Wilson's disease (hepatolenticular degeneration)

This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of Wilson's disease

A Conversation on Labour & Practice

Automated approaches to design, fabrication, and construction present disruptive and potentially transformative challenges to the conventional practice of architecture, as computational workflows recalibrate traditional roles and responsibilities in the production of buildings. How does computational design change how labor is defined and enacted in architectural and construction practice? What are the ethical implications and questions that arise in this context, particularly as we consider the implications of uncompensated or under-compensated labor of those doing computational work? This keynote event brings together three architects and thinkers to critically explore the intersections between computation, labor, and practice. Peggy Deamer is Professor Emerita of Yale University’s School of Architecture, principal in the firm of Deamer, Studio, and a founding member of the Architecture Lobby, a group advocating for the value of architectural design and labor. Billie Faircloth is a Partner at KieranTimberlake, where she leads a transdisciplinary group leveraging research, design, and problem-solving processes across fields including environmental management, chemical physics, materials science, and architecture. Mollie Claypool is an architecture theorist and activist at AUAR and UCL Bartlett. Her work broadly focuses on issues of social justice highlighted by increasing automation in architecture and design production, such as the future of work, housing, platforms, localised manufacturing, and circular economies

A Reference Genome For The Nectar-Robbing Black-Throated Flowerpiercer (Diglossa Brunneiventris)

Black-throated Flowerpiercers (Diglossa brunneiventris) are one species representing a phenotypically specialized group of tanagers (Thraupidae) that have hooked bills which allow them to feed by stealing nectar from the base of flowers. Members of the genus are widely distributed in montane regions from Mexico to northern Argentina, and previous studies of Diglossa have focused on their systematics, phylogenetics, and interesting natural history. Despite numerous studies of species within the genus, no genome assembly exists to represent these nectivorous tanagers. We described the assembly of a genome sequence representing a museum-vouchered, wild, female D. brunneiventris collected in Peru. By combining Pacific Biosciences Sequel long-read technology with 10x linked-read and reference-based scaffolding, we produced a 1.08 Gbp pseudochromosomal assembly including 600 scaffolds with a scaffold N50 of 67.3 Mbp, a scaffold L50 of 6, and a BUSCO completeness score of 95%. This new assembly improves representation of the diverse species that comprise the tanagers, improves on scaffold lengths and contiguity when compared to existing genomic resources for tanagers, and provides another avenue of research into the genetic basis of adaptations common to a nectivorous lifestyle among vertebrates

Adverse effects of pegaspargase in pediatric patients receiving doses greater than 3,750 IU

BackgroundIncreased toxicities have been identified with higher doses of pegaspargase (PEG‐ASP) in adults. This has led to routine use of a dose cap of 3,750 IU for adult acute lymphoblastic leukemia (ALL) patients in most institutions. In pediatric ALL patients, PEG‐ASP is not capped. There is concern at our institution that larger doses may result in increased rates of adverse effects and that increased monitoring may be warranted in pediatric patients receiving doses greater than 3,750 IU. The objective of this study is to quantify the difference in the rates of PEG‐ASP‐associated adverse events between pediatric patients who received doses greater than 3,750 IU and less than or equal to 3,750 IU.MethodsRetrospective chart review of patients 1–21 years old with pre‐B‐cell ALL who received PEG‐ASP between 2007 and 2014 at an academic medical center.ResultsOf 183 patients included in the analysis, 24 received PEG‐ASP doses higher than 3,750 IU and 159 received doses less than or equal to 3,750 IU. The incidence of venous thromboembolism (VTE) was significantly higher for patients in the group that received more than 3,750 IU compared with those who received 3,750 IU or less (20.8 vs. 1.89%, respectively; P = 0.0011). The incidence of pancreatitis (P = 0.0306) and hyperglycemia (P = 0.0089) were also higher in the group that received more than 3,750 IU.ConclusionsPEG‐ASP doses higher than 3,750 IU are associated with higher rates of VTE, pancreatitis, and hyperglycemia in pediatric patients with pre‐B‐cell ALL. Patients receiving more than 3,750 IU should have increased monitoring, and larger, multicenter trials are needed to determine if monitoring, VTE prophylaxis, and potential dose capping recommendations should be added to clinical trial protocols.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/138220/1/pbc26555_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/138220/2/pbc26555.pd

Genetic Patterns in Peripheral Marine Populations of the Fusilier Fish Caesio Cuning Within the Kuroshio Current

Aim: Mayr’s central‐peripheral population model (CCPM) describes the marked differences between central and peripheral populations in genetic diversity, gene flow, and census size. When isolation leads to genetic divergence, these peripheral populations have high evolutionary value and can influence biogeographic patterns. In tropical marine species with pelagic larvae, powerful western‐boundary currents have great potential to shape the genetic characteristics of peripheral populations at latitudinal extremes. We tested for the genetic patterns expected by the CCPM in peripheral populations that are located within the Kuroshio Current for the Indo‐Pacific reef fish, Caesio cuning. Methods: We used a panel of 2,677 SNPs generated from restriction site‐associated DNA (RAD) sequencing to investigate genetic diversity, relatedness, effective population size, and spatial patterns of population connectivity from central to peripheral populations of C. cuning along the Kuroshio Current. Results: Principal component and cluster analyses indicated a genetically distinct lineage at the periphery of the C. cuning species range and examination of SNPs putatively under divergent selection suggested potential for local adaptation in this region. We found signatures of isolation‐by‐distance and significant genetic differences between nearly all sites. Sites closest to the periphery exhibited increased within‐population relatedness and decreased effective population size. Main Conclusions: Despite the potential for homogenizing gene flow along the Kuroshio Current, peripheral populations in C. cuning conform to the predictions of the CCPM. While oceanography, habitat availability, and dispersal ability are all likely to shape the patterns found in C. cuning across this central‐peripheral junction, the impacts of genetic drift and natural selection in increasing smaller peripheral populations appear to be probable influences on the lineage divergence found in the Ryukyu Islands

Beyond Knowledge: Exploring Why Some Teachers Are More Thoughtfully Adaptive Than Others

As teacher educators, we have observed that knowledge alone does not lead to the kinds of thoughtful teaching we strive for. Puzzled by differences in the teaching practices of teacher candidates having similar professional knowledge, we explore what might account for these differences. We address what is necessary, beyond traditional forms of professional knowledge, to support the development of thoughtful teachers who are responsive to students and situations. We provide four perspectives, each drawn from areas in which we conduct our research, and suggest a need to move beyond knowledge in teacher education. Our aim is to explore questions about preparing thoughtful teachers and to challenge others to do the same. We postulate that self-knowledge and a sense of agency with the intent of purposefully negotiating personal and professional contexts may be as important, if not more important, than the more traditional conceptions of professional knowledge

The effect of social media communication on consumer perceptions of brands

Researchers and brand managers have limited understanding of the effects social media communication has on how consumers perceive brands. We investigated 504 Facebook users in order to observe the impact of firm-created and user-generated social media communication on brand equity, brand attitude and purchase intention by using a standardized online survey throughout Poland. To test the conceptual model, we analyzed 60 brands across three different industries: non-alcoholic beverages, clothing and mobile network operators. When analyzing the data, we applied the structural equation modeling technique to both investigate the interplay of firm-created and user-generated social media communication and examine industry-specific differences. The results of the empirical studies showed that user-generated social media communication had a positive influence on both brand equity and brand attitude, whereas firm-created social media communication affected only brand attitude. Both brand equity and brand attitude were shown to have a positive influence on purchase intention. In addition, we assessed measurement invariance using a multi-group structural modeling equation. The findings revealed that the proposed measurement model was invariant across the researched industries. However, structural path differences were detected across the models