Fabio Monticelli

Investigation on the reliability of determining sex from the human os zygomaticum

The diagnosis of sex using the skull is based mainly on morphological findings. The differential expression of these characteristics is described almost identically in the relevant literature. The descriptions date back to the 18th century and stem from observations of inhomogenous investigations, partly with very small samples. Therefore, it is necessary to re-assess the significance of each characteristic. The objective of the present study is to determine the significance that can be attributed to different morphological characteristics and metric data of the os zygomaticum used in sex diagnostics from a current point of view. A collection of 138 recent human skulls was investigated. Both examination of the morphological characteristics as well as metric analysis of the cheekbone in the test group revealed that both methods were suitable for differentiating sex, but due to their variability they cannot be regarded as sufficiently reliable.

Calcineurin and matrix protein expression in cardiac hypertrophy : Evidence for calcineurin B to control excessive hypertrophic signaling

In the compensatory state of human left ventricular hypertrophy (LVH), the remodeling processes in the extracellular matrix and the role of calcineurin (Cn) are not completely understood. The present work aimed to analyze the expression and activity of matrix metalloproteinases (MMPs), their endogenous inhibitors (TIMPs), and of Cn in patients with compensated LVH. By semiquantitative RT-PCR, Western blotting, and gelatine zymography, we determined mRNA, protein, and/or enzyme activity levels of MMPs, TIMPs, atrial natriuretic peptide (ANP), Cn subunits, and of the modulatory calcineurin-interacting protein (MCIP) 1. Myocardial samples from patients showing severe aortic stenosis, normal ejection fraction, and compensated LVH were compared with autopsy samples from healthy hearts. LVH patients showed upregulation of CnA-β mRNA but downregulation of both CnB-α mRNA and protein. Total Cn activity (as determined through NF-AT phosphorylation and MCIP1 mRNA expression) was unchanged. There were no differences in gene expression and activities of MMP-2, MMP-9, and of TIMPs 1–4 between LVH patients and controls. As expected, ANP mRNA expression was high in LVH patients. We propose a prominent role for CnB in controlling Cn activity in compensated LVH. At this stage of the disease, MMP and TIMP activities are balanced.

Postmortem muscle protein degradation in humans as a tool for PMI delimitation

Forensic estimation of time since death relies on diverse approaches, including measurement and comparison of environmental and body core temperature and analysis of insect colonization on a dead body. However, most of the applied methods have practical limitations or provide insufficient results under certain circumstances. Thus, new methods that can easily be implemented into forensic routine work are required to deliver more and discrete information about the postmortem interval (PMI). Following a previous work on skeletal muscle degradation in the porcine model, we analyzed human postmortem skeletal muscle samples of 40 forensic cases by Western blotting and casein zymography. Our results demonstrate predictable protein degradation processes in human muscle that are distinctly associated with temperature and the PMI. We provide information on promising degradation markers for certain periods of time postmortem, which can be useful tools for time since death delimitation. In addition, we discuss external influencing factors such as age, body mass index, sex, and cause of death that need to be considered in future routine application of the method in humans.

Driving under the influence of drugs and alcohol in Salzburg and Upper Austria during the years 2003-2007

Until 2002 in Austria a blood sample could not be drawn due to regulations stipulated by the Austrian constitution. During the years 2003-2007 alcohol, pharmaceuticals and illicit drugs were analyzed in 1167 blood samples from cases of suspected and drugged drivers. In accordance with the findings of the EU-project Rosita, a wide variety of illicit drugs and medications could be found in blood samples of the drivers where cannabis (50%), opiates (20%), amphetamines (18%), cocaine (15%) and benzodiazepines (20%) were those with the highest prevalence. To enable police and medical officers to identify drivers under the influence of cannabis, a newly developed urinary road-site-test system, Check 24 (Protzek GmbH, Germany), with two different cut-off values for THCCOOH-glucuronide was used. So far, it was not possible to draw any conclusions from a cannabinoid positive urine sample to the actual influence of a driver due to the previous consumption of cannabis. Using this test a better differentiation between recent and temporal earlier consumption was possible. In addition to using the Check 24 system the technology of pupillography (AMTech GmbH, Germany) was applied in cases of drugged driving. For the first time the authors were able to predict the presence of at least one central nervous active substance in the blood of a drugged driver.

Another case of diethyl ether intoxication? A case report focusing on toxicological analysis

Diethyl ether was widely used as an anesthetic agent in many countries in the second half of the 19th century and the first half of the 20th century. For this reason the majority of lethal cases involving diethyl ether reported during this period were associated with anesthesia. We present a case of asphyxial death by plastic-bag suffocation with additional detection of diethyl ether in autopsy specimens. Autopsy initially failed to reveal the cause of death. Macroscopic and microscopic findings as well as subsequent toxicological examination procedures and results are pointed out in the present case report. Headspace gas chromatography with flame ionization detection (HS-GC-FID) coupled with gas chromatography/mass spectrometry (GC-MS) proved to be the method of choice for fast and reliable analysis of unknown highly volatile substances (other than blood alcohol). In this case the detection of diethyl ether in autopsy specimens led to further investigations by the police at the death scene. During these investigations a bottle bearing a diethyl ether label was found and confiscated, which proved the insufficiency of prior death scene investigation. In order to evaluate the case from every possible angle, in such cases, especially when plastic-bag suffocation is suspected, we strongly recommend the collection of postmortem specimens in gas-tight vessels as well as the presence of a forensic expert at the death scene.

First application of a protein-based approach for time since death estimation

Awareness of postmortem degradation processes in a human body is fundamental to develop methods for forensic time since death estimation (TDE). Currently, applied approaches are all more or less limited to certain postmortem phases, or have restrictions on behalf of circumstances of death. Novel techniques, however, rarely exceed basic research phases due to various reasons. We report the first application of a novel method, based on decay of muscle proteins, in a recent case of murder-suicide, where other TDE methods failed to obtain data. We detected considerably different protein degradation profiles in both individuals involved and compared the data to our presently available database. We obtained statistical evidence for un-simultaneous death and therefore received valuable information to trace the progression of events based on protein degradation. Although we could not sensibly convert the data to respective times of death, this case highlights the potential for future application and elucidates the necessary further steps to develop a viable TDE method.

Pupil function as an indicator for being under the influence of central nervous system-acting substances from a traffic-medicine perspective

In order to evaluate driving abilities of each traffic participant, standardised and objective measurement methods are needed. The applicability and value of infrared pupillography as an objective measurement method to indicate possible influence of central nervous acting substances has been demonstrated in former publications. Healthy test subjects (n = 41), as well as persons who were under the influence of drugs and/or medication (n = 105), were exposed to different light stimuli using infrared technology in order to demonstrate the relevance of specific parameters of the pupillary light reflex (PLR) in the field of traffic medicine. Based on former reported results, the statistical examination was extended to further parameters of the PLR, which again confirmed the high value of infrared pupillography as a reliable indicator of previous consumption of drugs and/or medication.

Homicide by hanging: A case report and its forensic-medical aspects

We report a rare case of homicide by hanging. The postmortem examination resulted in a verdict of death by suicidal hanging and the Public Prosecutors Office released the body for burial. After intervention by the relatives police investigations were resumed. Based on evidence impossible to reconcile with the results of the postmortem examination and requiring further clarification, an autopsy was ordered. The results of the postmortem could not be brought in line with a suicidal hanging and were further substantiated by DNA analysis. The scenario put forward by the defense claiming a secondary transfer of trace evidence onto the ligature and the victims clothes was excluded because of the distribution pattern and the trace evidence ratio. The defendant was sentenced to 20 years of prison for homicide. The verdict was confirmed by the Supreme Court and commuted to 18 years.

Fatal aconitine intoxication or thyroid storm? A case report

The case of a female in the latter half of her teens found dead in her fathers apartment is reported. A glass containing liquid and plant remnants was found at the death scene. There were no indications of any intervention or the application of force by a third party. Autopsy showed unremarkable findings. Toxicological investigations revealed lethal doses of aconitine, a highly poisonous alkaloid and the major active compound of Aconitum napellus, in all specimens. Plant remnants were identified as A. napellus leaves by a botanist and toxicological examination of the liquid in the glass on site showed extremely high concentrations of aconitine. Additionally, laboratory results revealed that the young female was suffering from thyrotoxicosis factitia, an uncommon form of hyperthyroidism caused by misuse or overdosing of thyroid hormones in order to loose weight. A rare but serious and often fatal complication of hyperthyroidism is thyroid storm. Eventually the condition of thyroid storm due to thyrotoxicosis factitia could have contributed to the womans death from aconitine poisoning.

An unusual case of identification by DNA analysis of siblings.

A badly decomposed body required identification by means of DNA analysis. A brother and sister of the deceased were available as reference subjects. Although investigation of Y-chromosomal markers established an exclusion condition, autosomal markers suggested a positive identification. In order to increase the reliability of the tests, X-chromosomal markers were also investigated. This analysis showed the body to have an XXY genotype (Klinefelters syndrome). A number of hypotheses were assessed using biostatistical methods, ultimately resulting in a definite identification. The special aspect of Klinefelters syndrome proved highly useful for biostatistical analysis.