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Safety and Vision Outcomes Following Gene Therapy for Bietti Crystalline Dystrophy: A Nonrandomized Clinical Trial.
JAMA Ophthalmol
January 2025
Xiamen Eye Center of Xiamen University, Xiamen, Fujian, China.
Importance: Bietti crystalline dystrophy (BCD) is a severe genetic retinopathy caused by variants in the CYP4V2 gene. Currently, there is no approved treatment for BCD.
Objective: To evaluate safety and vision outcomes following gene therapy with adeno-associated virus (AAV) encoding CYP4V2 (rAAV-hCYP4V2, NGGT001 [Next Generation Gene Therapeutics]).
Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.
JAMA Netw Open
December 2024
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.
Importance: Heterogeneity in development of estrogen receptor (ER)-specific first primary breast cancer exists due to deleterious germline variants in moderate- to high-penetrance breast cancer susceptibility genes, but it is unknown if these associations occur in ER-specific CBC.
Objective: To determine the association of deleterious germline variants in breast cancer susceptibility genes with ER-specific CBC development and whether ER status of the first primary breast cancer modifies these associations.
Design, Setting, And Participants: This case-control study included CBC cases and matched unilateral breast cancer controls from The Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study, a population-based case-control study.
Postoperative Outcomes in Condylar Hyperplasia: Proportional Condylectomy Versus Orthognathic Surgery.
J Craniofac Surg
January 2025
Department of Oral and Maxillofacial Surgery, Hebrew University, Hadassah, Jerusalem.
The management of patients with facial asymmetry caused by condylar hyperplasia remains a subject of ongoing debate. This study compared active patients with unilateral condylar hyperplasia (UCH) who underwent proportional condylectomy with ceased patients with UCH who underwent orthognathic surgery, evaluating esthetics, function, and satisfaction. The retrospective study included 2 groups: group A, with 15 active patients with UCH who underwent proportional condylectomy, and group B, with 22 ceased patients with UCH who underwent orthognathic surgery.
View Article and Find Full Text PDFKCNJ5 Somatic Mutations are Associated with Better Long-Term Outcomes in Patients with Unilateral Primary Aldosteronism.
J Clin Endocrinol Metab
January 2025
Department of Urology, National Taiwan University Hospital, Taipei, Taiwan.
Context: The association between KCNJ5 somatic mutations and long-term outcomes in patients with operated unilateral primary aldosteronism (uPA) is unclear.
Objective: To evaluate associations among KCNJ5 somatic mutations, clinical characteristics, incident long-term cardiovascular events, and all-cause mortality in uPA patients after adrenalectomy in a large longitudinal population study.
Methods: We enrolled uPA patients from the Taiwan Primary Aldosteronism Investigation database who had undergone adrenalectomy between 2013 and 2017 and followed them until 2020.
Biomarkers.
Alzheimers Dement
December 2024
Douglas Mental Health University Institute, Centre for Studies on the Prevention of Alzheimer's Disease (StoP-AD), Montréal, QC, Canada.
Background: Amyloid-negative tau-positive PET (A-T+) participants have been reported in several studies. We assessed the prevalence and characteristics of A-T+ participants in a cohort of cognitively unimpaired individuals with a first-degree family history of Alzheimer's disease (AD) dementia.
Method: We studied 252 participants from the longitudinal PREVENT-AD cohort (mean cognitive follow-up = 3.
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