Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

Background: Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984.Methods: This family was restudied as part of our ongoing study of XLMR, but significant linkage to X chromosome markers could not be found. Extreme short stature and microcephaly as well as other new clinical findings were observed. Mutations in the polyglutamine tract binding protein 1 gene (PQBP1) have recently been reported in four XLMR disorders (Renpenning, Hamel cerebro-palato-cardiac, Sutherland-Haan, and Porteous syndromes) as well as in several other families. The clinical similarity of our family to these patients with mutations in PQBP1, particularly the presence of microcephaly, short stature, and atrial septal defect, prompted examination of this gene.Results: A missense mutation in PQBP1 was identified which changed the conserved tyrosine residue in the WW domain at position 65 to a cysteine (p.Y65C).Conclusions: This is the first missense mutation identified in PQBP1 and the first mutation in the WW domain of the gene. The WW domain has been shown to play an important role in the regulation of transcription by interacting with the PPxY motif found in transcription factors. The p.Y65C mutation may affect the proper functioning of the PQBP1 protein as a transcriptional co-activator

High-resolution antenna near-field imaging and sub-THz measurements with a small atomic vapor-cell sensing element

Atomic sensing and measurement of millimeter-wave (mmW) and THz electric fields using quantum-optical EIT spectroscopy of Rydberg states in atomic vapors has garnered significant interest in recent years towards the development of atomic electric-field standards and sensor technologies. Here we describe recent work employing small atomic vapor cell sensing elements for near-field imaging of the radiation pattern of a K$_u$-band horn antenna at 13.49 GHz. We image fields at a spatial resolution of $\lambda/10$ and measure over a 72 to 240 V/m field range using off-resonance AC-Stark shifts of a Rydberg resonance. The same atomic sensing element is used to measure sub-THz electric fields at 255 GHz, an increase in mmW-frequency by more than one order of magnitude. The sub-THz field is measured over a continuous $\pm$100 MHz frequency band using a near-resonant mmW atomic transition

Greater than the sum of the parts? unpacking ethics of care within a community supported agriculture scheme

Book synopsis: Reconnecting so-called alternative food geographies back to the mainstream food system - especially in light of the discursive and material 'transgressions' currently happening between alternative and conventional food networks, this volume critically interrogates and evaluates what stands for 'food politics' in these spaces of transgression now and in the near future and addresses questions such as: What constitutes 'alternative' food politics specifically and food politics more generally when organic and other 'quality' foods have become mainstreamed? What has been the contribution so far of an 'alternative food movement' and its potential to leverage further progressive change and/or make further inroads into conventional systems? What are the empirical and theoretical bases for understanding the established and growing 'transgressions' between conventional and alternative food networks? Offering a better understanding of the evolving position of the corporate food system vis a vis alternative food networks, this book considers the prospects for economic, social, cultural and material transformations led by an increasingly powerful and legitimated alternative food network

Supplementary feeding of wild birds indirectly affects ground beetle populations in suburban gardens

Supplementary feeding of wild birds by domestic garden-holders is a globally widespread and popular form of human–wildlife interaction, particularly in urban areas. Vast amounts of energy are thus being added to garden ecosystems. However, the potential indirect effects of this activity on non-avian species have been little studied to date, with the only two previous studies taking place under experimentally manipulated conditions. Here we present the first evidence of a localised depletive effect of wild bird feeding on ground beetles (Coleoptera: Carabidae) in suburban gardens under the usual feeding patterns of the garden-holders. We trapped significantly fewer ground beetles directly under bird-feeding stations than in matched areas of habitat away from feeders. Video analysis also revealed significantly higher activity by ground-foraging birds under the feeding stations than in the control areas. Small mammal trapping revealed no evidence that these species differ in abundance between gardens with and without bird feeders. We therefore suggest that local increases in ground-foraging activity by bird species whose diets encompass arthropods as well as seed material are responsible for the reduction in ground beetle numbers. Our work therefore illustrates that providing food for wild birds can have indirect negative effects on palatable prey species under typical conditions

'Open Marxism' against and beyond the 'Great Enclosure'? Reflections on How (Not) to Crack Capitalism

The main purpose of this article is to provide an in-depth discussion of John Holloway’s recent book, Crack Capitalism. To this end, the paper offers a detailed account of the key strengths and weaknesses of Holloway’s version of ‘open Marxism’. The analysis is divided into two parts. The first part focuses on six significant strengths of Crack Capitalism: (1) its insistence upon the importance of autonomous forms of agenda-setting for both individual and collective emancipation; (2) its emphasis on the ordinary constitution of social struggles; (3) its fine-grained interpretation of the socio-ontological conditions underlying human agency; (4) its processual conception of radical social transformation; (5) its recognition of the elastic, adaptable, and integrative power of capitalism; and (6) its proposal for an alternative critical theory, commonly known as ‘open Marxism’ or ‘autonomous Marxism’. The second part of the study examines the principal weaknesses of Crack Capitalism: (1) the counterproductive implications of the preponderance of negativity, owing to a one-sided concern with critique, cracks, and crises; (2) conceptual vagueness; (3) an overuse of poetic and metaphorical language; (4) the absence of a serious engagement with the question of normativity; (5) a lack of substantive evidence; (6) a residual economic reductionism; (7) a simplistic notion of gender; (8) the continuing presence of various problematic ‘isms’; (9) the misleading distinction between ‘doing’ and ‘labour’; (10) a reductive understanding of capitalism; (11) an unrealistic view of society; and (12) socio-ontological idealis

Enhanced conditioned eyeblink response acquisition and proactive interference in anxiety vulnerable individuals

In classical conditioning, proactive interference may arise from experience with the conditioned stimulus (CS), the unconditional stimulus (US), or both, prior to their paired presentations. Interest in the application of proactive interference has extended to clinical populations as either a risk factor for disorders or as a secondary sign. Although the current literature is dense with comparisons of stimulus pre-exposure effects in animals, such comparisons are lacking in human subjects. As such, interpretation of proactive interference over studies as well as its generalization and utility in clinical research is limited. The present study was designed to assess eyeblink response acquisition after equal numbers of CS, US, and explicitly unpaired CS and US pre-exposures, as well as to evaluate how anxiety vulnerability might modulate proactive interference. In the current study, anxiety vulnerability was assessed using the State/Trait Anxiety Inventories as well as the adult and retrospective measures of behavioral inhibition (AMBI and RMBI, respectively). Participants were exposed to 1 of 4 possible pre-exposure contingencies: 30 CS, 30 US, 30 CS, and 30 US explicitly unpaired pre-exposures, or Context pre-exposure, immediately prior to standard delay training. Robust proactive interference was evident in all pre-exposure groups relative to Context pre-exposure, independent of anxiety classification, with CR acquisition attenuated at similar rates. In addition, trait anxious individuals were found to have enhanced overall acquisition as well as greater proactive interference relative to non-vulnerable individuals. The findings suggest that anxiety vulnerable individuals learn implicit associations faster, an effect which persists after the introduction of new stimulus contingencies. This effect is not due to enhanced sensitivity to the US. Such differences would have implications for the development of anxiety psychopathology within a learning framework

Antarctic Ice Sheet Elevation Impacts on Water Isotope Records During the Last Interglacial

Changes of the topography of the Antarctic ice sheet (AIS) can complicate the interpretation of ice core water stable isotope measurements in terms of temperature. Here, we use a set of idealised AIS elevation change scenarios to investigate this for the warm Last Interglacial (LIG). We show that LIG δ 18 O against elevation relationships are not uniform across Antarctica, and that the LIG response to elevation is lower than the preindustrial response. The effect of LIG elevation‐induced sea ice changes on δ 18 O is small, allowing us to isolate the effect of elevation change alone. Our results help to define the effect of AIS changes on the LIG δ 18 O signals, and should be invaluable to those seeking to use AIS ice core measurements for these purposes. Especially, our simulations strengthen the conclusion that ice core measurements from the Talos Dome core exclude the loss of the Wilkes Basin at around 128 ky

Building Collaborative Partnerships to Increase Postsecondary Education Opportunities for Students with Intellectual and Developmental Disabilities

Transitioning from high school to the next phase of life can be especially challenging for youth with intellectual and other developmental disabilities (IDD). Federal mandates are in place to provide individualized transition services to students with disabilities up to age 22; however, there is variability in the location of service delivery. A growing number of school districts have partnered with institutions of higher education (IHE) in an effort to enhance postsecondary education (PSE) opportunities for individuals with IDD who are between the ages of 18-21. While there are some differences in PSE programs, the core foundational component is constant across models: establishing and maintaining collaborative partnerships between school districts and IHE. This paper describes PSE program models and highlights the necessity to continue to build partnerships in an effort to expand PSE opportunities for young adults with IDD

Bromine measurements in ozone depleted air over the Arctic Ocean

In situ measurements of ozone, photochemically active bromine compounds, and other trace gases over the Arctic Ocean in April 2008 are used to examine the chemistry and geographical extent of ozone depletion in the arctic marine boundary layer (MBL). Data were obtained from the NOAA WP-3D aircraft during the Aerosol, Radiation, and Cloud Processes affecting Arctic Climate (ARCPAC) study and the NASA DC-8 aircraft during the Arctic Research of the Composition of the Troposphere from Aircraft and Satellites (ARCTAS) study. Fast (1 s) and sensitive (detection limits at the low pptv level) measurements of BrCl and BrO were obtained from three different chemical ionization mass spectrometer (CIMS) instruments, and soluble bromide was measured with a mist chamber. The CIMS instruments also detected Br2. Subsequent laboratory studies showed that HOBr rapidly converts to Br2 on the Teflon instrument inlets. This detected Br2 is identified as active bromine and represents a lower limit of the sum HOBr + Br2. The measured active bromine is shown to likely be HOBr during daytime flights in the arctic. In the MBL over the Arctic Ocean, soluble bromide and active bromine were consistently elevated and ozone was depleted. Ozone depletion and active bromine enhancement were confined to the MBL that was capped by a temperature inversion at 200–500 m altitude. In ozone-depleted air, BrO rarely exceeded 10 pptv and was always substantially lower than soluble bromide that was as high as 40 pptv. BrCl was rarely enhanced above the 2 pptv detection limit, either in the MBL, over Alaska, or in the arctic free troposphere