1.Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing
Ja Hye KIM ; Kun Suk KIM ; Jae Hyeon HAN ; Dongsu KIM ; Chan Hoon KWAK ; Jin-Ho CHOI ; Sang Hoon SONG
Investigative and Clinical Urology 2024;65(5):487-493
Purpose:
We aimed to identify the genetic causes of hypospadias in children using targeted gene panel sequencing for disorders of sex development (DSD).
Materials and Methods:
This study included 18 twin boys with hypospadias: seven and two pairs were monozygotic and dizygotic twins, respectively, and six were discordant and three were concordant twins. Targeted gene panel sequencing for 67 known DSD genes was performed. Sequence variants were classified into five different categories, pathogenic, likely pathogenic, variants of uncertain significance, likely benign, and benign, following the American College of Medical Genetics and Genomics Standards and Guidelines.
Results:
The mean gestational age and birth weight were 35.3±2.0 weeks and 1.96±0.61 kg, respectively, with seven patients being small for gestational age. Hypospadias was present in 12 patients, with posterior type in 33.3% and anterior type in 66.7%.In three families with twins, both siblings had hypospadias. In addition, cryptorchidism was observed in one subject. Surgical correction of hypospadias was performed at a mean age of 22.1 months. Molecular analysis identified 12 different genetic variants, including two pathogenic mutations in the AMH (p.E389*) and SRD5A2 (p.R246Q) genes, found in subjects with hypospadias, respectively. However, only heterozygous mutations were detected.
Conclusions
This study did not identify a definitive genetic component contributing to the development of hypospadias; however, the findings suggest that intrauterine growth retardation may play a significant role.
2.Management strategies for congenital isolated hydronephrosis and the natural course of the disease
Jiwon JUNG ; Joo Hoon LEE ; Kun Suk KIM ; Sang Hun SONG ; Dae Hyuk MOON ; Hee Mang YOON ; Young Ah CHO ; Young Seo PARK
Childhood Kidney Diseases 2022;26(1):1-10
Congenital isolated hydronephrosis encompasses a spectrum of physiologic states that spontaneously resolve and pathologic obstruction that necessitates surgical intervention. Distinguishing patients whose condition will resolve, those who will require stringent follow-up, and those who will eventually need surgical intervention present a challenge to clinicians, particularly because no unified guidelines for assessment and follow-up have been established. The recognition of the natural course and prognosis of hydronephrosis and a comprehensive understanding of the currently proposed consensus guidelines may aid in multidisciplinary treatment and in providing proper counseling to caregivers. In this review, we aimed to summarize the literature on the grading systems and management strategies for congenital isolated hydronephrosis.
3.Comparison of Factors Associated With Direct Versus Transferred-in Admission to Government-Designated Regional Centers Between Acute Ischemic Stroke and Myocardial Infarction in Korea
Dae-Hyun KIM ; Seok-Joo MOON ; Juneyoung LEE ; Jae-Kwan CHA ; Moo Hyun KIM ; Jong-Sung PARK ; Byeolnim BAN ; Jihoon KANG ; Beom Joon KIM ; Won-Seok KIM ; Chang-Hwan YOON ; Heeyoung LEE ; Seongheon KIM ; Eun Kyoung KANG ; Ae-Young HER ; Cindy W YOON ; Joung-Ho RHA ; Seong-Ill WOO ; Won Kyung LEE ; Han-Young JUNG ; Jang Hoon LEE ; Hun Sik PARK ; Yang-Ha HWANG ; Keonyeop KIM ; Rock Bum KIM ; Nack-Cheon CHOI ; Jinyong HWANG ; Hyun-Woong PARK ; Ki Soo PARK ; SangHak YI ; Jae Young CHO ; Nam-Ho KIM ; Kang-Ho CHOI ; Juhan KIM ; Jae-Young HAN ; Jay Chol CHOI ; Song-Yi KIM ; Joon-Hyouk CHOI ; Jei KIM ; Min Kyun SOHN ; Si Wan CHOI ; Dong-Ick SHIN ; Sang Yeub LEE ; Jang-Whan BAE ; Kun Sei LEE ; Hee-Joon BAE
Journal of Korean Medical Science 2022;37(42):e305-
Background:
There has been no comparison of the determinants of admission route between acute ischemic stroke (AIS) and acute myocardial infarction (AMI). We examined whether factors associated with direct versus transferred-in admission to regional cardiocerebrovascular centers (RCVCs) differed between AIS and AMI.
Methods:
Using a nationwide RCVC registry, we identified consecutive patients presenting with AMI and AIS between July 2016 and December 2018. We explored factors associated with direct admission to RCVCs in patients with AIS and AMI and examined whether those associations differed between AIS and AMI, including interaction terms between each factor and disease type in multivariable models. To explore the influence of emergency medical service (EMS) paramedics on hospital selection, stratified analyses according to use of EMS were also performed.
Results:
Among the 17,897 and 8,927 AIS and AMI patients, 66.6% and 48.2% were directly admitted to RCVCs, respectively. Multivariable analysis showed that previous coronary heart disease, prehospital awareness, higher education level, and EMS use increased the odds of direct admission to RCVCs, but the odds ratio (OR) was different between AIS and AMI (for the first 3 factors, AMI > AIS; for EMS use, AMI < AIS). EMS use was the single most important factor for both AIS and AMI (OR, 4.72 vs. 3.90). Hypertension and hyperlipidemia increased, while living alone decreased the odds of direct admission only in AMI;additionally, age (65–74 years), previous stroke, and presentation during non-working hours increased the odds only in AIS. EMS use weakened the associations between direct admission and most factors in both AIS and AMI.
Conclusions
Various patient factors were differentially associated with direct admission to RCVCs between AIS and AMI. Public education for symptom awareness and use of EMS is essential in optimizing the transportation and hospitalization of patients with AMI and AIS.
4.The Establishment of a Fast and Safe Orthotopic Colon Cancer Model Using a Tissue Adhesive Technique
Hong-Tao HU ; Zhe WANG ; Myung Ji KIM ; Lu-Shang JIANG ; Shi-Jun XU ; Jaeyun JUNG ; Eunji LEE ; Jung-Hoon PARK ; Nader BAKHEET ; Sung Hwan YOON ; Kun Yung KIM ; Ho-Young SONG ; Suhwan CHANG
Cancer Research and Treatment 2021;53(3):733-743
Purpose:
We aimed to develop a novel method for orthotopic colon cancer model, using tissue adhesive in place of conventional surgical method.
Materials and Methods:
RFP HCT 116 cell line were used to establish the colon cancer model. Fresh tumor tissue harvested from a subcutaneous injection was grafted into twenty nude mice, divided into group A (suture method) and group B (tissue adhesive method). For the group A, we fixed the tissue on the serosa layer of proximal colon by 8-0 surgical suture. For the group B, tissue adhesive (10 μL) was used to fix the tumor. The mortality, tumor implantation success, tumor metastasis, primary tumor size, and operation time were compared between the two groups. Dissected tumor tissue was analyzed for the histology and immunohistochemistry. Also, we performed tumor marker analysis.
Results:
We observed 30% increase in graft success and 20% decrease in mortality, by using tissue adhesive method, respectively. The median colon tumor size was significantly increased by 4 mm and operation time was shortened by 6.5 minutes. The H&E showed similar tumor structure between the two groups. The immunohistochemistry staining for cancer antigen 19-9, carcinoembryonic antigen, cytokeratin 20, and Ki-67 showed comparable intensities in both groups. Real-time quantitative reverse transcription analysis showed eight out of nine tumor markers are unchanged in the tissue adhesive group. Western blot indicated the tissue adhesive group expressed less p-JNK (apototic marker) and more p-MEK/p-p38 (proliferation marker) levels.
Conclusion
We concluded the tissue adhesive method is a quick and safe way to generate orthotopic, colon cancer model.
5.2021 Clinical Practice Guidelines for Diabetes Mellitus in Korea
Kyu Yeon HUR ; Min Kyong MOON ; Jong Suk PARK ; Soo-Kyung KIM ; Seung-Hwan LEE ; Jae-Seung YUN ; Jong Ha BAEK ; Junghyun NOH ; Byung-Wan LEE ; Tae Jung OH ; Suk CHON ; Ye Seul YANG ; Jang Won SON ; Jong Han CHOI ; Kee Ho SONG ; Nam Hoon KIM ; Sang Yong KIM ; Jin Wha KIM ; Sang Youl RHEE ; You-Bin LEE ; Sang-Man JIN ; Jae Hyeon KIM ; Chong Hwa KIM ; Dae Jung KIM ; SungWan CHUN ; Eun-Jung RHEE ; Hyun Min KIM ; Hyun Jung KIM ; Donghyun JEE ; Jae Hyun KIM ; Won Seok CHOI ; Eun-Young LEE ; Kun-Ho YOON ; Seung-Hyun KO ;
Diabetes & Metabolism Journal 2021;45(4):461-481
The Committee of Clinical Practice Guidelines of the Korean Diabetes Association (KDA) updated the previous clinical practice guidelines for Korean adults with diabetes and prediabetes and published the seventh edition in May 2021. We performed a comprehensive systematic review of recent clinical trials and evidence that could be applicable in real-world practice and suitable for the Korean population. The guideline is provided for all healthcare providers including physicians, diabetes experts, and certified diabetes educators across the country who manage patients with diabetes or the individuals at the risk of developing diabetes mellitus. The recommendations for screening diabetes and glucose-lowering agents have been revised and updated. New sections for continuous glucose monitoring, insulin pump use, and non-alcoholic fatty liver disease in patients with diabetes mellitus have been added. The KDA recommends active vaccination for coronavirus disease 2019 in patients with diabetes during the pandemic. An abridgement that contains practical information for patient education and systematic management in the clinic was published separately.
6.The Establishment of a Fast and Safe Orthotopic Colon Cancer Model Using a Tissue Adhesive Technique
Hong-Tao HU ; Zhe WANG ; Myung Ji KIM ; Lu-Shang JIANG ; Shi-Jun XU ; Jaeyun JUNG ; Eunji LEE ; Jung-Hoon PARK ; Nader BAKHEET ; Sung Hwan YOON ; Kun Yung KIM ; Ho-Young SONG ; Suhwan CHANG
Cancer Research and Treatment 2021;53(3):733-743
Purpose:
We aimed to develop a novel method for orthotopic colon cancer model, using tissue adhesive in place of conventional surgical method.
Materials and Methods:
RFP HCT 116 cell line were used to establish the colon cancer model. Fresh tumor tissue harvested from a subcutaneous injection was grafted into twenty nude mice, divided into group A (suture method) and group B (tissue adhesive method). For the group A, we fixed the tissue on the serosa layer of proximal colon by 8-0 surgical suture. For the group B, tissue adhesive (10 μL) was used to fix the tumor. The mortality, tumor implantation success, tumor metastasis, primary tumor size, and operation time were compared between the two groups. Dissected tumor tissue was analyzed for the histology and immunohistochemistry. Also, we performed tumor marker analysis.
Results:
We observed 30% increase in graft success and 20% decrease in mortality, by using tissue adhesive method, respectively. The median colon tumor size was significantly increased by 4 mm and operation time was shortened by 6.5 minutes. The H&E showed similar tumor structure between the two groups. The immunohistochemistry staining for cancer antigen 19-9, carcinoembryonic antigen, cytokeratin 20, and Ki-67 showed comparable intensities in both groups. Real-time quantitative reverse transcription analysis showed eight out of nine tumor markers are unchanged in the tissue adhesive group. Western blot indicated the tissue adhesive group expressed less p-JNK (apototic marker) and more p-MEK/p-p38 (proliferation marker) levels.
Conclusion
We concluded the tissue adhesive method is a quick and safe way to generate orthotopic, colon cancer model.
7.2021 Clinical Practice Guidelines for Diabetes Mellitus in Korea
Kyu Yeon HUR ; Min Kyong MOON ; Jong Suk PARK ; Soo-Kyung KIM ; Seung-Hwan LEE ; Jae-Seung YUN ; Jong Ha BAEK ; Junghyun NOH ; Byung-Wan LEE ; Tae Jung OH ; Suk CHON ; Ye Seul YANG ; Jang Won SON ; Jong Han CHOI ; Kee Ho SONG ; Nam Hoon KIM ; Sang Yong KIM ; Jin Wha KIM ; Sang Youl RHEE ; You-Bin LEE ; Sang-Man JIN ; Jae Hyeon KIM ; Chong Hwa KIM ; Dae Jung KIM ; SungWan CHUN ; Eun-Jung RHEE ; Hyun Min KIM ; Hyun Jung KIM ; Donghyun JEE ; Jae Hyun KIM ; Won Seok CHOI ; Eun-Young LEE ; Kun-Ho YOON ; Seung-Hyun KO ;
Diabetes & Metabolism Journal 2021;45(4):461-481
The Committee of Clinical Practice Guidelines of the Korean Diabetes Association (KDA) updated the previous clinical practice guidelines for Korean adults with diabetes and prediabetes and published the seventh edition in May 2021. We performed a comprehensive systematic review of recent clinical trials and evidence that could be applicable in real-world practice and suitable for the Korean population. The guideline is provided for all healthcare providers including physicians, diabetes experts, and certified diabetes educators across the country who manage patients with diabetes or the individuals at the risk of developing diabetes mellitus. The recommendations for screening diabetes and glucose-lowering agents have been revised and updated. New sections for continuous glucose monitoring, insulin pump use, and non-alcoholic fatty liver disease in patients with diabetes mellitus have been added. The KDA recommends active vaccination for coronavirus disease 2019 in patients with diabetes during the pandemic. An abridgement that contains practical information for patient education and systematic management in the clinic was published separately.
8.S-1 Based Doublet as an Adjuvant Chemotherapy for Curatively Resected Stage III Gastric Cancer: Results from the Randomized Phase III POST Trial.
Choong kun LEE ; Minkyu JUNG ; Hyo Song KIM ; Inkyung JUNG ; Dong Bok SHIN ; Seok Yun KANG ; Dae Young ZANG ; Ki Hyang KIM ; Moon Hee LEE ; Bong Seog KIM ; Kyung Hee LEE ; Jae Ho CHEONG ; Woo Jin HYUNG ; Sung Hoon NOH ; Hyun Cheol CHUNG ; Sun Young RHA
Cancer Research and Treatment 2019;51(1):1-11
PURPOSE: We conducted a randomized, multicenter, phase III trial to compare S-1 plus docetaxel (DS) with S-1 plus cisplatin (SP) as adjuvant chemotherapy for stage III gastric cancer patients. MATERIALS AND METHODS: Stage III gastric cancer patients who had received curative gastrectomy with D2 lymphadenectomy were randomized into equal groups to receive adjuvant chemotherapy of eight cycles of DS (S-1 70 mg/m2/day on days 1-14 plus docetaxel 35 mg/m2on days 1 and 8) every 3 weeks or SP (S-1 70 mg/m2/day on days 1-14 plus cisplatin 60 mg/m2on day 1) every 3 weeks. The primary endpoint was 3-year disease-free survival (DFS) rate. RESULTS: Between November 2010 and July 2013, 153 patients (75 patients to DS and 78 patients to SP) were enrolled from 8 institutions in Korea. After the capecitabine plus oxaliplatin was approved based on the CLASSIC study, itwas decided to close the study early. With a median follow-up duration of 56.9 months, the 3-year DFS rate between two groups was not significantly different (49.14% in DS group vs. 52.5% in SP group). The most common grade 3-4 adverse event was neutropenia (42.7% in DS and 38.5% in SP, p=0.351). SP group had more grade 3-4 anemia (1.3% vs. 11.5%, p=0.037), whereas grade 3-4 hand-foot syndrome (4.1% vs. 0%, p=0.025) and mucositis (10.7% vs. 2.6%, p=0.001) were more common in DS group. Fifty-one patients (68%) in DS group and 52 (66.7%) in SP group finished planned treatment. CONCLUSION: Our findings suggest that SP or DS is an effective and tolerable option for patients with curatively resected stage III gastric cancer.
Anemia
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Capecitabine
;
Chemotherapy, Adjuvant*
;
Cisplatin
;
Disease-Free Survival
;
Follow-Up Studies
;
Gastrectomy
;
Hand-Foot Syndrome
;
Humans
;
Korea
;
Lymph Node Excision
;
Mucositis
;
Neutropenia
;
Stomach Neoplasms*
9.Prevention of Adjacent Segmental Disease after Fusion in Degenerative Spinal Disorder: Correlation between Segmental Lumbar Lordosis Ratio and Pelvic Incidence–Lumbar Lordosis Mismatch for a Minimum 5-Year Follow-up
Whoan Jeang KIM ; Chang Hyun MA ; Sang Ha KIM ; Yeon Seung MIN ; Jae Won LEE ; Shann Haw CHANG ; Kyung Hoon PARK ; Kun Young PARK ; Dae Gun SONG ; Won Sik CHOY
Asian Spine Journal 2019;13(4):654-662
STUDY DESIGN: Retrospective study. PURPOSE: Associations among risk factors related to adjacent segmental disease (ASD) remain unclear. We evaluated the risk factors and segmental lordosis ratio to prevent ASD developing after lumbar spinal fusion. OVERVIEW OF LITERATURE: Risk factors related to ASD development are age, sex, obesity, pre-existing degeneration, number of fusion segments, and decreased postoperative lumbar lordosis (LL). However, the associations among these factors are still unclear and should be clearly identified. METHODS: We retrospectively reviewed data on 274 patients who underwent lumbar spinal fusion of three segments or below for lumbar degenerative disease from January 2010 to December 2012, with over 5 years of follow-up. Patients with preoperative sagittal vertical axis (SVA) >5 cm were excluded due to sagittal imbalance. A total of 37 patients with ASD and 40 control patients (CTRL) were randomly selected in a similar distribution of matching variables: age, sex, and preoperative degenerative changes. Sex, age, number of fusion segments, radiologic measurements, L4–5–S1/L1–S1 LL ratio, and spinopelvic parameters (pelvic incidence [PI], pelvic tilt [PT], sacral slope [SS], and SVA) were analyzed. Logistic regression was used to analyze the correlation between PI–LL mismatch and L4–5–S1 segmental lordosis rate. RESULTS: No significant difference was found between ASDs and CTRL groups regarding age, sex, number of fusion segments, fusion method, and preoperative and postoperative spinopelvic parameters (PI, SS, PT, and LL). However, regarding the L4–5–S1/L1–S1 lordosis ratio, 50% (p=0.045), 60% (p=0.031), 70% (p=0.042), 80% (p=0.023), and 90% (p=0.023) were statistically significant; <20% (p=0.478), 30% (p=0.223), and 40% (p=0.089) were not statistically significant. In the postoperative PI–LL <10 group, ASD occurred less frequently than in the PI–LL >10 group, and the difference was statistically significant (p=0.048). CONCLUSIONS: Patients with a postoperative L4–5–S1/L1–S1 lordosis ratio >50% had less occurrence of ASD. Correcting LL according to PI and physiologic segmental lordosis ratio is important in preventing ASD.
Animals
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Follow-Up Studies
;
Humans
;
Incidence
;
Logistic Models
;
Lordosis
;
Methods
;
Obesity
;
Retrospective Studies
;
Risk Factors
;
Spinal Fusion
10.Baumann Skin Type in the Korean Male Population
Young Bin LEE ; Sung Ku AHN ; Gun Young AHN ; Hana BAK ; Seung Phil HONG ; Eun Jung GO ; Chang Ook PARK ; Sang Eun LEE ; Weon Ju LEE ; Hyun Chang KO ; Jee Bum LEE ; Hyung Joo KIM ; Kun PARK ; Sang Hoon LEE ; Dong Hoon SONG ; Sun Young CHOI ; Yeol Oh SUNG ; Tae Hyun KIM ; Ja Woong GOO
Annals of Dermatology 2019;31(6):621-630
BACKGROUND: Research into the Baumann skin type (BST) has recently expanded, with growing interest in the development of an efficient and effective skin type classification system for better understanding of this skin condition. OBJECTIVE: We aimed to identify male-specific skin type characteristics with investigation into the distribution of BST by age and region in the Korean male population and to determine the intrinsic and extrinsic factors related to skin type. METHODS: A questionnaire was administered to collect information about age, region, working behavior, drinking behavior, smoking behavior, usual habit of sun protection, medical history, and the BST which consisted of four parameters; oily (O) or dry (D), sensitive (S) or resistant (R), pigmented (P) or non-pigmented (N), and wrinkled (W) or tight (T). RESULTS: We surveyed 1,000 Korean males aged between 20 and 60 years who were divided equally by age and region. Of the total respondents, OSNW type accounted for the largest percentage and ORPW type the lowest. In terms of Baumann parameters, O type was 53.5%, S type was 56.1%, N type was 84.4% and W type was 57.5%. Several behavioral factors were found to have various relationships with the skin type. CONCLUSION: The predominant skin type in the Korean male respondents was OSNW type, and the distribution of skin types with regards to age and region was reported to be distinct. Therefore, skin care should be customized based on detailed skin types considering the various environmental factors.
Classification
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Drinking Behavior
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Humans
;
Male
;
Skin Care
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Skin
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Smoke
;
Smoking
;
Solar System
;
Surveys and Questionnaires

Result Analysis
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