1.A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets
Sejin KIM ; Sungsoo KIM ; Namhee KIM
Journal of Genetic Medicine 2022;19(1):27-31
X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX.Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter.The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.
2.Beta-Lactam Allergy: Real Practice in a Regional Hospital
Hyerim KIM ; Jaechun LEE ; Sejin KIM
Korean Journal of Medicine 2021;96(1):42-47
Background/Aims:
Beta-lactam (BL) antibiotics are widely prescribed for controlling bacterial infections and relevant culprits of adverse drug reactions (ADRs). BL allergy may vary according to prescription patterns within a given period of time. However, BL allergy in contemporary clinical practice has rarely been a focus of research.
Methods:
To investigate the clinical characteristics of BL allergy, subjects with ADRs to medicines, including BL antibiotics, were retrospectively reviewed.
Results:
Among the 175 enrolled subjects, BL antibiotics as culprits were confirmed in 79 (45.1%, female 53.2%, age 49 ± 14 years). Among the patients with confirmed BL allergy, only two (2.5%) were diagnosed via a prescription survey completed as part of multi-drug administration. The others were confirmed by serologic tests in 33 patients (41.8%), skin tests in 29 (36.7%), and drug provocation tests in 15 (19.0%). Regarding the symptoms and signs, onset within an hour of taking medicines was common (61 patients, 77.3%). Itchy skin was most common, followed by hives, rash, breathing difficulty, angioedema, and hypotension. Anaphylaxis occurred in 67%, and one-half (50.6%) of patients visited the emergency room. Cefaclor and amoxicillin were common BL culprits. Among others who did not have BL allergy, nonsteroidal anti-inflammatory drugs were found to be common culprits, followed by quinolones.
Conclusions
BL allergy is common among patients who experienced ADRs to medicines including BL antibiotics. For multi-drug administration, a prescription survey hardly helped in confirming BL allergy. Anaphylaxis is common in patients with BL allergy, frequently leading to emergency room visits. Cefaclor and amoxicillin are common culprits.
3.Beta-Lactam Allergy: Real Practice in a Regional Hospital
Hyerim KIM ; Jaechun LEE ; Sejin KIM
Korean Journal of Medicine 2021;96(1):42-47
Background/Aims:
Beta-lactam (BL) antibiotics are widely prescribed for controlling bacterial infections and relevant culprits of adverse drug reactions (ADRs). BL allergy may vary according to prescription patterns within a given period of time. However, BL allergy in contemporary clinical practice has rarely been a focus of research.
Methods:
To investigate the clinical characteristics of BL allergy, subjects with ADRs to medicines, including BL antibiotics, were retrospectively reviewed.
Results:
Among the 175 enrolled subjects, BL antibiotics as culprits were confirmed in 79 (45.1%, female 53.2%, age 49 ± 14 years). Among the patients with confirmed BL allergy, only two (2.5%) were diagnosed via a prescription survey completed as part of multi-drug administration. The others were confirmed by serologic tests in 33 patients (41.8%), skin tests in 29 (36.7%), and drug provocation tests in 15 (19.0%). Regarding the symptoms and signs, onset within an hour of taking medicines was common (61 patients, 77.3%). Itchy skin was most common, followed by hives, rash, breathing difficulty, angioedema, and hypotension. Anaphylaxis occurred in 67%, and one-half (50.6%) of patients visited the emergency room. Cefaclor and amoxicillin were common BL culprits. Among others who did not have BL allergy, nonsteroidal anti-inflammatory drugs were found to be common culprits, followed by quinolones.
Conclusions
BL allergy is common among patients who experienced ADRs to medicines including BL antibiotics. For multi-drug administration, a prescription survey hardly helped in confirming BL allergy. Anaphylaxis is common in patients with BL allergy, frequently leading to emergency room visits. Cefaclor and amoxicillin are common culprits.
4.Prenatal, Perinatal and Developmental Risk Factors of Attention-Deficit Hyperactivity Disorder.
Jin Young YEO ; Sejin CHOI ; Yeon Ho JOO ; Hyo Won KIM
Journal of the Korean Academy of Child and Adolescent Psychiatry 2015;26(2):112-119
OBJECTIVES: The purpose of this study was to examine the prenatal, perinatal and developmental risk factors of attention-deficit hyperactivity disorder (ADHD), compared to unaffected siblings (SIB), and typically developing children (TC). METHODS: Subjects with ADHD, their SIB, and TC were recruited from the child psychiatry outpatient clinic of the Asan Medical Center Children's Hospital. The parents of the children completed questionnaires on perinatal and developmental risk factors. RESULTS: Fifty-eight subjects with ADHD (41 boys, 7.7+/-1.3 years), 21 SIB (8 boys, 8.2+/-1.8 years), and 22 TC (8 boys, 8.5+/-2.1 years) were included. The ADHD group showed higher rates of maternal stress during pregnancy than the SIB group (p=.002), and the ADHD group showed higher rates of familial psychiatric history than the TC (odds ratio, 8.76 ; 95% confidence interval, 1.69 to 45.45). CONCLUSION: These findings suggest that among perinatal and developmental factors, maternal stress during pregnancy contribute to the development of ADHD. Future prospective studies will be needed in order to determine the causal relationship between perinatal risk factors and development of ADHD.
Ambulatory Care Facilities
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Child
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Child Psychiatry
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Chungcheongnam-do
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Humans
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Parents
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Pregnancy
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Risk Factors*
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Siblings
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Surveys and Questionnaires
5.Factors associated with Quality of Life of Parents who Lost Children in the Sewol Ferry Disaster
Soonhee YOON ; Miok KIM ; Sejin JU
Journal of Korean Academy of Psychiatric and Mental Health Nursing 2018;27(2):179-188
PURPOSE: This study aimed to (1) explore current levels of quality of life, depression, resilience and social support and (2) investigate factors associated with quality of life among parents who lost children in the Sewol ferry disaster. METHODS: Data for this descriptive and correlation study was collected from December 2016 to June 2017. Structured questionnaires were completed by 114 parents. Data were analyzed using descriptive statistics, independent t-tests, one-way ANOVA, Pearson correlation, and multivariate linear regression. RESULTS: Lower levels of quality of life were reported by parents with no current occupation, who considered emotional support by others as not helpful, not disclosing self as family of a victim, experiencing change in social activities related to the disaster, and not participating in bereavement activities with other families (all p values <.05). Factors associated with quality of life were depression (β=−.53) and resilience (β=.26) and explained 48.0% variance (F=50.37, p<.001), while social support was not a significant factor. CONCLUSION: Our study findings provide fundamental information on the mental health status of families of the Sewol ferry disaster victims. Nursing interventions to improve quality of life of parents who lost their children in the disaster should emphasize both managing depression and improving resilience.
Bereavement
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Child
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Depression
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Disaster Victims
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Disasters
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Humans
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Linear Models
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Mental Health
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Nursing
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Occupations
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Parents
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Quality of Life
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Resilience, Psychological
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Statistics as Topic
6.Students’ perceptions of the learning environment at a medical school in Korea: comparisons of the most recent 4 years’ results using the Dundee Ready Education Environment Measure (DREEM)
Kosin Medical Journal 2022;37(4):299-310
Background:
The learning environment is an essential factor influencing students’ educational processes and personal quality of life. The purpose of this study was to examine medical students’ perceptions of the learning environment at a medical school over the most recent 4 years and explore possibilities for learning environment reform and revision based on the results.
Methods:
Participating students were asked about their perceptions of the learning environment using the Dundee Ready Education Environment Measure (DREEM) questionnaire, which was distributed to first-year, third-year, and fourth-year students, representing each learning period. In total, 349 students participated in this study. Analysis of variance was conducted to determine differences in DREEM scores among years and learning periods.
Results:
There were no statistically significant differences in DREEM scores by year and learning period, except for students’ perceptions of teachers and students’ perceptions of atmosphere. However, in an analysis of differences in DREEM scores in the class of 2018 cohort by learning period, four domains of the DREEM (except for students’ academic self-perceptions) and the total DREEM score were found to be significantly different.
Conclusions
Students’ perceptions of the learning environment at Kosin University College of Medicine were relatively high. The total score increased from 2019 to 2022, except for 2021. Another significant result was that basic science students had the highest perceptions, whereas students in basic clinical science had the lowest perceptions. To improve the learning environment for medical students, continuing support for students’ emotional stability, learning motivation, physical environment, social relationships, and counseling is essential.
7.Future directions of online learning environment design at medical schools: a transition towards a post-pandemic context
Kosin Medical Journal 2023;38(1):12-20
Coronavirus disease 2019 (COVID-19) has had an extremely large impact on methods of teaching and learning, and the need for online learning has grown enormously during the COVID-19 pandemic. Because most professors and students adjusted their mode of teaching and learning to this new context, online learning seemed to be going well. The problem is that distance learning was abruptly adopted as an alternative method of classroom instruction. To increase the effectiveness of online learning, more consideration is needed to explore future directions of creating learning environments. Therefore, this study suggests seven design guidelines for designing learning environments at medical schools based on a theoretical background and experiences from the pandemic. Constructivism and situated learning theory are introduced as the theoretical background for learning environment design, and the basic principles of learning environment design with the paradigm shift to learner-centered classrooms and experiences using EdTech, including HyFlex learning, flipped learning, learning management systems, and interactive learning tools, were used to develop the design guidelines. Each design guideline is strategically matched with the basic principles: learner-centeredness, real-world tasks and contexts, problem-solving, new roles of professors as facilitators or tutors, collaboration, and new perspectives of evaluation and assessment.
8.Red meat allergy: clinical characteristics
Sejin KIM ; Jaechun LEE ; Ara KO
Allergy, Asthma & Respiratory Disease 2020;8(3):142-146
Purpose:
Red meat allergy has recently been described as rare food hypersensitivity with unique pathogenesis and clinical relevance of delayed anaphylaxis. The culprits are various mammal meats containing oligosaccharide epitope (galactose-α-1,3-galactose, α-gal). Interestingly, hard tick bites precede the onset of this allergic condition. The clinical characteristics of red meat allergy had never been reported in Korea.
Methods:
Among patients diagnosed with food hypersensitivity in a hospital located in Jeju, Korea, those with red meat allergy were recruited. Clinical characteristics were retrospectively reviewed and additionally interviewed.
Results:
Five patients (mean age, 57±4 years; 4 males and 1 female) were diagnosed as having red meat allergy. They suffered from hives, as the most common symptom, followed by shortness of breath from 10 minutes to 6 hours after exposure to the culprits. Four patients visited the emergency department for anaphylaxis. Culprits included beef, pork, dog, ham, goat, and roe deer. Chicken, duck, bacon, or horse did not cause clinical symptoms. In 4 patients, hard tick bites preceded the onset. Detection of specific IgE to α-gal and culprits such as beef and pork facilitated the confirmative diagnosis. They were advised to avoid mammal meats and to receive a prescription for self-injectable epinephrine.
Conclusion
Red meat allergy is one of the food hypersensitivities, characterized by severe and delayed allergic reactions to various meats. Red meat allergy may be a tick-borne illness in Jeju, Korea.
9.Establishing and Operating Cohort Evaluation at Kosin University College of Medicine
Korean Medical Education Review 2023;25(2):114-118
Multiple cohorts (e.g., current students and graduates) were formed to collect information on the entire educational process from admission to graduation regarding students’ educational performances at Kosin University College of Medicine. Data that had already been collected and analyzed by different committees for different purposes were grouped into a more systematic and comprehensive system called the cohort system, enabling the necessary data to be collected promptly and analyzed in accordance with the purpose of providing meaningful information in each area of the educational process. Therefore, comprehensive cohort data that can be used for mission statement revision, curriculum development and improvement, student counseling, and student selection were established and utilized. The cohort data were collected from performance evaluation indicators including self-evaluation surveys, evaluation tools for learning outcomes, academic achievement, results of the Korean Medical Licensing Examination, and career placement. Based on the results obtained by analyzing cohort data, a comprehensive cohort report has been published. The data analyzed through the cohort were reported to each committee and used in various ways. Currently, however, only some data have been analyzed and used. In the future, after complete data collection, the cohort data can be used as meaningful basic data for achieving the institution’s mission and educational goals, developing and improving the curriculum, counseling students, and selecting students through the analysis of learning performance data from student admission to graduation and after graduation.
10.Comparative Analysis of Course Satisfaction and Student Assessment Results in Redesigned Problem-Based Learning
Sejin KIM ; Minjeong KIM ; Seom Gim KONG ; Ho Joong JEONG
Korean Medical Education Review 2022;24(2):128-140
The purpose of this study was to redesign a problem-based learning (PBL) curriculum and compare the differences between the previous and redesigned PBL based on the results of course satisfaction and student assessments. The PBL was redesigned using curriculum design guidelines (including revisions of curriculum objectives, learning components, learning environments, and assessment methods) that were developed based on previous studies and evaluation results. A comparative study was employed using course satisfaction surveys from the previous and redesigned curricula, and a total of 45 students participated. We also compared student assessment results from concept mapping, learning issue reports, modified essay questions, and reflection journals. We identified four key findings. First, we explored the possibility that the redesigned PBL could be implemented by student facilitators without professors as tutors. Second, the redesigned PBL fostered group dynamics that facilitated developing communication skills and collaborative learning through small-group discussions. Third, the new learning elements added in the redesigned PBL made a meaningful contribution to enhancing students’ clinical reasoning based on hypothetico-deductive reasoning. Fourth, concept maps in redesigned PBL contained more complex and various nodes and connections, and the levels of the nodes were more appropriate. The implications of this study can provide meaningful preliminary information for redesigning PBL curricula for medical students to develop their essential competencies through PBL.