Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

An isolated avulsion fracture of the subscapularis from the lesser tuberosity of the proximal humerus is rare in the pediatric population and only a couple of cases have been described in literature. A 12-yearold right-handed boy, was admitted to the hospital with left shoulder pain after falling down the previ-ous day. Physical examination revealed tenderness on the lesser tuberosity and intertubercular groove of the humerus and a limited range of motion. Ultrasonography, computed tomography, and magnetic resonance imaging showed an isolated avulsion fracture of the subscapularis tendon from the lesser tuberosity of the humerus, accompanied by medial subluxation of the long head of the biceps tendon.In this case, a subscapularis avulsion fracture which is rare in this age group was detected at an early stage, and surgical treatment resulted in positive outcomes. Subscapularis avulsion fractures in children are difficult to diagnose in the early stages, and if not treated on time, the symptomatic improvement may be delayed. Timely and accurate diagnosis and treatment can help faster return to normal activi-ties. We would therefore like to report this case with a literature review.

Background: The efficacy and safety of equine cartilage as a competent xenograft material for rhinoplasty were evaluated and compared to the outcomes of rhinoplasty using silicone implants. Methods: We performed a multicenter, double-blind, non-inferiority, and randomized confirmatory study. Fifty-six patients were randomized 1:1 to the study group (using MegaCartilage-E) and control group (using silicone implants). The Rhinoplasty Outcome Evaluation (ROE) score, photo documentation, Global Aesthetic Improvement Scale (GAIS), and adverse event data were obtained until 12 months after surgery. The primary efficacy, which is the change in ROE score 6 months after surgery, was assessed in the modified intention-to-treat set. The secondary efficacy was evaluated in the per-protocol set by assessing the change in ROE score 6 and 12 months after surgery and nasofrontal angle, the height of the nasion, and GAIS 1, 6, and 12 months after surgery. Results: The change in ROE score of the study group was non-inferior to that of the control group; it increased by 24.26 ± 17.24 in the study group and 18.27 ± 17.60 in the control group (p = 0.213). In both groups, all secondary outcome measures increased, but there was no statistical difference. In the safety set, treatment-emergent adverse events occurred in 10 patients (35.71%) in the study group and six patients (21.43%) in the control group (p = 0.237). There were 13 adverse device events in the study group and six adverse device events in the control group (p = 0.515). Conclusion Processed equine cartilage can be used effectively and safely as xenograft material for rhinoplasty.

Background and objectives: Athlete’s heart is characterized by structural cardiac changes, including enlargement and hypertrophy. However, exercise-induced cardiac electrical remodeling is not well known in Asian athletes. We sought to evaluate the association between vigorous exercise and the development of abnormal late potential on signal-averaged electrocardiogram (SAECG).Method: We analyzed 48 Korean professional soccer players and 71 healthy sedentary controls who underwent SAECG and transthoracic echocardiography at Kyung Hee University Hospital. An SAECG was considered abnormal (positive for ventricular late potential) when any one of the three following criteria was met: filtered QRS dura‑ tion > 114 ms, root-mean-square voltage in the terminal 40 ms < 20 uV, or a voltage < 40 uV for more than 38 ms. Results: Fragmented QRS was more commonly found in athletes (1.4% vs. 10.4%). Athletes demonstrated signifi‑ cantly higher proportion of filtered QRS duration > 114 ms (7.0% vs. 22.9%, P = 0.013) and lower terminal QRS rootmean-square voltage < 20 uV (5.6% vs. 20.8%, P = 0.012). Ventricular late potential on SAECG was significantly more frequent in athletes (15.5% vs. 35.4%, P = 0.012). Regarding echocardiographic parameters, the athletes had larger cardiac chamber size; however, these differences became non-significant after adjustment for body surface area, except left ventricular mass index (65.7 ± 12.7 g/m2 vs. 84.7 ± 17.7 g/m2 , P < 0.001). Conclusion Abnormal SAECG findings were significantly more common in athletes than in controls. Further study is needed to determine the clinical impact of these abnormal SAECGs in athletes and cardiac outcomes in the long term.

Background: Fabry disease is a rare X-linked genetic lysosomal disorder caused by mutations in the GLA gene encoding alpha-galactosidase A. Despite some data showing that profibrotic and proinflammatory cytokines and oxidative stress could be involved in Fabry disease-related renal injury, the pathogenic link between metabolic derangement within cells and renal injury remains unclear. Methods: Renal fibrosis was triggered by unilateral ureteral obstruction (UUO) in mice with Fabry disease to investigate the pathogenic mechanism leading to fibrosis in diseased kidneys. Results: Compared to kidneys of wild-type mice, lamellar inclusion bodies were recognized in proximal tubules of mice with Fabry disease. Sirius red and trichrome staining revealed significantly increased fibrosis in all UUO kidneys, though it was more prominent in obstructed Fabry kidneys. Renal messenger RNA levels of inflammatory cytokines and profibrotic factors were increased in all UUO kidneys compared to sham-operated kidneys but were not significantly different between UUO control and UUO Fabry mice. Protein levels of Nox2, Nox4, NQO1, catalase, SOD1, SOD2, and Nrf2 were not significantly different between UUO control and UUO Fabry kidneys, while the protein contents of LC3-II and LC3-I and expression of Beclin1 were significantly decreased in UUO kidneys of Fabry disease mouse models compared with wild-type mice. Notably, TUNEL-positive cells were elevated in obstructed kidneys of Fabry disease mice compared to wild-type control and UUO mice. Conclusion These findings suggest that impaired autophagy and enhanced apoptosis are probable mechanisms involved in enhanced renal fibrosis under the stimulus of UUO in Fabry disease.

Background: Fabry disease is a rare X-linked genetic lysosomal disorder caused by mutations in the GLA gene encoding alpha-galactosidase A. Despite some data showing that profibrotic and proinflammatory cytokines and oxidative stress could be involved in Fabry disease-related renal injury, the pathogenic link between metabolic derangement within cells and renal injury remains unclear. Methods: Renal fibrosis was triggered by unilateral ureteral obstruction (UUO) in mice with Fabry disease to investigate the pathogenic mechanism leading to fibrosis in diseased kidneys. Results: Compared to kidneys of wild-type mice, lamellar inclusion bodies were recognized in proximal tubules of mice with Fabry disease. Sirius red and trichrome staining revealed significantly increased fibrosis in all UUO kidneys, though it was more prominent in obstructed Fabry kidneys. Renal messenger RNA levels of inflammatory cytokines and profibrotic factors were increased in all UUO kidneys compared to sham-operated kidneys but were not significantly different between UUO control and UUO Fabry mice. Protein levels of Nox2, Nox4, NQO1, catalase, SOD1, SOD2, and Nrf2 were not significantly different between UUO control and UUO Fabry kidneys, while the protein contents of LC3-II and LC3-I and expression of Beclin1 were significantly decreased in UUO kidneys of Fabry disease mouse models compared with wild-type mice. Notably, TUNEL-positive cells were elevated in obstructed kidneys of Fabry disease mice compared to wild-type control and UUO mice. Conclusion These findings suggest that impaired autophagy and enhanced apoptosis are probable mechanisms involved in enhanced renal fibrosis under the stimulus of UUO in Fabry disease.

Background and objectives: Athlete’s heart is characterized by structural cardiac changes, including enlargement and hypertrophy. However, exercise-induced cardiac electrical remodeling is not well known in Asian athletes. We sought to evaluate the association between vigorous exercise and the development of abnormal late potential on signal-averaged electrocardiogram (SAECG).Method: We analyzed 48 Korean professional soccer players and 71 healthy sedentary controls who underwent SAECG and transthoracic echocardiography at Kyung Hee University Hospital. An SAECG was considered abnormal (positive for ventricular late potential) when any one of the three following criteria was met: filtered QRS dura‑ tion > 114 ms, root-mean-square voltage in the terminal 40 ms < 20 uV, or a voltage < 40 uV for more than 38 ms. Results: Fragmented QRS was more commonly found in athletes (1.4% vs. 10.4%). Athletes demonstrated signifi‑ cantly higher proportion of filtered QRS duration > 114 ms (7.0% vs. 22.9%, P = 0.013) and lower terminal QRS rootmean-square voltage < 20 uV (5.6% vs. 20.8%, P = 0.012). Ventricular late potential on SAECG was significantly more frequent in athletes (15.5% vs. 35.4%, P = 0.012). Regarding echocardiographic parameters, the athletes had larger cardiac chamber size; however, these differences became non-significant after adjustment for body surface area, except left ventricular mass index (65.7 ± 12.7 g/m2 vs. 84.7 ± 17.7 g/m2 , P < 0.001). Conclusion Abnormal SAECG findings were significantly more common in athletes than in controls. Further study is needed to determine the clinical impact of these abnormal SAECGs in athletes and cardiac outcomes in the long term.

Purpose: This study examined the radiological and clinical outcomes of internal fixation using a reconstruction plate and 21G circumferential wire in comminuted midshaft clavicular fractures. Materials and Methods: A retrospective cohort study was performed on 51 patients between 2005 and 2019. Thirty-two patients underwent internal fixation with a reconstruction plate and a 21G circumferential wire with minimal soft tissue detachment, and 19 patients underwent surgery without a wire. The patients were assessed with the radiographic parameters, the University of California at Los Angeles (UCLA) score, and the visual analogue scale (VAS) pain score. Based on this, patients who operated without a circumferential wire were set as the control group, and the differences in bone union between the two groups were compared. Results: Thirty-two patients were followed-up for an average of 65 weeks, and 19 patients in the control group were followed-up for an average of 56 weeks. The radiological evaluation confirmed the anatomical reduction and bone union in all 32 patients. No case of nonunion was present. The UCLA score was 32.38 on average and 33.11 in the control group (p=0.395). The VAS score was 1.00 on average and 0.84 in the control group (p=0.668). A significant difference in the bony union time was observed between the group who underwent internal fixation with a reconstruction plate and a 21G circumferential wire with minimal soft tissue detachment, and the control group (p=0.015). On the other hand, there was no statistical significance when other variables were controlled (p=0.107). Conclusion For displaced midshaft clavicular fractures, internal fixation using a reconstruction plate and 21G circumferential wire maintained accurate anatomical reduction. The satisfactory clinical and radiological results mean that internal fixation using a reconstruction plate and 21G circumferential wire may be a good option for surgical treatment.