Medico-legal recommendations to fight the silent war of femicide in Europe.

Femicide is a global phenomenon; yet there is no commonly accepted understanding of what counts as femicide. Different disciplines and approaches offer different definitions. Defining the term femicide is not only a purely lexical matter but also involves the aspect of data collection. Owing to the lack of a standardized definition, data collected by countries under this label are not comparable and cannot be used for global or regional estimates to provide an indication of the scale of this phenomenon. One tool to fight this silent war against women is certainly medical-legal diagnosis, with everything that the body of a victim of femicide can reveal. Autopsies are crucial; they can help differentiate between female homicide and femicide and the search for a formal, agreed-upon definition of femicide may be derived precisely from forensic pathology research and necropsy evidence. The autopsies performed and studies written on femicide cases are of extraordinary importance because they make it easy to identify which anatomical districts are most affected, which weapons are most frequently used, and where the bodies of victims of femicide are most often found. To curb this phenomenon, it is essential to act on several levels, starting with the national one. It is necessary to develop a data collection and processing system involving both law enforcement and forensic centers. It is also emphasized the relevance of creating a universal database that can be easily consulted, along the lines of the one that already exists in the United States.

Owner perceptions and experiences with equine necropsy.

In recent years, the number of horses submitted for necropsy has been in decline. This study aimed to identify the perceptions and barriers of equine necropsy through an online survey of horse owners. The data were analyzed by multivariate models for associations and factors that influenced decision making regarding necropsy. The survey yielded 1,366 usable responses. Respondents had higher familiarity with the term "autopsy" compared to "necropsy" (P < 0.001) and showed a greater level of comfort using the terms "body" and "mortality" compared to "carcass" (P < 0.001). Most respondents (82 %) had experienced euthanizing a horse, but few (27 %) were offered a necropsy. Of those offered a necropsy, a majority (81 %) opted to perform one. When asked about their reasons for choosing to have a necropsy performed, recommendations from veterinarians (77.87 OR, 95 % CI: 49.3, 127.5) and already knowing the cause of death (1.85 OR, 95 % CI: 1.2, 30) were positively associated while a benefit to herd health was negatively associated (0.55 OR, 95 % CI: 0.3, 1.0). Owning horses for use as competition animals (1.44 OR, 95 % CI: 0.9, 2.2), the desire for personal closure (1.76 OR, 95 % CI: 1.1, 2.9), and the goals to protect human health (1.29 OR, 95 % CI: 1.0, 1.6) and to improve herd health (1.43 OR, 95 % CI: 1.1, 1.9) were positively associated with a likelihood of choosing to have a necropsy performed or recommending necropsies in the future. This research highlights the need for education of horse owners about the option and benefits of necropsy, and the use of more societally accepted language.

Relationships between pig farm management and facilities and lung lesions' scores and between lung lesions scores and carcass characteristics.

BACKGROUND: The objective of this study was to examine the inter-relationships between pig farm management and facilities (as assessed by questionnaire) and post-mortem lung lesion (lung score assesment), which are the result of respiratory infections. The relationships between carcass characteristics and post-mortem lung lesion scores were also investigated. RESULTS: Questionnaire responses were collected from 22 self-selecting pig farmers about their farm facilities/management and health condition of the respiratory system of pigs, including the occurrence of clinical respiratory signs, results of laboratory testing for respiratory pathogens, and the use of respiratory vaccines. When fatteners were sent to the abattoir, their carcasses (n = 1,976) were examined for evidence of respiratory disease by lung lesion (pleuritis pneumonia-like (PP-like) and enzootic pneumonia-like (EP-like) lesions) scoring and the Actinobacillus pleuropneumoniae Index (APPI) was calculated. Carcass characteristics were recorded and, retrospectively, the prevalence of cachectic pigs was calculated. Using these variables, the relationships between farm facilities/management and lung lesions scores and the relationships between the latter and carcass characteristics and cachexia were explored. The key findings relating farm facilities and management to lung lesions were: slatted floors were associated with significantly higher EP-like lesions scores than litter bedding in weaners, single-stage fattening in the same building was associated with significantly higher EP-like lesions scores than two-stage fattening, but herd size, stocking density, use of all-in/all-out (AIAO) rule, technological break duration and variation in daily temperature did not affect lung lesions scores. The key findings relating lung lesion scores to carcass characteristics were: a significant, negative correlation between EP-like scores and carcass weight but not with other carcass characteristics, a significant positive correlation between PP-like scores and carcass meat content and prevalence of cachectic carcasses and a significant positive correlation between lung APPI and prevalence of cachectic carcasses. CONCLUSIONS: It can be concluded that both farm facilities and management affect lung lesions scores and that the latter affect carcass characteristics. Lung lesion scoring is an inexpensive technique suitable for rapid monitoring of large numbers of carcasses that can be performed after animal slaughter. It provides useful information to inform producers about possible deficits in farm facilities or management and is a predictor of economic loss due to poorer quality carcasses.

Measles vaccination - An underestimated prevention measure: Analyzing a fatal case in Hildesheim, Germany.

Measles and rubella are targeted for elimination in the WHO region Europe. To reach the elimination goal, vaccination coverage of 95% must be achieved and sustained, the genotype information has to be provided for 80% of all outbreaks and transmission chains of a certain variant must not be detected for >12 months. The latter information is collected at Germany's National Reference Center Measles, Mumps, Rubella (NRC MMR). We describe here an outbreak of measles occurring in Hildesheim. The outbreak comprised 43 cases and lasted 14 weeks. Surprisingly, a high number of vaccination failures was observed since 11 cases had received two doses of the MMR vaccine and 4 additional cases were vaccinated once. A 33-year-old woman passed away during the outbreak. She was the mother of 5 children between 4 and 16 years of age. Two schoolchildren contracted measles and passed it on to the rest of the family. Due to delivery bottlenecks, the vaccination of the mother was delayed. She developed measles-like symptoms 3 days after vaccination and was found dead on the morning of day 8 after vaccination. A post-mortem examination was done to identify the cause of death. Moreover, molecular characterization of the virus was performed to analyze whether she was infected by the wildtype virus circulating at that time in Hildesheim or whether the vaccine may have been a concomitant and aggravating feature of her death. The result showed that the samples taken from her at the time of death and during necropsy contained the wildtype measles virus variant corresponding to MVs/Gir Somnath.IND/42.16 (WHO Seq-ID D8-4683) that fueled the Hildesheim outbreak and circulated in Germany from March 2018 to March 2020. The vaccine virus was not detected. Moreover, two aspects uncovered by the post-mortem examination were remarkable; the woman died from giant cell pneumonia, which is a complication seen in immune-suppressed individuals and she was actively using cannabis. THC is known to influence the immune system, but literature reports describing the effects are limited.

Post-mortem examination of fatal acute type A aortic dissection: what does it teach us?

OBJECTIVES: Acute type A aortic dissection (ATAAD) remains a highly life-threatening condition. This study investigates factors associated with fatal ATAAD prior to surgical treatment. METHODS: We reviewed autopsy reports of ATAAD decedents who died before surgical intervention and underwent postmortem examination at our clinic from 1994 to 2022. RESULTS: Among 94 eligible cases, 50 (53.2%) decedents had DeBakey type I dissection, and 44 (46.8%) had DeBakey type II dissection. Most were males, 63 (67%), and 72 (77%) had a history of hypertension. The median age was 70.5 years, and the type II group was a decade older than the type I group (P < 0.001). Decedents in the type II group predominantly died during the first hour after symptoms onset 16 (52%), while in the type I group, fatalities occurred between 1 h and 1 day, 27 (66%). The most common site of the intimal tear was the midportion of the ascending aorta, 45 (48%). The median ascending aorta size was 5 cm for the entire cohort, 5.2 cm for type I and 4.6 cm for type II (P < 0.045). CONCLUSIONS: In this autopsy study of fatal acute aortic dissection, the median aortic size was below the current guideline threshold for elective repair. Type II acute aortic dissections were found more frequently than expected and were characterized by older age, advanced aortic atherosclerosis, smaller aortic size, a shorter interval from symptom onset to death and a higher frequency of syncope compared to type I dissection.

Fatal coronary perforation during percutaneous coronary intervention: The medico-legal interest in establishing the correlation between in vivo imaging and post-mortem histopathology.

A 64-year-old man diagnosed with chronic coronary syndrome (CCS) underwent elective percutaneous coronary intervention (PCI) to place a stent in a branch of the first diagonal artery. Fifteen minutes after the procedure, the patient suffered a cardiac arrest, which was subsequently determined to be caused by cardiac tamponade identified through ultrasound examination. Despite an hour of cardiopulmonary resuscitation, the patient died and a forensic investigation was requested by the public prosecutor. On review of the coronary angiography images, an extravasation of contrast was noted, which was classified as a type II perforation according to the Ellis classification. Autopsy revealed a hemorrhagic suffusion area on the anterior surface of the left ventricle with suspected epicardial discontinuity. Histopathological examination confirmed a complete rupture of the vessel wall in the distal section of the branch where the stent was placed, accompanied by adjacent hemorrhagic and fibrin-platelet material. The diagnosis of coronary perforation is typically made through imaging and histological confirmation is rarely obtained. In the present case, the correlation between in vivo imaging and post-mortem histopathology not only facilitated the precise localization of the coronary perforation but also had significant medico-legal implications in the assessment of presumed medical liability.

The psychological autopsy: An overview of its utility and methodology.

Objectives: The objective of this study is to provide an overview of the psychological autopsy (PA) research method, including its methodology, uses, limitations, and ethical considerations. Materials and Methods: The study conducted a PA investigation on 35 cases of suicide. Information was collected from multiple sources and reliable informants, including family members, friends, medical and mental health professionals, and other relevant individuals. Qualitative and quantitative research methods were used to analyze the collected information. Results: The results indicated that several factors were associated with suicide, including mental health problems, life stressors, interpersonal conflicts, substance abuse, and history of previous suicide attempts. The findings have important implications for suicide prevention strategies, emphasizing the significance of addressing mental health issues and providing social support. Conclusion: The PA is a valuable research method for investigating and understanding suicide. Despite challenges such as recall biases and methodological limitations, it provides insights into the psychological factors associated with suicide and informs suicide prevention strategies. However, conducting psychological autopsies requires careful consideration of ethical issues. Further research is needed to replicate and extend the findings of this study.

COVID-19-Related Myocarditis: Are We There Yet? A Case Report of COVID-19-Related Fulminant Myocarditis.

There is increasing evidence of cardiac involvement in COVID-19 cases, with a broad range of clinical manifestations spanning from acute life-threatening conditions such as ventricular dysrhythmias, myocarditis, acute myocardial ischemia and pulmonary thromboembolism to long-term cardiovascular sequelae. In particular, acute myocarditis represents an uncommon but frightening complication of SARS-CoV-2 infection. Even if many reports of SARS CoV-2 myocarditis are present in the literature, the majority of them lacks histological confirmation of cardiac injury. Here, we report a case of a young lady, who died suddenly a few days after testing positive for SARS-CoV-2, whose microscopic and genetics features suggested a direct cardiac involvement compatible with fulminant myocarditis.

Post-mortem CT radiomics for the prediction of time since death.

OBJECTIVES: Post-mortem interval (PMI) estimation has long been relying on sequential post-mortem changes on the body as a function of extrinsic, intrinsic, and environmental factors. Such factors are difficult to account for in complicated death scenes; thus, PMI estimation can be compromised. Herein, we aimed to evaluate the use of post-mortem CT (PMCT) radiomics for the differentiation between early and late PMI. METHODS: Consecutive whole-body PMCT examinations performed between 2016 and 2021 were retrospectively included (n = 120), excluding corpses without an accurately reported PMI (n = 23). Radiomics data were extracted from liver and pancreas tissue and randomly split into training and validation sets (70:30%). Following data preprocessing, significant features were selected (Boruta selection) and three XGBoost classifiers were built (liver, pancreas, combined) to differentiate between early (< 12 h) and late (> 12 h) PMI. Classifier performance was assessed with receiver operating characteristics (ROC) curves and areas under the curves (AUC), which were compared by bootstrapping. RESULTS: A total of 97 PMCTs were included, representing individuals (23 females and 74 males) with a mean age of 47.1 ± 23.38 years. The combined model achieved the highest AUC reaching 75% (95%CI 58.4-91.6%) (p = 0.03 compared to liver and p = 0.18 compared to pancreas). The liver-based and pancreas-based XGBoost models achieved AUCs of 53.6% (95%CI 34.8-72.3%) and 64.3% (95%CI 46.7-81.9%) respectively (p > 0.05 for the comparison between liver- and pancreas-based models). CONCLUSION: The use of radiomics analysis on PMCT examinations differentiated early from late PMI, unveiling a novel image-based method with important repercussions in forensic casework. CLINICAL RELEVANCE STATEMENT: This paper introduces the employment of radiomics in forensic diagnosis by presenting an effective automated alternative method of estimating post-mortem interval from targeted tissues, thus paving the way for improvement in speed and quality of forensic investigations. KEY POINTS: • A combined liver-pancreas radiomics model differentiated early from late post-mortem intervals (using a 12-h threshold) with an area under the curve of 75% (95%CI 58.4-91.6%). • XGBoost models based on liver-only or pancreas-only radiomics demonstrated inferior performance to the combined model in predicting the post-mortem interval.

[The patient has died now what? : Step by step-what happens with patients after their death?] / Patient tot was nun? : Schritt für Schritt ­ was passiert mit dem Patienten nach seinem Tod?

The determination of a person's death, the subsequent post-mortem examination and the creation of the death certificate are part of regular medical work. The post-mortem examination, which is exclusively a medical duty, must be carried out immediately after the determination of death and includes in particular the definition of the cause of death and the type of death, which, in the case of a non-natural or unexplained death, entails further investigations by the police or public prosecutor and sometimes also forensic examinations. This article aims to shed more light on the possible processes after the death of a patient.

Invasive Mucinous Adenocarcinoma with Acute Respiratory Distress Syndrome Diagnosed by Autopsy Findings.

We herein report a fatal case of invasive mucinous adenocarcinoma (IMA) with acute respiratory distress syndrome (ARDS) diagnosed based on autopsy findings. A 76-year-old man presented with severe respiratory discomfort on admission. Computed tomography (CT) revealed a peripheral distribution of consolidation. Although his respiratory status improved after steroid therapy, re-exacerbation occurred, and the patient died on day 131. A bronchoscopic lung biopsy had shown organizing pneumonia, but a post-mortem examination surprisingly revealed IMA with organizing pneumonia. IMA presenting with ARDS as the first symptom is extremely rare.

Livestreaming Can Augment the Observation of Veterinary Post-mortem Examinations.

The creation of interactive livestreaming post-mortem examination sessions for veterinary students is described, including the technological and pedagogical issues that were considered and a detailed description of the solution developed. We used the Hero 7 Go Pro camera ( https://gopro.com/en/gb ) and livestreamed using Zoom ( https://explore.zoom.us/en/about/ ). We completed a thorough quantitative and qualitative analysis of the student perception of the value of the streaming platform and the sessions that were delivered to the second and third year students in the Bachelor of Veterinary Medicine and Surgery (BVMS) programme at the University of Glasgow. JISC Online surveys to BVMS2 and BVMS3 were central to the quantitative and qualitative analysis (MVLS Ethics reference 200,190,190).Students who responded to the survey found the material interesting, were able to interact effectively with the pathologists, enjoyed the "pathologists' eye" view that the system afforded, and enjoyed the ability to review and revise the video recording. The disadvantage some mentioned was not being in the appropriate professional space, i.e. the post-mortem facility, although a few students found this advantageous and suggested that this was a useful introduction to the post-mortem facility but without the cold/smell/noise to detract from their learning. In addition, a short explanation of additional uses of the Zoom Go Pro to teach BVMS4 and Veterinary Bioscience BSc Level 3 students and use for extracurricular student activities, e.g. Pathology Club, Student Chapter of the American Veterinary Medical Association at the University of Glasgow School of Veterinary Medicine, is given. The authors also consider other roles for the platform in the future, in particular the induction of students to the post-mortem facility environment.

Introductory evidence on data management and practice systems of forensic autopsies in sudden and unnatural deaths: a scoping review.

Background: The investigation into sudden unexpected and unnatural deaths supports criminal justice, aids in litigation, and provides important information for public health including surveillance, epidemiology, and prevention programs. The use of mortality data to convey trends can inform policy development and resource allocations. Hence, data practices/management systems in Forensic Medicine are critical. This study scoped literature and described the body of knowledge on data management and practice systems in Forensic Medicine. Methods: Five steps of the methodological framework of Arksey and O'Malley guided this scoping review. A combination of keywords, Boolean terms, and Medical Subject Headings was used to search PubMed, EBSCOhost (CINAHL with full text and Health Sources), Cochrane Library, Scopus, Web of Science, Science Direct, WorldCat, and Google Scholar from the 18th to 24th of June 2020 and updated in November 2021 for peer review papers. This study included articles involving unnatural deaths, focused on data practice or data management systems, relating to Forensic Medicine, all study designs, and published in English. Screening and selection and data extraction were conducted by two reviews. Thematic analysis was conducted, and the results were reported using both quantitatively and qualitatively. Results: Of the 23,059 articles, 16 met this study's inclusion criteria. The included articles were published between 2008 and 2019. Eight of the 16 articles were published between 2017 and 2019. Most of the included studies were conducted in the USA (5) and Australia/New Zealand (4). Only two publications were from lower- and middle-income countries (Nigeria, Mexico), and the remaining 14 were from high-income countries (Italy, Denmark, USA, Australia, and New Zealand, Japan, Switzerland, Canada). The data management systems found in this study were as follows: Virtopsy, Canadian Coroner and Medical Examiner Database, Infant Injury Database, Fatal injury surveillance system, Medical Examiners and Coroners Alert System, National Violent Deaths Reporting System, AM/PM Database, Tokyo CDISC/ODM, and National Coronial Information System. Conclusions: This study's results revealed limited articles relating to data management and practice systems in Forensic Medicine, particularly in LMICs through literature indicating there is a prevalence of unnatural deaths in LMICs. This study, therefore, recommends research on data management and practice systems relating to forensic medicine in LMICs to inform policy decisions. Supplementary Information: The online version contains supplementary material available at 10.1186/s41935-022-00293-3.

Irish farmers' interactions with regional veterinary laboratories- reasons, results, reactions: a survey.

BACKGROUND: Animal health surveillance is important in ensuring optimal animal health and welfare. Monitoring of diagnostic submissions, including post-mortem examination of carcasses, at the Department of Agriculture Food and the Marine laboratories, provides the basis for this type of passive surveillance in Ireland. The process requires engagement from veterinarians and farmers from all sectors of the agricultural spectrum. This study aims to identify the reasons why farmers engaged in dairy, beef, sheep, and mixed farming enterprises submit carcasses or not to the Regional Veterinary Laboratories. RESULTS: Surveys were distributed in hard copy format at Regional Veterinary Laboratories, and fifty Teagasc facilitated farmer discussion groups. There were 1179 responses collected in 54 locations. The top reasons participants submitted to the laboratories were 1) to guide treatment/ vaccination, 2) fear of a contagious disease, and 3) if their veterinarian advised them to. The top reasons for not submitting were 1) the vet making a diagnosis on the farm, 2) the distance from the laboratory, and 3) lack of time and labour. Implementation of vaccination protocols was the main change implemented based on results, followed by management changes and the use of different treatments, e.g., switching from antibiotic to parasite treatment. Sheep enterprises were more likely than dairy to choose distance and cost as a reason not to submit. Dairying enterprises were more likely than other enterprise types to submit if they feared a contagious or zoonotic disease. CONCLUSION: Positively, this survey shows the desire of participants to submit to the laboratories to guide treatment and vaccination protocols, potentially indicating that positive engagement between stakeholders and the RVLs will help promote optimal animal health and promote responsible antimicrobial use. Results also show the critical role of veterinarians in continued disease surveillance on farms. Maintaining engagement with all farming sectors will be essential in promoting successful animal health surveillance.

Editor's Choice - Epidemiology, Diagnostics, and Outcomes of Acute Occlusive Arterial Mesenteric Ischaemia: A Population Based Study.

OBJECTIVE: The exact incidence and outcomes of acute occlusive arterial mesenteric ischaemia (AMI) are unclear as most studies include only patients diagnosed correctly while alive. The aim of this study was to assess the incidence, mortality, and diagnostics of AMI by also including patients diagnosed post-mortem. METHODS: This retrospective study comprised patients diagnosed with AMI either alive or post-mortem between 2006 and 2015 within a healthcare district serving 1.6 million inhabitants. Key exclusion criteria were venous or non-obstructive ischaemia. RESULTS: A total of 470 patients were included in the study of which 137 (29%) were diagnosed post-mortem. The most common misdiagnoses on those not diagnosed alive were unspecified infection (n = 19, 17%), gastrointestinal bleeding (n = 13, 11%), and ileus (n = 13, 11%). Of those diagnosed alive (n = 333), 187 (56%) underwent active surgical or endovascular treatment. During the 2006 - 2015 period, the overall incidence of AMI was 3.05 (95% CI 2.78 - 3.34)/100 000 person years and 26.66 (95% CI 24.07 - 29.45) for those aged 70 years or more. The mean autopsy rate during the study period was 29% for the overall population (32% during 2006 - 2010 and 25% during 2011 - 2015) and 18% for those aged 70 years or more. Overall, the 90-day mortality was 83% in all patients. The ninety day mortality decreased, being 87% during the first period (2006 - 2010) and 79% during the second period (2011 - 2015) (p = .029), while at the same time the proportion of patients diagnosed alive rose from 71% to 80% (p = .030) and the number of endovascular revascularisations rose from 1% to 5% (p = .022). CONCLUSION: A significant proportion of patients with AMI are not diagnosed alive, which is reflected in the mortality rates. Post-mortem examinations and autopsy rate data continue to be key factors in epidemiological studies on AMI.

Corynebacterium pseudotuberculosis Infections in Alpacas (Vicugna pacos).

Alpacas are the major camelid species in Europe held for hobbies, animal-aided therapy, and commercial reasons. As a result, health-related issues associated with alpacas are of growing significance. This especially holds true for one of the most serious infectious diseases, caseous lymphadenitis, which is caused by the bacterial pathogen Corynebacterium (C.) pseudotuberculosis. Our study focuses on post-mortem examinations, the laboratory diagnostic tool ELISA, and the immunoblot technique for the detection of specific antibodies against C. pseudotuberculosis and detection of the causative pathogen in alpaca herds. We examined a total of 232 alpacas living in three herds. Four of these alpacas were submitted for post-mortem examination, revealing abscesses, apostematous and fibrinous inflammation in inner organs, pleura, and peritoneum. Serological investigation using a commercial ELISA based on phospholipase D (PLD) as antigen and an in-lab ELISA based on whole cell antigens (WCA) revealed an overall seroprevalence of 56% and 61.2%, respectively. A total of 247 alpaca sera originating from 232 animals were tested comparatively using the in-lab and the commercial ELISA and showed a substantial degree of agreement, of 89.5% (Cohen's kappa coefficient of 0.784), for both tests. Further comparative serological studies using the two ELISAs and the immunoblot technique were carried out on selected sera originating from 12 breeding stallions and six breeding mares for which epidemiological data and partial C. pseudotuberculosis isolates were available. The results showed the immunoblot to have a sensitivity that was superior to both ELISAs. In this context, it should be emphasized that evaluation of these investigations and the epidemiological data suggest an incubation period of one to two months. Antibiotic susceptibility testing of 13 C. pseudotuberculosis isolates based on the determination of minimal inhibitory concentrations using the broth microdilution method revealed uniform susceptibility to aminopenicillins, cephalosporines, macrolides, enrofloxacin, florfenicol, tetracycline, sulfonamid/trimethoprime, tiamulin, gentamicin, neomycin, spectinomycin, and vancomycin, but resistance to colistin, nitrofurantoin, and oxacillin.

Passive Disease Surveillance of Alpine Chamois (Rupicapra r. rupicapra) in Slovenia between 2000 and 2020.

In this paper, we provide an overview of the causes of death of Alpine chamois (Rupicapra r. rupicapra) diagnosed in the national passive health surveillance of chamois in Slovenia. From 2000 to 2020, 284 free-ranging chamois provided by hunters were necropsied at the Veterinary Faculty, University of Ljubljana, Slovenia. Depending on the results of complete necropsy, histopathological, bacteriological, parasitological, and virological examinations, a descriptive data analysis was performed. The most common causes of death in chamois were infectious diseases (82.2%), followed by non-infectious diseases (11.8%). Of all the causes of death, parasitic infections accounted for 70.3%, trauma for 9.7%, and bacterial infections for 9.3% of all cases. Less common diseases were viral infections, neoplasms, winter starvation, and metabolic disorders.

Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.

Holoprosencephaly (HPE) is a clinically and genetically heterogeneous disease, which can be associated with various prenatal comorbidities not always detectable on prenatal ultrasound. We report on the case of a foetus carrying a semi-lobar HPE diagnosed at ultrasound, for which a fetal autopsy and a whole exome sequencing were performed following a medical termination of pregnancy. Neuropathological examination confirmed the semi-lobar HPE and general autopsy disclosed a total pancreas agenesis. Whole exome sequencing found the CNOT1 missense c.1603C>T, p.(Arg535Cys), occurring de novo in the foetus. The same variant was previously reported in 5 unrelated children. All individuals had HPE, and 4 out of 5 presented endo- and exocrine pancreatic insufficiency or total pancreas agenesis. CNOT1 encodes a subunit of the CCRN4-NOT complex, expressed at the early stage of embryonic development. This report is the first fetal description of the phenotype associating HPE and pancreatic agenesis linked to the recurrent CNOT1 missense c.1603C>T, p.(Arg535Cys). This finding strengthens the hypothesis of a specific recurrent variant associated with a particular phenotype of HPE and pancreas agenesis. The fetal autopsy that revealed the pancreas agenesis was crucial in guiding the genetic diagnosis and enabling accurate genetic counselling.

Sudden Unexpected Death in Infancy [SUDI]: What the clinician, pathologist, coroner and researchers want to know.

The loss of an apparently healthy infant is confronting for any family, puzzling for a clinician and challenging for the pathologist charged with the task of demonstrating a cause for death. The term "cot death" evolved to "sudden infant death syndrome" [SIDS] and now "sudden unexpected death in infancy [SUDI]" as the epidemiology and pathology of infant death changed. Community interventions were successful in changing sleep practices for young babies. The current research focus is on understanding genetic predispositions to unexpected death in early childhood. Whilst much has been achieved in reducing the infant mortality rate from SUDI by between 50%, and 80% in some countries, over the last 30 years, there remain challenges for improving rates of accurate diagnosis and reaching out to more vulnerable families with clearly modifiable risk factors for SUDI. These challenges directly involve the clinician through taking a systematic and detailed history and better standardised death scene evaluations with specifically accredited assessors. Better knowledge regarding circumstances of SUDI cases will help Coroners and researchers provide answers for grieving families now, and in the future contribute to further reductions in the rate of SUDI in communities across the world.

Medico-legal analysis of cases of children who died suddenly due to pneumonia undiagnosed in their lifetime. / Sadowo-lekarska analiza przypadków dzieci zmarlych nagle z powodu nierozpoznanego za zycia zapalenia pluc.

Pneumonia is one of the most common causes of children's hospitalization and death. The aim of the study was a medico-legal analysis of children who died suddenly due to pneumonia undiagnosed in their lifetime. The research was of a retrospective character and consisted in an analysis of prosecution files. The study included 47 children who died between 2011-2018 in whom pneumonia after post-mortem examination was indicated as the cause of death, as well as children in whom the cause of death, despite additional post-mortem examinations, including histopathological tests, was not established. In some cases, under additional post-mortem examinations, additional targeted immunohistochemical staining of selected lung sections was performed to establish the diagnosis. In children with prodromal symptoms, histopathological examination showed significantly more frequent atelectasis than in children without prodromal symptoms. Pneumonia is a significant clinical problem. Especially in young children, it may proceed with- out any symptoms that would cause such a diagnosis to be made. A properly conducted post-mortem diagnosis supplemented by immunohistochemical examinations allows to reduce the number of unexplained deaths in children.