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Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility.
Elife
January 2025
Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes.
View Article and Find Full Text PDFAn Uncommon Presentation of Tumid Lupus Erythematosus Manifesting As Annular, Non-scarring Alopecia on the Scalp.
Cureus
January 2025
Dermatology and Dermatologic Surgery, Prince Sultan Military Medical City, Riyadh, SAU.
Tumid lupus erythematosus (TLE) is a rare subtype of cutaneous lupus, which can present diagnostic challenges due to its overlapping features with other skin disorders. Understanding the clinical and histopathological characteristics of TLE is essential for accurate diagnosis and management. In this article, we describe a case of TLE in a 45-year-old man who presented with annular, urticarial, non-scarring plaques on the scalp associated with non-scarring alopecia in the affected area.
View Article and Find Full Text PDFRapid and automated interpretation of CRISPR-Cas13-based lateral flow assay test results using machine learning.
Sens Diagn
December 2024
Department of Bioengineering, Rice University Houston TX 77030 USA
CRISPR-Cas-based lateral flow assays (LFAs) have emerged as a promising diagnostic tool for ultrasensitive detection of nucleic acids, offering improved speed, simplicity and cost-effectiveness compared to polymerase chain reaction (PCR)-based assays. However, visual interpretation of CRISPR-Cas-based LFA test results is prone to human error, potentially leading to false-positive or false-negative outcomes when analyzing test/control lines. To address this limitation, we have developed two neural network models: one based on a fully convolutional neural network and the other on a lightweight mobile-optimized neural network for automated interpretation of CRISPR-Cas-based LFA test results.
View Article and Find Full Text PDFUsefulness of polymerase chain reaction tests in Chagas disease studies.
Front Parasitol
February 2024
National Reference Center for Parasitology, Research Institute of the McGill University Center, Montreal, QC, Canada.
The Polymerase Chain Reaction (PCR) test is a highly sensitive, specific, and rapid diagnostic tool for Chagas disease. Chagas disease is caused by the protozoan flagellate and is endemic to the Americas. While conventional serological methods are still used in the diagnosis of Chagas disease, they are being gradually replaced by molecular methods like PCR.
View Article and Find Full Text PDFDevelopment of a rapid and highly sensitive nucleic acid-based diagnostic test for schistosomes, leveraging on identical multi-repeat sequences.
Front Parasitol
March 2024
Center for Research in Infectious Diseases, College of Graduate Studies and Research, Mount Kenya University, Thika, Kenya.
Introduction: Schistosomiasis (Bilharzia), a neglected tropical disease caused by parasites, afflicts over 240 million people globally, disproportionately impacting Sub-Saharan Africa. Current diagnostic tests, despite their utility, suffer from limitations like low sensitivity. Polymerase chain reaction (PCR) and quantitative real-time PCR (qPCR) remain the most common and sensitive nucleic acid amplification tests.
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