Publications by authors named "Anne Boerjesson Hanson"

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  • The study examines the integration of genomic data across NHS laboratories in England and Wales, highlighting variations in data structure, quality, and ease of local assembly for cancer susceptibility gene testing.
  • A survey of 51 clinical scientists revealed significant differences in how variant data is transferred, formatted, and classified within Laboratory Information Management Systems (LIMS) across the participating labs.
  • The findings indicate that current workflows are often inefficient and prone to errors due to their manual nature, suggesting that implementing recommended improvements could streamline data submission processes for better national and international collaboration.
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  • - The frequent renaming of medically significant fungi is complicating the work of clinical labs and healthcare providers, highlighting the need for better communication and resources in this area.
  • - Different factors drive name changes at the species and genus levels, prompting the authors to suggest maintaining larger genera and providing diagnostic markers for new classifications to help simplify identification.
  • - The authors call for an open-access online database to track these changes, recommending a committee to regularly review new names so that clinicians can access consistent and validated information about fungal species.
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  • The study examines refugees' experiences with care at an integrated clinic in Canada during their first year and their transition to community physicians.
  • A survey of 75 Government Assisted Refugees and interviews with 16 participants revealed that tailored care and good communication improved satisfaction.
  • Findings indicate that frequent visits and doctors’ advice correlate with better perceived health, suggesting that integrated clinics should better prepare refugees for their transition to community healthcare.
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N-methyl-D-aspartate (NMDA) receptors mediate a slow component of excitatory synaptic transmission, are widely distributed throughout the central nervous system, and regulate synaptic plasticity. NMDA receptor modulators have long been considered as potential treatments for psychiatric disorders including depression and schizophrenia, neurodevelopmental disorders such as Rett Syndrome, and neurodegenerative conditions such as Alzheimer's disease. New interest in NMDA receptors as therapeutic targets has been spurred by the findings that certain inhibitors of NMDA receptors produce surprisingly rapid and robust antidepressant activity by a novel mechanism, the induction of changes in the brain that well outlast the presence of drug in the body.

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Background: Nurses face many ethical challenges, placing them at risk for moral distress and burnout and challenging their ability to provide safe, high-quality patient care. Little is known about the sustainability of interventions to address this problem.

Objective: To determine the long-term impact on acute care nurses of a 6-session experiential educational program called the Mindful Ethical Practice and Resilience Academy (MEPRA).

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It's crucial to understand the perspective of nurses during the pandemic to determine actionable steps for moving forward. This analysis looks at nurses' perceptions of their organizations' effectiveness during the first surge of the COVID-19 pandemic and its impact on moral injury and moral resilience.

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Background: Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is limited information on the "real world" management of VHL disease.

Methods: A national audit of VHL disease in the United Kingdom.

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Objective: The aim of this study was to explore relationships between organizational factors and moral injury among healthcare workers and the impact of perceptions of their leaders and organizations during COVID-19.

Background: COVID-19 placed healthcare workers at risk for moral injury, which often involves feeling betrayed by people with authority and can impact workplace culture.

Methods: Secondary data from a Web-based survey of mid-Atlantic healthcare workers were analyzed using mixed methods.

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Purpose: The weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas (PCC/PGL), is uncertain.

Methods: We compared the frequency of SDHB and SDHD very rare missense variants (VRMVs) in 6328 and 5847 cases of PCC/PGL, respectively, with that of population controls to generate a pan-gene VRMV likelihood ratio (LR). Via windowing analysis, we measured regional enrichments of VRMVs to calculate the domain-specific VRMV-LR (DS-VRMV-LR).

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  • Lynch syndrome is a hereditary cancer syndrome linked to mutations in mismatch repair genes, increasing the risk for various cancers, especially colorectal and endometrial cancer, and recently identified as a risk factor for early-onset aggressive prostate cancer.
  • The IMPACT study, an international research project, is evaluating the effectiveness of prostate-specific antigen (PSA) screening among men aged 40-69 with and without these genetic variants to determine the incidence and characteristics of prostate cancer.
  • Initial findings from the first round of PSA screenings indicate differences in prostate cancer detection and characteristics between men with pathogenic variants compared to age-matched controls who do not carry these variants.
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The 2019 coronavirus (COVID-19) pandemic placed unprecedented strains on the U.S. health care system, putting health care workers (HCWs) at increased risk for experiencing moral injury (MI).

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  • Researchers studied the impact of new polygenic risk scores (PRS) for breast and prostate cancer on male carriers of BRCA1 and BRCA2 gene mutations, analyzing data from 1,801 individuals across these two genes.
  • The breast cancer PRS showed the strongest link to risk factors for BRCA1 and BRCA2 carriers, with specific odds ratios indicating increased risk associated with certain risk score variations.
  • The findings highlight the need for further research to tailor cancer risk assessments for male BRCA mutation carriers, which could improve their clinical management and outcomes.
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  • In 2008, guidelines were established for researching autophagy, which has since gained significant interest and new technologies, necessitating regular updates to monitoring methods across various organisms.
  • The new guidelines emphasize selecting appropriate techniques to evaluate autophagy while noting that no single method suits all situations; thus, a combination of methods is encouraged.
  • The document highlights that key proteins involved in autophagy also impact other cellular processes, suggesting genetic studies should focus on multiple autophagy-related genes to fully understand these pathways.
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Background: Ethical challenges in clinical practice significantly affect frontline nurses, leading to moral distress, burnout, and job dissatisfaction, which can undermine safety, quality, and compassionate care.

Objectives: To examine the impact of a longitudinal, experiential educational curriculum to enhance nurses' skills in mindfulness, resilience, confidence, and competence to confront ethical challenges in clinical practice.

Methods: A prospective repeated-measures study was conducted before and after a curricular intervention at 2 hospitals in a large academic medical system.

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  • The study examined how polygenic risk scores (PRS) for breast and ovarian cancers relate to risks for women with BRCA1 and BRCA2 gene variants.
  • It used data from nearly 32,000 female carriers to evaluate different versions of BC and EOC PRS, finding that specific scores were strongly linked to cancer risk.
  • Results indicated stronger associations between certain PRS and cancer risks, with implications for understanding absolute risk differences among women in different PRS groups.
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Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical sequencing has increased dramatically; and the range of clinical professionals involved in the process has broadened. There is general acceptance that our early dichotomous paradigms of variants being pathogenic-high risk and benign-no risk are overly simplistic.

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Background: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations.

Objective: To report the utility of PSA screening, PrCa incidence, positive predictive value of PSA, biopsy, and tumour characteristics after 3 yr of screening, by BRCA status.

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Some chemotherapies that treat childhood cancers have pulmonary-toxic properties that increase risk for adverse respiratory-health outcomes. PM causes similar outcomes but its effect among pulmonary compromised cancer survivors is unknown. This case-crossover study identified the PM-associated odds for primary-respiratory hospitalizations and emergency department visits among childhood cancer survivors in Utah.

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Adolescence is a critical time point in the lifecourse. LifeLab is an educational intervention engaging adolescents in understanding Developmental Origins of Health and Disease (DOHaD) concepts and the impact of the early life environment on future health, benefitting both their long-term health and that of the next generation. We aimed to assess whether engaging adolescents with DOHaD concepts improves scientific literacy and whether engagement alone improves health behaviours.

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Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families.

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Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have arisen in the provision of these tests across the UK, the UK Cancer Genetics Group facilitated a 1-day workshop with representation from the majority of National Health Service (NHS) clinical genetics services. Using a preworkshop survey followed by focused discussion of genes without prior majority agreement for inclusion, we achieved consensus for panels of cancer genes with sufficient evidence for clinical utility, to be adopted by all NHS genetics services.

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Whole-genome sequencing (WGS) is rapidly becoming the method of choice for outbreak investigations and public health surveillance of microbial pathogens. The combination of improved cluster resolution and prediction of resistance and virulence phenotypes provided by a single tool is extremely advantageous. However, the data produced are complex, and standard bioinformatics pipelines are required to translate the output into easily interpreted epidemiologically relevant information for public health action.

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The neuroendocrine glycoprotein chromogranin A is a useful biomarker for stress in humans. Chromogranin A epitopes catestatin and vasostatin can be measured in dogs using radioimmunoassays. The objective of this study was to evaluate catestatin and vasostatin as canine stress biomarkers in a clinical setting.

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