Multicentric Italian case-control study on 25OH vitamin D levels in children and adolescents with Prader-Willi syndrome.

PURPOSE: 25OHD levels in patients with Prader-Willi Syndrome (PWS), the most frequent cause of genetic obesity with a peculiar fat mass distribution, are still debated. Insulin resistance (IR), Body Mass Index-SDS (BMI-SDS), Growth Hormone Therapy (GHT), and puberty onset seem to interact with 25OHD levels. The objectives of the study are: (1) To analyze 25OHD levels in pediatric PWS patients in comparison with a control group (CNT) (2) To evaluate a possible correlation between BMI-SDS, HOMA-IR, puberty, GHT, and 25OHD levels. METHODS: This is a retrospective case-control, multicenter study. Data were collected among 8 different Italian Hospitals (outpatient clinics), over a period of four years (2016-2020). We included 192 genetically confirmed PWS and 192 CNT patients, aged 3-18 years, matched 1:1 for age, gender, BMI-SDS, Tanner stage, sun exposure, and month of recruitment. RESULTS: No statistically significant differences in 25OHD levels were observed between the PWS population and the CNT (PWS 24.0 ng/mL vs CNT 22.5 ng/mL, p > 0.05), OR = 0.89 (95% CI 0.58-1.35). We observed a slight, although non-significant, reduction in 25OHD levels comparing NW and OB populations. HOMA-IR, puberty onset, genotype and GHT (previous or ongoing) did not show statistically significant correlation with 25OHD levels. CONCLUSIONS: Our findings could be useful for clinicians to optimize the therapeutic management as well as to increase awareness of PWS.

Development and machine learning-based calibration of low-cost multiparametric stations for the measurement of CO2 and CH4 in air.

The pressing issue of atmospheric pollution has prompted the exploration of affordable methods for measuring and monitoring air contaminants as complementary techniques to standard methods, able to produce high-density data in time and space. The main challenge of this low-cost approach regards the in-field accuracy and reliability of the sensors. This study presents the development of low-cost stations for high-time resolution measurements of CO2 and CH4 concentrations calibrated via an in-field machine learning-based method. The calibration models were built based on measurements parallelly performed with the low-cost sensors and a CRDS analyzer for CO2 and CH4 as reference instrument, accounting for air temperature and relative humidity as external variables. To ensure versatility across locations, diversified datasets were collected, consisting of measurements performed in various environments and seasons. The calibration models, trained with 70 % for modeling, 15 % for validation, and 15 % for testing, demonstrated robustness with CO2 and CH4 predictions achieving R2 values from 0.8781 to 0.9827 and 0.7312 to 0.9410, and mean absolute errors ranging from 3.76 to 1.95 ppm and 0.03 to 0.01 ppm, for CO2 and CH4, respectively. These promising results pave the way for extending these stations to monitor additional air contaminants, like PM, NOx, and CO through the same calibration process, integrating them with remote data transmission modules to facilitate real-time access, control, and processing for end-users.

New perspectives of forensic pathology through machine learning approach on autopsy data: a pilot study.

Background: The analysis, interpretation and storage of information is entrusted to the individual expert, who bases his judgments on the knowledge resulting from the experience. The aim of this experimental study is to analyse and introduce a new line of research applicable to forensic pathology, based on the use of artificial intelligence techniques as a possible tool for data collection and analysis. Methods: The sample analysed is represented by judicial autop-sies performed at the University of Catanzaro from 01/01/2020 to 31/12/2021. For each case were performed: study of medical records; autopsy; histological examinations; toxicological analysis of blood samples. Continuous variables were presented as means ± standard deviations, and categorical variables were expressed as percentages. A random forest regression model was conducted, as a machine learning approach, to estimate the importance of individual solid organ weight variables in predicting cause of death. Conclusions: This study aimed to evaluate autopsy data to aid in the description and study of forensic cases, using a machine learning approach. To date, this study appears to be the first to evaluate the weight of organs in predicting a cause of death. Artificial intelligence techniques are an optimal solution in solving forensic dilemmas. The results of this study demonstrate that routine data can be submitted using machine learning techniques in order to identify key elements of procedures that provide more information in relation to the predic-tion of cause of death.

New methods in psychological autopsy in cases of doubtful suicides.

Background: Suicide is considered a global health emergency by the WHO. In suicide, the collection of testimonial data often encounters the refusal of family members to accept the hypothesis of a self-harming event and to provide clear information on the matter. The psychological autopsy is an investigative tool historically known for collecting information on the deceased, although to date there is no standard methodological protocol for conducting interviews with family members/next of kin. Materials and Methods: We present three dubious suicide cases: fuel-related death; hanging during a party; throat cutting with multiple stab wounds. During the interview the operators avoided pressing or direct questions about the event, preferring the interview with free discussion about the deceased (stream of consciousness). Conclusion: Initially, the relatives showed an attitude of clear rejection of the suicidal hypothesis with insistent requests for clarity on what had happened. Subsequently, through the use of free-form interviews, it was still possible to intercept, in the stories, predictive signs of suicidal ideation or psychiatric comorbidities previously un-treated and probably not accepted by the relatives, especially through the description of daily acts and household habits and environmental conditions of the deceased. The cases demonstrate the importance of using standardized methods with the use of free interviews with family members in order to indirectly investigate the event.

Supermarket shopping death: the role of forensic investigations in plastic bag suffocation.

Background: Plastic bag suffocation may represent a very complex enigma for the forensic pathologist. The aim of this work is to highlight how the resolution of plastic bag suffocation cases is possible through the use of various forensic investigations, including psychological one (psychological autopsy) and toxicological examinations, in order to be able to define the manner of death. Case report: A 70-year-old man was found by his daughter lying on the bed, with his head inside a plastic bag knotted around his neck. The daughter claimed to have immediately removed the bag, but the father was already dead. An autopsy was performed. The clinical history of the victim was analysed in search of reason that could lead to suicide. The statements of the people on the death scene were examined. Results were compared with the scientific literature: a literature review was performed on the search engine Pubmed, Scopus and Google Scholar using the keywords "plastic bag suffocation" and "death". The autopsy showed no typical signs of asphyxial death. Toxicological examinations revealed benzodiazepines in the urine. Investigations revealed that the victim had been suffering from severe depression. Conclusions: The literature review confirmed that the most used wrapper is the supermarket shopping bag. We emphasize that plastic bag suffocation is a very quick event that does not leave any evident sign: this rapidity does not allow to appreciate the typical elements of asphyxiated death (petechiae, cyanosis). It seems that the fatal mechanism is a cardio-inhibitory, rather than a hypoxic process.

The impact of climate change on the crime scene and forensic sciences.

Background: Climate change causes great impact on ambient temperatures. In forensic pathology, temperature has always been an important variable to determine numerous thanatodiagnostic and thanatochronological parameters, as crucial elements to make scientifically valid forensic conclusions. The aim of this work is to describe the impact that climate change is having on the forensic science and crime scene analysis. Materials and methods: A literature review was carried out on the search engines Pubmed, Scopus and Google Scholar. The keywords "climate change" AND "forensic" were used. Conclusion: Climate change is having a significant impact on forensic science in several areas. Among these it is necessary to consider: 1) global warming and crime scenes: high temperature of the planet causes frequent extreme meteorological events in multiple periods of the year; 2) Relationship between climate and PMI (Post Mortem Interval): Temperature influences the rapidity of putrefaction; 3) Relationship between climate and fauna: global warming is influencing the geographical distribution of animal species, with real migrations of species. Fauna has a decisive impact in the forensic field (as in the case of entomology) creating new models of animal-cadaver interaction; 4) Relationship between climate and forensic botany: Climate change influences the flowering and fruiting times of plants, impacting knowledge on botany used in the forensic field. It is essential to adopt prevention measures to address the emerging challenges.

The study of the microbiome in forensic investigations on pediatric deaths.

Background: Sudden infant death syndrome (SIDS) is a tragic and devastating condition whose causes remain largely unknown. Recent studies have shown that the composition of a child's gut flora can play a significant role in the development of SIDS. Methods: This work aims to research those factors that influence the composition of the intestinal flora, the role they have in the development of SIDS and the new strategies for preventing SIDS showing a new interpretation through a detailed review of the literature. The gut in physiological conditions is mainly composed of Bacteroidetes, Firmicutes, Actinobacteria, and Proteobacteria, but when there is the presence of dysbiotic or different microbial communities, the onset of the disease is more likely as an altered microbial community can lead to an interruption of the gut-brain axis and an increased risk of SIDS. Conclusions: All this implies that the composition of the microbiome can be modified to reduce the risk of sudden death in newborns. The results of the literature provide valuable information on the potential role of the intestinal microbiome in SIDS even if not all mechanisms are yet clear, especially in the mechanisms of death. Therefore, it is necessary in cases of SIDS when carrying out an autopsy to also investigate this area; to this end, we suggest a questionnaire to be administered to family members to understand the eating habits of the newborn and the family and integrate with microbiological investigations to explore every possible hypothesis.

A rare case of maternal foetal death caused by uterine rupture in the placenta accreta.

Background: Fetal death has various causes, among the most common are problems relating to the placenta, such as placental abruption or placental malformations such as placenta accreta. From the literature, it emerges that placental analysis at autopsy can allow for greater resolution of cases compared to clinical history and external examination of the fetus alone. Case Report: We report the case of a woman at the eleventh week of pregnancy who died in hospital. The medical history revealed two further previous pregnancies, both with births by cesarean section. The autopsy identified the cause of maternal death as acute cardiorespiratory arrest secondary to hemorrhagic shock from spontaneous uterine rupture. Hemorrhagic infiltrate was found in the intervillous placental spaces with rupture of the uterus due to placenta previa and accreta. Discussion: Placenta accreta is a condition in which a pathological adherence and/or invasion of the myometrium by the placenta is observed. This condition poses a problem during recovery with potential for severe bleeding. Therefore, we emphasize the macroscopic and histological analysis of the placenta, uterus and the ovaries in all cases of maternal-fetal death, suggesting however that the organs be analyzed both by gross analysis and after permanence in formaldehyde. Furthermore, in these cases, it is important to evaluate the clinical history and data, especially ultrasound scans performed in life, or insertion anomalies during instrumental investigations. For this reason, we recommend to collaborate with a multidisciplinary team in these cases, including the gynecologist and the forensic pathologist.

Asphyxia with a blunt instrument: which forensic evidence to use in complex cases of murder.

Background: The blunt injuries may be heterogeneous. Due to the diversity, it is often difficult to establish the type of weapon used. Particular attention must be paid to the circumstantial data and previous diseases because the injuries often could not correspond to the presumed instruments used. Case Report: A man was found dead in his bedroom wearing pajamas. On the bed there was a blanket with visible traces of blood, which had dried. There were around 10 dogs in the house, poor hygienic and sanitary conditions, widespread excrements and unbreathable air. Testimonies from general practitioner, neighbors and the partner were collected. An autopsy, histological and toxicological examination was performed. On external examination the face showed blood smearing down the nose, subconjunctival hemorrhages, and labial cyanosis. Mo-reover, a hypochromic skin area was present on the right lateral region of the neck. The inguinal region showed large de-epithelized areas with multiple purplish red ecchymoses which were histologically analyzed. These areas showed hemorrhagic infiltration in the superficial and deep dermis up to the adipose tissue due to traumatic action. Conclusion: The reconstruction of the case allowed us to state a strangulation probably attributable to a belt. The discovery of intradermal hemorrhagic infiltrations, supported by histopathological investigations, confirmed the diagnosis of blunt force injuries, excluding other type of non-violent causes of lesions. Therefore, we recommended the use of experimental methods and procedures to evaluate the harmful suitability on biological matrices.

The role of necroscopy and autopsy investigations in the diagno-sis and risk management of infections related to public health care: forensic and medico legal implications.

Background: Healthcare-associated infections (HAIs) represent the most frequent adverse event in healthcare systems around the world. From a forensic point of view, HAIs show various legal implications. Therefore, it is essential in cases of death or injury from a suspected nosocomial infection that the infection itself, the source and the method of contamination are correctly diagnosed in order to evaluate any profiles of professional liability. Methods: This study combined a minireview of the scientific literature using the Pubmed search engine, the website of the Higher Institute of Health and the member states information sessions on infection prevention and control (IPC). Discussion: Despite the significant impact that HAIs have on healthcare systems, their severity is often not fully understood by healthcare professionals, leading to insufficient responses. In the autopsy setting, the diagnosis of these infections is not always simple due to the risk of post-mortem contamination determined by the endogenous bacterial flora. In the forensic field, the medical examiner during the autopsy can use various diagnostic techniques and investigative tools to identify the infection. Some usefulpp approaches include: 1) Macroscopic examination of the organs; 2) Histopathological investiga-tions; 3) Microbiological analyzes with the performance of swabs; 4) Immunofluorescence tests for the detection of antigens or antibodies on biological liquids; 5) Molecular tests. The choice of methods will depend on the nature of the suspected infection and the availability of diagnostic resources.

The experimental reconstruction of a complicated case of work accident due to a scraper.

Background: Workplace safety is a global public health issue. Re-constructing an accident can prove extremely complicated, especially when the event occurs without direct witnesses or when the scene is altered. In these cases, it is essential to adopt proper investigation pro-tocols in order to ensure the correct reconstruction of the dynamics. Case report: A man was found unconscious on the ground, having fallen from a height of approximately 2 meters, where there was a cabin in which a conveyor belt of raw materials for the production of cement ran. At the end of the path of this belt a scraper was found. An autopsy was carried out and the scraper present at the scene was examined and compared with the injuries on the victim. After the autopsy, the investigators returned to the scene and collected the traces found in the cabin. At the end of collecting the traces, the investigators simulated the dynamics of the event by turning on the conveyor belt and placing a scraper of the same dimensions and characteristics as the one found at the scene inside the cabin. Conclusion: The autopsy showed a maxillofacial trauma with multiple bruises on the face and a serious fracture of the epistropheus tooth. This trauma was therefore incompatible with a simple fall from 2 meters. The investigators created an experimental model that demonstrated a very high energy rebound of the tape when placed in contact with the scraper. This reconstruction made it possible to carry out a single report with the data collected by the medical examiner and the investigators, which was effective and exhaustive, allowing the Authority to be provided with the evidence to continue the investigations about the responsibilities of the worker and the employer.

Autoptic aspects in a case of autosomal dominant polycystic kidney disease.

Background: Polycystic kidney disease is a cystic genetic disease. There are two forms: an autosomal dominant one, more common and typical of adults, and an autosomal recessive one, rarer and present in childhood. The autosomal dominant form is caused by genetic mutations of the PKD1 gene in 85% of cases and of PKD2 in 10-15% of cases. Case Report: We reported a case of 56-year-old woman with ADPKD, who had a kidney transplant and who was hospitalized for respiratory failure from Covid 19 disease. She was intubated, sedated and dialyzed, treated with antibiotics, immunosuppressants, diuretics and heparin. CT scan of the abdomen showed multiple cysts of various sizes in the liver and multiple cysts in the kidneys. The patient died after 20 days because she was unresponsive to therapy. The autopsy showed milky ascitic fluid in the abdomen, massive gastric haemor-rhage, intestinal fungal plaques, hepatic and renal polycystosis. The kidneys measured a total of 27 cm with a total weight of about 9 kg. The liver parenchyma appeared cavernous with multiple cysts. The kidney cysts contained bloody liquid. Conclusions: The case demonstrates how important it is in these subjects to evaluate not only the kidneys but also the liver which could present polycystosis and cause liver failure, affecting the severity of the pathology and death. This data is important to emphasize in the clinical management of these patients a close monitoring of liver function also from a preventative perspective in life.

Analysis of toxicological findings related to immunofluorescence investigations.

Background: The subject of this article is the role of forensic toxicology in post-mortem examinations using immunofluorescence methods, its implications and its role in providing conclusive evidence for both criminal and civil proceedings. The aim of the study is to verify the correlation between the mode of death and the ingestion of exogenous substances and, if positive, to identify the category of substances ingested and assess their role in the cause of death. Materials and methods: A laboratory study was carried out, consisting of several phases: pre-analytical phase; analytical phase; post-analytical phase. The variables analyzed were sex, cause of death, age. Abused substances tested: amphetamines, methamphetamines, barbiturates, benzodiazepines, cocaine, methadone, opiates, tricyclic antidepressants, delta-9-tetrahydrocannabinol (cannabis), alcohol. Conclusions: Retrospective analysis was performed on a total sample of 55 cases. The most relevant data emerged: cocaine with an incidence of 7.3% (4 cases out of 55), amphetamines with 5.4% (3 cases in total). The results of the screening tests were then subjected to confirmatory tests. There is an association between the use of certain exogenous substances and an increased risk of certain causes of death, such as overdose, traffic accidents, cardiovascular deaths, etc. This paper has highlighted the possibility of using first level immunological tests, such as immunofluorescence, to provide preliminary answers to the judicial authority immediately after autopsy, and a quantitative deepening with further second level tests, such as gas chromatography, as a gold standard to determine the cause of death.

Forensic aspects analyzed in a case series of femicides.

Background: Gender-based violence against women and its lethal outcome, femicide, represent important issues around the world. Although governments have passed specific laws, official data on gender-related violence and femicide are often absent and/or incomplete, difficult to access, rarely updated, contested and underestimated due to stigma, victim blaming or issues of legal interpretation. Femicide is an intentional killing in which a woman is murdered by an individual for misogyny and gender-related reasons. The most common type is in fact intimate femicide, which occurs when the murdered woman and the aggressor have an intimate, family, cohabitation or similar relationship. Case series: We analyzed 15 cases of femicide for which crime scene investigation and autopsy were carried out. For each case, a psychological autopsy was carried out and the means used to determine the individual's death were analysed. The circumstances in which the murder occurred were also examined. Discussion: Overkilling was evidenced in all cases analyzed. Over-killing in forensic medicine is known as a specific type of homicide in which the number of injuries inflicted far exceeds the number of injuries required to kill the victim. Therefore, the medico-legal management of the cases examined is complicated due to the multiple lesions present on the corpse on the victims which make difficult: 1) the reconstruction of the dynamics of the crime 2) the number of blows inflicted 3) the analysis of the fatal blow 4) the imputability of the offender.

The artificial intelligence in autopsy and crime scene analysis.

Background: In the evolving field of forensic medicine, artificial intelligence (AI) technologies may revolutionize traditional autopsy practices by enhancing the precision and efficiency of postmortem examinations. Methods: A review of the literature was carried out on the Pub-med and Scopus search engines by inserting the keywords "artificial intelligence" AND "forensic" AND ("autopsy" OR "crime scene management" OR "forensic odontology" OR "post mortem interval" OR "forensic anthropology" OR "forensic sciences"). The works that analyzed the applications of artificial intelligence in the forensic and autopsy field were analyzed. Conclusion: The results showed the application of different forms of artificial intelligence such as machine learning, deep learning, robotics, artificial neural networks. Various applications are therefore possible in the autopsy field including forensic identification, analysis of radiological data through Virtopsy, estimation of the weapon used through analysis of firearm damage with ballistics, estimation of the Post-Mortem Interval (PMI), forensic toxicology. AI's potential to aid in the precise identification of causes of death, estimation of postmortem intervals. With forensic pathologists facing the constant challenge of making accurate diagnoses under pressure, AI applications can offer much-needed support by reducing subjective judgment and the inherent human error due to fatigue. Therefore, the integration of AI into autopsies, while promising in terms of efficiency and accuracy, demands a careful balance between technological advancement and ethical responsibility to ensure trust and integrity in forensic practices.

The role of operative protocols for the prevention of occupational infectious risk on the crime scene.

Background: Crime scenes are possible scenario of accidents for operators, despite those risks the are no operative protocols in literature. However, COVID-19 pandemic has affected in a positive manner the management of infectious risk, encouraging use of Personal protective equipment (PPE). The aim of the study is to deepen and examine the occupational risk of all health professionals involved in the analysis of the crime scene and biological material collection to develop an operational protocol that explains in detail all the strategies applicable to reduce it. Materials and Methods: We conducted a review of the literature researching among the main databases, such as: PUBMED, EMBASE, COCHRANE introducing as keywords: crime scene, medico-legal investigations, occupational risk, infections. Subsequently, we developed an operational protocol that is currently applied during the activity of the Institute of Forensic Medicine "Magna Graecia" of Catanzaro. Conclusion: The crime scene can show numerous dangers for operators, due to the presence of syringes, contaminated biological material or sharps or access to areas with poor hygienic and sanitary conditions. This paper shows various strategies that may be implemented to reduce the risk. The aim of this work is to focus on the occupational risk for operators by proposing an operative protocol showing in detail how to manage a crime scene by reducing the infectious risk for operators until the transfer of the body and the collected evidence to the morgue and to the laboratory.

MODY type 2 P59S GCK mutant: founder effect in South of Italy.

Mutations in the glucokinase (GCK) gene are the most frequent cause of maturity onset diabetes of the young (MODY) in Italy. We evaluated GCK mutations in 32 unrelated patients younger than 18 years who had been diagnosed with MODY. Eleven different GCK heterozygous mutations were identified in 22 (68.7%) of the 32 probands. Nine mutations were missense and two were nonsense. Three of these mutations (E17X, P59S and E372X) have not been described previously and were shown to be associated with hyperglycaemia. Several prediction methods suggested that the E17X and E372X mutations result in a premature truncated protein and that the P59S mutation is pathogenic. This idea was further supported by evidence suggesting that Proline 59 is a highly conserved amino acid residue and that the P59S mutation does not appear to be present in non-diabetic controls and in sequence variant databases. Furthermore, this mutation was found in six (27.3%) of the patients from the same geographical area, Gargano, pointing to the existence of a founder effect, which was confirmed by microsatellite analysis.

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

X-linked thrombocytopenia (XLT) is a rare recessive hereditary disorder characterized by isolated thrombocytopenia with small-sized platelets. The XLT locus has been located to chromosome Xp11 by linkage analysis, which is also where the recently cloned Wiskott-Aldrich syndrome (WAS) gene, maps. The relationship between XLT and WAS has long been debated; they might be due to different mutations of the same gene or to mutations in different genes. We now show that mutations in the WAS gene, different from those found in WAS patients, are present in three unrelated male patients with isolated thrombocytopenia and small-sized platelets. Our results demonstrate that XLT and WAS are allelic forms of the same disease, but the causes of the differences need to be further investigated.

Enterolith causing acute afferent loop syndrome after Billroth II gastrectomy: a case report.

Enterolith is a rare cause of afferent loop obstruction following Billroth II gastrectomy. We report a case of acute afferent loop syndrome (ALS) due to a huge enterolith, necessitating prompt surgery. The clinical pattern may mimic acute cholangitis and/or pancreatitis. Delayed diagnosis may result in severe complications such as bowel ischemia or perforation. Only 14 reported cases of enterolith causing afferent loop obstruction were found in the English literature.

Virtual reality for COPD rehabilitation: a technological perspective.

Virtual Reality (VR) is a promising technology for implementing personalized, motivating and controlled rehabilitation scenarios. Although its clear potential benefits, VR has been poorly investigated in pulmonary rehabilitation. This review analyses the state of the art, by searching the scientific and grey literature, regarding the use of VR for the rehabilitation of patients with chronic obstructive pulmonary disease, providing a technological perspective. First, the main characteristics of the included systems are presented in terms of visualization devices, way of interaction and type of feedback they provide. Then, results of the selected studies are reported considering feasibility, safety, usability and user experience as outcomes. Finally, the main findings are discussed and future directions for research are outlined.