Genedrive kit for detecting single nucleotide polymorphism m.1555A>G in neonates and their mothers: a systematic review and cost-effectiveness analysis.

Background: Neonates with suspected sepsis are commonly treated with gentamicin, an aminoglycoside. These antibiotics are associated with high risk of ototoxicity, including profound bilateral deafness, in people with the m.1555A>G mitochondrial genetic variant.

Effectiveness and implementation of lower-intensity weight management interventions delivered by the non-specialist workforce in postnatal women: a mixed-methods systematic review.

Lower-intensity interventions delivered in primary and community care contacts could provide more equitable and scalable weight management support for postnatal women. This mixed-methods systematic review aimed to explore the effectiveness, implementation, and experiences of lower-intensity weight management support delivered by the non-specialist workforce. We included quantitative and qualitative studies of any design that evaluated a lower-intensity weight management intervention delivered by non-specialist workforce in women up to 5 years post-natal, and where intervention effectiveness (weight-related and/or behavioural outcomes), implementation and/or acceptability were reported.

A mapping exercise using automated techniques to develop a search strategy to identify systematic review tools.

The Systematic Review Toolbox aims provide a web-based catalogue of tools that support various tasks within the systematic review and wider evidence synthesis process. Identifying publications surrounding specific systematic review tools is currently challenging, leading to a high screening burden for few eligible records. We aimed to develop a search strategy that could be regularly and automatically run to identify eligible records for the SR Toolbox, thus reducing time on task and burden for those involved.

Clinical and cost effectiveness of endoscopic bipolar radiofrequency ablation for the treatment of malignant biliary obstruction: a systematic review.

Background: Early evidence suggests that using radiofrequency ablation as an adjunct to standard care (i.e. endoscopic retrograde cholangiopancreatography with stenting) may improve outcomes in patients with malignant biliary obstruction.

Are non-invasive or minimally invasive autopsy techniques for detecting cause of death in prenates, neonates and infants accurate? A systematic review of diagnostic test accuracy.

Objectives: To assess the diagnostic accuracy of non-invasive or minimally invasive autopsy techniques in deaths under 1 year of age.

Design: This is a systematic review of diagnostic test accuracy. The protocol is registered on PROSPERO.

The Systematic Review Toolbox: keeping up to date with tools to support evidence synthesis.

Background: The Systematic Review (SR) Toolbox was developed in 2014 to collate tools that can be used to support the systematic review process. Since its inception, the breadth of evidence synthesis methodologies has expanded greatly. This work describes the process of updating the SR Toolbox in 2022 to reflect these changes in evidence synthesis methodology.

Effectiveness and cost-effectiveness of oral nutritional supplements in frail older people who are malnourished or at risk of malnutrition: a systematic review and meta-analysis.

Background: Current management of malnutrition can include prescribed oral nutritional supplements (ONS); however, there is uncertainty whether these supplements are effective in people who are older (≥65 years) and frail. We assessed the effectiveness, cost-effectiveness, and adherence and acceptability of ONS in frail older people who are malnourished or at risk of malnutrition.

Methods: In this systematic review and meta-analysis, five bibliographic databases (MEDLINE, EMBASE, Cochrane Library, Scopus, and CINAHL) and grey literature sources were searched from inception to Sept 13, 2021, to identify studies assessing the effectiveness and cost-effectiveness of ONS (with or without other dietary interventions) in frail older people who are malnourished or at risk of malnutrition.

The damage-independent evolution of ageing by selective destruction.

Ageing is widely believed to reflect the accumulation of molecular damage due to energetic costs of maintenance, as proposed in disposable soma theory (DST). Here we use agent-based modelling to describe an alternative theory by which ageing could undergo positive selection independent of energetic costs. We suggest that the selective advantage of aberrant cells with fast growth might necessitate a mechanism of counterselection we name selective destruction that specifically removes the faster cells from tissues, preventing the morbidity and mortality risks they pose.

Investigation of text-mining methodologies to aid the construction of search strategies in systematic reviews of diagnostic test accuracy-a case study.

Current methodologies for designing search strategies rely heavily on the knowledge and expertise of information specialists. Yet, the volume and complexity of scientific literature is overwhelming for even the most experienced information specialists, making it difficult to produce robust search strategies for complex systematic reviews. In this case study, we aimed to assess and describe the benefits and limitations of using semi-automated text-mining tools for designing search strategies in a systematic review of diagnostic test accuracy.

Does moderate alcohol consumption accelerate the progression of liver disease in NAFLD? A systematic review and narrative synthesis.

Objectives: Liver disease is a leading cause of premature death, partly driven by the increasing incidence of non-alcohol-related fatty liver disease (NAFLD). Many people with a diagnosis of NAFLD drink moderate amounts of alcohol. There is limited guidance for clinicians looking to advise these patients on the effect this will have on their liver disease progression.

A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations.

Disease caused by mutations of mitochondrial DNA (mtDNA) are highly variable in both presentation and penetrance. Over the last 30 years, clinical recognition of this group of diseases has increased. It has been suggested that haplogroup background could influence the penetrance and presentation of disease-causing mutations; however, to date there is only one well-established example of such an effect: the increased penetrance of two Complex I Leber's hereditary optic neuropathy mutations on a haplogroup J background.

COVID-19 Impact on Diagnostic Innovations: Emerging Trends and Implications.

Diagnostic testing remains the backbone of the coronavirus disease 2019 (COVID-19) response, supporting containment efforts to mitigate the outbreak. The severity of this crisis and increasing capacity issues associated with polymerase chain reaction (PCR)-based testing, accelerated the development of diagnostic solutions to meet demands for mass testing. The National Institute for Health Research (NIHR) Innovation Observatory is the national horizon scanning organization in England.

What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?

Mitochondrial disorders are heterogeneous, showing variable presentation and penetrance. Over the last three decades, our ability to recognize mitochondrial patients and diagnose these mutations, linking genotype to phenotype, has greatly improved. However, it has become increasingly clear that these strides in diagnostics have not benefited all population groups.

Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations.

Mitochondrial diseases are a highly complex, heterogeneous group of disorders. Mitochondrial DNA variants that are linked to disease can exhibit variable expression and penetrance. This has an implication for mitochondrial diagnostics as variants that cause disease in one individual may not in another.

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.

Mitochondrial DNA (mtDNA) mutations are maternally inherited and are associated with a broad range of debilitating and fatal diseases. Reproductive technologies designed to uncouple the inheritance of mtDNA from nuclear DNA may enable affected women to have a genetically related child with a greatly reduced risk of mtDNA disease. Here we report the first preclinical studies on pronuclear transplantation (PNT).