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Aim: Determine the evolutionary origin of the heretofore poorly characterized contemporary Great White Shark (GWS; Carcharodon carcharias) of the Mediterranean Sea, using phylogenetic and dispersal vicariance analyses to trace back its global palaeo-migration pattern. Location: Mediterranean Sea. Taxon: Carcharodon carcharias. Methods: We have built the largest mitochondrial DNA control region (CR) sequence dataset for the Mediterranean GWS from referenced historical jaws spanning the 19th and 20th centuries. Mediterranean and global GWS CR sequences were analysed for genetic diversity, phylogenetic relationships and divergence time. A Bayes factor approach was used to assess two scenarios of GWS lineage divergence and emergence of the Mediterranean GWS line using fossil records and palaeo-geographical events for calibration of the molecular clock. Results: The results confirmed a closer evolutionary relationship between Mediterranean GWS and populations from Australia–New Zealand and the North-eastern Pacific coast rather than populations from South African and North-western Atlantic. The Mediterranean GWS lineage showed the lowest genetic diversity at the global level, indicating its recent evolutionary origin. An evaluation of various divergence scenarios determined the Mediterranean GWS lineage most likely appeared some 3.23 million years ago by way dispersal/vicariance from Australian/Pacific palaeo-populations. Main conclusion: Based on the fossil records, phylogeographic patterns and divergence time, we revealed that the Mediterranean GWS population originated in the Pliocene following the Messinian Salinity Crisis. Colonization of the Mediterranean by GWS likely occurred via an eastward palaeo-migration of Australian/eastern Pacific elements through the Central American Seaway, before the complete closure of the Isthmus of Panama. This Pliocene origin scenario contrasts with a previously proposed scenario in which Australian GWS colonized the Mediterranean via antipodean northward migration resulting from navigational errors from South Africa during Quaternary climatic oscillations.

Giant cell tumor (GCT) of the bone is a locally aggressive and rarely metastasizing neoplasm. It is composed of neoplastic mononuclear stromal cells with a monotonous appearance admixed with macrophages and osteoclast-like giant cells. In a small subset of cases, GCT is malignant. Terminology previously related to this entity, and which is no longer supported by the World Health Organization, includes osteoclastoma and benign fibrous histiocytoma (BFH). Giant cells occur in numerous other pathologic conditions of the bone, which accounts for the misrepresentation of these non-GCT tumors in the early literature. Non-ossifying fibroma (NOF), aneurysmal bone cyst, and chondroblastoma have been erroneously labeled GCT for this reason. A single description of an ancient GCT was reported by Brothwell and Sandison and subsequently mentioned by Aufderheide and Rodrìguez-Martìn who were astonished that more of these tumors had not been identified in archaeological cases. To the best of our knowledge, no other cases of ancient GCT have been cited in the paleopathology literature. The study of this type of neoplasm in antiquity can be used as a means to better understand its characteristics and behavior and to expand the depth of time of the etiology of these lesions. We report a case of GCT of the left femur observed following the total body CT imaging of a partially mummified adult female, dating to eighteenth century.

Il lupo ha da sempre rappresentato una specie fiera, misteriosa ed elusiva, capace di colpire l’immaginazione dell’uomo fin dall’epoca più remota. Nelle varie culture del mondo ha trovato posto come protagonista importante di fiabe, leggende e miti, suscitando visioni completamente opposte a seconda del contesto, le quali spaziano dalla mistica venerazione fino all’atavica paura, ma sempre caratterizzate da un’interazione complessa con l’uomo. Pochi animali infatti esemplificano il rapporto contrastato tra la società e la natura come il lupo. Dal punto di vista ecologico invece, questa specie riveste un importante ruolo come predatore all’apice della catena alimentare con effetto top-down sull’equilibrio degli ecosistemi. Nonostante questo ruolo fondamentale, in molte realtà sta ancora scontando i retaggi di antichi pregiudizi culturali, che lo figurano come una minaccia per l’uomo ed il resto della fauna, specialmente domestica.

Signatures of positive selection in the genome are a characteristic mark of adaptation that can reveal an ongoing, recent, or ancient response to environmental change throughout the evolution of a population. New sources of food, climate conditions, and exposure to pathogens are only some of the possible sources of selective pressure, and the rise of advantageous genetic variants is a crucial determinant of survival and reproduction. In this context, the ability to detect these signatures of selection may pinpoint genetic variants that are responsible for a significant change in gene regulation, gene expression, or protein synthesis, structure, and function. This review focuses on statistical methods that take advantage of linkage disequilibrium and haplotype determination to reveal signatures of positive selection in whole-genome sequencing data, showing that they emerge from different descriptions of the same underlying event. Moreover, considerations are provided around the application of these statistics to different species, their suitability for ancient DNA, and the usefulness of discovering variants under selection for biomedicine and public health in an evolutionary medicine framework.

Il progetto di studio delle mummie di Roccapelago, nato in seguito al ritrovamento, nella cripta della locale chiesa della Conversione di San Paolo Apostolo, dei resti di oltre 400 individui, molti dei quali parzialmente mummificati, ha previsto, fin dall’inizio, un approccio multidisciplinare volto all'integrazione dei risultati scaturiti dalle indagini archeoantropologiche, paleodemografiche e paleopatologiche con quelli prodotti dalle analisi genetiche dei reperti. A questo scopo è stato programmato, tra l’altro, anche uno studio diacronico del DNA finalizzato a indagare la struttura e le dinamiche della popolazione di Roccapelago nell’arco di circa quattro secoli, cioè dalla fase più antica di uso sepolcrale della cripta fino alla comunità attualmente vivente. La selezione dei campioni oggetto dello studio ha perciò riguardato sia i reperti antichi, risalenti a un periodo compreso tra il XVI e il XVIII secolo, sia membri attuali della comunità locale.

SummaryThe Sicilian wolf represented the only population of wolves living on a Mediterranean island until the first half of the twentieth century (1930s-1960s) 1–7. Previous studies hypothesised that they remained isolated from mainland wolves from the end of the Last Glacial Maximum (LGM) 8,9, until human persecutions led them to extinction 1–7.There are only seven known Sicilian wolf specimens from the 19th and 20th century preserved in museums in Italy and recent morphometric analyses assigned them to the new subspecies Canis lupus cristaldii10. To better understand the origins of the Sicilian wolf, and its relationship to other wolf populations, we sequenced four whole genomes (3.8×-11.6×) and five mitogenomes. We investigated the relationship between Sicilian wolves and other modern breeds to identify potential admixture. Furthermore, considering that the last land-bridge between Sicily and Italy disappeared after the LGM 11, around 17 kya, we explored the possibility that the Sicilian wolf retained ancestry from ancient wolf and dog lineages. Additionally, we explored whether the long-term isolation might have affected the genomic diversity, inbreeding levels and genetic load of the Sicilian wolf.Our findings show that the Sicilian wolves shared most ancestry with the modern Italian wolf population but are better modelled as admixed with European dog breeds, and shared traces of Eneolithic and Bronze age European dogs. We also find signatures of severe inbreeding and low genomic diversity at population and individual levels due to long-term isolation and drift, suggesting also low effective population size.

The Middle Ages represented a crucial period for the evolutionary history of wolves (Canis lupus), marked by both significant ecosystem changes, especially through the degradation of wooded landscapes and heavy persecution, that drove this species to a dramatic demographic decline. In Europe, informative and well-documented wolf remains from the Medieval Ages are exceptionally rare and are mostly represented by teeth and postcranial elements. In this study, we describe a well-preserved wolf cranium dated to ca. 967–1157 AD from the Po Valley (northern Italy). The specimen was analysed through a multidisciplinary approach including CT-based, ancient DNA, and palaeopathological analyses. Morphological and genetic data supported the assignment of this sample to Canis lupus species. CT-based analyses indicated a typical wolf-like morphology falling into the extant variability of the medium-sized subspecies C. lupus italicus, whereas palaeopathological analyses indicated a severe periodontitis. Phylogenetic analyses showed that the Po valley wolf had a unique and never described mtDNA control region haplotype, testifying variability in the ancient Italian wolf, which has now been lost. This study provides the first comprehensive description of a wolf from the Middle Ages, adding useful information for a deeper knowledge about population dynamics, variability, and diseases of this species.

Overexploitation has directly, negatively affected marine fish populations in the past half-century, modifying not only their abundance but their behaviour and life-history traits. The recovery and resilience of such populations is dependent upon their exploitation history, which often extends back millennia. Hence, data on when exploitation intensified and how populations were composed in historical periods, have the potential to reveal long-term population dynamics and provide context on the baselines currently used in fisheries management and conservation. Here, we setup a framework for investigations on the exploitation history of Atlantic bluefin tuna (Thunnus thynnus; BFT) in the eastern Atlantic and Mediterranean by collating records of their zooarchaeological remains and critically reviewing these alongside the literature. Then, we outline how novel multidisciplinary applications on BFT remains may be used to document long-term population dynamics. Our review of literature provides clear evidence of BFT overexploitation during the mid-20th century ce. Furthermore, a strong case could be made that the intensification of BFT exploitation extends back further to at least the 19th century ce, if not the 13th–16th century ce, in the eastern Atlantic and Mediterranean. However, a host of archaeological evidence would suggest that BFT exploitation may have been intensive since antiquity. Altogether, this indicates that by the currently used management baselines of the 1970s, population abundance and complexity was already likely to have declined from historical levels, and we identify how biomolecular and morphometric analyses of BFT remains have the potential to further investigate this.

Besides being involved in respiratory and olfactory functions, the human nose presents the peculiar morphological and functional characteristics that have emerged during the evolution of the face and neural skull. In particular, following the nasalization process, i.e., the formation of the nasal bone bridge and the development of the nasal cartilage, it took the form of a triangular pyramid protruding on the median plane of the face, contributing to defining those physiognomic traits that make the face of each individual unique and unmistakable. This chapter examines the genetic, physiological and climatic factors that are at the origin of the evolution and morphological variability of the nose and face. It also considers the possible selective mechanisms of a cultural and social nature which may lead to the unforeseeable and peculiar combinations of physiognomic traits of the nose and face that are the basis of personal identity and individual recognition. Finally, it looks at the genes involved in the characterization of specific traits of the nose and face and how they are contributing to skull-facial reconstruction.

In recent decades, scientific methodologies have revolutionized the approach to the study of archaeological evidence, helping to extract additional and sometimes unique information from them, for the purpose of reconstructing the past. An important impulse to these investigations was given by the application of the most advanced biological, bio-molecular and chemical-physical techniques to bioarchaeological finds and, in particular to human remains. After a brief review of the scientific methodologies widely used in this field, three case studies from the Modena area are presented: the study about the remains of Pico della Mirandola, the project about the Roccapelago mummies and the case of violent deaths of the necropolis of via Ciro Menotti (Modena).

Le mummie di Roccapelago (MO) rappresentano un eccezionale ritrovamento archeologico, sia perché costituiscono un raro esempio di preservazione naturale dei membri di un'intera comunità montana di umile estrazione, vissuti in un arco temporale di circa due secoli, sia a motivo dell’eccezionale stato di conservazione degli inumati. Lo scavo archeologico nella cripta della Chiesa della Conversione di S. Paolo Apostolo a Roccapelago ha infatti permesso di recuperare i resti di oltre 400 individui, di cui circa 60 almeno parzialmente mummificati. La datazione dei reperti, effettuata sulla base della cultura materiale e dei registri parrocchiali, è stata circoscritta ad un arco temporale compreso tra la fine del XVI e la fine del XVIII secolo. Il processo di mummificazione che ha interessato una parte degli inumati è da attribuire plausibilmente alle peculiari condizioni microclimatiche della cripta, caratterizzate dall’aria secca e dalla particolare ventilazione, assicurata da due piccole finestre aperte sulla vallata. Le analisi preliminari sullo stato di conservazione dei tessuti molli mummificati, condotte mediante Spettroscopia Infrarossa in Trasformata di Fourier (FTIR) e Microscopia Elettronica a Scansione (SEM), hanno evidenziato, in generale, una buona conservazione delle strutture anatomiche e parziali alterazioni dei tessuti, preservati dalle condizioni chimico-fisiche dell’ambiente di deposizione. Le analisi antropologiche e paleopatologiche eseguite sui medesimi reperti hanno rivelato aspetti interessanti relativi alle caratteristiche fisiche e alle condizioni di vita e di salute dell’antica popolazione di Roccapelago, tra cui la notevole longevità di numerosi suoi membri, nonché il parziale isolamento geografico che ha caratterizzato la storia di questa comunità. Le peculiari condizioni di conservazione di una parte delle mummie di Roccapelago hanno infatti permesso di effettuare l’analisi molecolare del microbiota umano, cioè delle comunità di microrganismi presenti in diversi tessuti di individui vissuti tra il XVI e il XVIII secolo.

Il ritrovamento, nella cripta della chiesa della Conversione di San Paolo di Roccapelago (MO), di resti umani attribuibili a un elevato numero di individui, cronologicamente collocabili fra il XVI e il XVIII sec., ha dato la possibilità di sviluppare un ampio progetto multidisciplinare, che ha coinvolto diversi ambiti di ricerca: dall’archeologia all’antropologia, dalla paleopatologia all’entomologia, dall’archivistica allo studio dell’abbigliamento, ecc. Ciò anche grazie alle straordinarie condizioni di conservazione dei resti, in parte mummificati, e alla numerosità degli inumati, i quali rappresentano plausibilmente l’intera comunità montana di Roccapelago che si è susseguita nell’arco di circa duecento anni. Nel contesto di simili ricerche, oggi un contributo significativo può derivare dall’analisi genetica dei reperti biologici attraverso l’esame del DNA che in essi si conserva, il cosiddetto DNA antico (aDNA). Ciò apre nuovi affascinanti orizzonti di ricerca rendendo possibile ricostruire la storia degli organismi che hanno lasciato qualche traccia del loro passato. La ricerca ha previsto l’applicazione delle più recenti ed innovative tecniche nel campo del DNA antico, comprese le tecnologie di sequenziamento di nuova generazione (Next Generation Sequencing). Le analisi sono state svolte tenendo sempre conto delle principali linee guida previste nel settore di ricerca del DNA antico. In particolare, queste rigorose procedure (Golden criteria) prevedono l’obbligo di utilizzare un laboratorio esclusivamente dedicato all’estrazione del DNA antico (clean lab) ed un accurato monitoraggio delle possibili contaminazioni dei campioni, in tutte le fasi della ricerca, dal campionamento alle analisi in laboratorio. E’ stato infatti chiaramente dimostrato come la possibilità di contaminazione da DNA esogeno moderno sia molto elevata qualora non siano state prese le adeguate precauzioni. In aggiunta a tutte le rigorose procedure volte a limitare le contaminazioni, sono stati genotipizzati tutti i ricercatori venuti in contatto con i reperti analizzati.

Roccapelago (MO) is a small village located in the Northern Central Apennines, with a population of 31 inhabitants (2014). In 2010, more than 400 individuals dated between the end of the 16th and the 18th century, many of which partially mummified, were discovered in the crypt of the church. This small village, because of its geographical location and surrounding environment, seems to possess the characteristics of a genetic isolate, useful for population genetics and genealogical analyses. Thus, a diachronic study of DNA aimed at investigating the structure and dynamics of the population of Roccapelago over the about 4 centuries, was conducted by analyzing ancient and modern inhabitants of the village. The 14 modern samples were selected by considering both the founder surnames of the village, identified thanks to the study of parish registers, and the grandparent’s criterion. From 25 ancient mummies, morphologically assigned to male individuals, the petrous bone, that harbors high DNA amounts, was selected for the DNA extraction. The quantification and qualitative assessment of total human male DNA were evaluated by a real-time PCR assay using the Quantifiler Trio DNA Quantification Kit and multiplex PCR of 27 Y-chromosome short tandem repeat (Y-STR) markers included in the Yfiler Plus PCR Amplification Kit, with seven rapidly mutating Y-STR loci for improving discrimination of male lineages, was performed to genotype the samples. Y-STRs were analyzed according to the criteria of ancient DNA (aDNA) analysis to ensure that authentic DNA typing results were obtained from these ancient samples. The molecular analysis showed the usefulness of the Y chromosome to identify historically relevant remains and discover patterns of relatedness in communities moving from anthropology to genetic genealogy and forensics.

Background: Phoenician and Punic expansions have been protagonists of intense trade networks and settlements in the Mediterranean Sea. Aims: The maternal genetic variability of ancient Punic samples from the Sardinian necropolis of Tharros was analysed, with the aim to explore genetic interactions and signatures of past population events. Subjects and methods: The mtDNA HVS-I and coding region SNPs were analysed in 14 Punic samples and 74 modern individuals from Cabras and Belvì (for which the HVS-II region was also analysed). The results were compared with 5,590 modern Euro-Mediterranean sequences and 127 ancient samples. Results: While contemporary groups fall within the genetic variability of other modern Sardinians, our Punic samples reveal proximity to present-day North-African and Iberian populations. Furthermore, Cabras and Belvì cluster mainly with pre-Phoenician groups, while samples from Tharros project with other Punic Sardinian individuals. Conclusion: This study provides the first preliminary insights into the population dynamics of the Punic site of Tharros. While the number of currently available samples does not allow definitive investigation of the connection with indigenous Sardinian groups, our results seem to confirm internal migratory phenomena in the central-western Mediterranean and female participation in the Punic mobility.

The Italian peninsula was host to a strong history of migration processes that shaped its genomic variability since prehistoric times. During the Metal Age, Sicily and Southern Italy were the protagonists of intense trade networks and settlements along the Mediterranean. Nonetheless, ancient DNA studies in Southern Italy are, at present, still limited to prehistoric and Roman Apulia. Here, we present the first mitogenomes from a Middle Bronze Age cave burial in Calabria to address this knowledge gap. We adopted a hybridization capture approach, which enabled the recovery of one complete and one partial mitochondrial genome. Phylogenetic analysis assigned these two individuals to the H1e and H5 subhaplogroups, respectively. This preliminary phylogenetic analysis supports affinities with coeval Sicilian populations, along with Linearbandkeramik and Bell Beaker cultures maternal lineages from Central Europe and Iberia. Our work represents a starting point which contributes to the comprehension of migrations and population dynamics in Southern Italy, and highlights this knowledge gap yet to be filled by genomic studies.

Recent work has disclosed the critical role played by enamel peptides in sex classification of old skeletal remains. In particular, protein AMELY (amelogenin isoform Y) is present in the enamel dental tissue of male individuals only, while AMELX (isoform X) can be found in both sexes. AMELY can be easily detected by LC-MS/MS in the ion extracted chromatograms of the SM(ox)IRPPY peptide (monoisotopic [M + 2 H]+2 mass = 440.2233 m/z). In this paper, we exploited the dimorphic features of the amelogenin protein to determine the sex of the so-called ‘Lovers of Modena’, two Late Antique individuals whose skeletons were intentionally buried hand-in-hand. Upon discovery, mass media had immediately assumed they were a male-female couple, even if bad preservation of the bones did not allow an effective sex classification. We were able to extract proteins from the dental enamel of both individuals (~1600 years old) and to confidently classify them as males. Results were compared to 14 modern and archaeological control samples, confirming the reliability of the ion chromatogram method for sex determination. Although we currently have no information on the actual relationship between the ‘Lovers of Modena’ (affective? Kin-based?), the discovery of two adult males intentionally buried hand-in-hand may have profound implications for our understanding of funerary practices in Late Antique Italy.

Historical information related to the life of St. Mercurialis is very scarce, everything we currently know, we owe to its legenda, is contained within the manuscript Casanatense 718 dating to the 12th century. The only certain historical information concerns the ordination of one of his successors, Grato, which took place in Ravenna during the 5th century. The relics of St. Mercurialis, preserved inside the homonymous abbey, in the Cathedral of Santa Croce and in the Santissima Trinità church, during 2018 were object of the sixth canonical recognition, necessary to verify the state of conservation of the bones.

Background: A growing concern in conserving threatened animals affected by human impact has been significant worldwide. Among marine animals, sawfishes (Chondrichthyes, Pristidae) are considered one of the most endangered families among lasmobranchs, resulting in extinction in many coastal areas around the world, including the Mediterranean Sea. Here, sawfish ccurred with two species, Pristis pristis and P. pectinata, until the second half of the last century and are now considered Critically ndangered/Possibly Extinct. The historical occurrence of sawfish in the area is documented by bibliographic/ archival records and y numerous preserved historical rostra available in museum collections. In this study we attempted to genetically characterize the istorical remains of sawfish from several European museums and to enable the investigation of their evolutionary and ecological relationships with global samples. Results: A total of 80 rostra specimens, dated from 1700 to 1900 and catalogued as unknown origin or Mediterranean (11), were collected from 11 European museums and were properly prepared for ancient DNA genetic analysis. Taxonomic identification at the species level was obtained through PCR amplification of small fragments (150 bp) of two mitochondrial markers commonly used for species identification (i.e., the mitochondrial COII and the NADH 2). Sequence comparison with currently available ones from public repositories and phylogenetic tree analyses indicated that the historical specimens belonged to four species, P. pristis, P. zijsron, P. pectinata, and Anoxypristis cuspidate, with a high frequency of mismatches (69%) between molecular identification and species museum cataloguing, when present. These preliminary data also showed the presence of two sequence sub-clusters in the poorly barcoded species P. zijsron. Significance: With the expansion of this initial analysis, we will contribute to increase the limited olecular data of these critically endangered large predators and to exploit historical genetic data for reconstructing phylogenetic/phylogeographic extent of the possibly extinct population of Mediterranean sawfish.

Music is an exclusive feature of humankind. It can be considered as a form of universal communication, only partly comparable to the vocalizations of songbirds. Many trends of research in this field try to address music origins, as well as the genetic bases of musicality. On one hand, several hypotheses have been made on the evolution of music and its role, but there is still debate, and comparative studies suggest a gradual evolution of some abilities underlying musicality in primates. On the other hand, genome-wide studies highlight several genes associated with musical aptitude, confirming a genetic basis for different musical skills which humans show. Moreover, some genes associated with musicality are involved also in singing and song learning in songbirds, suggesting a likely evolutionary convergence between humans and songbirds. This comprehensive review aims at presenting the concept of music as a sociocultural manifestation within the current debate about its biocultural origin and evolutionary function, in the context of the most recent discoveries related to the cross-species genetics of musical production and perception.

The lactobacilli associated with a fermented goat milk product from Tajikistan were isolated to characterize their technological properties and antibiotic resistances in order to assess their suitability for development as starter cultures. In this study, twenty three strains were identified by 16S rRNA sequencing as typical dairy-associated lactic acid bacterial strains, i.e. L. plantarum, L. pentosus, L. delbrueckii, L. helveticus and L. paracasei strains. These strains were generally susceptible to most antibiotics tested in this study and this allowed a selection of strains as safe starters. The draft genomes of four representative strains were sequenced and the number of contigs of the four assembled genomes ranged from 51 to 245 and the genome sizes ranged from 1.75 to 3.24 Mbp. These representative strains showed differences in their growth behavior and pH reducing abilities in in vitro studies. The co-inoculation of these Lactobacillus spp. strains together with a yeast Kluyveromyces marxianus MBT-5698, or together with the yeast and an additional Streptococcus thermophilus MBT-2, led to a pH reduction to 3.4 after 48 h. Only in the case of fermentation inoculated with the co-culture, the viscosity of the milk increased noticeably. In contrast, fermentations with single strains did not lead to gelation of the milk and to decrease the pH after 24h. The results of this study provide a comprehensive understanding of the predominant lactobacilli related to Tajikistan fermented milk products.

Evidence of maternal care and childbirth events in the past are rare in the archaeological record and are difficult to recognize. To combat this, we analyzed thirteen double burials potentially related to childbirth death events, thereby containing an adult and a perinate. The specimens were excavated from the archaeological area identified as “Forli Campus” (Forli, Italy), that dated to 17th-18th centuries AD and was adjacent to a hospital in use at that time. This period witnessed the development of medical techniques and novel approaches in obstetrics in Europe, with the introduction of lying-in hospitals and maternity wards. We here tested if the double burials were ascribable to childbirth death events and thus represent the first reported cases of the hospitalization of childbirth in the history of medicine. A multidisciplinary analysis was undertaken to achieve this aim, combining anthropology, archaeology, paleopathology and archaeogenetics. In five burials the adult individual was recognized as a female in fertile age and the non-adult individual was assigned as perinate. Mitochondrial DNA analysis highlighted different haplotypes among the individuals of these burials, and these results, combined with the archaeological and anthropological data do not support a possible maternal relationship between them. This study is novel in testing the hypotheses of childbirth deaths, through a reliable approach in the interpretation of these archaeological contexts. The analysis of ancient DNA in this particular application proves a useful strategy to support and complete the interpretation of archaeological and anthropological data, showing that a general assumption of mother/child relations within such burials can be misleading.

Objective To evaluate, via a multidisciplinary approach, a distinctive paleopathological condition believed to be fibrous dysplasia, found on a 19th/20th century skeleton from Certosa Monumental Cemetery, Bologna, Italy. Materials A skeletonized cranium and mandible recovered from an ossuary in 2014. Methods Pathological alterations were analysed by radiological examination, dental macrowear, histopathological and genetic analyses. Result The skeleton is believed to be an adult male. Differential diagnoses include Paget's disease, McCune-Albright syndrome, osteochondroma and osteosarcoma. The radiographic findings, along with the solitary nature of the lesions, are strong evidence for the diagnosis of fibrous dysplasia (FD). Genetic analysis further revealed a frequency of ˜1% of mutant alleles with the R201C substitution, one of the post-zygotic activating mutation frequently associated with FD. Conclusions The multi-analytical method employed suggests a diagnosis of monostotic form of FD. The diagnostic design incorporates multiple lines of evidence, including macroscopic, histopathological, and genetic analyses. Significance Through the use of a multi-analytic approach, robust diagnoses can be offered. This case serves as one of the oldest examples of FD from an historical context. The genetic mutation detected, associated with FD, has not been previously reported in historical/ancient samples.

Although the practice of autopsy on the Pope's corpse was performed from the 16th century, autopsy reports are only rarely analysed, and never with the aim of investigating the real causes of the death from a concomitant medical and historical point of view. Here, for the first time, we report on the discovery of new unpublished documents from the Vatican Secret Archives and their investigation by a scientific and inter-disciplinary approach. This analysis allows us to draw new conclusions on the true cause of Leo XII's mysterious death. His sudden death, that occurred on February 10th, 1829 after a short illness, particularly struck the public. Suspicions of poisoning or surgeon's guilt or inexperience and even the shadow of a venereal disease, contributed to create a "black legend" on his pontificate and death. On the contrary, the present paleopathographic analysis points toward a new conclusion. The regular use of catheterization with a silver syringe provided an easy access for bacterial superinfection, confirmed by the observed early emphysematous stage of the corpse. So, the most substantiated hypothesis concerning the cause of Leo XII's death indicates a severe form of sepsis, exacerbated by a weakened state due to chronic hemorrhoids.

L’origine e l’unicità genetica del lupo italiano (Canis lupus italicus) sono state oggetto di diversi studi. Recenti pubbli- cazioni descrivono la distribuzione spazio-temporale di due ecomor , uno dei quali (HG2), associato alla megafauna pleistocenica, era dominante in Eurasia e in America durante l’ultimo massimo glaciale (LGM). In seguito al successivo cambiamento climatico un “nuovo” ecomorfo (HG1) ha sostituito i lupi preesistenti in Nord America, ed è divenuto progressivamente dominante in Eurasia. La popolazione italiana attuale è l’unica sopravvissuta interamente riferibile all’ecomorfo antico, ma le dinamiche che hanno portato a questa situazione non sono ben de nite. I reperti di ex Cava a Filo (16 campioni, datati da circa 25000 a circa 17400 anni fa) sono stati analizzati allo scopo di confrontare una regione del DNA mitocondriale con sequenze antiche e moderne di lupi e cani. Dai risultati emergono analogie con lupi antichi dell’Europa settentrionale e della Beringia, lupi moderni e anche cani primitivi e recenti. Alcuni campioni mostrano una notevole similitudine con i lupi italiani contemporanei. I lupi preistorici di ex Cava a Filo, associati a bisonti e megaceri, appartenevano solo alla popolazione riferita a HG2, caratterizzata da una maggiore variabilità e in continuità con la situazione attuale. Presumibilmente l’ondata migratoria dei lupi con HG1 non ha raggiunto l’Italia in numeri signi cativi, facendo della penisola italiana l’ultimo rifugio di un’antica popolazione di lupo un tempo di usa nell’intero emisfero nord.

This case report examines the differential diagnosis of an unusually fused chest belonging to a perinatal human remain retrieved in the crypt of Roccapelago (Italy). This specimen, which dated back to the final 18th century, showed a severe synostosis of the costovertebral articulations and posterior arches. The specimen was examined macroscopically and radiologically for the purpose of identify differences in mineral density. It also underwent CT scan in order to create a 3D digital model and virtually reposition in anatomical position. The radiological trophism, size, and osteological maturity of the specimen are compatible with a perinate. The chest morphology shows a characteristic crab like morphology, with the costovertebral articulations and the posterior arches completely fused. Accordingly, a diagnosis of Jarcho Levin Syndrome has been suggested. This case appears to be the first report, to the knowledge of the authors, of a probable Jarcho-Levin syndrome, which dated before Jarcho and Levin codified this pathology in the scientific literature.

In 2014 an archaeological area dated between the 17th and the 18th centuries and located in the historical downtown of the city of Forlì (FC), in Northern Italy, offered the possibility to retrieve and study a huge amount of burials, some of which contained perinatal individuals buried in the same grave with adults. The location of this archaeological site (identified as “Forlì Campus”), near the area of the ancient city hospital, generated the idea that this site could have been the hospital cemetery in the 18th century. The possibility to study the bisome burials, represented by an adult and a perinatal individual, coupled with the period to which they date, make this sample of particularly interest. In fact, since prehistoric times, pregnancy, labor, birth and obstetrics have been women’s field.

Extensive European and African admixture coupled with loss of Amerindian lineages makes the reconstruction of pre-Columbian history of Native Americans based on present-day genomes extremely challenging. Still open questions remain about the dispersals that occurred throughout the continent after the initial peopling from the Beringia, especially concerning the number and dynamics of diffusions into South America. Indeed, if environmental and historical factors contributed to shape distinct gene pools in the Andes and Amazonia, the origins of this East-West genetic structure and the extension of further interactions between populations residing along this divide are still not well understood. To this end, we generated new high-resolution genome-wide data for 229 individuals representative of one Central and ten South Amerindian ethnic groups from Mexico, Peru, Bolivia, and Argentina. Low levels of European and African admixture in the sampled individuals allowed the application of fine-scale haplotype-based methods and demographic modeling approaches. These analyses revealed highly specific Native American genetic ancestries and great intragroup homogeneity, along with limited traces of gene flow mainly from the Andes into Peruvian Amazonians. Substantial amount of genetic drift differentially experienced by the considered populations underlined distinct patterns of recent inbreeding or prolonged isolation. Overall, our results support the hypothesis that all non-Andean South Americans are compatible with descending from a common lineage, while we found low support for common Mesoamerican ancestors of both Andeans and other South American groups. These findings suggest extensive back-migrations into Central America from non-Andean sources or conceal distinct peopling events into the Southern Continent.

Among the many fish species commercially exploited since prehistoric times, Atlantic bluefin tuna (Thunnus thynnus) is one of the most economically significant, having left an indelible imprint on several civilizations including the Phoenicians, Greeks, and Romans. Here, we describe our efforts to identify tuna specimens among the remains of 345 fish vertebrae and bones in several large collections from the Atlantic Ocean, Mediterranean Sea, and Black Sea, dating from the Late Iron Age (2nd century BCE) to the early 20th century (1911-1927). Unfortunately, ancient fish specimens are often mislabelled, which can cause a great deal of confusion among zoologists. Protocols were developed and optimized to overcome the unique challenges related to the compromised integrity of genetic material preserved in ancient bones. Three DNA isolation protocols were compared to maximize yields, and as reported for other faunal remains, a silica spin column-based method was proven most effective. Endogenous DNA was successfully extracted from the majority of bones and amplified using polymerase chain reactions (PCRs) and an assortment of four primer pairs targeting nuclear (internal transcribed spacer) and mitochondrial sequences (cytochrome oxidase subunit 1 and control region). Protocols targeting mitochondrial markers were more successful than those focused on nuclear targets. Due to the restricted length of the extracted DNA molecules, character-based keys containing diagnostic nucleotide substitutions were defined and used to identify 231 samples to genera, of which 171 were identified to species level. The success rate of assignment of specimens to species level varied between location and collection, reflecting variation in DNA preservation between different sites and environments. The methods detailed herein can be used to identify other ancient fish specimens and provide information about historical human diets, trade, species distribution, and biodiversity. The same tools can be applied to the analysis of processed food items with highly damaged DNA.