This paper proposes a new sex classification method from patellae using a novel automated feature extraction technique. A dataset of 228 patellae (95 females and 133 males) was collected and CT scanned. After the CT data was segmented, a set of features was automatically extracted, normalized, and ranked. These features include geometric features, moments, principal axes, and principal components. A feature vector of 45 dimensions for each subject was then constructed. A set of statistical and supervised neural network classification methods were used to classify the patellar feature vectors according to sex. Different classification methods were compared. Classification success ranged from 83.77% average classification rate with labeling using fuzzy C-means method (FCM), to 90.3% for linear discriminant function (LDF) analysis. We obtained results of 96.02% and 93.51% training and testing classification rates (respectively) using feedforward backpropagation neural networks (NN). These promising results encourage the usage of this method in forensic anthropology for identifying the sex from incomplete skeletons containing at least one patella.
Xanthinuria is a clinically significant form of urolithiasis in cats with poor clinical outcomes and limited treatment options. In humans, xanthinuria has an autosomal recessive mode of inheritance, with variants in xanthine dehydrogenase (XDH) and molybdenum cofactor sulfurase (MOCOS) responsible for cases. While causative genetic variants have not been identified in the domestic cat, a recessive mode of inheritance has been suggested. DNA was extracted from EDTA-stabilised blood obtained from a Domestic Shorthair cat with clinically confirmed xanthinuria.Whole-genome sequencing and variant assessment in XDH and MOCOS identified XDH:c.2042C>T (XDH:p.(A681V)) as a candidate causative variant for xanthinuria in this cat. The variant is located in a highly conserved part of the molybdenum-pterin co-factor domain, responsible for catalysing the hydroxylation of hypoxanthine to xanthine and uric acid. Variants in this domain of XDH have been shown to disrupt enzyme function and to cause xanthinuria in other species. When assessed in the wider cat population, the variant had an allele frequency of 15.8%, with 0.9% of the animals assessed homozygous for the alternative allele. Cats diagnosed with xanthinuria should be tested for this variant to validate its clinical relevance in the wider population.
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