Spondylolysis in the past: A case study of hunter-gatherers from Southern Patagonia.

Spondylolysis is a fracture of the pars interarticularis, the portion of the neural arch that lies between the superior articular facets and the inferior articular facets. Clinical evidence has suggested repetitive trauma to be the most probable cause, even though morphological weakness of the vertebra is probably also involved. Prevalence is between 3% and 8% in modern populations, while in archaeological samples it varies from 0% to 71.4%. Considering that very little data about this condition is available in past populations from the southern extreme of South America, the aim of this paper is to analyze the spondylolysis in a human skeletal sample from Southern Patagonia and, at the same time, to explore the prevalence of spondylolysis in archaeological contexts around the world to gain a better understanding of the results presented here. The Southern Patagonian skeletal series analyzed here showed a prevalence of 20%, with lower prevalence in the pre contact sample (11.1%) than in the contact period (23.1%). Skeletons from the Salesian Mission "Nuestra Señora de La Candelaria" showed a higher prevalence (25%) than the sample of skeletal remains recovered from outside the mission (20%), suggesting that changes in lifestyle of hunter-gatherers during contact could be implicated in the development of spondylolysis in this sample. A worldwide survey displays a wide range of prevalence figures in American and Asian samples and low diversity between African and European populations. Hunter-gatherers from Southern Patagonia showed similar values to those observed in other American samples.

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic Hedgehog ( SHH ) as a cause for HPE. We have now performed mutational analysis of the complete coding region and intron-exon junctions of the SHH gene in 344 unrelated affected individuals. Herein, we describe 13 additional unrelated affected individuals with SHH mutations, including nonsense and missense mutations, deletions and an insertion. These mutations occur throughout the extent of the gene. No specific genotype-phenotype association is evident based on the correlation of the type or position of the mutations. In conjunction with our previous studies, we have identified a total of 23 mutations in 344 unrelated cases of HPE. They account for 14 cases of familial HPE and nine cases of sporadic HPE. Mutations in SHH were detected in 10 of 27 (37%) families showing autosomal dominant transmission of the HPE spectrum, based on structural anomalies. Interestingly, three of the patients with an SHH mutation also had abnormalities in another gene that is expressed during forebrain development. We suggest that the interactions of multiple gene products and/or environmental elements may determine the final phenotypic outcome for a given individual and that variations among these factors may cause the wide variability in the clinical features seen in HPE.