Congruency of Genetic Predisposition to Lactase Persistence and Lactose Breath Test.

The physiological decline of lactase production in adulthood, in some individuals, is responsible for the so-called "Lactose Intolerance." This clinical syndrome presents with gastrointestinal and non-gastrointestinal symptoms following the consumption of dairy containing food. Lactose intolerance can be evaluated by means of the Lactose Breath Test (phenotype) and/or genetic evaluation of lactase-gene polymorphism (genotype). A comparison of the two tests was carried out in a large number of symptomatic adult subjects, which are selected and not representative of the general population. Congruency was as high as 88.6%. Among lactase non-persistent (genotype C/C), 14 subjects showed a negative Lactose Breath Test (LBT), possibly due to young age. Among lactase-persistent (genotype C/T), four subjects showed a positive LBT, which helps to diagnose secondary lactose intolerance. Symptoms, both gastrointestinal and extra-gastrointestinal, were reported by 90% of patients during the breath test. Clinical use of both tests in the same patients could be taken into consideration as a sharp diagnostic tool. We suggest considering the use of the genetic test after LBT administration, when secondary hypolactasia is suspected, for completion of diagnostic procedures.

New insights on Final Epigravettian funerary behavior at Arene Candide Cave (Western Liguria, Italy).

We gained new insights on Epigravettian funerary behavior at the Arene Candide cave through the osteological and spatial analysis of the burials and human bone accumulations found in the cave during past excavations. Archaeothanathological information on the human skeletal remains was recovered from diaries, field pictures and notes, and data from recent excavations was integrated. The secondary deposits have traditionally been interpreted as older burials that were disturbed to make space for new inhumations. Our results suggest that those disturbances were not casual: older burials were intentionally displaced to bury younger inhumations. Subsequently, some skeletal elements, especially crania, were arranged around the new burial; these were often placed within stone niches. Based on the composition of some clusters, which contain the bones of two individuals displaced together, it is possible that a double burial composed of two adults was originally present at the site. This would be a burial type that had not been recognized at Arene Candide until now. Strikingly, this potential double burial contained an individual showing pathological bowing of the limbs, a finding which is not infrequent in skeletons from Gravettian and Epigravettian multiple burials. In addition, the crania and other skeletal elements derived from this burial were intentionally placed around a new inhumation, whose skeleton possibly shows a milder form of the same disease (possibly hereditary rickets). This and other observations suggest that the five individuals belonging to the second phase of this "cemetery" (AMS dates spanning 12,030 -11,180 cal BP) might have been buried over a relatively brief time span. Our study demonstrated similar behaviors in the first phase of mortuary use of the cave (12,820-12,420 cal BP), indicating a remarkable persistence in Final Epigravettian funerary models despite their archaeologically apparent rarity and intermittent nature.

Tall guys and fat ladies: Grimaldi's Upper Paleolithic burials and figurines in an historical perspective.

The importance of the Grimaldi complex of caves and rock shelters is twofold: scientific and historical. Scientifically, it is one of the major Upper Paleolithic sites, considering the variety of mobiliary and parietal art, the number of single and multiple burials and associated grave goods, and the abundant lithic and fauna remains. Historically, the documentation of activity that took place in this site starting from the second half of the 19 th century and the studies carried out on the materials that have been recovered in the decades between 1870s-1910s, provide instructive examples of methods and goals of Paleolithic archeology and anthropology of the epoch. This paper combines the scientific and the historic interest of the site through a chronicle of the events that took place during the period of the most sensational discoveries, i.e. beginning with the identification in 1872 of the first Upper Paleolithic burial and ending with the results of the excavations carried out in 1901 at Grotte des Enfants published in four volumes a few years later. The paper discusses early interpretations and modern views on the different findings and documents changes in perspectives and goals of paleoanthropological research in over a century, raising some of the major issues of contemporary Upper Paleolithic studies.

Hunters of the Ice Age: The biology of Upper Paleolithic people.

The Upper Paleolithic represents both the phase during which anatomically modern humans appeared and the climax of hunter-gatherer cultures. Demographic expansion into new areas that took place during this period and the diffusion of burial practices resulted in an unprecedented number of well-preserved human remains. This skeletal record, dovetailed with archeological, environmental, and chronological contexts, allows testing of hypotheses regarding biological processes at the population level. In this article, we review key studies about the biology of Upper Paleolithic populations based primarily on European samples, but integrating information from other areas of the Old World whenever possible. Data about cranial morphology, skeletal robusticity, stature, body proportions, health status, diet, physical activity, and genetics are evaluated in Late Pleistocene climatic and cultural contexts. Various lines of evidence delineate the Last Glacial Maximum (LGM) as a critical phase in the biological and cultural evolution of Upper Paleolithic populations. The LGM, a long phase of climatic deterioration culminating around 20,000 BP, had a profound impact on the environment, lifestyle, and behavior of human groups. Some of these effects are recorded in aspects of skeletal biology of these populations. Groups living before and after the LGM, Early Upper Paleolithic (EUP) and Late Upper Paleolithic (LUP), respectively, differ significantly in craniofacial dimensions, stature, robusticity, and body proportions. While paleopathological and stable isotope data suggest good health status throughout the Upper Paleolithic, some stress indicators point to a slight decline in quality of life in LUP populations. The intriguing and unexpected incidence of individuals affected by congenital disorders probably indicates selective burial practices for these abnormal individuals. While some of the changes observed can be explained through models of biocultural or environmental adaptation (e.g., decreased lower limb robusticity following decreased mobility; changes in body proportions along with climatic change), others are more difficult to explain. For instance, craniodental and upper limb robusticity show complex evolutionary patterns that do not always correspond to expectations. In addition, the marked decline in stature and the mosaic nature of change in body proportions still await clarifications. These issues, as well as systematic analysis of specific pathologies and possible relationships between genetic lineages, population movements and cultural complexes, should be among the goals of future research.

The Late Upper Paleolithic skeleton Villabruna 1 (Italy): a source of data on biology and behavior of a 14,000 year-old hunter.

The Late Upper Paleolithic burial Villabruna 1 (Val Cismon, Belluno, Italy), directly dated to about 14,000 years ago (calibrated chronology), includes a well preserved skeleton accompanied by grave goods and covered with painted stones. The skeleton belongs to an adult male, about twenty-five years old, characterized by a relatively tall stature for the time period, short trunk and more linear body proportions than its contemporaries, similar to those of recent North-African populations. Multivariate statistical analysis of craniofacial characteristics place Villabruna 1 close to Le Bichon 1, a geographically and chronologically nearby specimen, suggesting genetic affinity among the last hunter and gatherers from the alpine region. Observations on dental wear and microwear indicate that the anterior dentition was involved in non-alimentary activities such as the mastication of fibrous materials including large abrasive contaminants. Whereas the information on dietary habits drawn from dental wear is not conclusive, stable isotopes analysis points to a terrestrially based diet rich in animal proteins. Biomechanical study of major long bones indicates heightened overall robusticity and marked humeral asymmetry. These results suggest intense unimanual activity, possibly linked to repeated throwing movements in hunting, and the combined effect of mobile lifestyle and mountainous terrain, as far as the femur is concerned. Paleopathological analysis did not reveal signs of any major event which might help identify a possible cause of death. However, macroscopic and radiographic examination of the skull reveals traces of porotic hyperostosis, indicative of a healed anemic condition. Finally, localized tibial periostitis, probably of traumatic origin, and lumbar hyperlordosis associated with deformations of vertebral bodies and L5 spondylolysis provide evidence of additional, minor, pathological changes.

Biomechanical approach to the reconstruction of activity patterns in Neolithic Western Liguria, Italy.

This paper investigates the changes in upper and lower limb robusticity and activity patterns that accompanied the transition to a Neolithic subsistence in western Liguria (Italy). Diaphyseal robusticity measures were obtained from cross-sectional geometric properties of the humerus and femur in a sample of 16 individuals (eight males and eight females) dated to about 6,000-5,500 BP. Comparisons with European Late Upper Paleolithics (LUP) indicate increased humeral robusticity in Neolithic Ligurian (NEOL) males, but not in females, with a significant reduction in right-left differences in both sexes. Sexual dimorphism in robusticity increases in upper and lower limb bones. Regarding the femur, while all female indicators of bending strength decrease steadily through time, values for NEOL males approach those of LUP. This suggests high, and unexpected, levels of mechanical stress for NEOL males, probably reflecting the effects of the mountainous terrain on lower limb remodeling. Comparisons between NEOL males and a small sample of LUP hunter-gatherers from the same area support this interpretation. In conclusion, cross-sectional geometry data indicate that the transition to Neolithic economies in western Liguria did not reduce functional requirements in males, and suggest a marked sexual division of labor involving a more symmetrical use of the upper limb, and different male-female levels of locomotory stress. When articulated with archaeological, faunal, paleopathological, and ethnographic evidence, these results support the hypothesis of repetitive, bimanual use of axes tied to pastoral activities in males, and of more sedentary tasks linked to agriculture in females.

Double child burial from Sunghir (Russia): pathology and inferences for upper paleolithic funerary practices.

The double child burial from Sunghir (Russia) is a spectacular Mid Upper Palaeolithic funerary example dated to about 24,000 BP. A boy (Sunghir 2) and a girl (Sunghir 3), about 12-13 and 9-10 years old, respectively, were buried at the same time, head to head, covered by red ocher and ornamented with extraordinarily rich grave goods. Examination of the two skeletons reveals that the Sunghir 3 femora are short and exhibit marked antero-posterior bowing. The two femora do not show any asymmetry in the degree of shortening and bowing. Bowing affects the whole diaphysis and shows a regularly incurved profile, with the highest point at midshaft. Pathology is confined to the femora, and no other part of this well-preserved specimen shows abnormality. The isolated nature of the Sunghir 3 anomalies points to cases reported in the medical literature under the label of "congenital bowing of long bones" (CBLB). These are a group of rare conditions exhibiting localized, sometimes bilateral, bowing and shortening which are nonspecific and may result from different causes, including abnormalities of the primary cartilaginous anlage (i.e., the aggregation of cells representing the first trace of an organ). Localized ossification disturbances, possibly linked to a diabetic maternal condition, might explain the shortening and the coincidence of maximum midshaft curvature with the position of the primary ossification center, as well as the lack of involvement of other skeletal parts. This scenario, rather than other possibilities (early bilateral midshaft fracture, acute plastic bowing deformities, or faulty fetal posture), provides the most likely explanation for the Sunghir 3 femoral deformities. The intriguing combination of a pathological condition apparent since birth with a spectacular burial of unusually positioned young individuals of different sexes recalls significant aspects of the triple burial from the contemporary site of Dolní Vestonice (Moravia), evoking a patterned relationship between physical abnormality and extraordinary Upper Paleolithic funerary behavior.