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Many diseases induce alterations in the human skeleton, leaving traces of their presence in ancient remains. Paleopathological examination of human remains not only allows the study of the history and evolution of the disease, but also the reconstruction of health conditions in the past populations. This paper describes the most interesting diseases observed in skeletal samples from the Roman Imperial Age necropoles found in urban and suburban areas of Rome during archaeological excavations in the last decades. The diseases observed were grouped into the following categories: articular diseases, traumas, infections, metabolic or nutritional diseases, congenital diseases and tumours, and some examples are reported for each group. Although extensive epidemiological investigation in ancient skeletal records is impossible, the palaeopathological study allowed to highlight the spread of numerous illnesses, many of which can be related to the life and health conditions of the Roman population.

Exploration of the Medici chapels in San Lorenzo in Florence revealed the burials of nine infantile members of the Medici family. Eight children were found in the intact tomb of the last Grand Duke Giangastone (1671- 1737). The crypt contained several small coffins collapsed to the floor or randomly spread over a raised plank, as a result of the disastrous flood of the Arno river in 1966, which partly upset the tomb and left a layer of dry mould. The children's remains, mostly skeletonised, were found inside the coffins or scattered on the floor or on the plank, probably transported by the water. Another child was exhumed from the chapel of Grand Duke Ferdinand I (1549-1609) and Cristina from Lorena (1565-1636). The infantile remains were submitted to anthropological study, which allowed to establish the number of individuals buried in the crypt, and to estimate the age at death. The anthropological results were compared with information provided by archival documents, related to members of the family who died in infantile age. An identification of the children is proposed.

The Middle Pastoral human remains from Wadi Takarkori in the Libyan Acacus mountains (Fezzan) are exceptionally preserved partial mummies ranging between 6100 and 5000 uncal years BP; this small sample represents the most ancient of its kind ever found. In this report, we present a survey of the skeletal anatomy of these mummifed corpses, based on high resolution CT-scan data, including a preliminary phenetic interpretation of their cranial morphology.

We performed a histopathological study on the mummified tissue specimens of seven pre-Columbian mummies which arrived in Italy in the second half of the 19th century and are housed in the Section of Anthropology and Ethnology of the Museum of Natural History of the University of Florence. The results confirm that the modern techniques of pathological anatomy can be successfidly applied on mummifed tissues, so as to perform important paleopathological diagnoses. Among the results obtained from this study there is the only known complete paleopathological study of Chagas' disease (American Trypanosomiasis), comprising macroscopic, microscopic and ultrastructural data, as well as information on atherosclerosis, anthracosis, emphysema and pneumonia.

Among the children found in the crypt of the Grand Duke Giangastone in S. Lorenzo Basilica (Florence), the skeletal remains of a 5-year-old child still wearing his fine high social status clothing were recovered. This child of the Medici family was identified as Don Filippino (1577-1582), son of the Grand Duke Francesco I (1541-1587) and Giovanna from Austria (1547 - 1578). The prince showed several pathological deformities of the cranial and post-cranial skeleton, including enlargement of the cranium, thinning of the cranial vault bones (craniotabes), platybasia and marked bending of femora, tibiae and fibulae. Differential diagnosis suggests that Don Filippino was affected by rickets. The occurrence of this metabolic disease related to vitamin D deficiency in a Renaissance high social class individual can be explained by the practice of very prolonged breast-feeding, up until two years of age. Maternal milk contains insufficient vitamin D ratios and retarded weaning severely exposes children to a higher risk of developing rickets, especially if dietary habits are combined with inadequate exposure to sunlight. Historical sources describe Don Filippino as frail and sickly, with frequent illnesses and persistent slight fevers, and it can be supposed that the child was frequently confined indoors, especially in the cold season. Integration of osteoarchaeological evidence with historical documentation suggests that bone lesions observed in the skeletal remains of Don Filippino are compatible with a diagnosis of rickets, caused by the custom of prolonged breast-feeding associated with inadequate sunlight exposure to sunlight. Historical sources describe Don Filippino as frail and sickly, with frequent illnesses and persistent slight fevers, and it can be supposed that the child was frequently confined indoors, especially in the cold season. Integration of osteoarchaeological evidence with historical documentation suggests that bone lesions observed in the skeletal remains of Don Filippino are compatible with a diagnosis of rickets, caused by the custom of prolonged breast-feeding associated with inadequate sunlight exposure.

This paper describes some cases of individuals affected by skeletal deformities resulting in "freak" appearance. The skeletal remains were found during large archaeological excavations in the Roman territory, carried out by the Special Superintendence to the Archeological Heritage of Rome in the last years, dated back to the Imperial Age. The first cases reported are referred to two growth disorders with opposite effects: a case of dwarfism and another of gigantism. The former concerns a young man from the Collatina necropolis with very short and malformed limbs, which allowed a diagnosis of acondroplasic dwarfism, a rare congenital disorder that limits height below 130 cm. The latter case comes from the necropolis of Torre Serpentana in Fidenae, and is instead referred to a young person of very high stature, about 204 cm, suffering from Gigantism, a rare condition which in this case seems to have been linked to a hormonal dysfunction due to a pituitary adenoma. A third case regards a joint disease affecting the vertebral column and causing severe deformities. The skeleton was found in the Collatina necropolis and belongs to an old woman, suffering from ankylosing spondylitis. Finally, the last and very peculiar case is related to an individual recovered in the necropolis of Castel Malnome. The skeletal remains belong to an adult man with a complete fusion of the temporo-mandibular joint, which compromised mastication and caused severe deformation of the maxillofacial complex. These cases are described in detail together with the possible implications that these deformities could have on in the social context.

The increasing attention of archaeological and anthropological research towards palaepathological studies has allowed to focus the examination of many skeletal samples on this aspect and to evaluate the presence of many diseases afflicting ancient populations. This paper describes the most interesting diseases observed in skeletal samples from some necropoles found in urban and suburban areas of Rome during archaeological excavations in the last decades, and dating back to the Imperial Age. The diseases observed were grouped into the following categories: articular diseases, traumas, infections, metabolic or nutritional diseases, congenital diseases and tumours, and some examples are reported for each group. Although extensive epidemiological investigation in ancient skeletal records is impossible, the palaeopathological study allowed to highlight the spread of numerous illnesses, many of which can be related to the life and health conditions of the Roman population.

In the last decades, paleopathologists have developed a growing interest in archaeological, anthropological, and medical disciplines. However, although there have been satisfactory results, which are reflected in numerous publications at the international level and in academic credits that,for example, have led to the establishment of an autonomous Division of Paleopathology (unique in an Italian University) at the Faculty of Medicine in Pisa, the future seems not so bright. Indeed, the lack of general interest that Italian institutions have shown toward research and the reduction of ministerial financial support, will result not only in a lack of a generational turnover among researchers, but also in the suspension or closure of the few paleopathology courses that are now running, and in the layoff of the small but excellent study groups currently working in the field.

The relative abundance of neoplastic lesions documented so far in paleopathological literature, distributed over a wide lapse of time and in different geographic areas, demonstrates that a number of tumours affected past populations. Nevertheless, if dozens of cases of tumors affecting the skeleton are reported, only afew records are documented in soft tissues. The rarity of tumors in mummies is a debated problem; short life span of past populations, scarcity of mummified remains arrived to us in comparison with skeletal remains and technical difficulties to detect neoplastic lesions in ancient tissues seem to be the main reasons of the rarity of findings. It is important to pay maximum attention to any little sign of neoplastic lesion in ancient human remains, in order to increase our limited knowledge about the type of tumours and relative incidence afflicting our ancestors. Comparison with modern data could help understand the evolution patterns of cancer in the history of Mankind.

The "Black Death" and subsequent epidemics from 1346 to the early 18th century spread from the Caspian Sea all over Europe six hundred years after the outbreak of the Justinian plague (541-767 AD). Plague has been one of the most devastating infectious diseases that affected the humankind and has caused approximately 200 million human deaths historically. Here we describe the different approaches adopted in the study of several French putative plague mass burials dating to the Modern Age (16th-18th centuries). Through complementation of historical, archaeological and paleobiological data, ample knowledge of both the causes that favoured the spread of the Medieval plague in cities, towns and small villages and of the modification of the customary funerary practices in urban and rural areas due to plague are gained.

The application of paleoimmunological techniques on ancient human bone tissue allowed the identification of ancient pathogens, such as malaria by Plasmodium falciparum. Until now the immunocromatographic tests were applied only on mummified muscle. Ir this study positive results were obtained using ancient spongy bone samples belonging to the skeletal remains of four members of the Medici family of Florence who, according to archive data, died of malaria: Eleonora di Toledo (1522-1562), Giovanni (1543-1562) and don Garzia (1547-1562), and the Grand Duke Francesco I (1531-1587). These results are of particular interest not only because they confirm the historical data, but also because they demonstrate that immunological tests can be applied to bone samples, opening new paths of research for the screening of large skeletal series.

A dressing was observed on the left arm of the mummy of Mary of Aragon (1503-1568), under her precious Renaissance clothes. It consisted of a true medical bandage, covering a large syphilitic cutaneous ulcer, with a sulphur-embedded wad still in situ. The bandage has a very peculiar shape, rather different from the usual dressings described in the contemporary medical texts: a central rectangular pad, used as compressing appliance, is provided with a sort of pocket containing ivy leaves. The function of the dressing was not only to cover and protect the ulcer, but also to apply a plant drug. This is the first case of ancient medical bandage studied directly on a mummified body.

We report the case of an anencephalic foetus petrified by Gerolamo Segato in the course of his experiments on body conservation. The specimen has been studied applying non-invasive methods. Digital radiography and computed tomography (CT) alogside more advanced techniques such as three-dimensional (3-D) reconstruction and virtual endoscopy (VE) have been used to investigate anatomic morphology and to perform hypotheses about Segato's method of petrification which is still unknown.

Within the framework of the Medici Project, a paleopathological team of experts from the University of Pisa, the University of Florence and the Superintendence for Florentine Museums, is carrying out a study on 49 tombs of some of the Medici family members (16th-18th centuries) housed in the so-called Basilica of San Lorenzo in Florence. The project involves disciplines such as paleopathology, funerary archeology, physical anthropology, paleonutrition, parasitology, histology, histochemistry, immuno-histochemistry, electron microscopy, molecular biology, and identification of ancient pathogens. The most recent biomedical imaging technologies have been employed to obtain as much information as possible about the genetic make-up, eating habits, life styles and diseases of these important rulers of Renaissance Florence. The first anthropological and paleopathological results are presented here.

The inner Abruzzo region is a land of mountains and highlands with cold, dry climate, in which we started a systematic search of human remains. The five natural mummies found in the friary of San Giorgio degli Osservanti in Goriano Valli showed excellent preservation. Paleopathologic investigations demonstrated goiter, prostatic hyperplasia, arteriosclerosis, pneumonia, pulmonary silicoanthracosis, and two neoplasms. The series from the church of the Santissima Trinità in Popoli includes at least eight mummified bodies buried in a crypt. During a preliminary investigation we studied a 35-40 year old nobleman with poor dental status, costal fractures and a renal stone. The recovery of mummified human remains in the church of San Sebastiano in Navelli yielded 206 individuals. The initial paleopathologic analysis identified parodontal disease, fractures, tumors, degenerative joint diseases and traces of post-mortem examination. The presence of so many subjects represents a rich cultural heritage, confirming the great paleopathologic interest of the region.

The paleopathological study of 31 Italian Renaissance mummies from the Basilica of S. Domenico Maggiore in Naples has allowed us to perform about 20 diagnoses, of which 5 concern infectious (smallpox, hepatitis, condyloma, syphilis and pneumonia), 3 metabolic (obesity, atherosclerosis, gallstones), I articular (DISH) and 2 neoplastic (colon adenocarcinoma and skin carcinoma) diseases. The mummy of an anonymous child, dated back to the 16th century (14C: 1569 +/- 60), presented a diffuse vesiculopustular exanthema. Macroscopic aspects and regional distribution suggested smallpox, while EM revealed many egg-shaped, virus-like particles (250 x 50 nm), with a central dense core. Following incubation with anti-smallpox virus antiserum and protein A-gold complex immunostaining, the particles resulted completely covered with protein A-gold. These results clearly show that this Neapolitan child died of a severe form of smallpox some four centuries ago. The mummy of Maria d'Aragona, Marquise of Vasto (1503-1568), revealed on the left arm an oval, cutaneous ulcer (15 x l0 mm) with linen dressing. Indirect immunofluorescence with anti-treponema pallidum antibody identified a large number of filaments with the morphological characteristics of fluorescent treponemes. Electron microscopy evidenced typical spirochetes, with axial fibril. These findings clearly demonstrate a treponemal, probably venereal, infection. Further examination of the mummy showed a large peduncolate arborescent neoformation (2 x 7 mm) of the right inguinal region, which was rehydrated and submitted to histology by hematoxylineosin, Van Gieson and Masson's trichromic staining. Light microscopy evidenced an exophytic, papillary skin lesion, with typical connective axis and pronounced parakeratosis. These macroscopic and histological aspects seemed peculiar of condyloma acuminatum, a papillomavirus-induced squamous lesion also called "venereal wart". Molecular study revealed the presence of HPV 18, a virus with high oncogenic potential. Automated sequencing of several clones revealed 100% similarity sequences of both HPV 18 and JC9813 DNA, a putative novel HPV with low oncogenic potential. This study represents the first molecular diagnosis of HPV in mummies and could pave the way for further research about the secular evolution of these viruses, very important in human oncology. The buccal surfaces of the teeth of Isabella d'Aragona, duchess of Milan ((1470-1524), covered by a black patina with high mercury levels, have been intensively and intentionally abraded. The black patina can be attributed to chronic mercury intoxication, used therapeutically in the treatment of syphilis. The mummy of Ferrante I d'Aragona, King of Naples (1431-1494), revealed an adenocarcinoma extensively infiltrating the muscles of the small pelvis. A molecular study of the neoplastic tissue evidenced a typical mutation of the K-ras gene codon 12: the normal sequence GGT (glycine) was altered into GAT (aspartic acid). At present this genetic change is the most frequent mutation of the K-ras gene in sporadic colorectal cancer. The alimentary "environment" of the Neapolitan court of the XV century, with its abundance of natural alimentary alkylating agents, well explains this acquired mutation. These and other diseases as, for example, a case of cirrhosis, some cases of anthracosis and other peculiar traumatic conditions, such as a mortal stab-wound, can elucidate the pathocenosis of this wealthy classes of the Italian Renaissance.

Molecular paleopathology is an emerging field that is devoted to the detection, indentification and characterization of the molecular signatures in past diseases. When studied with modern molecular techniques, ancient human remains may yield direct informations on the diseases of ancient populations as well as the history of human diseases. Data concerning specific diseases of infectious, neoplastic and genetic origin can be obtained by molecular investigations of skeletal and mummified human remains. In particular, ancient DNA extracted from bone tissue, teeth and mummified soft tissue can be deeply analyzed by using PCR-based molecular techniques. Additionally, DNA of ancient pathogens, including bacteria, viruses and parasites, can be isolated from human remains and molecular diagnosis of infectious diseases can be made. Thus, molecular data, complemented by morphological and biochemical analyses, could help to reconstruct the epidemiology of past diseases and epidemics.

Since the most ancient times the problem of the artificial preservation of dead bodies has been an important object of study. In ancient and classic times the reasons leading to this practice were essentially of a religious and esoteric type, but in the modern age, following the development of medical and biological studies, embalming has assumed a more practical trend which is both medicine and scientific. The discovery of blood circulation has marked the scientific method which, in its various forms, has circulated all over Europe bringing fame to eminent anatomists such as Federico Ruysch (1638-1731), William (1718-1783) and John Hunter (1728-1793), Jean Nicolas Gannal (1791-1852), Giuseppe Tranchina, Laskowky and Brosch, who affirmed the embalming by endoarterial injection of conservation fluids making evisceration useless and obsolete. The advent of formalin and the introduction of new surgical and autoptic methods have made this practice gradually fall into disuse. For this reason, the mummy found in Leghorn (Tuscany, Central Italy) is of particular importance since was obtained applying the intravascular injection following the method, described by the Italian medical Giuseppe Tranchina in 1835. The mummified body belongs to Gaetano Arrighi, a prisoner in the Leghorn fortress. He was born in Arezzo in 1789 and died on March 1836 at the age of 47 in the Civil Hospital of Leghorn following pleurisy, as results in an annexed document. The day after his death Dr. Raimondo Barsanti from Pisa and Superintendent at the Leghorn hospital made up the Tranchina's method, which consisted in the injection of an arsencial -mercury solution inside of the blood vessels, giving rigidity and dark red color to the dead body. The excellent outcome of the intervention has made it possible, more than 160 years later, to study not only the method by which Arrighi's body was embalmed but also to perform a careful paleopathological imaging study by traditional X-rays and by Computer Axial Tomography (CAT). The high percentage of mercury present in the conservation fluid conferred radiopacity, making it possible to evidence the diffusion of the liquid into the entire artery tree and in particular into the aorta as well as in all the right and left artery systems. The radiopacity showed an unusual thoracic picture suggesting a pathological situation. The CAT study enriched and ameliorated the results obtained by X-rays making it possible to reconstruct the embalming procedure and to confirm the diagnosis of wet pleurisy probably cause by a tubercular infection.

In 1884, at the Faculty of Medicine of the University of Pisa, the new chair of pathology was inaugurated and Angelo Maria Maffucci was appointed first director. Angelo Maffucci was born in 1845 in Calitri, near Avellino, from a farming family. After graduating in medicine at Naples, in 1872, he started his scientific work at the institute of pathology, under Otto von Schrön (1837-1917). He was professor of general pathology in Messina then Professor of pathology at the university of Catania. In 1884 assumed the role of chairman of pathology at the university of Pisa, where he died in 1903. His scientific contribution is recorded in the massive collection of his personal notes, sketchbooks and watercolours. In 1881 he described, for the first time, the disease characterized by an enchondroma with multiple angiomas, known as Maffucci's Syndrome. The most important scientific contribution was in the field of tuberculosis. Maffucci asserted that avian tuberculosis had a different aetiology from the bovine and human forms. This revolutionary theory caused a strong scientific conflict with Robert Kock. In the last years of his life his pioneering research provided the basis for the following modern investigations to produce vaccines from living bacilli. As a person he was described as brilliant and modest, shy and rigorous.

Pandolfo III Malatesta, Prince of Fano, was born in 1370 from Galeotto Malatesta and Gentile Varano. He was a leading figure of the Italian Renaissance and Captain General of the troops of the Republic of Venice in the war against the Visconti of Milan and the Hungarians. The Prince represents a typical example of a XVth century condottiere. He was a strong, active man, a valiant soldier and horseman at times impulsive and, as somebody noticed, a lover of "charming women". As a matter of fact during his life he married three noble women, but had only illegitimate descendants. Pandolfo died on October 3, 1427, at the age of 57, soon after his third marriage to a woman who was 40 years younger. His natural mummy, resumed in 1995, was submitted to conventional X-ray, to autopsy and to videographic examination of the mouth making possible the diagnosis of prostatic hyperplasia and a number of skeletal-muscle acquired lesions. The present paper analyses and correlates both the life style of Pandolfo and the muscles-skeleton lesions. The results showed a strict correlation allowing the elaboration of a typical ergonomic model: as a matter of fact the Prince was a soldier, constantly dressing a heavy suit of armour, using cold steel such as the sword and riding as horseman, fighting during the battles or jousting during the chivalrous tournaments.

We discuss the relevance of ancient DNA studies for novel approaches to a variety of fields of scientific inquiry, including population and evolutionary genetics, prehistoric archaeology, paleopathology and history of human diseases. To exemplify the potential of ancient DNA research, we provide accounts of studies currently conducted at our laboratories in four different areas: 1) origins of the dog and phylogeny of prehistoric Italian canids; 2) paleogenetics of ancient Roma; 3) antiquity for variant alleles implicated in disease predisposition; 4) molecular investigation of pathologic lesions in Italian mummies of Renaissance age. The implications of the results obtained are briefly outlined.