Background: and Purpose: The Cognitive Impairment Screening Test (CIST) was developed for use at the Community Dementia Reassurance Center in South Korea. This study evaluated convergent and discriminant validity of CIST, as well as its clinical utility in identifying cognitive impairment and differentiating amyloid deposition. Methods: We enrolled 252 participants from a hospital memory clinic (47 cognitively unimpaired [CU], 116 amnestic mild cognitive impairment, and 89 dementia). Participants completed CIST, K-MMSE-2, the Seoul Neuropsychological Screening Battery, 2nd edition (SNSB-II), and underwent amyloid positron emission tomography. To evaluate the convergent and discriminant validity of CIST, we conducted correlation analyses with SNSBII. Receiver operating characteristic analyses were used to evaluate the ability to discriminate cognitive impairment and to distinguish amyloid positivity. Areas under the curve (AUCs) for CIST and K-MMSE-2 were compared using DeLong’s test. Results: The total score of CIST correlated significantly with all SNSB-II subtests, and the domain scores of CIST showed stronger associations with corresponding SNSB-II subtests than with unrelated ones. Both CIST and K-MMSE-2 effectively distinguished cognitively impaired individuals from CU, with CIST demonstrating superior discrimination (AUC=0.926 vs.0.887, p=0.042). In the non-demented group, both CIST and K-MMSE-2 showed acceptable discrimination for amyloid positivity (AUC≈0.73), with high specificity but low sensitivity;however, there were no significant differences between the two tests. Conclusions The CIST demonstrated strong validity and discriminatory ability for detecting cognitive impairment. It also showed acceptable discrimination for amyloid positivity in non-demented participants, supporting its utility as a screening tool in both clinical and community settings.

The brain houses vital hormonal regulatory structures such as the hypothalamus and pituitary gland, which may confer unique susceptibilities to critical illness-related corticosteroid insufficiency (CIRCI) in patients with neurological disorders. In addition, the frequent use of steroids for therapeutic purposes in various neurological conditions may lead to the development of steroid insufficiency. This abstract aims to highlight the significance of understanding these relationships in the context of patient care and management for physicians. Neurological disorders may predispose patients to CIRCI due to the role of the brain in hormonal regulation. Early recognition of CIRCI in the context of neurological diseases is essential to ensure prompt and appropriate intervention. Moreover, the frequent use of steroids for treating neurological conditions can contribute to the development of steroid insufficiency, further complicating the clinical picture. Physicians must be aware of these unique interactions and be prepared to evaluate and manage patients with CIRCI and steroid insufficiency in the context of neurological disorders. This includes timely diagnosis, appropriate steroid administration, and careful monitoring for potential adverse effects. A comprehensive understanding of the interplay between neurological disease, CIRCI, and steroid insufficiency is critical for optimizing patient care and outcomes in this complex patient population.

Purpose: The advances in the treatment of retinoblastoma have enabled salvaging the globe in advanced stages with intra-arterial chemotherapy (IAC). We developed a strategy of alternate application of systemic intravenous chemotherapy (IVC) and IAC (referred to as alternate systemic IVC and IAC; ASIAC) to reduce central nervous metastases during IAC and examined its efficacy and safety in eye globe salvage in this study. Materials and Methods: Between January 2010 and February 2021, 43 eyes of 40 patients received ASIAC treatment for retinoblastoma at the Yonsei Cancer Center, Yonsei University Health System. Their medical records were reviewed retrospectively to evaluate the eye salvage rate (ESR), defined from diagnosis to enucleation. High-risk retinoblastoma was defined as group D or E by the International Classification of Retinoblastoma. Results: The study enrolled 38 and five cases of high-risk and low-risk retinoblastoma, respectively. In total, 178 IAC and 410 IVC courses were administered, with a median of 4 (interquartile range [IQR], 3.0 to 5.0) IAC and 9 (IQR, 6.0 to 11) IVC courses per eye, respectively. The 5-year ESR was 60.4%±8.7% for the whole cohort, 100% for low-risk retinoblastoma, and 53.6%±9.8% for high-risk retinoblastoma. Among those diagnosed since 2015, the 5-year ESR for high-risk retinoblastoma was 63.5%±14.0%. Fifteen eyes underwent enucleation; no viable tumor was found in three enucleated eyes. There were no deaths in this cohort. Conclusion Primary IAC-IVC (i.e., ASIAC) for patients with retinoblastoma was tolerable and effective in salvaging the eye and maintaining survival.

Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately 30 cases have been reported in English literature. This paper is unique in that it is the first paper to report a lethal form of prenatal-type infantile cortical hyperostosis diagnosed in South Korea. Born at gestational age of 27 weeks and 4 days, the patient had typical features of polyhydramnios, anasarca, hyperostosis of multiple bones, micrognathia, pulmonary hypoplasia, and hepatomegaly. The patient was hypotonic, and due to pulmonary hypoplasia and persistent pulmonary hypertension, had to be supported with high frequency ventilation throughout the entire hospital course. Due to the disease entity itself, as well as prolonged parenteral nutrition, liver failure progressed, and the patient expired on day 38 when uncontrolled septic shock was superimposed. The chromosome karyotype of the patient was normal, 46, XX, and COL1A1 gene mutation was not detected.
Edema ; Ethnic Groups ; Gestational Age ; Hepatomegaly ; High-Frequency Ventilation ; Humans ; Hyperostosis ; Hyperostosis, Cortical, Congenital ; Hypertension, Pulmonary ; Infant, Newborn ; Infant, Premature ; Karyotype ; Korea ; Liver Failure ; Micrognathism ; Parenteral Nutrition ; Polyhydramnios ; Shock, Septic

Early detection and proper management of kidney rejection are crucial for the long-term health of a transplant recipient. Recipients are normally monitored by serum creatinine measurement and sometimes with graft biopsies. Donor-derived cell-free deoxyribonucleic acid (cfDNA) in the recipient's plasma and/or urine may be a better indicator of acute rejection. We evaluated digital PCR (dPCR) as a system for monitoring graft status using single nucleotide polymorphism (SNP)-based detection of donor DNA in plasma or urine. We compared the detection abilities of the QX200, RainDrop, and QuantStudio 3D dPCR systems. The QX200 was the most accurate and sensitive. Plasma and/or urine samples were isolated from 34 kidney recipients at multiple time points after transplantation, and analyzed by dPCR using the QX200. We found that donor DNA was almost undetectable in plasma DNA samples, whereas a high percentage of donor DNA was measured in urine DNA samples, indicating that urine is a good source of cfDNA for patient monitoring. We found that at least 24% of the highly polymorphic SNPs used to identify individuals could also identify donor cfDNA in transplant patient samples. Our results further showed that autosomal, sex-specific, and mitochondrial SNPs were suitable markers for identifying donor cfDNA. Finally, we found that donor-derived cfDNA measurement by dPCR was not sufficient to predict a patient's clinical condition. Our results indicate that donor-derived cfDNA is not an accurate predictor of kidney status in kidney transplant patients.
Biopsy ; Creatinine ; DNA ; Humans ; Kidney Transplantation* ; Kidney* ; Monitoring, Physiologic ; Plasma ; Polymerase Chain Reaction* ; Polymorphism, Single Nucleotide ; Tissue Donors ; Transplant Recipients ; Transplants