1.Identification of signature gene set as highly accurate determination of metabolic dysfunction-associated steatotic liver disease progression
Sumin OH ; Yang-Hyun BAEK ; Sungju JUNG ; Sumin YOON ; Byeonggeun KANG ; Su-hyang HAN ; Gaeul PARK ; Je Yeong KO ; Sang-Young HAN ; Jin-Sook JEONG ; Jin-Han CHO ; Young-Hoon ROH ; Sung-Wook LEE ; Gi-Bok CHOI ; Yong Sun LEE ; Won KIM ; Rho Hyun SEONG ; Jong Hoon PARK ; Yeon-Su LEE ; Kyung Hyun YOO
Clinical and Molecular Hepatology 2024;30(2):247-262
Background/Aims:
Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by fat accumulation in the liver. MASLD encompasses both steatosis and MASH. Since MASH can lead to cirrhosis and liver cancer, steatosis and MASH must be distinguished during patient treatment. Here, we investigate the genomes, epigenomes, and transcriptomes of MASLD patients to identify signature gene set for more accurate tracking of MASLD progression.
Methods:
Biopsy-tissue and blood samples from patients with 134 MASLD, comprising 60 steatosis and 74 MASH patients were performed omics analysis. SVM learning algorithm were used to calculate most predictive features. Linear regression was applied to find signature gene set that distinguish the stage of MASLD and to validate their application into independent cohort of MASLD.
Results:
After performing WGS, WES, WGBS, and total RNA-seq on 134 biopsy samples from confirmed MASLD patients, we provided 1,955 MASLD-associated features, out of 3,176 somatic variant callings, 58 DMRs, and 1,393 DEGs that track MASLD progression. Then, we used a SVM learning algorithm to analyze the data and select the most predictive features. Using linear regression, we identified a signature gene set capable of differentiating the various stages of MASLD and verified it in different independent cohorts of MASLD and a liver cancer cohort.
Conclusions
We identified a signature gene set (i.e., CAPG, HYAL3, WIPI1, TREM2, SPP1, and RNASE6) with strong potential as a panel of diagnostic genes of MASLD-associated disease.
2.SoUth Korean study to PrEvent cognitive impaiRment and protect BRAIN health through Multidomain interventions via facE-to-facE and video communication plaTforms in mild cognitive impairment (SUPERBRAIN-MEET): Protocol for a Multicenter Randomized Controlled Trial
Soo Hyun CHO ; Hae Jin KANG ; Yoo Kyoung PARK ; So Young MOON ; Chang Hyung HONG ; Hae Ri NA ; Hong-Sun SONG ; Muncheong CHOI ; Sooin JEONG ; Kyung Won PARK ; Hyun Sook KIM ; Buong-O CHUN ; Jiwoo JUNG ; Jee Hyang JEONG ; Seong Hye CHOI
Dementia and Neurocognitive Disorders 2024;23(1):30-43
Background:
and Purpose: The SoUth Korea study to PrEvent cognitive impaiRment and protect BRAIN health through lifestyle intervention (SUPERBRAIN) proved the feasibility of multidomain intervention for elderly people. One-quarter of the Korean population over 65 years of age has mild cognitive impairment (MCI). Digital health interventions may be costeffective and have fewer spatial constraints. We aim to examine the efficacy of a multidomain intervention through both face-to-face interactions and video communication platforms using a tablet personal computer (PC) application in MCI.
Methods:
Three hundred participants aged 60–85 years, with MCI and at least one modifiable dementia risk factor, will be recruited from 17 centers and randomly assigned in a 1:1 ratio to the multidomain intervention and the waiting-list control groups. Participants will receive the 24-week intervention through the tablet PC SUPERBRAIN application, which encompasses the following five elements: managing metabolic and vascular risk factors, cognitive training,physical exercise, nutritional guidance, and boosting motivation. Participants will attend the interventions at a facility every 1–2 weeks. They will also engage in one or two self-administered cognitive training sessions utilizing the tablet PC application at home each week. They will participate in twice or thrice weekly online exercise sessions at home via the ZOOM platform. The primary outcome will be the change in the total scale index score of the Repeatable Battery for the Assessment of Neuropsychological Status from baseline to study end.
Conclusions
This study will inform the effectiveness of a comprehensive multidomain intervention utilizing digital technologies in MCI.
3.Soluble ACE2 and TMPRSS2 Levels in the Serum of Asthmatic Patients
Ji-Hyang LEE ; Chae Eun LEE ; Youngsang YOO ; Eunyong SHIN ; Jin AN ; Seo Young PARK ; Woo-Jung SONG ; Hyouk-Soo KWON ; You Sook CHO ; Hee-Bom MOON ; Tae-Bum KIM
Journal of Korean Medical Science 2022;37(8):e65-
Background:
Angiotensin-converting enzyme 2 (ACE2) and transmembrane protease serine subtype 2 (TMPRSS2) are key proteins mediating viral entry of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although gene expressions of ACE2 and TMPRSS2 have been analyzed in various organs and diseases, their soluble forms have been less studied, particularly in asthma. Therefore, we aimed to measure circulating ACE2 and TMPRSS2 in the serum of asthmatics and examine their relationship with clinical characteristics.
Methods:
Clinical data and serum samples of 400 participants were obtained from an asthma cohort. The soluble ACE2 (sACE2) and soluble TMPRSS2 (sTMPRSS2) level was measured by enzyme-linked immunosorbent assay, and the values underwent a natural log transformation. Associations between sACE2 and TMPRSS2 levels and various clinical variables were analyzed.
Results:
The patients younger than 70 years old, those with eosinophilic asthma (eosinophils ≥ 200 cells/µL), and inhaled corticosteroids (ICS) non-users were associated with higher levels of sACE2. Blood eosinophils and fractionated exhaled nitric oxide levels were positively correlated with serum ACE2. In contrast, lower levels of sTMPRSS2 were noted in patients below 70 years and those with eosinophilic asthma, while no association was noted between ICS use and sTMPRSS2. The level of sTMPRSS2 also differed according to sex, smoking history, coexisting hypertension, and forced expiratory volume in 1 second/forced vital capacity (FEV1/FVC) ratio. The proportion of sputum neutrophils was positively correlated with sTMPRSS2, while the FEV1/FVC ratio reported a negative correlation with sTMPRSS2.
Conclusion
The levels of ACE2 and TMPRSS2 were differently expressed according to age, ICS use, and several inflammatory markers. These findings suggest variable susceptibility and prognosis of SARS-CoV-2 infection among asthmatic patients.
4.Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome
Kyo Jin JO ; Yoo Mi KIM ; Ju Young YOON ; Yeoun Joo LEE ; Young Mi HAN ; Han Wook YOO ; Hyang Sook KIM ; Chong Kun CHEON
Korean Journal of Pediatrics 2019;62(7):274-280
PURPOSE: To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations. METHODS: Twenty-three patients with prepubertal NS treated at Pusan National University Children’s Hospital between March 2009 and July 2017 were enrolled. According to the disease-causing genes identified, the patients with NS were divided into 4 groups. Three groups were positive for mutations of the PTPN11, RAF1, and SOS1 genes. The five genes undetected (FGU) group was negative for PTPN11, RAF1, SOS1, KRAS, and BRAF gene mutations. The influence of genotype was retrospectively analyzed by comparing the growth parameters after GH therapy. RESULTS: The mean chronological age at the start of GH treatment was 5.85±2.67 years. At the beginning of the GH treatment, the height standard deviation score (SDS), growth velocity (GV), and lower levels of insulin-like growth factor-1 (IGF)-1 levels were not statistically different among the groups. All the 23 NS patients had significantly increased height SDS and serum IGF-1 level during the 3 years of treatment. GV was highest during the first year of treatment. During the 3 years of GH therapy, the PTPN11, RAF1, and SOS1 groups showed less improvement in height SDS, IGF-1 SDS, and GV, and less increase in bone age-to-chronological age ratio than the FGU group. CONCLUSION: The 3-year GH therapy in the 23 prepubertal patients with NS was effective in improving height SDS, GV, and serum IGF-1 levels. The FGU group showed a better response to recombinant human GH therapy than the PTPN11, RAF1, and SOS1 groups.
Busan
;
Child
;
Genotype
;
Growth Hormone
;
Humans
;
Insulin-Like Growth Factor I
;
Noonan Syndrome
;
Retrospective Studies
5.Suggestion of Learning Objectives in Social Dental Hygiene: Oral Health Administration Area.
Su Kyung PARK ; Ga Yeong LEE ; Young Eun JANG ; Sang Hee YOO ; Yeun Ju KIM ; Sue Hyang LEE ; Han Nah KIM ; Hye Won JO ; Myoung Hee KIM ; Hee Kyoung KIM ; Da Young RYU ; Min Ji KIM ; Sun Jung SHIN ; Nam Hee KIM ; Mi Sook YOON
Journal of Dental Hygiene Science 2018;18(2):85-96
The purpose of this study is to propose learning objectives in social dental hygiene by analyzing and reviewing learning objectives in oral health administration area of the existing public oral health. This study is a cross-sectional study. The subjects of the study selected with convenience extraction were 15 members of the social dental hygiene subcommittee of the Korean Society of Dental Hygiene Science. Data collection was conducted by self-filling questionnaire. The research tool is from 48 items of A division in the book of learning objectives in the dental hygienist national examination, and this study classified each of them into ‘dental hygiene job relevance’, ‘dental hygiene competency relevance’, ‘timeliness’, and ‘value discrimination of educational goal setting’ to comprise 192 items. Also, to collect expert opinions, this study conducted Delphi survey on 7 academic experts. Statistical analysis was performed using the IBM SPSS Statistics ver. 23.0 program (IBM Co., Armonk, NY, USA). Recoding was performed according to the degree of relevance of each learning objective and frequency analysis was performed. This study removed 18 items from the whole learning objectives in the dental hygienist national examination in the oral health administration area of public oral health. Fifteen revisions were made and 15 existing learning objectives were maintained. Forty-five learning objectives were proposed as new social dental hygiene learning objectives. The topics of learning objectives are divided into social security and medical assistance, oral health care system, oral health administration, and oral health policy. As a result of this study, it was necessary to construct the learning objectives of social dental hygiene in response to changing situation at the time. The contents of education should be revised in order of revision of learning objectives, development of competency, development of learning materials, and national examination.
Cross-Sectional Studies
;
Data Collection
;
Dental Hygienists
;
Discrimination (Psychology)
;
Education
;
Expert Testimony
;
Humans
;
Hygiene
;
Learning*
;
Medical Assistance
;
Oral Health*
;
Oral Hygiene*
;
Social Security
6.The Clinicopathological and Prognostic Significance of the Gross Classification of Hepatocellular Carcinoma
Yangkyu LEE ; Hyunjin PARK ; Hyejung LEE ; Jai Young CHO ; Yoo Seok YOON ; Young Rok CHOI ; Ho Seong HAN ; Eun Sun JANG ; Jin Wook KIM ; Sook Hyang JEONG ; Soomin AHN ; Haeryoung KIM
Journal of Pathology and Translational Medicine 2018;52(2):85-92
BACKGROUND: We aimed to determine the clinicopathological significance of the gross classification of hepatocellular carcinoma (HCC) according to the Korean Liver Cancer Association (KLCA) guidelines. METHODS: A retrospective analysis was performed on 242 cases of consecutively resected solitary primary HCC between 2003 and 2012 at Seoul National University Bundang Hospital. The gross classification (vaguely nodular [VN], expanding nodular [EN], multinodular confluent [MC], nodular with perinodular extension [NP], and infiltrative [INF]) was reviewed for all cases, and were correlated with various clinicopathological features and the expression status of “stemness”-related (cytokeratin 19 [CK19], epithelial cell adhesion molecule [EpCAM]), and epithelial-mesenchymal transition (EMT)–related (urokinase plasminogen activator receptor [uPAR] and Ezrin) markers. RESULTS: Significant differences were seen in overall survival (p=.015) and disease-free survival (p = .034) according to the gross classification; INF type showed the worst prognosis while VN and EN types were more favorable. When the gross types were simplified into two groups, type 2 HCCs (MC/NP/INF) were more frequently larger and poorly differentiated, and showed more frequent microvascular and portal venous invasion, intratumoral fibrous stroma and higher pT stages compared to type 1 HCCs (EN/VN) (p < .05, all). CK19, EpCAM, uPAR, and ezrin expression was more frequently seen in type 2 HCCs (p < .05, all). Gross classification was an independent predictor of both overall and disease-free survival by multivariate analysis (overall survival: p=.030; hazard ratio, 4.118; 95% confidence interval, 1.142 to 14.844; disease-free survival: p=.016; hazard ratio, 1.617; 95% confidence interval, 1.092 to 2.394). CONCLUSIONS: The gross classification of HCC had significant prognostic value and type 2 HCCs were associated with clinicopathological features of aggressive behavior, increased expression of “stemness”- and EMT-related markers, and decreased survival.
Carcinoma, Hepatocellular
;
Classification
;
Disease-Free Survival
;
Epithelial Cells
;
Epithelial-Mesenchymal Transition
;
Liver Neoplasms
;
Multivariate Analysis
;
Plasminogen Activators
;
Prognosis
;
Retrospective Studies
;
Seoul
7.The Lateral Tarsal Strip for Paralytic Ectropion in Patients with Leprosy.
Mihn Sook JUE ; Jisook YOO ; Min Soo KIM ; Hyang Joon PARK
Annals of Dermatology 2017;29(6):742-746
BACKGROUND: In patients with leprosy, paralysis of the facial nerve results in the lower eyelid ectropion and lagophthalmos as a sequela even when the leprosy is cured. Paralytic ectropion causes many functional and cosmetic eye problems, leading to blindness if left untreated. OBJECTIVE: The purpose of this retrospective study is to evaluate the efficacy of surgical correction of paralytic ectropion, the lateral tarsal strip, in patients with leprosy. METHODS: Between 2010 and 2015, 40 Korean patients (44 eyelids) with paralytic ectropion who had visited Korean Hansen Welfare Association Hospital were treated with the lateral tarsal strip. Four-point patients' global assessment scale, local complications, and recurrence were assessed at the end of follow-up period. The average follow-up period was 12 months. RESULTS: In the 44 eyelids, recurrence was observed in 5 cases (5/44, 11.4%). There were no serious postoperative complications except mild size discrepancy of both eyes. Most patients were satisfied with the results and mean satisfaction scale was 2.6/3. CONCLUSION: The lateral tarsal strip is a simple, safe, and effective treatment method for the dermatologic surgeon to correct paralytic ectropion of mild to moderate degree in patients with leprosy.
Blindness
;
Ectropion*
;
Eyelids
;
Facial Nerve
;
Follow-Up Studies
;
Humans
;
Leprosy*
;
Methods
;
Paralysis
;
Postoperative Complications
;
Recurrence
;
Retrospective Studies
8.Eccrine Squamous Syringometaplasia Associated with Pelubiprofen Therapy.
Joon Won HUH ; Mingyul JO ; Jisook YOO ; Min Soo KIM ; Kwang Hyun CHOI ; Hyang Joon PARK ; Mihn Sook JUE
Annals of Dermatology 2017;29(3):334-336
Eccrine squamous syringometaplasia (ESS) is a histologically distinctive skin eruption occurring predominantly in acral or intertriginous areas presenting as erythematous macules, papules or patches. The etiology of ESS remains unclear, but it is usually reported in patients receiving chemotherapy for various malignant neoplasms. To date, only two cases of ESS associated with non-steroidal anti-inflammatory drugs (NSAIDs), which has distinctive clinical features and pathogenesis, have been reported in the literature. Herein, we report a rare and interesting case of ESS associated with pelubiprofen, a recently developed NSAID, which appeared after pelubiprofen therapy and resolved spontaneously after discontinuing the medication.
Dermatitis, Phototoxic
;
Drug Therapy
;
Humans
;
Metaplasia
;
Skin
9.Giant Basal Cell Carcinoma Treated with a Paramedian Forehead Flap in a Patient with Leprosy.
Jisook YOO ; Joon Won HUH ; Min Soo KIM ; Kwang Hyun CHOI ; Mihn Sook JUE ; Hyang Joon PARK
Korean Journal of Dermatology 2017;55(5):321-323
No abstract available.
Carcinoma, Basal Cell*
;
Forehead*
;
Humans
;
Leprosy*
10.Cutaneous Plasmacytoma: Metastasis of Multiple Myeloma at the Fracture Site.
Jisook YOO ; Mingyul JO ; Min Soo KIM ; Mihn Sook JUE ; Hyang Joon PARK ; Kwang Hyun CHOI
Annals of Dermatology 2017;29(4):483-486
Multiple myeloma (MM) can be defined as a malignancy with monoclonal plasma cell proliferation. A 66-year-old man presented with pruritic erythematous to purplish plaque grouped nodule with black pigmentations and purpura on the right forearm. The patient was diagnosed with MM about five years prior to the visit at our hospital. Erythematous plaque on his right arm grew rapidly in size over one month and appeared about seven months after the fracture surgery. Skin biopsy showed multiple plasma cell infiltration with monoclonality for lambda light chain, which was consistent with cutaneous plasmacytoma. The patient refused to be treated and died two months later. We herein report an interesting case of cutaneous plasmacytoma at the surgical site of fracture repair.
Aged
;
Arm
;
Biopsy
;
Forearm
;
Humans
;
Multiple Myeloma*
;
Neoplasm Metastasis*
;
Pigmentation
;
Plasma Cells
;
Plasmacytoma*
;
Purpura
;
Skin

Result Analysis
Print
Save
E-mail