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

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

Chronic Endometritis in Subfertile Mares With Presence of Chlamydial DNA

When endometritis becomes chronic in mares, infertility can follow. Among various causative agents, many bacteria are involved, and mono- or mixed-infections are common. In our study, 50 mares with a previous history of subfertility were subjected to clinical and ultrasonographic examination of the reproductive tract, and samples were collected for cytology, histology, bacteriology, and polymerase chain reaction for Chlamydia spp detection. The aim of this work was to highlight the presence of Chlamydia abortus in chronic endometritis of subfertile mares. Endometrial chronic lesions were detected in five of six Chlamydia-positive animals

Population genetic data for 17 Y STR markers from Benghazi (East Libya)

The seventeen Y-STR loci included in the AmpF‘STR1 YfilerTM PCR Amplification kit (DYS19, DYS389I,DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS438, DYS439, DYS437, DYS448, DYS458,DYS456, DYS635, and Y-GATA-H4) were used to type a sample population of 238 males from eastern Libya (Benghazi region). Of 238 observed haplotypes, 214 were unique (90%) and 24 (10%) were found more than once. The 17 loci gave a discriminating power of 0.999. DYS458 showed the highest diversity as a single-locus marker (0.73). Allelic frequencies and gene diversities for each Y-STR locus were determined. The high haplotype diversity and discrimination capacity (0.996) demonstrate the utility of these loci for human identification in forensic applications. Comparative analysis with Y-STR datasets of relevant populations and submission of the haplotypes to the Y-STR Haplotype Reference Database (YHRD) was undertaken

TAS2R38 bitter taste genotype is associated with complementary feeding behavior in infants

Background: Genetically mediated sensitivity to bitter taste has been associated with food preferences and eating behavior in adults and children. The aim of this study was to assess the association between TAS2R38 bitter taste genotype and the first complementary food acceptance in infants. Parents of healthy, breastfed, term-born infants were instructed, at discharge from the nursery, to feed their baby with a first complementary meal of 150 mL at 4 to 6 months of age. They recorded the day when the child ate the whole meal in a questionnaire. Additional data included food composition, breastfeeding duration, feeding practices, and growth at 6 months. Infants' TAS2R38 genotypes were determined at birth, and infants were classified as "bitter-insensitive" (genotype AVI/AVI) and "bitter-sensitive" (genotypes AVI/PAV or PAV/PAV). Results: One hundred seventy-six infants and their mothers were enrolled; completed data were available for 131/176 (74.4%) infants (gestational age 39.3 \ub1 1.1 weeks, birth weight 3390 \ub1 430 g). Bitter-insensitive were 45/131 (34.3%), and bitter-sensitive were 86/131 (65.6%). Thirty-one percent of bitter-insensitive infants consumed the whole complementary meal at first attempt, versus 13% of bitter-sensitive ones (p = 0.006). This difference was significant independently of confounding variables such as sex, breastfeeding, or foods used in the meal. Growth at 6 months did not differ between the two groups. Conclusions: Differences in TAS2R38 bitter taste gene were associated with acceptance of the first complementary food in infants, suggesting a possible involvement in eating behavior at weaning

2D Cu-TCNQ Metal-Organic Networks Induced by Surface Alloying

We have studied the self-assembly of 7,7,8,8-tetracyanoquinodimethane molecules on the (3√2 × √2)R45° reconstruction of the SnCu(001) surface alloy by means of X-ray photoemission spectroscopy, scanning tunneling microscopy, near-edge X-ray absorption fine structure spectroscopy, and density functional theory calculations. Our results show that surface alloying strongly attenuates the chemical interaction of the molecule with the surface, but it does not inhibit the charge transfer from the substrate to the molecules. The assembly mechanism of the molecules is completely modified with respect to the bare Cu(001) surface. We show that, on the SnCu(100) surface alloy, the strong CN-Cu interaction drives the formation of different coordination structures with native Cu adatoms. We found that the flexible coordination chemistry of Cu allows the formation of three different stable phases, each one with the Cu ions in a different coordination geometry (coordinations 4, 3, and 2). Moreover, we show that both the formation of lateral H bonds between adjacent molecules and the interaction of the Cu ion with the substrate play determinant roles in the stabilization of the structures.Fil: Fuhr, Javier Daniel. Universidad Nacional de Cuyo; Argentina. Comisión Nacional de Energía Atómica. Centro Atómico Bariloche; Argentina. Comisión Nacional de Energía Atómica. Gerencia del Área de Energía Nuclear. Instituto Balseiro; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Robino, L.I.. Universidad Nacional de Cuyo; Argentina. Comisión Nacional de Energía Atómica. Gerencia del Área de Energía Nuclear. Instituto Balseiro; ArgentinaFil: Rodríguez, L.M.. Comisión Nacional de Energía Atómica. Centro Atómico Bariloche; ArgentinaFil: Verdini, A.. No especifíca;Fil: Floreano, L.. No especifíca;Fil: Ascolani, Hugo del Lujan. Comisión Nacional de Energía Atómica. Centro Atómico Bariloche; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Unidad Ejecutora Instituto de Nanociencia y Nanotecnología. Unidad Ejecutora Instituto de Nanociencia y Nanotecnología - Nodo Bariloche | Comisión Nacional de Energía Atómica. Unidad Ejecutora Instituto de Nanociencia y Nanotecnología. Unidad Ejecutora Instituto de Nanociencia y Nanotecnología - Nodo Bariloche; ArgentinaFil: Gayone, Julio Esteban. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Unidad Ejecutora Instituto de Nanociencia y Nanotecnología. Unidad Ejecutora Instituto de Nanociencia y Nanotecnología - Nodo Bariloche | Comisión Nacional de Energía Atómica. Unidad Ejecutora Instituto de Nanociencia y Nanotecnología. Unidad Ejecutora Instituto de Nanociencia y Nanotecnología - Nodo Bariloche; Argentina. Comisión Nacional de Energía Atómica. Gerencia del Área de Energía Nuclear. Instituto Balseiro; Argentin

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

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

Analysis of the antibiotic resistance profiles in methicillin-sensitive s. Aureus pathotypes isolated on a commercial rabbit farm in Italy

The breeding of meat rabbits is an important sector in the livestock industry in Italy. The focus of this study was to describe the antibiotic resistance profile distribution among the Methicillin-sensitive Staphylococcus aureus isolated in a rabbit farm. From 400 animals of different ages and three farm workers, 96 randomly selected strains isolated from various anatomical sites and lesions were analysed. According to spa typing and the resistance profiles towards veterinary and human antibiotics, 26 pathotypes were identified. The highest resistance was observed against Tetracyclines (92.3%) and Macrolides (80.8%), while almost all were susceptible to Penicillins, according to the limited use of β-lactams on the farm. In total, 92.3% of pathotypes were multidrug resistant (MDRs). Two MDR pathotypes belonging to the t2802 spa type were isolated from both farmers and rabbits. Age categories harboured significantly different pathotypes (p = 0.019), while no association was found between pathotypes and lesions (p = 0.128) or sampling sites (p = 0.491). The antibiotic resistance was observed to increase with the time spent in the farm environment (age category). The selective pressure exerted by antibiotic use acted by giving advantage to more resistant strains rather than by lowering susceptibility to various drug categories within strains

Assessment of the Precision ID Identity Panel kit on challenging forensic samples

The performance of the Precision ID Identity Panel (Thermo Fisher Scientific) was assessed on a set of 87 forensic samples with different levels of degradation for which a reference sample from the \u201csame donor\u201d or from a \u201cfirst degree relative\u201d was available. PCR-MPS analysis was performed with DNA input ranging from 1 ng to 12 pg and through 21-26 PCR cycles, in replicate tests, and a total number of 255 libraries were sequenced on the Ion Personal Genome Machine\u2122 (PGM\u2122) System. The evaluation of the molecular data allowed to set a fix threshold for locus call at 50 x which suitably worked even when low amounts of degraded DNA (12 pg) were investigated. In these analytical conditions, in fact, 25 PCR cycles allowed the genotyping of about 50% and 35% of the autosomal and the Y-specific markers on average, respectively, for each single amplification with a negligible frequency of drop ins (0.01 %). On the other hand, drop out artefacts reached 18-23% when low copy number and degraded DNA samples were studied, with surviving alleles showing more than 600 reads in 2.9 % of the cases. Our data pointed out that the Precision ID Identity Panel allowed accurate typing of almost any amount of good quality/moderately degraded DNA samples, in duplicate tests. The analysis of low copy number DNAs evidenced that the same allele of a heterozygous genotype could be lost twice, thus suggesting that a third amplification could be useful for a correct genotype assignment in these peculiar cases. Using the consensus approach, a limited number of genotyping errors were computed and about 37% of the autosomal markers was finally typed with a corresponding combined random match probability of at least 1.6 x 10-13, which can be considered an excellent result for this kind of challenging samples. In the end, the results presented in this study emphasize the crucial role of the expert opinion in the correct evaluation of artefacts arising from PCR-MPS technology that could potentially lead to genetic mistyping

Dilatometry in the Gleeble: What did you really measure?

The Gleeble is an oft-used tool for welding metallurgy research. Besides producing synthetic weld specimens, it is used to determine phase transformation temperatures and kinetics via dilatometry. Experimental data and an FEM model are used to examine measured dilatation errors because of non-uniform heating of the dilatometer and other sources such as sample elastic and plastic deformation. Both isothermal and constant heating/cooling rate scenarios are considered. Further errors which may be introduced when the dilatation is incorrectly assumed to be linearly related to the volume fraction transformed are also discussed