Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.

Purpose: This study aimed to investigate the relationship between body composition and glaucoma by analyzing the associations between anthropometric and ocular parameters. Methods: A total of 494 eyes from 247 patients were reviewed from a general health examination database at a tertiary hospital. Anthropometric parameters were assessed using a multifrequency bioelectrical impedance device. Mean ocular perfusion pressure (MOPP) was calculated based on systolic and diastolic blood pressures and intraocular pressure (IOP). Retinal thickness and other ocular parameters were analyzed for their association with body composition. Results: A total of 221 eyes from 221 patients, including 104 with glaucoma, were enrolled in the final analysis. The prevalence of sarcopenia was significantly higher in patients with glaucomatous damage than in those without (p = 0.025). Higher IOP showed significant associations with lower MOPP (p < 0.001), higher body mass index (BMI; p = 0.001), and higher waist to hip ratio (p = 0.001). Retinal thickness was not significantly associated with body composition parameters, including BMI and appendicular lean mass adjusted with squared height. Higher MOPP was significantly correlated with lower IOP (p < 0.001), higher BMI (p < 0.001), higher waist to hip ratio (p < 0.001), and higher appendicular lean mass divided by squared height (p = 0.009). Conclusions Skeletal muscle mass and BMI were significantly associated with MOPP. Since low MOPP is a known risk factor for glaucoma, its association with skeletal muscle mass may indicate a relationship between systemic muscle health, ocular blood perfusion, and glaucomatous damage. Further large-scale studies are needed to validate these associations between skeletal muscle mass and glaucoma and explore their clinical implications.

Background: Spinal cord stimulators (SCSs) are used to reduce pain and improve quality of life in patients with complex regional pain syndrome (CRPS). However, many patients opt for device removal after SCS implantation due to diminished effect or complications. There is limited research on the actual duration of SCS use in CRPS patients, and no nationwide population-based studies exist. This study aimed to estimate the real-world duration of SCS use in CRPS patients and examine the influencing factors on the duration of SCS use by analyzing the National Healthcare Insurance Database. Methods: Adult patients (age ≥ 18) with CRPS who underwent permanent SCS implantation between 2014 and2021 were included. The authors analyzed the median duration of SCS implantation and evaluated the impacts of age, sex, hospital type, and insurance type. Results: Of 408 potential patients, 373 patients were included. The median duration of SCS use was 4.4 (95%confidence interval [CI]: 4.0–4.8) years. Male patients retained SCSs longer than female patients (4.7 vs. 4.0 years, P = 0.014), and veterans’ healthcare beneficiaries showed the longest duration of SCS use (median 6.9 [95% CI: 4.6–7.8] years). Age and hospital type did not affect the duration of SCS use (P = 0.381 and P = 0.122, respectively). Conclusions The median SCS use duration in CRPS patients was 4.4 years. Considering the high cost and invasiveness of SCS, patients should be informed about the expected duration of SCS use, alongside potential risks and benefits.

Purpose: This study aimed to investigate the relationship between body composition and glaucoma by analyzing the associations between anthropometric and ocular parameters. Methods: A total of 494 eyes from 247 patients were reviewed from a general health examination database at a tertiary hospital. Anthropometric parameters were assessed using a multifrequency bioelectrical impedance device. Mean ocular perfusion pressure (MOPP) was calculated based on systolic and diastolic blood pressures and intraocular pressure (IOP). Retinal thickness and other ocular parameters were analyzed for their association with body composition. Results: A total of 221 eyes from 221 patients, including 104 with glaucoma, were enrolled in the final analysis. The prevalence of sarcopenia was significantly higher in patients with glaucomatous damage than in those without (p = 0.025). Higher IOP showed significant associations with lower MOPP (p < 0.001), higher body mass index (BMI; p = 0.001), and higher waist to hip ratio (p = 0.001). Retinal thickness was not significantly associated with body composition parameters, including BMI and appendicular lean mass adjusted with squared height. Higher MOPP was significantly correlated with lower IOP (p < 0.001), higher BMI (p < 0.001), higher waist to hip ratio (p < 0.001), and higher appendicular lean mass divided by squared height (p = 0.009). Conclusions Skeletal muscle mass and BMI were significantly associated with MOPP. Since low MOPP is a known risk factor for glaucoma, its association with skeletal muscle mass may indicate a relationship between systemic muscle health, ocular blood perfusion, and glaucomatous damage. Further large-scale studies are needed to validate these associations between skeletal muscle mass and glaucoma and explore their clinical implications.

Background: Spinal cord stimulators (SCSs) are used to reduce pain and improve quality of life in patients with complex regional pain syndrome (CRPS). However, many patients opt for device removal after SCS implantation due to diminished effect or complications. There is limited research on the actual duration of SCS use in CRPS patients, and no nationwide population-based studies exist. This study aimed to estimate the real-world duration of SCS use in CRPS patients and examine the influencing factors on the duration of SCS use by analyzing the National Healthcare Insurance Database. Methods: Adult patients (age ≥ 18) with CRPS who underwent permanent SCS implantation between 2014 and2021 were included. The authors analyzed the median duration of SCS implantation and evaluated the impacts of age, sex, hospital type, and insurance type. Results: Of 408 potential patients, 373 patients were included. The median duration of SCS use was 4.4 (95%confidence interval [CI]: 4.0–4.8) years. Male patients retained SCSs longer than female patients (4.7 vs. 4.0 years, P = 0.014), and veterans’ healthcare beneficiaries showed the longest duration of SCS use (median 6.9 [95% CI: 4.6–7.8] years). Age and hospital type did not affect the duration of SCS use (P = 0.381 and P = 0.122, respectively). Conclusions The median SCS use duration in CRPS patients was 4.4 years. Considering the high cost and invasiveness of SCS, patients should be informed about the expected duration of SCS use, alongside potential risks and benefits.

Background: Spinal cord stimulators (SCSs) are used to reduce pain and improve quality of life in patients with complex regional pain syndrome (CRPS). However, many patients opt for device removal after SCS implantation due to diminished effect or complications. There is limited research on the actual duration of SCS use in CRPS patients, and no nationwide population-based studies exist. This study aimed to estimate the real-world duration of SCS use in CRPS patients and examine the influencing factors on the duration of SCS use by analyzing the National Healthcare Insurance Database. Methods: Adult patients (age ≥ 18) with CRPS who underwent permanent SCS implantation between 2014 and2021 were included. The authors analyzed the median duration of SCS implantation and evaluated the impacts of age, sex, hospital type, and insurance type. Results: Of 408 potential patients, 373 patients were included. The median duration of SCS use was 4.4 (95%confidence interval [CI]: 4.0–4.8) years. Male patients retained SCSs longer than female patients (4.7 vs. 4.0 years, P = 0.014), and veterans’ healthcare beneficiaries showed the longest duration of SCS use (median 6.9 [95% CI: 4.6–7.8] years). Age and hospital type did not affect the duration of SCS use (P = 0.381 and P = 0.122, respectively). Conclusions The median SCS use duration in CRPS patients was 4.4 years. Considering the high cost and invasiveness of SCS, patients should be informed about the expected duration of SCS use, alongside potential risks and benefits.

Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.

Background: Liver transplantation (LT) is the standard treatment for end-stage liver disease; however, it can lead to biliary strictures in 25%–30% of cases. We aimed to develop a biodegradable stent loaded with paclitaxel that could be inserted during surgery without requiring removal. We evaluated the safety and efficacy of this stent using a porcine model. Methods: Fourteen pigs underwent simulated ischemic injury during LT, and a biodegradable paclitaxel-eluting stent was inserted after duct-to-duct anastomosis.Pigs were divided into four groups: no stent (n=3), bare stent (n=3), 300 µg paclitaxel stent (n=4), and 900 µg paclitaxel stent (n=4). After 3 months of follow-up, autopsies were conducted to obtain common bile duct tissue samples, and inflammation and fibrosis thicknesses were assessed under a microscope. Results: Most tissues had resolved the inflammatory reactions by the 3-month mark. The thinnest fibrosis thickness was observed in the 900 µg group (359.08±167.23 µm); however, no statistical significance was observed. Conclusion This study demonstrated the safety of paclitaxel-eluting biodegradable biliary stents and their positive effects on fibrosis in an ischemic bile duct porcine model. This biodegradable stent represents a potential approach for overcoming the complications associated with biliary strictures after LT.

Objective: : In degenerative lumbar spondylolisthesis, interbody fusion surgery (IFS) has long been recommended as the gold standard of surgical management. However, IFS is less recommended for high-risk patients such as the elderly because it involves extensive surgery, with a long operation time and high volumes of blood loss, which lead to marked perioperative morbidity. We report an alternative primary and salvage treatment technique for high-risk lumbar spondylolisthesis through posterior lumbar element reinforcement using interspinous fixation and decompression alone without interbody fusion. Methods: : Plain radiographs, computed tomography scans, and magnetic resonance imaging, taken at different intervals, were used to measure local disc height (DH), vertebral body slippage (BS), and segmental motion angle (SMA). A Visual analogue scale and the Oswestry disability index (ODI) were applied pre-operation and at the last follow-up. Results: : The local SMA decreased significantly by 3.46°±3.07°, from 10.61°±3.42° preoperatively to 7.15±3.70 at the last follow-up (p<0.001). The DH decreased from 8.61±2.88 mm preoperatively to 8.41±2.48 mm at the last follow-up (p=0.074). The BS decreased from 3.49±4.29 mm preoperatively to 3.41±4.91 mm at the last follow-up (p=0.092). None of the patients reported worsening pain or an increased ODI after surgery, and there were no surgery-related complications. Conclusion : Posterior lumbar element reinforcement by decompression alone with SPIRE™ fixation is an alternative primary and salvage treatment option for select patients with spondylolisthesis.

Objective: : In degenerative lumbar spondylolisthesis, interbody fusion surgery (IFS) has long been recommended as the gold standard of surgical management. However, IFS is less recommended for high-risk patients such as the elderly because it involves extensive surgery, with a long operation time and high volumes of blood loss, which lead to marked perioperative morbidity. We report an alternative primary and salvage treatment technique for high-risk lumbar spondylolisthesis through posterior lumbar element reinforcement using interspinous fixation and decompression alone without interbody fusion. Methods: : Plain radiographs, computed tomography scans, and magnetic resonance imaging, taken at different intervals, were used to measure local disc height (DH), vertebral body slippage (BS), and segmental motion angle (SMA). A Visual analogue scale and the Oswestry disability index (ODI) were applied pre-operation and at the last follow-up. Results: : The local SMA decreased significantly by 3.46°±3.07°, from 10.61°±3.42° preoperatively to 7.15±3.70 at the last follow-up (p<0.001). The DH decreased from 8.61±2.88 mm preoperatively to 8.41±2.48 mm at the last follow-up (p=0.074). The BS decreased from 3.49±4.29 mm preoperatively to 3.41±4.91 mm at the last follow-up (p=0.092). None of the patients reported worsening pain or an increased ODI after surgery, and there were no surgery-related complications. Conclusion : Posterior lumbar element reinforcement by decompression alone with SPIRE™ fixation is an alternative primary and salvage treatment option for select patients with spondylolisthesis.