What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics.

The International Society of Psychiatric Genetics (ISPG) created a Residency Education Committee with the purpose of identifying key genetic knowledge that should be taught in psychiatric training programs. Thirteen committee members were appointed by the ISPG Board of Directors, based on varied training, expertise, gender, and national origin. The Committee has met quarterly for the past 2 years, with periodic reports to the Board and to the members of the Society. The information summarized includes the existing literature in the field of psychiatric genetics and the output of ongoing large genomics consortia. An outline of clinically relevant areas of genetic knowledge was developed, circulated, and approved. This document was expanded and annotated with appropriate references, and the manuscript was developed. Specific information regarding the contribution of common and rare genetic variants to major psychiatric disorders and treatment response is now available. Current challenges include the following: (1) Genetic testing is recommended in the evaluation of autism and intellectual disability, but its use is limited in current clinical practice. (2) Commercial pharmacogenomic testing is widely available, but its utility has not yet been clearly established. (3) Other methods, such as whole exome and whole genome sequencing, will soon be clinically applicable. The need for informed genetic counseling in psychiatry is greater than ever before, knowledge in the field is rapidly growing, and genetic education should become an integral part of psychiatric training

Sporopollenin as a dilution agent in artificial diets for solitary bees

Nutritional studies often require precise control of nutrients via dilution of artificial diets with indigestible material, but such studies in bees are limited. Common diluents like cellulose typically result in total mortality of bee larvae, making quantitative studies difficult. We investigated potential alternative dietary dilution agents, sporopollenin (pollen exines) and agar. We reared Osmia bicornis larvae on pollen diluted with these substances, alongside undiluted controls. Sporopollenin neither prevented nor improved survival, suggesting it is a suitable diluent. Agar appeared marginally to increase survival and its suitability requires further research. Both substances reduced cocoon weight, and sporopollenin also prolonged development, suggesting processing costs. Determining the physiological mechanisms driving these responses requires further work. Our findings should facilitate studies involving nutritional manipulations for solitary bees

Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells.

Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in developmental disabilities, seizures, spastic diplegia, and sometimes death. Current medical treatments for urea cycle disorders are only marginally effective, and for proximal disorders, liver transplantation is effective but limited by graft availability. Advances in human induced pluripotent stem cell research has allowed for the genetic modification of stem cells for potential cellular replacement therapies. In this study, we demonstrate a universally-applicable CRISPR/Cas9-based strategy utilizing exon 1 of the hypoxanthine-guanine phosphoribosyltransferase locus to genetically modify and restore arginase activity, and thus ureagenesis, in genetically distinct patient-specific human induced pluripotent stem cells and hepatocyte-like derivatives. Successful strategies restoring gene function in patient-specific human induced pluripotent stem cells may advance applications of genetically modified cell therapy to treat urea cycle and other inborn errors of metabolism

DEACTIVATION AND DECOMMISSIONING PLANNING AND ANALYSIS WITH GEOGRAPHIC INFORMATION SYSTEMS

From the mid-1950's through the 1980's, the U.S. Department of Energy's Savannah River Site produced nuclear materials for the weapons stockpile, for medical and industrial applications, and for space exploration. Although SRS has a continuing defense-related mission, the overall site mission is now oriented toward environmental restoration and management of legacy chemical and nuclear waste. With the change in mission, SRS no longer has a need for much of the infrastructure developed to support the weapons program. This excess infrastructure, which includes over 1000 facilities, will be decommissioned and demolished over the forthcoming years. Dispositioning facilities for decommissioning and deactivation requires significant resources to determine hazards, structure type, and a rough-order-of-magnitude estimate for the decommissioning and demolition cost. Geographic information systems (GIS) technology was used to help manage the process of dispositioning infrastructure and for reporting the future status of impacted facilities

Fifty Years of Scientific Ocean Drilling

Author Posting. © Oceanography Society , 2019. This article is posted here by permission of Oceanography Society for personal use, not for redistribution. The definitive version was published in Becker, K., Austin, J. A., Jr., Exon, N., Humphris, S., Kastner, M., McKenzie, J. A., Miller, K. G., Suyehiro, K., & Taira, A. Fifty years of scientific ocean drilling. Oceanography, 32(1), (2019):17-21, doi:10.5670/oceanog.2019.110.Nearly a century after the first systematic study of the global ocean and seafloor by HMS Challenger (1871–1876), US scientists began to drill beneath the seafloor to unlock the secrets of the ~70% of Earth’s surface covered by the seas. Fifty years of scientific ocean drilling by teams of international partners has provided unparalleled advancements in Earth sciences. Here, we briefly review the history, impacts, and scientific achievements of five decades of coordinated scientific ocean drilling

Error Rate of the Kane Quantum Computer CNOT Gate in the Presence of Dephasing

We study the error rate of CNOT operations in the Kane solid state quantum computer architecture. A spin Hamiltonian is used to describe the system. Dephasing is included as exponential decay of the off diagonal elements of the system's density matrix. Using available spin echo decay data, the CNOT error rate is estimated at approsimately 10^{-3}.Comment: New version includes substantial additional data and merges two old figures into one. (12 pages, 6 figures

The Nuclear Network: Multiplex Network Analysis for Interconnected Systems

States facing the decision to develop a nuclear weapons program do so within a broader context of their relationships with other countries. How these diplomatic, economic, and strategic relationships impact proliferation decisions, however, remains under-specified. Adding to the existing empirical literature that attempts to model state proliferation decisions, this article introduces the first quantitative heterogeneous network analysis of how networks of conflict, alliances, trade, and nuclear cooperation interact to spur or deter nuclear proliferation. Using a multiplex network model, we conceptualize states as nodes linked by different modes of interaction represented on individual network layers. Node strength is used to quantify factors correlated with nuclear proliferation and these are combined in a weighted sum across layers to provide a metric characterizing the proliferation behavior of the state. This multiplex network modeling approach provides a means for identifying states with the highest relative likelihood of proliferation—based only on their relationships to other states. This work demonstrates that latent conflict and nuclear cooperation are positively correlated with proliferation, while an increased trade dependence suggests a decreased proliferation likelihood. A case study on Iran’s controversial nuclear program and past nuclear activity is also provided. These findings have clear, policy-relevant conclusions related to alliance posture, sanctions policy, and nuclear assistance. Abstract ©The Authors

BMPR2 expression is suppressed by signaling through the estrogen receptor

<p>Abstract</p> <p>Background</p> <p>Studies in multiple organ systems have shown cross-talk between signaling through the bone morphogenetic protein receptor type 2 (BMPR2) and estrogen pathways. In humans, pulmonary arterial hypertension (PAH) has a female predominance, and is associated with decreased BMPR2 expression. The goal of this study was to determine if estrogens suppress BMPR2 expression.</p> <p>Methods</p> <p>A variety of techniques were utilized across several model platforms to evaluate the relationship between estrogens and BMPR2 gene expression. We used quantitative RT-PCR, gel mobility shift, and luciferase activity assays in human samples, live mice, and cell culture.</p> <p>Results</p> <p>BMPR2 expression is reduced in lymphocytes from female patients compared with male patients, and in whole lungs from female mice compared with male mice. There is an evolutionarily conserved estrogen receptor binding site in the BMPR2 promoter, which binds estrogen receptor by gel-shift assay. Increased exogenous estrogen decreases BMPR2 expression in cell culture, particularly when induced to proliferate. Transfection of increasing quantities of estrogen receptor alpha correlates strongly with decreasing expression of BMPR2.</p> <p>Conclusions</p> <p>BMPR2 gene expression is reduced in females compared to males in live humans and in mice, likely through direct estrogen receptor alpha binding to the BMPR2 promoter. This reduced BMPR2 expression may contribute to the increased prevalence of PAH in females.</p