RESUMO
Venous thromboembolism (VTE) is a multifactorial disease determined by a combination of inherited and acquired factors. Inherited factors include mutations in the genes coding for coagulation factors, some of which seem to exert a differential influence on the risk of developing deep vein thrombosis (DVT) and pulmonary embolism (PE). In post-mortem studies of subjects who have died from pulmonary embolism (PE), the analysis of the factors that may have augmented the VTE risk is often limited to acquired factors. This is due to the complexity-and sometimes the unfeasibility-of analyzing genetic factors and to insufficient knowledge of their individual roles in PE development. The present study used formalin-fixed paraffin-embedded (FFPE) tissue to investigate a panel of 12 polymorphisms-the largest ever studied-that affect the VTE risk. Tissue samples came from post-mortem examinations performed by the specialists of the Section of Legal Medicine of the Department of Pathology of Marche's Polytechnic University, and by the specialists of Health Care District Hospital of Imola, on 44 subjects who died from PE in the period 1997-2014. All individuals were found to have at least one mutation affecting the VTE risk. The present study demonstrates that genetic analysis can be performed post-mortem and the results are useful for forensic investigations, especially from MTHFR C677T and PAI-1 4G/5G polymorphisms. Broader studies using the techniques described herein are needed to determine the relative influence of the individual polymorphisms and their interaction in PE deaths.
Assuntos
Predisposição Genética para Doença , Polimorfismo Genético , Embolia Pulmonar/genética , Trombofilia/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Fator V/genética , Fator XIII/genética , Feminino , Fibrinogênio/genética , Formaldeído , Glucuronidase/genética , Heterozigoto , Humanos , Lipoproteínas/genética , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Pessoa de Meia-Idade , Inclusão em Parafina , Inibidor 1 de Ativador de Plasminogênio/genética , Reação em Cadeia da Polimerase , Protrombina/genética , Tromboembolia Venosa/genéticaRESUMO
Two motorcycle riders lost control of their vehicle, fell, and hit a guardrail, which acted as a blade and led to a rapid, fatal outcome. In one case, the high velocity of the body at the time of the impact resulted in complete detachment of the trunk. Reconstruction of the accident dynamics enabled the guardrail post to be identified as the means of injury in both cases. The two accidents occurred over a short period of time, highlighting a dangerous phenomenon that in less severe cases is presumably associated with different degrees of survivor disability. The accidents deserve mention, because a different design of the impact surface of the guardrail post might have prevented the lethal outcome. There is an urgent need for legislators to pass regulations that modify crash barrier homologation criteria, which have been devised primarily for the safety of car passengers but fail to protect motorcyclists.
