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Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic.
Neurology
February 2025
Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, the Netherlands.
Background And Objectives: Identifying genetic causes of dementia in patients visiting memory clinics is important for patient care and family planning. Traditional clinical selection criteria for genetic testing may miss carriers of pathogenic variants in dementia-related genes. This study aimed identify how many carriers we are missing and to optimize criteria for selecting patients for genetic counseling in memory clinics.
View Article and Find Full Text PDFGeneralized functional varying-index coefficient model for dynamic synergistic gene-environment interactions with binary longitudinal traits.
PLoS One
January 2025
Department of Statistics and Probability, Michigan State University, East Lansing, MI, United States of America.
The genetic basis of complex traits involves the function of many genes with small effects as well as complex gene-gene and gene-environment interactions. As one of the major players in complex diseases, the role of gene-environment interactions has been increasingly recognized. Motivated by epidemiology studies to evaluate the joint effect of environmental mixtures, we developed a functional varying-index coefficient model (FVICM) to assess the combined effect of environmental mixtures and their interactions with genes, under a longitudinal design with quantitative traits.
View Article and Find Full Text PDFVaccine-Induced Immune Thrombotic Thrombocytopenia Caused by Zoetis PR-VAC PLUS in Pseudorabies Virus-Free Danish Purebred Pigs.
Vet Med Sci
March 2025
Department of Veterinary Medicine, National Chiayi University, Chiayi City, Taiwan.
This case report highlights a potential vaccine safety concern associated with the Pseudorabies virus (PRV) live vaccine, which warrants further investigation for comprehensive understanding. Vaccine-induced immune thrombotic thrombocytopenia (VITT), a novel syndrome of adverse events following adenovirus vector COVID-19 vaccines, was observed after vaccination with Zoetis PR-VAC PLUS. This led to a 100% morbidity and high mortality among PRV-free Danish purebred pigs from Danish Genetics Co.
View Article and Find Full Text PDFAn augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance.
Hum Genet
January 2025
TCS Research, Tata Consultancy Services, Hyderabad, India.
Variants of uncertain significance (VUS) represent variants that lack sufficient evidence to be confidently associated with a disease, thus posing a challenge in the interpretation of genetic testing results. Here we report an improved method for predicting the VUS of Arylsulfatase A (ARSA) gene as part of the Critical Assessment of Genome Interpretation challenge (CAGI6). Our method uses a transfer learning approach that leverages a pre-trained protein language model to predict the impact of mutations on the activity of the ARSA enzyme, whose deficiency is known to cause a rare genetic disorder, metachromatic leukodystrophy.
View Article and Find Full Text PDFCiliary Body Medulloepithelioma: Clinical and Pathologic Challenges with a Focus on Molecular Genetics.
Semin Ophthalmol
January 2025
Department of Ophthalmology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
Objective: Ciliary body medulloepithelioma (CBME), a pediatric intraocular tumor with potential for locally aggressive behavior and metastasis, may present with a diverse spectrum of clinical and histopathologic features leading to diagnostic and management challenges. Examination of unusual CBME cases highlights challenges and modern diagnostic techniques which facilitate accurate diagnosis and guide management.
Methods: A retrospective clinicopathologic analysis of 6 patients with unusual clinical or pathologic features of CBME was performed.
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