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In most experimental protocols, false starts are produced on dry bones obtained through a maceration process for anthropological analyses, for the sake of reproducibility. Although this allows for controlled experimental conditions, the absence of soft parts when experimentally creating false starts does not correspond to the real conditions of criminal dismemberment. The main objective of this study was to determine if the results of experimental work on the characteristics of false starts were valid under medico-legal conditions. In this experimental study, a hand saw (rip saw, wavy set, TPI 32) was used. 240 false starts were produced on human and pig bones. Randomly, the false starts were either produced on a dry bone or on a flesh bone. The criteria for microscopic analysis included the shape of the walls, the shape and visibility of striae on the floor, the shape of the profile, and the minimum width of the false start. On human bone, 100% of the false starts produced on a bone that had previously undergone a maceration process for anthropological analyses (dry bone) allowed the definition of all the blade characteristics. This was the case for 78.3% on bone in the presence of soft tissue (flesh bone). The striae on the floor of the false start are in some cases less visible with flesh bones, implying that it may be more difficult to conclude on the characteristics of a saw under medico-legal conditions., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

To investigate the role of the nuclear receptor NR5A1 in the testis after sex determination, we analyzed mice lacking NR5A1 in Sertoli cells (SCs) from embryonic day (E) 13.5 onwards. Ablation of Nr5a1 impaired the expression of genes characteristic of SC identity (e.g. Sox9 and Amh), caused SC death from E14.5 onwards through a Trp53-independent mechanism related to anoikis, and induced disorganization of the testis cords. Together, these effects caused germ cells to enter meiosis and die. Single-cell RNA-sequencing experiments revealed that NR5A1-deficient SCs changed their molecular identity: some acquired a 'pre-granulosa-like' cell identity, whereas other reverted to a 'supporting progenitor-like' cell identity, most of them being 'intersex' because they expressed both testicular and ovarian genes. Fetal Leydig cells (LCs) did not display significant changes, indicating that SCs are not required beyond E14.5 for their emergence or maintenance. In contrast, adult LCs were absent from postnatal testes. In addition, adult mutant males displayed persistence of Müllerian duct derivatives, decreased anogenital distance and reduced penis length, which could be explained by the loss of AMH and testosterone synthesis due to SC failure., Competing Interests: Competing interests The authors declare no competing or financial interests., (© 2023. Published by The Company of Biologists Ltd.)

Sex estimation from skeletal remains is one of the crucial issues in forensic anthropology. Long bones can be a valid alternative to skeletal remains for sex estimation when more dimorphic bones are absent or degraded, preventing any estimation from the first intention methods. The purpose of this study was to generate and compare classification models for sex estimation based on combined measurement of long bones using machine learning classifiers. Eighteen measurements from four long bones (radius, humerus, femur, and tibia) were taken from a total of 2141 individuals. Five machine learning methods were employed to predict the sex: a linear discriminant analysis (LDA), penalized logistic regression (PLR), random forest (RF), support vector machine (SVM), and artificial neural network (ANN). The different classification algorithms using all bones generated highly accuracy models with cross-validation, ranging from 90 to 92% on the validation sample. The classification with isolated bones ranked between 83.3 and 90.3% on the validation sample. In both cases, random forest stands out with the highest accuracy and seems to be the best model for our investigation. This study upholds the value of combined long bones for sex estimation and provides models that can be applied with high accuracy to different populations., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Sex estimation of skeletal remains is one of the most important tasks in forensic anthropology. The radius bone is useful to develop standard guidelines for sex estimation across various populations and is an alternative when coxal or femoral bones are not available.The aim of the present study was to assess the sexual dimorphism from radius measurements in a French sample and compare the predictive accuracy of several modelling techniques, using both classical statistical methods and machine learning algorithms.A total of 78 left radii (36 males and 42 females) were used in this study. Sixteen measurements were made. The modelling techniques included a linear discriminant analysis (LDA), flexible discriminant analysis (FDA), regularised discriminant analysis (RDA), penalised logistic regression (PLR), random forests (RF) and support vector machines (SVM).The different statistical models showed an accuracy of classification that is greater than 94%. After selection of variables, the accuracies increased to 97%. The measurements made at the proximal part of the radius (sagittal and transversal diameters of the head, and sagittal diameter of the neck), at distal part (maximum width of the distal epiphysis) and of the entire bone (maximum length) stand out among the various models.The present study suggests that the radius bone constitutes a valid alternative for sex estimation of skeletal remains with comparable classification accuracies to the pelvis or femur and that the non-classical statistical models may provide a novel approach to sex estimation from the radius bone. However, the extrapolation of the current results cannot be made without caution because our sample was composed of very aged individuals., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

In cases of criminal dismemberment, the analysis of saw marks helps to determine the class of the saw used. The present study compared the microscopic features of experimental false starts performed on three freshly defleshed human femurs. 150 lesions were produced using three reciprocating blades and two hand saws of similar class. Two groups of tools were created according to the class of the blades: group 1 (teeth per inch = 6, alternating set) and group 2 (teeth per inch = 24, wavy set). The minimum width of the kerf was always thicker with reciprocating blades than that of the handsaw of the same class. This fact is linked to the thickness of the blades and not necessarily to the fast forth and back motion of the blades. Shape kerf profiles and shape of the walls were very confusing, with a lot of variation of the false starts caused by the reciprocating blades and the risk of misclassification (rip teeth versus crosscut teeth, alternating set versus wavy set). Striae on the kerf floor and bone islands were more consistent. The main conclusions are, first, that usual features of false starts achieved by reciprocating saw blades used in this work vary a great deal and may lead to misclassification of the saw class, and second, that no criterion has been found to differentiate reciprocating blades and handsaws. These results demonstrate that we have to be very prudent while estimating the possible saw from a false start in a real forensic case., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Despite the fact that the cell cycle is a fundamental process of life, a detailed quantitative understanding of gene regulation dynamics throughout the cell cycle is far from complete. Single-cell RNA-sequencing (scRNA-seq) technology gives access to these dynamics without externally perturbing the cell. Here, by generating scRNA-seq libraries in different cell systems, we observe cycling patterns in the unspliced-spliced RNA space of cell cycle-related genes. Since existing methods to analyze scRNA-seq are not efficient to measure cycling gene dynamics, we propose a deep learning approach (DeepCycle) to fit these patterns and build a high-resolution map of the entire cell cycle transcriptome. Characterizing the cell cycle in embryonic and somatic cells, we identify major waves of transcription during the G1 phase and systematically study the stages of the cell cycle. Our work will facilitate the study of the cell cycle in multiple cellular models and different biological contexts., (© 2022. The Author(s).)

The greater sciatic notch (GSN) is a useful element for sex estimation because it is quite resistant to damage, and thus it can often be assessed even in poorly preserved skeletons. This study aimed to develop statistical models for sex estimation based on visual and metric analyses of the GSN, and additional variables linked to the GSN. A total of 60 left coxal bones (30 males and 30 females) were analysed. Fifteen variables were measured, and one was a morphologic variable. These 16 variables were used for the comparison of six statistical models: linear discriminant analysis (LDA), regularized discriminant analysis (RDA), penalized logistic regression (PLR) and flexible discriminant analysis (FDA), and two machine learning algorithms, support vector machine (SVM) and artificial neural network (ANN). The statistical models were built in two steps: firstly, only with the GSN variables (group 1), and secondly, with the whole variables (group 2), in order to see if the models including all the variables performed better. The overall accuracy of the models was very close, ranging from 0.92 to 0.97 using specific GSN variables. When additional variables starting from the deepest point of GSN are available, it is worth to use them, because the accuracy increases. PLR (after optimization of parameters) stands out from other statistical models. The position of the deepest point of GSN (Fig. 2) probably plays a crucial role for the sexual dimorphism, as stated by the good performance of the visual assessment of this point and the fact that the A2 angle (posterior angle with the deepest point of the GSN as the apex) is included in all models., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

In forensic anthropology, saw mark analysis plays an important role in cases of criminal dismemberment. Autopsy saw is not used by the perpetrator in cases of dismemberment, but the forensic pathologist may accidentally create false starts with this saw during an autopsy, especially while sampling bones for further analysis, and these autopsy false starts can be confused with false starts produced by the offender. In this study, the characteristics of 20 false starts were compared using stereomicroscopy (SM) and scanning electron microscopy (SEM). These bone false starts were selected at random from a previous study of 100 false starts created by an electrical oscillating autopsy saw on human femoral bones. That study had enabled the categorization of the lesions into two groups ("superficial group" and "deep group") with a 0.52 mm depth cut off, based on the dramatic differences in lesion characteristics between these two groups. In the current study, SEM confirmed the characteristics of the false starts (walls and profile shapes, striae, bone islands and bone debris were studied), and above all explained the mechanism whereby oval bone islands in deep lesions are formed. Bone islands are due to the horizontal and vertical movement of the oscillating autopsy blade., Competing Interests: Conflict of Interest We declare that there is no conflict of interest., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Background: Malaria is a potentially lethal parasitic disease due to infection by Plasmodium parasites, transmitted by Anopheles mosquito vectors. Various preventative measures may be recommended for travellers who visit endemic areas. The diagnosis is generally evoked in the context of a febrile patient returning from an endemic zone. Nevertheless, symptoms and clinical signs may be difficult to interpret, and fatal cases may only be diagnosed retrospectively with laboratory techniques, specific pathological features and patient history. The present work reports a case of fatal cerebral malaria diagnosed post-mortem, along with the techniques that allowed identification of the causative agent., Case Presentation: A 29 year-old male was found dead in his rental home during a vacation in Southern France. In the absence of explainable cause, an autopsy was performed, which did not retrieve major lesions. In the context of frequent business-related travels in tropical Africa, several samples were adressed for parasitological examination. Microscopy techniques, along with immunochromatographic and molecular biology assays, led to post-mortem diagnosis of fatal cerebral malaria. It was discovered in retrospect that the patient had not used preventative measures against malaria when travelling in endemic zones, and had not been provided with proper travel medicine counseling prior to his travel., Conclusion: A vast proportion of imported malaria cases reported in France concerns patients who did not use preventive measures, such as bed nets, repellents or chemoprophylaxis. Given the wide availability of prevention tools in developed countries, and the important number of declared imported malaria cases, there is no doubt traveller awareness still needs to be raised. Moreover, healthcare professionals should always question travel history in febrile patients. The authors advocate for recurrent information campaigns for travellers, and physician training for a better prevention and diagnosis of malaria cases.

Gametes are generated through a specialized cell differentiation process, meiosis, which, in ovaries of most mammals, is initiated during fetal life. All- trans retinoic acid (ATRA) is considered as the molecular signal triggering meiosis initiation. In the present study, we analyzed female fetuses ubiquitously lacking all ATRA nuclear receptors (RAR), obtained through a tamoxifen-inducible cre recombinase-mediated gene targeting approach. Unexpectedly, mutant oocytes robustly expressed meiotic genes, including the meiotic gatekeeper STRA8. In addition, ovaries from mutant fetuses grafted into adult recipient females yielded offspring bearing null alleles for all Rar genes. Thus, our results show that RAR are fully dispensable for meiotic initiation, as well as for the production of functional oocytes. Assuming that the effects of ATRA all rely on RAR, our study goes against the current model according to which meiosis is triggered by endogenous ATRA in the developing ovary. It therefore revives the search for the meiosis-inducing substance., (Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC).)

Postmortem dismemberment results from the use of sharp or sharp blunt instruments. Saws produce specific bone lesions, and the observation of certain saw mark features allows for the recognition of certain characteristics of the saw and its teeth. At autopsy, sections of the skull and other parts of the skeleton are usually achieved using an electrical oscillating autopsy saw. In cases of dismemberment, this autopsy saw may create additional marks to those produced by the criminal activity. In order to help the forensic pathologist to differentiate the two types of marks, this experimental study used a stereomicroscope to examine 130 experimental false starts produced on animal and human bones by an oscillating autopsy saw. A flagrant succession of narrow and wide aspects of the walls (in a "figure of 8" shape), with obvious oval bone islands and undulating striae are patterns typically left behind by oscillating autopsy saws, but the depth of the false starts plays an important role in the variation of the features. In particular, superficial false starts tend to be associated with larger kerf widths, straight walls, and longitudinal bone islands.

Cases of criminal dismemberment are encountered in forensic pathology and forensic anthropology. Saw mark analysis aims to determine the type of saw that was used: hand saw versus electrical saw, crosscut and universal saw versus rip saw, size of the teeth ("teeth per inch" TPI), and set type. The goal of this study was to analyze using a stereomicroscope a series of 60 experimental false starts (30 lesions for each saw) produced on human bones by two different handsaws with a high TPI (15 and 32). The lesions caused by these high TPI saws have rarely been described in the forensic literature. Saw 2 (rip hacksaw with a 32 TPI and a wavy set) displayed classical features. In contrast, saw 1 (universal panel saw, TPI 15, alternating set) did not produce the expected characteristics: the minimum width of the kerf was weak, the kerf walls were straight, the striae were straight, and the kerf profile was very peculiar with a succession of peaks and dips that has not yet been described.

Forensic pathology and forensic anthropology are inherently related fields. The observations made during the autopsy and the conclusions from the anthropological analysis highlight the complementarities between the two approaches. In this review, gunshot wounds, sharp force injuries, chop wounds, blunt trauma, burned bodies, mechanical asphyxia and dismemberment will be analyzed from both perspectives. The result of this systematic review is that the conclusions stemming from the presence or absence of bone injuries must be very cautious because the observation of severe bone lesions does not always mean that this trauma was the cause of death; conversely, traumatic death, and even homicide, can be associated with a complete absence of bone lesions., (Copyright © 2019 Elsevier B.V. All rights reserved.)

The terrorist attack of July 14, 2016 in Nice (France) was a devastating event. A man voluntarily drove a truck into a crowd gathered for the fireworks display on the seaside "Promenade des Anglais," plowing pedestrians down over more than 2 km before being shot dead. At the time of this report, a total of 86 casualties and more than 1200 formal complaints for physical and psychological injuries have been recorded. The aim of this work is to describe the forensic management of this event and its immediate aftermath. This paper reaffirms the basic tenets of disaster management: a single place of work, teamwork in times of crisis, a single communication channel with families and the media, and the validation of the identifications by a multidisciplinary commission. This paper highlights other essential aspects of the organization of the forensic effort put in place after the Nice attack: the contribution of the police at the crime scene, the cooperation between the disaster victim identification (DVI) team, and the forensic pathologists at the morgue, applying the identification (ID) process to unconscious victims in the intensive care unit, the input of volunteers, and the logistics associated with the management of the aftermath of the event. All of the victims were positively identified within 4 and a half days. For the first time in such a paper, the central role of medical students in the immediate aftermath of the disaster is outlined. The need to address the possible psychological trauma of the non-medical and even the medical staff taking part in the forensic effort is also reaffirmed.

In this experiment, 170 experimental false starts on human (120 lesions) and pig bones (50 lesions) were analyzed under stereomicroscope. The goal was to evaluate the potential of three "secondary" features (patterns of striae on the kerf floor, blade drift and bone islands) to diagnose saw class and saw set. We also assessed the performance of each of these features in ambiguous cases observed in a previous study, based on three main characters (minimum width of the kerf, shape of the kerf walls, and shape of the kerf profile). Among these three "secondary" features, striae on the kerf floor proved to be useful: the undulating or undulating/straight pattern of the striae on the kerf floor indicates an alternating set whereas thin and straight striae indicates a wavy set. Blade drift and bone islands may be indicative of large teeth size. These secondary features, in combination with the three main characters previously studied, may help identify the class of the saw., (Copyright © 2018. Published by Elsevier B.V.)

Twenty mummies discovered in a forensic context between 2002 and 2016 were compiled in this work. 15 cases were excluded and 15 cases of forensic mummies were found in the literature. In the current work the percentage of mummification was calculated by "the rule of nines" used for describing burned injuries in livings. Dry and hot environments, emaciation, little access to flies are favorable conditions for mummification. Nevertheless mummification was also observed in other cold and humid environments. Extensive mummification (defined in this work as "at least 50% of mummification of the body skin) has occurred in as little as three weeks in the current series. The post mortem interval was estimated by indirect clues. The cause of death was usually impossible to establish., (Copyright © 2018 Elsevier B.V. All rights reserved.)

This experimental study examined lesions produced by a hatchet on pig femurs before and after carbonization. A total of 30 lesions were produced and analyzed using stereomicroscopy and then reexamined after carbonization. Not only was the sharp-blunt mechanism of the hacking trauma (V-shape, regularity of one edge, irregularity of the other edge, upraising, lateral pushing back, fossae dug laterally to the edge) still recognizable after carbonization; in some instances, the carbonization actually enhanced the features observed. Carbonization also did not significantly alter the measurements of the lesions. Carbonization tends to alter the structure of the bone especially in areas weakened by the blunt trauma.

The ready availability of butane makes butane abuse frequent. Fatalities are rare. This study presents two cases of death by butane overdose. The postmortem analyses were carried out using headspace gas chromatography-mass spectrometry. It revealed femoral blood butane concentrations of 18 and 22 mg/L, respectively, as well as specific combinations of adjuvants in each victim. In one of the victims, brain and fatty tissue also contained butane, pointing to chronic consumption. The originality of this study is to show that the identification of specific combinations of adjuvants can be helpful for identifying the brand of deodorant used. Also, sampling the skin and mucosa can help identify the method of drug delivery. The histological examination documented both the direct toxic effect of the gas on the respiratory mucosa and signs of chronic abuse. Volatile substance intoxications should be systematically considered in case of sudden death in a teenager., (© 2017 American Academy of Forensic Sciences.)

Decapitation following suicidal hanging is rarely encountered in forensic practice. The authors report a case of suicidal hanging resulting in decapitation following a fall of 5m. This case is compared with 30 cases found in the literature. Several factors including type of rope, skin abrasion, level of the severed vertebrae, thyroid cartilage and hyoid bone injuries and vital signs are studied. The force applied to the neck and the kinetic energy were calculated. The kinetic energy (ranging from 1820 to 7310J) takes into account the weight of the victim but also the length of the rope (height of the fall). The speed of the body as it is stopped by the rope ranged between 6.49 and 14.01ms -1 ., (Copyright © 2017 Elsevier B.V. All rights reserved.)

This experimental study examined the lesions produced by a hatchet on human bones (tibiae). A total of 30 lesions were produced and examined macroscopically (naked eye) and by stereomicroscopy. 13 of them were also analyzed using scanning electron microscopy. The general shape of the lesion, both edges, both walls, the kerf floor and the extremities were described. The length and maximum width of the lesions were also recorded. The microscopic analysis of the lesions led to the description of a sharp-blunt mechanism. Specific criteria were identified (lateral pushing back, fragmentation of the upraising, fossa dug laterally to the edge and vertical striae) enabling the forensic expert to conclude that a hacking instrument was used. These criteria are easily identifiable using scanning electron microscopy, but can also be observed with stereomicroscopy. Overall, lateral pushing back and vertical striae visible using stereomicroscopy and scanning electron microscopy signal the use of a hacking tool.

The DSP method (probabilistic sex diagnosis) was applied to100 contemporary coxal bones from elderly individuals of the South of France. Ten variables with a posterior probability greater or equal to a 0.95 threshold were used. There was no statistical difference between right side and left side measurements. There was no mistake for sex assignment but the level of indetermination varied a great deal. It was higher in females than in males. The best combinations were obtained when using all 10 variables, some combination of 9 variables (all except SS or SIS or VEAC) or the first 8 variables. We conclude that the DSP method is of great interest in forensic anthropology, thanks to a very weak possibility of mistake when using the software for sex determination of the coxal bone. The main drawback is the level of indetermination that can be high depending on the available variables., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

This experimental study examined false starts because these are seldom discussed in the forensic literature and usually concern animal bones rather than human bones. We created 170 experimental false starts (50 on pig femurs and 120 on human femurs) using five different saws (4 with an alternating set of teeth, and one with a wavy set). Teeth per inch (TPI) ranged from 7 to 24. Saws were classified as either rip saws or universal saws. The bone lesions were studied using stereomicroscopy. This study focused on three features that are easily observed with a stereomicroscope: the minimum width of the kerf, the profile of the lesions (concave or convex), and the shape of the edges (narrow-wide pattern, necking in the middle, or straight pattern). These features proved to be useful clues to recognize the class of the saw. Our study found some variability between lesions but also some repetitive features that allow for the classification the handsaws studied according to class. There were also some significant differences in lesions between pig bones and human bones, suggesting that pig femurs (versus human femurs) are not always a good alternative for studying saw marks., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Fragile X syndrome (FXS) is caused by the absence of the Fragile X Mental Retardation Protein (FMRP) in neurons. In the mouse, the lack of FMRP is associated with an excessive translation of hundreds of neuronal proteins, notably including postsynaptic proteins. This local protein synthesis deregulation is proposed to underlie the observed defects of glutamatergic synapse maturation and function and to affect preferentially the hundreds of mRNA species that were reported to bind to FMRP. How FMRP impacts synaptic protein translation and which mRNAs are most important for the pathology remain unclear. Here we show by cross-linking immunoprecipitation in cortical neurons that FMRP is mostly associated with one unique mRNA: diacylglycerol kinase kappa (Dgkκ), a master regulator that controls the switch between diacylglycerol and phosphatidic acid signaling pathways. The absence of FMRP in neurons abolishes group 1 metabotropic glutamate receptor-dependent DGK activity combined with a loss of Dgkκ expression. The reduction of Dgkκ in neurons is sufficient to cause dendritic spine abnormalities, synaptic plasticity alterations, and behavior disorders similar to those observed in the FXS mouse model. Overexpression of Dgkκ in neurons is able to rescue the dendritic spine defects of the Fragile X Mental Retardation 1 gene KO neurons. Together, these data suggest that Dgkκ deregulation contributes to FXS pathology and support a model where FMRP, by controlling the translation of Dgkκ, indirectly controls synaptic proteins translation and membrane properties by impacting lipid signaling in dendritic spine.

The authors report a fatal case of blunt trauma to the skull caused by a rib of a beach umbrella. The skull displayed a round hole in the right temporal bone with typical internal beveling. Blunt trauma mimicking a gunshot wound (round perforation of the skull with internal beveling) is very rarely reported in the forensic literature.

The measurement of the femoral head is usually considered an interesting variable for the sex determination of skeletal remains. To date, there are few published reference measurements of the femoral head in a modern European population for the purpose of sex determination. In this study, 116 femurs from 58 individuals of the South of France (Nice Bone Collection, Nice, France) were studied. Three measurements of the femoral head were taken: the vertical head diameter (VHD), the transversal head diameter (THD) and the head circumference (HC). The results show that: (i) there is no statistical difference between the right and left femurs for each of the three measurements (VHD, THD and HC). Therefore we arbitrarily chose to use the measures from the right femurs (N=58) to pursue our experiments; (ii) the measurements of the femoral head are similar to those of contemporary American populations; (iii) the dimensions of the femoral head place the measurements of the French population somewhere between Germany or Croatia, and Spain; (iv) there is no significant secular trend (in contrast with the femoral neck diameter); (v) the femoral head measurement as a single variable is useful for sex determination: a 96.5% rate of accuracy was obtained using THD and HC measurements with the artificial neural network; and a 94.8% rate of accuracy using VHD, both with the discriminant analysis and the neural network., (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)

We report the case of a child succumbing to heatstroke caused by confinement in an icebox. The post mortem examination found cyanosis and hematomas indicating that the child had tried to get out of the container. The temperature of the body was higher than it should have been considering the rigor and delay before post mortem examination. The autopsy showed no significant injury and toxicological tests were negative. A physiological study etablished that death resulted from heatstroke, not a lack of oxygen or CO2 poisoning. We conclude that heat stroke should be considered as a possible mechanism of death even in the absence of context of environmental hyperthermia. We recommend that in these situations involving confinement, establishing the mechanism of death should be done not only on the basis of a detailed post-mortem examination to rule out other causes of death, but also based on complete physiological investigations., (Copyright © 2015 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.)

Positive (certain, absolute) identification of human remains needs a scientific comparison between ante mortem and post-mortem biologic features, as fingerprint, odontological, radiological or DNA comparisons. X-rays comparison has been extensively used, usually comparing some peculiarities such as outlines of the bones, degenerative evolution or pathological conditions. Trabeculae comparisons are sparsely underlined in the forensic literature. We report on a case of decomposed body where fingerprint, DNA and odontological comparisons were not possible. After dissecting the leg and preparing the bones, comparison of ante mortem and postmortem trabeculae led to a positive identification. It was observed that tens of radiolucencies and radiodensities drawn by the trabeculae were useful for comparison, within a very small part of bone. In the case reported here the positive identity could have been assessed only by the comparison of the first metatarsal. The statement of positive identification needs scientific criteria that will be discussed in this article., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

We present a surprising case of suicide by self-immolation. A surveillance camera filmed the victim's agony. We were able to ascertain that he survived 13 min after ignition. This case was the starting point for a review of the literature of the forensic elements required to correctly analyze cases of suicide by self-immolation and to establish the causal link between the burn lesions and death. The authors will focus on the forensic and medical aspects in favor of suicide by self-immolation and on the forensic aspects required to understand the ignition process, the circumstances surrounding the fire with a particular emphasis on determining whether an accelerant was doused on the victim before ignition., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

Three cases of cremation on open-air pyres are described. One was classified as a suicide and two as homicides. Fire duration was estimated at approximately 1 h, close to 2 h and more than 3 h, respectively. The position of the remains, the colour alteration of bone and the burned bone fractures biomechanics are discussed. Knowledge of normal burn patterns in fire and detection of perimortem lesions are essential. These three cases highlight the specific thermal alterations and burning processes in accordance with fire duration. In each case, careful investigation yielded clues as to the manner of death. Close cooperation between law enforcement and forensic pathology investigators is required in order to correctly identify the circumstances of death., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

Sex determination is of paramount importance in forensic anthropology. Numerous anthropological methods have been described, including visual assessments and various measurements of bones. Nevertheless, whatever the method used, the percentage of correct classification of a single bone usually varies between 80% and 95%, due to significant intra- and inter-population variations, and sometimes variations coming from secular trends. DNA is increasingly used in a forensic context. But forensic DNA extraction from bone raises several issues, because the samples are very often badly altered and/or in very small quantity. Nuclear DNA is difficult to get from degraded samples, according to low copy number, at least in comparison with mitochondrial DNA. In a forensic context (as in a paeleoanthropological context) DNA sex determination is usually complicated by the weak amount of DNA, the degraded nature of nucleic acids, the presence of enzymatic inhibitors in DNA extracts, the possible faint amplification of Y band and the risk of contamination during either excavation or manipulation of samples. The aim of this work was to compare three methods of DNA sex determination from bones: procedure #1 using a single PCR amplification, procedure #2 using a double PCR amplification, and procedure #3 adding bleaching for decontamination of the bone, instead of simply rubbing the bone. These processes were applied to samples of bones (49 samples coming from 39 individuals) that were in various states of post mortem alteration. The main results are the following. (i) No DNA could be extracted from three skulls (parietal bones, mastoid process), the compact bone of one rib, and the diaphysis of one femur; (ii) there was a contamination in three skulls; and (iii) the Y band did not appear in two male cases, with one of the three procedures (male tibia, procedure #2) and with procedures #2 and #3 (male femur). This study emphasises the main issue while working with altered bones: the impossibility to extract DNA in some cases, and, worth of all, the contamination of the sample or the faint amplification of Y band which leads to a wrong sex answer. Multiple and significant precautions have to be taken to avoid such difficulties., (Copyright © 2013 Forensic Science Society. Published by Elsevier Ireland Ltd. All rights reserved.)

The authors present 2 new cases of so-called spontaneous human combustion. The first observations of isolated body combustion, to use a more appropriate term, date back to the 17th century. Its main features are that some parts of the body (usually the middle third) are badly burnt to the point of being reduced to ashes, contrasting with other well-preserved body parts and the intact or nearly intact immediate vicinity of the body. Usually, combustion occurs postmortem, and a source of heat is found near the body. High concentrations of blood alcohol are frequently found but not mandatory. In all cases, ruling out homicide is a major concern.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder caused by the expansion of 55-200 CGG repeats in the 5' UTR of FMR1. These expanded CGG repeats are transcribed and accumulate in nuclear RNA aggregates that sequester one or more RNA-binding proteins, thus impairing their functions. Here, we have identified that the double-stranded RNA-binding protein DGCR8 binds to expanded CGG repeats, resulting in the partial sequestration of DGCR8 and its partner, DROSHA, within CGG RNA aggregates. Consequently, the processing of microRNAs (miRNAs) is reduced, resulting in decreased levels of mature miRNAs in neuronal cells expressing expanded CGG repeats and in brain tissue from patients with FXTAS. Finally, overexpression of DGCR8 rescues the neuronal cell death induced by expression of expanded CGG repeats. These results support a model in which a human neurodegenerative disease originates from the alteration, in trans, of the miRNA-processing machinery., (Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.)