Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

Autozygosity mapping (AM) is a technique utilised for mapping homozygous autosomal recessive (AR) traits and facilitation of genetic diagnosis. We investigated the utility of AM for the molecular diagnosis of heterogeneous AR disorders, using epidermolysis bullosa (EB) as a paradigm. We applied this technique to a cohort of 46 distinct EB families using both short tandem repeat (STR) and genome‐wide single nucleotide polymorphism (SNP) array‐based AM to guide targeted Sanger sequencing of EB candidate genes. Initially, 39 of the 46 cases were diagnosed with homozygous mutations using this method. Independently, 26 cases, including the seven initially unresolved cases, were analysed with an EB‐targeted next‐generation sequencing (NGS) panel. NGS identified mutations in five additional cases, initially undiagnosed due to the presence of compound heterozygosity, deep intronic mutations or runs of homozygosity below the set threshold of 2 Mb, for a total yield of 44 of 46 cases (95.7%) diagnosed genetically.     

Magnetic hyperthermia therapy for the treatment of glioblastoma: a review of the therapy’s history,efficacy and application in humans

Hyperthermia therapy (HT) is the exposure of a region of the body to elevated temperatures to achieve a therapeutic effect. HT anticancer properties and its potential as a cancer treatment have been studied for decades. Techniques used to achieve a localised hyperthermic effect include radiofrequency, ultrasound, microwave, laser and magnetic nanoparticles (MNPs). The use of MNPs for therapeutic hyperthermia generation is known as magnetic hyperthermia therapy (MHT) and was first attempted as a cancer therapy in 1957. However, despite more recent advancements, MHT has still not become part of the standard of care for cancer treatment. Certain challenges, such as accurate thermometry within the tumour mass and precise tumour heating, preclude its widespread application as a treatment modality for cancer. MHT is especially attractive for the treatment of glioblastoma (GBM), the most common and aggressive primary brain cancer in adults, which has no cure. In this review, the application of MHT as a therapeutic modality for GBM will be discussed. Its therapeutic efficacy, technical details, and major experimental and clinical findings will be reviewed and analysed. Finally, current limitations, areas of improvement, and future directions will be discussed in depth.     

Impact of pharmacist interventions during transition of care in older adults to reduce the use of healthcare services: A scoping review

BackgroundCurrent literature has shown increasing risk of error in transition of care between different healthcare settings, especially in the older population. Moreover, drug-related hospital readmission has been reported due to lack of appropriate communication. However, the literature is not clear about the impact of pharmacist interventions during transition of care of older adults on the reduction in use of healthcare services.ObjectiveThe goal of the scoping review was to describe the impact of pharmacist interventions during transitions of care for older adults on the use of healthcare services.MethodsMEDLINE was searched for randomized controlled trials and controlled studies that analyzed pharmacist interventions during transition of care of older adults with regard to use of healthcare services. Four reviewers, grouped in pairs, independently screened all references published from 1990 to 2019 and extracted and analyzed the data. A pharmaceutical model of 8 pharmacist-led interventions was adapted from literature to compare the included studies.ResultsThere were 1527 publications screened, 17 of which met inclusion criteria. Pharmacist-led interventions decreased the use of healthcare services in 11 of these studies. The majority of studies were of very good or good quality based on Mixed Methods Appraisal Tool. Pharmacist were implicated at all times during the transition of care process (i.e. admission/during stay, discharge and post-discharge) in 4 of the effective studies, whereas none did in the not effective studies. More interventions were accomplished by pharmacists in studies with positive outcomes.ConclusionBy diversifying their interventions at different moments throughout transition of care, pharmacists can reduce the use of healthcare services for older adults during transition of care. This scoping review also shows the need to better understand key components of post-discharge interventions and to have a dynamic pharmaceutical model accepted by the scientific community.     

Sleep hygiene behaviours mediate the association between health/e-health literacy and mental wellbeing

Background

Health literacy and e-health literacy are important factors helping people shape awareness of health behaviours in different aspects, including sleep hygiene behaviours. Good sleep hygiene behaviours promote sleep quality and are beneficial to overall mental wellbeing.

Objective

We aimed to examine if sleep hygiene behaviours may mediate the association between health literacy/e-health literacy and mental wellbeing.

Methods

Adult Iranian subjects (n = 9775; mean [SD] age = 36.44 [11.97] years; 67.3% females) completed the Health Literacy Instrument for Adults, eHealth Literacy Scale, three items on sleep hygiene behaviour that have been used in prior research and the Short Warwick Edinburgh Mental Wellbeing Scale. Data were then subjected to structural equation modelling (SEM) including 500 bootstrapping resampling to examine whether sleep hygiene is a mediator in the relationship between health literacy/e-health literacy and mental wellbeing.

Findings

Both health literacy and e-health literacy were significantly associated with mental wellbeing (r = .63 for health literacy and .39 for e-health literacy; p < .001) and sleep hygiene behaviours (r = .58 for health literacy and .36 for e-health literacy; p < .001). Sleep hygiene behaviours were significantly associated with mental wellbeing (r = .42; p < .001). Moreover, SEM that incorporated bootstrapping approaches indicated that sleep hygiene behaviours were significant mediators in the association between health literacy/e-health literacy and mental wellbeing.

Conclusions

We conclude that health literacy and e-health literacy are associated with mental health wellbeing in the Iranian population. Additionally, the association could be mediated via sleep hygiene behaviours.

Patient or Public Contribution

The study was co-designed with healthcare providers from the vice-Chancellor's Office for Health Affairs of Qazvin University of Medical Sciences as equal partners. Moreover, the women's health volunteers were involved in the design of the study.