450 research outputs found

    Privacy and ethical challenges of the Amelogenin sex test in forensic paternity/kinship analysis: Insights from a 13-year case history

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    The Amelogenin sex test included in forensic DNA typing kits has the potential to identify congenital conditions such as differences/disorders of sex development (DSD). It can also reveal mismatches between genotypic sex and gender marker in identity documents of transgender persons who obtained legal gender recognition. In a 13-year case history of paternity/kinship tests, involving n = 962 females and n = 1001 males, two mismatches between Amelogenin sex test (male) and gender marker (female), and three cases of chromosomal DSD (Klinefelter syndrome) were observed. The concrete risk of observing Amelogenin anomalies, their potential causes, and the context in which they occur (forensic, i.e. non-medical) mean that laboratory operators are called to strike a complex balance between privacy interests and individual health rights when providing preliminary information and reporting Amelogenin incidental findings. This case history argues for the need of a more responsible approach towards the Amelogenin sex test in the forensic community

    Detecting expert’s eye using a multiple-kernel Relevance Vector Machine

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    Decoding mental states from the pattern of neural activity or overt behavior is an intensely pursued goal. Here we applied machine learning to detect expertise from the oculomotor behavior of novice and expert billiard players during free viewing of a filmed billiard match with no specific task, and in a dynamic trajectory prediction task involving ad-hoc, occluded billiard shots. We have adopted a ground framework for feature space fusion and a Bayesian sparse classifier, namely, a Relevance Vector Machine. By testing different combinations of simple oculomotor features (gaze shifts amplitude and direction, and fixation duration), we could classify on an individual basis which group - novice or expert - the observers belonged to with an accuracy of 82% and 87%, respectively for the match and the shots. These results provide evidence that, at least in the particular domain of billiard sport, a signature of expertise is hidden in very basic aspects of oculomotor behavior, and that expertise can be detected at the individual level both with ad-hoc testing conditions and under naturalistic conditions - and suitable data mining. Our procedure paves the way for the development of a test for the \u201cexpert\u2019s eye\u201d, and promotes the use of eye movements as an additional signal source in Brain-Computer-Interface (BCI) systems

    LTF and DEFB1 polymorphisms are associated with susceptibility toward chronic periodontitis development

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    Objectives: Chronic periodontitis is a common pathological condition that affects the supporting tissue of the teeth, leading to progressive alveolar bone destruction and teeth loss. The disease is caused by bacteria and derives from an altered host immune and inflammatory response, also involving different factors such as the oral hygiene, smoking, and genetic background. The innate immune response, the first line of host defense, could also play an important role in the susceptibility to chronic periodontitis. In this study, we evaluated the possible association between periodontal disease and seven genetic variations within DEFB1 and LTF genes, encoding for \u3b2-defensins 1 and lactoferrin (two members of oral innate immune system), in an Italian isolated population. Subjects and Methods: DEFB1 5\u2032UTR g. -52G>A (rs1799946), g. -44C>G (rs1800972), g. -20G>A (rs11362), 3\u2032UTR c*5G>A (rs1047031), c*87A>G (rs1800971), LTF p.Ala29Thr (rs1126477), and p.Lys47Arg (rs1126478) single nucleotide polymor- phisms (SNPs) were analyzed in 155 healthy individuals and 439 chronic periodontitis patients from North-East Italy. Results: Significant associations were found between periodontitis and g. -20G>A (rs11362) and g. -44C>G (rs1800972) SNPs in DEFB1 gene as well as p.Ala29Thr (rs1126477) and p.Lys47Arg (rs1126478) SNPs in LTF gene. Discussion: Our results suggest the involvement of DEFB1 and LTF genetic variations in the susceptibility toward development of periodontitis
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