Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death.

Purpose: Genetic studies in sudden infant death syndrome (SIDS) and sudden unexplained death (SUD) cohorts have indicated that cardiovascular diseases might have contributed to sudden unexpected death in 20-35 % of autopsy-negative cases. Sudden unexpected death can also occur in people with epilepsy, termed as sudden unexpected death in epilepsy (SUDEP). The pathophysiological mechanisms of SUDEP are not well understood, but are likely multifactorial, including seizure-induced hypoventilation and arrhythmias as well as genetic risk factors.

Arbuscular Mycorrhizae Alter Photosynthetic Responses to Drought in Seedlings of .

The establishment of , a keystone species of the sagebrush steppe, is often limited by summer drought. Symbioses with arbuscular mycorrhizal fungi (AMF) can help plants to cope with drought. We investigated this possible effect on seedlings inoculated with native AMF and exposed to drought in greenhouse and field settings.

A genotype × environment experiment reveals contrasting response strategies to drought between populations of a keystone species (; Asteraceae).

Western North America has been experiencing persistent drought exacerbated by climate change for over two decades. This extreme climate event is a clear threat to native plant communities. is a keystone shrub species in western North America and is threatened by climate change, urbanization, and wildfire.

A field-capable rapid plant DNA extraction protocol using microneedle patches for botanical surveying and monitoring.

Premise: A novel protocol for rapid plant DNA extraction using microneedles is proposed, which supports botanic surveys, taxonomy, and systematics. This protocol can be conducted in the field with limited laboratory skills and equipment. The protocol is validated by sequencing and comparing the results with QIAGEN spin-column DNA extractions using BLAST analyses.

Acclimation and hardening of a slow-growing woody species emblematic to western North America from in vitro plantlets.

Premise: Determining the tolerance of plant populations to climate change requires the development of biotechnological protocols producing genetically identical individuals used for genotype-by-environment experiments. Such protocols are missing for slow-growth, woody plants; to address this gap, this study uses , a western North American keystone shrub, as model.

Methods And Results: The production of individual lines is a two-step process: in vitro propagation under aseptic conditions followed by ex vitro acclimation and hardening.

Phylogenomic analyses of Sapindales support new family relationships, rapid Mid-Cretaceous Hothouse diversification, and heterogeneous histories of gene duplication.

Sapindales is an angiosperm order of high economic and ecological value comprising nine families, c. 479 genera, and c. 6570 species.

ABTC-0904: targeting glioma stem cells in GBM: a phase 0/II study of hedgehog pathway inhibitor GDC-0449.

Purpose: Gliomagenesis and resistance of glioblastoma (GBM) are believed to be mediated by glioma stem cells (GSC). Evidence suggests that SHH signaling promotes GSC proliferation and self-renewal.

Methods: ABTC-0904 was a two-arm, multicenter phase 0/II study of GDC-0449, an oral inhibitor of Smoothened (SMO) in patients undergoing resection for recurrent GBM.

Light in the Rational Treatment of Autism? Effects of Metformin on Steroid Hormones in a Patient with Polycystic Ovarian Syndrome (PCOS).

Background: Metformin is an effective treatment option for type 2 diabetes mellitus, and it is, to this day, the most prescribed oral antiglycaemic drug. Besides its effects mainly on mitochondrial activity, an off-label use came up as a pharmaceutical for subjects with a diagnosis of polycystic ovarian syndrome (PCOS) along with altered steroid hormone homeostasis. Besides these effects, even an influence on mood and social behavior was described, leading to the aim of this case report to elucidate the effects before versus after treatment with metformin on steroid hormones and social behavior.

Herbivory Amplifies Adverse Effects of Drought on Seedling Recruitment in a Keystone Species of Western North American Rangelands.

Biotic interactions can affect a plant's ability to withstand drought. Such an effect may impact the restoration of the imperiled western North American sagebrush steppe, where seedlings are exposed to summer drought. This study investigated the impact of herbivory on seedlings' drought tolerance for a keystone species in this steppe, the shrub .

Genomic Insights into Cultivated Mexican Reveal High Levels of Heterozygosity Stemming from Hybridization.

Although vanilla is one of the most valuable spices, there is a lack of understanding of the genomic variability of the main vanilla producing species, within its cultivated origin, Mexico. High genomic heterozygosity levels within the globally cultivated 'Daphna' genome have raised questions on the possibility of a hybrid origin and analogous genomic signatures of vanilla cultivated within its origin. This study investigated these questions by assessing whether the genomic structure of Mexican reflected domestication events.

Mapping the Swiss Vaccine Supply Chain.

Objectives: The design of the supply chain determines how effectively any vaccination campaign can be operated. This case study of Switzerland's vaccine supply chain compares its design with public health objectives. It maps the vaccine supply chain in Switzerland as it was set up to handle the first shipments of Covid-19 vaccine in 2021 to enable a more holistic view of supply and demand flows.

Metformin-Treatment Option for Social Impairment? An Open Clinical Trial to Elucidate the Effects of Metformin Treatment on Steroid Hormones and Social Behavior.

Background: Social behavior is mediated by steroid hormones, whereby various lines of evidence indicate that metformin might improve the symptoms of social withdrawal. This directly yields to the aim of the study to correlate the impact of metformin treatment on the potential alterations in steroid hormone homeostasis, which is ultimately impacting social behavior. Therefore, urinary samples of patients before and after treatment with metformin will be correlated to social behavior to elucidate potential changes in steroid hormone profiles and social behavior.

Uncovering haplotype diversity in cultivated Mexican vanilla species.

Premise: Although vanilla is one of the best-known spices, there is only a limited understanding of its biology and genetics within Mexico, where its cultivation originated and where phenotypic variability is high. This study aims to augment our understanding of vanilla's genetic resources by assessing species delimitation and genetic, geographic, and climatic variability within Mexican cultivated vanilla.

Methods: Using nuclear and plastid DNA sequence data from 58 Mexican samples collected from three regions and 133 ex situ accessions, we assessed species monophyly using phylogenetic analyses and genetic distances.

A haploid pseudo-chromosome genome assembly for a keystone sagebrush species of western North American rangelands.

Increased ecological disturbances, species invasions, and climate change are creating severe conservation problems for several plant species that are widespread and foundational. Understanding the genetic diversity of these species and how it relates to adaptation to these stressors are necessary for guiding conservation and restoration efforts. This need is particularly acute for big sagebrush (Artemisia tridentata; Asteraceae), which was once the dominant shrub over 1,000,000 km2 in western North America but has since retracted by half and thus has become the target of one of the largest restoration seeding efforts globally.

Centralized project-specific metadata platforms: toolkit provides new perspectives on open data management within multi-institution and multidisciplinary research projects.

Open science and open data within scholarly research programs are growing both in popularity and by requirement from grant funding agencies and journal publishers. A central component of open data management, especially on collaborative, multidisciplinary, and multi-institutional science projects, is documentation of complete and accurate metadata, workflow, and source code in addition to access to raw data and data products to uphold FAIR (Findable, Accessible, Interoperable, Reusable) principles. Although best practice in data/metadata management is to use established internationally accepted metadata schemata, many of these standards are discipline-specific making it difficult to catalog multidisciplinary data and data products in a way that is easily findable and accessible.

Residual symptoms and long-term outcomes after all-cause autoimmune encephalitis in adults.

Background And Objectives: To evaluate residual symptoms after all-cause autoimmune encephalitis in a real-life outpatient setting and compare long-term outcome measures. A secondary objective was to identify correlates of poor outcomes.

Methods: We analyzed patients referred to the Neuroimmunology clinic for evaluation of autoimmune encephalitis for whom standardized data were collected.

Hyperandrogenism? Increased 17, 20-Lyase Activity? A Metanalysis and Systematic Review of Altered Androgens in Boys and Girls with Autism.

There is increasing evidence that steroid hormone levels and, especially, androgen levels are elevated in autism. An overactivity of 17, 20-lyase with a higher production of the testosterone precursors dehydroepiandrosterone (DHEA) and androstenedione/androstenediol seems especially present in autism. An encompassing literature analysis was performed, searching for altered androgens in children with autism and using preferred reporting items for systematic reviews and meta-analysis (PRISMA) guidelines.

Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives.

Background: We estimated the cost-effectiveness of universal DNA screening for Lynch syndrome (LS) among newly diagnosed patients with colorectal cancer (CRC) followed by cascade screening of relatives from the Swiss healthcare system perspective.

Methods: We integrated decision trees with Markov models to calculate incremental cost per quality-adjusted life-year saved by screening all patients with CRC (alternative strategy) compared with CRC tumour-based testing followed by DNA sequencing (current strategy).

Results: The alternative strategy has an incremental cost-effectiveness ratio of CHF65 058 compared with the current strategy, which is cost-effective according to Swiss standards.