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Introduction: Late diagnosis of hydroxychloroquine retinopathy remains a major concern, with the potential for irreversible visual impairment. This study aimed to investigate the causes of late diagnosis in a hospital-based cohort of Korean patients with hydroxychloroquine retinopathy and assess the trend of late diagnosis from 2015 to 2022.
Methods: Thirty-eight patients with a late diagnosis (severe stage at diagnosis) among 94 patients with hydroxychloroquine retinopathy were included in the analysis. The causes of late diagnosis were categorized as referral-related, patient-related, and screening-related factors.
Results: The most prevalent cause was no or late referral to ophthalmologists, contributing to a significant gap in timely identification. Patient-related causes included delayed monitoring visits despite scheduled appointments and early-onset disease. Screening-related causes encompassed an insufficient number of sensitive tests, leading to inadequate evidence for diagnosis, and missed or wrong diagnoses by screening physicians. The proportion of late diagnoses decreased over time, indicating improvements in overall screening and detection. The decreasing proportions of screening-related causes suggest advancements in screening practices and the use of multiple sensitive tests for screening.
Discussion: Efforts to further reduce late diagnoses and improve screening and diagnostic processes are necessary. Our data emphasize the importance of timely referral to ophthalmologists for early detection and management.
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http://dx.doi.org/10.3389/fmed.2023.1238226 | DOI Listing |
Zhong Nan Da Xue Xue Bao Yi Xue Ban
May 2025
Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha 410008.
Objectives: Patients with connective tissue diseases (CTD) have a high incidence of cardiac involvement, which often presents insidiously and can progress rapidly, making it one of the leading causes of death. Multiparametric cardiovascular magnetic resonance (CMR) provides a comprehensive quantitative evaluation of myocardial injury and is emerging as a valuable tool for detecting cardiac involvement in CTD. This study aims to investigate the correlations between CMR features and serological biomarkers in CTD patients, assess their potential clinical value, and further explore the impact of pre-CMR immunotherapy intensity on CMR-specific parameters, thereby evaluating the role of CMR in the early diagnosis of CTD-related cardiac involvement.
View Article and Find Full Text PDFKorean J Intern Med
September 2025
Hanyang University Institute for Rheumatology Research, Seoul, Korea.
Background/aims: To identify factors associated with achieving low disease activity (LDA) after 48 weeks of targeted therapy in patients with rheumatoid arthritis (RA) despite not meeting treat-to-target (T2T) criteria at week 24.
Methods: Data were collected from a multicenter, prospective observational cohort of Korea patients with RA receiving targeted therapy between April 2020 and July 2023. Patients who continued their initial targeted therapy despite not achieving LDA at week 24 were assigned to the LDA and non-LDA groups at week 48.
Biomed Pharmacother
September 2025
Liver Therapy & Evolution Team, In Vitro Toxicology and Dermato-Cosmetology (IVTD) Research Group, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Laarbeeklaan 103, Brussels B-1090, Belgium. Electronic address:
Phenylketonuria (PKU), an autosomal recessive disease caused by a deficiency in the phenylalanine-4-hydroxylase enzyme or its cofactor tetrahydrobiopterin, is characterized by excessive phenylalanine (Phe) and reduced tyrosine (Tyr) levels and typically manifests neurologically. Even early treated PKU patients with proper metabolic control, obtained immediately after birth upon diagnosis of the disease, show late-onset neurological complications. Although the disease has already been researched for over 90 years, the complexity of its neurological pathophysiology has only recently been unraveled.
View Article and Find Full Text PDFAm J Case Rep
September 2025
Department of Pediatrics, Southwest Healthcare Medical Education Consortium, Temecula, CA, USA.
BACKGROUND Morel-Lavallee lesions (MLLs) are uncommon, closed soft-tissue degloving injuries caused by high-energy trauma that are often missed due to their rarity and delayed presentation, resulting in serious complications. MLLs are particularly missed and underreported in pediatric and adolescent patients. We describe the case of an adolescent MLL occurring in an atypical lesion site at the calf to increase awareness of this diagnosis and associated presentation in this patient group, which can differ from adult presentation and contribute to diagnostic uncertainty that consequently impacts clinical decision-making.
View Article and Find Full Text PDFJ Pediatr Surg
September 2025
Division of Pediatric General and Thoracic Surgery, Seattle Children's Hospital, 4800 Sand Point Way NE, Ocean 9.A.220, Seattle, WA 98105, USA; Department of Surgery, University of Washington, 1959 Pacific Street, Box 356410, Seattle, WA 98195, USA.
Purpose: First rib fractures in children are typically associated with high-impact trauma; atraumatic etiologies remain understudied. The purpose of this study is to evaluate the presentation and management of pediatric first rib fractures in the absence of major trauma.
Methods: This is a retrospective study of pediatric patients diagnosed with first rib fractures between 2000-2023 at a quaternary, free-standing children's hospital.