Infantile cortical hyperostosis, or Caffey disease, is a rare genetic disorder characterized by subperiosteal hyperostosis, primarily affecting the long bones, mandible, clavicle, and ribs. It presents with painful swelling in infancy and typically resolves spontaneously by two years of age. The disease follows an autosomal dominant inheritance pattern and is associated with the c.3040C>T (p.Arg1014Cys) mutation in the COL1A1 gene. We report Korean male twins diagnosed with Caffey disease, both developing painful swelling of the lower extremities before six months of age, with the second twin presenting symptoms two months after the first. Radiographic examinations revealed periosteal hyperostosis in the tibiae, femurs, and upper extremities, with progressive mandibular involvement. Laboratory findings showed elevated serum phosphorus, while other biochemical markers remained normal. Single gene sequencing confirmed the c.3040C>T (p.Arg1014Cys) mutation in the COL1A1 gene, inherited from their asymptomatic mother. Conservative pain management led to gradual symptom resolution, with radiographic improvements observed by 27 months of age. Caffey disease should be considered in infants presenting with acute painful limb swelling, and genetic testing, including parental screening, is crucial for diagnosis. This case provides valuable insights into the familial occurrence, genetic basis, and natural progression of Caffey disease, contributing to a deeper understanding of this rare condition.

Background: Delayed post-polypectomy bleeding (DPPB) is a serious complication of polypectomy that is poorly understood. The aim of this study was to evaluate the effectiveness of endoscopic hemostasis in managing DPPB and to identify associated risk factors. Methods: We retrospectively analyzed 289 patients who experienced DPPB (≥ 24 hours after polypectomy) and underwent endoscopic hemostasis at five university hospitals between 2005 and 2018. Patient characteristics, polyp size, technical factors, rebleeding, complications, and length of hospitalization were assessed. Results: Endoscopic hemostasis was successful in all 289 cases of DPPB. The techniques and devices employed included epinephrine injection (24.9%), argon plasma coagulation (18.0%), hemostatic forceps (10.7%), and hemoclips (87.9%). Rebleeding occurred in 15 cases (5.2%) after initial endoscopic hemostasis. The incidence of rebleeding was significantly associated with polyp size (< 10 mm: 2.8%, 10 mm–19 mm: 5.6%, ≥ 20 mm: 13.5%, P = 0.030) and sedation status (yes: 1.8%, no: 7.3%, P = 0.040). However, hemostasis method, bleeding characteristics, and polyp location were not significantly linked to rebleeding. Multivariate analysis revealed that polyp size (odds ratio, 5.02; 95% confidence interval, 1.25–20.13; P = 0.023) was significantly associated with rebleeding after endoscopic hemostasis for DPPB. In all 15 cases of rebleeding, a second endoscopic hemostasis was successfully performed without the need for embolization or surgical intervention. No perforations occurred during the first or second endoscopic hemostatic procedures. Conclusion Polyp size and sedation status were associated with rebleeding after endoscopic hemostasis for DPPB. As an intervention for DPPB, endoscopic hemostasis appears safe and effective.

In the 2023 series, we summarized the major clinical research advances in gynecologic oncology based on communications at the conference of Asian Society of Gynecologic Oncology Review Course. The review consisted of 1) Endometrial cancer: immune checkpoint inhibitor, antibody drug conjugates (ADCs), selective inhibitor of nuclear export, CDK4/6 inhibitors WEE1 inhibitor, poly (ADP-ribose) polymerase (PARP) inhibitors. 2) Cervical cancer: surgery in low-risk early-stage cervical cancer, therapy for locally advanced stage and advanced, metastatic, or recurrent setting; and 3) Ovarian cancer: immunotherapy, triplet therapies using immune checkpoint inhibitors along with antiangiogenic agents and PARP inhibitors, and ADCs. In 2023, the field of endometrial cancer treatment witnessed a landmark year, marked by several practice-changing outcomes with immune checkpoint inhibitors and the reliable efficacy of PARP inhibitors and ADCs.

Purpose: The impacts of growth restriction and programming in the fetal stage on metabolic and bone health in children and adolescents are poorly understood. Moreover, there is insufficient evidence for the relationship between current growth status and metabolic components. Herein, we compared the growth status, metabolic and body compositions, and bone mineral density in Korean children and adolescents based on birth weight at gestational age. Methods: We studied 1,748 subjects (272 small for gestational age [SGA], 1,286 appropriate for gestational age [AGA], and 190 large for gestational age [LGA]; 931 men and 817 women) aged 10–18 years from the Korean National Health and Nutrition Examination Survey (KNHANES) V (2010–2011). Anthropometric measurements, fasting blood biochemistry, and body composition data were analyzed according to birth weight and gestational age. Results: The prevalence of low birth weight (14.7% vs. 1.2% in AGA and 3.2% in LGA, p<0.001) and current short stature (2.237 [1.296–3.861] compared to AGA, p=0.004) in SGA subjects was greater than that in other groups; however, the prevalence of overweight and obesity risks, metabolic syndrome (MetS), and MetS component abnormalities was not. Moreover, no significant differences were found in age- and sex-adjusted lean mass ratio, fat mass ratio, truncal fat ratio, bone mineral content, or bone density among the SGA, AGA, and LGA groups in Korean children and adolescents. Conclusion Our data demonstrate that birth weight alone may not be a determining factor for body composition and bone mass in Korean children and adolescents. Further prospective and longitudinal studies in adults are necessary to confirm the impact of SGA on metabolic components and bone health.

Purpose: Although smoking and alcohol consumption are known risk factors for gastric cancer (GC), studies assessing their effects on early-onset GC are limited. In this nationwide, population-based, prospective cohort study, we assessed the effects of smoking and alcohol consumption on early-onset GC in patients aged <50 years. Materials and Methods: We analyzed data of patients aged 20–39 years who underwent cancer and general health screening in the Korean National Health Screening Program between 2009 and 2012. We calculated the adjusted hazard ratios (aHR) and 95% confidence intervals (CI) for GC incidence until December 2020. Results: We enrolled 6,793,699 individuals (men:women=4,077,292:2,716,407) in this cohort. The mean duration of follow-up was 9.4 years. During follow-up, 9,893 cases of GC (men:women=6,304:3,589) were reported. Compared with the aHRs (95% CI) of neversmokers, those of former and current-smokers were 1.121 (1.044–1.205) and 1.282 (1.212–1.355), respectively. Compared with the aHRs (95% CI) of non-consumers, those of low-moderate- and high-risk alcohol consumers were 1.095 (1.046–1.146) and 1.212 (1.113–1.321), respectively. GC risk was the highest in current-smokers and high-risk alcohol consumers (1.447 [1.297–1.615]).Interestingly, alcohol consumption and smoking additively increased the GC risk in men but not in women (P interaction =0.002). Conclusion Smoking and alcohol consumption are significant risk factors for early-onset GC in young Koreans. Further studies are needed to investigate sex-based impact of alcohol consumption and smoking on GC incidence in young individuals.

Further study is warranted to determine the association between estimated glomerular filtration rate (eGFR) or albuminuria and the risk of death from diverse causes. Methods: We screened >10 million general health screening examinees who received health examinations conducted in 2009 using the claims database of Korea. After the exclusion of those previously diagnosed with renal failure and those with missing data, 9,917,838 individuals with available baseline kidney function measurements were included. The primary outcome was mortality and cause-specific death between 2009 and 2019 identified through death certificates based on the diagnostic codes of International Classification of Diseases, 10th revision. Multivariable Cox regression analysis adjusted for various clinicodemographic and social characteristics was used to assess mortality risk. Results: The hazard ratio of death was significantly high in both the eGFR <60 mL/min/1.73 m2 and in the eGFR ≥120 mL/ min/1.73 m2 groups in univariable and multivariable regression analyses when compared to those within the reference range (eGFR of 90–120 mL/min/1.73 m2). The results were similar for death by cardiovascular, cancer, infection, endocrine, respiratory, and digestive causes. We also found that albuminuria was associated with higher risk of death regardless of eGFR range, and those in the higher categories of dipstick albuminuria showed higher risk. Conclusion: We reconfirmed the significant association between eGFR, albuminuria, and mortality. Healthcare providers should keep in mind that albuminuria and decreased eGFR as well as kidney hyperfiltration are independent predictors of mortality.

In the 2023 series, we summarized the major clinical research advances in gynecologic oncology based on communications at the conference of Asian Society of Gynecologic Oncology Review Course. The review consisted of 1) Endometrial cancer: immune checkpoint inhibitor, antibody drug conjugates (ADCs), selective inhibitor of nuclear export, CDK4/6 inhibitors WEE1 inhibitor, poly (ADP-ribose) polymerase (PARP) inhibitors. 2) Cervical cancer: surgery in low-risk early-stage cervical cancer, therapy for locally advanced stage and advanced, metastatic, or recurrent setting; and 3) Ovarian cancer: immunotherapy, triplet therapies using immune checkpoint inhibitors along with antiangiogenic agents and PARP inhibitors, and ADCs. In 2023, the field of endometrial cancer treatment witnessed a landmark year, marked by several practice-changing outcomes with immune checkpoint inhibitors and the reliable efficacy of PARP inhibitors and ADCs.

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.