Puzzling Results from Germline Mutations Analysis in a Group of Asbestos-Exposed Patients in a High-risk Area of Northeast Italy.

Background: Germline mutations of the oncosuppressor gene breast cancer 1-associated protein 1 (BAP1) were recently related to an autosomal-dominant tumor predisposition syndrome (BAP1-TPDS), characterized by uveal melanoma, malignant mesothelioma (MM), cutaneous melanoma, and other malignancies. The demonstration that BAP1 mutations are strongly associated with MM has provided a real breakthrough in the study of genetic predisposition in MM, that may explain why only a fraction of asbestos-exposed individuals go on to develop MM.

Materials And Methods: To evaluate the possible role of BAP1 mutations in the epidemiology of sporadic MM, and their relationship with asbestos exposure, we determined the prevalence of germline BAP1 mutations by the Sanger method in a group of 29 asbestos-exposed patients, 21 of which were diagnosed with MM.

Dental status of three Egyptian mummies: radiological investigation by multislice computerized tomography.

Objective: The aim of the study was to provide a paleopathologic and radiologic overview of the jaws and teeth of 3 Egyptian mummies preserved in the Civic Museum of History and Art in Trieste. Computerized tomography (CT) imaging and postprocessing techniques were used to examine the oral structures.

Study Design: A 16-slice CT scanner was used (Aquilion 16; Toshiba Medical Systems Europe, Zoetermeer, The Netherlands).

Dismemberment: a review of the literature and description of 3 cases.

The authors describe 3 cases of dismemberment. Numerous methods of hiding a body and thus erasing proof of murder have been devised. Those most frequently described in the literature include: burial of the body in an unusual or impervious place such as a wood, grotto or mountain; charring the body by wrapping it in a tire, for example, to fuel the fire until all traces of the crime have been erased and identification of the victim is difficult; and dropping the weighted-down body in the open sea or in a well in the hope that it will never be found.

Fatal impalement with transfixion of the neck in a road traffic accident.

The authors describe a singular case of fatal impalement due to penetration of a metal tube at the level of the neck in a victim of a road traffic accident. The man was traveling in the passenger seat ("death seat") of a car that hit the parapet of a bridge head on; death was attributed to hemorrhagic shock, which was brought on virtually instantly at the moment of impact.

Anomalies and alterations of the hyoid-larynx complex in forensic radiographic studies.

The authors illustrate the anatomic interest of the hyoid-larynx complex in the differential diagnosis of traumatic lesions, purely anatomic anomalies, and lesions resulting from natural causes. Forty larynges from corpses undergoing autopsy at the Institute of Legal Medicine of the University of Trieste were studied during the period May 1996 to May 2001. The larynges were excised and examined through radiographic magnification with dedicated mammographic equipment.

Death following atypical compression of the neck.

The authors present 3 cases of asphyxia caused by atypical compression of the neck by the metal bed bars fitted at the sides of the bed to prevent falling out. These occurred in 3 elderly women living in nursing homes, confined to bed by severe neuropsychiatric disturbances. In all 3 cases, the minor nature of the skin lesions and absence of blood infiltrations in the anatomic structures of the neck had made it difficult to diagnose the cause of death.

DNA identification of sperm cells collected and sorted by flow cytometry.

In cases of rape, obtaining enough biologic material for DNA identification of the attacker is often difficult because the methods for distinguishing and separating sperm cells from vaginal cells are not sufficiently efficacious. This article describes a new, innovative method for spermatic DNA extraction from the vaginal washing fluid by means of flow cytometry. The high specificity and sensitivity of the flow-cytometric sorting method provides enough sperm cells for DNA typing.

What is the best sample for determining the early postmortem period by on-the-spot flow cytometry analysis?

The level of degradation of DNA as a means for determining the time of death has been proposed as a valid adjunct to the classic thanatochronologic methods. The twofold aim of this work was to determine which organ might reveal both a correlation between the percentage of degradation of the DNA and the time lapse since death, and would be easiest to sample and yield the most reproducible results even in technically unfavorable situations such as on-the-spot investigations at the scene of death. A comparison of the spleen, blood, and liver showed that hepatic tissue best meets these specific needs because it shows a virtually linear correlation between the time elapsed since death and the level of degradation of the DNA, and it can easily be sampled at the scene of death by use of a common biopsy needle.

Unusual neck lesion in a pedestrian caused by a road accident.

The authors describe a road accident that occurred in the Trieste region of Italy in 1998, wherein a pedestrian experienced a mortal injury. During the on-site examination, the forensic officer in charge noticed, in addition to dispersed abrasions, bruises, and fractures, an unusual position of the head with a highly unusual motility of the cervical rachis and, above all, an apparent whitish fibrous elastic cord, 7-8 cm long, which came out of the mouth. The cord was found to be a segment of the spinal cord, expelled and driven into the mouth cavity by the impact.