Management of the corpse with suspect, probable or confirmed COVID-19 respiratory infection \u2013 Italian interim recommendations for personnel potentially exposed to material from corpses, including body fluids, in morgue structures and during autopsy practice.

non disponibil

Withdrawal of mechanical ventilation in amyotrophic lateral sclerosis patients: a multicenter Italian survey

Background: Law 219/2017 was approved in Italy in December 2017, after a years-long debate on the autonomy of healthcare choices. This Law, for the first time in Italian legislation, guarantees the patient's right to request for withdrawal of life-sustaining treatments, including mechanical ventilation (MV). Objective: To investigate the current status of MV withdrawal in amyotrophic lateral sclerosis (ALS) patients in Italy and to assess the impact of Law 219/2017 on this practice. Methods: We conducted a Web-based survey, addressed to Italian neurologists with expertise in ALS care, and members of the Motor Neuron Disease Study Group of the Italian Society of Neurology. Results: Out of 40 ALS Italian centers, 34 (85.0%) responded to the survey. Law 219/2017 was followed by an increasing trend in MV withdrawals, and a significant increase of neurologists involved in this procedure (p 0.004). However, variations across Italian ALS centers were observed, regarding the inconsistent involvement of community health services and palliative care (PC) services, and the intervention and composition of the multidisciplinary team. Conclusions: Law 219/2017 has had a positive impact on the practice of MV withdrawal in ALS patients in Italy. The recent growing public attention on end-of-life care choices, along with the cultural and social changes in Italy, requires further regulatory frameworks that strengthen tools for self-determination, increased investment of resources in community and PC health services, and practical recommendations and guidelines for health workers involved

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p

Pulmonary macrophages activity in CO intoxication

The presence of macrophages and their activation on the pulmonary tissues of 21 subjects deceased after CO intoxication has been studied. A notable number of activated macrophages, especially in the interstitial level, have been evidenced, and such phenomenon supports the hypothesis of a possible association between CO intoxication and pulmonary macrophages activity. The highlighted association could be mediated by changes of the surfactant, by impairing of mitochondrial respiration and by release of pro-inflammatory cytokines

On a defective Mitraclip® system: Considerations on the medical device regulation in Europe

The use of medical devices is constantly growing and constitutes a valid aid to ailing people because of remarkable technological advances. The regulations on their circulation in Italy and Europe are inspired by the principle of free circulation: it is sufficient for a device to have the CE logo for it to be freely commercialized in all European countries. These regulations that favors commerce also expose the sick to the risk of harm from defective devices that have not been suitably checked prior to commercial release. This paper reports a case of a defective MitraClip® Delivery System, discusses other episodes of similar device malfunctioning, and analyzes the European legislation on medical devices. In the author's opinion, a careful "control" policy for devices, an adequate care in device manufacturing, an appropriate evaluation of pre- and post-marketing and suitable measures for the patient's safety are needed

Sudden Death from Primary Cerebral Melanoma: Clinical Signs and Pathological Observations

Primary cerebral tumors rarely provoke sudden death. The incidence is often underestimated with reported frequencies in the range of 0.02 to 2.1% in medicolegal autopsy series. Furthermore, primary cerebral melanoma is an uncommon neoplasm. It represents approximately 1% of all melanoma cases and 0.07% of all brain tumors. This neoplasm is very aggressive, and its annual incidence is about 1 in 10 million people. In the present study, a 20-year-old male was admitted to hospital with vomiting, headache, paresthesia and aggressive behavior. A computed tomography (CT) scan of the head was performed showing a hyperdense nodule in the right parietal lobe with inflammation of the Silvian fissure. A complete autopsy was performed 48 h after death. A blackish material was displayed on the skull base, and posterior fossa. Microscopic examination diagnosed primary brain melanoma. A systematic review of the literature was also performed where no previous analogous cases were found. The forensic pathologist rarely encounters primary cerebral melanoma, and for these reasons, it seemed appropriate to describe this case as presenting aspecific clinical symptoms and leading to sudden unexpected death. Histopathological observations are reported and discussed to explain this surprising sudden death caused by a primary cerebral melanoma

Italian Mafia: A focus on Apulia Mafia with A literature review

The goal of this paper is a systematic literary review that analyzes the differences between the main Apulia's Mafia organizations and their distinctive murder methods. In homicides committed by criminal organization, the method used intends to be an admonition to other persons. We analyze the criminal organization named "Mafia of Gargano", that is a promontory of Apulia Region, in South-East of Italy. We analyze its homicidal mode, the type of weapon used in murders, the drawn body sites and the action recurrence. Previously named "Faida" of Gargano, the "Garganic Mafia" was certified by legal court as an inveterate mafia system only in 2009. In fact, in the Garganic area an archaic and violent mafia arise for theft of animals; subsequently, the most profitable activities of these clans became drug and weapons trafficking. The "Garganic Mafia" is an extremely traditional Mafia, like "Camorra", with particularly practices of cadaver concealment. Very often, utilizing natural conformation of Gargano promontory, the criminals throw away the bodies into natural canyons. In this manner, the cadavers are discovered after many years accidentally: this method was classified as "Lupara Bianca". Another kind of Apulia's Mafia is the so called "Sacra Corona Unita" (SCU). Originally it was founded by the Camorra's boss but it's inspired by Calabrian 'Ndrangheta: both these mafia associations was found in south of Italy, Camorra in Campania Region and 'Ndragheta in Calabria Region. In the murders committed by the SCU was frequent the recourse to deception to attract the victim, the use of the gun and the method of "Lupara Bianca" with the burning of the body. As previously described, the kind of the murder represents the signature of the mafia organization. These finding are very useful for investigations, helping to identify crime's motivations and the correlation with suspects