1.GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report
Joonhwan LEE ; Byungju RYU ; Yunhee KIM ; Eunyoung LEE
Journal of Yeungnam Medical Science 2025;42(1):15-
Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.
2.GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report
Joonhwan LEE ; Byungju RYU ; Yunhee KIM ; Eunyoung LEE
Journal of Yeungnam Medical Science 2025;42(1):15-
Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.
3.GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report
Joonhwan LEE ; Byungju RYU ; Yunhee KIM ; Eunyoung LEE
Journal of Yeungnam Medical Science 2025;42(1):15-
Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.
4.GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report
Joonhwan LEE ; Byungju RYU ; Yunhee KIM ; Eunyoung LEE
Journal of Yeungnam Medical Science 2025;42(1):15-
Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.
5.An Atypical Choroid Plexus Papilloma Initially Manifestating as Radicular Symptoms
Cheol-Jae LEE ; Jun-Hyung KIM ; Yunhee KIM ; Jang-Bo LEE ; Byungju RYU
Clinical Pain 2021;20(1):39-42
A 29-year-old woman had 1-month history of back pain radiating into lower extremities, motor weakness, and sensory abnormalities in both lower extremities. Contrast-enhanced spinal magnetic resonance imaging (MRI) revealed a homogeneously enhancing mass at the T12∼L1 and several intradural enhancing nodular lesions at L2∼S1. Tumor resection surgery was performed and following histological examination showed that the tumor satisfied the diagnostic criteria for atypical choroid plexus papilloma (CPP). To find primary tumor sites, contrast-enhanced brain MRI, whole spine MRI, and PET-CT were carried out and additional lesions were detected at the fourth ventricle, right cerebellum, and upper thoracic spinal cord. This is a very rare case of metastatic atypical CPP that involves brain, upper thoracic spinal cord, and cauda equina with initial manifestation of radicular symptoms without clinical signs of primary brain lesion.
6.An Atypical Choroid Plexus Papilloma Initially Manifestating as Radicular Symptoms
Cheol-Jae LEE ; Jun-Hyung KIM ; Yunhee KIM ; Jang-Bo LEE ; Byungju RYU
Clinical Pain 2021;20(1):39-42
A 29-year-old woman had 1-month history of back pain radiating into lower extremities, motor weakness, and sensory abnormalities in both lower extremities. Contrast-enhanced spinal magnetic resonance imaging (MRI) revealed a homogeneously enhancing mass at the T12∼L1 and several intradural enhancing nodular lesions at L2∼S1. Tumor resection surgery was performed and following histological examination showed that the tumor satisfied the diagnostic criteria for atypical choroid plexus papilloma (CPP). To find primary tumor sites, contrast-enhanced brain MRI, whole spine MRI, and PET-CT were carried out and additional lesions were detected at the fourth ventricle, right cerebellum, and upper thoracic spinal cord. This is a very rare case of metastatic atypical CPP that involves brain, upper thoracic spinal cord, and cauda equina with initial manifestation of radicular symptoms without clinical signs of primary brain lesion.
7.Chinese medicines reported to have effects on contact dermatitis in the last 20 years.
Youngchul JUNG ; Byungju KIM ; Mi Heon RYU ; Hyungwoo KIM
Chinese journal of integrative medicine 2018;24(1):64-71
Contact dermatitis (CD) is one of the most common skin diseases in industrialized countries. Chinese medicines (CMs) have been investigated worldwide as complementary and alternative medicines for corticosteroids, which are the first choice for treatment of inflflammatory skin diseases owing to their favorable efficacy. This article describes the CMs that have been reported to have anti-dermatitis effects against CD in the last 20 years.
8.Impact of Awareness and Educational Experiences on Cardiopulmonary Resuscitation in the Ability to Execute of Cardiopulmonary Resuscitation among Korean Adults.
Jae Kwang LEE ; Jeongwoo KIM ; Kunil KIM ; Keunhyung KIM ; Dongphil KIM ; Yuri KIM ; Seonggeun MOON ; Byungju MIN ; Hwayoung YU ; Chealim LEE ; Wonyoung JEONG ; Changhun HAN ; Inho HUH ; Jung Hee PARK ; Moo Sik LEE
Journal of Agricultural Medicine & Community Health 2018;43(4):234-249
This study was performed to identify the impact of awareness and educational experiences on cardiopulmonary resuscitation in the ability to execute of cardiopulmonary resuscitation among Korean adults. This study used original data of 2014 Community Health Data Survey. 228,712 participants in this survey were resident in South Korea who is aged 19 or older on July 2014. Participants in this survey were sampled an average of 900 residents(target error ± 3 percent) per community health center of Korea. Data were analyzed by using R 3.1.3 employing chi-squared test, fisher's exact analysis, and logistic regression analysis. Ability to execute CPR was significantly higher in males(3.34 time), higher the education level (1.61 times), the white color occupation (1.14 times), the higher the income level (1.07 times), the higher the education level (0.91 times), non-hypertensive patients (1.12 times), non-diabetic patients (1.16 times), non-dyslipidemic patients (0.86 times), non-stroke patients (0.30 times), CPR education experience group (3.25 times), CPR experience group with manikin-based training (4.30 times), higher subjective health status (1.08 times, 1.16 times) respectively. This study identified that awareness, educational experience, and mannequin-based learning experience of CPR impacted on the ability to execute CPR. Responding to education-related factors could contribute to reducing the rate of out-of-hospital acute cardiac arrest by improving the ability to execute CPR of the general public.
Adult*
;
Cardiopulmonary Resuscitation*
;
Community Health Centers
;
Diagnostic Self Evaluation
;
Education
;
Heart Arrest
;
Humans
;
Korea
;
Learning
;
Logistic Models
;
Occupations
9.The Effect of Emergency Department Expansion on the Emergency Department Length of Stay in a Tertiary Hospital.
Byungju ROH ; Kwang Yul JUNG ; Taerim KIM ; Hanzo CHOI ; Tae Gun SHIN ; Min Seob SIM ; Ik Joon JO ; Won Chul CHA
Journal of the Korean Society of Emergency Medicine 2017;28(5):502-513
PURPOSE: In this study, we aimed to measure the effects of emergency department (ED) expansion at a tertiary hospital on overall ED length of stay (LOS). METHODS: This study was a before and after study using data from a tertiary medical center in Seoul, a large metropolis. We used electronic medical records and administrative databases obtained from the ED. The control period (before expansion) was defined as from January 1 to April 31, 2016. The study period (after expansion) was defined as from May 1 to August 31, 2016. The number of ED beds increased from 42 to 74 after the expansion. After adjusting individual characteristics and institutional characteristics, multivariate regression analysis was carried out to evaluate the effects of expansion on overall ED LOS. RESULTS: A total of 45,632 patients visited the emergency medical center: 20,592 patients before and 25,040 after the expansion. Although the absolute number of patients increased, the portion of medical patients, portion of non-referral patients, and ambulatory patients decreased during the study period (all p<0.001). Average visit number increased from 170.2 (standard deviation [SD], 27.3) to 203.6 (SD, 21.3) (p<0.001). The overall ED LOS increased from 332.2 (SD, 473.4) to 391.0 minutes (SD, 649.5). After adjusting for potential confounders, we found that ED expansion was associated with an increase in ED LOS by 75.8 minutes (95% confidence interval, 63.5 to 88.2). CONCLUSION: We found that the ED expansion was associated with a significant increase in ED LOS.
Crowding
;
Electronic Health Records
;
Emergencies*
;
Emergency Medicine
;
Emergency Service, Hospital*
;
Hospital Administration
;
Humans
;
Length of Stay*
;
Overall
;
Seoul
;
Tertiary Care Centers*
10.Factors Associated with Willingness to Visit Psychiatric Clinic among General Adult Population in Bucheon City.
Byungju LEE ; Soyoung Irene LEE ; Areum LEE ; Kyeong Seon MUN ; Shin Gyeom KIM ; Jeewon LEE ; Han Yong JUNG
Journal of Korean Neuropsychiatric Association 2017;56(4):194-202
OBJECTIVES: The aim of this study was to investigate various factors associated with the willingness to visit psychiatric clinics among the general adult population in Bucheon city, South Korea. METHODS: One thousand seventy-five adults completed a self-questionnaire assessing their willingness to visit psychiatric clinics, family history of mental illnesses, frequency of contact with the mentally ill, stigma and discrimination toward the mentally ill, and the Community Attitude toward the Mentally Ill (CAMI). Logistic regression analyses were performed to identify variables associated with the willingness to visit psychiatric clinics. RESULTS: Study results showed that being single was associated with reduced willingness to visit psychiatric clinics. Subjects who had more frequent contact with mentally ill patients were more willing to visit psychiatric clinics. Concerning the CAMI scale, higher scores in authoritarianism and lower scores in benevolence subscales were associated with greater willingness to visit psychiatric clinic. Subjects who strongly admitted the existence of the stigma, and discrimination, toward mentally ill patients were more willing to visit psychiatric clinics. CONCLUSION: Enhanced understanding of the factors associated with the willingness to visit psychiatric clinics would be helpful in reducing barriers to mental health services utilization in the community.
Adult*
;
Ambulatory Care
;
Authoritarianism
;
Beneficence
;
Discrimination (Psychology)
;
Gyeonggi-do*
;
Humans
;
Korea
;
Logistic Models
;
Mental Health
;
Mental Health Services
;
Mentally Ill Persons

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