Purpose: We investigated the ophthalmic manifestations of Korean patients with Williams syndrome registered at a single regional rare disease center over the past 30 years. Methods: We conducted a retrospective analysis of the medical records of 19 patients who underwent complete ophthalmic examinations among 56 patients diagnosed with Williams syndrome and enrolled between September 1994 and August 2024. Results: Nineteen patients with Williams syndrome (7 boys and 12 girls) underwent their first ophthalmic examination at a mean age of 2.6 ± 2.8 years and were followed for 5.5 ± 5.1 years. Of these, 16 patients (84%) had cardiovascular abnormalities, 2 (11%) had infantile hypercalcemia, and 17 (89%) exhibited developmental delay. All patients displayed characteristic facial features with puffy eyelids. Congenital nasolacrimal duct obstruction occurred in 3 patients (16%) and resolved spontaneously. A stellate iris pattern involving approximately half the iris width was observed in 10 patients (53%). Strabismus was present in 13 patients (68%), including 6 with exotropia (1 with Duane retraction syndrome type 2) and 7 with esotropia. At the final refractive assessment (mean age 8.1 ± 2.5 years), 4 patients had hyperopia, 4 had myopia (including 1 with high myopia), 4 had astigmatism, and 3 had anisometropia; 7 patients (37%) required spectacle correction. Of the 11 patients with measurable visual acuity, 5 (45%) had amblyopia. Retinal vascular tortuosity was observed in 11 patients (58%), and attenuated retinal vessels in 10 (53%). Optical coherence tomography performed in 5 patients with normal visual acuity revealed markedly reduced central macular thickness in all, and a wide foveal pit in 1 patient. Conclusions Williams syndrome is associated with diverse ophthalmic manifestations that warrant regular and comprehensive ophthalmic follow-up.

Background: Obesity is a well-known risk factor for chronic kidney disease and its progression. However, the impact of obesity on the renal function of the elderly population is uncertain. We investigated the association between obesity and renal outcomes in the elderly. Methods: We analyzed 130,504 participants from the Korean National Health Insurance Service-Senior cohort. Obesity was classified according to body mass index (BMI), sex-specific waist circumference (WC), and the presence of metabolic syndrome. The primary outcome was renal function decline, defined as a decline in the estimated glomerular filtration rate (eGFR) of at least 50% from baseline or new-onset end-stage renal disease. Results: During a follow-up period of 559,531.1 person-years (median, 4.3 years), 2,486 participants (19.0%; incidence rate of 4.44 per 1,000 person-years) showed renal function decline. A multivariate Cox proportional hazards model revealed that BMI/WC was not associated with renal function decline. However, the group with metabolic syndrome had a significantly increased risk of renal function decline compared to the group without metabolic syndrome (adjusted hazard ratio [HR], 1.24; 95% confidence interval [CI], 1.13–1.36). Compared with the non-metabolic syndrome group, the adjusted HRs (95% CI) for participants with one through five components were 0.96 (0.84–1.11), 1.10 (0.96–1.27), 1.24 (1.06–1.45), 1.37 (1.12–1.66), and 1.99 (1.42–2.79), respectively (p for trend < 0.001). Conclusion In elderly Korean adults, metabolic syndrome and the number of its components were associated with a higher risk of renal function decline, but BMI or WC was not significant.

Four soluble factors—putrescine, glucosamine, nicotinamide, and signal transducer and activator of transcription 3 (STAT3) inhibitor BP-1-102—were shown to differentiate bone marrow mononucleated cells (BMNCs) into functional insulin-producing cells (IPCs) in vitro. Transplantation of these IPCs improved hyperglycemia in diabetic mice. However, the role of endogenous BMNC regeneration in this effect was unclear. This study aimed to evaluate the effect of these factors on in vivo BMNC differentiation into IPCs in diabetic mice. Mice were orally administered the factors for 5 days, twice at 2-week intervals, and monitored for 45–55 days. Glucose tolerance, glucose-stimulated insulin secretion, and pancreatic insulin content were measured. Chimeric mice harboring BMNCs from insulin promoter luciferase/green fluorescent protein (GFP) transgenic mice were used to track endogenous BMNC fate. These factors lowered blood glucose levels, improved glucose tolerance, and enhanced insulin secretion. Immunostaining confirmed IPCs in the pancreas, showing the potential of these factors to induce β-cell regeneration and improve diabetes treatment.

Four soluble factors—putrescine, glucosamine, nicotinamide, and signal transducer and activator of transcription 3 (STAT3) inhibitor BP-1-102—were shown to differentiate bone marrow mononucleated cells (BMNCs) into functional insulin-producing cells (IPCs) in vitro. Transplantation of these IPCs improved hyperglycemia in diabetic mice. However, the role of endogenous BMNC regeneration in this effect was unclear. This study aimed to evaluate the effect of these factors on in vivo BMNC differentiation into IPCs in diabetic mice. Mice were orally administered the factors for 5 days, twice at 2-week intervals, and monitored for 45–55 days. Glucose tolerance, glucose-stimulated insulin secretion, and pancreatic insulin content were measured. Chimeric mice harboring BMNCs from insulin promoter luciferase/green fluorescent protein (GFP) transgenic mice were used to track endogenous BMNC fate. These factors lowered blood glucose levels, improved glucose tolerance, and enhanced insulin secretion. Immunostaining confirmed IPCs in the pancreas, showing the potential of these factors to induce β-cell regeneration and improve diabetes treatment.

Four soluble factors—putrescine, glucosamine, nicotinamide, and signal transducer and activator of transcription 3 (STAT3) inhibitor BP-1-102—were shown to differentiate bone marrow mononucleated cells (BMNCs) into functional insulin-producing cells (IPCs) in vitro. Transplantation of these IPCs improved hyperglycemia in diabetic mice. However, the role of endogenous BMNC regeneration in this effect was unclear. This study aimed to evaluate the effect of these factors on in vivo BMNC differentiation into IPCs in diabetic mice. Mice were orally administered the factors for 5 days, twice at 2-week intervals, and monitored for 45–55 days. Glucose tolerance, glucose-stimulated insulin secretion, and pancreatic insulin content were measured. Chimeric mice harboring BMNCs from insulin promoter luciferase/green fluorescent protein (GFP) transgenic mice were used to track endogenous BMNC fate. These factors lowered blood glucose levels, improved glucose tolerance, and enhanced insulin secretion. Immunostaining confirmed IPCs in the pancreas, showing the potential of these factors to induce β-cell regeneration and improve diabetes treatment.

Four soluble factors—putrescine, glucosamine, nicotinamide, and signal transducer and activator of transcription 3 (STAT3) inhibitor BP-1-102—were shown to differentiate bone marrow mononucleated cells (BMNCs) into functional insulin-producing cells (IPCs) in vitro. Transplantation of these IPCs improved hyperglycemia in diabetic mice. However, the role of endogenous BMNC regeneration in this effect was unclear. This study aimed to evaluate the effect of these factors on in vivo BMNC differentiation into IPCs in diabetic mice. Mice were orally administered the factors for 5 days, twice at 2-week intervals, and monitored for 45–55 days. Glucose tolerance, glucose-stimulated insulin secretion, and pancreatic insulin content were measured. Chimeric mice harboring BMNCs from insulin promoter luciferase/green fluorescent protein (GFP) transgenic mice were used to track endogenous BMNC fate. These factors lowered blood glucose levels, improved glucose tolerance, and enhanced insulin secretion. Immunostaining confirmed IPCs in the pancreas, showing the potential of these factors to induce β-cell regeneration and improve diabetes treatment.

Early mortality following hemodialysis initiation hinders survival improvement in older patients. This study aimed to develop a clinical risk model for predicting 6-month mortality after dialysis initiation in older Korean hemodialysis patients. Methods: We analyzed data from incident hemodialysis patients aged >70 years from the Korean Society of Geriatric Nephrology (KSGN) database. A prediction model was developed using multivariate logistic regression analysis and externally validated with independent datasets. Results: Among 1,751 incident hemodialysis patients, the 6-month mortality rate was 15.5%. Using multivariate logistic analysis, we constructed the KSGN score as an independent risk factor for 6-month mortality, and its components and score are as follows: old age at dialysis initiation (≥85 years, score 2); hypertension and renovascular disease as a primary etiology of end-stage kidney disease (ESKD) (score 1); malignancy history (yes, score 1); low serum albumin (<3.5 g/dL, score 1); hypertension treatment (yes, score –1); prepared vascular access on maintenance dialysis (arteriovenous fistula/arteriovenous graft, score –3). In the development cohort, the area under the curve (AUC) for the KSGN score was significantly higher than the Alberta Wick’s score (0.707 vs. 0.683, p = 0.001). In the validation cohort, the KSGN score’s performance was comparable to existing models. Conclusion: The KSGN score may be a valuable tool for predicting early mortality after dialysis initiation in older patients with ESKD, aiding in decision-making and management regarding dialysis initiation.

Purpose: In Korea, the Health Insurance Review and Assessment Service (HIRA) mandates patient participation in outpatient multidisciplinary team (MDT) meetings as part of national cancer quality assessment. However, the necessity of involving patients and families in MDT discussions remains debatable. This study explored international expert perspectives on patient participation in gastric cancer MDTs. Methods: A cross-national expert survey was conducted in September 2021 among 15 gastric cancer specialists from Korea, China, Japan, Singapore, and the United States. The survey assessed the frequency of patient and family member attendance, perceived pros and cons, and preferences regarding mandatory versus selective involvement. Additionally, MDT structures and policies were reviewed by countries. Results: Most respondents reported that patients and families rarely or never attend MDT meetings: nine stated that patients are never included, three reported “usually not,” and three indicated “sometimes.” None consistently included patients. The most cited benefits were sharing opinions with patients and families simultaneously, followed by improved explanation of treatment and legal protection. Major concerns included hindered discussion, inefficiency, and logistical challenges. Only four respondents supported routine participation, while 11 favored case-dependent involvement. Conclusion International experts do not widely support mandatory patient participation in MDT meetings. A flexible approach that allows MDTs to operate with or without patient involvement may better reflect actual clinical practice.

Purpose: To investigate the ophthalmic findings associated with abusive head trauma (AHT) at a major trauma center in Korea. Methods: We retrospectively reviewed the medical records of 14 children with AHT referred for an ophthalmologic examination at a large regional trauma center from January 2011 to December 2022. We analyzed pertinent findings for AHT and its sequelae on brain computed tomography, skeletal surveys obtained using X-ray, external photographs, and fundus photographs taken with a portable fundus camera. Results: Among 14 patients (mean age, 7.4 months) with subdural hematoma from AHT, nine (64.3%) had retinal hemorrhages. Eight of these patients (88.9%) required neurosurgery, while only one child (20.0%) among the five without retinal hemorrhages needed drainage for brain hemorrhages. All patients with retinal hemorrhages (mean age, 6.0 months) presented with numerous multilayered hemorrhages across the entire retina including dome-shaped hemorrhages (six patients), perimacular ridges (one patient), and retinal hemorrhages at different stages of healing (one patient). The retinal hemorrhages resolved within an average of 2.4 months without necessitating retinal surgery. In five patients followed for an average of 28.2 months, there were instances of optic disc pallor in three, cortical visual impairment in one, and fovea scarring in one. Conclusions More than half of the Korean children with AHT had extensive retinal hemorrhages leading to ophthalmic sequelae in the majority. These findings support the need for long-term active ophthalmic follow-up in AHT cases.