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Forensic genetics is a rapidly evolving science thanks to the growing variety of genetic markers, the establishment of faster, less error-prone sequencing technologies, and the engineering of bioinformatics models, methods, and structures. In the early 2000s, the need emerged to create an international genetic database for forensic purposes. This paper describes a judicial investigation of skeletal remains to identify the subject using various methods. The anthropological examination of the remains allowed identification of the Caucasoid (European) ethnic group, a height of 156 ± 4 cm, and an age between 47 and 50 years. The genetic profiles obtained from typing several microsatellites made it possible to evaluate the compatibility between the skeletal remains and the suspected decedent. To identify the remains, the two extrapolated genetic profiles were compared. The case described highlights the central role of forensic genetics in identifying skeleton remains by means of comparison. [ABSTRACT FROM AUTHOR]

Fuel-driven cars are widely considered unsustainable and contrary to the new paradigm of smart growth planning. The need to reform transport behavior, policies, and infrastructure is among the priorities in urban policies around the world. Electric vehicles are an emerging technology that could advance sustainability programs. In the past year, there has been a rapid increase in the diffusion of electric scooters in several European cities, but various states have been unprepared for the rapid spread of green micro-mobility from a regulatory point of view. In addition, in parallel with the spread, there have been numerous road collisions involving standing electric scooters. The aim of this study was to obtain a detailed view of this phenomenon. We focused on the current legislation on electric micro-mobility at the European level to study and summarize the different attitudes adopted by various states whose regulations are present on the web. (It was not possible to evaluate the regulations of all European countries because they are not all available on online platforms.) The elements assessed in the various regulation were age limits, speed limits, compulsory use of helmets, administrative penalties, and the obligation to insure the new e-vehicle (standing scooter). In this study, we analyze the state of the art in electric micro-mobility, highlight the current situation's limits, and propose new strategies to adequately integrate this new smart vehicle into the urban transport network. [ABSTRACT FROM AUTHOR]

In forensic pathology, apparently straightforward cases can often hide rarities that, if not correctly interpreted, can alter the results of the entire investigation, leading to misinterpretations. This occurs when the investigation is conducted to assess medical malpractice. An unexpected death, with no known apparent cause, is often linked to an underlying disease process of unclear etiological origin whose nature can, unfortunately, be properly investigated only post-mortem. This presentation shows a case study, in which it was possible to reconduct the death of a patient to a natural pathology and not to medical treatment. Here, the authors illustrate a case with a hamartoma developed in chronic inflammatory conditions (bronchiectasis) that was difficult to differentiate from lung cancer due to the inability to perform specific instrumental examinations. The hamartoma, usually benign and identifiable by standard instrumental investigations, in this case, led to the patient’s death precisely during the execution of a bronchoscopy. However, in the absence of a certain cause of death, public opinion unanimously attributes a patient’s disease to medical error. Indeed, a routine practice such as bronchoscopy should not cause death and consequently, the doctor must have made a mistake. Fortunately, the autopsy not only demonstrated the origin of the bleeding but also unveiled the reason for this, as rare congenital lung disease. Fate, one might say. [ABSTRACT FROM AUTHOR]

In recent years, violence against minors has been the subject of in-depth study in all its historical, social and cultural dimensions, being able to be identified and treated according to rigorous scientific methodologies. The A.A. report the case of an 8-year-old girl, who disappeared in a rural area, found dead a few hours later, on the recommendation of a young man who, despite having admitted to having gone away with the child, had not provided further details. The forensic inspection revealed that the discovery area included an area with burnt undergrowth about 4 meters in diameter. Examination of the external genitalia showed that the hymen was hemorrhagic in the right hemicycle, at 11 o'clock, with laceration of the most superficial layers of the anterior face. In the present case, therefore, despite having limited historical and circumstantial data, it was possible to reconstruct the following damaging dynamic: the little girl, after having gone away with her aggressor, was first the victim of an attempt of sexual violence by the latter and later immobilized by placing a foot on the slender abdomen. She had been covered with brushwood which the attacker had set fire to, thus killing her. This reconstruction of the criminal events, proposed to the investigating magistrate, was confirmed in each passage by the confessions made by the murderer, during the various degrees of trial, so much so that the final sentence reported in full the specific steps of the medico-legal relationship. [ABSTRACT FROM AUTHOR]

Background: Italy was declared malaria free by the World Health Organization in 1970. Despite this, nonimport malaria cases are on the increase in Italy and throughout the Mediterranean area. In Italy, in the period between 2011 and 2015, seven cases of locally acquired malaria have been reported, including one introduced case of Plasmodium vivax; moreover, the last certain case of introduced malaria (by P. vivax) has been reported in Tuscany in 1997. No case of introduced malaria from Plasmodium falciparum has been reported in Italy since 1970. Case Presentation: A cluster of four cryptic P. falciparum malaria cases were ascertained in migrant farm workers (three from Morocco and one from Sudan) in Apulia (southern Italy) with clinical onset between September 20 and 27, 2017. None of the patients reported a history of a recent trip to malaria-endemic areas or hospitalization or other risk factors. Typing of malaria was also confirmed using molecular biology methods in two different laboratories. There were no cases of severe malaria in our four patients, and only one in need of transfusion. All patients were discharged cured after being treated with mefloquine due to the unavailability of other antimalarials. Conclusions: In recent years, numerous reports of locally acquired malaria have been made in southern Europe. The cases described in this article represent the first cluster of malaria caused by P. falciparum in Europe. Today, clinical presentation in the diagnosis of malaria is more important than ever, since epidemiological criterion cannot be considered unfailing. The mode of transmission has not been proven and further biological and entomological studies are necessary to define our case as cryptic or confirm the presence of mosquitoes capable of transmitting P. falciparum and/or the capacity of Anopheles labranchiae, An. superpictus, or An. plumbeus to transmit it on Italian territory. [ABSTRACT FROM AUTHOR]

This review summarizes the European rules to control the market when introducing new products. In particular, it shows all the steps to achieve the European Conformity (CE Mark), a certification that all new medical products must achieve before being used in Europe. Extracorporeal membrane oxygenation (ECMO) devices are exposed to the same procedures. Hereby, we present some regulatory issues regarding pumps and oxygenators, providing technical details as released by the manufacturers on their websites and information charts. [ABSTRACT FROM AUTHOR]

Introduction: Neonatal and pediatric ECMO is a high-risk procedure that should be performed only in expert centers. Children who are eligible for ECMO and are managed in hospitals without ECMO capabilities should be referred to the closest ECMO center before the severity of illness precludes safe conventional transport. When the clinical situation precludes safe conventional transport, ECMO should be provided on site with the patient transported on ECMO. Methods: We retrospectively reviewed our institutional database of all ECMO transports for neonatal and pediatric respiratory failure from February 2013 to February 2018. Results: Over the last 5 years, we provided 24 transports covering all requests from the center and south of Italy except for the islands. Of these transports, 20 were performed on ECMO and 4 without ECMO. No patient died during transportation. Five complications were reported only during the ECMO transports, and all of these were managed without compromising the patient’s safety. The preferred modes of transport were by ambulance (70%) and ambulance transported into the fixed wing aircraft (30%) for longer national distances. The survival to hospital discharge of the patients transported with ECMO was 75% among the neonatal transports and 83.3% among the pediatric transports. The survival to hospital discharge of the four patients transported without ECMO was 100% for both neonates and children. Conclusions: Neonatal and pediatric ECMO transports can be safely performed with a dedicated team that maintains stringent adherence to well-designed management protocols. [ABSTRACT FROM AUTHOR]

Background/Aims: Gonadotropin-releasing hormone analogues (GnRHa) represent the gold standard treatment for central precocious puberty (CPP). We aimed to assess the effects of GnRHa treatment on metabolic outcomes, bone status, and polycystic ovary syndrome (PCOS) prevalence in young girls with idiopathic CPP (ICPP). Methods: We enrolled 94 ICPP girls who were at least 2 years after menarche and had already attained adult height at the time of the study: 56 previously treated with depot triptorelin (3.4 ± 0.6 years) and 38 untreated. Auxological parameters, lipid profile, homeostatic model assessment of insulin resistance (HOMA-IR), bone state, and prevalence of PCOS were assessed. Results: The 2 groups were similar for body mass index (BMI) and waist circumference. HOMA-IR, dehydroepiandrosterone sulfate, and ▵ 4-androstenedione were higher in the treated than in the untreated subjects (p < 0.001). Significant differences were found for amplitude-dependent speed of sound (p < 0.03) and bone transmission time zscores (p < 0.01). The prevalence of PCOS was higher in the treated than in the untreated subjects (p < 0.04). Conclusion: GnRHa therapy is associated with hyperandrogenism and an increase in insulin resistance and PCOS prevalence, but not with increased BMI or lipid profile alterations. Long-term evaluations at the time of expected peak bone mass achievement are needed to understand the persistent or transient nature of subtle bone abnormalities. [ABSTRACT FROM AUTHOR]

Glucocorticoid induced osteoporosis (GIO) is the most frequent form of drug induced osteoporosis. Glucocorticoids affect osteoblastogenesis, osteoclastogenesis and promote the apoptosis of osteoblasts and osteocytes. A decrease of bone mineral density has been described in several pediatric diseases that require glucocorticoids, both as long-term replacement therapy, such as Congenital Adrenal Hyperplasia, and as treatment of acute phase or relapses, such as asthma, juvenile rheumatoid arthritis, inflammatory bowel diseases, systemic lupus erythematosus, organ transplantation and Steroid Sensitive Nephrotic Syndrome. The increasing number of children with GIO and at risk of fractures reflects the complex nature of this condition, and the need of development of anti-osteoporotic drugs. In this review, we focus on the mechanisms of GIO in some pediatric diseases and on treatment of osteoporosis. We also report data on new signaling pathways as potential targets for future anti-osteoporotic drugs. [ABSTRACT FROM AUTHOR]

Background/Aims: Prolactin (PRL) is produced by the anterior pituitary gland. It exerts its role on the breast gland but also plays a modulatory role in autoimmune mechanisms. Celiac disease (CD) is a gluten-sensitive autoimmune enteropathy sometimes associated with autoimmune endocrinopathies. No data on PRL levels in CD patients are available at diagnosis, and no conclusive data are reported. Methods: We aimed to evaluate PRL secretion in newly diagnosed CD pediatric patients and, in the case of hyperprolactinemia, any changes in its levels while the patients were on a gluten-free diet (GFD). We recruited 67 patients and 39 healthy controls. Results: PRL was statistically higher in the CD patients (13.5 ± 9.2 ng/ml) than in the controls (8.5 ± 5.0 ng/ml). In the CD group, PRL was inversely correlated with the age at diagnosis (r = -0.326; p = 0.007). In patients with hyperprolactinemia at diagnosis, PRL decreased after 6 months of GFD. Conclusion: This paper confirms that PRL may be increased at diagnosis of CD and shows, for the first time, that it decreases after a short course of GFD. Changes in the levels of inflammatory cytokines in CD may account for changes in PRL levels. Younger patients seem more prone to develop hyperprolactinemia than older ones. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

OTX2 mutations are reported in patients with eye maldevelopment and in some cases with brain or pituitary abnormalities. We describe a child carrying a novel OTX2 heterozygous mutation. She presented microphthalmia, absence of retinal vascularization, vitreal spots and optic nerve hypoplasia in the right eye and mild macular dystrophy in the left eye. Midline brain structures and cerebral parenchyma were normal, except for the ectopic posterior pituitary gland. OTX2 sequencing showed a heterozygous c.402del mutation. Most of OTX2 mutations are nonsense or frameshift introducing a premature termination codon and resulting in a truncated protein. More rarely missense mutations occur. Our novel OTX2 mutation (c.402del) is a frameshift mutation (p.S135Lfs*43), never reported before, causing a premature codon stop 43 amino-acids downstream, which is predicted to generate a premature truncation. The mutation was associated with microphthalmia and ectopic posterior pituitary. [ABSTRACT FROM AUTHOR]

A mass disaster is a situation that involves criticality between the number of victims and resources, in terms of both men and means, present on the site of an event that is mostly unexpected and sudden. In the multidisciplinary teams that intervene, the role of forensic pathologists, who are responsible for the direction and coordination of post-mortem operations, is central, and must remain so. The authors report the case of an explosion of a pyrotechnic artifice factory, as a result of which numerous victims and injuries are recorded. So, the team completed the autopsies and created a protocol to obtain biological samples (bones, blood, teeth, muscles), while the forensic pathologists contacted the families of the alleged victims and each provided a blood sample that was collected for the DNA. The geneticist, using the method of gene extraction and amplification, obtained the DNA from each bone, tooth, and muscle of blood taken from the victims and then compared it with that extracted from the blood samples of the relatives; the electropherograms showed at least one allele for each genetic marker of the "Combined DNA Index System" in common between the victims and the families, thus allowing to establish the identity of all the subjects involved in the event. Having established the identity of all workers, it was possible to determine their whereabouts in the environment at the time of the location of fires and explosions. The results of the various forensic analyzes (autopsies, genetic investigations and even traumatological investigations) have allowed us to validate a scientific method useful in all mass disasters even when any type of anthropological or forensic dental research is difficult. [ABSTRACT FROM AUTHOR]