Background: Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies. The genetic landscape of RP has been characterized; however, knowledge gaps regarding age-specific genetic variation trends in Korean patients remain. We comprehensively characterized the age-stratified genetic landscape of RP in Korean patients, with a focus on identifying novel mutational trends and clinically actionable insights. Methods: We performed targeted next-generation sequencing of 199 genes associated with RP and related disorders in a cohort of 403 unrelated patients clinically diagnosed as having RP. We analyzed the inheritance patterns, variation spectrum, and prevalence of pathogenic variants, stratifying the results by age, and conducted copy number variation (CNV) analysis. Results: A genetic diagnosis was achieved for 193 of the 403 patients (48%). The diagnostic yield was highest in patients diagnosed before 20 yrs of age (60%), with lower yields in older age groups. Although USH2A and EYS, the most common causative genes in autosomal recessive inheritance, were frequently identified, RPGR pathogenic variants accounted for a significantly larger proportion of genetically solved cases diagnosed before the age of 20 yrs (27%–28%) than in those with later-onset disease (9%–15%). CNVs were identified in 4% of genetically solved cases. Conclusions The results underscore distinct, age-related genetic contributions to RP in Korean patients, with RPGR variants demonstrating relevance in early-onset disease, and provide diagnostic insights to improve current practices. These findings can aid in prioritizing gene therapy targets and refining screening strategies.

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.

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.

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.

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.

Background: While inhalation therapy efficacy hinges on attaining proper peak inspiratory flow rate (PIFR), the prevalence of inappropriate PIFR among patients with chronic obstructive pulmonary disease (COPD) remains unstudied in Korea. This study aimed to assess the prevalence of inappropriate PIFR, its correlation with COPD assessment test (CAT) scores, and factors associated with suboptimal PIFR. Methods: We enrolled 108 patients with COPD who had been using the same inhaler for at least 1 year without exacerbations. PIFR was measured using an inspiratory flow meter (In-Check DIAL G16). Demographic, clinical, pulmonary function, and CAT score data were collected. Inappropriate was defined as PIFR <60 L/min for dry power inhaler (DPI) users, and >90 L/min for aerosol device users. Results: The cohort comprised 87 (80.6%) men, mean age 71.0±8.5 years, with mean post-bronchodilator forced expiratory volume in 1 second of 69.1%±1.8% predicted. Twenty-nine (26.9%) used aerosol devices only, 76 (70.4%) used DPIs only, and three (2.8%) used both. Inappropriate PIFRs were found in 17.2% of aerosol device users, and 42.1% of DPI users. CAT scores were significantly higher in the inappropriate PIFR group than in the appropriate PIFR group (11.2±7.7 vs. 7.5±4.9, p=0.003). In DPI users, female, shorter height, lower body weight and maximal voluntary ventilation (MVV) were associated with inappropriate PIFR. Conclusion The prevalence of inappropriate PIFR among patients with COPD is 17.2% for aerosol device users, and 42.1% for DPI users. Suboptimal PIFR correlates with female gender, shorter stature, lower weight and MVV in DPI users.

Background/Aims: This study aimed to develop a rehabilitation program for musculoskeletal pain experienced by gastrointestinal endoscopists and to investigate its usefulness. Methods: This was a multicenter cohort study. During the first 2 weeks, a questionnaire regarding daily workload and musculoskeletal symptoms was administered. Then, a rehabilitation program including equipment/posture correction and stretching was conducted during the remaining 6 weeks. Follow-up daily workload and musculoskeletal symptom surveys were distributed during the last 2 weeks. The program satisfaction survey was performed at the 6th and 8th weeks. Results: Among 118 participants (69 men), 94% (n=111) complained of musculoskeletal pain at baseline. Various hospital activities at baseline were associated with multisite musculoskeletal pain, whereas only a few workloads were correlated with musculoskeletal pain after the rehabilitation program. Follow-up musculoskeletal pain was negatively correlated with equipment/ posture program performance; arm/elbow pain was negatively correlated with elbow (R=–0.307) and wrist (R=–0.205) posture; leg/foot pain was negatively correlated with monitor position, shoulder, elbow, wrist, leg, and foot posture. Higher performance in the scope position (86.8% in the improvement vs 71.3% in the aggravation group, p=0.054) and table height (94.1% vs 79.1%, p=0.054) were associated with pain improvement. An increased number of colonoscopy procedures (6.27 in the aggravation vs 0.02 in the improvement group, p=0.017) was associated with pain aggravation. Most participants reported being average (32%) or satisfied (67%) with the program at the end of the study. Conclusions Our rehabilitation program is easily applicable, satisfactory, and helpful for improving the musculoskeletal pain experienced by gastrointestinal endoscopists.

Orthostatic headache is a hallmark symptom of spontaneous intracranial hypotension (SIH). However, SIH can manifest without headache, which can lead to a significant delay in treatment initiation. We hereby report a 70-year-old male with progressive gait disturbance and superficial siderosis. Magnetic resonance myelography showed an extensive extradural cerebrospinal fluid collection in the cervicothoracic spine. After a series of targeted epidural blood patch, the patient’s symptoms significantly improved. SIH should be considered as a potential cause of otherwise unexplained superficial siderosis to prompt an early diagnosis and treatment.

Background: The purpose of this study was to prepare data for the prevention and management of iron deficiency by analyzing the effects of taking iron supplements provided by blood centers for repeat blood donors. Methods: The high-risk groups with a potential iron deficiency were defined as three or more whole blood donations within the previous year and were provided with iron supplements for three months. Their hemoglobin and ferritin levels were checked up once a month for six months. The effectiveness of the iron supplements was evaluated by analyzing the changes in the initial and monthly hemoglobin and ferritin results. Results: At the time of recruitments, an average 50.4% (40.8% of men and 65.3% of women, respectively) of participants had ferritin levels of less than 15 ng/mL, the World Health Organization iron deficiency standard, but after three months iron supplementation, the results decreased to 10.9% (9.0% of men and 13.8% of women). The ferritin levels increased significantly after taking iron supplements for three months and showed significant increases in both men and women, particularly after two months (P＜0.05). Conclusion The dietary iron supplements containing low-dose iron were effective in preventing iron deficiency in repeat blood donors by increasing the ferritin levels.

Background: The purpose of this study was to prepare data for the prevention and management of iron deficiency by analyzing the effects of taking iron supplements provided by blood centers for repeat blood donors. Methods: The high-risk groups with a potential iron deficiency were defined as three or more whole blood donations within the previous year and were provided with iron supplements for three months. Their hemoglobin and ferritin levels were checked up once a month for six months. The effectiveness of the iron supplements was evaluated by analyzing the changes in the initial and monthly hemoglobin and ferritin results. Results: At the time of recruitments, an average 50.4% (40.8% of men and 65.3% of women, respectively) of participants had ferritin levels of less than 15 ng/mL, the World Health Organization iron deficiency standard, but after three months iron supplementation, the results decreased to 10.9% (9.0% of men and 13.8% of women). The ferritin levels increased significantly after taking iron supplements for three months and showed significant increases in both men and women, particularly after two months (P＜0.05). Conclusion The dietary iron supplements containing low-dose iron were effective in preventing iron deficiency in repeat blood donors by increasing the ferritin levels.