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Article ; Online: Application of Aquaporins as Markers in Forensic Pathology: A Systematic Review of the Literature.

Alfieri, Letizia / Montana, Angelo / Frisoni, Paolo / D'Errico, Stefano / Neri, Margherita

International journal of molecular sciences

2024 Volume 25, Issue 5

Abstract: The study of aquaporins (AQPs) in various forensic fields has offered a promising horizon in response to the need to have reliable elements for the identification of the manner of death and for the individuation of forensic markers for the timing of ... ...

Abstract	The study of aquaporins (AQPs) in various forensic fields has offered a promising horizon in response to the need to have reliable elements for the identification of the manner of death and for the individuation of forensic markers for the timing of lesions and vitality of injury. In the literature, various tissues have been studied; the most investigated are the lungs, brain, kidneys, skin, and blood vessels. A systematic literature review on PubMed following PRISMA 2020 guidelines enabled the identification of 96 articles. In all, 34 of these were enrolled to identify Aquaporin-like (AQP-like) forensic markers. The analysis of the literature demonstrated that the most significant markers among the AQPs are as follows: for the brain, AQP4, which is very important in brain trauma and hypoxic damage; AQP3 in the skin lesions caused by various mechanisms; and AQP5 in the diagnosis of drowning. Other applications are in organ damage due to drug abuse and thrombus dating. The focus of this review is to collect all the data present in the literature about the forensic application of AQPs as forensic markers in the most important fields of application. In the current use, the individuation, validation, and application of markers in forensic investigation are very useful in real forensic applications in cases evaluated in court.
MeSH term(s)	Humans ; Aquaporins/metabolism ; Lung/pathology ; Hypoxia/pathology ; Brain/metabolism ; Skin/metabolism
Chemical Substances	Aquaporins
Language	English
Publishing date	2024-02-25
Publishing country	Switzerland
Document type	Systematic Review ; Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms25052664
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Cardiac SARS-CoV-2 Infection, Involvement of Cytokines in Postmortem Immunohistochemical Study.

Alfieri, Letizia / Franceschetti, Lorenzo / Frisoni, Paolo / Bonato, Omar / Radaelli, Davide / Bonuccelli, Diana / D'Errico, Stefano / Neri, Margherita

Diagnostics (Basel, Switzerland)

2024 Volume 14, Issue 8

Abstract: In the context of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, significant attention was given to pulmonary manifestations. However, cardiac involvement is increasingly recognized as a critical factor influencing the prognosis, ...

Abstract	In the context of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, significant attention was given to pulmonary manifestations. However, cardiac involvement is increasingly recognized as a critical factor influencing the prognosis, leading to myocardial damage, heart failure, acute coronary syndromes, potentially lethal arrhythmic events, and sudden cardiac death. Despite these findings, there is a lack of studies detailing the necroscopic, macroscopic, and microscopic cardiac changes associated with SARS-CoV-2. This study aimed to investigate the presence of SARS-CoV-2 viral proteins in cardiac tissue using immunohistochemical techniques to assess viral tropism. The analysis of cardiac tissue samples from deceased subjects, in different stages of conservation, confirmed to be positive for SARS-CoV-2 via reverse transcriptase-polymerase chain reaction (RT-PCR), showed immunopositivity for the SARS-CoV-2-NP viral antigen in 33% of cases. Notably, the presence of leukocyte infiltrates sufficient for diagnosing lymphocytic myocarditis was not observed. The central proinflammatory cytokines involved in the pathogenetic mechanism of coronavirus disease 19 (COVID-19) were researched using the immunohistochemical method. A significant increase in cytokine expression was detected, indicating myocardial involvement and dysfunction during SARS-CoV-2 infection. These findings suggest that the immunohistochemical detection of SARS-CoV-2 viral antigens and inflammatory cytokine expression in cardiac tissue could be crucial for a proper forensic assessment of the cause of death, even in sudden cardiac death.
Language	English
Publishing date	2024-04-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics14080787
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Article: Application of Forensic DNA Phenotyping for Prediction of Eye, Hair and Skin Colour in Highly Decomposed Bodies.

Fabbri, Matteo / Alfieri, Letizia / Mazdai, Leila / Frisoni, Paolo / Gaudio, Rosa Maria / Neri, Margherita

Healthcare (Basel, Switzerland)

2023 Volume 11, Issue 5

Abstract: In the last few years, predicting externally visible characteristics (EVCs) by adopting informative DNA molecular markers has become a method in forensic genetics that has increased its value, giving rise to an interesting field called "Forensic DNA ... ...

Abstract	In the last few years, predicting externally visible characteristics (EVCs) by adopting informative DNA molecular markers has become a method in forensic genetics that has increased its value, giving rise to an interesting field called "Forensic DNA Phenotyping" (FDP). The most meaningful forensic applications of EVCs prediction are those in which, having only a DNA sample isolated from highly decomposed remains, it is essential to reconstruct the physical appearance of a person. Through this approach, we set out to evaluate 20 skeletal remains of Italian provenance in order to associate them with as many cases of missing persons as possible. To achieve the intended goal, in this work we applied the HIrisPlex-S multiplex system through the conventional short tandem repeats (STR) method to confirm the expected identity of subjects by evaluating phenotypic features. To investigate the reliability and accuracy of the DNA-based EVCs prediction, pictures of the cases were compared as they were available to researchers. Results showed an overall prediction accuracy greater than 90% for all three phenotypic features-iris, hair, and skin colour-at a probability threshold of 0.7. The experimental analysis showed inconclusive results in only two cases; this is probably due to the characteristics of subjects who had an intermediate eye and hair colour, for which the DNA-based system needs to improve the prediction accuracy.
Language	English
Publishing date	2023-02-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2721009-1
ISSN	2227-9032
ISSN	2227-9032
DOI	10.3390/healthcare11050647
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Article ; Online: Forensic Diagnosis of Freshwater or Saltwater Drowning Using the Marker Aquaporin 5: An Immunohistochemical Study.

Frisoni, Paolo / Diani, Luca / De Simone, Stefania / Bosco, Maria Antonella / Cipolloni, Luigi / Neri, Margherita

Medicina (Kaunas, Lithuania)

2022 Volume 58, Issue 10

Abstract: Background and ... ...

Abstract	Background and Objectives
MeSH term(s)	Humans ; Aquaporin 5/metabolism ; Biomarkers ; Drowning/diagnosis ; Forensic Pathology ; Fresh Water ; Water/metabolism
Chemical Substances	Aquaporin 5 ; Biomarkers ; Water (059QF0KO0R) ; AQP5 protein, human
Language	English
Publishing date	2022-10-15
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2188113-3
ISSN	1648-9144 ; 1010-660X
ISSN (online)	1648-9144
ISSN	1010-660X
DOI	10.3390/medicina58101458
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Article ; Online: Application of Forensic DNA Phenotyping for Prediction of Eye, Hair and Skin Colour in Highly Decomposed Bodies

Matteo Fabbri / Letizia Alfieri / Leila Mazdai / Paolo Frisoni / Rosa Maria Gaudio / Margherita Neri

Healthcare, Vol 11, Iss 647, p

2023 Volume 647

Abstract	In the last few years, predicting externally visible characteristics (EVCs) by adopting informative DNA molecular markers has become a method in forensic genetics that has increased its value, giving rise to an interesting field called “Forensic DNA Phenotyping” (FDP). The most meaningful forensic applications of EVCs prediction are those in which, having only a DNA sample isolated from highly decomposed remains, it is essential to reconstruct the physical appearance of a person. Through this approach, we set out to evaluate 20 skeletal remains of Italian provenance in order to associate them with as many cases of missing persons as possible. To achieve the intended goal, in this work we applied the HIrisPlex-S multiplex system through the conventional short tandem repeats (STR) method to confirm the expected identity of subjects by evaluating phenotypic features. To investigate the reliability and accuracy of the DNA-based EVCs prediction, pictures of the cases were compared as they were available to researchers. Results showed an overall prediction accuracy greater than 90% for all three phenotypic features—iris, hair, and skin colour—at a probability threshold of 0.7. The experimental analysis showed inconclusive results in only two cases; this is probably due to the characteristics of subjects who had an intermediate eye and hair colour, for which the DNA-based system needs to improve the prediction accuracy.
Keywords	forensic DNA phenotyping ; predictive DNA analysis ; HIrisPlex-S ; eye colour ; skin colour ; hair colour ; Medicine ; R
Subject code	612
Language	English
Publishing date	2023-02-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Tooth Cementum Thickness as a Method of Age Estimation in the Forensic Context.

Gualdi-Russo, Emanuela / Saguto, Ilaria / Frisoni, Paolo / Neri, Margherita / Rinaldo, Natascia

Biology

2022 Volume 11, Issue 5

Abstract: Estimating age at death is a key element in the process of human identification of skeletal remains. The interest in dental cementum stems from its increase in thickness throughout life and, at the same time, from the fact it should not be affected by ... ...

Abstract	Estimating age at death is a key element in the process of human identification of skeletal remains. The interest in dental cementum stems from its increase in thickness throughout life and, at the same time, from the fact it should not be affected by remodeling processes. Since the age assessment is particularly difficult in adults when using traditional anthropological methods on the skeleton, we tested a dental method based on maximum cementum thickness and developed new regression equations. We microscopically analyzed the histological sections of dental roots from a sample of 108 permanent teeth with known age and sex. Age at the time of dental extraction was in the range of 18-84 years. Our findings show that there were no differences in thickness between sexes, dental arch, and mono- and pluriradicular teeth. Separate regression equations were developed for individuals in the whole age range and individuals under 45 years. The equations were then tested on a hold-out sample from the same Mediterranean population demonstrating higher reliability for the equation developed for those under 45. Conversely, due to the increased error in age estimation in individuals over 45, this method should be used with caution in the forensic context when skeletal remains presumably belong to elderly individuals.
Language	English
Publishing date	2022-05-21
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2661517-4
ISSN	2079-7737
ISSN	2079-7737
DOI	10.3390/biology11050784
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Article ; Online: Age estimation using tooth cementum annulations: bias and sources of inaccuracy.

Gualdi-Russo, Emanuela / Saguto, Ilaria / Frisoni, Paolo / Neri, Margherita / Mongillo, Jessica / Rinaldo, Natascia

Frontiers in bioscience (Landmark edition)

2022 Volume 27, Issue 5, Page(s) 141

Abstract: Background: Counting the tooth cementum annulations (TCA) is a method for estimating the age at death of adults by sections of their tooth root. The objective of this study was to assess the precision of counting the cementum incremental lines and the ... ...

Abstract	Background: Counting the tooth cementum annulations (TCA) is a method for estimating the age at death of adults by sections of their tooth root. The objective of this study was to assess the precision of counting the cementum incremental lines and the congruence between known age and age estimates. Possible factors affecting the accuracy of the estimate were also analyzed. Methods: A sample of 67 permanent teeth extracted from individuals with known age (18-84 years) and sex was analyzed to calculate the dental age. Results: Results demonstrate an excellent inter- and intra-observer reliability of annuli counting, with dissimilarities within the limits of agreement. A moderate positive correlation was found between chronological age and TCA. Our results showed that age congruence rates differed across age groups (85% congruence in individuals ≤30 years; 75% in individuals aged 31-60 years; 60% in the over 60s). Considering the bias, this method showed a clear tendency to underestimate age in specimens from old people. After age 43, the TCA estimate is highly inaccurate exceeding the underestimation of 10 years, on average, in comparison to the chronological age. Both chronological age and dental arch seem to influence the accuracy of estimates, unlike sex and the tooth root number. Conclusions: TCA analysis is characterized by high precision and low accuracy, decreasing with age. Therefore, its applicability is limited in elderly subjects. The choice of methods for age estimation in adult skeletal remains should take into account the particular age range of individuals. We recommend using different age estimation methods to verify the reliability of the performed assessments.
MeSH term(s)	Adult ; Age Determination by Teeth/methods ; Aged ; Dental Cementum ; Humans ; Reproducibility of Results
Language	English
Publishing date	2022-05-30
Publishing country	Singapore
Document type	Journal Article
ZDB-ID	2704569-9
ISSN	2768-6698 ; 2768-6698
ISSN (online)	2768-6698
ISSN	2768-6698
DOI	10.31083/j.fbl2705141
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Article ; Online: Convulsions in a Young Scuba Diver.

Sartini, Stefano / Barbera, Paolo / Cutuli, Ombretta / Frisoni, Paolo / Spena, Claudio / Tallone, Roberto

Annals of emergency medicine

2020 Volume 77, Issue 1, Page(s) 124–137

MeSH term(s)	Adult ; Brain/diagnostic imaging ; Decompression Sickness/complications ; Decompression Sickness/diagnosis ; Decompression Sickness/diagnostic imaging ; Diving/adverse effects ; Emergency Service, Hospital ; Humans ; Male ; Neuroimaging ; Seizures/diagnostic imaging ; Seizures/etiology ; Tomography, X-Ray Computed ; Ultrasonography
Language	English
Publishing date	2020-12-21
Publishing country	United States
Document type	Case Reports ; Journal Article ; Video-Audio Media
ZDB-ID	603080-4
ISSN	1097-6760 ; 0196-0644
ISSN (online)	1097-6760
ISSN	0196-0644
DOI	10.1016/j.annemergmed.2020.07.017
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Article: Effect of Repeated Administration of ɣ-Valerolactone (GVL) and GHB in the Mouse: Neuroadaptive Changes of the GHB and GABAergic System.

Frisoni, Paolo / Corli, Giorgia / Bilel, Sabrine / Tirri, Micaela / Gasparini, Laura Camilla / Alfieri, Letizia / Neri, Margherita / De-Giorgio, Fabio / Marti, Matteo

Pharmaceuticals (Basel, Switzerland)

2023 Volume 16, Issue 9

Abstract: Background: Gamma-hydroxybutyric acid (GHB) at low dosages has anxiolytic effects and promotes REM sleep and low-wave deep sleep. In the U.S., the legal form of GHB is prescribed to adults suffering from narcolepsy-associated cataplexy; the sodium salt ... ...

Abstract	Background: Gamma-hydroxybutyric acid (GHB) at low dosages has anxiolytic effects and promotes REM sleep and low-wave deep sleep. In the U.S., the legal form of GHB is prescribed to adults suffering from narcolepsy-associated cataplexy; the sodium salt of GHB is reserved for alcohol-addiction treatment. GHB is also a molecule of abuse and recreational use, it is a controlled substance in several countries, so gamma-valerolactone (GVL) has frequently been used as a legal substitute for it. GHB's abuse profile is most likely attributable to its anxiolytic, hypnotic, and euphoric properties, as well as its widespread availability and inexpensive/low cost on the illicit market. Methods: Our study is focused on evaluating the potential effects on the mouse brain after repeated/prolonged administration of GHB and GVL at a pharmacologically active dose (100 mg/kg) through behavioral study and immunohistochemical analysis using the markers tetraspanin 17 (TSPAN17), aldehyde dehydrogenase 5 (ALDH5A1), Gamma-aminobutyric acid type A receptor (GABA-A), and Gamma-aminobutyric acid type B receptor (GABA-B). Results: Our findings revealed that prolonged administration of GHB and GVL at a pharmacologically active dose (100 mg/kg) can have effects on a component of the mouse brain, the intensity of which can be assessed using immunohistochemistry. The findings revealed that long-term GHB administration causes a significant plastic alteration of the GHB signaling system, with downregulation of the putative binding site (TSPAN17) and overexpression of ALDH5A1, especially in hippocampal neurons. Our findings further revealed that GABA-A and GABA-B receptors are downregulated in these brain locations, resulting in a greater decrease in GABA-B expression. Conclusions: The goal of this study, from the point of view of forensic pathology, is to provide a new methodological strategy for better understanding the properties of this controversial substance, which could help us better grasp the unknown mechanism underlying its abuse profile.
Language	English
Publishing date	2023-08-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2193542-7
ISSN	1424-8247
ISSN	1424-8247
DOI	10.3390/ph16091225
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Article ; Online: Age estimation using tooth cementum annulations

Emanuela Gualdi-Russo / Ilaria Saguto / Paolo Frisoni / Margherita Neri / Jessica Mongillo / Natascia Rinaldo

Frontiers in Bioscience-Landmark, Vol 27, Iss 5, p

bias and sources of inaccuracy

2022 Volume 141

Abstract	Background: Counting the tooth cementum annulations (TCA) is a method for estimating the age at death of adults by sections of their tooth root. The objective of this study was to assess the precision of counting the cementum incremental lines and the congruence between known age and age estimates. Possible factors affecting the accuracy of the estimate were also analyzed. Methods: A sample of 67 permanent teeth extracted from individuals with known age (18–84 years) and sex was analyzed to calculate the dental age. Results: Results demonstrate an excellent inter- and intra-observer reliability of annuli counting, with dissimilarities within the limits of agreement. A moderate positive correlation was found between chronological age and TCA. Our results showed that age congruence rates differed across age groups (85% congruence in individuals ≤30 years; 75% in individuals aged 31–60 years; 60% in the over 60s). Considering the bias, this method showed a clear tendency to underestimate age in specimens from old people. After age 43, the TCA estimate is highly inaccurate exceeding the underestimation of 10 years, on average, in comparison to the chronological age. Both chronological age and dental arch seem to influence the accuracy of estimates, unlike sex and the tooth root number. Conclusions: TCA analysis is characterized by high precision and low accuracy, decreasing with age. Therefore, its applicability is limited in elderly subjects. The choice of methods for age estimation in adult skeletal remains should take into account the particular age range of individuals. We recommend using different age estimation methods to verify the reliability of the performed assessments.
Keywords	age estimation ; forensic anthropology ; cementochronology ; tooth cementum annulations ; Biochemistry ; QD415-436 ; Biology (General) ; QH301-705.5
Subject code	930
Language	English
Publishing date	2022-04-01T00:00:00Z
Publisher	IMR Press
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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