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ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype.
Invest Ophthalmol Vis Sci
January 2025
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China.
Purpose: The purpose of this study was to investigate the contribution and natural progression of ABCA4 deep intronic variants (DIVs) among a Chinese Stargardt disease (STGD) cohort.
Methods: For unsolved STGD probands, DIVs in ABCA4 were detected by next-generation sequencing, and splicing effects were evaluated by in silico tools and validated through minigene experiments. Comprehensive ocular examinations, especially fundus changes, were carried out and analyzed.
Long-Term Intracranial Progression-Free Survival in Lung Cancer Brain Metastases Extended Beyond 50 Months with Gubenxiaoyi Formula (GBXY): A Groundbreaking Case Study.
Integr Cancer Ther
January 2025
Department of Oncology, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, Beijing, China.
Background: The prevalence of brain metastases (BM) in lung cancer patients is notably high and is associated with poor prognoses. The efficacy of standard treatment regimens in improving intracranial progression-free survival (IPFS) for lung cancer BM is markedly limited. While traditional Chinese medicine (TCM) has been effective in enhancing the quality of life and prognosis of lung cancer patients, its efficacy in treating BM remains unreported.
View Article and Find Full Text PDFUltrasound B-Scan for Posterior Segment and Extraocular Evaluation in Ocular Cysticercosis.
Clin Ophthalmol
January 2025
University Eye Clinic Maastricht, Maastricht, The Netherlands.
Purpose: Cysticercosis, caused by Taenia solium larvae, can affect various ocular and extraocular structures, leading to significant morbidity. Ultrasound B-scan imaging plays a pivotal role in diagnosing and classifying cysticercosis lesions. The aim of the study was to describe the ultrasound B-scan characteristics of ocular and extraocular cysticercosis, proposing a classification system based on anatomical localization to enhance understanding and management.
View Article and Find Full Text PDFEvaluation of Artificial Intelligence: Computer-aided Detection of Colorectal Polyps.
J Anus Rectum Colon
January 2025
Department of Endoscopy, Fukuoka University Chikushi Hospital, Chikushino, Japan.
Objectives: Colonoscopy is the gold standard for screening cancer and precancerous lesions in the large intestine. Recently, remarkable advances in artificial intelligence (AI) have led to the development of various computer-aided detection (CADe) systems for colonoscopy. This study aimed to evaluate the usefulness of AI for colonoscopy using CAD-EYE (Fujifilm, Tokyo, Japan) to calculate the adenoma miss rate (AMR).
View Article and Find Full Text PDFOlder cerebral small vessel disease and sleep disturbance: A diffusion tensor imaging study.
Sleep Med
January 2025
Department of Neurology, Second Hospital of Tianjin Medical University, Tianjin, 300211, China. Electronic address:
Objective: This study examined the relationship between diffusion tensor imaging indicators and brain network characteristics in patients with cerebral small vessel disease (CSVD) with (CSVD + S) and without (CSVD-S) sleep disturbance. We explored the feasibility of using these imaging biomarkers to investigate the pathophysiological mechanisms underlying sleep disturbance in patients with CSVD.
Methods: A total of 146 patients with CSVD and 84 healthy controls were included.
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