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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.
Characterization of LTBP2 mutation causing mitral valve prolapse.
Eur Heart J Open
January 2025
Department of Medicine, Cardiovascular Precision Medicine Center, Hadassah Hebrew University Medical Center, P.O. Box 12000, 9112001 Jerusalem, Israel.
Aims: Mitral valve prolapse (MVP) is a common valvular disorder associated with significant morbidity and mortality, with a strong genetic basis. This study aimed to identify a mutation in a family with MVP and to characterize the valve phenotype in LTBP2 knockout (KO) mice.
Methods And Results: Exome sequencing and segregation analysis were performed on a large family with MVP.
Case report: Successful treatment with spesolimab of acrodermatitis continua of Hallopeau in an older patient without mutations.
Front Immunol
January 2025
Department of Dermatology, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Institue of Psoriasis, Tongji University School of Medicine, Shanghai, China.
Background: Acrodermatitis continua of Hallopeau (ACH) is a rare, sterile pustular psoriasis variant refractory to many conventional treatments. The eruption typically occurs after local trauma or infection; other etiologies include neural, inflammatory, and genetic causes. Herein we reported a single case of a 64-year-old patient with ACH that was successfully treated with spesolimab for 19 weeks.
View Article and Find Full Text PDFRefractory Psychosis as a Red Flag for End of Life in Individuals With Dementia With Lewy Bodies: A Case Series and Re-analysis of Prior Qualitative Data.
Alzheimer Dis Assoc Disord
January 2025
Department of Psychiatry, University of Michigan, Ann Arbor, MI.
Objectives: Many individuals with dementia with Lewy bodies (DLB) die of disease-related complications, but predicting the end of life can be challenging. We identified a phenotype associated with approaching end of life.
Methods: We present 4 exemplar cases where individuals with DLB experienced refractory psychosis before death.
The whole life cycle myopia management.
Asia Pac J Ophthalmol (Phila)
January 2025
Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China. Electronic address:
Myopia stands as a prevalent ocular condition with global implications, impacting individuals at various life stages. In school-age children and adolescents, uncorrected myopia impedes reading and academic performance. Among middle-aged and elderly populations, myopia poses severe risks such as macular degeneration, macular holes and retinal detachment, leading to irreversible visual impairment.
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