1.Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
Hyunkee KIM ; Jung Hyun LEE ; Dongju WON ; Jong Rak CHOI ; Ha Young SHIN ; Seung Hyun KIM
Journal of the Korean Neurological Association 2025;43(1):35-39
Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.
2.Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
Hyunkee KIM ; Jung Hyun LEE ; Dongju WON ; Jong Rak CHOI ; Ha Young SHIN ; Seung Hyun KIM
Journal of the Korean Neurological Association 2025;43(1):35-39
Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.
3.Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
Hyunkee KIM ; Jung Hyun LEE ; Dongju WON ; Jong Rak CHOI ; Ha Young SHIN ; Seung Hyun KIM
Journal of the Korean Neurological Association 2025;43(1):35-39
Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.
4.Radiologic Outcomes of Plantar Plate Repair through a Plantar Approach for the Dislocated Metatarsophalangeal Joint of the Lesser Toe
Chang Hyun DOH ; Sunghoo KIM ; Young-Rak CHOI ; Ho Seong LEE
Clinics in Orthopedic Surgery 2024;16(6):1001-1009
Background:
: A torn plantar plate (PP) is important pathologic anatomy related to a dislocated or subluxated metatarsophalangeal joint (MTPJ). Traditionally, a torn PP was treated with Weil osteotomy through a dorsal approach. However, because of the limited visualization of the dorsal approach, PP repair through a plantar approach has been proposed as a new technique. This study aimed to radiologically evaluate the outcome of PP repair through the plantar approach using an improved MTPJ overlap distance (MOD) on an anteroposterior view and the degree of subluxation on an oblique view. We also aimed to investigate the potential factors affecting the recurrence of MTPJ instability.
Methods:
In this study, we included 31 patients who had a subluxated or dislocated MTPJ of the second or third toe and underwent surgical PP repair. PP repair was performed via a plantar approach after shortening metatarsal (MT) osteotomy with a dorsal approach for longer MT bone. We assessed the severity of MTPJ subluxation by measuring the MOD and subluxation subtype on radiographs. Radiologic recurrence was defined as an increase in MOD or change from subluxation type A to subluxation type B.The relationship of recurrence with clinical and radiologic factors was evaluated by comparing the recurred group against the nonrecurred group.
Results:
Shortening MT osteotomy was performed in 26 of 31 cases (84%). Repeated measures analysis of variance comparing preoperation, pin removal, and the latest follow-up MOD values revealed the effectiveness of PP repair through the plantar approach (p < 0.001). The MOD did not significantly change after pin removal and the latest follow-up (p = 0.130), indicating that reduction was well maintained. None of the clinical and radiologic factors were significantly related to recurrence. However, 3 of 12 rheumatoid arthritis (RA) feet (25%) recurred and 3 of 5 recurred cases (60%) were RA feet. This result suggests that RA indicated a tendency for recurrence.
Conclusions
PP repair through the plantar approach has the advantage of excellent visualization of a torn PP and direct repair.We, therefore, recommend using the plantar approach for PP repair of the MTPJ.
5.Radiologic Outcomes of Plantar Plate Repair through a Plantar Approach for the Dislocated Metatarsophalangeal Joint of the Lesser Toe
Chang Hyun DOH ; Sunghoo KIM ; Young-Rak CHOI ; Ho Seong LEE
Clinics in Orthopedic Surgery 2024;16(6):1001-1009
Background:
: A torn plantar plate (PP) is important pathologic anatomy related to a dislocated or subluxated metatarsophalangeal joint (MTPJ). Traditionally, a torn PP was treated with Weil osteotomy through a dorsal approach. However, because of the limited visualization of the dorsal approach, PP repair through a plantar approach has been proposed as a new technique. This study aimed to radiologically evaluate the outcome of PP repair through the plantar approach using an improved MTPJ overlap distance (MOD) on an anteroposterior view and the degree of subluxation on an oblique view. We also aimed to investigate the potential factors affecting the recurrence of MTPJ instability.
Methods:
In this study, we included 31 patients who had a subluxated or dislocated MTPJ of the second or third toe and underwent surgical PP repair. PP repair was performed via a plantar approach after shortening metatarsal (MT) osteotomy with a dorsal approach for longer MT bone. We assessed the severity of MTPJ subluxation by measuring the MOD and subluxation subtype on radiographs. Radiologic recurrence was defined as an increase in MOD or change from subluxation type A to subluxation type B.The relationship of recurrence with clinical and radiologic factors was evaluated by comparing the recurred group against the nonrecurred group.
Results:
Shortening MT osteotomy was performed in 26 of 31 cases (84%). Repeated measures analysis of variance comparing preoperation, pin removal, and the latest follow-up MOD values revealed the effectiveness of PP repair through the plantar approach (p < 0.001). The MOD did not significantly change after pin removal and the latest follow-up (p = 0.130), indicating that reduction was well maintained. None of the clinical and radiologic factors were significantly related to recurrence. However, 3 of 12 rheumatoid arthritis (RA) feet (25%) recurred and 3 of 5 recurred cases (60%) were RA feet. This result suggests that RA indicated a tendency for recurrence.
Conclusions
PP repair through the plantar approach has the advantage of excellent visualization of a torn PP and direct repair.We, therefore, recommend using the plantar approach for PP repair of the MTPJ.
6.Radiologic Outcomes of Plantar Plate Repair through a Plantar Approach for the Dislocated Metatarsophalangeal Joint of the Lesser Toe
Chang Hyun DOH ; Sunghoo KIM ; Young-Rak CHOI ; Ho Seong LEE
Clinics in Orthopedic Surgery 2024;16(6):1001-1009
Background:
: A torn plantar plate (PP) is important pathologic anatomy related to a dislocated or subluxated metatarsophalangeal joint (MTPJ). Traditionally, a torn PP was treated with Weil osteotomy through a dorsal approach. However, because of the limited visualization of the dorsal approach, PP repair through a plantar approach has been proposed as a new technique. This study aimed to radiologically evaluate the outcome of PP repair through the plantar approach using an improved MTPJ overlap distance (MOD) on an anteroposterior view and the degree of subluxation on an oblique view. We also aimed to investigate the potential factors affecting the recurrence of MTPJ instability.
Methods:
In this study, we included 31 patients who had a subluxated or dislocated MTPJ of the second or third toe and underwent surgical PP repair. PP repair was performed via a plantar approach after shortening metatarsal (MT) osteotomy with a dorsal approach for longer MT bone. We assessed the severity of MTPJ subluxation by measuring the MOD and subluxation subtype on radiographs. Radiologic recurrence was defined as an increase in MOD or change from subluxation type A to subluxation type B.The relationship of recurrence with clinical and radiologic factors was evaluated by comparing the recurred group against the nonrecurred group.
Results:
Shortening MT osteotomy was performed in 26 of 31 cases (84%). Repeated measures analysis of variance comparing preoperation, pin removal, and the latest follow-up MOD values revealed the effectiveness of PP repair through the plantar approach (p < 0.001). The MOD did not significantly change after pin removal and the latest follow-up (p = 0.130), indicating that reduction was well maintained. None of the clinical and radiologic factors were significantly related to recurrence. However, 3 of 12 rheumatoid arthritis (RA) feet (25%) recurred and 3 of 5 recurred cases (60%) were RA feet. This result suggests that RA indicated a tendency for recurrence.
Conclusions
PP repair through the plantar approach has the advantage of excellent visualization of a torn PP and direct repair.We, therefore, recommend using the plantar approach for PP repair of the MTPJ.
7.Radiologic Outcomes of Plantar Plate Repair through a Plantar Approach for the Dislocated Metatarsophalangeal Joint of the Lesser Toe
Chang Hyun DOH ; Sunghoo KIM ; Young-Rak CHOI ; Ho Seong LEE
Clinics in Orthopedic Surgery 2024;16(6):1001-1009
Background:
: A torn plantar plate (PP) is important pathologic anatomy related to a dislocated or subluxated metatarsophalangeal joint (MTPJ). Traditionally, a torn PP was treated with Weil osteotomy through a dorsal approach. However, because of the limited visualization of the dorsal approach, PP repair through a plantar approach has been proposed as a new technique. This study aimed to radiologically evaluate the outcome of PP repair through the plantar approach using an improved MTPJ overlap distance (MOD) on an anteroposterior view and the degree of subluxation on an oblique view. We also aimed to investigate the potential factors affecting the recurrence of MTPJ instability.
Methods:
In this study, we included 31 patients who had a subluxated or dislocated MTPJ of the second or third toe and underwent surgical PP repair. PP repair was performed via a plantar approach after shortening metatarsal (MT) osteotomy with a dorsal approach for longer MT bone. We assessed the severity of MTPJ subluxation by measuring the MOD and subluxation subtype on radiographs. Radiologic recurrence was defined as an increase in MOD or change from subluxation type A to subluxation type B.The relationship of recurrence with clinical and radiologic factors was evaluated by comparing the recurred group against the nonrecurred group.
Results:
Shortening MT osteotomy was performed in 26 of 31 cases (84%). Repeated measures analysis of variance comparing preoperation, pin removal, and the latest follow-up MOD values revealed the effectiveness of PP repair through the plantar approach (p < 0.001). The MOD did not significantly change after pin removal and the latest follow-up (p = 0.130), indicating that reduction was well maintained. None of the clinical and radiologic factors were significantly related to recurrence. However, 3 of 12 rheumatoid arthritis (RA) feet (25%) recurred and 3 of 5 recurred cases (60%) were RA feet. This result suggests that RA indicated a tendency for recurrence.
Conclusions
PP repair through the plantar approach has the advantage of excellent visualization of a torn PP and direct repair.We, therefore, recommend using the plantar approach for PP repair of the MTPJ.
8.Personality and Learning Behavioral Characteristics as Predictors of Academic Achievement of Medical Students
Jang-Rak KIM ; Young-A JI ; Mi-Ji KIM ; Jong Ryeal HAHM
Korean Medical Education Review 2024;26(1):70-76
This study investigates whether personality characteristics and learning behaviors can predict medical students’ academic achievement in Korea, specifically in terms of successfully completing medical school without delays or achieving a high grade point average (GPA) in their final year. In May 2018, 316 medical students took the Multi-Dimensional Learning Strategy Test, 2nd edition, which provided data on their personality and learning behavioral characteristics. Their final year’s GPA and any delays in completing medical school were ascertained by reviewing all electronic academic records of each semester they had been enrolled. The combination of personality and learning behavioral characteristics was significantly associated with completing medical school without delays, even after adjusting for sex and admission path. A multiple logistic regression analysis showed that the adjusted odds ratios and 95% confidence intervals for completing medical school without delays were 1.52 (95% confidence interval [CI], 0.83–2.78) and 3.64 (95% CI, 1.70–7.82) for “others” and “both high” categories, respectively, when compared with the “both low” category. For 235 students who completed medical school without delays, their learning behavioral characteristics (scores) were significantly associated with their final year’s GPA even after adjusting for sex, admission path, and personality characteristics (scores) as determined by the multiple linear regression analysis. This study suggests that individual personality and learning behavior characteristics are predictors of medical students’ academic achievement. Therefore, interventions such as personalized counseling programs should be provided in consideration of such student characteristics.
9.Reaching New Heights: A Comprehensive Study of Hand Transplantations in Korea after Institutionalization of Hand Transplantation Law
Yo Han KIM ; Yun Rak CHOI ; Dong Jin JOO ; Woo Yeol BAEK ; Young Chul SUH ; Won Taek OH ; Jae Yong CHO ; Sang Chul LEE ; Sang Kyum KIM ; Hyang Joo RYU ; Kyung Ock JEON ; Won Jai LEE ; Jong Won HONG
Yonsei Medical Journal 2024;65(2):108-119
Purpose:
With the revision of the Organ and Transplantation Act in 2018, the hand has become legal as an area of transplantable organs in Korea. In January 2021, the first hand allotransplantation since legalization was successfully performed, and we have performed a total of three successful hand transplantation since then. By comparing and incorporating our experiences, this study aimed to provide a comprehensive reconstructive solution for hand amputation in Korea.
Materials and Methods:
Recipients were selected through a structured preoperative evaluation, and hand transplantations were performed at the distal forearm level. Postoperatively, patients were treated with three-drug immunosuppressive regimen, and functional outcomes were monitored.
Results:
The hand transplantations were performed without intraoperative complications. All patients had partial skin necrosis and underwent additional surgical procedures in 2 months after transplantation. After additional operations, no further severe complications were observed. Also, patients developed acute rejection within 3 months of surgery, but all resolved within 2 weeks after steroid pulse therapy. Motor and sensory function improved dramatically, and patients were very satisfied with the appearance and function of their transplanted hands.
Conclusion
Hand transplantation is a viable reconstructive option, and patients have shown positive functional and psychological outcomes. Although this study has limitations, such as the small number of patients and short follow-up period, we should focus on continued recovery of hand function, and be careful not to develop side effects from immunosuppressive drugs. Through the present study, we will continue to strive for a bright future regarding hand transplantation in Korea.
10.Prediction of the 10-year risk of atherosclerotic cardiovascular disease in the Korean population
Sangwoo PARK ; Yong-Giun KIM ; Soe Hee ANN ; Young-Rak CHO ; Shin-Jae KIM ; Seungbong HAN ; Gyung-Min PARK
Epidemiology and Health 2023;45(1):e2023052-
OBJECTIVES:
Proper risk assessment is important for the primary prevention of atherosclerotic cardiovascular disease (ASCVD). However, no validated risk prediction tools are currently in use in Korea. This study sought to develop a 10-year risk prediction model for incident ASCVD.
METHODS:
Using the National Sample Cohort of Korea, 325,934 subjects aged 20-80 years without previous ASCVD were enrolled. ASCVD was defined as a composite of cardiovascular death, myocardial infarction, and stroke. The Korean atherosclerotic cardiovas cular disease risk prediction (K-CVD) model was developed separately for men and women using the development dataset and validated in the validation dataset. Furthermore, the model performance was compared with the Framingham risk score (FRS) and pooled cohort equation (PCE).
RESULTS:
Over 10 years of follow-up, 4,367 ASCVD events occurred in the overall population. The predictors of ASCVD included in the model were age, smoking status, diabetes, systolic blood pressure, lipid profiles, urine protein, and lipid-lowering and blood pressure-lowering treatment. The K-CVD model had good discrimination and strong calibration in the validation dataset (time-dependent area under the curve=0.846; 95% confidence interval, 0.828 to 0.864; calibration χ2=4.73, goodness-of-fit p=0.32). Compared with our model, both FRS and PCE showed worse calibration, overestimating ASCVD risk in the Korean population.
CONCLUSIONS
Through a nationwide cohort, we developed a model for 10-year ASCVD risk prediction in a contemporary Korean population. The K-CVD model showed excellent discrimination and calibration in Koreans. This population-based risk prediction tool would help to appropriately identify high-risk individuals and provide preventive interventions in the Korean population.

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