Molecular autopsy in sudden cardiac death and genetic screen in arrhythmogenic cardiac syndromes.

Sudden cardiac death (SCD) is one of the most important mode of death in Western Countries and remains a major public health problems; is responsible for half of all deaths due to cardiovascular disease. New methods of preventing potentially fatal arrhythmias have been developed, and the accurate diagnosis of the causes of Sudden Cardiac Death is now of particular importance. In recent years researchers have identified the genetic background of many diseases involving the myocardium, and many Cardiomyopathies are considered to have a genetic origin. Specialized myocytes of the cardiac conduction system are essential to coordinate sequential contraction of cardiac atria and ventricles. Anomalies of the cardiac conduction system can result in lethal cardiac arrhythmias, including sick sinus syndrome and atrial or ventricular fibrillation. In particular, we studied the HCN4-gene, have been associated with sinus node dysfunction. Tetramers of HCN subunits constitute the ion channels that conduct the hyperpolarization-activated “funny” current (If), which plays an important modulating role in sinus atrial node-pacemaker activity. In our contribution, we examined the HCN4-gene in cases of sudden cardiac death. The adequate assessment of Sudden Cardiac Death, including not only a protocol for the Autopsy, heart examination and histological sampling, but also for molecular genetic investigation

SUDDEN UNEXPLAINED JUVENILE DEATH AND THE ROLE OF MEDICOLEGAL INVESTIGATION: UPDATE ON MOLECULAR AUTOPSY

In the past few years, contributions of molecular biology assays to the investigation of sudden juvenile death have permitted to clarify some of the pathogenetic aspects of sud-den arrhythmic death, opening the way to preventive action on victims’ relatives. We reviewed literature on the genetics of sudden juvenile death, and on molecular biol-ogy assays performed on autoptic samples. Biological investigation permits the detection of genetic mutations underlying the suscep-tibility to sudden cardiac death of individuals with rare inherited forms of arrhythmia (Long QT Syndrome, Brugada Syndrome, Lev’s disease etc.) through the analysis of criti-cal sequences codifying for ion channel subunits (HERG, KvLQT1, MinK, Mirp1, SCN5A, KCNQ1, KCNH2, KCNE1, KCNE2).The main objective of post-mortem investigation in sudden juvenile death is the detection of treatable monogenic inherited disorders, in order to prevent further deaths among the relatives of the deceased patient

GHB: farmaco, sostanza d’abuso e droga da stupro: diverse tipologie di uso, differenti problematiche analitico-forensi

L’acido gamma-idrossibutirrico (GHB) è un neurotrasmettitore con effetti gaba-mimetici; si tratta di un composto endogeno, ma notoriamente usato per le applicazioni terapeutiche come anestetico per via endovenosa, come sedativo e per il trattamento della narcolessia. Dagli anni ‘80 è comune sostanza usata come doping, quindi emerge come droga da “tempo libero” nei rave-party; più recentemente, i supposti effetti afrodisiaci e la reale capacità di induzione di amnesia retrograda ne hanno indotto l’utilizzazione quale sostanza in grado di ridurre la capacità di resistenza della vittima di uno stupro annoverandola tra le cosiddette “date rape drugs” (Drug facilitated sexual assault, DFSA), e cioè sostanze psicoattive usate per lo stupro cosiddetto “dopo appuntamento”1. Nel presente contributo si riporta l’approccio metodologico relativamente a due differenti scenari di interesse forense: l’abuso del GHB con quadro di dipendenza patologica e l’uso del GHB come droga da stupro; gli Autori illustrano le modalità di indagine per determinare il GHB nelle differenti matrici biologiche. Conclusioni: gli scenari d’abuso qui presentati rafforzano il concetto che l’analitica tossicologica rivolta alla determinazione del GHB, per tutte le evenienze riguardanti l’uso/abuso e le possibili implicazioni legali, deve realizzarsi secondo canoni analitici convalidati

Death of a 23-year-old man from cardiac conduction system injury through a blunt chest impact after a car accident.

Cardiac contusion, usually caused by blunt chest trauma, has been recognized with increased frequency over the past decades. Traffic accidents are the most frequent causes of cardiac contusion resulting from a direct blow to the chest. Myocardial contusion is difficult to diagnose; the clinical presentation varies greatly, ranging from a lack of symptoms to cardiogenic shock and arrhythmia. Although death is rare, cardiac contusion can be fatal. The Authors report a case of death due to a cardiac conduction system injury from a blunt chest impact following a car accident. The autopsy showed no external signs of thoracic trauma, no evident rib or sternum fractures. A small subendocardial hemorrhage was found in the region of the atrioventricular node. Histological examination revealed an injury of the atrioventricular node and His' bundle. The cause of the death was attributed to the arrhythmia induced by contusion of the cardiac conduction system

Role of MDCT virtopsy in valuation of burned bodies and its comparison with traditional autopsy

The objective of virtopsy is not only to improve the objectivity of findings made by traditonal autopsy but also to solve those cases that are difficult to solve with conventional post-mortem examination. Modern cross-sectional imaging and postprocessing techniques can provide strong forensic evidence for use in legal proceedings; particularly we want to show how it can supplement traditional autopsy of burned cadavers, helping finding the primary cause of the death, the presence of foreign bodies and the identification of the corpses

Role of virtopsy in the postmortem diagnosis of drowning

Drowning is the third leading cause of unintentional injury death worldwide, accounting for 7% of all injury related deaths[1]. The autopsy diagnosis of drowning is one of the major problems in forensic medicine, especially when there is delay in recovering the corpse[2]. The main limit in the diagnosis of drowning is that even if a body is recovered from sea water, it may not have drowned and the proof that death was due to drowning may constitute a difficult problem to solve in forensic medicine. Due to the admitted limits of autopsy-based studies in the diagnosis of drowning, virtopsy is considered the new imaging horizon in these post-mortem studies[3-6]. The aim of our study was to evaluate the role of virtopsy performed through CT in forensic diagnosis of drowning

Una riflessione Medico-Legale sulle linee guida di cui alla c.d, "Balduzzì": la metodologia nell’accertamento del nesso causale in penale Ruolo della perizia nel processo penale

Gli autori effettuano una analisi delle caratteristiche che deve possedere il perito/consulente tecnico del Giudice nell'ambito dell'attività espletata nei casi di responsabilità professionale medica alla luce della Legge Balduzzi e di quanto dettato dal vigente Codice deontologico. Viene infine effettuato un escursus sul valore delle linee guid

Fibroelastosi endocardica congenita in coso di autopsia fetale per sospetta malpractice professionale. Caso clinico e revisione della letteratura

Gli Autori presentano il caso di una donna giunta alla 39,4 settimana di gestazione, regolarmente sottoposta ad esami clinici e strumentali che evidenziavano un decorso regolare della gravidanza eccetto oligoamnios. La paziente espletava il parto con feto nato vivo ma non vitale. L'esame esterno del cadavere evidenziava esclusivamente cianosi generalizzata. L'esame autoptico ha evidenziato cardiomegalia con incremento di tutte le cavità cardiache con rapporto cardio-toracico 6.5/8.5 ed un aspetto porcellanaceo delle pareti ventricolari di sinistra. All'istologia tale ispessimento era causato da fibroelastosi diffusa dell'endocardio associata a marcata miocitolisi colliquativa del miocardio subendocardico. Si sottolineano gli emergenti possibili profili di responsabilità inerenti l'errore nella diagnosi pre-natale e nell'approccio terapeutico nella fase immediatamente successiva al parto