55 research outputs found
Genetic variation at 5 new autosomal short tandem repeat markers (D10S1248, D22S1045, D2S441, D1S1656, D12S391) in a population-based sample from Maghreb region
Aim. To investigate allele distribution and genetic parameters
of a population-based sample from Maghreb region.
Methods. Allele frequencies for 5 new autosomal short tandem
repeat (STR) markers (D10S1248, D22S1045, D2S441,
D1S1656, and D12S391) and several forensic parameters
were determined for 95 unrelated individuals.
Results. The combined power of discrimination and power
of exclusion for the 5 loci were high (0.9999991 and
0.9954757, respectively). Allele frequencies were compared
with previously published population data. Significant differences
were found between Maghreb population and all
other populations at the locus D2S441. Also, significant differences
were found between the Maghreb and the African
American population at the D22S1045, D1S1656, and
D12S391 loci, between Maghreb and Caucasian population
at the D1S1656 locus, and between Maghreb and Hispanic
population at the D22S1045 locus.
Conclusions. Typing of the 5 new STR loci may provide a
useful addition to the previously established sets of autosomal
STRs
Perinatal asphyxia and medical professional liability: A case series
Abstract In the context of medical professional liability, obstetrics is one of the most involved medical specialties because the unfavorable outcome of a pregnancy is difficult to accept for parents, who tend to reduce it to inappropriate care that occurred during pregnancy or birth. 32 cases of perinatal asphyxia were evaluated by the Institute of Forensic Medicine in Brescia during the period between 1999 and 2014 (13 in Civil Court and 19 in Penal Court). 9 out of the 32 pregnancies were twins, so the considerations were carried out on a total of 41 fetuses/newborns. Profiles of inadequacy were identified in 66% of cases (85% of the cases evaluated in Civil Court; 53% of the cases evaluated in Penal Court). The existence of a causal relationship between the medical conduct and the onset of asphyxia was recognized in 79% of civil cases and in 38% of penal cases. There is a "greater rigor" in the verification of causal relationship and malpractice profiles in penal cases compared to civil ones: this is in harmony with the most recent Italian Court decisions, characterized by compelling suspect's protection in the presence of a reasonable doubt in criminal matters and by victim's protection in civil ones
Standard of care and guidelines in prevention and diagnosis of venous thromboembolism: medico-legal implications
Concerning recent Italian laws and jurisprudential statements, guidelines application involves several difficulties in clinical practice, regarding prevention, diagnosis and therapy of venous thromboembolism. International scientific community systematically developed statements about this disease in order to optimize the available resources in prophylaxis, diagnosis and therapy. Incongruous prevention, missed or delayed diagnosis and/or inadequate treatment of this disease can frequently give rise to medico-legal litigation
PowerPlex® Fusion 6C System: evaluation study for analysis of casework and database samples
Aim To report on the successful analysis of amplicons obtained with PowerPlex® Fusion 6C System, a highly robust 27-plex genotyping kit developed for human identification laboratories, on the Applied Biosystems® 3500 Genetic Analyzer.
Method We performed characterization and evaluation studies following the Scientific Working Group on DNA Analysis Methods (SWGDAM) validation guidelines, examining several critical areas of kit performance. We report the results of sensitivity, robustness, heterozygous peak height ratio, precision, concordance, caseworks, and mixture interpretations. We tested sensitivity, using serial dilutions of control DNA.
Results The minimum amount of input DNA resulting in a full profile was 125 pg. Inhibition, inducted by urea, showsed a progressively fragmentation of DNA and a full profile was obtained until 1M of inhibitor factor. To test the profile quality, casework samples were extracted with different extraction methods: Chelex®100, QIAmp DNA Micro Kit and Phenol-Chloroform extraction. The results demonstrated that extraction chemistries do not have affect on amplification performance. Concordance check was performed by typing some casework samples and comparing the typing results with those obtained with other available kits. Thus, concordance was expected and supported by the data.
Conclusion Reliable DNA typing results can be obtained using this new kit, demonstrating its effectiveness and utility in forensic analysis
Y-chromosome polymorphisms and ethnic group – a combined STR and SNP approach in a population sample from northern Italy
Aim To find an association between Y chromosome polymorphisms
and some ethnic groups.
Methods Short tandem repeats (STR) and single-nucleotide
polymorphisms (SNP) on the Y chromosome were
typed in 311 unrelated men from four different ethnic
groups – Italians from northern Italy, Albanians, Africans
from the Maghreb region, and Indo-Pakistanis, using the
AmpFlSTR® Yfiler PCR Amplification Kit and the SNaPshot
Multiplex Kit.
Results STRs analysis found 299 different haplotypes and
SNPs analysis 11 different haplogroups. Haplotypes and
haplogroups were analyzed and compared between different
ethnic groups. Significant differences were found
among all the population groups, except between Italians
and Indo-Pakistanis and between Albanians and Indo-Pakistanis.
Conclusions Typing both STRs and SNPs on the Y chromosome
could become useful in determining ethnic origin of
a potential suspec
A global analysis of Y-chromosomal haplotype diversity for 23 STR loci
In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.Peer reviewe
Rib biomechanical properties exhibit diagnostic potential for accurate ageing in forensic investigations
Age estimation remains one of the most challenging tasks in forensic practice when establishing a biological profile of unknown skeletonised remains. Morphological methods based on developmental markers of bones can provide accurate age estimates at a young age, but become highly unreliable for ages over 35 when all developmental markers disappear. This study explores the changes in the biomechanical properties of bone tissue and matrix, which continue to change with age even after skeletal maturity, and their potential value for age estimation. As a proof of concept we investigated the relationship of 28 variables at the macroscopic and microscopic level in rib autopsy samples from 24 individuals. Stepwise regression analysis produced a number of equations one of which with seven variables showed an R2=0.949; a mean residual error of 2.13 yrs ±0.4 (SD) and a maximum residual error value of 2.88 yrs. For forensic purposes, by using only bench top machines in tests which can be carried out within 36 hrs, a set of just 3 variables produced an equation with an R2=0.902 a mean residual error of 3.38 yrs ±2.6 (SD) and a maximum observed residual error 9.26yrs. This method outstrips all existing age-at-death methods based on ribs, thus providing a novel lab based accurate tool in the forensic investigation of human remains. The present application is optimised for fresh (uncompromised by taphonomic conditions) remains, but the potential of the principle and method is vast once the trends of the biomechanical variables are established for other environmental conditions and circumstances
Medicina Legale in Pediatria
Collaborazione alla monografia "Medicina legale in Pediatria", F. De Ferrari, L.N. Notarangelo, Mediserve, Napoli, 200
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