Alessio Asmundo

Y-chromosome haplotypes in Italy: the GEFI collaborative database

A sample of 1176 males from 10 Italian regions have been typed for DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, and DYS385. Individual haplotype data are available on line. A low degree of variation is present among regions. Use of this database is specifically recommended for forensic applications in Italy.

Polymorphism of glutathione S-transferases M1 and T1: susceptibility to solar keratoses in an Italian population

Background.  Polymorphisms of glutathione S‐transferases (GSTs) are linked to skin cancer, but data on their association with solar keratosis (SK) are few and conflicting.

Population study of the short tandem repeat polymorphisms HumTH01, HumvWA31, HumFESFPS and HumF13A01 in Sicily (Southern Italy)

Abstract Population genetic studies were carried out on randomly selected and unrelated healthy individuals from Sicily (n = 140–150 individuals) using the short tandem repeat (STR) systems HumTH01, HumvWA31, HumFESFPS and HumF13A01. After vertical electrophoresis on polyacrylamide denaturing gels 6 alleles could be identified for TH01, 9 for vWA31, 7 for FESFPS and 11 for F13A01. No significant deviations from Hardy-Weinberg were observed.

Post mortem CT of intrahepatic gas distribution in twenty-seven victims of a flood: Patterns and timing

We reported the results of post mortem computed tomography of the liver in 27 subjects dead simultaneously during a flood. The aim of our work was to identify the different patterns of post mortem intrahepatic gas distribution and the timing of its appearance. Although post mortem CT is the method of choice for the evaluation of gas distribution, controversies exist about the first site of appearance of intrahepatic gas (portal veins versus hepatic veins) as well as the timing and steps of intrahepatic gas spreading. In each subject we performed thin slice CT scanner (Somatom Definition, Siemens) and post processing of native CT images with Minimum Intensity Projection technique. Our results show that the first site of appearance of intrahepatic gas is portal veins. Gas in hepatic veins was never seen without the presence of the gas in portal vein. Gaseous cysts in hepatic parenchyma represent a further and usually more tardive pattern of intrahepatic gas distribution. In addition, we demonstrated that differences in timing of gas spreading was statistically significative for exclusive presence of portal veins gas before 48h as well as for complete substitution of hepatic parenchyma by cysts 64h after death. In conclusion, our work shows that the CT study of postmortem intrahepatic gas distribution could be a useful complementary tool both in demonstrating the mechanism of intrahepatic gas spreading and in estimating post mortem interval.

Lethal Anaphylactic Reaction to Intravenous Gelatin in the Course of Surgery.

Plasma volume expanders (PVEs) are widely used to increase circulating blood volume. Gelatins used as PVEs are heterogeneous mixtures of polypeptides, usually prepared by hydrolysis of bovine collagen containing large amounts of proline and hydroxyproline residues. It has been shown that gelatins can cause anaphylactic reactions. We describe the case of a 73-year-old man who during surgery for intestinal obstruction presented a lethal anaphylactic reaction after the administration of a PVE containing gelatin lysate. The reaction occurred 10 minutes after the start of plasma expander infusion. Then, patient became comatose, and he died without awakening after 76 days. Necroptic aspects and histologic evaluation suggested the occurrence of anaphylactic reaction. According to pharmacovigilance algorithm, the causality relationship between PVE administration and adverse reaction has been considered as probable. We described a new lethal adverse reaction caused by PVEs containing gelatin. It is currently considered a very rare event, but we believe that it represents an important signal suggesting for a critical surveillance comprising a complete evaluation of individuals allergic susceptibility.

Analysis on sarcoglycans expression as markers of septic cardiomyopathy in sepsis-related death

The post-mortem assessment of sepsis-related death can be carry out by many methods recently suggested as microbiological and biochemical investigations. In these cases, the cause of death is a multiple organ dysfunction due to a dysregulated inflammatory response occurring after the failure of infection control process. It was highlighted also that the heart can be a target organ in sepsis which determines the so-called septic cardiomyopathy characterized by myocardial depression. Several mechanisms to explain the pathophysiology of septic cardiomyopathy were suggested, but very few studies about the structural alterations of cardiac cells responsible for myocardial depression were carried out. The aim of this study was to evaluate whether sarcoglycans (SG) were involved in septic cardiac damage analyzing their expression in sepsis-related deaths and, particularly, if these proteins can be used as markers of septic myocardial dysfunction. Cases of septic-related death confirmed by clinical and autopsy records were investigated and compared to a control group of traumatic deaths. Indirect immunofluorescence analysis was performed to analyze α-SG, β-SG, δ-SG, ζ-SG, ε-SG, and γ-SG. Decrease of fluorescence staining pattern for all tested sarcoglycans was observed in the septic-related deaths compared to normal fluorescence staining pattern of control group. These results provide new findings about the myocytes structural alterations due to sepsis and suggest that these proteins could be used in forensic assessment of septic cardiomyopathy.

Immunohistochemical study on dystrophin expression in CAD-related sudden cardiac death: a marker of early myocardial ischaemia

The aims of this study were to assess if dystrophin can be a tool for the forensic evaluation of sudden cardiac death due to coronary atherosclerotic disease (CAD) and particularly if it can be a marker of early myocardial ischaemia. Then in this investigation, the dystrophin was compared to C5b-9 and fibronectin to analyze if there are some differences in the expression of these proteins. Two groups of CAD-related sudden cardiac death, respectively the group 1 with gross and/or histological evidence and the group 2 with no specific histological signs of myocardial ischaemia were used. A third group formed by cases of acute mechanical asphyxiation was used as a control. The immunohistochemical staining by dystrophin, C5b-9 and fibronectin antibodies was performed. Loss of sarcolemmal dystrophin was observed in different degrees according to more or less significant histological evidence of myocardial ischaemia. Moreover, the comparison between loss of dystrophin expression and fibronectin positivity showed significant differences in group 2. The results suggested that dystrophin can be used in forensic diagnosis of CAD-related sudden cardiac death and as marker of early myocardial ischaemia.

The Mediterranean shipwreck of April 18 2015: challenges in the postmortem examination of the victims

Background and Aims. On the 18th of April 2015, one of the largest shipwrecks in the Mediterranean sea occurred with around 800 gone missing. Among European indifference and inactivity, the Italian Government created a task force, through the will of the Commissioner’s Office of Missing Persons, the Italian Navy, the Prefecture of Siracusa, the Police, the Military Red Cross and the University of Milano flanked by the Universities of Catania, Palermo and Messina and other 10 Universities for the recovery and the identification of these victims in a challenging scenario where collection of post-mortem and ante-mortem data is very difficult respectively because of the conditions of the bodies and the political situation of the countries of provenance of the victims as well as the dispersal of their relatives and loved ones all over the world. According to the DVI protocols, identification relies mainly upon primary (genetic, fingerprint, teeth) criteria, but previous experience on the Lampedusa disaster has proven that such criteria may not guarantee high success rates. Personal descriptors of faces (ante-mortem photographs) are becoming more and more important. Materials and Methods. Since July 2015, 69 body bags bodies have been recovered around the wreck e and 458 body bags inside the boat; these were recovered by the Italian Navy and brought to a Naval area near Siracusa where a morgue was set up. Here PM examination on all bodies was performed and a biological profile was created through detailed pathological, anthropological odontological and radiological examination of the remains along with sampling for DNA analysis. 3D scans of the face or crania also were performed. Results. Preservation of the bodies varied from decomposed bodies, partial skeletonization of the extremities to complete skeletonization (with lack of the skull). Over 550 bodies were recovered along with many commingled remains. Preservation of bodies varied from partial skeletonization of the extremities (41%) to complete skeletonization (23%). All bodies so far belong to males. Conclusions. The humanitarian disposition of countries, politicians and scientists is a fundamental prerequisite for identifying victims of these disasters. Because of the difference in type of AM data available in such cases, autopsy procotols and identification strategies may need to vary.

Allele frequencies distribution of 16 forensic STR loci in a Western Sicilian population sample

The PowerPlex® ESI 17 Fast and ESX 17 Fast Systems represent faster cycling versions released by Promega® to follow the requirements of ENFSI and EDNAP groups’ for new STR genotyping systems in Europe. Allele frequencies and forensic parameters were estimated in a population sample of 120 unrelated healthy individuals living in Sicily (Western Sicilian population sample) using PowerPlex® ESI 17 Fast and PowerPlex® 17 Fast Systems. Full concordance of the results for both systems was observed. No significant deviation from Hardy-Weinberg equilibrium was detected. The observed heterozygosity changed from 0.85833 for FGA to 0.95 for TH01. The combined power of discrimination for the 16 loci was >0.999999.

Forensic validation of Y-chromosome STR polymorphisms in Italy: the GE.F.I. collaborative database

Abstract Haplotype data of 1176 Italian males from 10 regions were obtained as a part of a collaborative validation exercise. Individual data are available at http://www.gefi-forensicDNA.it .