Background: The techniques for detecting single nucleotide polymorphisms (SNP) require lengthy and complex experimental procedures and expensive instruments that may only be available in some laboratories. Thus, a deoxyribonucleic acid (DNA)-based lateral flow assay (LFA) was developed as a point-of-care test (POCT) diagnostic tool for genotyping. In this study, single nucleotide variation (E101K) in the low-density lipoprotein receptor gene leading to familial hypercholesterolemia (FH) was chosen as a model.
View Article and Find Full Text PDFJ Eur Acad Dermatol Venereol
January 2023
Case Rep Dermatol Med
August 2020
Biologic treatments have revolutionised the management of psoriasis in recent years; however, data on their safety profile in large populations and long-term effects are being gathered on an ongoing basis. Ustekinumab is a monoclonal antibody that targets interleukin-12/23 used in the treatment of moderate-to-severe psoriasis. Here, we report the case of a 32-year-old Caucasian gentleman who developed thyrotoxicosis following the commencement of ustekinumab treatment.
View Article and Find Full Text PDFShort repetitive regions in autosomal and Y chromosomes known as short tandem repeats (STRs) are currently used for DNA profiling in crime investigations. However, DNA profiling requires a sufficient quality and quantity of DNA template, which is often not obtained from trace evidence or degraded biological samples collected at the scene of a crime. Here, we assessed autosomal and male DNA components extracted from crime scene and mock casework samples using the Casework Direct Kit, Custom and compared the results against those obtained by extraction of matching samples using well-established Maxwell 16 System DNA IQ Casework Pro Kit.
View Article and Find Full Text PDFJ Eur Acad Dermatol Venereol
August 2018