Characteristics of a Family with the MEN-2A Syndrome

Results of screening and follow-up in a family with the MEN-2A syndrome are described. Fourteen (83%) subjects at risk were affected with medullary thyroid carcinoma (MTC). Asymptomatic pheochromocytoma and parathyroid hyperplasia were found in two instances each. Intrathyroidal MTC without metastases was found in the four youngest subjects and was associated with normal basal but abnormal pentagastrin-stimulated calcitonin (CT) levels. In the ten subjects with abnormal basal CT levels, metastatic spread to at least regional lymph nodes was found. In eight of these ten subjects, total thyroidectomy with excision of affected lymph nodes and additional radioiodine did not return CT levels to normal postoperatively. In the other two subjects, the CT levels returned to normal after thyroidectomy and an ablative dose of radioiodine, and remained normal during follow-up. This study confirms the view that family screening at a young age promotes the detection of MTC at a curable stage. Radioiodine as an adjunct to surgery may be of value in the prevention of tumor recurrence in patients with normal postoperative CT levels but residual thyroid tissue

Optimized bone sampling protocols for the retrieval of ancient DNA from archaeological remains

The methods presented here seek to maximize the chances for the recovery of human DNA from ancient archaeological remains while limiting input sample material. This was done by targeting anatomical sampling locations previously determined to yield the highest amounts of ancient DNA (aDNA) in a comparative analysis of DNA recovery across the skeleton. Prior research has suggested that these protocols maximize the chances for the successful recovery of ancient human and pathogen DNA from archaeological remains. DNA yields were previously assessed by Parker et al. 2020 in a broad survey of aDNA preservation across multiple skeletal elements from 11 individuals recovered from the medieval (radiocarbon dated to a period of circa (ca.) 1040-1400 CE, calibrated 2-sigma range) graveyard at Krakauer Berg, an abandoned medieval settlement near Peißen Germany. These eight sampling spots, which span five skeletal elements (pars petrosa, permanent molars, thoracic vertebra, distal phalanx, and talus) successfully yielded high-quality ancient human DNA, where yields were significantly greater than the overall average across all elements and individuals. Yields were adequate for use in most common downstream population genetic analyses. Our results support the preferential use of these anatomical sampling locations for most studies involving the analyses of ancient human DNA from archaeological remains. Implementation of these methods will help to minimize the destruction of precious archaeological specimens.Introduction Protocol 1. Considerations before sample processing 2. Pretreatment 3. Bone powder generation Representative Results Discussio

Healthy ageing and home: The perspectives of very old people in five European countries

This paper reports on in-depth research, using a grounded theory approach, to examine the ways in which very old people perceive healthy ageing in the context of living alone at home within urban settings in five European countries. This qualitative study was part of a cross-national project entitled ENABLE-AGE which examined the relationship between home and healthy ageing. Interviews explored the notion of healthy ageing, the meaning and importance of home, conceptualisations of independence and autonomy and links between healthy ageing and home. Data analysis identified five ways in which older people constructed healthy ageing: home and keeping active; managing lifestyles, health and illness; balancing social life; and balancing material and financial circumstances. Older people reflected on their everyday lives at home in terms of being engaged in purposeful, meaningful action and evaluated healthy ageing in relation to the symbolic and practical affordances of the home, contextualised within constructions of their national context. The research suggests that older people perceive healthy ageing as an active achievement, created through individual, personal effort and supported through social ties despite the health, financial and social decline associated with growing older. The physicality and spatiality of home provided the context for establishing and evaluating the notion of healthy ageing, whilst the experienced relationship between home, life history and identity created a meaningful space within which healthy ageing was negotiated

Linking cortical visual processing to viewing behavior using fMRI

One characteristic of natural visual behavior in humans is the frequent shifting of eye position. It has been argued that the characteristics of these eye movements can be used to distinguish between distinct modes of visual processing (Unema et al., 2005). These viewing modes would be distinguishable on the basis of the eye-movement parameters fixation duration and saccade amplitude and have been hypothesized to reflect the differential involvement of dorsal and ventral systems in saccade planning and information processing. According to this hypothesis, on the one hand, while in a “pre-attentive” or ambient mode, primarily scanning eye movements are made; in this mode fixation are relatively brief and saccades tends to be relatively large. On the other hand, in “attentive” focal mode, fixations last longer and saccades are relatively small, and result in viewing behavior which could be described as detailed inspection. Thus far, no neuroscientific basis exists to support the idea that such distinct viewing modes are indeed linked to processing in distinct cortical regions. Here, we used fixation-based event-related (FIBER) fMRI in combination with independent component analysis (ICA) to investigate the neural correlates of these viewing modes. While we find robust eye-movement-related activations, our results do not support the theory that the above mentioned viewing modes modulate dorsal and ventral processing. Instead, further analyses revealed that eye-movement characteristics such as saccade amplitude and fixation duration did differentially modulate activity in three clusters in early, ventromedial and ventrolateral visual cortex. In summary, we conclude that evaluating viewing behavior is crucial for unraveling cortical processing in natural vision

Population history from the Neolithic to present on the Mediterranean island of Sardinia: an ancient DNA perspective

Recent ancient DNA studies of western Eurasia have revealed a dynamic history of admixture, with evidence for major migrations during the Neolithic and Bronze Age. The population of the Mediterranean island of Sardinia has been notable in these studies –} Neolithic individuals from mainland Europe cluster more closely with Sardinian individuals than with all other present-day Europeans. The current model to explain this result is that Sardinia received an initial influx of Neolithic ancestry and then remained relatively isolated from expansions in the later Neolithic and Bronze Age that took place in continental Europe. To test this model, we generated genome-wide capture data (approximately 1.2 million variants) for 43 ancient Sardinian individuals spanning the Neolithic through the Bronze Age, including individuals from Sardinia{’}s Nuragic culture, which is known for the construction of numerous large stone towers throughout the island. We analyze these new samples in the context of previously generated genome-wide ancient DNA data from 972 ancient individuals across western Eurasia and whole-genome sequence data from approximately 1,500 modern individuals from Sardinia. The ancient Sardinian individuals show a strong affinity to western Mediterranean Neolithic populations and we infer a high degree of genetic continuity on the island from the Neolithic (around fifth millennium BCE) through the Nuragic period (second millennium BCE). In particular, during the Bronze Age in Sardinia, we do not find significant levels of the {“}Steppe{” ancestry that was spreading in many other parts of Europe at that time. We also characterize subsequent genetic influx between the Nuragic period and the present. We detect novel, modest signals of admixture between 1,000 BCE and present-day, from ancestry sources in the eastern and northern Mediterranean. Within Sardinia, we confirm that populations from the more geographically isolated mountainous provinces have experienced elevated levels of genetic drift and that northern and southwestern regions of the island received more gene flow from outside Sardinia. Overall, our genetic analysis sheds new light on the origin of Neolithic settlement on Sardinia, reinforces models of genetic continuity on the island, and provides enhanced power to detect post-Bronze-Age gene flow. Together, these findings offer a refined demographic model for future medical genetic studies in Sardinia

Three-Body and One-Body Channels of the Auger Core-Valence-Valence decay: Simplified Approach

We propose a computationally simple model of Auger and APECS line shapes from open-band solids. Part of the intensity comes from the decay of unscreened core-holes and is obtained by the two-body Green's function $G^{(2)}_{\omega}$, as in the case of filled bands. The rest of the intensity arises from screened core-holes and is derived using a variational description of the relaxed ground state; this involves the two-holes-one-electron propagator $G_{\omega}$, which also contains one-hole contributions. For many transition metals, the two-hole Green's function $G^{(2)}_{\omega}$ can be well described by the Ladder Approximation, but the three-body Green's function poses serious further problems. To calculate $G_{\omega}$, treating electrons and holes on equal footing, we propose a practical approach to sum the series to all orders. We achieve that by formally rewriting the problem in terms of a fictitious three-body interaction. Our method grants non-negative densities of states, explains the apparent negative-U behavior of the spectra of early transition metals and interpolates well between weak and strong coupling, as we demonstrate by test model calculations.Comment: AMS-LaTeX file, 23 pages, 8 eps and 3 ps figures embedded in the text with epsfig.sty and float.sty, submitted to Phys. Rev.

The Diffusion of Humans and Cultures in the Course of the Spread of Farming

The most profound change in the relationship between humans and their environment was the introduction of agriculture and pastoralism. [....] For an understanding of the expansion process, it appears appropriate to apply a diffusive model. Broadly, these numerical modeling approaches can be catego- rized in correlative, continuous and discrete. Common to all approaches is the comparison to collections of radiocarbon data that show the apparent wave of advance of the transition to farming. However, these data sets differ in entry density and data quality. Often they disregard local and regional specifics and research gaps, or dating uncertainties. Thus, most of these data bases may only be used on a very general, broad scale. One of the pitfalls of using irregularly spaced or irregularly documented radiocarbon data becomes evident from the map generated by Fort (this volume, Chapter 16): while the general east-west and south-north trends become evident, some areas appear as having undergone anomalously early transitions to farming. This may be due to faulty entries into the data base or regional problems with radiocarbon dating, if not unnoticed or undocumented laboratory mistakes.Comment: 20 pages, 5 figures, submitted to Diffusive Spreading in Nature, Technology and Society, edited by Armin Bunde, J\"urgen Caro, J\"org K\"arger, Gero Vogl, Chapter 1