Ecosystem engineering in the Quaternary of the West Coast of South Africa.

Despite advances in our understanding of the geographic and temporal scope of the Paleolithic record, we know remarkably little about the evolutionary and ecological consequences of changes in human behavior. Recent inquiries suggest that human evolution reflects a long history of interconnections between the behavior of humans and their surrounding ecosystems (e.g., niche construction). Developing expectations to identify such phenomena is remarkably difficult because it requires understanding the multi-generational impacts of changes in behavior. These long-term dynamics require insights into the emergent phenomena that alter selective pressures over longer time periods which are not possible to observe, and are also not intuitive based on observations derived from ethnographic time scales. Generative models show promise for probing these potentially unexpected consequences of human-environment interaction. Changes in the uses of landscapes may have long term implications for the environments that hominins occupied. We explore other potential proxies of behavior and examine how modeling may provide expectations for a variety of phenomena.

An European overview of genetic counselling supervision provision.

Genetic testing is becoming more commonplace in general and specialist health care, and should always be accompanied by genetic counselling, according to legislation in many European countries and recommendations by professional bodies. Personal and professional competence is necessary to provide safe and effective genetic counselling. Clinical and counselling supervision of genetics healthcare practitioners plays a key role in quality assurance, providing a safe environment not only for patients but for professionals too. However, in many European countries, genetic counsellors are still an emerging professional group and counselling supervision is not routinely offered and there are no enough evidences on the impact of these insufficiencies. This study aimed to explore the current status of genetic counselling supervision provision across Europe and to ascertain factors that might be relevant for the successful implementation of counselling supervision. A total of 100 practitioners responded to an online survey; respondents were from 18 countries, with the majority working in France (27%) and Spain (17%). Only 34 participants reported having access to genetic counselling supervision. Country of origin, the existence of a regulation system and years of experience were factors identified as relevant, influencing access and characteristics of counselling supervision. Although there is a growing number of genetic counsellors trained at European level, just a few countries have implemented and required as mandatory the access to genetic counselling supervision. Nevertheless, this is essential to ensure a safe and effective genetic counselling and should be regulated at the European genetic healthcare services.

Fire and grass-bedding construction 200 thousand years ago at Border Cave, South Africa.

Early plant use is seldom described in the archaeological record because of poor preservation. We report the discovery of grass bedding used to create comfortable areas for sleeping and working by people who lived in Border Cave at least 200,000 years ago. Sheaves of grass belonging to the broad-leafed Panicoideae subfamily were placed near the back of the cave on ash layers that were often remnants of bedding burned for site maintenance. This strategy is one forerunner of more-complex behavior that is archaeologically discernible from ~100,000 years ago.

Phytoliths as an indicator of early modern humans plant gathering strategies, fire fuel and site occupation intensity during the Middle Stone Age at Pinnacle Point 5-6 (south coast, South Africa).

The study of plant remains in archaeological sites, along with a better understanding of the use of plants by prehistoric populations, can help us shed light on changes in survival strategies of hunter-gatherers and consequent impacts on modern human cognition, social organization, and technology. The archaeological locality of Pinnacle Point (Mossel Bay, South Africa) includes a series of coastal caves, rock-shelters, and open-air sites with human occupations spanning the Acheulian through Middle Stone Age (MSA) and Later Stone Age (LSA). These sites have provided some of the earliest evidence for complex human behaviour and technology during the MSA. We used phytoliths-amorphous silica particles that are deposited in cells of plants-as a proxy for the reconstruction of past human plant foraging strategies on the south coast of South Africa during the Middle and Late Pleistocene, emphasizing the use and control of fire as well as other possible plant uses. We analysed sediment samples from the different occupation periods at the rock shelter Pinnacle Point 5-6 North (PP5-6N). We also present an overview of the taphonomic processes affecting phytolith preservation in this site that will be critical to conduct a more reliable interpretation of the original plant use in the rock shelter. Our study reports the first evidence of the intentional gathering and introduction into living areas of plants from the Restionaceae family by MSA hunter-gatherers inhabiting the south coast of South Africa. We suggest that humans inhabiting Pinnacle Point during short-term occupation events during Marine Isotope Stage (MIS) 5 built fast fires using mainly grasses with some wood from trees and/or shrubs for specific purposes, perhaps for shellfish cooking. With the onset of MIS 4 we observed a change in the plant gathering strategies towards the intentional and intensive exploitation of dry wood to improve, we hypothesise, combustion for heating silcrete. This human behaviour is associated with changes in stone tool technology, site occupation intensity and climate change.

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

PURPOSE: Few and small studies have been reported about multigene testing usage by massively parallel sequencing in European cancer families. There is an open debate about what genes should be tested, and the actionability of some included genes is under research. METHODS: We investigated a panel of 34 known high/moderate-risk cancer genes, including 16 related to breast or ovarian cancer (BC/OC) genes, and 63 candidate genes to BC/OC in 192 clinically suspicious of hereditary breast/ovarian cancer (HBOC) Spanish families without pathogenic variants in BRCA1 or BRCA2 (BRCA1/2). RESULTS: We identified 16 patients who carried a high- or moderate-risk pathogenic variant in eight genes: 4 PALB2, 3 ATM, 2 RAD51D, 2 TP53, 2 APC, 1 BRIP1, 1 PTEN and 1 PMS2. These findings led to increased surveillance or prevention options in 12 patients and predictive testing in their family members. We detected 383 unique variants of uncertain significance in known cancer genes, of which 35 were prioritized in silico. Eighteen loss-of-function variants were detected in candidate BC/OC genes in 17 patients (1 BARD1, 1 ERCC3, 1 ERCC5, 2 FANCE, 1 FANCI, 2 FANCL, 1 FANCM, 1 MCPH1, 1 PPM1D, 2 RBBP8, 3 RECQL4 and 1 with SLX4 and XRCC2), three of which also carry pathogenic variants in known cancer genes. CONCLUSIONS: Eight percent of the BRCA1/2 negative patients carry pathogenic variants in other actionable genes. The multigene panel usage improves the diagnostic yield in HBOC testing and it is an effective tool to identify potentially new candidate genes.

Prevalence of obesity recorded in Primary Care.

OBJECTIVE: To ascertain the prevalence of obesity and overweight recording in primary care (PC) clinical records. DESIGN: A descriptive, cross-sectional study. SETTING: The study was conducted in three urban, primary care centers in Gipuzkoa. PARTICIPANTS: 620 computerized clinical records randomly selected from a population of 63,820. Patient age older than 14 years was the only inclusion criterion. MAIN MEASUREMENTS: Recording of the clinical episode referring to obesity and/or overweight. Other variables included age, sex, body mass index (BMI), waist circumference, comorbidity (diabetes, hypertension, heart failure, among others), and variability of the record made by healthcre professionals at each center. Statistical analysis included a Chi-square test or a Fisher's test for low frequencies. A value of P<.05 was considered significant. Analysis was performed using SPSS(®) v.21 software. RESULTS: Prevalence of recorded obesity was 6%, and 78.4% of those with recorded obesity were women. Overweight was recorded in 3% of subjects, of which 33.2% were women. BMI was recorded in 170 cases (27%). At least one comorbidity was found in 241 subjects (39%). Association of BMI with presence of comorbidity was statistically significant (P=.0001). Recording of obesity was associated to presence of comorbidity (P =.0002). CONCLUSIONS: This study confirmed that prevalence of obesity is underestimated, mainly because it is inadequately recorded in clinical histories; that prevalence increases in the presence of other risk factors; and that there is a significant variability in data collection between healthcare professionals.