1.Digital Phenotyping of Rare Endocrine Diseases Across International Data Networks and the Effect of Granularity of Original Vocabulary
Seunghyun LEE ; Namki HONG ; Gyu Seop KIM ; Jing LI ; Xiaoyu LIN ; Sarah SEAGER ; Sungjae SHIN ; Kyoung Jin KIM ; Jae Hyun BAE ; Seng Chan YOU ; Yumie RHEE ; Sin Gon KIM
Yonsei Medical Journal 2025;66(3):187-194
Purpose:
Rare diseases occur in <50 per 100000 people and require lifelong management. However, essential epidemiological data on such diseases are lacking, and a consecutive monitoring system across time and regions remains to be established. Standardized digital phenotypes are required to leverage an international data network for research on rare endocrine diseases. We developed digital phenotypes for rare endocrine diseases using the observational medical outcome partnership common data model.
Materials and Methods:
Digital phenotypes of three rare endocrine diseases (medullary thyroid cancer, hypoparathyroidism, pheochromocytoma/paraganglioma) were validated across three databases that use different vocabularies: Severance Hospital’s electronic health record from South Korea; IQVIA’s United Kingdom (UK) database for general practitioners; and IQVIA’s United States (US) hospital database for general hospitals. We estimated the performance of different digital phenotyping methods based on International Classification of Diseases (ICD)-10 in the UK and the US or systematized nomenclature of medicine clinical terms (SNOMED CT) in Korea.
Results:
The positive predictive value of digital phenotyping was higher using SNOMED CT-based phenotyping than ICD-10-based phenotyping for all three diseases in Korea (e.g., pheochromocytoma/paraganglioma: ICD-10, 58%–62%; SNOMED CT, 89%). Estimated incidence rates by digital phenotyping were as follows: medullary thyroid cancer, 0.34–2.07 (Korea), 0.13–0.30 (US); hypoparathyroidism, 0.40–1.20 (Korea), 0.59–1.01 (US), 0.00–1.78 (UK); and pheochromocytoma/paraganglioma, 0.95–1.67 (Korea), 0.35–0.77 (US), 0.00–0.49 (UK).
Conclusion
Our findings demonstrate the feasibility of developing digital phenotyping of rare endocrine diseases and highlight the importance of implementing SNOMED CT in routine clinical practice to provide granularity for research.
2.Effect of Occlusal and Margin Design on the Fracture Load of Zirconia-Lithium Disilicate Bi-layered Posterior Crowns: An in Vitro Study
Sung-Hoon KIM ; Kyung-Ho KO ; Chan-Jin PARK ; Lee-Ra CHO ; Yoon-Hyuk HUH
Journal of Korean Dental Science 2025;18(1):1-11
Purpose:
The opacity of zirconia sometimes requires a veneering material; thus lithium disilicate, a veneer material with excellent strength, can be used. This study investigated the fracture resistance of zirconia–lithium disilicate (Zr-LS2) bi-layered crowns according to the design of the substructure.
Materials and Methods:
Five groups of posterior Zr-LS2 restorations (Zirtooth and Amber LiSi-POZ) were fabricated with different zirconia substructure coverage (control group, groups half occlusal zirconia coverage; 1/2OZ, and three-quarter occlusal zirconia coverage; 3/4OZ) and margin designs (control group, groups collar margin; C-M, and collarless margin; Cl-M). All restorations were cemented with self-adhesive resin cement followed by 24-h water storage and thermocycling (10,000 cycles, 5°C and 55°C). The fracture load was measured, and failure mode analysis, fractography, and elemental analysis were performed. The one-way analysis of variance and Fisher’s exact test were performed for statistical analyses (α=.05).
Results:
A significant difference was found in the fracture load of Zr-LS2 restorations according to the zirconia coverage of the occlusal area and margin design (P<.05). Group 3/4OZ was significantly larger than the control group C and 1/2OZ (P<.05). The C-M group had greater fracture loads based on margin design than the control group C and Cl-M (P<.05).
Conclusion
The fracture resistance of posterior Zr-LS2 restorations increased with the zirconia coverage, occlusal thickness, and collar margin.
3.Delayed Diagnosis of Imported Cystic Echinococcosis and Successful Treatment With Percutaneous Drainage and Albendazole in Korea: A Case Report
Won Jun CHOI ; Hanna JIN ; Hyeon Jae JO ; Chan Mi LEE ; Chang Kyung KANG ; Pyoeng Gyun CHOE ; Wan Beom PARK ; Nam Joong KIM ; Min-Ho CHOI
Journal of Korean Medical Science 2025;40(4):e88-
Echinococcosis, caused by the tapeworm Echinococcus, is rare in Korea and is primarily imported from endemic areas. We report a case of a 37-year-old Korean man with multiple large hepatic cysts, initially diagnosed as simple cysts at a local clinic in 2018. The patient had lived in Oman, an endemic area, for several months in 2016. Upon referral to a tertiary hospital in 2023, due to progressive cyst enlargement, liver magnetic resonance imaging revealed three large cysts with a water lily sign. Serum IgG against Echinococcus was positive by enzyme-linked immunosorbent assay. After diagnosis of echinococcosis, treatment with albendazole and puncture-aspiration-injection-reaspiration (PAIR) was performed.Microscopic and molecular analysis of cyst aspirates confirmed Echinococcus granulosus infection. Follow-up computed tomography demonstrated a reduction in cyst size, yet the emergence of a new right pleural effusion and consolidation in the left lower lobe of the lung necessitated the continuation of albendazole therapy. This case highlights the importance of thorough travel history, imaging findings, and the effectiveness of PAIR combined with albendazole in treating imported echinococcosis.
4.Prognostic Value of Ambulatory Status at Transplant in Older Heart Transplant Recipients: Implications for Organ Allocation Policy
Junho HYUN ; Jong-Chan YOUN ; Jung Ae HONG ; Darae KIM ; Jae-Joong KIM ; Myoung Soo KIM ; Jaewon OH ; Jin-Jin KIM ; Mi-Hyang JUNG ; In-Cheol KIM ; Sang-Eun LEE ; Jin Joo PARK ; Min-Seok KIM ; Sung-Ho JUNG ; Hyun-Jai CHO ; Hae-Young LEE ; Seok-Min KANG ; Dong-Ju CHOI ; Jon A. KOBASHIGAWA ; Josef STEHLIK ; Jin-Oh CHOI
Journal of Korean Medical Science 2025;40(3):e14-
Background:
Shortage of organ donors in the Republic of Korea has become a major problem. To address this, it has been questioned whether heart transplant (HTx) allocation should be modified to reduce priority of older patients. We aimed to evaluate post-HTx outcomes according to recipient age and specific pre-HTx conditions using a nationwide prospective cohort.
Methods:
We analyzed clinical characteristics of 628 patients from the Korean Organ Transplant Registry who received HTx from January 2015 to December 2020. Enrolled recipients were divided into three groups according to age. We also included comorbidities including ambulatory status. Non-ambulatory status was defined as pre-HTx support with either extracorporeal membrane oxygenation, continuous renal replacement therapy, or mechanical ventilation.
Results:
Of the 628 patients, 195 were < 50 years, 322 were 50–64 years and 111 were ≥ 65years at transplant. Four hundred nine (65.1%) were ambulatory and 219 (34.9%) were nonambulatory. Older recipients tended to have more comorbidities, ischemic cardiomyopathy, and received older donors. Post-HTx survival was significantly lower in older recipients (P = 0.025) and recipients with non-ambulatory status (P < 0.001). However, in contrast to non-ambulatory recipients who showed significant survival differences according to the recipient’s age (P = 0.004), ambulatory recipients showed comparable outcomes (P = 0.465).
Conclusion
Our results do not support use of age alone as an allocation criterion. Transplant candidate age in combination with some comorbidities such as non-ambulatory status may identify patients at a sufficiently elevated risk at which suitability of HTx should be reconsidered.
5.Psychotropic Drug Use in Korean Patients With Osteoarthritis
Seong-Hun KANG ; Hyun Ah KIM ; Insun CHOI ; Chan Mi PARK ; Hoyol JHANG ; Jinhyun KIM ; Dong Jin GO ; Suhyun JANG
Journal of Korean Medical Science 2025;40(12):e53-
Background:
There are few safe effective ways to relieve osteoarthritis (OA) pain; as a result, off-label psychotropic drug prescriptions have increased worldwide. This study examined the change in psychotropic drug prescriptions for patients with OA from 2011 to 2020 using the Korean National Health Insurance Service dataset.
Methods:
The study population consisted of patients with hip or knee OA aged ≥ 65 years.Psychotropic drugs included opioids, benzodiazepines, non-benzodiazepine hypnotics (Z-drugs), anti-epileptics, tricyclic antidepressants, selective serotonin reuptake inhibitors (SSRIs), serotonin and norepinephrine reuptake inhibitors (SNRIs), typical antipsychotics, atypical antipsychotics, and anxiolytics. The prevalence and long-term (> 3 months) prescription rates of psychotropic drugs in OA patients were calculated.
Results:
The study included 1,821,158 patients with OA (mean age 71.7 years; 65.32% female).Of the cohort, 49% had comorbidities for which psychotropics were indicated. The prevalence of psychotropic prescriptions decreased from 58.2% to 52.0% in 2018 and then leveled off.The long-term prescription rate remained constant until 2018 and then increased slightly.The most commonly prescribed psychotropics were opioids and long- and short-acting benzodiazepines. The prescription rates of opioids and long-acting benzodiazepines decreased from 2011 to 2020. For those with psychiatric co-morbidities, the prescription rates of anti-epileptics and SNRIs increased, while the prescription rates of anti-epileptics, SSRIs, other antidepressants, and atypical psychotropics increased for those without such co-morbidities. The most commonly prescribed psychotropics were diazepam and alprazolam, excluding tramadol and tramadol–acetaminophen combination. For those with psychiatric co-morbidities, the prescription rates of gabapentin and fentanyl increased, while for those without such co-morbidities, the prescription rates of lorazepam, fentanyl, escitalopram and quetiapine increased.
Conclusion
A significant number of older Korean patients with OA were prescribed psychotropic drugs in the absence of comorbidities requiring such drugs, including drugs that have little effect on OA and unfavorable safety profiles in older adults.
6.Consensus Statements on Tinnitus Treatment: A Delphi Study by the Korean Tinnitus Study Group
Junhui JEONG ; Ho Yun LEE ; Oak-Sung CHOO ; Hantai KIM ; Kyu-Yup LEE ; Jae-Jin SONG ; Jae-Hyun SEO ; Yoon Chan RAH ; Jae-Jun SONG ; Eui-Cheol NAM ; Shi Nae PARK ; In Seok MOON ; Hyun Joon SHIM
Journal of Korean Medical Science 2025;40(18):e75-
Background:
Tinnitus is a bothersome condition associated with various mechanisms of action. Although treatment methods vary according to these mechanisms, standardized guidelines would benefit both patients and clinicians. We conducted a Delphi study, a method that collects expert opinions through multiple rounds of questionnaires, to reach a consensus on tinnitus treatment with professional experts.
Methods:
A two-round modified Delphi survey was conducted to develop a clinical consensus on tinnitus treatment. The experts scored each statement on a scale of 1 (highest disagreement) to 9 (highest agreement) for their level of agreement on tinnitus treatment.Consensus was defined when 75% or more of the participants scored 7–9, and 15% or less scored 1–3. To ensure reliability of the responses, the content validity ratio and Kendall’s coefficient of concordance were evaluated.
Results:
Approximately 19 of 31 statements reached a consensus. All 3 statements reached a consensus regarding the candidates for treatment. Regarding treatment, 3 of 8 statements on medication, 2 of 2 statements on tinnitus retraining therapy/cognitive behavioral therapy, and 5 of 7 statements on auditory rehabilitation reached a positive consensus. Although all 6 statements regarding miscellaneous treatment reached a consensus, most were negatively agreed. For treatment with neuromodulation, none of the 5 statements reached a consensus.
Conclusion
The experts reached a high level of consensus on treatment candidates, tinnitus retraining therapy/cognitive behavioral therapy, and auditory rehabilitation in this modified Delphi study. The results of this study can provide beneficial and practical information for clinicians regarding the treatment of tinnitus.
7.Effect of Occlusal and Margin Design on the Fracture Load of Zirconia-Lithium Disilicate Bi-layered Posterior Crowns: An in Vitro Study
Sung-Hoon KIM ; Kyung-Ho KO ; Chan-Jin PARK ; Lee-Ra CHO ; Yoon-Hyuk HUH
Journal of Korean Dental Science 2025;18(1):1-11
Purpose:
The opacity of zirconia sometimes requires a veneering material; thus lithium disilicate, a veneer material with excellent strength, can be used. This study investigated the fracture resistance of zirconia–lithium disilicate (Zr-LS2) bi-layered crowns according to the design of the substructure.
Materials and Methods:
Five groups of posterior Zr-LS2 restorations (Zirtooth and Amber LiSi-POZ) were fabricated with different zirconia substructure coverage (control group, groups half occlusal zirconia coverage; 1/2OZ, and three-quarter occlusal zirconia coverage; 3/4OZ) and margin designs (control group, groups collar margin; C-M, and collarless margin; Cl-M). All restorations were cemented with self-adhesive resin cement followed by 24-h water storage and thermocycling (10,000 cycles, 5°C and 55°C). The fracture load was measured, and failure mode analysis, fractography, and elemental analysis were performed. The one-way analysis of variance and Fisher’s exact test were performed for statistical analyses (α=.05).
Results:
A significant difference was found in the fracture load of Zr-LS2 restorations according to the zirconia coverage of the occlusal area and margin design (P<.05). Group 3/4OZ was significantly larger than the control group C and 1/2OZ (P<.05). The C-M group had greater fracture loads based on margin design than the control group C and Cl-M (P<.05).
Conclusion
The fracture resistance of posterior Zr-LS2 restorations increased with the zirconia coverage, occlusal thickness, and collar margin.
8.Delayed Diagnosis of Imported Cystic Echinococcosis and Successful Treatment With Percutaneous Drainage and Albendazole in Korea: A Case Report
Won Jun CHOI ; Hanna JIN ; Hyeon Jae JO ; Chan Mi LEE ; Chang Kyung KANG ; Pyoeng Gyun CHOE ; Wan Beom PARK ; Nam Joong KIM ; Min-Ho CHOI
Journal of Korean Medical Science 2025;40(4):e88-
Echinococcosis, caused by the tapeworm Echinococcus, is rare in Korea and is primarily imported from endemic areas. We report a case of a 37-year-old Korean man with multiple large hepatic cysts, initially diagnosed as simple cysts at a local clinic in 2018. The patient had lived in Oman, an endemic area, for several months in 2016. Upon referral to a tertiary hospital in 2023, due to progressive cyst enlargement, liver magnetic resonance imaging revealed three large cysts with a water lily sign. Serum IgG against Echinococcus was positive by enzyme-linked immunosorbent assay. After diagnosis of echinococcosis, treatment with albendazole and puncture-aspiration-injection-reaspiration (PAIR) was performed.Microscopic and molecular analysis of cyst aspirates confirmed Echinococcus granulosus infection. Follow-up computed tomography demonstrated a reduction in cyst size, yet the emergence of a new right pleural effusion and consolidation in the left lower lobe of the lung necessitated the continuation of albendazole therapy. This case highlights the importance of thorough travel history, imaging findings, and the effectiveness of PAIR combined with albendazole in treating imported echinococcosis.
9.Prognostic Value of Ambulatory Status at Transplant in Older Heart Transplant Recipients: Implications for Organ Allocation Policy
Junho HYUN ; Jong-Chan YOUN ; Jung Ae HONG ; Darae KIM ; Jae-Joong KIM ; Myoung Soo KIM ; Jaewon OH ; Jin-Jin KIM ; Mi-Hyang JUNG ; In-Cheol KIM ; Sang-Eun LEE ; Jin Joo PARK ; Min-Seok KIM ; Sung-Ho JUNG ; Hyun-Jai CHO ; Hae-Young LEE ; Seok-Min KANG ; Dong-Ju CHOI ; Jon A. KOBASHIGAWA ; Josef STEHLIK ; Jin-Oh CHOI
Journal of Korean Medical Science 2025;40(3):e14-
Background:
Shortage of organ donors in the Republic of Korea has become a major problem. To address this, it has been questioned whether heart transplant (HTx) allocation should be modified to reduce priority of older patients. We aimed to evaluate post-HTx outcomes according to recipient age and specific pre-HTx conditions using a nationwide prospective cohort.
Methods:
We analyzed clinical characteristics of 628 patients from the Korean Organ Transplant Registry who received HTx from January 2015 to December 2020. Enrolled recipients were divided into three groups according to age. We also included comorbidities including ambulatory status. Non-ambulatory status was defined as pre-HTx support with either extracorporeal membrane oxygenation, continuous renal replacement therapy, or mechanical ventilation.
Results:
Of the 628 patients, 195 were < 50 years, 322 were 50–64 years and 111 were ≥ 65years at transplant. Four hundred nine (65.1%) were ambulatory and 219 (34.9%) were nonambulatory. Older recipients tended to have more comorbidities, ischemic cardiomyopathy, and received older donors. Post-HTx survival was significantly lower in older recipients (P = 0.025) and recipients with non-ambulatory status (P < 0.001). However, in contrast to non-ambulatory recipients who showed significant survival differences according to the recipient’s age (P = 0.004), ambulatory recipients showed comparable outcomes (P = 0.465).
Conclusion
Our results do not support use of age alone as an allocation criterion. Transplant candidate age in combination with some comorbidities such as non-ambulatory status may identify patients at a sufficiently elevated risk at which suitability of HTx should be reconsidered.
10.Psychotropic Drug Use in Korean Patients With Osteoarthritis
Seong-Hun KANG ; Hyun Ah KIM ; Insun CHOI ; Chan Mi PARK ; Hoyol JHANG ; Jinhyun KIM ; Dong Jin GO ; Suhyun JANG
Journal of Korean Medical Science 2025;40(12):e53-
Background:
There are few safe effective ways to relieve osteoarthritis (OA) pain; as a result, off-label psychotropic drug prescriptions have increased worldwide. This study examined the change in psychotropic drug prescriptions for patients with OA from 2011 to 2020 using the Korean National Health Insurance Service dataset.
Methods:
The study population consisted of patients with hip or knee OA aged ≥ 65 years.Psychotropic drugs included opioids, benzodiazepines, non-benzodiazepine hypnotics (Z-drugs), anti-epileptics, tricyclic antidepressants, selective serotonin reuptake inhibitors (SSRIs), serotonin and norepinephrine reuptake inhibitors (SNRIs), typical antipsychotics, atypical antipsychotics, and anxiolytics. The prevalence and long-term (> 3 months) prescription rates of psychotropic drugs in OA patients were calculated.
Results:
The study included 1,821,158 patients with OA (mean age 71.7 years; 65.32% female).Of the cohort, 49% had comorbidities for which psychotropics were indicated. The prevalence of psychotropic prescriptions decreased from 58.2% to 52.0% in 2018 and then leveled off.The long-term prescription rate remained constant until 2018 and then increased slightly.The most commonly prescribed psychotropics were opioids and long- and short-acting benzodiazepines. The prescription rates of opioids and long-acting benzodiazepines decreased from 2011 to 2020. For those with psychiatric co-morbidities, the prescription rates of anti-epileptics and SNRIs increased, while the prescription rates of anti-epileptics, SSRIs, other antidepressants, and atypical psychotropics increased for those without such co-morbidities. The most commonly prescribed psychotropics were diazepam and alprazolam, excluding tramadol and tramadol–acetaminophen combination. For those with psychiatric co-morbidities, the prescription rates of gabapentin and fentanyl increased, while for those without such co-morbidities, the prescription rates of lorazepam, fentanyl, escitalopram and quetiapine increased.
Conclusion
A significant number of older Korean patients with OA were prescribed psychotropic drugs in the absence of comorbidities requiring such drugs, including drugs that have little effect on OA and unfavorable safety profiles in older adults.

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