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In the Rhône Valley's Middle Neolithic gathering site of Saint-Paul-Trois-Châteaux (France), the positioning of two females within a structure aligned with the solstices is atypical. Their placement (back and prone) under the overhang of a silo in front of a third in a central position suggests a ritualized form of homicidal ligature strangulation. The first occurrence dates back to the Mesolithic, and it is from the Early Neolithic of Central Europe that the practice expands, becoming a sacrificial rite associated with an agricultural context in the Middle Neolithic. Examining 20 cases from 14 sites spanning nearly two millennia from Eastern Europe to Catalonia reveals the evolution of this ritual murder practice. [ABSTRACT FROM AUTHOR]

The diagnosis of drowning is one of the most difficult tasks in forensic medicine. The diatom test is a complementary analysis method that may help the forensic pathologist in the diagnosis of drowning and the localization of the drowning site. This test consists in detecting or identifying diatoms, unicellular algae, in tissue and water samples. In order to observe diatoms under light microscopy, those samples may be digested by enzymes such as proteinase K. However, this digestion method may leave high amounts of debris, leading thus to a difficult detection and identification of diatoms. To the best of our knowledge, no model is proved to detect and identify accurately diatom species observed in highly complex backgrounds under light microscopy. Therefore, a novel method of model development for diatom detection and identification in a forensic context, based on sequential transfer learning of object detection models, is proposed in this article. The best resulting models are able to detect and identify up to 50 species of forensically relevant diatoms with an average precision and an average recall ranging from 0.7 to 1 depending on the concerned species. The models were developed by sequential transfer learning and globally outperformed those developed by traditional transfer learning. The best model of diatom species identification is expected to be used in routine at the Medicolegal Institute of Paris. [ABSTRACT FROM AUTHOR]

This case study presents the results of the recovery and analysis of three sets of disarticulated and incomplete human remains found in Ecuador, within the Amazonian jungle. Recovered body parts sustained extensive sharp force trauma situated on different aspect of the skeleton. The anthropological examination (bone reassembly, biological profile) was followed by a detailed analysis of cut marks, including a basic experimental study on pig bones to demonstrate that dismemberment may have occurred within a certain amount of time after death. Despite the location (deep into the Amazonian jungle) and the perpetrator’s actions (dismemberment and dispersion of body parts in a river), forensic work both on the field and in laboratory allowed identification of the victims and the reconstruction of the sequence of events. [ABSTRACT FROM AUTHOR]

Forensic medicine is a thriving application field for artificial intelligence (AI). Indeed, AI applications intended to forensic pathologists or forensic physicians have emerged since the last decade. For example, AI models were developed to help estimate the biological age of migrants or human remains. However, the uses of AI applications by forensic pathologists or physicians and their levels of integration in medicolegal practices are not well described yet. Therefore, a scoping review was conducted on PubMed, ScienceDirect, and Scopus databases. This review included articles that mention any AI application used by forensic pathologists or physicians in practice or any AI model applied in one expertise field of the forensic pathologist or physician. Articles in other languages than English or French or dealing mainly with complementary analyses handled by experts who are not forensic pathologists or physicians or with AI to analyze data for research purposes in forensic medicine were excluded from this review. All the relevant information was retrieved in each article from a grid analysis derived and adapted from the TRIPOD checklist. This review included 35 articles and revealed that AI applications are developed in thanatology and in clinical forensic medicine. However, those applications seem to mainly remain in research and development stages. Indeed, the use of AI applications by forensic pathologists or physicians is not actual due to issues discussed in this article. Finally, the integration of AI in daily medicolegal practice involves not only forensic pathologists or physicians but also legal professionals. [ABSTRACT FROM AUTHOR]

Age estimation is a key factor for identification procedure in forensic context. Based on anthropological findings, degenerative changes of the sternal extremity of the 4th rib are currently used for age estimation. These have been adapted to post-mortem computed tomography (PMCT). The aim of this study was to validate a post-mortem computed tomography method based on a revision of the Iscan's method on a French sample. A total of 250 PMCT (aged from 18–98 years (IQR 36–68 years, median 51 years); 68 (27%) females) from the Medicolegal Institute of Paris (MLIP) were analyzed by two radiologists. The sternal extremity of 4th right rib was scored using method adapted from Iscan et al. Weighted κ was used to evaluate intra- and inter-observer reliability and Spearman correlation was performed to evaluate relationship between age and score. Confidence intervals for individual prediction of age based on 4th rib score and sex were computed with bootstrapping. The intra-observer reliability and inter-observer reliability were almost perfect (weighted κ = 0.85 [95%CI: 0.78–0.93] and 0.82 [95%CI 0.70–0.96] respectively). We confirmed a high correlation between the 4th rib score and subject age (rho = 0.72, p < 0.001), although the confidence intervals for individual age prediction were large, spanning over several decades. This study confirms the high reliability of Iscan method applied to PMCT for age estimation, although future multimodal age prediction techniques may help reducing the span of confidence intervals for individual age estimation. Trial registration: INDS 0,509,211,020, October 2020, retrospectively registered. [ABSTRACT FROM AUTHOR]

The European Council of Legal Medicine (ECLM) is the body established in 1992 to represent practitioners forensic & legal medicine and is composed of delegates of the countries of the European Union (EU) and from other countries which form part of Europe to a current total of 34 member countries. The aims of this study were to determine the current status of undergraduate forensic & legal medicine teaching in the curriculum of medical studies in ECLM countries and to use the results of this study to determine whether it would be appropriate to develop new guidelines and standards for harmonising the content of undergraduate forensic medicine training across ECLM member countries. A detailed questionnaire was sent to all individuals or organisations listed on the ECLM contact database. Responses were received from 21 of 33 countries on the database. These responses showed considerable emphasis on undergraduate teaching of forensic medicine in all countries with the exception of Belgium and the United Kingdom. There was great general consistency in the subjects taught. The data from this survey provide a baseline which should assist in developing a strategy to harmonise forensic & legal medicine undergraduate training in member countries of the ECLM. The ECLM is now in a good position to establish a pan-European working group to coordinate a consensus document identifying an appropriate and modern core undergraduate forensic medicine curriculum that can be presented to the medical education authorities in each country, and which can be adapted for local requirements, based on available personnel, the forensic medicine structure in the country, and most importantly, the needs of the local population. [ABSTRACT FROM AUTHOR]

High-resolution melting (HRM) analysis is a recently developed molecular technique proved to be applicable for detection of genetic variation, notably in sudden cardiac death. In certain circumstances, especially in postmortem genetic investigations, the formalin-fixed and paraffin-embedded (FFPE) tissues are the only DNA source available. The present study aimed to develop HRM assays, optimized for the analysis of FFPE tissues, to detect sequence variations in KCNQ1 exons in a prospective population-based series of postmortem negative sudden death and to compare the results between the paired freshly frozen and FFPE tissue samples simultaneously obtained from the same case. The analyses were conducted in each case of sudden death involving cases younger than 35 years with no significant morphological anomalies particularly with no cardiac structural disease and with negatives toxicological investigations. HRM analysis was successfully optimized for 13 of the 16 exons of the KCNQ1 gene. All mutated samples were correctly identified by HRM whatever the type of tissue tested. However, for FFPE samples, HRM indicated more positive samples than classical sequencing, used in parallel, due to the degradation of DNA by formalin fixation. This is the first postmortem study of KCNQ1 mutation detection with HRM on DNA extracted from FFPE samples with adapted protocol. Despite the false-positive detection, we concluded that the use of HRM as a screening method with FFPE samples to analyze KCNQ1 mutations can reduce the number of sequencing reactions and, thus, results in substantial time and cost savings. [ABSTRACT FROM AUTHOR]

Abstract: We report an alleged case of sexual assault in which an anti-wrinkle cream could have been used as a lubricant. Three anorectal samples taken from the victim were given to us in an attempt to document the presence of remains of the cream involved. After examining the composition of the cream, octocrylene (OCT) was selected as the most relevant marker for this analysis. An ultra-performance liquid chromatography–tandem mass spectrometry (UPLC–MS/MS) method was developed for identification of OCT. Anorectal samples were diluted with methanol and injected onto an Acquity BEH C18 column using a gradient mode with 0.1% formic acid/acetonitrile as the mobile phase. Data were acquired using positive electrospray ionization and multiple reaction monitoring. Three transitions were selected for OCT (m/z 362.2>250.0, m/z 362.2>232.0 and m/z 362.2>204.0). The analysis of the cream seized at the offender''s home confirmed the presence of OCT as an ingredient, and the analysis of extracts from the anorectal samples also allowed the formal identification of OCT. These results strongly suggest that a cosmetic containing octocrylene as an ingredient has in fact been applied to the anus of the alleged victim. [Copyright &y& Elsevier]

Abstract: We report an alleged case of sexual assault in which an anti-wrinkle cream could have been used as a lubricant. Three anorectal samples taken from the victim were given to us in an attempt to document the presence of remains of the cream involved. After examining the composition of the cream, octocrylene (OCT) was selected as the most relevant marker for this analysis. An ultra-performance liquid chromatography–tandem mass spectrometry (UPLC–MS/MS) method was developed for identification of OCT. Anorectal samples were diluted with methanol and injected onto an Acquity BEH C18 column using a gradient mode with 0.1% formic acid/acetonitrile as the mobile phase. Data were acquired using positive electrospray ionization and multiple reaction monitoring. Three transitions were selected for OCT (m/z 362.2>250.0, m/z 362.2>232.0 and m/z 362.2>204.0). The analysis of the cream seized at the offender''s home confirmed the presence of OCT as an ingredient, and the analysis of extracts from the anorectal samples also allowed the formal identification of OCT. These results strongly suggest that a cosmetic containing octocrylene as an ingredient has in fact been applied to the anus of the alleged victim. [Copyright &y& Elsevier]

Abstract: Objective:: Since the 1960s, glucocorticoids are used by athletes to improve their performances. Their use is restricted in sports. Hair can document chronic abuse and can be therefore a complementary matrix for doping control. We have developed a new extraction, purification, and separation technique using liquid chromatography and mass spectrometry for the identification and quantification of two endogenous glucocorticoids: cortisol and cortisone. Methods:: Qualitative and quantitative investigations were achieved with 44 hair samples (17 males, 27 females; age ranging from 2 to 90 years). Hair strands were washed in methylene chloride, the first two centimeters of the strand were cut and pulverized in a ball mill. The powdered hair was incubated in 2 mL Soerensen buffer, pH 7.6, for 16 h at 40°C, in the presence of cortisol-d3 as an internal standard. Purification of the incubation medium was achieved on SPE C18 Isolute extraction columns followed by an alkaline liquid–liquid extraction with diethylether. The eluate was evaporated to dryness and resuspended in 25 μL of acetonitrile/ammonium formiate (1:1,v/v). The chromatography was operated on a LC Packings Superba Nucleosil C18 column using a linear gradient of acetonitrile from 30% to 70% in 10 min. The detector was a Perkin Elmer Sciex API 100 mass spectrometer. The detector''s response was linear for cortisol and cortisone concentrations ranging from 1 to 500 pg/mg. Extraction recovery at 50 pg/mg was 74% for cortisol and 32% for cortisone. Repeatability (CV values n = 8) at 7 pg/mg cortisol and at 50 pg/mg cortisone were 11% in both cases. Limit of detection and limit of quantification were 1 and 5 pg/mg, for both compounds, respectively. Results:: Cortisol concentrations in hair ranged from 5 to 91 pg/mg (mean 18 pg/mg). Cortisone concentrations in hair ranged from 12 to 163 pg/mg (mean 70 pg/mg). No influence of hair colour could be found. Influence of sex on cortisone concentrations seems possible but could not be statistically demonstrated. Finally, cortisone concentrations in hair are significantly higher before the age of 20. Incorporation of cortisol and cortisone in hair could follow a passive diffusion through sweat after conversion of part of cortisol to cortisone by Type 2 11-β-Hydroxysteroid-dehydrogenase in sweat glands. This issue was documented by these analyses. [Copyright &y& Elsevier]

The purported enhancement of sexuality, coupled with a possible abrupt coma-inducing effect and ease of administration in spiked drinks have resulted in the use of hypnotics to facilitated a sex offence. Among these compounds, zolpidem possesses amnesic properties, is short-acting and can rapidly impair an individual. In order to document zolpidem exposure, we have developed an original analytical method in oral fluid. 500μl of oral fluid was added to 500μl pH 7.6 Soerensen buffer was extracted by 2ml dichloromethane in presence of 5ng diazepam-d5, used as internal standard. An aliquot of the extract was injected into a 5μm Novapak C18 column (150mm × 2.1mm). Reversed-phase separation was achieved in 6min, under isocratic conditions (90% acetonitrile, 10% 2mM ammonium formate pH 3.6) at a flow rate of 150μl/min. Detection was achieved by tandem mass spectrometry. Molecular ions (m/z 308 and 290 for zolpidem and the IS, respectively) were selected in Q1 and the corresponding daughter ions (m/z 235 and 263 for zolpidem and m/z 154 and 198 for the IS) were detected in Q3 after collision with argon. Linearity was observed for zolpidem concentrations ranging from 0.2 to 100ng/ml, and the assay was capable of detecting 0.05ng/ml. Oral fluid was collected for 480min after oral zolpidem administration of 10mg to 2 subjects. In both cases, zolpidem was detectable (0.4ng/ml) after 15min intake. Peak zolpidem concentrations were obtained at 150min (53.5ng/ml) and 180min (75.7ng/ml), respectively. Oral fluid tested positive for zolpidem for over 8h (9–15ng/ml). [Copyright &y& Elsevier]

Gamma-hydroxybutyric acid (GHB) is a substance naturally present within mammal species. Properties of a neurotransmitter or neuromodulator are generally suggested for this substance. GHB is therapeutically used as an anaesthetic, but can be used for criminal offences (date-rape drug). It appears that the window of detection of GHB is very short in both blood and urine, and therefore its presence is very difficult to prove after a rape case. Twenty μl of blood or urine were pipetted into a glass tube, followed by 20 μl GHB-d6 and 45 μl acetonitrile. After vortexing and efficient centrifugation, the supernatant was collected and evaporated to dryness. The residue was derivatized with BSTFA+1% TMCS for 20 min at 70 °C. After injection on a 30-m HP5 MS capillary column, GHB (m/z 233, 204 and 147) and GHB-d6 (m/z 239) were identified by mass spectrometry. The procedure was linear from 1 to 200 mg/l for both blood and urine. Precisions were in the range 4 to 11%. The method appears simple, specific and rapid as an accurate result can be obtained within 1 h. [Copyright &y& Elsevier]

In an effort to characterize the people who composed the groups known as the Xiongnu, nuclear and whole mitochondrial DNA data were generated from the skeletal remains of 52 individuals excavated from the Tamir Ulaan Khoshuu (TUK) cemetery in Central Mongolia. This burial site, attributed to the Xiongnu period, was used from the first century BC to the first century AD. Kinship analyses were conducted using autosomal and Y-chromosomal DNA markers along with complete sequences of the mitochondrial genome. These analyses suggested close kin relationships between many individuals. Nineteen such individuals composed a large family spanning five generations. Within this family, we determined that a woman was of especially high status; this is a novel insight into the structure and hierarchy of societies from the Xiongnu period. Moreover, our findings confirmed that the Xiongnu had a strongly admixed mitochondrial and Y-chromosome gene pools and revealed a significant western component in the Xiongnu group studied. Using a fine-scale approach (haplotype instead of haplogroup-level information), we propose Scytho-Siberians as ancestors of the Xiongnu and Huns as their descendants. [ABSTRACT FROM AUTHOR]

The likelihood ratio (LR) method is commonly used to determine kinship in civil, criminal, or forensic cases. For the past 15 years, our research group has also applied LR to ancient STR data and obtained kinship results for collections of graves or necropolises. Although we were able to reconstruct large genealogies, some pairs of individuals showed ambiguous results. Second-degree relationships, half-sibling pairs for example, were often inconsistent with detected first-degree relationships, such as parent/child or brother/sister pairs. We therefore set about providing empirical estimations of the error rates for the LR method in living populations with STR allelic diversities comparable to that of the ancient populations we had previously studied. We collected biological samples in the field in North-Eastern Siberia and West Africa and studied more than 800 pairs of STR profiles from individuals with known relationships. Because commercial STR panels were constructed for specific regions (namely Europe and North America), their allelic makeup showed a significant deficit in diversity when compared to European populations, replicating a situation often faced in ancient DNA studies. We assessed the capacity of the LR method to confirm known relationships (effectiveness) and its capacity to detect those relationships (reliability). Concerns over the effectiveness of LR determinations are mostly an issue in forensic studies, while the reliability of the detection of kinship is an issue for the study of necropolises or other large gatherings of unidentified individuals, such as disaster victims or mass graves. We show that the application of LR to both test populations highlights specific issues (both false positives and false negatives) that prevent the confirmation of second-degree kinship or even full siblingship in small populations. Up to 29% of detected full sibling relationships were either overestimated half-sibling relationships or underestimated parent-offspring relationships. The error rate for detected half-sibling relationships was even higher, reaching 41%. Only parent-offspring pairs were reliably detected or confirmed. This implies that, in populations that are small, ill-defined, or for which the STR loci analyzed are inappropriate, an examiner might not be able to distinguish a pair of full siblings from a pair of half-siblings. Furthermore, half-sibling pairs might be overlooked altogether, an issue that is exacerbated by the common confusion, in many languages and cultures, between half-siblings and full siblings. Consequently, in the study of ancient populations, human remains of unknown origins, or poorly surveyed modern populations, we recommend a conservative approach to kinship determined by LR. Next-generation sequencing data should be used when possible, but the costs and technology involved might be prohibitive. Therefore, in potentially contentious situations or cases lacking sufficient external information, uniparental markers should be analyzed: ideally, complete mitochondrial genomes and Y-chromosome haplotypes (STR, SNP, and/or sequencing). [ABSTRACT FROM AUTHOR]

Investigates homicide by manual occipitoatlantal (OA) dislocation. Prevalence of malicious OA dislocation; Circumstances that is used as basis by coroners to establish OA dislocation with homicidal origin; Method used in performing postmortem examination when injury to the cranio-cervical junction is suspected.

Aim: Coronary artery disease (CAD) has recently been emphasized as a major cause of sudden cardiac arrest (SCA) in young adults. We aim to assess the rate of immediate coronary angiography performance in young patients resuscitated from SCA.Methods: From May 2011 to May 2017, all cases of out-of-hospital SCA aged 18-40 years alive at hospital admission were prospectively included in 48 hospitals of the Great Paris area. Cardiovascular causes of SCA were centrally adjudicated, and management including immediate coronary angiography performance was assessed.Results: Out of 3579 SCA admitted alive, 409 (11.4%) patients were under 40 years of age (32.3 ± 6.2 years, 69.7% males), with 244 patients having a definite cause identified. Among those, CAD accounted for 72 (29.5%) cases, of which 64 (88.9%) were acute coronary syndromes. The rate of immediate coronary angiography was only 41.7% compared to 65.1% among those ≥40-years (P < 0.001). During the study period, while the rate of immediate coronary angiography increased from 60.5% to 70.3% (P < 0.001) in patients aged ≥40 years, the rate in patients aged less than 40 years remained stable (43.5% to 45.3%, P = 0.795). Patients younger than 40 years were significantly less likely to undergo immediate coronary angiography (OR = 0.34, 95% CI: 0.25-0.47), although early angiography was associated with survival at hospital discharge (OR = 2.68, 95% CI: 1.21-6.00).Conclusion: CAD is the first cause of SCA in young adults aged less than 40 years. The observed low rates of immediate coronary angiography suggest a missed opportunity for early intervention. [ABSTRACT FROM AUTHOR]

Purpose: The majority of terrorist acts are carried out by explosion or shooting. The objective of this study was first, to describe the management implemented to treat a large number of casualties and their flow together with the injuries observed, and second, to compare these resources according to the mechanism of trauma.Methods: This retrospective cohort study collected medical data from all casualties of the attacks on November 13th 2015 in Paris, France, with physical injuries, who arrived alive at any hospital within the first 24 h after the events. Casualties were divided into two groups: explosion injuries and gunshot wounds.Results: 337 casualties were admitted to hospital, 286 (85%) from gunshot wounds and 51 (15%) from explosions. Gunshot casualties had more severe injuries and required more in-hospital resources than explosion casualties. Emergency surgery was required in 181 (54%) casualties and was more frequent for gunshot wounds than explosion injuries (57% vs. 35%, p < 0·01). The types of main surgery needed and their delay following hospital admission were as follows: orthopedic [n = 107 (57%); median 744 min]; general [n = 27 (15%); 90 min]; vascular [n = 19 (10%); median 53 min]; thoracic [n = 19 (10%); 646 min]; and neurosurgery [n = 4 (2%); 198 min].Conclusion: The resources required to deal with a terrorist attack vary according to the mechanism of trauma. Our study provides a template to estimate the proportion of various types of surgical resources needed overall, as well as their time frame in a terrorist multisite and multitype attack.Funding: Assistance Publique-Hôpitaux de Paris. [ABSTRACT FROM AUTHOR]

Scythians are known from written sources as horse-riding nomadic peoples who dominated the Eurasian steppe throughout the Iron Age. However, their origins and the exact nature of their social organization remain debated. Three hypotheses prevail regarding their origins that can be summarized as a "western origin", an "eastern origin" and a "multi-regional origin". In this work, we first aimed to address the question of the familial and social organization of some Scythian groups (Scytho-Siberians) by testing genetic kinship and, second, to add new elements on their origins through phylogeographical analyses. Twenty-eight Scythian individuals from 5 archeological sites in the Tuva Republic (Russia) were analyzed using autosomal Short Tandem Repeats (STR), Y-STR and Y-SNP typing as well as whole mitochondrial (mtDNA) genome sequencing. Familial relationships were assessed using the Likelihood Ratio (LR) method. Thirteen of the 28 individuals tested were linked by first-degree relationships. When related, the individuals were buried together, except for one adult woman, buried separately from her mother and young sister. Y-chromosome analysis revealed a burial pattern linked to paternal lineages, with men bearing closely related Y-haplotypes buried on the same sites. Inversely, various mtDNA lineages can be found on each site. Y-chromosomal and mtDNA haplogroups were almost equally distributed between Western and Eastern Eurasian haplogroups. These results suggest that Siberian Scythians were organized in patrilocal and patrilineal societies with burial practices linked to both kinship and paternal lineages. It also appears that the group analyzed shared a greater genetic link with Asian populations than Western Scythians did. [ABSTRACT FROM AUTHOR]

In cases of terrorist bomb attacks, the issue of victim identification is the principal aim. For investigators and justice, terrorists must also be identified in a timely manner. The fragmentation of bodies caused by explosive devices however makes this operation difficult. The cases presented correspond to six autopsies of perpetrators carrying explosives. Their explosive belts produced different body sections on areas correlated with the location on the body of carrying explosive charges. Indeed, cross-sectional areas are the signature of the level of explosive devices on the body, and some fracture features through the damage of certain areas of constitutional weaknesses are specific elements to consider. These elements can allow a quick distinction between victims and terrorists, in order to assist in the medico-legal process of identification. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: This work focuses on the populations of South Siberia during the Eneolithic and Bronze Age and specifically on the contribution of uniparental lineage and phenotypical data to the question of the genetic affinities and discontinuities between western and eastern populations. Materials and Methods: We performed molecular analyses on the remains of 28 ancient humans (10 Afanasievo (3600–2500 BC) and 18 Okunevo (2500–1800 BC) individuals). For each sample, two uniparentally inherited systems (mitochondrial DNA and Y‐chromosome DNA) were studied, in order to trace back maternal and paternal lineages. Phenotype‐informative SNPs (Single Nucleotide Polymorphisms) were also analyzed, along with autosomal STRs (Short Tandem Repeats). Results: Most of the Afanasievo men submitted to analysis belonged to a single sub‐haplogroup, R1b1a1a, which reveals the predominance of this haplogroup in these early Bronze Age populations. Conversely, Okunevo individuals carried more diverse paternal lineages that mostly belonged to Asian/Siberian haplogroups. These differences are also apparent, although less strongly, in mitochondrial lineage composition and phenotype marker variant frequencies. Discussion: This study provides new elements that contribute to our understanding of the genetic interactions between populations in Eneolithic and Bronze Age southern Siberia. Our results support the hypothesis of a genetic link between Afanasievo and Yamnaya (in western Eurasia), as suggested by previous studies of other markers. However, we found no Y‐chromosome lineage evidence of a possible Afanasievo migration to the Tarim Basin. Moreover, the presence of Y‐haplogroup Q in Okunevo individuals links them to Native American populations, as was suggested by whole‐genome sequencing. [ABSTRACT FROM AUTHOR]

A palaeogenetic analysis has been undertaken on the pre-Hispanic settlement of Los Amarillos (Regional Development Period, Jujuy Province, Argentina) to reconstruct kin relationship between individuals buried in two domestic areas. The aim of this study was first to genetically characterize the relationships between the individuals buried within the same funerary structure and, secondly, to correlate these genetic data with archaeo-anthropological data to discuss the burial practices and social organization of the Los Amarillos community. An analysis of both uniparental (mtDNA and Y-chromosome) and biparental (autosomal STRs) genetic markers was conducted on eighteen individuals recovered from three different burial structures. The very good DNA preservation contributed to characterize 13 mitochondrial haplotypes, 5 Y-chromosomal haplotypes and 11 complete autosomal STR profiles. The kinship analysis revealed that the domestic areas were used as family graves. Furthermore, they reveal that a maternal lineage is shared by a majority of the studied individuals from different sectors, suggesting matrilocal practices. [ABSTRACT FROM AUTHOR]

The diagenesis of a bone in the postmortem period causes an identifiable deterioration in histology. This degradation is characterized by a collagenous alteration, which can be observed very early. In order to develop a method for determining a postmortem interval for medico-legal use, two ribs collected from six human bodies were studied prospectively over 2 years. Each bone was studied after staining with Sirius red to demonstrate the degradation of collagen as a function of time. This study demonstrated a time-based bone alteration characterized by the architectural degradation of the lamellar bone, without any microbial influence in this postmortem period. The staining was carried out by using Sirius red and correlated this alteration with a collagenic degradation by chemical hydrolysis owing to the affinity of this dye to the amino acids lysine, hydroxylysine, and arginine. Our work asserts that human bone samples that were studied in a controlled environment and analyzed for 24 months underwent a diagenetic trajectory whose main element was collagen hydrolysis. [ABSTRACT FROM AUTHOR]

The author comments on the lessons learned by the French medical emergency services after the terrorist attacks in Nice and Paris, France. The topics discussed include the need for countries to prepare and to adapt emergency plans in facing multifaceted threats, the measures carried out by the French government to improve its medical capacity in facing the unexpected threats, and an overview of the history of terrorist attacks in the country.

This paper describes a new approach to determine characteristics of the implement used to inflict trauma which involves the histological analysis of exogenous particles. Based on Locard's principle 'every contact leaves a trace,' we decided to assess whether histological examination of bone and soft tissue around a penetrating injury (sharp force trauma) could provide evidence of the offending implement. Case reports and experimental studies have demonstrated the potential of cut mark features in bone to identify the causative implement and potentially assist in identifying the perpetrator. Scanning electron microscopy in combination with energy-dispersive X-ray spectrometry (SEM/EDS) have previously been reported to identify exogenous particles from various implements. In medical research, histological techniques are used to study the impact of foreign particles in tissues originating from implants. However, the routine use of histology in forensic medicine focuses on understanding type and timing of injuries. Based on three forensic cases, the results presented in this paper demonstrate that histology offers a cost-efficient and reliable means to detect foreign particles related to offending implement and/or to the environment where the victim was located. The interpretation of histological results was performed in conjunction with the macroscopic autopsy findings and anthropological analysis of bone samples. [ABSTRACT FROM AUTHOR]

This study is part of an ongoing project aiming at determining the ethnogenesis of an eastern Siberian ethnic group, the Yakuts, on the basis of archaeological excavations carried out over a period of 10 years in three regions of Yakutia: Central Yakutia, the Vilyuy River basin and the Verkhoyansk area. In this study, genetic analyses were carried out on skeletal remains from 130 individuals of unknown ancestry dated mainly from the fifteenth to the nineteenth century AD. Kinship studies were conducted using sets of commercially available autosomal and Y-chromosomal short tandem repeats (STRs) along with hypervariable region I sequences of the mitochondrial DNA. An unexpected and intriguing finding of this work was that the uniparental marker systems did not always corroborate results from autosomal DNA analyses; in some cases, false-positive relationships were observed. These discrepancies revealed that 15 autosomal STR loci are not sufficient to discriminate between first degree relatives and more distantly related individuals in our ancient Yakut sample. The Y-STR analyses led to similar conclusions, because the current Y-STR panels provided the limited resolution of the paternal lineages. [ABSTRACT FROM AUTHOR]

This palaeogenetic study focused on the analysis of a late prehispanic Argentinean group from the Humahuaca valley, with the main aim of reconstructing its (micro)evolutionary history. The Humahuaca valley, a natural passageway from the eastern plains to the highlands, was the living environment of Andean societies whose cultural but especially biological diversity is still poorly understood. We analyzed the DNA extracted from 39 individuals who populated this upper valley during the Regional Development period (RDP) (between the 11th and 15th centuries CE), to determine their maternal and paternal genetic ancestry. Some mitochondrial and Y-chromosomal haplotypes specific to the Andean region are consistent with an origin in the highlands of Central Andes. On the other hand, a significant genetic affinity with contemporary admixed communities of the Chaco area was detected. Expectedly, recent demographic events, such as the expansion of the Inca Empire or the European colonization, have changed the original mitochondrial gene pool of the ancient Humahuaca Valley community. Finally, we identified a particular geographical organization of the prehispanic populations of Northwestern Argentina. Our results suggest that the communities of the region were divided between two different spheres of interaction, which is consistent with assumptions made by means of craniometric traits. [ABSTRACT FROM AUTHOR]

Tuberculosis is one of most ancient diseases affecting human populations. Although numerous studies have tried to detect pathogenic DNA in ancient skeletons, the successful identification of ancient tuberculosis strains remains rare. Here, we describe a study of 140 ancient subjects inhumed in Yakutia (Eastern Siberia) during a tuberculosis outbreak, dating from the 16th–19th century. For a long time, Yakut populations had remained isolated from European populations, and it was not until the beginning of the 17th century that first contacts were made with European settlers. Subsequently, tuberculosis spread throughout Yakutia, and the evolution of tuberculosis frequencies can be tracked until the 19th century. This study took a multidisciplinary approach, examining historical and paleo-epidemiological data to understand the impact of tuberculosis on ancient Yakut population. In addition, molecular identification of the ancient tuberculosis strain was realized to elucidate the natural history and host-pathogen co-evolution of human tuberculosis that was present in this population. This was achieved by the molecular detection of the IS6110 sequence and SNP genotyping by the SNaPshot technique. Results demonstrated that the strain belongs to cluster PGG2-SCG-5, evocating a European origin. Our study suggests that the Yakut population may have been shaped by selection pressures, exerted by several illnesses, including tuberculosis, over several centuries. This confirms the validity and necessity of using a multidisciplinary approach to understand the natural history of Mycobacterium tuberculosis infection and disease. [ABSTRACT FROM AUTHOR]

Simple Summary: We want to study (i) how tobacco and tea spread in a population with no previous contact with these substances and (ii) what factors influenced their diffusions. We measured the rates of theobromine, theophylline, caffeine, nicotine, and cotinine in hair samples from 47 frozen bodies from eastern Siberia which date from the contact with Europeans to the assimilation of people into Russian society (end of 19th century). We compared our results with archaeological and historical data. The factors that influenced the spread of smoking could be family factors, the proximity of sale outlets, and fashion. Long before tobacco, herbal teas existed, and the generalization of tea seems to have happened in the 19th century under pressure from economic circuits and tea ceremonies diffused by the elites, even though the habit of herbal tea drinking certainly persisted. Some epidemiological characteristics of present-day Yakutia could find their origins in the 18th and 19th-century diffusion phenomena. (1) Background: The way tobacco and tea spread among virgin populations is of major interest our understanding of how ancient economic and cultural practices could have influenced current habits. (2) Methods: hair concentrations of theobromine, theophylline, caffeine, nicotine, and cotinine were measured in hair samples from 47 frozen bodies of people from eastern Siberia, dated from the contact with Europeans to the assimilation of people into Russian society. (3) Results: hair concentration of theobromine, theophylline, and caffeine vary with the type of beverage consumed: green, black, or local herbal teas. Shortly after the first contacts, a few heavy consumers of tobacco were found among light or passive consumers. Tobacco-related co-morbidities began to be recorded one century after and heavy tea users were only found from the 19th century (4) Conclusions: Economic factors and social and family contacts seem to have played a decisive role in tobacco consumption very early on. Behavioral evolution governed the process of substance integration into Siberian culture and was a determinant for the continuity of its use across long periods of time. Analyzing the respective contributions of social and economic processes in the use of these substances opens avenues of investigation for today's public health. [ABSTRACT FROM AUTHOR]

Understanding the peopling history of Europe is crucial to comprehend the origins of modern populations. Of course, the analysis of current genetic data offers several explanations about human migration patterns which occurred on this continent, but it fails to explain precisely the impact of each demographic event. In this context, direct access to the DNA of ancient specimens allows the overcoming of recent demographic phenomena, which probably highly modified the constitution of the current European gene pool. In recent years, several DNA studies have been successfully conducted from ancient human remains thanks to the improvement of molecular techniques. They have brought new fundamental information on the peopling of Europe and allowed us to refine our understanding of European prehistory. In this review, we will detail all the ancient DNA studies performed to date on ancient European DNA from the Middle Paleolithic to the beginning of the protohistoric period. [ABSTRACT FROM AUTHOR]

Human remains found in aquatic contexts are frequently recovered incomplete and badly decomposed, and therefore present a challenge for medico-legal institutes as their possibilities of analysis for identification and investigation of cause and manner of death are limited. This article aims to demonstrate the potential of forensic examination and analyses (DNA, toxicology, diatoms and entomology) on a set of bones recovered from a river in Strasbourg and the possibility to trigger identification of the victim and circumstances of death despite the state of decomposition and incompleteness of remains. [ABSTRACT FROM AUTHOR]

Context: Key to the evaluation approach of the quality of clerkship training in hospitals is active student involvement. The low response rate in clinical clerkship evaluation forms by medical students at the university of Strasbourg school of medicine restricted the use of the data in view of improving training. It questions student motivation in participating in evaluations. Objectives: In order to improve the reliability of clinical clerkship evaluations, the study focused on identifying the individual characteristics and expectations of students filling the online form from the viewpoint of the self-determination theory and the model of motivational dynamics developed by Viau. Method: A survey was conducted with 223 DCEM3 medical students using an anonymous self-administered questionnaire. Results: The individual characteristics of non-respondents varied depending on the fact that responses came from the latest online form or 2008-2009 questionnaires. In addition, the likelihood of filling the latest online form was five times lower among students holding down a job while the probability of responding to the 2008-2009 form doubled among students participating in internship conferences. Moreover, student commitment in evaluating clinical clerkships was poorly self-determined. Lastly, the study highlighted the low perceived task value and the low control perception among students. Conclusion: The results offer practical suggestions designed to increase medical student motivation in committing to clerkship training evaluation. [ABSTRACT FROM AUTHOR]

Steroid hormone concentrations are mostly determined by using different body fluids as matrices and applying immunoassay techniques. However, usability of these approaches may be restricted for several reasons, including ethical barriers to invasive sampling. Therefore, we developed an ultra-performance LC-MS-MS method for high-throughput determination of concentrations of cortisol, cortisone, dehydroepiandrosterone (DHEA), and DHEA sulfate (DHEAS) in small quantities of human nails. The method was validated for linearity, limits of detection and quantification, recovery, intra and interassay precision, accuracy, and matrix effect. Samples from 10 adult women were analyzed to provide proof-of-principle for the method's applicability. Calibration curves were linear ( r > 0.999) in the ranges 10-5000 pg mg for cortisol, cortisone, and DHEAS, and 50-5000 pg mg for DHEA. Limits of quantification were 10 pg mg for cortisol, cortisone, and DHEAS, and 50 pg mg for DHEA. The sensitivity and specificity of the method were good, and there was no interference with the analytes. Mean recovery of cortisol, cortisone, DHEA, and DHEAS was 90.5%, 94.1%, 84.9%, and 95.9%, respectively, with good precision (coefficient of variation <14% for all analytes) and accuracy (relative error (%) −8.3% to 12.2% for all analytes). The median (pg mg, range) hormone concentrations were 69.5 (36-158), 65 (32-133), 212 (50-1077), and 246 (115-547) for cortisol, cortisone, DHEA, and DHEAS, respectively. This method enables measurement of cortisol, cortisone, DHEA, and DHEAS in small quantities of human nails, leading to the development of applications in endocrinology and beyond. [ABSTRACT FROM AUTHOR]

The impact of the Neolithic dispersal on the western European populations is subject to continuing debate. To trace and date genetic lineages potentially brought during this transition and so understand the origin of the gene pool of current populations, we studied DNA extracted from human remains excavated in a Spanish funeral cave dating from the beginning of the fifth millennium B.C. Thanks to a "multimarkers" approach based on the analysis of mitochondrial and nuclear DNA (autosomes and Y-chromosome), we obtained information on the early Neolithic funeral practices and on the biogeographical origin of the inhumed individuals. No close kinship was detected. Maternal haplogroups found are consistent with pre-Neolithic settlement, whereas the Y-chromosomal analyses permitted confirmation of the existence in Spain approximately 7,000 y ago of two haplogroups previously associated with the Neolithic transition: G2a and E1b1b1a1b. These results are highly consistent with those previously found in Neolithic individuals from French Late Neolithic individuals, indicating a surprising temporal genetic homogeneity in these groups. The high frequency of G2a in Neolithic samples in western Europe could suggest, furthermore, that the role of men during Neolithic dispersal could be greater than currently estimated. [ABSTRACT FROM AUTHOR]

Abstract: Easily accessible biomarkers for fetal stress biology are lacking. We here explore whether quantification of major fetal steroids, dehydroepiandrosterone (DHEA) or DHEA sulfate (DHEAS), with liquid chromatography/tandem mass spectrometry in infant nails is a tool to assess fetal stress biology in response to maternal stressful life events during pregnancy. Sufficient nail (≥1mg) was available from 80 infants (93% of those providing samples). The concentration of DHEA, but not DHEAS, was increased in infants of mothers with stressful life events during pregnancy (DHEA: F 1,41 =6.105, P =0.018; DHEAS: F 1,77 =0.767, P =0.384). DHEA concentrations were not related to maternal stress before pregnancy (F 1,41 =0.010, P =0.922). Infant nail DHEA may be a fetal biological correlate of intrauterine exposure to maternal stress. The method promises the first non-invasive retrospective biomarker for intrauterine stress biology, opening new ways for research and clinical applications in fetal medicine, endocrinology, obstetrics, gynecology, and for understanding the developmental origins of health and disease. [Copyright &y& Elsevier]

Estimation of age at death from human bones in legal medicine or in anthropology and archaeology is hampered by controversial results from the various macroscopic and histological techniques. This study attempted an estimation of age at death by histomorphometric analysis, from the fourth left rib adjacent to the costochondral joint in 80 forensic cases. Use of the picrosirius dye provided a reliable staining of the decalcified paraffin-embedded ribs. The total bone cortical area, the major and minor diameter as well as the area of the Haversian canals, the osteon areas of intact and remodelled secondary osteons, the area of non-Haversian canals were evaluated by means of image analysis, and derived parameters were calculated on both the internal and external sides of the rib. Most of the variables exhibited consistency between three different observers. Noteworthy, morphometric measurements in the internal cortex of the rib showed less variability than in the external cortex. Finally, discriminant statistical analysis from the 80 cases in this study indicated that the osteon population density was virtually sufficient to significantly discriminate between three groups of age: 20-39 (adulthood), 40-59 (middle age) and a group superior to 60. A subsequent blind evaluation of ten new subjects satisfactorily classified seven subjects out of ten within the three age groups. These results make feasible a larger study aimed at characterization of the practical relationships between bone tissue histomorphometry in ribs and chronological age in forensic cases. [ABSTRACT FROM AUTHOR]

Research of ancient pathogens in ancient human skeletons has been mainly carried out on the basis of one essential historical or archaeological observation, permitting specific pathogens to be targeted. Detection of ancient human pathogens without such evidence is more difficult, since the quantity and quality of ancient DNA, as well as the environmental bacteria potentially present in the sample, limit the analyses possible. Using human lung tissue and/or teeth samples from burials in eastern Siberia, dating from the end of 17th to the 19th century, we propose a methodology that includes the: 1) amplification of all 16S rDNA gene sequences present in each sample; 2) identification of all bacterial DNA sequences with a degree of identity ≤95%, according to quality criteria; 3) identification and confirmation of bacterial pathogens by the amplification of the rpoB gene; and 4) establishment of authenticity criteria for ancient DNA. This study demonstrates that from teeth samples originating from ancient human subjects, we can realise: 1) the correct identification of bacterial molecular sequence signatures by quality criteria; 2) the separation of environmental and pathogenic bacterial 16S rDNA sequences; 3) the distribution of bacterial species for each subject and for each burial; and 4) the characterisation of bacteria specific to the permafrost. Moreover, we identified three pathogens in different teeth samples by 16S rDNA sequence amplification: Bordetella sp., Streptococcus pneumoniae and Shigella dysenteriae. We tested for the presence of these pathogens by amplifying the rpoB gene. For the first time, we confirmed sequences from Bordetella pertussis in the lungs of an ancient male Siberian subject, whose grave dated from the end of the 17th century to the early 18th century [ABSTRACT FROM AUTHOR]

The Neolithic is a key period in the history of the European settlement. Although archaeological and present-day genetic data suggest several hypotheses regarding the human migration patterns at this period, validation of these hypotheses with the use of ancient genetic data has been limited. In this context, we studied DNA extracted from 53 individuals buried in a necropolis used by a French local community 5,000 y ago. The relatively good DNA preservation of the samples allowed us to obtain autosomal, Y-chromosomal, and/or mtDNA data for 29 of the 53 samples studied. From these datasets, we established close parental relationships within the necropolis and determined maternal and paternal lineages as well as the absence of an allele associated with lactase persistence, probably carried by Neolithic cultures of central Europe. Our study provides an integrative view of the genetic past in southern France at the end of the Neolithic period. Furthermore, the Y-haplotype lineages characterized and the study of their current repartition in European populations confirm a greater influence of the Mediterranean than the Central European route in the peopling of southern Europe during the Neolithic transition. [ABSTRACT FROM AUTHOR]

Several studies have demonstrated the age-related accumulation of duplications in the D-loop of mitochondrial DNA (mtDNA) extracted from skeletal muscle. This kind of mutation had not yet been studied in bone. The detection of age-related mutations in bone tissue could help to estimate age at death within the context of legal medicine or/and anthropological identification procedures, when traditional osteological markers studied are absent or inefficient. As we detected an accumulation of a point mutation in mtDNA from an older individual's bones in a previous study, we tried here to identify if three reported duplications (150, 190, 260 bp) accumulate in this type of tissue. We developed a sensitive method which consists in the use of back-to-back primers during amplification followed by an electrophoresis capillary analysis. The aim of this study was to confirm that at least one duplication appears systematically in muscle tissue after the age of 20 and to evaluate the duplication age appearance in bones extracted from the same individuals. We found that the number of duplications increase from 38 years and that at least one duplicated fragment is present in 50% of cases after 70 years in this tissue. These results confirm that several age-related mutations can be detected in the D-loop of mtDNA and open the way for the use of molecular markers for age estimation in forensic and/or anthropological identification. [ABSTRACT FROM AUTHOR]

Osseous and dental nonmetric (discrete) traits have long been used to assess population variability and affinity in anthropological and archaeological contexts. However, the full extent to which nonmetric traits can reliably be used as a proxy for genetic data when assessing close or familial relationships is currently poorly understood. This study represents the unique opportunity to directly compare genetic and nonmetric data for the same individuals excavated from the Egyin Gol necropolis, Mongolia. These data were analyzed to consider the general efficacy of nonmetric traits for detecting familial groupings in the absence of available genetic data. The results showed that the Egyin Gol population is quite homogenous both metrically and genetically confirming a previous suggestion that the same people occupied the necropolis throughout the five centuries of its existence. Kinship analysis detected the presence of potential family burials in the necropolis. Moreover, individuals buried in one sector of the necropolis were differentiated from other sectors on the basis of nonmetric data. This separation is likely due to an outside Turkish influence in the paternal line, as indicated by the results of Y-chromosome analysis. Affinity matrices based on nonmetric and genetic data were correlated demonstrating the potential of nonmetric traits for detecting relationships in the absence of genetic data. However, the strengths of the correlations were relatively low, cautioning against the use of nonmetric traits when the resolution of the familial relationships is low. Am J Phys Anthropol 143:355-364, 2010. [ABSTRACT FROM AUTHOR]

Short tandem repeat (STR) typing has become the standard technique in forensic methodology for the identification of unknown samples. National DNA databases have been established that contain STR genotypes for intelligence purposes. Due to their success, national DNA databases have been growing so fast that the number of advantageous matches may become a logistic problem for the analysts. This is especially true for partial STR profiles as they display reduced discrimination power. To overcome this drawback, modified versions (so-called mini-STRs) of existing loci were introduced as well as new loci to improve the information content of (partial) STR profiles. We pursue an alternative approach that makes use of nucleotide variation within the amplified STR fragments, which can be discerned by mass spectrometry. We have developed an assay that determines molecular masses from crude STR amplicons which were purified and separated by a liquid chromatographic system directly hyphenated to an electrospray ionization mass spectrometer. We present here new population data of forensically relevant STRs in Khoisan and Yakut populations. These autochthonous groups were selected as they may harbor additional STR alleles that are rare or unobserved in modern humans from cosmopolitan areas, especially for the Khoisan, which are known to represent a very ancient human population. The analysis of the molecular mass of STRs offered a widened spectrum of allele variability escorted by enhanced forensic use. Thus, established STR data derived from fragment size analysis can still be used in casework or in the context of intelligence databasing. [ABSTRACT FROM AUTHOR]

Ricochet of a bullet in the spinal canal is well known by neurosurgeons but relatively not a common event in usual medico-legal autopsy practice. This article presents a homicide case of a penetrating gunshot injury of the lumbar spine through the T12-L1 intervertebral foramen with active movement of the projectile within the spinal canal to the L5-S1 level. This case illustrates a bullet intradural and intramedullary active movement because of a ricochet of the body of T12 with active redirection of the path. In the current literature, different types of migration in caudal or cranial direction, intradural, or intramedullary are reported. If spontaneous migration of T10 to S1 seems to be more frequent, some authors reported a C1 to S2 migration. Such migration could be asymptomatic or induce neurological impairment. The medico-legal consequences of these migrations within the spinal canal are described. [ABSTRACT FROM AUTHOR]

More than a decade of mitochondrial DNA (mtDNA) studies have given the ‘Polynesian motif’ renowned status as a marker for tracing the late-Holocene expansion of Austronesian speaking populations. Despite considerable research on the Polynesian motif in Oceania, there has been little equivalent work on the western edge of its expansion – leaving major issues unresolved regarding the motif's evolutionary history. This has also led to considerable uncertainty regarding the settlement of Madagascar. In this study, we assess mtDNA variation in 266 individuals from three Malagasy ethnic groups: the Mikea, Vezo, and Merina. Complete mtDNA genome sequencing reveals a new variant of the Polynesian motif in Madagascar; two coding region mutations define a Malagasy-specific sub-branch. This newly defined ‘Malagasy motif’ occurs at high frequency in all three ethnic groups (13–50%), and its phylogenetic position, geographic distribution, and estimated age all support a recent origin, but without conclusively identifying a specific source region. Nevertheless, the haplotype's limited diversity, similar to those of other mtDNA haplogroups found in our Malagasy groups, best supports a small number of initial settlers arriving to Madagascar through the same migratory process. Finally, the discovery of this lineage provides a set of new polymorphic positions to help localize the Austronesian ancestors of the Malagasy, as well as uncover the origin and evolution of the Polynesian motif itself. [ABSTRACT FROM AUTHOR]

Ancient DNA recovered from 21 individuals excavated from burial sites in the Pampa Grande (PG) region (Salta province) of North-Western Argentina (NWA) was analyzed using various genetic markers (mitochondrial DNA, autosomal STRs, and Y chromosomal STRs). The results were compared to ancient and modern DNA from various populations in the Andean and North Argentinean regions, with the aim of establishing their relationships with PG. The mitochondrial haplogroup frequencies described (11% A, 47% B, and 42% D) presented values comparable to those found for the ancient Andean populations from Peru and San Pedro de Atacama. On the other hand, mitochondrial and Y chromosomal haplotypes were specific to PG, as they did not match any other of the South American populations studied. The described genetic diversity indicates homogeneity in the genetic structure of the ancient Andean populations, which was probably facilitated by the intense exchange network in the Aiidean zone, in particular among Tiwanaku, San Pedro de Atacama, and NWA. The discovery of haplotypes unique to PG could be due to a loss of genetic diversity caused by recent events affecting the autochthonous populations (establishment of the Inca Empire in the region, colonization by the Europeans). [ABSTRACT FROM AUTHOR]

Background: The Yakuts contrast strikingly with other populations from Siberia due to their cattle- and horsebreeding economy as well as their Turkic language. On the basis of ethnological and linguistic criteria as well as population genetic studies, it has been assumed that they originated from South Siberian populations. However, many questions regarding the origins of this intriguing population still need to be clarified (e.g. the precise origin of paternal lineages and the admixture rate with indigenous populations). This study attempts to better understand the origins of the Yakuts by performing genetic analyses on 58 mummified frozen bodies dated from the 15th to the 19th century, excavated from Yakutia (Eastern Siberia). Results: High quality data were obtained for the autosomal STRs, Y-chromosomal STRs and SNPs and mtDNA due to exceptional sample preservation. A comparison with the same markers on seven museum specimens excavated 3 to 15 years ago showed significant differences in DNA quantity and quality. Direct access to ancient genetic data from these molecular markers combined with the archaeological evidence, demographical studies and comparisons with 166 contemporary individuals from the same location as the frozen bodies helped us to clarify the microevolution of this intriguing population. Conclusion: We were able to trace the origins of the male lineages to a small group of horse-riders from the Cis- Baïkal area. Furthermore, mtDNA data showed that intermarriages between the first settlers with Evenks women led to the establishment of genetic characteristics during the 15th century that are still observed today. [ABSTRACT FROM AUTHOR]

To help unravel some of the early Eurasian steppe migration movements, we determined the Y-chromosomal and mitochondrial haplotypes and haplogroups of 26 ancient human specimens from the Krasnoyarsk area dated from between the middle of the second millennium BC. to the fourth century AD. In order to go further in the search of the geographic origin and physical traits of these south Siberian specimens, we also typed phenotype-informative single nucleotide polymorphisms. Our autosomal, Y-chromosomal and mitochondrial DNA analyses reveal that whereas few specimens seem to be related matrilineally or patrilineally, nearly all subjects belong to haplogroup R1a1-M17 which is thought to mark the eastward migration of the early Indo-Europeans. Our results also confirm that at the Bronze and Iron Ages, south Siberia was a region of overwhelmingly predominant European settlement, suggesting an eastward migration of Kurgan people across the Russo-Kazakh steppe. Finally, our data indicate that at the Bronze and Iron Age timeframe, south Siberians were blue (or green)-eyed, fair-skinned and light-haired people and that they might have played a role in the early development of the Tarim Basin civilization. To the best of our knowledge, no equivalent molecular analysis has been undertaken so far. [ABSTRACT FROM AUTHOR]

In the present study, a multiplexed genotyping assay for ten single nucleotide polymorphisms (SNPs) located within six pigmentation candidate genes was developed on modern biological samples and applied to DNA retrieved from 25 archeological human remains from southern central Siberia dating from the Bronze and Iron Ages. SNP genotyping was successful for the majority of ancient samples and revealed that most probably had typical European pigment features, i.e., blue or green eye color, light hair color and skin type, and were likely of European individual ancestry. To our knowledge, this study reports for the first time the multiplexed typing of autosomal SNPs on aged and degraded DNA. By providing valuable information on pigment traits of an individual and allowing individual biogeographical ancestry estimation, autosomal SNP typing can improve ancient DNA studies and aid human identification in some forensic casework situations when used to complement conventional molecular markers. [ABSTRACT FROM AUTHOR]

Background: Current models propose that mitochondrial DNA macrohaplogroups M and N evolved from haplogroup L3 soon after modern humans left Africa. Increasingly, however, analysis of isolated populations is filling in the details of, and in some cases challenging, aspects of this general model. Results: Here, we present the first comprehensive study of three such isolated populations from Madagascar: the Mikea hunter-gatherers, the neighbouring Vezo fishermen, and the Merina central highlanders (n = 266). Complete mitochondrial DNA genome sequences reveal several unresolved lineages, and a new, deep branch of the out-of-Africa founder clade M has been identified. This new haplogroup, M23, has a limited global distribution, and is restricted to Madagascar and a limited range of African and Southwest Asian groups. Conclusions: The geographic distribution, phylogenetic placement and molecular age of M23 suggest that the colonization of Madagascar was more complex than previously thought. [ABSTRACT FROM AUTHOR]

Simple Summary: We have studied the dental epidemiology of 96 frozen bodies from north-eastern Siberia (Yakuts) before and after the contact—with an accurate chronology–between Autochthonous and European populations. The peculiarities of the Yakut population are the rarity of cavities and the relative frequency of dental pathologies leading to death. Dental health evolves only two centuries after the contact; assimilation into the Russian Orthodox culture has decreased tooth wear and increased tooth loss. A comparison with historical data suggests that this evolution is not linked to the increasing importance of sucrose, but to the combined action of the substitution of dendrophagia with cereal flour; a decrease in immunity associated with the development of chronic infectious diseases; smoking as well as the mandibular torus: a risk factor favoring apical cysts. (1) Background: contact between indigenous and European populations has often resulted in changes in oral health attributed to the introduction of sucrose. Most studies are per tooth over considerable periods and with few ethnological references. (2) Aim: dental epidemiology of 96 autochthonous frozen bodies from Yakutia between the early 17th century and the late 19th century; comparisons with historical texts and ethnographic data. (3) Material and methods: we use descriptive statistics and discriminant factorial analyses to identify dominant variables in the dataset and compare periods and subjects, considering all variables. (4) Results: the peculiarities of the population are the rarity of cavities and the relative frequency of dental pathologies leading to death. Assimilation into the Russian Orthodox culture has led to decreased tooth wear and an increase in tooth loss. Dental health evolves only two centuries after the contact. (5) Conclusions: the confrontation with historical data suggests that changes are not related to the growing importance of sucrose but to a combined action: the substitution of dendrophagy by cereal flour; the decrease in immunity linked to the development of chronic infectious diseases; tobacco addiction and the mandibular torus: a risk factor promoting apical cysts. [ABSTRACT FROM AUTHOR]

Long QT syndrome is one of the most common hereditary channelopathies inducing fatal arrhythmias and sudden cardiac death. We identified in a sudden arrhythmic death syndrome case a C-term KCNH2 mutation (c.3457C > T; p.His1153Tyr) classified as variant of unknown significance and functional impact. Heterologous expression in HEK293 cells combined with western-blot, flow-cytometry, immunocytochemical and microscope analyses shows no modification of channel trafficking to the cell membrane. Electrophysiological studies reveal that the mutation causes a loss of HERG channel function through an alteration of channel biophysical properties that reduces the current density leading to LQT2. These results provide the first functional evidence for H1153Y-KCNH2 mutation-induced abnormal channel properties. They concur with previous biophysical and clinical presentations of a survived patient with another variant that is G1036D. Therefore, the present report importantly highlights the potential severity of variants that may have useful implications for treatment, surveillance, and follow-up of LQT2 patients. [ABSTRACT FROM AUTHOR]