A standardized protocol for the isolation of cell-free DNA (cfDNA) from cerebrospinal fluid (CSF) is lacking. Therefore, we established a cfDNA isolation protocol optimized for clinical CSF specimens, integrating acceptable modifications and using artificial CSF generated from remnant CSF spiked with reference cell-free tumor DNA (ctDNA). We compared the isolation yields of in vitro diagnostic (IVD)-certified column-based (CB) and magnetic beadbased (MB) isolation. Furthermore, we modified both methods, including pre- and postelution steps. To confirm ctDNA integrity and quantify the variant allele frequency after isolation, we performed droplet digital PCR (ddPCR) targeting IDH1 R132C in the reference ctDNA. MB isolation had a higher yield than CB isolation (P < 0.0001), and post-isolation vacuum increased the final concentration in both methods, with little effect on cfDNA integrity. Our study provides a protocol to maximize CSF-ctDNA concentrations in IVD testing and future studies.

OBJECTIVES: This study investigated the prevalence, incidence, and prognosis of cardiac amyloidosis (CA) in Korea. METHODS: This retrospective nationwide population-based study used the Health Insurance Review and Assessment Service databases between 2008 and 2020. All patients diagnosed with amyloidosis were included, and those with a diagnosis of heart failure or cardiomyopathy were classified as having CA. Both the special code for amyloidosis (V121), which enables coverage of medical expenses, and the corresponding International Classification of Diseases, 10th revision codes for amyloidosis (E850- E854, E858, E859) were used to improve the reliability of amyloidosis diagnosis. RESULTS: Among 2,239 patients with amyloidosis, 758 met the criteria for CA (mean age, 64.4±11.9 years; 59.1% male). The mean age of patients with CA increased from 59.5±14.7 years in 2009 to 68.1±13.9 years in 2020. The incidence and prevalence increased from 0.09 (95% confidence interval [CI], 0.06 to 0.12) to 0.22 (95% CI, 0.18 to 0.27) per 100,000 person-years and 0.20 (95% CI, 0.16 to 0.25) to 1.30 (95% CI, 0.12 to 0.42) per 100,000 persons, respectively (all p<0.001). Patients with light-chain CA showed similar trends. In-hospital mortality decreased from 17.3% (95% CI, 9.23 to 29.6) to 6.10% (95% CI, 4.21 to 8.48) between 2009 and 2020. While age-specific in-hospital mortality was significantly higher in patients aged ≥70 years (p=0.004), no significant age-specific difference in in-hospital mortality was observed in patients with CA aged <70 years (p=0.981). CONCLUSIONS The prevalence and incidence of CA have increased in Korea, predominantly affecting older individuals, particularly males. Notably, in-hospital mortality decreased significantly.

β-PIX, a Rac1/Cdc42-specific guanine nucleotide exchange factor, is known to regulate actin cytoskeleton remodeling during cell migration. In this study, we investigated the effects of β-PIX-d, an isoform of β-PIX, on neocortical development and neuritogenesis. Overexpression of β-PIX-d in the embryonic neocortex induced increased cell clusters and enhanced neurite outgrowth in cortical neurons. Following in utero electroporation of β-PIX-d expression vectors into neuronal progenitor cells at embryonic day 13.5 (E13.5), histological analysis at postnatal day 0 (P0) revealed the presence of clustered neurons and neurites outside of the marginal zone (MZ). Immunofluorescence staining with the neuronal marker TuJ1 confirmed that the clustered structures were predominantly composed of neurons. Layer-specific marker analysis further demonstrated the misplacement of layer V-VI neurons into layer I and the subarachnoid space. In primary neocortical cultures, β-PIX-d overexpression promoted neuritogenesis and increased Rac1 activity, as detected by pull-down assays. These findings suggest that β-PIX-d and Rac1 interactions play a critical role in the formation of neocortical clustering and the regulation of neuritogenesis.

Purpose: This study examined the evaluation indicators and frameworks for assessing the effectiveness of the Center for Children’s and Social Welfare Foodservice Management. Methods: A qualitative research design was used, including focus group discussions and indepth interviews cond1ucted with 26 stakeholders, such as center staff, community nutrition experts, and performance evaluation specialists. The interviews were recorded with the participants’ consent, and the transcribed data were analyzed using framework analysis to identify key patterns. Results: The findings highlight several critical issues in the current evaluation framework, including over-reliance on satisfaction surveys, insufficient utilization of checklist data, and a lack of long-term outcome measures. The participants recommended improving satisfaction surveys by diversifying the respondents and refining methodologies. Systematic data management was also highlighted as essential, particularly for data collected by center nutritionists during site visits. These data are crucial for evaluating the effectiveness of overseeing and educating cooks and staff in children’s and social welfare facilities. For the long-term outcome indicators, the participants suggested integrating national health datasets to monitor the food consumption patterns, such as fruit and vegetable intake or sugar-sweetened beverage consumption among children, and tracking medical expenses or hospitalization rates for elderly daycare center users. Well-designed intervention studies were recommended to develop more robust evaluation indicators, particularly for assessing the impact of the centers on the health and quality of life of the elderly. Conclusion Therefore, comprehensive and standardized evaluation systems should be implemented to enhance operational efficiency and service quality. The proposed evaluation scheme can better evaluate and support the health and well-being of vulnerable populations, including children, the elderly, and individuals with disabilities, by aligning these systems with the centers’ mission of ensuring safe and nutritious food services.

Purpose: This study examined the evaluation indicators and frameworks for assessing the effectiveness of the Center for Children’s and Social Welfare Foodservice Management. Methods: A qualitative research design was used, including focus group discussions and indepth interviews cond1ucted with 26 stakeholders, such as center staff, community nutrition experts, and performance evaluation specialists. The interviews were recorded with the participants’ consent, and the transcribed data were analyzed using framework analysis to identify key patterns. Results: The findings highlight several critical issues in the current evaluation framework, including over-reliance on satisfaction surveys, insufficient utilization of checklist data, and a lack of long-term outcome measures. The participants recommended improving satisfaction surveys by diversifying the respondents and refining methodologies. Systematic data management was also highlighted as essential, particularly for data collected by center nutritionists during site visits. These data are crucial for evaluating the effectiveness of overseeing and educating cooks and staff in children’s and social welfare facilities. For the long-term outcome indicators, the participants suggested integrating national health datasets to monitor the food consumption patterns, such as fruit and vegetable intake or sugar-sweetened beverage consumption among children, and tracking medical expenses or hospitalization rates for elderly daycare center users. Well-designed intervention studies were recommended to develop more robust evaluation indicators, particularly for assessing the impact of the centers on the health and quality of life of the elderly. Conclusion Therefore, comprehensive and standardized evaluation systems should be implemented to enhance operational efficiency and service quality. The proposed evaluation scheme can better evaluate and support the health and well-being of vulnerable populations, including children, the elderly, and individuals with disabilities, by aligning these systems with the centers’ mission of ensuring safe and nutritious food services.

OBJECTIVES: This study investigated the prevalence, incidence, and prognosis of cardiac amyloidosis (CA) in Korea. METHODS: This retrospective nationwide population-based study used the Health Insurance Review and Assessment Service databases between 2008 and 2020. All patients diagnosed with amyloidosis were included, and those with a diagnosis of heart failure or cardiomyopathy were classified as having CA. Both the special code for amyloidosis (V121), which enables coverage of medical expenses, and the corresponding International Classification of Diseases, 10th revision codes for amyloidosis (E850- E854, E858, E859) were used to improve the reliability of amyloidosis diagnosis. RESULTS: Among 2,239 patients with amyloidosis, 758 met the criteria for CA (mean age, 64.4±11.9 years; 59.1% male). The mean age of patients with CA increased from 59.5±14.7 years in 2009 to 68.1±13.9 years in 2020. The incidence and prevalence increased from 0.09 (95% confidence interval [CI], 0.06 to 0.12) to 0.22 (95% CI, 0.18 to 0.27) per 100,000 person-years and 0.20 (95% CI, 0.16 to 0.25) to 1.30 (95% CI, 0.12 to 0.42) per 100,000 persons, respectively (all p<0.001). Patients with light-chain CA showed similar trends. In-hospital mortality decreased from 17.3% (95% CI, 9.23 to 29.6) to 6.10% (95% CI, 4.21 to 8.48) between 2009 and 2020. While age-specific in-hospital mortality was significantly higher in patients aged ≥70 years (p=0.004), no significant age-specific difference in in-hospital mortality was observed in patients with CA aged <70 years (p=0.981). CONCLUSIONS The prevalence and incidence of CA have increased in Korea, predominantly affecting older individuals, particularly males. Notably, in-hospital mortality decreased significantly.

β-PIX, a Rac1/Cdc42-specific guanine nucleotide exchange factor, is known to regulate actin cytoskeleton remodeling during cell migration. In this study, we investigated the effects of β-PIX-d, an isoform of β-PIX, on neocortical development and neuritogenesis. Overexpression of β-PIX-d in the embryonic neocortex induced increased cell clusters and enhanced neurite outgrowth in cortical neurons. Following in utero electroporation of β-PIX-d expression vectors into neuronal progenitor cells at embryonic day 13.5 (E13.5), histological analysis at postnatal day 0 (P0) revealed the presence of clustered neurons and neurites outside of the marginal zone (MZ). Immunofluorescence staining with the neuronal marker TuJ1 confirmed that the clustered structures were predominantly composed of neurons. Layer-specific marker analysis further demonstrated the misplacement of layer V-VI neurons into layer I and the subarachnoid space. In primary neocortical cultures, β-PIX-d overexpression promoted neuritogenesis and increased Rac1 activity, as detected by pull-down assays. These findings suggest that β-PIX-d and Rac1 interactions play a critical role in the formation of neocortical clustering and the regulation of neuritogenesis.

OBJECTIVES: This study investigated the prevalence, incidence, and prognosis of cardiac amyloidosis (CA) in Korea. METHODS: This retrospective nationwide population-based study used the Health Insurance Review and Assessment Service databases between 2008 and 2020. All patients diagnosed with amyloidosis were included, and those with a diagnosis of heart failure or cardiomyopathy were classified as having CA. Both the special code for amyloidosis (V121), which enables coverage of medical expenses, and the corresponding International Classification of Diseases, 10th revision codes for amyloidosis (E850- E854, E858, E859) were used to improve the reliability of amyloidosis diagnosis. RESULTS: Among 2,239 patients with amyloidosis, 758 met the criteria for CA (mean age, 64.4±11.9 years; 59.1% male). The mean age of patients with CA increased from 59.5±14.7 years in 2009 to 68.1±13.9 years in 2020. The incidence and prevalence increased from 0.09 (95% confidence interval [CI], 0.06 to 0.12) to 0.22 (95% CI, 0.18 to 0.27) per 100,000 person-years and 0.20 (95% CI, 0.16 to 0.25) to 1.30 (95% CI, 0.12 to 0.42) per 100,000 persons, respectively (all p<0.001). Patients with light-chain CA showed similar trends. In-hospital mortality decreased from 17.3% (95% CI, 9.23 to 29.6) to 6.10% (95% CI, 4.21 to 8.48) between 2009 and 2020. While age-specific in-hospital mortality was significantly higher in patients aged ≥70 years (p=0.004), no significant age-specific difference in in-hospital mortality was observed in patients with CA aged <70 years (p=0.981). CONCLUSIONS The prevalence and incidence of CA have increased in Korea, predominantly affecting older individuals, particularly males. Notably, in-hospital mortality decreased significantly.

β-PIX, a Rac1/Cdc42-specific guanine nucleotide exchange factor, is known to regulate actin cytoskeleton remodeling during cell migration. In this study, we investigated the effects of β-PIX-d, an isoform of β-PIX, on neocortical development and neuritogenesis. Overexpression of β-PIX-d in the embryonic neocortex induced increased cell clusters and enhanced neurite outgrowth in cortical neurons. Following in utero electroporation of β-PIX-d expression vectors into neuronal progenitor cells at embryonic day 13.5 (E13.5), histological analysis at postnatal day 0 (P0) revealed the presence of clustered neurons and neurites outside of the marginal zone (MZ). Immunofluorescence staining with the neuronal marker TuJ1 confirmed that the clustered structures were predominantly composed of neurons. Layer-specific marker analysis further demonstrated the misplacement of layer V-VI neurons into layer I and the subarachnoid space. In primary neocortical cultures, β-PIX-d overexpression promoted neuritogenesis and increased Rac1 activity, as detected by pull-down assays. These findings suggest that β-PIX-d and Rac1 interactions play a critical role in the formation of neocortical clustering and the regulation of neuritogenesis.

Background: The obesity epidemic is associated with the emergence of new kidney diseases including obesity-related glomerulopathy (ORG) and metabolic syndrome-associated disorders. However, the effects of obesity on prevalence and outcome of biopsy-proven kidney disease are not well known. Methods: We analyzed 14,492 kidney biopsies in 18 hospitals from 1979 to 2018 in Korea.Obesity was defined as a body mass index value of ≥ 30 kg/m 2 . Results: The most common disease was IgA nephropathy (IgAN) in both obese and nonobese participants (33.7% vs. 38.9%). Obesity was associated with a higher risk of focal segmental glomerulosclerosis (FSGS) and hypertensive nephropathy (HT-N) (odds ratio [OR], 1.72, 95% confidence interval [CI], 1.37–2.17; OR, 1.96, 95% CI, 1.21–3.19) and a lower risk of IgAN (OR, 0.74, 95% CI, 0.62–0.88). During the median follow up of 93.1 ± 88.7 months, obesity increased the risk of end-stage kidney disease (ESKD) in patients with IgAN (relative risk [RR], 1.49, 95% CI, 1.01–2.20) and lupus nephritis (LN) (RR, 3.43, 95% CI, 1.36–8.67). Of 947 obese individuals, ORG was detected in 298 (31.5%), and 230 participants had other kidney diseases, most commonly, IgAN (40.9%) followed by diabetic nephropathy (15.2%). Participants with ORG, when combined with other renal diseases, showed higher risks for developing ESKD compared to those with ORG alone (RR, 2.48, 95% CI, 1.09–5.64). Conclusion Obesity is associated with an increased risk of FSGS and HT-N, and also increase the ESKD risk in IgAN and LN patients. ORG in obese participants may have favorable renal outcomes if it occurs alone without any other renal disease.