The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

A grant from the One-University Open Access Fund at the University of Kansas was used to defray the author's publication fees in this Open Access journal. The Open Access Fund, administered by librarians from the KU, KU Law, and KUMC libraries, is made possible by contributions from the offices of KU Provost, KU Vice Chancellor for Research & Graduate Studies, and KUMC Vice Chancellor for Research. For more information about the Open Access Fund, please see http://library.kumc.edu/authors-fund.xml.Patients with the 15q11.2 BP1–BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and psychiatric problems. Autism, seizures, schizophrenia and mild dysmorphic features are less commonly seen. The 15q11.2 BP1–BP2 microdeletion involving four genes (i.e., TUBGCP5, CYFIP1, NIPA1, NIPA2) is emerging as a recognized syndrome with a prevalence ranging from 0.57%–1.27% of patients presenting for microarray analysis which is a two to four fold increase compared with controls. Review of clinical features from about 200 individuals were grouped into five categories and included developmental (73%) and speech (67%) delays; dysmorphic ears (46%) and palatal anomalies (46%); writing (60%) and reading (57%) difficulties, memory problems (60%) and verbal IQ scores ≤75 (50%); general behavioral problems, unspecified (55%) and abnormal brain imaging (43%). Other clinical features noted but not considered as common were seizures/epilepsy (26%), autism spectrum disorder (27%), attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD) (35%), schizophrenia/paranoid psychosis (20%) and motor delay (42%). Not all individuals with the deletion are clinically affected, yet the collection of findings appear to share biological pathways and presumed genetic mechanisms. Neuropsychiatric and behavior disturbances and mild dysmorphic features are associated with genomic imbalances of the 15q11.2 BP1–BP2 region, including microdeletions, but with an apparent incomplete penetrance and variable expressivity.NICHD (National Institute of Child Health and Human Development) HD0252

The Law and Accessible Texts: Reconciling Civil Rights and Copyrights

Executive Summary Institutions of higher education (IHEs—colleges, community colleges, and universities) have a mission to provide all students, including those with disabilities (a physical or mental impairment that substantially limits one or more major life activities), with opportunities for a rich, deep, and equitable learning experience, and to provide all researchers with access to a comprehensive and varied collection of information resources to support their work. Several disability rights laws create obligations for IHEs to ensure that students and researchers with disabilities have access to resources, including texts, at a level that is as close as reasonably possible to the level of access provided to those without disabilities. Enforcement actions can be brought by federal government agencies (the civil rights division of the Department of Education, for example) or by private citizens, and the result of these actions has typically been that IHEs are compelled to improve levels of access, including by incorporating new technology, creating new staff positions, and implementing new policies. For years, disability services offices (DSOs—the office or department at an IHE tasked with supporting the needs of users with disabilities) and others involved in fulfilling the requirements of disability rights laws have viewed copyright (the body of law that governs copying, adaptation, distribution, and certain other uses of works of creative expression) as an impediment to their work. They have been uncertain about what is permitted, and have constrained their activities in support of civil rights out of fear of violating copyrights. The tension has dramatically curtailed their efficiency. This fear is due primarily to a misunderstanding of voluntary arrangements DSOs have with some of the biggest publishers. These arrangements place strict constraints on DSOs’ use and reuse of accessible texts, based on the publishers’ view of their commercial interests, not on the law. Some publishers have also included misleading warnings on accessible texts they provide to DSOs. The Law and Accessible Texts: Reconciling Civil Rights and Copyrights 7 In reality, even in the absence of such voluntary arrangements, copyright law provides IHEs with broad, clear authority to create accessible copies of in-copyright works (i.e., to “remediate” them by converting them into a format that makes it possible for users with disabilities to acquire the same information, have the same interactions, and otherwise derive the same benefits as other users), to distribute accessible texts to qualified users, and to retain and share remediated texts in secure repositories for use in serving future qualifying requests. The key provisions in U.S. copyright law that make this possible are Section 121, also known as the Chafee Amendment, and Section 107, the fair use doctrine. Section 121 is a specific but broad exception permitting authorized entities to make copyrighted works available to the print-disabled in accessible formats without permission from the copyright holder. Section 107 is the general right to use copyrighted works without permission when a set of flexible, equitable factors weigh in favor of the use. A landmark case, Authors Guild v. HathiTrust, has established that fair use authorizes IHEs to create and manage repositories of digital texts in support of accessibility, among other legitimate uses. Together, these two rights enacted by Congress permit each step in a workflow that starts with a request from a student or researcher with a disability, involves remediation and delivery of an accessible version to the requestor, and culminates with deposit of the remediated version in a secure repository for appropriate future use (including future remediation) in the service of other requestors. Along the way, copyright law provides some guidance as to how exactly each step might be conducted, but leaves IHEs with discretion to design their systems in consideration of values and priorities both intrinsic and extrinsic to copyright. In addition to copyright, IHEs working together to provide accessible texts to qualified users should consider a range of values and priorities as they decide whether and how to take advantage of their rights. These include their own missions, the privacy and autonomy of those they serve, and the plausible risks (if any) associated with increasing access to information Conclusion In 2016, Stevie Wonder addressed the United Nations, urging member states to ratify the Marrakesh Treaty. He told the assembly, “This is a truly life changing opportunity. It opens the door to the world’s knowledge to the visually impaired people.”89 Indeed, the U.S. ratification of the Marrakesh Treaty is the culmination of a series of developments in U.S. law favoring access to knowledge regardless of ability, from the Rehabilitation Act to the codification of the fair use doctrine in the 1976 Copyright Act, to the passage of the Chafee Amendment and the courts’ decisions in the HathiTrust case. Collectively, these measures create a framework that IHEs and their allies and affiliated entities can leverage to increase access and vastly improve education and research for all. They ensure that institutions with an obligation and a mission to pursue justice also have the right to do so. Perhaps the most striking takeaway from this survey has been the extent to which copyright defers to accessibility, not the other way around. What has emerged is a hierarchy of legal interests, arrayed under the general heading of the First Amendment and its protection for expression and access to information. Contrary to what some have assumed in the past, the first priority under that heading is accessibility, which consistently trumps the exclusive rights granted by copyright when the two come into conflict. This priority is built into the copyright law itself, through both its general fair use right and its specific provisions favoring accessibility. The effort involved in ending the book famine for thousands of students and researchers will be substantial, and there will surely be challenges along the way, but copyright law should not be one of them

The Copyright Permissions Culture in Software Preservation and Its Implications for the Cultural Record

This report summarizes results from research with the professionals who make up the software preservation community about how their understanding of copyright intersects with their preservation mission. Professionals typically face significant challenges from perceived copyright barriers. They tend to assume that a license or other express permission from a copyright holder is required before embarking on a wide variety of preservation activities, and typically find that such permissions are difficult or impossible to obtain. In the absence of reliable information to guide informed risk assessment, professionals act on the reasonable assumption that high levels of legal risk could be associated with activities that potentially implicate copyright and related doctrines. As a result, they often forego and postpone essential preservation activities, and establish access policies for collection materials that strictly limit scholarship. Preservation professionals have actively explored opportunities for collaboration and resource-sharing, but their prospects are clouded by legal uncertainty. At the same time, professionals are frustrated and deeply concerned that over-conservative approaches are limiting access to software and software-dependent works, imperiling the future of digital memory. The community has so far had little access to information or expert advice about alternatives to seeking permission, and in particular about the fair use doctrine, which allows the use of copyrighted materials without permission from the copyright holder under certain circumstances. Developing a shared understanding among preservation professionals of best practices around employing fair use to achieve their preservation and access mission will facilitate their work

Period-colour and amplitude-colour relations in classical Cepheid variables IV: The multi-phase relations

The superb phase resolution and quality of the OGLE data on LMC and SMC Cepheids, together with existing data on Galactic Cepheids, are combined to study the period-colour (PC) and amplitude-colour (AC) relations as a function of pulsation phase. Our results confirm earlier work that the LMC PC relation (at mean light) is more consistent with two lines of differing slopes, separated at a period of 10 days. However, our multi-phase PC relations reveal much new structure which can potentially increase our understanding of Cepheid variables. These multi-phase PC relations provide insight into why the Galactic PC relation is linear but the LMC PC relation is non-linear. This is because the LMC PC relation is shallower for short (log P < 1) and steeper for long (log P > 1) period Cepheids than the corresponding Galactic PC relation. Both of the short and long period Cepheids in all three galaxies exhibit the steepest and shallowest slopes at phases around 0.75-0.85, respectively. A consequence is that the PC relation at phase ~0.8 is highly non-linear. Further, the Galactic and LMC Cepheids with log P > 1 display a flat slope in the PC plane at phases close to the maximum light. When the LMC period-luminosity (PL) relation is studied as a function of phase, we confirm that it changes with the PC relation. The LMC PL relation in V- and I-band near the phase of 0.8 provides compelling evidence that this relation is also consistent with two lines of differing slopes joined at a period close to 10 days.Comment: 12 pages, 1 table and 13 figures, MNRAS accepte

On the Method to Infer an Atmosphere on a Tidally-Locked Super Earth Exoplanet and Upper limits to GJ 876d

We develop a method to infer or rule out the presence of an atmosphere on a tidally-locked hot super Earth. The question of atmosphere retention is a fundamental one, especially for planets orbiting M stars due to the star's long-duration active phase and corresponding potential for stellar-induced planetary atmospheric escape and erosion. Tidally-locked planets with no atmosphere are expected to show a Lambertian-like thermal phase curve, causing the combined light of the planet-star system to vary with planet orbital phase. We report Spitzer 8 micron IRAC observations of GJ 876 taken over 32 continuous hours and reaching a relative photometric precision of 3.9e-04 per point for 25.6 s time sampling. This translates to a 3 sigma limit of 5.13e-05 on a planet thermal phase curve amplitude. Despite the almost photon-noise limited data, we are unable to conclusively infer the presence of an atmosphere or rule one out on the non-transiting short-period super Earth GJ 876d. The limiting factor in our observations was the miniscule, monotonic photometric variation of the slightly active host M star, because the partial sine wave due to the planet has a component in common with the stellar linear trend. The proposed method is nevertheless very promising for transiting hot super Earths with the James Webb Space Telescope and is critical for establishing observational constraints for atmospheric escape.Comment: Published in Ap

Solar-like oscillations in the G9.5 subgiant beta Aquilae

An interesting asteroseismic target is the G9.5 IV solar-like star beta Aql. This is an ideal target for asteroseismic investigations, because precise astrometric measurements are available from Hipparcos that greatly help in constraining the theoretical interpretation of the results. The star was observed during six nights in August 2009 by means of the high-resolution \'echelle spectrograph SARG operating with the TNG 3.58 m Italian telescope on the Canary Islands, exploiting the iodine cell technique. We present the result and the detailed analysis of high-precision radial velocity measurements, where the possibility of detecting time individual p-mode frequencies for the first and deriving their corresponding asymptotic values will be discussed. The time-series analysis carried out from \sim 800 collected spectra shows the typical p-mode frequency pattern with a maximum centered at 416 \muHz. In the frequency range 300 - 600 \muHz we identified for the first time six high S/N (\gtrsim 3.5) modes with l = 0,2 and 11 < n < 16 and three possible candidates for mixed modes (l = 1), although the p-mode identification for this type of star appears to be quite difficult owing to a substantial presence of avoided crossings. The large frequency separation and the surface term from the set of identified modes by means of the asymptotic relation were derived for the first time. Their values are \Delta \nu = 29.56 \pm 0.10 \muHz and \epsilon = 1.29 \pm 0.04, consistent with expectations. The most likely value for the small separation is \delta\nu_{02} = 2.55 \pm 0.71 \muHz.Comment: 8 pages, 8 figures, 3 tables, accepted by A&

Cellular resolutions of noncommutative toric algebras from superpotentials

This paper constructs cellular resolutions for classes of noncommutative algebras, analogous to those introduced by Bayer and Sturmfels (1998)in the commutative case. To achieve this we generalise the dimer model construction of noncommutative crepant resolutions of three-dimensional toric algebras by associating a superpotential and a notion of consistency to toric algebras of arbitrary dimension. For abelian skew group algebras and algebraically consistent dimer model algebras, we introduce a cell complex Δ in a real torus whose cells describe uniformly all maps in the minimal projective bimodule resolution ofA. We illustrate the general construction of Δ for an example in dimension four arising from a tilting bundle on a smooth toric Fano threefold to highlight the importance of the incidence function on Δ

The ebb and flow of adaptive co-management: a longitudinal evaluation of a conservation conflict

Adaptive co-management (ACM) is an emerging approach to the governance of social-ecological systems, but there are few long-term assessments of its efficacy. This is especially true in conservation conflicts, where ACM can mitigate disputes between polarised stakeholders. We evaluated ACM that emerged in 2005 to address conflict between seal conservation and fisheries interests in the Moray Firth, Scotland. We interviewed 20 stakeholders in 2015, repeating a survey carried out in 2011 which applied an indicator framework to measure outcomes and pre-conditions for ACM to continue. In 2015, all but one of the 12 outcome indicators were positive, the exception being the conservation status of salmon. However, pre-conditions for ACM’s continuation had weakened, with declines between 2005, 2011 and 2015. These were most marked for three indicators: leaders prepared to champion the process, presence of a bridging organisation or individual, and participation of all impacted stakeholders. The results show that ACM in this conservation conflict is dynamic. Perceived declines in salmon abundance and increases in seal numbers have renewed tensions amongst stakeholders, triggering a ‘revival’ phase of ACM initiated by fishery interests. Our study provides empirical evidence of ACM’s fluid nature, and how resource crises can reignite ACM. We suggest that participatory evaluation is a potentially important early-warning mechanism that can identify remedial action and galvanise stakeholders to respond to the re-emergence of conflict