Search Results (57)

Anderson Fabry disease (AFD) is an X-linked hereditary lysosomal abnormality that causes the accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and a shortened life span. More than 1000 mutations in the GLA gene have been identified, promoting many different clinical pictures. For this reason, diagnosing AFD can be difficult, especially because of the great diversity of atypical clinical presentations that can simulate the disease. Some of these variants of the GLA gene have been described as non-pathogenic. For example, the D313Y variant is one of the most controversial, even if there are several case reports of D313Y patients presenting with signs and symptoms consistent with AFD without any other etiological explanation. This work aimed to clarify whether the presence of the D313Y variant affects α-Gal A activity and causes AFD symptoms and organ involvement in two patients from different families. The presence of the D313Y variant resulted in clinical manifestations of AFD in both patients and a decrease in alpha-galactosidase activity in the male patient. Two patients (one female and one male) from two unrelated families were examined. Sequencing of all seven GLA exons and the adjacent 5′ and 3′ exon–intron boundaries identified the D313Y variant in exon 6, as well as the genetic variation g.1170C>T in the flanking 5′ UTR in patient 1 only. Our results suggest that the D313Y variant is causative for the disease and that the clinical phenotype can be enhanced by the presence of other variants modulating protein expression. Full article

Background: Accidents and injuries are major causes of chronic disability, leading to a loss of healthy years. Accurate assessment is essential for planning personalized rehabilitation programs. In recent years, wearable sensors have been introduced into research for motion analysis. This study aimed to validate the Xclinic wearable sensors for ROM assessment in patients with trauma. Methods: Participants were recruited from the Sapienza University of Rome (September 2023–November 2024) after road accident trauma. The active ROM of the hip, knee, and ankle was assessed bilaterally based on the injury. The SF-36 and other specific tools were also administered. Construct validity was tested using Pearson’s correlation coefficient. Results: A total of 44 participants (mean age 42.7 ± 17.3 years, 69% male) were included. Item-by-item analysis revealed significant correlations, with notable findings related to other outcome measures. Conclusions: The correlation between joint restrictions, functional impairment, and psychosocial factors highlights the need to integrate physical and psychological care into rehabilitation. Further research is needed to refine assessment tools to improve patients’ quality of life. Full article

The pathological mechanisms underlying the ligature mark in hanging involve the skin layers and an ischemic mechanism. The apoptotic process develops whenever ischemic mechanisms affect the dermal and epidermal layers. Effector caspase-3 appears to play a crucial role in both acute and chronic pressure-induced skin ischemia. The aim of this study is to identify the role of caspase-3 as a marker of supravitality in the diagnosis of premortem hanging. Skin samples from ligature marks in hanging cases were collected to investigate this apoptotic process. The caspase-3 levels in compressed skin were significantly higher compared to those found in healthy skin (p < 0.005). The apoptotic process in ischemic epidermal cells begins with stable mechanical stress, as seen in the hanging model. Caspase-3 expression seems to vary from minutes after the initial stress input. Caspase-3 activation is an ATP-dependent process and can only occur if the victim was alive before the pressure was applied. Caspase-3 is a reliable marker of supravitality in ligature marks in premortem hanging cases. Full article

Background: Traumatic brain injury (TBI) is one of the main causes of death in trauma pathology, especially among the youngest victims. After having evaluated the causality relationship between damage to the brain tissue and death, pathologists should try to estimate the duration between the TBI and death. Immunohistochemistry could be used in this field as a personalized medico-legal approach. This study aims to evaluate the possible role of vimentin and p53 as TBI markers to assess vitality and date the TBI. Methods: Twelve cases of TBI deaths were selected (two women and ten men, with a mean age of 46.83 years). In seven cases, death occurred immediately after the trauma, while in the others, death occurred after some days. An immunohistological study of brain samples using anti-p53 and anti-vimentin antibodies was performed. A semi-quantitative scale was adopted to grade the immunohistochemical reaction. Results: Our results showed a strong relationship between the p53 immunoreaction grade and TBI (X-squared value 10.971, p-value < 0.01), suggesting that p53 expression is enhanced in TBI cases. Vimentin is more expressed when the PTI is longer. Vimentin-immunoreaction was weaker than p53-immunoreaction (+0.75 vs. +1.83 mean values, respectively) in a group predominantly including short post-traumatic interval cases. Conclusions: The present research is limited by the small sample size; however, the molecules tested, vimentin and p53, have shown great potential to be used, in addition to others, as biological markers for the diagnosis and timing of TBI. Full article

Background: Kinematics experts and physical therapists have implemented the use of sensors for 3D motion analysis, both for static and dynamic movements. XClinic movement sensors are advanced devices designed to analyze movement patterns with high precision. The aim of this study was to validate wearable XClinic sensors for range of motion (ROM) in healthy subjects and obtain normative data. Participants were enrolled at the Sapienza University of Rome in 2024. All participants had to be healthy subjects aged between 18 and 65 years. Data on their demographics, employment and physical activity were collected. All the subjects were tested to assess the active ROM of their shoulder, hip, knee and ankle bilaterally. The same movements were tested using a goniometer to investigate validity, and SF-36 was administered. Fifty subjects were enrolled. The mean age was 28.2 (SD 10.8) years. For the left shoulder, construct validity showed statistically significant values for flexion, extension and extra-rotation, while for the right shoulder, construct validity showed statistically significant values for all movements except intra-rotation. The results concerning the right hip showed statistically significant values for flexion, extra-rotation, intra-rotation and adduction. The left hip showed statistically significant values for all movements except extension. Both the right and left knees showed statistically significant values for flexion. Both the right and left ankles showed statistically significant values for all movements. XClinic sensors offer a reliable and valid solution for the precise monitoring of the ROM of the shoulder and lower limb joints, making them an invaluable asset for clinicians and researchers. Full article

Gender incongruence is a current issue with implications in the legislative, social, and healthcare fields. In this context, misinformation is, at present, the main enemy of transgender rights equity. Over time, the scientific community has worked to reclassify this condition, removing it from psychiatric diagnoses. The method of our work involved investigating and comparing the different social and legislative measures adopted by various countries to ensure the rights and equality of individuals with gender incongruence. The result showed that there are various international approaches allowing adult and minor patients to access medical and administrative procedures for gender transition. In conclusion, there appears to be a need for international bioethical and legislative guidance in order to reduce and eventually eliminate the social inequalities faced by individuals with gender incongruence. Full article

Chest trauma is the leading cause of death in people under 40. It is estimated to cause around 140,000 deaths each year. The key aims are to reduce mortality and the impact of associated complications to expedite recovery and to restore patient’s conditions. The recognition of lesions through appropriate imaging and early treatment already in the emergency department are fundamental. The majority can be managed in a non-surgical way, but especially after traumatic cardiac arrest, a surgical approach is required. One of the most important surgical procedures is the Emergency Department Thoracotomy (EDT). The aim of this review is to provide a comprehensive synthesis about the management of thoracic trauma, the surgical procedures, accepted indications, and technical details adopted during the most important surgical procedures for different thoracic trauma injuries. Literature from 1990 to 2023 was retrieved from multiple databases and reviewed. It is also important to emphasize the medico-legal implications of this type of trauma, both from the point of view of collaboration with the judicial authority and in the prevention of any litigation. Full article

At many crime scenes, investigators are able to trace and find traces of blood. For many years, it was believed that such traces could only be subjected to genetic investigations, such as those aimed at comparing DNA profiling with a suspect to verify his identity, and that it was therefore not possible to backdate the traces. In recent years, various works have used experimental models to investigate the possibility of identifying markers and methodologies for estimating the time since deposition (TSD) of bloodstains. Despite the results, these methods are still not part of standard procedures, and there is no univocal analysis methodology. In this work we carried out a systematic literature review of all the papers published in the last ten years on this topic, comparing the experimental models created. This review demonstrates the potential that different molecular approaches, such as transcriptomics, metabolomics, proteomics, and spectrometry, can have in the analysis of TSD, with notable sensitivity and specificity. This paper also analyzes the intrinsic and extrinsic limits of these models and emphasizes the need to continue research work on this topic, considering the importance that this parameter can assume in forensic investigations against a suspect. Full article

Neck infections are often prone to being underestimated and can manifest insidiously. The spread of infection can lead to translocation into thoracic areas, causing descending necrotizing mediastinitis (DNM). However, the application of the post-mortem approach in such cases is not well-described in the literature. A literature review was carried out according to the PRISMA methods. Nine papers were included in the final review, revealing different levels of involvement of neck layers that can be linked to different causes. Expertise with respect to the anatomy of the fasciae and spaces of the neck enables an understanding of the pathogenesis of DNM. However, a clear autoptic description was not provided in any of the articles. Therefore, we also employed a practical post-mortem approach to cases of death due to DNM. It is fundamental for pathologists to identify the exact head and neck structures involved. Providing dissectors with support from an otolaryngologist could be useful. This paper could help address such difficult cases. Full article

Investigating the causes of Sudden cardiac death (SCD) is always difficult; in fact, genetic cardiac conditions associated with SCD could be “silent” even during autopsy investigation. In these cases, it is important to exclude other aetiology and assist to ask for genetic investigations. Herein, the purpose of this review is to collect the most-implicated genes in SCD and generate a panel with indications for first line and second line investigations. A systematic review of genetic disorders that may cause SCD in the general population was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We subsequently listed the genes that may be tested in the case of sudden cardiac death when the autopsy results are negative or with no evidence of acquired cardiac conditions. To make genetic tests more specific and efficient, it is useful and demanded to corroborate autopsy findings with the molecular investigation as evident in the panel proposed. The genes for first line investigations are HCM, MYBPC3, MYH7, TNNT2, TNNI3, while in case of DCM, the most implicated genes are LMNA and TTN, and in second line for these CDM, ACTN2, TPM1, C1QPB could be investigated. In cases of ACM/ARVC, the molecular investigation includes DSP, DSG2, DSC2, RYR2, PKP2. The channelopathies are associated with the following genes: SCN5A, KCNQ1, KCNH2, KCNE1, RYR2. Our work underlines the importance of genetic tests in forensic medicine and clinical pathology; moreover, it could be helpful not only to assist the pathologists to reach a diagnosis, but also to prevent other cases of SCD in the family of the descendant and to standardise the type of analysis performed in similar cases worldwide. Full article

When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is fundamental, including a thorough personal and familial history, along with accurate physical examination and additional investigations. Especially when the clinical picture is uncertain, it is important to remember that certain genetic conditions can cause bleeding inside the brain, which may resemble NAHI. Pediatric strokes occurring around the time of birth can also be an initial sign of undiagnosed genetic disorders. Hence, it is crucial to conduct a thorough evaluation, including genetic testing, when there is a suspicion of NAHI but the symptoms are unclear. In these cases, a characteristic set of symptoms is often observed. This study aims to summarize some of the genetic causes of hemorrhagic stroke in the pediatric population, thus mimicking non-accidental head injury, considering elements that can be useful in characterizing pathologies. A systematic review of genetic disorders that may cause ICH in children was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We selected 10 articles regarding the main genetic diseases in stroke; we additionally selected 11 papers concerning patients with pediatric stroke and genetic diseases, or studies outlining the characteristics of stroke in these patients. The disorders we identified were Moyamoya disease (MMD), COL4A1, COL4A2 pathogenic variant, Ehlers–Danlos syndrome (E-D), neurofibromatosis type 1 (Nf1), sickle cell disease (SCD), cerebral cavernous malformations (CCM), hereditary hemorrhagic telangiectasia (HHT) and Marfan syndrome. In conclusion, this paper provides a comprehensive overview of the genetic disorders that could be tested in children when there is a suspicion of NAHI but an unclear picture. Full article

Episodes of direct violence against healthcare workers and social workers represent a worrying and widespread phenomenon in Western countries. These violent attacks, whether verbal or physical, occur in various work environments, targeting professionals working in private facilities, medical practices, or those employed within the National Health System facilities. We conducted a search using a single search engine (PubMed) using the terms “violence against healthcare workers AND Western” for the period 2003–2023, identifying 45 results to which we added to the literature through hand searching. Our review thus analyzed the sector literature to highlight the phenomenon of violence against healthcare workers, particularly in Western countries. We began with an analysis of the problem and then focused on the true purpose of the study, which is to propose new solutions to protect healthcare workers in all work settings. Consequently, we aim to improve both the working environment for healthcare professionals and to enhance the overall healthcare and public health outcomes. Full article

This study aims to analyze post-mortem human cardiac specimens, to verify and evaluate the existence or extent of oxidative stress in subjects whose cause of death has been traced to sepsis, through immunohistological oxidative/nitrosative stress markers. Indeed, in the present study, i-NOS, NOX2, and nitrotyrosine markers were higher expressed in the septic death group when compared to the control group, associated with also a significant increase in 8-OHdG, highlighting the pivotal role of oxidative stress in septic etiopathogenesis. In particular, 70% of cardiomyocyte nuclei from septic death specimens showed positivity for 8-OHdG. Furthermore, intense and massive NOX2-positive myocyte immunoreaction was noticed in the septic group, as nitrotyrosine immunostaining intense reaction was found in the cardiac cells. These results demonstrated a correlation between oxidative and nitrosative stress imbalance and the pathophysiology of cardiac dysfunction documented in cases of sepsis. Therefore, subsequent studies will focus on the expression of oxidative stress markers in other organs and tissues, as well as on the involvement of the intracellular pattern of apoptosis, to better clarify the complex pathogenesis of multi-organ failure, leading to support the rationale for including therapies targeting redox abnormalities in the management of septic patients. Full article

Background: Healthcare systems represent complex organizations within which multiple factors (physical environment, human factor, technological devices, quality of care) interconnect to form a dense network whose imbalance is potentially able to compromise patient safety. In this scenario, the need for hospitals to expand reactive and proactive clinical risk management programs is easily understood, and artificial intelligence fits well in this context. This systematic review aims to investigate the state of the art regarding the impact of AI on clinical risk management processes. To simplify the analysis of the review outcomes and to motivate future standardized comparisons with any subsequent studies, the findings of the present review will be grouped according to the possibility of applying AI in the prevention of the different incident type groups as defined by the ICPS. Materials and Methods: On 3 November 2023, a systematic review of the literature according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines was carried out using the SCOPUS and Medline (via PubMed) databases. A total of 297 articles were identified. After the selection process, 36 articles were included in the present systematic review. Results and Discussion: The studies included in this review allowed for the identification of three main “incident type” domains: clinical process, healthcare-associated infection, and medication. Another relevant application of AI in clinical risk management concerns the topic of incident reporting. Conclusions: This review highlighted that AI can be applied transversely in various clinical contexts to enhance patient safety and facilitate the identification of errors. It appears to be a promising tool to improve clinical risk management, although its use requires human supervision and cannot completely replace human skills. To facilitate the analysis of the present review outcome and to enable comparison with future systematic reviews, it was deemed useful to refer to a pre-existing taxonomy for the identification of adverse events. However, the results of the present study highlighted the usefulness of AI not only for risk prevention in clinical practice, but also in improving the use of an essential risk identification tool, which is incident reporting. For this reason, the taxonomy of the areas of application of AI to clinical risk processes should include an additional class relating to risk identification and analysis tools. For this purpose, it was considered convenient to use ICPS classification. Full article

Point-of-Care Ultrasound (POCUS) is a rapid and valuable diagnostic tool available in emergency and intensive care units. In the context of cardiac arrest, POCUS application can help assess cardiac activity, identify causes of arrest that could be reversible (such as pericardial effusion or pneumothorax), guide interventions like central line placement or pericardiocentesis, and provide real-time feedback on the effectiveness of resuscitation efforts, among other critical applications. Its use, in addition to cardiovascular life support maneuvers, is advocated by all resuscitation guidelines. The purpose of this narrative review is to summarize the key applications of POCUS in cardiac arrest, highlighting, among others, its prognostic, diagnostic, and forensic potential. We conducted an extensive literature review utilizing PubMed by employing key search terms regarding ultrasound and its use in cardiac arrest. Apart from its numerous advantages, its limitations and challenges such as the potential for interruption of chest compressions during image acquisition and operator proficiency should be considered as well and are discussed herein. Full article