aorta-Right Atrial Tunnel With Electrocardiogram Gated 64-Multi-Slice Computed Tomography.
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Sung, Yon Mi and Merchant, Naeem
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- 2011
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14. Anomalous Great Cardiac Vein Draining Into the Superior Vena Cava.
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Lee, Hyo Min, Sung, Yon Mi, and Lee, Jae-Ik
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- 2011
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15. Cardiac genetic test yields and genotype-phenotype correlations from large cohort investigated by medical examiner's office.
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Saxton, Sarah, Kontorovich, Amy R., Wang, Dawei, Zhou, Bo, Um, Sung Yon, Lin, Ying, Rojas, Lisa, Tyll, Erin, Dickinson, Gregory, Stram, Michelle, Harris, Cynthia K., Gelb, Bruce D., Sampson, Barbara A., Graham, Jason K., and Tang, Yingying
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MEDICAL examiners (Law) , *MEDICAL genetics , *HYPERTROPHIC cardiomyopathy , *AUTOPSY , *GENETIC testing - Abstract
• High yield genetic testing in decedents with overt or subtle myocardial changes. • MYBPC3, TTN, PKP2, SCN5A, MYH7 , and FLNC had most pathogenic variants. • Cardiac pathology indications warrant genetic testing regardless of decedent's age. • Postmortem genetic testing informs risk management of surviving family. Few reports describe the yield of postmortem genetic testing from medical examiners' offices or correlate genetic test results with autopsy-confirmed phenotypes from a large cohort. To report results from cardiomyopathy- and cardiac arrhythmia-associated genetic testing in conjunction with autopsy findings of cases investigated at the United States' largest medical examiner office. Postmortem cases tested from 2015 to 2022 with a cardiomyopathy- and cardiac arrhythmia-associated gene panel were reviewed. American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines were used to classify variant pathogenicity. Correlations of pathogenic/likely pathogenic variants (P/LPVs) with cardiac pathology were evaluated. The cohort included 1107 decedents of diverse ages and ethnicities. P/LPVs were detected in 87 (7.9%) cases, with 73 and 14 variants in cardiomyopathy and cardiac arrhythmia genes, respectively. Variants of uncertain significance were detected in 437 (39.5%) cases. The diagnostic yield (percentage of P/LPV) in decedents with cardiomyopathy (26.1%) was significantly higher than those without (P <.0001). The diagnostic yield was significantly lower in infants (0.7%) than older age groups (ranging from 1 to 74 years old, 5.7%-25.9%), which had no statistical difference between their yields. The diagnostic yields by cardiac autopsy findings were 54.0% for hypertrophic cardiomyopathy, 47.1% for arrhythmogenic cardiomyopathy, 20.0% for myocardial fibrosis, 19.0% for dilated cardiomyopathy, and 11.3% for myocarditis. Most P/LPVs were in MYBPC3, TTN, PKP2, SCN5A, MYH7 , and FLNC. Ten P/LPVs were novel. Our results support the importance of performing postmortem genetic testing on decedents of all ages with cardiomyopathy, cardiac lesions insufficient to diagnosis a specific cardiomyopathy (e.g., myocardial fibrosis), and myocarditis. Combined postmortem cardiac examination and genetic analysis are advantageous in accurately determining the underlying cause of death and informing effective clinical care of family members. [ABSTRACT FROM AUTHOR]
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- 2024
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16. Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.
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Dawei Wang, Shah, Krunal R., Um, Sung Yon, Eng, Lucy S., Bo Zhou, Ying Lin, Mitchell, Adele A., Nicaj, Leze, Prinz, Mechthild, McDonald, Thomas V., Sampson, Barbara A., and Yingying Tang
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SUDDEN death , *EPIDEMIOLOGY , *ARRHYTHMIA , *ION channels , *AUTOPSY - Abstract
Sudden unexplained deaths (SUD) in apparently healthy individuals, for which the causes of deaths remained undetermined after comprehensive forensic investigations and autopsy, present vexing challenges to medical examiners and coroners. Cardiac channelopathies, a group of inheritable diseases that primarily affect heart rhythm by altering the cardiac conduction system, have been known as one of the likely causes of SUD. Adhering to the recommendations of including molecular diagnostics of cardiac channelopathies in SUD investigation, the Molecular Genetics Laboratory of the New York City (NYC) Office of Chief Medical Examiner (OCME) has been routinely testing for six major channelopathy genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, and RyR2) since 2008. Presented here are the results of cardiac channelopathy testing in 274 well-characterized autopsy negative SUD cases, all with thorough medicolegal death investigation including complete autopsy by NYC OCME between 2008 and 2012. The cohort consisted of 141 infants (92.9% younger than six-month old) and 133 non-infants (78.2% were between 19 and 58 years old). Among the ethnically diverse cohort, African American infants had the highest risks of SUD, and African American non-infants died at significantly younger age (23.7 years old, mean age-at-death) than those of other ethnicities (30.3 years old, mean age-at-death). A total of 22 previously classified cardiac channelopathy-associated variants and 24 novel putative channelopathyassociated variants were detected among the infants (13.5%) and non-infants (19.5%). Most channelopathy-associated variants involved the SCN5A gene (68.4% in infants, 50% in non-infants). We believe this is the first study assessing the role of cardiac channelopathy genes in a large and demographically diverse SUD population drawn from a single urban medical examiner's office in the United States. Our study supports that molecular testing for cardiac channelopathy is a valuable tool in SUD investigations and provides helpful information to medical examiners/coroners seeking cause of death in SUD as well as potentially life-saving information to surviving family members. [ABSTRACT FROM AUTHOR]
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- 2014
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17. Pulmonary metastases from colorectal cancer: imaging findings and growth rates at follow-up CT
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Kim, Eun Young, Lee, Jae-Ik, Sung, Yon Mi, Cho, So Hyun, Shin, Dong Bok, Kim, Young Saing, and Baek, Jeong-Heum
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METASTASIS , *COLON cancer , *FOLLOW-up studies (Medicine) , *CANCER tomography , *IMAGING of cancer , *LUNG cancer - Abstract
Abstract: The objective of the study was to evaluate the computed tomographic (CT) features and growth rates of pulmonary metastases from colorectal cancer (CRC) on serial CT scans. The study included 17 patients (28 pulmonary metastases) who underwent metastasectomy from CRC. The characteristic CT features include well-defined round or oval nodules in the peripheral or subpleural/fissural lung with frequent feeding vessel sign. The mean tumor volume doubling time was calculated as 160 days. With these growth rates, short-term follow-up (i.e., 5–6 months) would be helpful. [Copyright &y& Elsevier]
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- 2012
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18. Multidetector CT findings of skeletal chest injuries secondary to cardiopulmonary resuscitation
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Kim, Eun Young, Yang, Hyuk Jun, Sung, Yon Mi, Cho, So Hyun, Kim, Jeong Ho, Kim, Hyung Sik, and Choi, Hye-Young
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CHEST injuries , *TOMOGRAPHY , *CARDIOPULMONARY resuscitation , *RIB injuries , *STERNUM fractures , *CHEST X rays , *BIOSENSORS - Abstract
Abstract: Introduction: Rib and sternal fractures are frequent complications of cardiopulmonary resuscitation (CPR) in adults. This is the first study to evaluate the MDCT findings of chest injuries secondary to CPR, by comparing with the findings of radiography. Methods: For 40 patients who underwent MDCT after CPR for a non-traumatic cause of cardiac arrest, we evaluated the MDCT findings of the CPR associated traumatic chest injuries and compared the diagnostic performance of chest radiography and MDCT for the evaluation of chest injuries. Results: MDCT revealed that 26 patients (65%) had rib fractures and 12 patients (30%) had sternal fractures. However, radiography detected only 10 patients who had rib fractures. In 25 of the 26 cases, multiple ribs were fractured (ranging up to 13 rib fractures), and the rib fractures were bilateral in 18 of these cases. The majority of rib fractures were located in the anterior part of the thoracic cage. Six of the patients had fracture-related complications (pneumothorax=1, subclavian vein injury=1, chest wall hematoma=4). The sternal fractures predominantly occurred in the middle and lower third of the sternal body (five each for the middle and lower third of the sternal body). Conclusion: Rib and sternal fractures are frequent complications in patients who underwent CPR. MDCT is useful for the evaluation of chest injuries secondary to CPR as compared with that of radiography and also for the evaluation of the fracture-related complications. [Copyright &y& Elsevier]
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- 2011
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19. Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series.
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Williams, Nori, Marion, Robert, McDonald, Thomas V., Wang, Dawei, Zhou, Bo, Eng, Lucy S., Um, Sung Yon, Lin, Ying, Ruiter, Kevin, Rojas, Lisa, Sampson, Barbara A., and Tang, Yingying
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AUTOPSY , *HYPERTROPHIC cardiomyopathy , *SUDDEN death , *HUMAN genetic variation , *TOXICITY testing - Abstract
Abstract Our aim is to characterize predicted protein-truncating variants (PTVs) in MYBPC3 , the gene most commonly associated with hypertrophic cardiomyopathy (HCM), found in a series of autopsied HCM cases after sudden unexpected cardiac death. All cases underwent death scene investigation, gross and microscopic autopsies, toxicological testing, a review of medical records, and a molecular analysis of 95 cardiac genes. We found four pathogenic PTVs in MYBPC3 among male decedents. All variants were previously submitted to ClinVar without phenotype details. Two PTVs were located in the cardiac-specific myosin S2-binding (M) motif at the N-terminus of the MYBPC3- encoded cMyBP-C protein, and two PTVs were in the non-cardiac-specific C-terminus of the protein. The carriers of two cardiac-specific M-motif PTVs died at age 38 years; their heart weight (HW, g) and body mass index (BMI, kg/m2) ratio were 34.90 (890/25.5) and 23.56 (980/41.6), respectively. In contrast, the carriers of two non-cardiac-specific C-terminal PTVs died at age 57 and 67 years, respectively; their HW and BMI ratio were 14.71 (450/30.6) and 13.98 (600/42.9), respectively. A detailed three-generation family study was conducted in one case. This study showed age-at-death variations among MYBPC3 PTVs carriers in adult males. Highlights • Hypertrophic cardiomyopathy (HCM) is an important cause of sudden unexpected cardiac death (SUCD). • This case series characterizes four SUCD cases, for which cardiac arrhythmia due to HCM was determined as the direct cause of death through comprehensive forensic investigation and molecular testing. • Each of these cases has a pathogenic predicted protein-truncating variant (PTV) in the MYBPC3 gene. • Severity of the HCM and the age at death with regards to the MYBPC3 PTVs were analyzed. [ABSTRACT FROM AUTHOR]
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- 2018
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20. Molecular genetic characterization of sudden deaths due to thoracic aortic dissection or rupture.
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Saxton, Sarah, Dickinson, Gregory, Wang, Dawei, Zhou, Bo, Um, Sung Yon, Lin, Ying, Rojas, Lisa, Sampson, Barbara A., Graham, Jason K., and Tang, Yingying
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AORTIC rupture , *SUDDEN death , *AORTIC dissection , *SUDDEN death prevention , *CHILD death , *GENETIC testing - Abstract
• Three percent of deaths tested for cardiovascular genetics are due to aortopathies. • Postmortem genetic test yield is 23.5% for aortopathy deaths. • FBN1, TGFBR2, TGFBR1 genes had greatest number of pathogenic variants. • Aortopathy postmortem genetic testing informs risk management for surviving family. Sudden deaths due to thoracic aortic dissection or rupture (TADR) are often investigated by forensic pathologists in the United States. Up to a quarter of reported TADR result from a highly penetrant autosomal dominant single gene variant. Testing genes associated with familial TADR provides an underlying etiology for the cause of death and informs effective sudden death prevention for at-risk family members. At the New York City Office of Chief Medical Examiner (NYC-OCME), TADR cases are routinely tested by the in-house, CAP-accredited Molecular Genetics Laboratory. In this retrospective study, TADR and cardiovascular cases were reviewed to understand the burden of TADR in sudden deaths, value of molecular diagnostic testing in TADR, and genotype-phenotype correlations in a demographically diverse TADR cohort. Between July 2019 and June 2022, cases with in-house cardiovascular genetic testing at NYC-OCME were retrospectively reviewed. Twenty genes associated with familial TADR were analyzed using high throughput massive parallel sequencing on postmortem tissues or bloodspot cards. Variant interpretation was conducted according to ACMG/AMP guidelines. A total of 1078 cases were tested for cardiovascular genetic conditions, of which 34 (3%) had TADR. Eight of those TADR cases had a pathogenic or likely pathogenic variant (P/LPV), 4 had a variant of uncertain significance (VUS), and 22 cases were negative for variants in TADR genes. The molecular diagnostic yield using the TADR subpanel was 23.5%. The genes with the greatest prevalence of P/LPV were FBN1 (6), followed by TGFBR2 (2), TGFBR1 (1), and MYLK (1). Highly penetrant P/LPV in TGFBR2, FBN1, and TGFBR1 were found in TADR individuals who died younger than 34 years old. Two P/LPV in FBN1 were secondary findings unrelated to cause of death. P/LPV in FBN1 included five truncating variants located in the N-terminal domains and one missense variant involved in the disulfide bonds of the EGF-like domain. All P/LPV in TGFBR1 and TGFBR2 were missense or in-frame deletion variants located in the protein kinase catalytic domain. Three variants were first reported in this study. Molecular testing of familial TADR-associated genes is a highly effective tool to identify the genetic cause of TADR sudden deaths and benefits surviving at-risk families. [ABSTRACT FROM AUTHOR]
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- 2023
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21. Promotion of airway anastomotic microvascular regeneration and alleviation of airway ischemia by deferoxamine nanoparticles.
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Jiang, Xinguo, Malkovskiy, Andrey V., Tian, Wen, Sung, Yon K., Sun, Wenchao, Hsu, Joe L., Manickam, Sathish, Wagh, Dhananjay, Joubert, Lydia-Marie, Semenza, Gregg L., Rajadas, Jayakumar, and Nicolls, Mark R.
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AIRWAY (Anatomy) , *REGENERATION (Biology) , *ISCHEMIA , *HYPOXEMIA , *LUNG transplantation , *DEFEROXAMINE , *NANOPARTICLES , *DISEASES - Abstract
Abstract: Airway tissue ischemia and hypoxia in human lung transplantation is a consequence of the sacrifice of the bronchial circulation during the surgical procedure and is a major risk factor for the development of airway anastomotic complications. Augmented expression of hypoxia-inducible factor (HIF)-1α promotes microvascular repair and alleviates allograft ischemia and hypoxia. Deferoxamine mesylate (DFO) is an FDA-approved iron chelator which has been shown to upregulate cellular HIF-1α. Here, we developed a nanoparticle formulation of DFO that can be topically applied to airway transplants at the time of surgery. In a mouse orthotopic tracheal transplant (OTT) model, the DFO nanoparticle was highly effective in enhancing airway microvascular perfusion following transplantation through the production of the angiogenic factors, placental growth factor (PLGF) and stromal cell-derived factor (SDF)-1. The endothelial cells in DFO treated airways displayed higher levels of p-eNOS and Ki67, less apoptosis, and decreased production of perivascular reactive oxygen species (ROS) compared to vehicle-treated airways. In summary, a DFO formulation topically-applied at the time of surgery successfully augmented airway anastomotic microvascular regeneration and the repair of alloimmune-injured microvasculature. This approach may be an effective topical transplant-conditioning therapy for preventing airway complications following clinical lung transplantation. [Copyright &y& Elsevier]
- Published
- 2014
- Full Text
- View/download PDF
22. Multidetector CT and radiographic findings of lung injuries secondary to cardiopulmonary resuscitation.
- Author
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Cho, So Hyun, Kim, Eun Young, Choi, Seung Joon, Kim, Yoon Kyung, Sung, Yon Mi, Choi, Hye-Young, Cho, Jinseong, and Yang, Hyuk Jun
- Subjects
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COMPUTED tomography , *LUNG injuries , *CARDIOPULMONARY resuscitation , *LUNG abnormalities , *MEDICAL radiography , *PATIENTS - Abstract
Abstract: Objectives: Lung injury is one of the complications of cardiopulmonary resuscitation (CPR). This is the first study to describe the MDCT and radiographic findings of lung injuries secondary to CPR. Methods: A total of 44 patients who underwent CPR for a non-traumatic cause of cardiac arrest were retrospectively included in this study. We evaluated the presence of lung injuries in the initial chest radiograph and MDCT performed immediately after CPR and described the MDCT and radiographic findings of the CPR-associated lung injuries. Finally, we evaluated the temporal pattern of lung injury on the follow-up radiographies. Results: Chest CT demonstrated lung injury in 54 lungs of 35 patients, while initial chest radiography detected lung abnormality in 37 lungs of 28 patients. The most common patterns of lung injuries on chest CT were bilateral (n =19), ground-glass opacity (n =30) and consolidation (n =26), distributed along the bronchovascular bundles (n =13). Most of the abnormalities were located in the posterior part of both upper lobes and both lower lobes (n =29). Among seven patients who did not have abnormalities in the initial chest radiograph, lung abnormalities were detected on the follow-up radiographies (mean follow-up duration =1.6 days, range=1–3 days) in five patients, and 28 patients who had lung abnormalities on initial radiograph were improved (n =19) or aggravated (n =8) on the follow-up radiographies. Conclusions: Lung injuries are frequent complications in patients who underwent CPR. Compared with radiography, MDCT has benefits for the detection and characterisation of CPR-associated lung injuries. The most common findings of lung injuries after CPR were bilateral ground glass opacity and consolidation, usually in the dependent area of both lungs. [Copyright &y& Elsevier]
- Published
- 2013
- Full Text
- View/download PDF
23. Utilization of wood biomass char in a direct carbon fuel cell (DCFC) system
- Author
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Ahn, Seong Yool, Eom, Seong Yong, Rhie, Young Hoon, Sung, Yon Mo, Moon, Cheor Eon, Choi, Gyung Min, and Kim, Duck Jool
- Subjects
- *
WOOD , *BIOMASS , *CARBON , *FUEL cells , *CHAR , *ALTERNATIVE fuels , *CHEMICAL reactions , *POWER density - Abstract
Abstract: Wood biomass char was used in a direct carbon fuel cell (DCFC) as an alternative fuel. This has many advantages because the DCFC is a high-efficiency system and wood biomass is a carbon-free and regenerative material. Several analytical techniques were employed to analyze the characteristics of three fuels, their effects on the cell’s performance, and the electrochemical reactions between the fuels and the electrolyte in the system. The morphological and textural characteristics of biomass char were similar to those of two types of coal used as fuels for a DCFC system in spite of the char’s significantly lower carbon content. A practical evaluation of the fuels used in the DCFC system was conducted, and when using the biomass char, the maximum power density was 60–70% that of the corresponding value for coal under the same conditions. The performance of the biomass char fuel was improved by stirring. The possibility of its practical application was also discussed. [Copyright &y& Elsevier]
- Published
- 2013
- Full Text
- View/download PDF
24. Application of refuse fuels in a direct carbon fuel cell system
- Author
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Ahn, Seong Yool, Eom, Seong Yong, Rhie, Young Hoon, Sung, Yon Mo, Moon, Cheor Eon, Choi, Gyung Min, and Kim, Duck Jool
- Subjects
- *
REFUSE as fuel , *CARBON sequestration , *FUEL cells , *ELECTROCHEMICAL analysis , *POWER density , *ADSORPTION (Chemistry) , *VISCOSITY , *ELECTROLYTES - Abstract
Abstract: Refuse derive fuel and refuse plastic/paper fuel were evaluated in a direct carbon fuel cell (DCFC) system as energy sources, and two different grades of coals were also employed for comparison. The maximum power density of refuse fuels was reached up to 43–62% level comparing to that of coals, despite their significantly low carbon content. Significant properties such as thermal reactivity, nitrogen gas adsorption characteristics, and functional groups on the surface of the fuel were investigated using the TGA (thermogravimetric analysis), BET (Brunauer–Emmett–Teller test), and XPS (X-ray photoelectron spectroscopy) techniques, respectively. The correlation between fuel properties and electrochemical reactions was investigated, and it was found that the total carbon content, surface area, pore volume, and oxygen functional groups on the surface might have an influence on the reactions in the DCFC system. The effect of temperature increase from 973 K to 1023 K was restricted in the RDF (refuse derived fuel) because of its highly activated gasification phenomenon. The stirring effect could improve the performance of the RDF and the RPF only at 1023 K and 923 K, respectively, because of thermal characteristics and certain substances that affected the viscosity of the electrolyte. [Copyright &y& Elsevier]
- Published
- 2013
- Full Text
- View/download PDF
25. Sternal fracture in the emergency department: Diagnostic value of multidetector CT with sagittal and coronal reconstruction images
- Author
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Kim, Eun Young, Yang, Hyuk Jun, Sung, Yon Mi, Hwang, Kyung-Hoon, Kim, Jeong Ho, and Kim, Hyung Sik
- Subjects
- *
DIAGNOSIS of bone fractures , *HOSPITAL emergency services , *TOMOGRAPHY , *IMAGE reconstruction , *TRAFFIC accidents , *MEDICAL radiography - Abstract
Abstract: Background: Multidetector CT (MDCT) is being increasingly used for patients with traumatic injuries in the emergency room. This is the first study to evaluate the diagnostic performance of MDCT for sternal fracture. Patients and methods: For 87 patients who had motor vehicle accidents, we evaluated the diagnostic performance of MDCT for the sternal fractures. For 31 patients who underwent both MDCT and lateral radiography for the sternum, we compared the diagnostic performance of two examinations for the evaluation of sternal fracture. Results: Thirty-two patients had sternal fractures and all the sternal fractures (sensitivity=100%) were detected on MDCT, especially on the sagittal reconstruction images. However, the axial and coronal images detected 65% and 59% of all sternal fractures, respectively. For 31 patients who underwent both MDCT and lateral radiography for the sternum, MDCT showed superior diagnostic performance compared to that of radiography (accuracy=97% and 77%, respectively, P =.02). For the one case that showed false positivity for sternal fracture on MDCT due to respiratory artifact, the lateral radiography enabled making the correct diagnosis. Conclusion: Sternal fracture is frequently seen in patients who have blunt trauma injury secondary to motor vehicle accidents. MDCT, particularly sagittal images detect all of the sternal fractures, is superior to lateral radiography for diagnosis of sternal fracture. In the limited case that CT has severe motion artifact, additional radiography could help the diagnosis of sternal fracture. [Copyright &y& Elsevier]
- Published
- 2012
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26. PROGNOSTIC VALUE OF THE RELATIVE PULMONARY PRESSURE RATIO AND ITS TRAJECTORY IN PATIENTS WITH PULMONARY ARTERIAL HYPERTENSION.
- Author
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Bagherzadeh, Shadi P, Amsallem, Myriam, Denault, Andre, Sweatt, Andrew John, Kudelko, Kristina, Sung, Yon Kyung, Haddad, Francois, and Zamanian, Roham
- Subjects
- *
PULMONARY hypertension - Published
- 2020
- Full Text
- View/download PDF
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