Background: As nationwide government-led whole-genome sequencing (WGS) projects progress, optimizing the clinical integration of large-scale WGS results is crucial. We explored how the initial analysis from Korea’s First WGS Pilot Study for Rare Diseases was applied in clinical practice, and then we reanalyzed the data comprehensively at Samsung Medical Center (SMC) Seoul, Korea. Methods: A prospective cohort study designed to collect WGS data under a Korean national initiative was conducted from August 2020 to December 2021. We focused on patients with rare diseases recruited from 16 university hospitals. The participants included 5,000 individuals (2,200 probands and 2,800 family members). The initial WGS data and diagnostic reference reports (from 682 probands and 484 family members), generated based on the First Korean WGS Pilot Study for Rare Diseases, were subsequently reanalyzed by SMC. Results: The initial analysis of the First Korean WGS Pilot Study data revealed a diagnostic rate of 17%. Upon receiving these results, the SMC conducted two rounds of reanalysis, increasing the diagnostic rate from 15% in the first analysis, to 18% in the second, and finally to 24% in the third (P = 1.6 × 10 −5 ). Key factors in improving the genetic diagnosis included increased detection of novel (likely) pathogenic variants (P = 1.0 × 10 −4 ), improved diagnostic rates with larger family recruitment (P = 0.004), and refined clinical information for more precise genotype–phenotype correlation analysis (40%). Conclusions Although national WGS projects lay a foundation for rare disease diagnosis, hospital-level reanalysis and multidisciplinary collaborations are crucial for optimizing diagnostic outcomes.

Purpose: The aim of this study is to compare the detection ability of quality of life (QoL) changes and responsiveness of the KOrean QUality of life in Stomach cancer patients Study group (KOQUSS)-40 and European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ). Materials and Methods: A multicenter prospective observational study was conducted to evaluate QoL changes after various gastrectomies between January 2021 and April 2022. Participants were instructed to complete the KOQUSS-40 and EORTC QLQ-C30/STO22 preoperatively and at 1, 3, 6, and 12 months postoperatively. QoL changes over time and QoL responsiveness were assessed for each questionnaire. Results: Data from 491 patients who underwent curative gastrectomy for gastric cancer at 22 institutions were analyzed. The summary scores of the KOQUSS-40 and EORTC QLQ-STO22 showed significant differences between the total and proximal gastrectomy groups (p=0.044 and p=0.038, respectively), but no difference was observed for the EORTC QLQ-C30. Dysphagia on the KOQUSS-40 was significantly different between the total and proximal gastrectomy groups (p=0.031); however, dysphagia on the EORTC QLQ-STO22 did not differ. The responsiveness of the KOQUSS-40 was similar to that of the EORTC QLQ in patients who experienced ≥ 10% body weight loss, but approximately 10% less in patients receiving adjuvant chemotherapy than the EORTC QLQ. Conclusion KOQUSS-40 has several advantages over EORTC QLQ-C30/STO22 when comparing QoL between the total and proximal gastrectomy groups. The findings provide information for researchers investigating the QoL of patients who have undergone curative gastrectomy for gastric cancer.

Ectopic kidney is a rare congenital anomaly which occurs in approximately 1 in 1,000 live births. Intrathoracic kidney is the rarest type of the ectopic kidney, which constitutes < 5% of all ectopic kidney cases. It is often associated with congenital diaphragmatic hernia, which can cause severe respiratory distress. However, most patients with intrathoracic kidney are asymptomatic, and incidentally diagnosed with prenatal ultrasonography or chest radiography after birth as intrathoracic mass-like lesion. In this study, we report a case of an asymptomatic neonate with intrathoracic kidney. An intrathoracic mass was detected in plain chest radiography of a 17-day-old boy, and it was identified as the right kidney in the thoracic cavity by computed tomography and ultrasonography.Correction of the ectopic kidney and repair of diaphragmatic hernia were successful at the age of 52 days. After the operation, the right kidney was normally detected in the right renal fossa, and there was no recurrence of diaphragmatic hernia. To the best of our knowledge, the present case is the only reported case of intrathoracic kidney at the neonatal period, in South Korea. Careful review of chest radiography at the neonatal period and clinical suspicion of rare diseases like herniation of intraabdominal organ are needed.

Ectopic kidney is a rare congenital anomaly which occurs in approximately 1 in 1,000 live births. Intrathoracic kidney is the rarest type of the ectopic kidney, which constitutes < 5% of all ectopic kidney cases. It is often associated with congenital diaphragmatic hernia, which can cause severe respiratory distress. However, most patients with intrathoracic kidney are asymptomatic, and incidentally diagnosed with prenatal ultrasonography or chest radiography after birth as intrathoracic mass-like lesion. In this study, we report a case of an asymptomatic neonate with intrathoracic kidney. An intrathoracic mass was detected in plain chest radiography of a 17-day-old boy, and it was identified as the right kidney in the thoracic cavity by computed tomography and ultrasonography.Correction of the ectopic kidney and repair of diaphragmatic hernia were successful at the age of 52 days. After the operation, the right kidney was normally detected in the right renal fossa, and there was no recurrence of diaphragmatic hernia. To the best of our knowledge, the present case is the only reported case of intrathoracic kidney at the neonatal period, in South Korea. Careful review of chest radiography at the neonatal period and clinical suspicion of rare diseases like herniation of intraabdominal organ are needed.

Background: In vitro and animal studies have demonstrated that bone morphogenetic protein-7 (BMP-7), renowned for its osteogenic properties, also exerts beneficial effects on muscle metabolism by enhancing myogenesis and reversing muscle atrophy. Despite being proposed as a common regulatory factor for both muscle and bone, the impact of BMP-7 on human muscle health has not been thoroughly investigated. Methods: This cross-sectional study involved 182 community-dwelling older adults who underwent a comprehensive geriatric assessment in South Korea. Sarcopenia was diagnosed using Asian-specific cutoffs, and serum BMP-7 levels were quantified via enzyme immunoassay. Results: The mean age of the participants was 72.2±7.3 years, with 62.6% being female. After adjustments for confounders, serum BMP-7 levels were not significantly different between individuals with and without sarcopenia, nor were there differences based on skeletal muscle mass, strength, or physical performance levels (p=0.423 to 0.681). Likewise, no correlations were detected between circulating BMP-7 levels and any sarcopenia assessment metrics such as skeletal muscle index, grip strength, gait speed, or chair stand completion times (p=0.127 to 0.577). No significant associations were observed between increases in serum BMP-7 concentrations and the risk of sarcopenia or poor muscle phenotypes (p=0.431 to 0.712). Stratifying participants into quartiles based on serum BMP-7 levels also indicated no differences in sarcopenia-related parameters (p=0.663 to 0.996). Conclusion Despite experimental evidence supporting BMP-7’s role in muscle metabolism, this study found no significant association between serum BMP-7 levels and clinical indicators of muscle health in older adults. These findings challenge the utility of serum BMP-7 as a biomarker for sarcopenia in this demographic.

Purpose: This study evaluated the postoperative quality of life (QoL) after various types of gastrectomy for gastric cancer. Materials and Methods: A multicenter prospective observational study was conducted in Korea using the Korean Quality of Life in Stomach Cancer Patients Study (KOQUSS)-40, a new QoL assessment tool focusing on postgastrectomy syndrome. Overall, 496 patients with gastric cancer were enrolled, and QoL was assessed at 5 time points: preoperatively and at 1, 3, 6, and 12 months after surgery. Results: Distal gastrectomy (DG) and pylorus-preserving gastrectomy (PPG) showed significantly better outcomes than total gastrectomy (TG) and proximal gastrectomy (PG) with regard to total score, indigestion, and dysphagia. DG, PPG, and TG also showed significantly better outcomes than PG in terms of dumping syndrome and worry about cancer. Postoperative QoL did not differ significantly according to anastomosis type in DG, except for Billroth I anastomosis, which achieved better bowel habit change scores than the others. No domains differed significantly when comparing double tract reconstruction and esophagogastrostomy after PG. The total QoL score correlated significantly with postoperative body weight loss (more than 10%) and extent of resection (P<0.05 for both).Reflux as assessed by KOQUSS-40 did not correlate significantly with reflux observed on gastroscopy 1 year postoperatively (P=0.064). Conclusions Our prospective observation using KOQUSS-40 revealed that DG and PPG lead to better QoL than TG and PG. Further study is needed to compare postoperative QoL according to anastomosis type in DG and PG.

Background: Sclerostin, initially recognized for its pivotal role in bone metabolism, has gained attention for its multifaceted impact on overall human health. However, its influence on frailty—a condition that best reflects biological age—has not been thoroughly investigated. Methods: We collected blood samples from 244 older adults who underwent comprehensive geriatric assessments. Sclerostin levels were quantified using an enzyme-linked immunosorbent assay. Frailty was assessed using two validated approaches: the phenotypic model by Fried and the deficit accumulation frailty index (FI) by Rockwood. Results: After controlling for sex, age, and body mass index, we found that serum sclerostin levels were significantly elevated in frail individuals compared to their robust counterparts (P<0.001). There was a positive correlation between serum sclerostin concentrations and the FI (P<0.001). Each standard deviation increase in serum sclerostin was associated with an odds ratio of 1.87 for frailty (P=0.003). Moreover, participants in the highest quartile of sclerostin levels had a significantly higher FI and a 9.91-fold increased odds of frailty compared to those in the lowest quartile (P=0.003 and P=0.039, respectively). Conclusion These findings, which for the first time explore the association between circulating sclerostin levels and frailty, have significant clinical implications, positioning sclerostin as one of potential blood-based biomarkers for frailty that captures the comprehensive physical, mental, and social aspects of the elderly, extending beyond its traditional role in bone metabolism.

Ectopic kidney is a rare congenital anomaly which occurs in approximately 1 in 1,000 live births. Intrathoracic kidney is the rarest type of the ectopic kidney, which constitutes < 5% of all ectopic kidney cases. It is often associated with congenital diaphragmatic hernia, which can cause severe respiratory distress. However, most patients with intrathoracic kidney are asymptomatic, and incidentally diagnosed with prenatal ultrasonography or chest radiography after birth as intrathoracic mass-like lesion. In this study, we report a case of an asymptomatic neonate with intrathoracic kidney. An intrathoracic mass was detected in plain chest radiography of a 17-day-old boy, and it was identified as the right kidney in the thoracic cavity by computed tomography and ultrasonography.Correction of the ectopic kidney and repair of diaphragmatic hernia were successful at the age of 52 days. After the operation, the right kidney was normally detected in the right renal fossa, and there was no recurrence of diaphragmatic hernia. To the best of our knowledge, the present case is the only reported case of intrathoracic kidney at the neonatal period, in South Korea. Careful review of chest radiography at the neonatal period and clinical suspicion of rare diseases like herniation of intraabdominal organ are needed.

Ectopic kidney is a rare congenital anomaly which occurs in approximately 1 in 1,000 live births. Intrathoracic kidney is the rarest type of the ectopic kidney, which constitutes < 5% of all ectopic kidney cases. It is often associated with congenital diaphragmatic hernia, which can cause severe respiratory distress. However, most patients with intrathoracic kidney are asymptomatic, and incidentally diagnosed with prenatal ultrasonography or chest radiography after birth as intrathoracic mass-like lesion. In this study, we report a case of an asymptomatic neonate with intrathoracic kidney. An intrathoracic mass was detected in plain chest radiography of a 17-day-old boy, and it was identified as the right kidney in the thoracic cavity by computed tomography and ultrasonography.Correction of the ectopic kidney and repair of diaphragmatic hernia were successful at the age of 52 days. After the operation, the right kidney was normally detected in the right renal fossa, and there was no recurrence of diaphragmatic hernia. To the best of our knowledge, the present case is the only reported case of intrathoracic kidney at the neonatal period, in South Korea. Careful review of chest radiography at the neonatal period and clinical suspicion of rare diseases like herniation of intraabdominal organ are needed.

Background: In vitro and animal studies have demonstrated that bone morphogenetic protein-7 (BMP-7), renowned for its osteogenic properties, also exerts beneficial effects on muscle metabolism by enhancing myogenesis and reversing muscle atrophy. Despite being proposed as a common regulatory factor for both muscle and bone, the impact of BMP-7 on human muscle health has not been thoroughly investigated. Methods: This cross-sectional study involved 182 community-dwelling older adults who underwent a comprehensive geriatric assessment in South Korea. Sarcopenia was diagnosed using Asian-specific cutoffs, and serum BMP-7 levels were quantified via enzyme immunoassay. Results: The mean age of the participants was 72.2±7.3 years, with 62.6% being female. After adjustments for confounders, serum BMP-7 levels were not significantly different between individuals with and without sarcopenia, nor were there differences based on skeletal muscle mass, strength, or physical performance levels (p=0.423 to 0.681). Likewise, no correlations were detected between circulating BMP-7 levels and any sarcopenia assessment metrics such as skeletal muscle index, grip strength, gait speed, or chair stand completion times (p=0.127 to 0.577). No significant associations were observed between increases in serum BMP-7 concentrations and the risk of sarcopenia or poor muscle phenotypes (p=0.431 to 0.712). Stratifying participants into quartiles based on serum BMP-7 levels also indicated no differences in sarcopenia-related parameters (p=0.663 to 0.996). Conclusion Despite experimental evidence supporting BMP-7’s role in muscle metabolism, this study found no significant association between serum BMP-7 levels and clinical indicators of muscle health in older adults. These findings challenge the utility of serum BMP-7 as a biomarker for sarcopenia in this demographic.