The natural progression of basal cell carcinomas (BCCs) awaiting surgical intervention.

Basal cell carcinomas (BCCs) are slow growing keratinocyte tumours with limited literature reporting the natural history of untreated BCCs. This study evaluated the natural progression and patient outcomes of BCCs whilst awaiting surgical intervention. Only patients with histologically proven BCCs were included in the data collection.

Impact of full personal protective equipment on alertness of healthcare workers: a prospective study.

The COVID-19 pandemic has resulted in healthcare workers (HCWs) having to wear full personal protective equipment (FPPE) even for routine patient care. When worn for prolonged periods, FPPE has the potential to adversely affect the ability of HCW to carry out their tasks. This study aimed to assess the impact of FPPE on the alertness levels of HCWs in the intensive care unit.

Hearing difficulty is linked to Alzheimer's disease by common genetic vulnerability, not shared genetic architecture.

Age-related hearing loss was recently established as the largest modifiable risk factor for Alzheimer's disease (AD), however, the reasons for this link remain unclear. We investigate shared underlying genetic associations using results from recent large genome-wide association studies (GWAS) on adult hearing difficulty and AD. Genetic correlation and Mendelian randomization (MR) analysis do not support a genetic correlation between the disorders, but suggest a direct causal link from AD genetic risk to hearing difficulty, driven by APOE.

Genome-wide association study suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank.

Tinnitus is a prevalent condition in which perception of sound occurs without an external stimulus. It is often associated with pre-existing hearing loss or noise-induced damage to the auditory system. In some individuals it occurs frequently or even continuously and leads to considerable distress and difficulty sleeping.

Self-reported hearing loss questions provide a good measure for genetic studies: a polygenic risk score analysis from UK Biobank.

Age-related hearing impairment (ARHI) is very common in older adults and has major impact on quality of life. The heritability of ARHI has been estimated to be around 50%. The present study aimed to estimate heritability and environmental contributions to liability of ARHI and the extent to which a polygenic risk score (PRS) derived from a recent genome-wide association study of questionnaire items regarding hearing loss using the UK Biobank is predictive of hearing loss in other samples.

Genetics of age-related hearing loss.

Age-related hearing loss (ARHL) has recently been confirmed as a common complex trait, that is, it is heritable with many genetic variants each contributing a small amount of risk, as well as environmental determinants. Historically, attempts to identify the genetic variants underlying the ARHL have been of limited success, relying on the selection of candidate genes based on the limited knowledge of the pathophysiology of the condition, and linkage studies in samples comprising related individuals. More recently genome-wide association studies have been performed, but these require very large samples having consistent and reliable phenotyping for hearing loss (HL), and early attempts suffered from lack of reliable replication of their findings.

Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.

Previous research has shown that genes play a substantial role in determining a person's susceptibility to age-related hearing impairment. The existing studies on this subject have different results, which may be caused by difficulties in determining the phenotype or the limited number of participants involved. Here, we have gathered the largest sample to date (discovery n = 9,675; replication n = 10,963; validation n = 356,141), and examined phenotypes that represented low/mid and high frequency hearing loss on the pure tone audiogram.

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.

Hearing relies on mechanically gated ion channels present in the actin-rich stereocilia bundles at the apical surface of cochlear hair cells. Our knowledge of the mechanisms underlying the formation and maintenance of the sound-receptive structure is limited. Utilizing a large-scale forward genetic screen in mice, genome mapping and gene complementation tests, we identified Clrn2 as a new deafness gene.

Metabolomic markers of fatigue: Association between circulating metabolome and fatigue in women with chronic widespread pain.

Background: Fatigue is a sensation of unbearable tiredness that frequently accompanies chronic widespread musculoskeletal pain (CWP) and inflammatory joint disease. Its mechanisms are poorly understood and there is a lack of effective biomarkers for diagnosis and onset prediction. We studied the circulating metabolome in a population sample characterised for CWP to identify biomarkers showing specificity for fatigue.