Initial Upper Palaeolithic humans in Europe had recent Neanderthal ancestry

Modern humans appeared in Europe by at least 45,000 years ago1–5, but the extent of their interactions with Neanderthals, who disappeared by about 40,000 years ago6, and their relationship to the broader expansion of modern humans outside Africa are poorly understood. Here we present genome-wide data from three individuals dated to between 45,930 and 42,580 years ago from Bacho Kiro Cave, Bulgaria1,2. They are the earliest Late Pleistocene modern humans known to have been recovered in Europe so far, and were found in association with an Initial Upper Palaeolithic artefact assemblage. Unlike two previously studied individuals of similar ages from Romania7 and Siberia8 who did not contribute detectably to later populations, these individuals are more closely related to present-day and ancient populations in East Asia and the Americas than to later west Eurasian populations. This indicates that they belonged to a modern human migration into Europe that was not previously known from the genetic record, and provides evidence that there was at least some continuity between the earliest modern humans in Europe and later people in Eurasia. Moreover, we find that all three individuals had Neanderthal ancestors a few generations back in their family history, confirming that the first European modern humans mixed with Neanderthals and suggesting that such mixing could have been common

Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) founder mutation : clues from haplotyping of short tandem repeats on Chromosome 17p

Rare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) is found in about 0.3% of the population of Southern Brazil. This mutation is associated with partially penetrant LFS traits and is found in the germline of patients with early cancers of the LFS spectrum unselected for familial his- tory. To characterize the extended haplotypes carrying the mutation, we have genotyped 9 short tandem repeats on chromosome 17p in 12 trios of Brazilian p.Arg337His carriers. Results confirm that all share a common ancestor haplotype of Caucasian/Portuguese-Ibe- ric origin, distant in about 72–84 generations (2000 years assuming a 25 years intergenera- tional distance) and thus pre-dating European migration to Brazil. So far, the founder p. Arg337His haplotype has not been detected outside Brazil, with the exception of two resi- dents of Portugal, one of them of Brazilian origin. On the other hand, increased meiotic recombination in p.Arg337His carriers may account for higher than expected haplotype diversity. Further studies comparing haplotypes in populations of Brazil and of other areas of Portuguese migration are needed to understand the historical context of this mutation in Brazil.This study was funded by grant # 478430/2012-4 from CNPq (RFA MCT/CNPq - No 14/2012; Universal), Brazil.We would like to thank UFRGS, UFPA, AC Camargo, HC Barretos and University of Minho for their support during this work

Quality of life and social support of the patients of continued care units of Algarve

This study assessed the relations between quality of life and social support network of patients in continuing care units in Algarve, using WHOQOL-BREF and ASSIS. Participants were 92 users of ages between 34-101 years: very elderly (40.2%), female (58.7%), widows (40.2%), upper-middle class (46.8%), cohabiting with spouse (43.2%), and partly dependent (72.5%). Emotional, tangible and informational support networks were mainly composed by family. We found significant associations between informative social support and physical domains, social relations and environment of quality of life (p< 0.05). The results suggest middle levels in self-perception and satisfaction with health, and lower levels in physical domain. Informational support needs were negatively associated with psychological and social relations dimensions of quality of life

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke

We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episod

Quality of life of older adults in Canada and Brazil

In this study, we examined the factors contributing to quality of life (QOL) of older adults in regions of Canada and Brazil. the WHOQOL-BREF and a demographic data sheet were administered to random samples of 202 older adults from Canada and 288 from Brazil. Ratings on overall QOL and on the physical, psychological, and environmental domains were higher in the Canadian sample. Social domain scores were not significantly different. the authors found the same pattern of factors (health satisfaction, enough money, meaning in life, and opportunities for leisure activities) contributed to the variance of QOL in both countries, except for physical environment, which was significant in Brazil and not in Canada. Health satisfaction was the strongest contributor to QOL in both samples, and satisfaction with personal relationships was not significant in either country.Universidade Federal de São Paulo, São Paulo, BrazilUniv Victoria, Victoria, BC V8W 2Y2, CanadaUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc