Comparison of the Rowland Universal Dementia Assessment Scale and Mini-Mental State Examination for dementia detection

Objective: To assess the ability of the Rowland Universal Dementia Assessment Scale (RUDAS) in comparison to the Mini-Mental State Examination (MMSE) to detect signs of dementia in a diverse elderly population. Design: Systematic literature review. Methods: Searches were done in PubMed, utilizing the terms MMSE, RUDAS, and dementia. Results: Using the keywords mentioned on PubMed,two articles met the inclusion and exclusion criteria: Limpawattana et al and T. R. Nielsen et al. One other article was found by searching under the “Related Articles” section on PubMed: D. Basic et al. Conclusion: The RUDAS performs just as well as the MMSE for detecting dementia and is less affected by demographic variables such as education, language, and cultural background

A Case of Metastatic Atypical Neuroendocrine Tumor with ALK Translocation and Diffuse Brain Metastases.

A challenge in precision medicine requires identification of actionable driver mutations. Critical to such effort is the deployment of sensitive and well-validated assays for mutation detection. Although identification of such alterations within the tumor tissue remains the gold standard, many advanced non-small cell lung cancer cases have only limited tissue samples, derived from small biopsies or fine-needle aspirates, available for testing. More recently, noninvasive methods using either circulating tumor cells or tumor DNA (ctDNA) have become an alternative method for identifying molecular biomarkers and screening patients eligible for targeted therapies. In this article, we present a case of a 52-year-old never-smoking male who presented with widely metastatic atypical neuroendocrine tumor to the bones and the brain. Molecular genotyping using DNA harvested from a bone metastasis was unsuccessful due to limited material. Subsequent ctDNA analysis revealed an ALK translocation. The clinical significance of the mutation in this particular cancer type and therapeutic strategies are discussed.Key pointsTo our knowledge, this index case represents the first reported ALK translocation identified in an atypical carcinoid tumor.Liquid biopsy such as circulating tumor DNA is a feasible alternative platform for identifying sensitizing genomic alterations.Second-generation ALK inhibitors represent a new paradigm for treating ALK-positive patients with brain metastases

Efficient targeted mutagenesis in the monarch butterfly using zinc finger nucleases

The development of reverse-genetic tools in non-model insect species with distinct biology is critical to establish them as viable model systems. The eastern North American monarch butterfly (Danaus plexippus), whose genome is sequenced, has emerged as a model to study animal clocks, navigational mechanisms and the genetic basis of long-distance migration. Here, we developed a highly efficient gene-targeting approach in the monarch using zinc-finger nucleases (ZFNs), engineered nucleases that generate mutations at targeted genomic sequences. We focused our ZFN approach on targeting the type 2 vertebrate-like cryptochrome gene of the monarch (designated cry2), which encodes a putative transcriptional repressor of the monarch circadian clockwork. Co-injections of mRNAs encoding ZFNs targeting the second exon of monarch cry2 into one nucleus stage embryos led to high frequency non-homologous end-joining-mediated, mutagenic lesions in the germline (up to 50%). Heritable ZFN-induced lesions in two independent lines produced truncated, nonfunctional CRY2 proteins, resulting in the in vivo disruption of circadian behavior and the molecular clock mechanism. Our work genetically defines CRY2 as an essential transcriptional repressor of the monarch circadian clock and provides a proof of concept for the use of ZFNs for manipulating genes in the monarch butterfly genome. Importantly, this approach could be used in other lepidopterans and non-model insects, thus opening new avenues to decipher the molecular underpinnings of a variety of biological processes

Transportation barriers to care among frequent health care users during the COVID pandemic

Background: Transportation problems are known barriers to health care and can result in late arrivals and delayed or missed care. Groups already prone to greater social and economic disadvantage, including low-income individuals and people with chronic conditions, encounter more transportation barriers and experience greater negative health care consequences. Addressing transportation barriers is important not only for mitigating adverse health care outcomes among patients, but also for avoiding additional costs to the health care system. In this study, we investigate transportation barriers to accessing health care services during the COVID-19 pandemic among high-frequency health care users. Methods: A web-based survey was administered to North Carolina residents aged 18 and older in the UNC Health system who were enrolled in Medicaid or Medicare and had at least six outpatient medical appointments in the past year. 323 complete responses were analyzed to investigate the prevalence of reporting transportation barriers that resulted in having arrived late to, delayed, or missed care, as well as relationships between demographic and other independent variables and transportation barriers. Qualitative analyses were performed on text response data to explain transportation barriers. Results: Approximately 1 in 3 respondents experienced transportation barriers to health care between June 2020 and June 2021. Multivariate logistic regressions indicate individuals aged 18–64, people with disabilities, and people without a household vehicle were significantly more likely to encounter transportation barriers. Costs of traveling for medical appointments and a lack of driver or car availability emerged as major transportation barriers; however, respondents explained that barriers were often complex, involving circumstantial problems related to one’s ability to access and pay for transportation as well as to personal health. Conclusions: To address transportation barriers, we recommend more coordination between transportation and health professionals and the implementation of programs that expand access to and improve patient awareness of health care mobility services. We also recommend transportation and health entities direct resources to address transportation barriers equitably, as barriers disproportionately burden younger adults under age 65 enrolled in public insurance programs

ImaYDiT - Imagining young disabled people's transitions in a time of major societal change: Research project report

ImaYDiT was funded by DRILL – Disability Research for Independent Living and Learning. This is supported by the Big Lottery Fund. WiltsCIL staff, members of WiltsCIL CoproductionGroup and researchers at UWE came up with the original idea for this project. We wanted to support young disabled people to explore and re-imagine their adult lives and have the best future. This involved taking an ‘assets-based’ approach. This is where we focus on what people can do- rather than what they can’t do – which is a ‘deficit approach’. We also thought that there is not enough research about the whole of young disabled people’s lives. Instead a lot of research only concentrates on transitions through the benefits and service system.Wiltshire Social Services and the Wiltshire Parent Council helped steer the project because, where we could, we also wanted to put young disabled people’s hopes and dreams into action.We want to understand how this group of young disabled people can be supported to become the next generation who are aware of their rights, with ambitions for their futures and able to establish meaningful and independent adult lives

Isotopic evidence of increasing water abundance and lake hydrological change in Old Crow Flats, Yukon, Canada

Lake-rich northern permafrost landscapes are sensitive to changing climate conditions, but ability to track real-time and potentially multiple hydrological responses (e.g. lake expansion, drawdown, drainage) is challenging due to absence of long-term, sustainable monitoring programs in these remote locations. Old Crow Flats (OCF), Yukon, is a Ramsar Wetland of International Importance where concerns about low water levels and their consequences for wildlife habitat and traditional ways of life prompted multidisciplinary studies during the International Polar Year (2007–2008) and led to the establishment of an aquatic ecosystem monitoring program. Here, we report water isotope data from 14 representative thermokarst lakes in OCF, the foundation of the monitoring program, and time-series of derived metrics including the isotope composition of input waters and evaporation-to-inflow ratios for a 13 year period (2007–2019). Although the lakes spanned multiple hydrological categories (i.e. rainfall-, snowmelt- and evaporation-dominated) based on initial surveys, well-defined trends from application of generalized additive models and meteorological records reveal that lakes have become increasingly influenced by rainfall, and potentially waters from thawing permafrost. These sources of input have led to more positive lake water balances. Given the documented role of rainfall in causing thermokarst lake drainage events in OCF and elsewhere, we anticipate increased vulnerability of lateral water export from OCF. This study demonstrates the value of long-term isotope-based monitoring programs for identifying hydrological consequences of climate change in lake-rich permafrost landscapes.Northern Scientific Training Program of Polar Knowledge Canad