Molecular Genetics and its Applications in Forensic Sciences

The way to medico legal identification was open at the end of the twenty‐first century by the “digital fingerprinting” represented by the multifactorial phenotypical trait, determined by both polygenic and environmental factors, followed by group‐specific antigens, or with specificity for blood and tissue, and ending with the DNA molecule in use today. Because of this aspect, the framework of modern forensic medicine includes a new field, that of forensic genetics, that mostly involves working with investigations that have human genotype identification as a goal

An Ethical Dilemma in SARS-Cov-2 Pandemic : Who Gets the Ventilator?

Since the current pandemic is an emergency situation worldwide, there’s a shortage of mechanical ventilators, intensive care unit (ICU) beds, and other medical equipment. Due to new disease and insufficient medical data, it is difficult to ensure access to life-saving treatments for people with various vulnerabilities. From an ethical point of view, the current guidelines and recommendations, as incomplete as they are, suggest the utilitarian principle that the allocation of life-saving treatments is based on assessing patients' chances of survival

ETHICAL CONSIDERATIONS REGARDING GENETIC DISCRIMINATION IN THE CASE OF HUNTINGTON’S DISEASE

Huntington’s is a genetic neurodegenerative disease with dominant autosomal transmission, and high penetrance. This transmission model represents a high recurrence risk (50%) in case of the descendants of affected individuals. This disease can have its debut during adulthood, 40-50 years old or, in case of its juvenile form, during childhood or adolescence. The disease evolves with dystonia, choric movements, rigidity and dementia. Genetic testing for HD mutation is performed through molecular techniques and is possible at any age, independent of whether the person is symptomatic or asymptomatic. The genetic testing allows the identification of those individuals who are carriers of mutations on certain genes, these mutations being the underlying cause for some genetic diseases. At the present moment there are 3 types of genetic testing: diagnostic, carrier and predictive. The predictive tests identify whether an individual is a carrier for a certain specific genetic mutation and whether the possibility exists for him to develop certain health issues later on. Being aware of the carrier status for a certain genetic mutation for Huntington’s represents an element with major impact on the individual and on their family and can lead to discrimination from the side of the insurance companies, employers as well as others

ETHICAL CONSIDERATIONS REGARDING GENETIC DISCRIMINATION IN THE CASE OF HUNTINGTON’S DISEASE

Huntington’s is a genetic neurodegenerative disease with dominant autosomal transmission, and high penetrance. This transmission model represents a high recurrence risk (50%) in case of the descendants of affected individuals. This disease can have its debut during adulthood, 40-50 years old or, in case of its juvenile form, during childhood or adolescence. The disease evolves with dystonia, choric movements, rigidity and dementia. Genetic testing for HD mutation is performed through molecular techniques and is possible at any age, independent of whether the person is symptomatic or asymptomatic. The genetic testing allows the identification of those individuals who are carriers of mutations on certain genes, these mutations being the underlying cause for some genetic diseases. At the present moment there are 3 types of genetic testing: diagnostic, carrier and predictive. The predictive tests identify whether an individual is a carrier for a certain specific genetic mutation and whether the possibility exists for him to develop certain health issues later on. Being aware of the carrier status for a certain genetic mutation for Huntington’s represents an element with major impact on the individual and on their family and can lead to discrimination from the side of the insurance companies, employers as well as others

Advantages of Salivary DNA in Human Identification

Since two and a half decades, in human identification, the short tandem repeat (STR) markers represent the “gold standard.” Besides them, haploid markers such as X-STR and Y-STR are also used to complement the autosomal markers. In human identification, DNA from body fluids, especially saliva, represents an important tool. The aim of this chapter is to present the importance of analyzing X-STR markers in a relatedness case between a sister and her presumptive brother, a carbonized victim using body fluids for their DNA identification. Our laboratory had to establish the relatedness between a woman and her presumptive brother (PB), who was the victim of a car accident explosion. In this case, as reference sample we used saliva collected on swabs from the woman and blood sample from the deceased victim. For the DNA extraction, DNA IQ Casework (Promega, USA) was used. DNA quantification was done with PowerQuant System kit (Promega, USA). Furthermore, the DNA samples were amplified with Investigator 24plex QS (Qiagen, Germany) for the STR markers and Investigator Argus 12-X QS kit (Qiagen, Germany) for the X-STR markers. The amplified DNA products were separated by capillary electrophoresis on a 3500 Genetic Analyzer. In this case, full genetic profiles were obtained for the woman and her presumptive brother on both STR and X-STR markers. Thus, we could confirm a full sibling relationship between them. Since the introduction of DNA in human identification, it represents a useful tool in establishing sibling relationship from different biological samples

Atypical moral judgment following traumatic brain injury

Previous research has shown an association between emotions, particularly social emotions, and moral judgments. Some studies suggested an association between blunted emotion and the utilitarian moral judgments observed in patients with prefrontal lesions. In order to investigate how prefrontal brain damage affects moral judgment, we asked a sample of 29 TBI patients (12 females and 17 males) and 41 healthy participants (16 females and 25 males) to judge 22 hypothetical dilemmas split into three different categories (non-moral, impersonal and personal moral). The TBI group presented a higher proportion of affirmative (utilitarian) responses for personal moral dilemmas when compared to controls, suggesting an atypical pattern of utilitarian judgements. We also found a negative association between the performance on recognition of social emotions and the proportion of affirmative responses on personal moral dilemmas. These results suggested that the preference for utilitarian responses in this type of dilemmas is accompanied by difficulties in social emotion recognition. Overall, our findings suggest that deontological moral judgments are associated with normal social emotion processing and that frontal lobe plays an important role in both emotion and moral judgment

Assessment of air pollutants removal by green infrastructure and urban and peri-urban forests management for a greening plan in the Municipality of Ferrara (Po river plain, Italy)

Air pollution is a serious concern for human health and is even more worrying in areas that are known to be "pollution hotspots", such as the Po Plain in northern Italy. The Urban Green Infrastructure (UGI), which includes urban and peri-urban forests, enhances human health and wellbeing delivering a wide range of ecosystem services, including air quality improvement. In this research, we analyzed, in biophysical and monetary terms, the role of the UGI in removing PM10 and O-3 from the atmosphere in the Municipality of Ferrara using established removal models. We used a multiscale approach that includes geospatial data, field sampling and laboratory analysis. Then, using a local green areas database, we located public areas that could potentially undergo forestation actions without requiring any land conversion and evaluated the benefit in terms of ESs provision that these actions may exert. We found that, in 2019, the UGI in the Municipality of Ferrara removed about 19.8 Mg of PM10 and 8.6 Mg of O-3, for a monetary benefit of (sic) 2.12 million (sic) and 147*103 respectively. We then identified about 121 ha within the urban core of the Municipality that could potentially be forested. Such an action would increase the PM10 and O-3 removal by about 49% and 18%, respectively. Our findings comply with the EU Biodiversity strategy for 2030, which calls for the development of an ambitious greening plan for cities with more than 20,000 inhabitants

Electrochemical detection of lead at zinc oxide nanostructure based modified electrode

A modified glassy carbon electrode (ZnO-Nafion/GCE) prepared by drop-casting technique, was investigated by square wave anodic stripping voltammetry (SWASV) for the detection of Pb2+ in synthetic and reals water samples

Traumatic brain injury patients: does frontal brain lesion influence basic emotion recognition?

Adequate emotion recognition is relevant to individuals’ interpersonal communication. Patients with frontal traumatic brain injury (TBI) exhibit a lower response to facial emotional stimuli, influencing social interactions. In this sense, the main goal of the current study was to assess the ability of TBI patients in recognizing basic emotions. Photographs of facial expressions of five basic emotions (happiness, sadness, fear, anger, and surprise) were presented to 32 TBI patients and 41 healthy controls. Emotion recognition was measured by accuracy and reaction time. Overall performance of the TBI group was poorer than control group for emotion recognition, both in terms of accuracy and reaction time. It is suggested that TBI patients show impairment on emotion recognition, and this relation seems to be moderated by the lesion localization. Keywords: emotion recognition, basic emotions, TBI patients