Blood, urine and vitreous isopropyl alcohol as biochemical markers in forensic investigations.

Isopropyl alcohol (IPA) is widely used as an industrial solvent and cleaning fluid. After ingestion or absorption, IPA is converted into acetone by alcohol dehydrogenase. However, in ketosis, acetone can be reduced to IPA. The aim of this study was to investigate blood IPA and acetone concentrations in a series of 400 medico-legal autopsies, including cases of diabetic ketoacidosis, hypothermia and alcohol misuse-related deaths, to illustrate the extent of ketosis at the time of death. Vitreous glucose, blood 3-β-hydroxybutyrate (3HB) and acetoacetate (AcAc) concentrations were also determined systematically. Additionally, vitreous and urine IPA, acetone, 3HB and AcAc concentrations as well as other biochemical markers, including glycated hemoglobin and carbohydrate-deficient transferrin (CDT) were also determined in selected cases. The results of this study indicate that ketosis is characterized by the presence of IPA resulting from the acetone metabolism and that IPA can be detected in several substrates. These findings confirm the importance of the systematic determination of IPA and acetone levels that is used to quantify biochemical disturbances and the importance of ketosis at the time of death.

Forensic examination of ink by high-performance thin layer chromatography - The United States Secret Service Digital Ink Library

Forensic examinations of ink have been performed since the beginning of the 20th century. Since the 1960s, the International Ink Library, maintained by the United States Secret Service, has supported those analyses. Until 2009, the search and identification of inks were essentially performed manually. This paper describes the results of a project designed to improve ink samples' analytical and search processes. The project focused on the development of improved standardization procedures to ensure the best possible reproducibility between analyses run on different HPTLC plates. The successful implementation of this new calibration method enabled the development of mathematical algorithms and of a software package to complement the existing ink library.

Directory of Familial Cancer Genetics Specialist Teams

The Directory of Familial Cancer Genetics Specialist Teams has been produced under the auspices of the Northern Ireland Regional Advisory Committee on Cancer. It contains details of the full membership of the clinical teams providing care in each of Health and Social Services Board Area. Lead Clinicians for Familial Cancer Genetics Service (PDF 58 KB) Eastern (PDF 68 KB) Northern (PDF 61 KB) Southern (PDF 62 KB) Western (PDF 11 KB) The Directory will be updated on an annual basis. Please e-mail amendments to:- irene.wilkinson@dhsspsni.gov.uk

Usefulness of postmortem biochemistry in forensic pathology: illustrative case reports.

The aim of this work is to present some practical, postmortem biochemistry applications to illustrate the usefulness of this discipline and reassert the importance of carrying out biochemical investigations as an integral part of the autopsy process. Five case reports are presented pertaining to diabetic ketoacidosis in an adult who was not known to suffer from diabetes and in presence of multiple psychotropic substances; fatal flecainide intoxication in a poor metabolizer also presenting an impaired renal function; diabetic ketoacidosis showing severe postmortem changes; primary aldosteronism presented with intracranial hemorrhage and hypothermia showing severe postmortem changes. The cases herein presented can be considered representative examples of the importance of postmortem biochemistry investigations, which may provide significant information useful in determining the cause of death in routine forensic casework or contribute to understanding the pathophysiological mechanisms involved in the death process.

New perspectives in the use of ink evidence in forensic science

Resume : L'utilisation de l'encre comme indice en sciences forensiques est décrite et encadrée par une littérature abondante, comprenant entre autres deux standards de l'American Society for Testing and Materials (ASTM). La grande majorité de cette littérature se préoccupe de l'analyse des caractéristiques physiques ou chimiques des encres. Les standards ASTM proposent quelques principes de base qui concernent la comparaison et l'interprétation de la valeur d'indice des encres en sciences forensiques. L'étude de cette littérature et plus particulièrement des standards ASTM, en ayant a l'esprit les développements intervenus dans le domaine de l'interprétation de l'indice forensique, montre qu'il existe un potentiel certain pour l'amélioration de l'utilisation de l'indice encre et de son impact dans l'enquête criminelle. Cette thèse propose d'interpréter l'indice encre en se basant sur le cadre défini par le théorème de Bayes. Cette proposition a nécessité le développement d'un système d'assurance qualité pour l'analyse et la comparaison d'échantillons d'encre. Ce système d'assurance qualité tire parti d'un cadre théorique nouvellement défini. La méthodologie qui est proposée dans ce travail a été testée de manière compréhensive, en tirant parti d'un set de données spécialement créer pour l'occasion et d'outils importés de la biométrie. Cette recherche répond de manière convaincante à un problème concret généralement rencontré en sciences forensiques. L'information fournie par le criminaliste, lors de l'examen de traces, est souvent bridée, car celui-ci essaie de répondre à la mauvaise question. L'utilisation d'un cadre théorique explicite qui définit et formalise le goal de l'examen criminaliste, permet de déterminer les besoins technologiques et en matière de données. Le développement de cette technologie et la collection des données pertinentes peut être justifiées économiquement et achevée de manière scientifique. Abstract : The contribution of ink evidence to forensic science is described and supported by an abundant literature and by two standards from the American Society for Testing and Materials (ASTM). The vast majority of the available literature is concerned with the physical and chemical analysis of ink evidence. The relevant ASTM standards mention some principles regarding the comparison of pairs of ink samples and the evaluation of their evidential value. The review of this literature and, more specifically, of the ASTM standards in the light of recent developments in the interpretation of forensic evidence has shown some potential improvements, which would maximise the benefits of the use of ink evidence in forensic science. This thesis proposes to interpret ink evidence using the widely accepted and recommended Bayesian theorem. This proposition has required the development of a new quality assurance process for the analysis and comparison of ink samples, as well as of the definition of a theoretical framework for ink evidence. The proposed technology has been extensively tested using a large dataset of ink samples and state of the art tools, commonly used in biometry. Overall, this research successfully answers to a concrete problem generally encountered in forensic science, where scientists tend to self-limit the usefulness of the information that is present in various types of evidence, by trying to answer to the wrong questions. The declaration of an explicit framework, which defines and formalises their goals and expected contributions to the criminal and civil justice system, enables the determination of their needs in terms of technology and data. The development of this technology and the collection of the data is then justified economically, structured scientifically and can be proceeded efficiently.

Genetics of sleep.

Molecular and genetic approaches in several species have provided new insights into the mechanisms of rest-activity and sleep-wake regulation. Many of these discoveries are believed to support hypotheses about sleep functions, which nevertheless remain elusive. In this review we discuss the specific contribution of both mammalian and invertebrate models to our understanding of the molecular basis of sleep.

Characterization of new Schistosoma mansoni microsatellite loci in sequences obtained from public DNA databases and microsatellite enriched genomic libraries

In the last decade microsatellites have become one of the most useful genetic markers used in a large number of organisms due to their abundance and high level of polymorphism. Microsatellites have been used for individual identification, paternity tests, forensic studies and population genetics. Data on microsatellite abundance comes preferentially from microsatellite enriched libraries and DNA sequence databases. We have conducted a search in GenBank of more than 16,000 Schistosoma mansoni ESTs and 42,000 BAC sequences. In addition, we obtained 300 sequences from CA and AT microsatellite enriched genomic libraries. The sequences were searched for simple repeats using the RepeatMasker software. Of 16,022 ESTs, we detected 481 (3%) sequences that contained 622 microsatellites (434 perfect, 164 imperfect and 24 compounds). Of the 481 ESTs, 194 were grouped in 63 clusters containing 2 to 15 ESTs per cluster. Polymorphisms were observed in 16 clusters. The 287 remaining ESTs were orphan sequences. Of the 42,017 BAC end sequences, 1,598 (3.8%) contained microsatellites (2,335 perfect, 287 imperfect and 79 compounds). The 1,598 BAC end sequences 80 were grouped into 17 clusters containing 3 to 17 BAC end sequences per cluster. Microsatellites were present in 67 out of 300 sequences from microsatellite enriched libraries (55 perfect, 38 imperfect and 15 compounds). From all of the observed loci 55 were selected for having the longest perfect repeats and flanking regions that allowed the design of primers for PCR amplification. Additionally we describe two new polymorphic microsatellite loci.

DIP-STR: Highly Sensitive Markers for the Analysis of Unbalanced Genomic Mixtures.

Samples containing highly unbalanced DNA mixtures from two individuals commonly occur both in forensic mixed stains and in peripheral blood DNA microchimerism induced by pregnancy or following organ transplant. Because of PCR amplification bias, the genetic identification of a DNA that contributes trace amounts to a mixed sample represents a tremendous challenge. This means that standard genetic markers, namely microsatellites, also referred as short tandem repeats (STR), and single-nucleotide polymorphism (SNP) have limited power in addressing common questions of forensic and medical genetics. To address this issue, we developed a molecular marker, named DIP-STR that relies on pairing deletion-insertion polymorphisms (DIP) with STR. This novel analytical approach allows for the unambiguous genotyping of a minor component in the presence of a major component, where DIP-STR genotypes of the minor were successfully procured at ratios up to 1:1,000. The compound nature of this marker generates a high level of polymorphism that is suitable for identity testing. Here, we demonstrate the power of the DIP-STR approach on an initial set of nine markers surveyed in a Swiss population. Finally, we discuss the limitations and potential applications of our new system including preliminary tests on clinical samples and estimates of their performance on simulated DNA mixtures.

Evolutionary biology: genetics and bisexuality.

A population-genetic model indicates that if there is a gene responsible for homosexual behaviour it can readily spread in populations. The model also predicts widespread bisexuality in humans.

Care pathway and model for community forensic teams in Northern Ireland

Care pathway and model for community forensic teams in Northern Ireland, October, 2011.

Forensic science - A true science ?

While the US jurisprudence of the 1993 Daubert requires judges to question not only the methodology behind, but also the principles governing, a body of knowledge to qualify it as scientific, can forensic science, based on Locard's and Kirk's Principles, pretend to this higher status in the courtroom ? Moving away from the disputable American legal debate, this historical and philosophical study will screen the relevance of the different logical epistemologies to recognize the scientific status of forensic science. As a consequence, the authors are supporting a call for its recognition as a science of its own, defined as the science of identifying and associating traces for investigative and security purposes, based o its fundamental principles and the case assesment and interpretation process that follows with its specific and relevant mode of inference.