Medico legal procedures related to sexual assault: a 10-year retrospective experience of a Daphne protocol application

Background: Sexual assault is a worldwide problem that has not yet been sufficiently acknowledged as confirmed by the literature. Italian law n.96, 1996, foreseeing norms regarding rape and sexual abuse, finally gave significant relevance to sex crimes. In 2004, the European Commission for Justice Internal Affairs and Social Politics promoted the Daphne II program to support victims of rape and abuse, and the Violence and Operative Healthcare Networks (Ve.R.S.O.) project started at the Policlinico \ue2\u80\u9cP. Giaccone\ue2\u80\u9d University Hospital of Palermo in 2006. Aim: data analysis emerging from 10 years experience of Daphne protocol utilization for the management of sexual assault victims. Methods: From October 2006 since December 2016 a total of 90 victims of sexual assault were retrospectively investigated. Patients are divided into groups in relation to: gender, age, place of SA, number and type of assailant, nature of sexual assault, presence/absence of physical or genital injuries. Results: Among victims 88 were females (97%) and 2 males (3%); 68 Italians (75.5%) and 22 foreigners (24.5%). At the time the events occurred, 42% (n = 38) of the victims were minors aged less than 16\uc2 years. In 11 cases, the age of the victim is not indicated. The assailant was an acquaintance of the victim in 65% of the cases (in 73% of these cases, the assailant was a family member). In 26 cases (28%) happened indoor, 44 cases happened outdoor and in 20 cases there were no data. Evidence of recent acute general body trauma (abrasions, bruises, lacerations) was found in 38 cases (42%); other types of injuries include: genital trauma (14 cases, 15%), genital and body traumas (49 cases, 54%) (tab. 1\ue2\u80\u932-). In 24 cases (26%) there were no injuries. Among genital trauma, we distinguished vulvo-vaginal lesions (68.5%) and anal lesions (31.5%). We have classified the minor victims using first Adam\ue2\u80\u99s classification and based on Adam\ue2\u80\u99s classification revised in 2015. Conclusion: Application of the Ve.R.S.O project protocol changed and greatly improved health management of victims of violence. By following these procedures, violence and abuse are analyzed from every point of view, also for an appropriate assessment of the medium and long term health consequences of sexual assault. Only in this way are citizens provided with a high level of protection against gender violence, psychological support and prevention from any form of violence which takes place in respect of such vulnerable people

Devices for less invasive surfactant therapy: a manikin study

peer reviewedBackground: “Less invasive surfactant therapy” (LIST), or tracheal instillation of surfactant through a small catheter in spontaneously breathing infants, is gaining popularity. Different catheters are currently used for this purpose: a nasogastric tube inserted with (LISA) or without (Take Care) Magill’s forceps, a 13 cm 16G adult angiocath (MIST), a 30 cm F4 angiography catheter (Stockholm). We developed a specific device by combining a F5 umbilical catheter and an intubation stylet (Liege). We aimed to compare those 5 devices using INSURE as a reference. Methods: 20 neonatologists from 4 institutions supporting different surfactant instillation policies intubated 2 manikin heads with the 5 catheters and an endotracheal tube in a predetermined random sequence. Water was flushed trough the catheter. Video review provided times between laryngoscope (T1) or catheter insertion (T2) in the mouth and water flowing from the trachea. Participants gave an ease of use score (range: 1-9) for each catheter. Results: Procedural times were longer with the Take Care method and shorter with the Liège device (Table). Failure rates were higher for LIST procedures than for INSURE. Take Care and LISA were rated as more difficult, while Liège, Stockholm and INSURE were considered easier. Conclusions: LIST procedures remain difficult, even on a manikin. The choice of catheter is important. A device combining the rigidity of a stylet with the soft distal end of an umbilical catheter is associated with procedures of shorter duration and is considered easier by neonatologists

The effect of a secondary task on kinematics during turning in Parkinson's disease with mild to moderate impairment

Patients with Parkinson's disease (PD) show typical gait asymmetries. These peculiar motor impairments are exacerbated by added cognitive and/or mechanical loading. However, there is scarce literature that chains these two stimuli. The aim of this study was to investigate the combined effects of a dual task (cognitive task) and turning (mechanical task) on the spatiotemporal parameters in mild to moderate PD. Participants (nine patients with PD and nine controls (CRs)) were evaluated while walking at their self-selected pace without a secondary task (single task), and while repeating the days of the week backwards (dual task) along a straight direction and a 60 degrees and 120 degrees turn. As speculated, in single tasking, PD patients preferred to walk with a shorter stride length (p< 0.05) but similar timing parameters, compared to the CR group; in dual tasking, both groups walked slower with shorter strides. As the turn angle increased, the speed will be reduced (p< 0.001), whereas the ground-foot contact will become greater (p< 0.001) in all the participants. We showed that the combination of a simple cognitive task and a mechanical task (especially at larger angles) could represent an important training stimulus in PD at the early stages of the pathology

Anatomically asymmetrical runners move more asymmetrically at the same metabolic cost.

We hypothesized that, as occurring in cars, body structural asymmetries could generate asymmetry in the kinematics/dynamics of locomotion, ending up in a higher metabolic cost of transport, i.e. more 'fuel' needed to travel a given distance. Previous studies found the asymmetries in horses' body negatively correlated with galloping performance. In this investigation, we analyzed anatomical differences between the left and right lower limbs as a whole by performing 3D cross-correlation of Magnetic Resonance Images of 19 male runners, clustered as Untrained Runners, Occasional Runners and Skilled Runners. Running kinematics of their body centre of mass were obtained from the body segments coordinates measured by a 3D motion capture system at incremental running velocities on a treadmill. A recent mathematical procedure quantified the asymmetry of the body centre of mass trajectory between the left and right steps. During the same sessions, runners' metabolic consumption was measured and the cost of transport was calculated. No correlations were found between anatomical/kinematic variables and the metabolic cost of transport, regardless of the training experience. However, anatomical symmetry significant correlated to the kinematic symmetry, and the most trained subjects showed the highest level of kinematic symmetry during running. Results suggest that despite the significant effects of anatomical asymmetry on kinematics, either those changes are too small to affect economy or some plastic compensation in the locomotor system mitigates the hypothesized change in energy expenditure of running

Prenatal Nutritional Factors and Neurodevelopmental Disorders: A Narrative Review

According to the DSM-5, neurodevelopmental disorders represent a group of heterogeneous conditions, with onset during the developmental period, characterized by an alteration of communication and social skills, learning, adaptive behavior, executive functions, and psychomotor skills. These deficits determine an impairment of personal, social, scholastic, or occupational functioning. Neurodevelopmental disorders are characterized by an increased incidence and a multifactorial etiology, including genetic and environmental components. Data largely explain the role of genetic and environmental factors, also through epigenetic modifications such as DNA methylation and miRNA. Despite genetic factors, nutritional factors also play a significant role in the pathophysiology of these disorders, both in the prenatal and postnatal period, underscoring that the control of modifiable factors could decrease the incidence of neurodevelopmental disorders. The preventive role of nutrition is widely studied as regards many chronic diseases, such as diabetes, hypertension, and cancer, but actually we also know the effects of nutrition on embryonic brain development and the influence of prenatal and preconceptional nutrition in predisposition to various pathologies. These factors are not limited only to a correct caloric intake and a good BMI, but rather to an adequate and balanced intake of macro and micronutrients, the type of diet, and other elements such as exposure to heavy metals. This review represents an analysis of the literature as regards the physiopathological mechanisms by which food influences our state of health, especially in the age of development (from birth to adolescence), through prenatal and preconceptional changes, underlying how controlling these nutritional factors should improve mothers’ nutritional state to significantly reduce the risk of neurodevelopmental disorders in offspring. We searched key words such as “maternal nutrition and neurodevelopmental disorders” on Pubmed and Google Scholar, selecting the main reviews and excluding individual cases. Therefore, nutrigenetics and nutrigenomics teach us the importance of personalized nutrition for good health. So future perspectives may include well-established reference values in order to determine the correct nutritional intake of mothers through food and integration

Anatomically asymmetrical runners move more asymmetrically at the same metabolic cost

We hypothesized that, as occurring in cars, body structural asymmetries could generate asymmetry in the kinematics/dynamics of locomotion, ending up in a higher metabolic cost of transport, i.e. more 'fuel' needed to travel a given distance. Previous studies found the asymmetries in horses' body negatively correlated with galloping performance. In this investigation, we analyzed anatomical differences between the left and right lower limbs as a whole by performing 3D cross-correlation of Magnetic Resonance Images of 19 male runners, clustered as Untrained Runners, Occasional Runners and Skilled Runners. Running kinematics of their body centre of mass were obtained from the body segments coordinates measured by a 3D motion capture system at incremental running velocities on a treadmill. A recent mathematical procedure quantified the asymmetry of the body centre of mass trajectory between the left and right steps. During the same sessions, runners' metabolic consumption was measured and the cost of transport was calculated. No correlations were found between anatomical/kinematic variables and the metabolic cost of transport, regardless of the training experience. However, anatomical symmetry significant correlated to the kinematic symmetry, and the most trained subjects showed the highest level of kinematic symmetry during running. Results suggest that despite the significant effects of anatomical asymmetry on kinematics, either those changes are too small to affect economy or some plastic compensation in the locomotor system mitigates the hypothesized change in energy expenditure of running

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phenotype with GTPBP2 and characterize the overall spectrum of GTP-binding protein (1/2)-related disorders. In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES) or whole-genome (WGS) sequencing. To assess the functional impact of the identified genetic variants, semi-quantitative PCR, western blot, and ribosome profiling assays were performed in fibroblasts from affected individuals. We also investigated the effect of reducing expression of CG2017, an ortholog of human GTPBP1/2, in the fruit fly Drosophila melanogaster. Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome. Cell line studies identified a loss-of-function (LoF) impact of the disease-associated variants but no significant abnormalities on ribosome profiling. Reduced expression of CG2017 isoforms was associated with locomotor impairment in Drosophila. In conclusion, bi-allelic GTPBP1 and GTPBP2 LoF variants cause an identical, distinct neurodevelopmental syndrome. Mutant CG2017 knockout flies display motor impairment, highlighting the conserved role for GTP-binding proteins in CNS development across species

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

: The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phenotype with GTPBP2 and characterize the overall spectrum of GTP-binding protein (1/2)-related disorders. In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES) or whole-genome (WGS) sequencing. To assess the functional impact of the identified genetic variants, semi-quantitative PCR, western blot, and ribosome profiling assays were performed in fibroblasts from affected individuals. We also investigated the effect of reducing expression of CG2017, an ortholog of human GTPBP1/2, in the fruit fly Drosophila melanogaster. Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome. Cell line studies identified a loss-of-function (LoF) impact of the disease-associated variants but no significant abnormalities on ribosome profiling. Reduced expression of CG2017 isoforms was associated with locomotor impairment in Drosophila. In conclusion, bi-allelic GTPBP1 and GTPBP2 LoF variants cause an identical, distinct neurodevelopmental syndrome. Mutant CG2017 knockout flies display motor impairment, highlighting the conserved role for GTP-binding proteins in CNS development across species