Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning

Palaeomagnetic field intensity variation recorded in a Brunhes epoch deep-sea sediment core

Deep-sea sediments have been shown to possess a natural remanent magnetisation (NRM) that often can be attributed to the statistical alignment of detrital magnetic grains in the Earth's magnetic field at or shortly after the time of their deposition. In favourable circumstances this remanence can be interpreted as a record of palaeomagnetic field behaviour. In the study reported here we have attempted to describe relative variations in palaeomagnetic field intensity on a time scale of 10^4-10^5 yr, during the past 700,000 yr, using the palaeomagnetic record of deep-sea sediment piston core RC10-167 (33°2′N, 150°23′E), which has an exceptionally thick section of sediment deposited during the Brunhes normal polarity epoch (Fig. 1). After subtracting the stratigraphic contribution of several distinct volcanic ash layers interspersed with the otherwise uniform pelagic sediment, we calculate an average deposition rate of 2.1cm kyr^-1 between the adjusted level (1,470cm) of the Brunhes-Matuyama boundary (t=700,000 yr) and the top of the core, assumed t=0 yr. A 2-cm thick sample, representing about 1,000 yr of deposition, was taken at an average interval of 3.3 cm (representing about 1,600 yr). This sampling placed a theoretical limit of 3,000-4,000 yr on the period of a resolvable sinusoidal variation

Domesticated Nature : The Culturally Constructed Niche of Humanity

William Denevan argued that pristine landscapes are a myth, including in Amazonia-imagined by many as one of the last bastions of pristine Nature. During the last century, evidence accumulated to show that humans domesticated Nature during the Holocene by creating cultural niches in all habitable regions of the planet. This process of cultural niche construction is the result of human agency, grounded on culturally transmitted ecological knowledge to domesticate landscapes, and plant and animal populations, thus increasing human carrying capacity. The expansion of culturally constructed niches during the Holocene does not mean that every inch of the habitable planet became a garden; rather, there is a mosaic of landscapes domesticated to different degrees, especially forests. Consequently, domesticated landscapes depend upon their humans, even though humans can also degrade these landscapes, which gave rise to the Anthropocene concept. As a result, Edward O. Wilson proposed that half of the biosphere be set aside for Nature. Many prime areas for the half-Earth proposal are tropical forests, all with high linguistic diversity; Borneo, New Guinea, the Congo, and Amazonia are examples. Since all of Nature in the habitable regions of the planet is cultural to some degree, setting aside half requires partnership with local human populations, rather than their exclusion, which is too common today. Their participation is essential, because it is their niche construction activities that resulted in what we call Nature and without them Nature will change-through natural processes-into something different from that which we plan to conserve