1,720,995 research outputs found

    Did Giovanni dalle Bande Nere become a legendary condottiero because of his MAOA gene?

    Full text link
    We einvestigatedthelegendaryReinassancecondottieroGiovanni Dalle Bande Nere (1498–1526) by extracting DNA from a fragment of his left femur,obtained by on e of the authors (GF), who performed the body exhumation and examination. MAOA genotyping was performed by Polymerase Chain Reaction (PCR) amplification. The size of the product was estimated by comparison with two samples with known genotypes. Giovanni dalle Bande Nere carried the MAOA2-repeat Low-activity allele very rare variant, found only in 0.1% of Caucasian males. We propose that the association between the rare genetic variant resulting in a reduced MAOA activity and the neglecting childhood environment may have significantly contributed to Giovanni's impressive aggressive behavior

    An unusual pedestrian road trauma: From forensic pathology to forensic veterinary medicine.

    No full text
    Traffic accidents have increased in the last decade, pedestrians being the most affected group. At autopsy, it is evident that the most common cause of pedestrian death is central nervous system injury, followed by skull base fractures, internal bleeding, lower limb haemorrhage, skull vault fractures, cervical spinal cord injury and airway compromise. The attribution of accident responsibility can be realised through reconstruction of road accident dynamics, investigation of the scene, survey of the vehicle involved and examination of the victim(s). A case study concerning a car accident where both humans and pets were involved is reported here. Investigation and reconstruction of the crime scene were conducted by a team consisting of forensic pathologists and forensic veterinarians. At the scene investigation, the pedestrian and his dog were recovered on the side of the road. An autopsy and a necropsy were conducted on the man and the dog, respectively. In addition, a complete inspection of the sports utility vehicle (SUV) implicated in the road accident was conducted. The results of the autopsy and necropsy were compared and the information was used to reconstruct the collision. This unusual case was solved through the collaboration between forensic pathology and veterinary forensic medicine, emphasising the importance of this kind of co-operation to solve a crime scene concerning both humans and animals

    A complex case of paternity testing

    Full text link
    The report describes a complex case of paternity identification managed at Forensic Genetic laboratory of CEINGE Advanced Biotecnology in Naples (Italy). A woman requested a paternity testing to know whether a man was the father of her child. Buccal swabs were used to obtain DNA specimens. The child's autosomal profile presented a mixed profile. After exclusion of possible sources of contamination, this scenario was compatible with a mother/son mixture. Actually, the child, affected by acute lymphoblastic leukemia, underwent to an allogeneic hematopoietic stem cell transplantation with his mother as donor a few years before. The PowerQuant® System highlighted a concentration autosomal/Y ratio of almost 2. In the absence of the recipient's autosomal profile prior the transplant, the known maternal profile and the mixed child profile were compared locus by locus. The pairs of mother-son alleles for each locus were identified applying the deconvolution rules of the two contributors in the mixture, where one of them is known. Hence, we chose the most probable pair, considering the profile mixture ratio woman/man of 1.8. According to the International Society for Forensic Genetics guidelines, the biostatistical interpretation was based on a likelihood ratio (LR) approach. Furthermore, LRmix and Familias 3 software were used to interpret the mixture and the kinship. This case highlights that we should bear in mind the possible occurrence of chimerism in reference material derived from buccal swabs, if a subject had an allogeneic hematopoietic stem cell transplantation. In similar case, other specimens, like hair roots, should be used, provided that they are available

    Quantitative optical coherence tomography angiography parameters in type 1 macular neovascularization secondary to age-related macular degeneration

    No full text
    Purpose: The purpose of this paper was to study type 1 macular neovascularization (MNV) quantitative optical coherence tomography (OCT) angiography (OCTA) features by means of advanced postprocessing analyses. Methods: We recruited patients affected by naïve type 1 MNV secondary to agerelated macular degeneration (AMD) and age-matched controls. All patients underwent ophthalmologic examination and multimodal imaging. They were treated with pro-re-nata anti-VEGF injections. The ensuing follow-up lasted 24 months. Quantitative OCT and OCTA parameters were statistically analyzed to obtain cutoff values able to distinguish two clinically different patient subgroups. Main outcome measures were best-corrected visual acuity (BCVA), central macular thickness, vessel density of superficial, deep and choriocapillaris plexa, vessel tortuosity (VT) of MNV, vessel dispersion of MNV, number of injections, blooding, pigment epithelium detachment, subretinal fluid, photoreceptor elongation, subretinal fibrosis, and outer retinal atrophy. Results: Ninety-one eyes (91 patients; 49 men; mean age 78 ± 7 years) and 91 control eyes were included. Mean logarithm of the minimum angle of resolution (logMAR) BCVA was 0.46 ± 0.56 at baseline, increasing up to 0.29 ± 0.30 after 2 years of treatment (P < 0.01). The mean number of intravitreal injections was 7.1 ± 2.0 during the first year and 4.5 ± 1.4 during the second year. A baseline VT cutoff of 8.40 detected two patients’ subgroups differing significantly in terms of BCVA improvement after 2 years of treatment. Conclusions: OCTA-based classification of type 1 MNV, performed at baseline, provided useful information in terms of the functional outcome achievable after 24 months of anti-VEGF treatment. Translational Relevance: Quantitative OCTA-based classification of type 1 MNV, performed at baseline, provided useful information in terms of the functional outcome achievable after 24 months of anti-VEGF treatment

    Humoral Response and Safety after a Fourth Dose of the SARS-CoV-2 BNT162b2 Vaccine in Cancer Patients Undergoing Active Treatment—Results of a Prospective Observational Study

    No full text
    Only a few studies have been carried out on the efficacy and safety of a fourth dose of the COVID-19 vaccine in patients with cancer. In this prospective observational study, we aimed to assess the serological response and safety of the fourth booster shot of the BNT162b2 vaccine in 79 cancer patients, vaccinated between 1 March and 25 August 2022, under systemic anticancer therapy. The primary endpoint was to assess the increase in the anti-SARS-CoV-2 antibodies; secondary endpoints were the vaccine safety and side effects. Consequently, 40 patients (50.63%) revealed the maximum detection values in their IgG titers before the fourth dose of the vaccine, while 39 patients (49.37%) did not. Primary endpoint: Of 39 patients, 36 (92.31%) showed a significant increase in the anti-SARS-CoV-2 IgG titers, and 32 of them (82.05%) reached the maximum titration values. Secondary endpoints: The most common adverse events were mild in severity and included injection site pain, erythema and tiredness. The majority of the adverse reactions reported were grade 1 and no grade 3 and 4 reactions were detected. Our data provide evidence that a fourth dose of the BNT162b2 anti-SARS-CoV-2 vaccine is effective and safe in patients with solid tumors in active anticancer treatment
    corecore