Objective: Caregivers play an essential role in supporting people with Alzheimer's disease globally. User-informed research is vital to developing trans-cultural guidelines for dementia support organisations. While coping strategies of caregivers are well researched, the 'coping-effectiveness' framework falls short of representing all caregiver needs.
View Article and Find Full Text PDFBackground And Aim: This study applied Six Sigma metrics to facilitate the quality control (QC) review for hospital glucose meters.
Materials And Methods: QC data from a period of six months on all hospital glucose meters were extracted from the data management system. Sigma values for each meter at two QC levels were calculated and evaluated each month by combining the imprecision, the absolute bias between the meter mean and all-meter mean, and the standards from ISO 15179:2013.
Aphantasia is characterised by the inability to create mental images in one's mind. Studies investigating impairments in imagery typically focus on the visual domain. However, it is possible to generate many different forms of imagery including imagined auditory, kinesthetic, tactile, motor, taste and other experiences.
View Article and Find Full Text PDFHydrocephalus is a common neurological condition, the hallmark feature of which is an excess in production, or accumulation, of cerebrospinal fluid in the ventricles. Although it is associated with diffuse damage to paraventricular brain areas, patients are broadly typified by a particular pattern of cognitive impairments that include deficits in working memory, attention, and spatial abilities. There have, however, been relatively few neuropsychological accounts of the condition.
View Article and Find Full Text PDFBackground: The European Society for Medical Oncology Precision Medicine Working Group (ESMO PMWG) was reconvened to update its 2018/19 recommendations on follow-up of putative germline variants detected on tumour-only sequencing, which were based on an analysis of 17 152 cancers.
Methods: We analysed an expanded dataset including 49 264 paired tumour-normal samples. We applied filters to tumour-detected variants based on variant allele frequency, predicted pathogenicity and population variant frequency.
Background: Breast cancer has a significant heritable basis, of which ∼60% remains unexplained. Testing for BRCA1/BRCA2 offers useful discrimination of breast cancer risk within families, and identification of additional breast cancer susceptibility genes could offer clinical utility.
Patients And Methods: We included 2135 invasive breast cancer cases recruited via the Breast and Ovarian Cancer Susceptibility study, a retrospective UK study of familial breast cancer.
Cancer Epidemiol Biomarkers Prev
September 2022
Background: Testicular germ cell tumors (TGCT), histologically classified as seminomas and nonseminomas, are believed to arise from primordial gonocytes, with the maturation process blocked when they are subjected to DNA methylation reprogramming. SNPs in DNA methylation machinery and folate-dependent one-carbon metabolism genes have been postulated to influence the proper establishment of DNA methylation.
Methods: In this pathway-focused investigation, we evaluated the association between 273 selected tag SNPs from 28 DNA methylation-related genes and TGCT risk.
Aim: This study was conducted in three phases. Phase 1 aimed to adapt the Cancer Information Overload Scale and conduct content validity testing. Phase 2 aimed to conduct factorial validity testing of the scale.
View Article and Find Full Text PDFAphantasia describes the experience of individuals who self-report a lack of voluntary visual imagery. It is not yet known whether individuals with aphantasia show deficits in cognitive and neuropsychological tasks thought to relate to aspects of visual imagery, including Spatial Span, One Touch Stocking of Cambridge, Pattern Recognition Memory, Verbal Recognition Memory and Mental Rotation. Twenty individuals with congenital aphantasia (VVIQ < 25) were identified and matched on measures of age and IQ to twenty individuals with typical imagery (VVIQ > 35).
View Article and Find Full Text PDFPurpose: 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).
Purpose: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little evidence for variation in practice.
Methods: We used as a truthset 7541 dichotomous functional classifications of BRCA1 and MSH2, spanning 311 codons of BRCA1 and 918 codons of MSH2, generated from large-scale functional assays that have been shown to correlate excellently with clinical classifications.
Background: The emergence of COVID-19 has substantially impacted frontline health care workers, including nurse managers. To date, no studies have been conducted to examine the impact COVID-19 has had on Nurse Managers' mental health, coping strategies and organisational commitment.
Aim: To investigate the mental health, coping behaviours, and organisational commitment among Nurse Managers during the COVID-19 pandemic.
Testicular germ cell tumors (TGCT) are the most common tumor in young white men and have a high heritability. In this study, the international Testicular Cancer Consortium assemble 10,156 and 179,683 men with and without TGCT, respectively, for a genome-wide association study. This meta-analysis identifies 22 TGCT susceptibility loci, bringing the total to 78, which account for 44% of disease heritability.
View Article and Find Full Text PDFPurpose: Where multiple in silico tools are concordant, the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework affords supporting evidence toward pathogenicity or benignity, equivalent to a likelihood ratio of ~2. However, limited availability of "clinical truth sets" and prior use in tool training limits their utility for evaluation of tool performance.
Methods: We created a truth set of 9,436 missense variants classified as deleterious or tolerated in clinically validated high-throughput functional assays for BRCA1, BRCA2, MSH2, PTEN, and TP53 to evaluate predictive performance for 44 recommended/commonly used in silico tools.
Cancer Epidemiol Biomarkers Prev
June 2021
Background: Studies evaluating the association between peripheral blood leukocyte telomere length (LTL) and testicular germ cell tumor (TGCT) risk have produced conflicting results.
Methods: Using available genotype data from the Testicular Cancer Consortium (TECAC), polygenic risk score and Mendelian randomization analyses of genetic variants previously associated with LTL were used to assess potential etiologic associations between telomere length and TGCT risk.
Results: Genetically inferred telomere length was not associated with TGCT risk among 2,049 cases and 6,921 controls with individual-level genotype data (OR, 1.
Insights into oncogenesis derived from cancer susceptibility loci (SNP) hold the potential to facilitate better cancer management and treatment through precision oncology. However, therapeutic insights have thus far been limited by our current lack of understanding regarding both interactions of these loci with somatic cancer driver mutations and their influence on tumorigenesis. For example, although both germline and somatic genetic variation to the p53 tumor suppressor pathway are known to promote tumorigenesis, little is known about the extent to which such variants cooperate to alter pathway activity.
View Article and Find Full Text PDFWearable camera photo review has successfully been used to enhance memory, yet very little is known about the underlying mechanisms. Here, the sequential presentation of wearable camera photos - a key feature of wearable camera photo review - is examined using behavioural and EEG measures. Twelve female participants were taken on a walking tour, stopping at a series of predefined targets, while wearing a camera that captured photographs automatically.
View Article and Find Full Text PDFBackground: The COVID-19 pandemic posed and continues to pose challenges for health care systems globally, particularly to Intensive Care Units (ICU). At the forefront of the ICU are highly trained nurses with a professional obligation to care for patients with COVID-19 despite the potential to become infected. The aim of this study was to explore ICU nurses' willingness to care during the COVID-19 pandemic.
View Article and Find Full Text PDFThe cortisol awakening response (CAR) is associated with various aspects of cognition, including executive function, in older adult and clinical samples. However, the association between these variables in the healthy functioning population is not well understood due to the limited number of appropriately controlled studies. This study explored the association between the CAR and a set shifting index of executive function in 55 (44 females) healthy participants aged 20.
View Article and Find Full Text PDFBackground: Decentralised nursing stations (DCNs) have gained popularity in new hospital designs owing to their positive impact on patient safety. However, the impact on the nurses' working environment and on continuity and quality of patient care is limited.
Objectives: The objective of this study was to describe nurses' perceptions and experiences of the working environment and of patient care in a decentralised intensive care unit (ICU).
Little is known about our autobiographical memories for cultural events. This represents an opportunity for cultural institutions such as museums, as examination of visitor memories is one way in which they can seek to understand the long-term impact they may have on their visitors. This research applied a coding model developed from autobiographical memory theory to analysis of participants' memories for museum visits, considering the distribution of memories across the life span, types of memories and content.
View Article and Find Full Text PDFBackground: During the COVID-19 lockdown, referrals via the 2-week-wait urgent pathway for suspected cancer in England, UK, are reported to have decreased by up to 84%. We aimed to examine the impact of different scenarios of lockdown-accumulated backlog in cancer referrals on cancer survival, and the impact on survival per referred patient due to delayed referral versus risk of death from nosocomial infection with severe acute respiratory syndrome coronavirus 2.
Methods: In this modelling study, we used age-stratified and stage-stratified 10-year cancer survival estimates for patients in England, UK, for 20 common tumour types diagnosed in 2008-17 at age 30 years and older from Public Health England.
Q J Exp Psychol (Hove)
November 2020
This study is the first to demonstrate that a self-defining period (SP) for personally relevant music emerges spontaneously in a public naturalistic setting. While previous research has demonstrated that people tend to have better memory and preference for songs from their teenage years, the theoretical relevance of these studies has been limited by their reliance on forced-choice methodology and a confinement to contemporary popular Western music. Here, we examine the record choices of famous guests ( = 80; mean age = 61.
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