Search

Abstract: The identification of X bodies is an everyday preoccupation in forensic pathology. This retrospective analysis studied all methods of identification and characteristics of unidentified bodies arrived in the Department of Forensic Medicine and Pathology (University Hospital R. Poincaré, Garches, France) during a 6-years period (2003–2009). The aim was to determine the identification methods used during all the forensic investigations, but also to study causes and manner of death in this sample of the population. A total of 9.1% of all autopsies were on X cadavers (217 cases out of 2384). On this total, only 134 of them have been included in our series after exclusion of archaeological and animal samples, but also of unidentified individuals or incomplete data available. Almost 28% of them have been identified with molecular biology (DNA), 23% with odontological examination, 7.5% with fingerprinting and 6.7% with autopsy data. Manner of death was mainly suicide (40.3%) especially by asphyxia following drowning, then accidental death (17.9%) especially consecutive to multiple trauma after traffic accident, acute carbon monoxide intoxication or carbonization in a fire. A total of 11.9% natural deaths were found (50% of them being of cardio-vascular origin) and 11.2% of homicides (with the use of firearm in a third of them). For 18.7% of X cadavers, the mode of death was undetermined. 46.4% of all unidentified bodies in our series were only identified by the police investigations, using physical recognition (direct or with photographs) or personal effects or identity documents in close relationship with the body. Our study highlights the fact that quite half of all unidentified bodies are inhumed with an identity not scientifically proved. Bodies which remained unidentified after all investigations represent 10.2% of X cadavers (if we consider a group of 176 cases composed of our study sample of 134 cases plus 24 subjects identified just before the autopsy and the 18 cases which remained unidentified) and 0.8% of all autopsies performed in the department. [Copyright &y& Elsevier]

Hereditary hemochromatosis is an autosomal recessive disorder with incomplete penetrance that results from excess iron absorption and can lead to chronic liver disease, fibrosis, cirrhosis, and hepatocellular carcinoma. The most common form of hereditary hemochromatosis in Western Europe is due to a homozygous mutation (p.(Cys282Tyr) or C282Y), in the HFE gene which encodes hereditary haemochromatosis protein. In the general European population, the frequency of the homozygous genotype is 0.4%, and this mutation explains up to 95% of hereditary hemochromatosis in France. We report here an improved PCR and restriction endonuclease assay based on multiplex amplification of HFE exon 4 (for C282Y detection), HFE exon 2 (for H63D detection), FZD1 gene (for digestion controls), and two Short Tandem Repeats (SE33 and FGA) for identity monitoring and contamination tracking. Fluorescent primers allow capillary electrophoresis, accurate allele tagging, and sensitive contamination detection., Competing Interests: The author declares that there are no conflicts of interest., (Copyright © 2020 Ludmilla OGOUMA-AWORET et al.)

Archaeological remains can provide concrete cases, making it possible to develop, refine or validate medico-legal techniques. In the case of the so-called 'Joan of Arc's relics' (a group of bone and archaeological remains known as the 'Bottle of Chinon'), 14 specialists analysed the samples such as a cadaver X of carbonised aspect: forensic anthropologist, medical examiners, pathologists, geneticists, radiologist, biochemists, palynologists, zoologist and archaeologist. Materials, methods and results of this study are presented here. This study aims to offer an exploitable methodology for the modern medico-legal cases of small quantities of human bones of carbonised aspect., (2009 Elsevier Ireland Ltd. All rights reserved.)

Hereditary factor XI (FXI) deficiency is an autosomal bleeding disorder of variable severity but without a clear relationship between bleeding and FXI levels or mutation location or both. In the present study, the molecular basis of FXI deficiency in 16 patients from 12 families originating from the Marseilles area in the south of France was studied. FXI defect was evidenced by routine laboratory tests showing prolonged activated partial thromboplastin times and decreased factor XI activities. The promotor region, exons 1-15, and the exon-intron boundaries of the FXI gene were sequenced. Four novel mutations were found; three were missense mutations (Cys212Ser, Gly350Arg and Thr381Leu resulting from heterozygote mutation in exon 7, 10 and 11, respectively), and one was a one base deletion in exon 4 that induces a frameshift creating a stop codon four residues later (Thr57Ile fsX4). Eight previously reported mutations were also found. Contrarily to the Jewish, Basques or Briton populations, no recurrent mutation was identified. This cohort also illustrates that bleeding events occur not exclusively and not systematically in severe FXI deficiency but also in patients characterized by a mild FXI deficiency.

The occurrence of two null alleles for the same individual was suspected because of the discrepancy at two loci (vWA and THO1) between genotypes characterized by the mean of two different commercial kits. Reanalysis of the samples indicated there was no null allele, and that this abnormality was indeed related to an automatic laser power shutdown. The laser power supply was set to a value (6.4V) too close to the automatic shutdown threshold (6.0V). The alleles were undetected because of the absence of emission at the time of migration of the two alleles through the detection device. However, since no alarm is triggered in such an event, the users should monitor their laser power supply values.