Testing the Digital Atlas of Ancient Rare Diseases (DAARD) using a new case of Legg-Calvé-Perthes disease from Early Byzantine (500-700 CE) Olympia, Greece.

Objective: The first case of Legg-Calvé-Perthes disease (LCPD) in Greece is presented. LCPD, a rare disease, is discussed using the Digital Atlas of Ancient Rare Diseases (DAARD), which tests the benefits of the database for diagnosing and contextualizing the new case with 42 archaeological cases of LCPD recorded in the DAARD.

Materials: A 30-40-year-old, probable male individual was found at the archaeological site of Olympia, Greece, dating to 500-700 CE.

The Digital Atlas of Ancient Rare Diseases (DAARD) and its relevance for current research.

Background: The history of rare diseases is largely unknown. Research on this topic has focused on individual cases of prominent (historical) individuals and artistic (e.g.

Assessing autosomal aneuploidy in ancient genomes.

Using genetic methods, aneuploidies can be detected in ancient human remains, which is so far the only way to reliably prove their existence in the past. As highlighted in recent studies by Rohrlach et al. and by Anastasiadou et al.

Activity induced worsening of a tuberculous process in the vertebral column of a Late Bronze Age female from Liushui, Xinjiang (China)?

The partial skeleton of a 22-24-year old female from Liushui, Southern Silk Road, Xinjiang (China) was analyzed using morphological and biochemical methods. The most striking finding in this individual of a Late Bronze Age mounted nomadic population was the complete ossification of the caudal vertebral column including parts of the ligaments of this region due to chronic tuberculosis (Pott's disease). The morphological diagnosis is definitely confirmed by the results of the proteomic analysis.

Threads of memory: Reviving the ornament of a dead child at the Neolithic village of Ba`ja (Jordan).

In 2018, a well-constructed cist-type grave was discovered at Ba`ja, a Neolithic village (7,400-6,800 BCE) in Southern Jordan. Underneath multiple grave layers, an 8-year-old child was buried in a fetal position. Over 2,500 beads were found on the chest and neck, along with a double perforated stone pendant and a delicately engraved mother-of-pearl ring discovered among the concentration of beads.

First osteological evidence of severed hands in Ancient Egypt.

For the first time, the severed right hands of 12 individuals have been analysed osteologically. The hands were deposited in three pits within a courtyard in front of the throne room of a 15th Dynasty (c.1640-1530 BC) Hyksos palace at Avaris/Tell el-Dab'a in north-eastern Egypt.

Isotopic and DNA analyses reveal multiscale PPNB mobility and migration across Southeastern Anatolia and the Southern Levant.

Growing reliance on animal and plant domestication in the Near East and beyond during the Pre-Pottery Neolithic B (PPNB) (the ninth to eighth millennium BC) has often been associated with a "revolutionary" social transformation from mobility toward more sedentary lifestyles. We are able to yield nuanced insights into the process of the Neolithization in the Near East based on a bioarchaeological approach integrating isotopic and archaeogenetic analyses on the bone remains recovered from Nevalı Çori, a site occupied from the early PPNB in Turkey where some of the earliest evidence of animal and plant domestication emerged, and from Ba'ja, a typical late PPNB site in Jordan. In addition, we present the archaeological sequence of Nevalı Çori together with newly generated radiocarbon dates.

Massive periostosis in a child from Neolithic Gebel es-Silsileh, Egypt.

In 2015 a surprising find of human bone fragments from a child was made in a collection of the Egyptian Museum and Papyrus Collection, Berlin. These bone fragments from Southern Egypt date to 3400-3300 BC and represent the distal parts of both femora and the proximal parts of both tibiae (bones around the knee joint). The bones have a specific appearance, probably indicating a systemic disease.

A critical review of the anthropological and paleopathological literature on osteopetrosis as an ancient rare disease (ARD).

Objective: A reappraisal of the available evidence of osteopetrosis in the archaeological record as first step in promoting new approaches to rare diseases in paleopathology.

Materials And Methods: Three different approaches are combined: a survey of the last 50 years of bioarchaeological publications; an online search addressing six of the more widely used search engines; macroscopic and radiographic analyses of the human remains from the Neolithic site of Palata 2 (Italy).

Results: The combined results of the literature survey and the online search identified six cases of osteopetrosis.

Ancient DNA analysis of rare genetic bone disorders.

Objective: Review of the current advancements in the field of paleogenetics that provide new opportunities in studying the evolution of rare genetic bone diseases.

Material And Methods: Based on cases from the literature, the genetics of rare bone diseases will be introduced and the main methodological issues will be addressed, focusing on the opportunities presented by the application of aDNA analyses in the field of paleopathology.

Results: Medical literature provides large datasets on the genes responsible for rare bone disorders.

How rare is rare? A literature survey of the last 45 years of paleopathological research on ancient rare diseases.

Objective: This paper aims to provide a quantitative estimation of the representation of diseases defined as rare today in the bioarchaeological literature and to outline the reasons for this.

Materials: A 45-year bibliometric study of publications in seven bioarchaeological journals, along with two journals and editorial groups of broader scientific focus.

Methods: Analyses of distribution patterns of the search hits and diachronic trends for achondroplasia, autosomal-dominant osteopetrosis, osteogenesis imperfecta, and osteopoikilosis, compared to those for tuberculosis as control measure of coverage.

Towards a definition of Ancient Rare Diseases (ARD): Presenting a complex case of probable Legg-Calvé-Perthes Disease from the North Caucasian Bronze Age (2200-1650 cal BCE).

Objective: This study discusses the challenges and possibilities of establishing a definition for Ancient Rare Diseases (ARD) in a probable case of Legg-Calvé-Perthes Disease (LCPD) from the Bronze Age cemetery Kudachurt 14, situated in the Northern Caucasus.

Materials: We investigated the skeletal remains of a male aged 35-45 years at death. For comparison we examined other males buried at Kudachurt 14 (n = 24) and reviewed 22 LCPD cases from the paleopathological literature.

Fibro-osseous processes (FOPs) of the craniofacial skeleton: A neglected entity in paleopathology?

Discrete, small, roundish lesions of localized porous bone can be occasionally seen in the craniofacial skeleton. Such lesions are rarely mentioned and only occur as an incidental discovery being assigned to plenty of diagnoses. As an example, such multiple small lesions of the facial skeleton in a well-preserved skeleton of a 40-60 year old male of the Hunno-Sarmatian Period from Kazakhstan, are discussed.

Diet and subsistence in Bronze Age pastoral communities from the southern Russian steppes and the North Caucasus.

The flanks of the Caucasus Mountains and the steppe landscape to their north offered highly productive grasslands for Bronze Age herders and their flocks of sheep, goat, and cattle. While the archaeological evidence points to a largely pastoral lifestyle, knowledge regarding the general composition of human diets and their variation across landscapes and during the different phases of the Bronze Age is still restricted. Human and animal skeletal remains from the burial mounds that dominate the archaeological landscape and their stable isotope compositions are major sources of dietary information.

Burying power: New insights into incipient leadership in the Late Pre-Pottery Neolithic from an outstanding burial at Ba'ja, southern Jordan.

In 2016, an extraordinary burial of a young adult individual was discovered at the Late Pre-Pottery Neolithic B (LPPNB, 7,500-6,900 BCE) settlement of Ba'ja in southern Jordan. This burial has exceptional grave goods and an elaborate grave construction. It suggests discussing anew reconstructions of early Neolithic social structures.

Late Pleistocene human genome suggests a local origin for the first farmers of central Anatolia.

Anatolia was home to some of the earliest farming communities. It has been long debated whether a migration of farming groups introduced agriculture to central Anatolia. Here, we report the first genome-wide data from a 15,000-year-old Anatolian hunter-gatherer and from seven Anatolian and Levantine early farmers.

Ancient human genome-wide data from a 3000-year interval in the Caucasus corresponds with eco-geographic regions.

Archaeogenetic studies have described the formation of Eurasian 'steppe ancestry' as a mixture of Eastern and Caucasus hunter-gatherers. However, it remains unclear when and where this ancestry arose and whether it was related to a horizon of cultural innovations in the 4 millennium BCE that subsequently facilitated the advance of pastoral societies in Eurasia. Here we generated genome-wide SNP data from 45 prehistoric individuals along a 3000-year temporal transect in the North Caucasus.

Benign fibro-osseous lesion of the mandible in a Middle Bronze Age skeleton from Southern Russia.

A discrete dysplastic lesion of the mandible found in a skeleton of a young adult male of the Middle Bronze Age in the Northern Caucasus/Russia is described. The periapical lesion of the right lower canine alveolus was examined by digital microscopy, plain radiology, and plain and polarizing microscopy. Its macroscopic, radiologic and microscopic characteristics are discussed in reference to different fibro-osseous lesions arising from the odontogenic apparatus and maxillofacial skeleton.

Language continuity despite population replacement in Remote Oceania.

Recent genomic analyses show that the earliest peoples reaching Remote Oceania-associated with Austronesian-speaking Lapita culture-were almost completely East Asian, without detectable Papuan ancestry. However, Papuan-related genetic ancestry is found across present-day Pacific populations, indicating that peoples from Near Oceania have played a significant, but largely unknown, ancestral role. Here, new genome-wide data from 19 ancient South Pacific individuals provide direct evidence of a so-far undescribed Papuan expansion into Remote Oceania starting ~2,500 yr BP, far earlier than previously estimated and supporting a model from historical linguistics.

Modified human crania from Göbekli Tepe provide evidence for a new form of Neolithic skull cult.

Archaeological excavations at Göbekli Tepe, a transitional Neolithic site in southeast Turkey, have revealed the earliest megalithic ritual architecture with characteristic T-shaped pillars. Although human burials are still absent from the site, a number of fragmented human bones have been recovered from fill deposits of buildings and from adjacent areas. We focus on three partially preserved human skulls, all of which carry artificial modifications of a type so far unknown from contemporaneous sites and the ethnographic record.

New cases of trepanations from the 5th to 3rd millennia BC in Southern Russia in the context of previous research: Possible evidence for a ritually motivated tradition of cranial surgery?

Objectives: It is a big challenge to diagnose the motives behind trepanations in prehistoric crania. Surgical-therapeutic attempts may be apparent by the presence of fractures, however, ritual or nonmedical motives are rarely supported by visible evidence in the bones. This article presents data on the trepanations of several individuals from South Russia dating to the Eneolitic and Bronze Age that may indicate a ritual procedure.

Differential diagnosis of a fused wrist with a partially destroyed capitate from Kazakhstan (1st-3rd century AD).

We discuss here the differential diagnosis of carpal ankylosis along with the second and third metacarpals of the right hand in an adult male skeleton buried in a kurgan from Mayemer, Kazakhstan (86-242 AD, 95.4% cal.).

Radiocarbon-dated archaeological record of early first millennium B.C. mounted pastoralists in the Kunlun Mountains, China.

Pastoral nomadism, as a successful economic and social system drawing on mobile herding, long-distance trade, and cavalry warfare, affected all polities of the Eurasian continent. The role that arid Inner Asia, particularly the areas of northwestern China, Kazakhstan, and Mongolia, played in the emergence of this phenomenon remains a fundamental and still challenging question in prehistoric archaeology of the Eurasian steppes. The cemetery of Liushiu (Xinjiang, China) reveals burial features, bronze bridle bits, weaponry, adornment, horse skulls, and sheep/goat bones, which, together with paleopathological changes in human skeletons, indicate the presence of mobile pastoralists and their flocks at summer pastures in the Kunlun Mountains, ∼2,850 m above sea level.