Insights into Punic genetic signatures in the southern necropolis of Tharros (Sardinia).

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.

Transhumance pastoralism of Roccapelago (Modena, Italy) early-modern individuals: Inferences from Sr isotopes of hair strands.

OBJECTIVES: In this work, we use Sr isotopes to analyze human hair and determine short-term movements of a contemporary human traveler and of early-modern individuals from an archaeological site (Roccapelago, Modena, Italy, 16th-18th century). MATERIALS AND METHODS: Analyses were performed using a Neptune MC-ICP-MS. We first set up and tested the procedure on scalp hair of a contemporary human, who spent some time between Brazil and Italy. We then analyzed the 87 Sr/86 Sr ratios of eight exceptionally well-preserved archaeological hair specimens associated with human mummies from Roccapelago. Trace elements were analyzed by LA-ICP-MS on single-hair specimens to check the preservation of the archaeological samples. RESULTS: The strontium isotope composition of modern human hair varies from 0.7087 to 0.7093. The 87 Sr/86 Sr ratios of the Roccapelago hair strands range from 0.7082 to 0.7137, with an average of 0.7093 ± 0.0031 (2σ), revealing also intra-individual differences in isotopic composition along the length of the hair shaft. Data were compared with local archaeological rodent bones and teeth and with published isotopic values of water and outcropping rocks. Trace element abundances of archaeological and modern human hair are similarly low in terms of Rare Earth Element (REE) and metal contents, in particular after HNO3 leaching. DISCUSSION: The variable modern human hair 87 Sr/86 Sr ratios show that high-resolution hair sampling tracks the movements of this individual between the two continents. The Sr isotope composition of the mummy hair is consistent with sub-annual human movements from Roccapelago to an area with different 87 Sr/86 Sr ratios. Historical sources indicate that individuals from Roccapelago travelled with their herds to Tuscany for transhumance pastoralism practices. The high radiogenic 87 Sr/86 Sr ratios (>0.71) found in some of the hair are possibly consistent with the Tuscan Magmatic Province and the Tuscan Metamorphic Complex isotope signature. To our knowledge, this is the first study in an archaeological context where the Sr isotope evidence of mobility is corroborated by historical documents.

PALEORADIOLOGICAL STUDY ON TWO INFANTS DATED TO THE 17th AND 18th CENTURIES

During an excavation campaign in the Church of the Conversion of Saint Paul in Roccapelago (North Italy), a hidden crypt was discovered, which yielded the remains of more than 400 individuals. The crypt was used as a cemetery by the inhabitants of the village of Roccapelago between the 16th and 18th centuries. Along the north side of the crypt, an area apparently separated from the rest of the burials was found, bordered by stones, where several burials of newborns and infants were concentrated. From here, five fabric rolls containing bones were recovered, and it was decided not to carry out destructive analyses, allocating the two best examples to a thorough radiological investigation to try to define the type of burial and the complete biological profile of the infant. The two rolls, subjects of this study, can be dated archaeologically between the 17th and 18th centuries. CT analysis shows a varied group of bones with a fairly good state of conservation. The paleoradiological study carried out had the primary objective of avoiding the destruction of the two rolls, ensuring their conservation; but at the same time, providing essential data to understand their nature, defining the biological profile and the type of deposition.

Bioarchaeological and paleogenomic profiling of the unusual Neolithic burial from Grotta di Pietra Sant'Angelo (Calabria, Italy).

The Neolithic burial of Grotta di Pietra Sant'Angelo (CS) represents a unique archaeological finding for the prehistory of Southern Italy. The unusual placement of the inhumation at a rather high altitude and far from inhabited areas, the lack of funerary equipment and the prone deposition of the body find limited similarities in coeval Italian sites. These elements have prompted wider questions on mortuary customs during the prehistory of Southern Italy. This atypical case requires an interdisciplinary approach aimed to build an integrated bioarchaeological profile of the individual. The paleopathological investigation of the skeletal remains revealed the presence of numerous markers that could be associated with craft activities, suggesting possible interpretations of the individual's lifestyle. CT analyses, carried out on the maxillary bones, showed the presence of a peculiar type of dental wear, but also a good density of the bone matrix. Biomolecular and micromorphological analyses of dental calculus highlight the presence of a rich Neolithic-like oral microbiome, the composition of which is consistent with the presence pathologies. Finally, paleogenomic data obtained from the individual were compared with ancient and modern Mediterranean populations, including unpublished high-resolution genome-wide data for 20 modern inhabitants of the nearby village of San Lorenzo Bellizzi, which provided interesting insights into the biodemographic landscape of the Neolithic in Southern Italy.

Twenty-Seven Y-Chromosome Short Tandem Repeats Analysis of Italian Mummies of the 16th and 18th Centuries: An Interdisciplinary Research.

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.

Giant cell tumor of bone in an eighteenth-century Italian mummy.

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.

A case of dwarfism in 6th century Italy: Bioarchaeological assessment of a hereditary disorder.

OBJECTIVE: The skeletal remains of a short-statured individual (T17) are described and a differential diagnosis performed to determine the etiology of the condition. MATERIALS: An individual considered pathologically short in stature was discovered in the burial site of Piazza XX Settembre, Modena (northern Italy). METHODS: Morphological and morphometric analyses were performed, and T17 was compared to dwarfs from other localities and periods and to the adult female population from the same site. A paleopathological survey was undertaken to assess the degree of the skeletal elements of T17 were affected. RESULTS: T17 was a female, 20-30 years of age at death, with a stature of 128 cm and disproportionate dwarfism associated with congenital skeletal dysplasia. CONCLUSIONS: T17 likely affected by a form of hypochondroplasia. SIGNIFICANCE: Anatomical consequences of hypochondroplasia are presented, and the timeframe and associated burial goods suggest a 6th-century Lombard short stature belonging to one of the earliest Lombard settlements in Italy. SUGGESTIONS FOR FURTHER RESEARCH: Future genetic analysis would resolve if the mutation in the type 3 fibroblast growth factor receptor (FGFR3) is present in the remains of T17; however, it is not exclusivly linked to hypochondroplasia.

Pope Leo XII's death: the twist to a longstanding dispute by novel historical documents and paleopathographic analysis.

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.

Multi-analytic study of a probable case of fibrous dysplasia (FD) from certosa monumental cemetery (Bologna, Italy).

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.

CT Scan of Thirteen Natural Mummies Dating Back to the XVI-XVIII Centuries: An Emerging Tool to Investigate Living Conditions and Diseases in History.

OBJECTIVES: To correlate the radiologic findings detected with computed tomography scan with anthropological data in 13 naturally mummified bodies discovered during works of recovery of an ancient church in a crypt in Roccapelago, in the Italian Apennines. METHODS: From a group of about sixty not-intentionally mummified bodies, thirteen were selected to be investigated with volumetric computed tomography (CT). Once CT scan was performed, axial images were processed to gather MPR and Volume Rendering reconstructions. Elaborations of these images provided anthropometric measurements and a non-invasive analysis of the residual anatomical structures. For each body the grade of preservation and the eventual pathological changes were recorded. Furthermore, in order to identify nutritional and occupational markers, radiologic signs of bone tropism and degenerative changes were analysed and graded. RESULTS: Mummies included seven females and six males, with an estimated age ranging from 20 to 60 years. The first relevant finding identified was a general low grade of preservation, due to the lack of anatomic tissues different from bones, tendons and dehydrated skin. The low grade of preservation was related to the natural process of mummification. Analysing bone degenerative changes on CT scan, the majority of the bodies had significant occupational markers consisting of arthritis in the spine, lower limbs and shoulders even in young age. Few were the pathological findings identified. Among these, the most relevant included a severe bilateral congenital hip dysplasia and a wide osteolytic lesion involving left orbit and petrous bone that was likely the cause of death. CONCLUSIONS: Although the low grade of preservation of these mummies, the multidisciplinary approach of anthropologists and radiologists allowed several important advances in knowledge for the epidemiology of Roccapelago. First of all, a profile of living conditions was delineated. It included occupational and nutritional conditions. Moreover, identification of some causes of death and, most importantly the definition of general living conditions.