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"MAMELI, A."
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A Ge.F.I. – ISFG European collaborative study on DNA identification of Cannabis sativa samples using a 13-locus multiplex STR method
2021
Cannabis sativa is the most used controlled substance in Europe. With the advent of new and less restrictive European laws on cannabis sale for recreational use (including in Italy), an increase in indoor cannabis crops were observed. This increase was possible due to the availability of cannabis seeds through the internet market. Genetic identification of cannabis can link seizures and if in possession then might aid in an investigation. A 13-locus multiplex STR method was previously developed and validated by Houston et al. A collaborative exercise was organized by the Italian Forensic Geneticists – International Society of Forensic Genetics (Ge.F.I. – ISFG) Working Group with the aim to test the reproducibility, reliability and robustness of this multiplex cannabis STR kit. Twenty-one laboratories from three European countries participated in the collaborative exercise and were asked to perform STR typing of two cannabis samples. Cannabis DNA samples and the multiplex STR kit were provided by the University of Barcelona and Sam Houston State University. Different platforms for PCR amplification, capillary electrophoresis (CE) and genotyping software were selected at the discretion of the participating laboratories. Although the participating laboratories used different PCR equipment, CE platforms and genotyping software, concordant results were obtained from the majority of the samples. The overall genotyping success ratio was 96%. Only minor artifacts were observed. The mean peak height ratio was estimated to be 76.3% and 78.1% for sample 1 and sample 2, respectively. The lowest amount of −1 / + 1 stutter percentage produced, when the height of the parent allele was higher than 8000 RFU, resulted to be less than 10% of the parent allele height. Few common issues were observed such as a minor peak imbalance in some heterozygous loci, some artifact peaks and few instances of allelic drop-out. The results of this collaborative exercise demonstrated the robustness and applicability of the 13-locus system for cannabis DNA profiling for forensic purposes.
•A collaborative exercise was carried out between 2020 and 2021 within ISFG-Ge.F.I.•The exercise was focused on a 13-locus multiplex Cannabis sativa STR kit.•The outcome was that typing success percentage varied from 69.2% to 100%.•Some training on this new Forensic Plant STRs will be necessary.
Journal Article
A Diagnostic of Acquired Hemophilia Following PD1/PDL1 Inhibitors in Advanced Melanoma: The Experience of Two Patients and a Literature Review
by
Castro, Dante
,
Donadoni, Mattia
,
La Cava, Leyla
in
acquired hemophilia A (AHA)
,
Anemia
,
Antibodies
2022
Acquired hemophilia A (AHA) is a rare bleeding disorder caused by the development of specific autoantibodies against factor VIII (FVIII). Immunotherapy is a recent therapeutic option that targets the patient’s self-tolerance against tumor cells. Because therapeutic effects of the immune checkpoint inhibitors (ICIs) are mediated by enhancing the immune response to restore antitumor immunity, autoimmune-related adverse effects can be seen in up to 80% of patients during treatment and after treatment. A rare hematologic ICIs-related adverse event is AHA. Hereafter we report two cases of AHA developed during anti-PD-1 immunotherapy for advanced melanoma: one secondary to treatment with nivolumab and one secondary to pembrolizumab. Both patients were treated with activated FVII (Novoseven®, Novo Nordisk, Bagsværd, Denmark) as hemostatic treatment combined with the eradication of antibodies anti-FVIII obtained with rituximab. In the last few years these drugs have significantly improved the therapeutic armamentarium for the management of AHA. Indeed, while FVIIa has proven to be an effective and safe tool for the treatment of acute bleeding related to FVIII autoantibodies, rituximab is a promising alternative for the autoantibodies’ elimination and the restoration of normal hemostasis. Our finding supports the use of this combination even in AHA secondary to ICIs treatment.
Journal Article
A “Catastrophic” Heparin-Induced Thrombocytopenia
by
Melis, M.
,
Barcellona, D.
,
Mameli, A.
in
Antibodies
,
Anticoagulants
,
Anticoagulants (Medicine)
2020
Background. Heparin-induced thrombocytopenia (HIT) is a transient, antibody-mediated thrombocytopenia syndrome that usually follows exposure to unfractioned heparin (UFH) or low-molecular-weight heparin (LMWH). In contrast to other pathological conditions which lead to thrombocytopenia and bleeding complications, HIT results in a paradoxical prothrombotic state. It is caused by antibodies directed to complexes containing UFH or LMWH and a self-platelet protein: the platelet factor 4 (PF4). The heparin-PF4 immune complex leads to activation of platelets, monocytes, and endothelial cells which release procoagulant proteins and tissue factor with subsequent blood coagulation activation. Case Report. We describe the case of a woman undergone to knee replacement and affected by urosepsis who developed a HIT after exposure to enoxaparin. The thrombotic burden was very impressive involving the arterial and venous cerebral vessel and the venous pulmonary, hepatic, and inferior legs vascular beds. The patient was successfully treated with fondaparinux without recurrent thrombosis or bleeding. The clinical scenario could be named “catastrophic HIT” like the catastrophic antiphospholipid syndrome since they have a similar pathogenetic mechanism involving both platelets and monocytes procoagulant activities and a similar clinical manifestation with a life-threatening multiple arterial and/or venous thromboses. Conclusion. Patients presenting with HIT could show a very impressive thrombotic burden resembling to that of the catastrophic antiphospholipid syndrome. A careful differential diagnosis should be made towards other pathological conditions which lead to thrombocytopenia to avoid an unnecessary and potentially harmful platelet transfusion. Although fondaparinux is off-label, its use in patients with HIT is simple and seems to be effective.
Journal Article
Analysis of a Genetic Isolate: The Case of Carloforte (Italy)
2012
We reviewed data collected during several studies concerning the genetic isolate of Carloforte (Sardinia, Italy) and analyzed new data on Y-chromosome markers. Carloforte is also a language island, where people still speak Tabarchino, an archaic form of Ligurian dialect. Demographic data indicate that, in the early years of its history, the Carloforte population was characterized by a high degree of endogamy and consanguinity rates that started to decrease around 1850, when marriages with Sardinian people began to occur more frequently. Cultural factors, mainly language, account for the high endogamy. Genetic data from classical markers, mtDNA, and Y-chromosome markers confirmed the strong isolation of the Carloforte population, which appears significantly different from the neighboring population of Sardinia. Analysis of mtDNA emphasizes the crucial aspect of sampling strategy—two different samplings of the same population (one based on founder surnames; the other one based on grandparents' criterion) gave different results. Founder surnames sampling is not affected by recent events, and therefore it better describes the ancestral population, whereas, grandparents' criterion sampling gives a picture of the present population, shaped by more recent events, such as migration and gene flow. This review further supports the notion that a comprehensive approach, including a detailed knowledge of the history of the population and the collection of different samplings, is essential in anthropology for reconstructing past and recent events that contributed to establishing the present genetic structure of the population. Likewise, it is essential in medical genetics to identify genes involved in complex diseases. An ideal scenario is offered by a genetic isolate with a recent, and well-documented, history, such as Carloforte, that can be a paradigm for this type of investigation.
Journal Article
Antiphospholipid antibodies in patients with scleroderma: prevalence and clinical significance
2005
Characteristics Limited Diffuse All (n = 18) (n = 7) (n = 25) Calcinosis 2 1 3 Raynaud's phenomenon 17 6 23 Oesophageal dysmotility 9 4 13 Sclerodactyly 17 5 22 Telangiectasia 6 2 8 Pulmonary manifestations 11 5 16 Interstitial lung disease 10 5 15 Pulmonary hypertension 3 0 3 Cardiac manifestations 1 0 1 Renal manifestations 0 0 0 Bowel disease 0 0 0 *All patients were attending the 2nd Chair of Rheumatology, Rheumatology Division and Centre for Systemic Rheumatic Diseases, Cagliari University Hospital, Cagliari, Italy. aCL, anti-β2GPI, and aPS-PT were detected by enzyme linked immunosorbent assay (ELISA).
Journal Article
Analysis of monoamine oxidase A (MAO-A) promoter polymorphism in male heroin-dependent subjects: behavioural and personality correlates
2004
The promoter of the monoamine oxidase A (MAO-A) gene was analysed to test whether length variation of the repeat polymorphism contributes to variation in individual vulnerability to aggressive-criminal behaviour, and liability to heroin dependence. The repeat number of the MAO-A polymorphism was assessed in 199 male subjects of Italian descent, a sample comprising 95 healthy subjects and 104 heroin-dependent subjects including 52 addicted individuals with violent behaviour and antisocial personality disorder. The frequency of the low-activity 3-repeat allele was significantly higher in violent offenders among heroin addicts, compared to addicted individuals without antisocial behaviour (34.6 vs. 15.4%; p<0.03) and controls (18.9%; p<0.05). No significant difference was evidenced in the frequencies of the MAO-A alleles between heroin-dependent subjects in general and control subjects. High activity 4-repeat allele frequency was significantly higher in addicted individuals without antisocial behavior compared to antisocial-aggressive heroin-dependent subjects (76.9 vs. 55.8%; p<0.02). Buss Durkee Hostility Inventory (BDHI) mean total scores were significantly higher in heroin addicts than in controls (p<0.001), and in antisocial-violent heroin addicts in comparison with addicted individuals without antisocial behaviour (p<0.005). Among heroin addicts BDHI irritability, suspiciousness and resentment subscales scores were found significantly higher in low activity 3-repeat allele subjects than in high activity alleles subjects (p<0.001; p<0.05; p<0.05, respectively). No association was found between MAO-A polymorphism and suicide history. Our findings suggest that the low-activity 3-repeat allele of the MAO-A promoter polymorphism confers increased susceptibility to antisocial-violent behavior and aggressiveness, rather than drug dependence per se, in heroin-dependent males.
Journal Article
IFN-αα induced psoriatic arthritis and HCV-related liver cirrhosis. Therapeutic options and patient’s opinion
Hepatitis C virus (HCV) infection in the setting of Psoriatic Arthritis is an additional variable to be considered in the therapeutic approach to the disease because of the complications of an immunosuppressive treatment in the course of a chronic infection and the possible hepatotoxicity of many drugs conventionally used to treat psoriatic arthritis. The case reported explores the therapeutic options in a patient with IFN-α induced psoriatic arthritis, characterised by severe arthritis and psoriasis but also the concomitant presence of HCV chronic hepatitis, in light of the patient’s concerns
Journal Article
Stopping the Illegal Trafficking of Human Beings: How Transnational Police Work Can Stem the Flow of Forced Prostitution
2002
The transnational sex industry experienced a surge during the 1990s with the breakup of the former Soviet Union. The virtual enslavement of a growing number of women into the global prostitution market from this region of the world has begun to be documented in an ongoing manner by independent nongovernmental organizations that track migration patterns & international criminal activity. The emergence of this phenomenon in Europe expands the study of the transnational sex industry well beyond Southeast Asia & Asia, where it has been examined primarily to date. Governments & international governmental organizations such as the UN are also now focusing on this issue from local & global perspectives. In this paper, the roles that transnational police organizations can play, & have been playing, regarding preventing & investigating the activities of the transnational sex industry, are explored. After sketching the scope of the problem, identifying the players of interest, & examining the roles that they have been performing to date, recommendations are offered for strengthening police response in this area. Adapted from the source document.
Journal Article