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Background: Technological developments and discussions around autonomy and paternalism in clinical practice have made the return of Incidental findings (IFs) from clinical sequencing a hotly debated topic. Limited guidance and empirical evidence, combined with the recognition that both patients and professionals should be supported in what can be a life-changing experience, make the investigation of this topic both necessary and timely. To that end, the attitudes of clinical professionals were sought regarding clinical sequencing and the discovery of IFs. Methods: The attitudes of genetics professionals were investigated through a mixed-method research project conducted in two phases. Phase I consisted of a qualitative cross-national comparison using interviews with genetics experts from three countries, Greece, the UK and the USA; phase II was a quantitative piece of work using an online questionnaire with Greek geneticists. Results: Professionals showed a reluctance towards widely using clinical sequencing or returning IFs, due to the lack of a comprehensive practice framework, their limited ability to interpret genomic results, consent practices that need updating and the familial nature of genomic information inevitably affecting others than the patient. Moreover, Greek professionals reported a lack of practical support and no recognised medical specialties of clinical genetics and genetic counselling, rendering the management of IFs even more challenging. To better support their patients, Greek professionals urgently asked for guidance and support to help them integrate clinical sequencing into their professional practice and manage IFs. Conclusion: A points-to-consider document for Greece was created based on the literature and an analysis of empirical data collected. This guidance, prepared using quality criteria, took examples from other countries, but with country-specific characteristics taken into account. It is based on the bioethical principles of respect and fostering trust. It is aimed at supporting Greek genetic services providers in their practice and the patients who use those services.

Chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) is characterised by persistent unexplained fatigue resulting in severe impairment in daily functioning. CFS-like illnesses have been reported as early as the 19`h century. The lack of a recognisable, organic cause has lead to the illness and diagnosis being steeped in controversy, with researchers and patients disagreeing on the name given to the illness, the absence of pathophysiology, the contribution of psychological/emotional factors and the effectiveness of treatments such as cognitive behaviour therapy (CBT). Despite this debate, CBT has been the most researched treatment, with an evidence base that has shown that CBT improves fatigue in some patients. However, the current CBT treatment has some weaknesses and a significant proportion of patients do not respond. One such weakness is that the current CBT treatment model may not sufficiently address rumination and attention which have been identified as potentially important features of CFS/ME. Little is known about the factors that might drive the use of these strategies and how they might relate to the various facets of the illness. It has been shown that perseverative thinking strategies, such as rumination and attentional hypervigilence, in anxiety and depression can be influenced by metacognitive beliefs (beliefs an individual holds about their thinking). It may therefore be of interest to investigate this in CFS/ME. The main aim of the research was to generate preliminary evidence that metacognitive beliefs play a role in CFS/ME. The role of rumination and attention were explored by looking at the metacognitive strategies that people with CFS/ME use and the metacognitive beliefs they hold about such strategies. The research was a mixed methods design and consisted of a series of studies concerned with the development and validation of a questionnaire to measure metacognitive beliefs in CFS/ME (MB-CFQ): 1) a thematic analysis was conducted on transcripts from 10 semi-structured interviews with CFS/ME patients; 2) the results of the thematic analysis were used to design a questionnaire which was piloted in 104 CFS/ME patients and a principal components analysis was conducted; and. 3) a correlation analysis was conducted to provide some preliminary validation. The MB-CFQ showed high internal consistency and preliminary evidence of concurrent and construct validity. The questionnaire was used to investigate relationships between fatigue, metacognition and low mood. The data showed that, in CFS/ME, holding positive and negative metacognitive beliefs about the use of perseverative thinking strategies, including worry, rumination, and body monitoring (negative beliefs only), related positively to levels of fatigue (in particular mental fatigue), depression, stress, and anxiety. The results of this exploratory study now require further research to disentangle this observed relationship between metacognition, fatigue and mood.

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Campylobacter jejuni is a microaerobic bacterium that possesses complex mechanisms to counter oxidative stress to be able to survive in the presence of reactive oxygen species (ROS). Re-annotation of the C. jejuni NCTC 11168 genome sequence identified two putative MarR-type transcriptional regulators Cj1546 and Cj1556, originally annotated as hypothetical proteins, now designated as RrpA and RrpB (regulator of response to peroxide). Both rrpA and rrpB mutants exhibit increased sensitivity to hydrogen peroxide stress compared to the wild-type strain and both mutants exhibit reduced levels of catalase (KatA) activity. However, neither mutant exhibited any significant difference in sensitivity to either cumene hydroperoxide or menadione oxidative stresses, indicating that RrpA and RrpB do not regulate expression of either alkylhydroperoxide (AhpC) or superoxide dismutase (SodB). rrpA and rrpB mutants exhibit increased biofilm formation, probably due to accumulation of ROS within the cells. Preliminary RNA-seq analysis indicated reduced katA expression in the rrpA mutant, but no differences in katA expression was observed in the rrpB mutant or rrpAB double mutant compared to the wild-type strain. C. jejuni strains normally contain rrpA, whilst only a subset contained rrpB. C. jejuni strains containing both genes were more associated with livestock-associated MLST clonal complexes. The presence of rrpB is linked to a hypervariable region containing the IF subtype of the type I Restriction-Modification (hsd) system, whereas strains containing only rrpA contain the IAB subtype hsd system. Analysis of 43 Brazilian strains identified that most chicken meat isolates contained both genes, whilst most human isolates contained only rrpA. The predominant presence of rrpB in livestock-associated C. jejuni MLST-types suggests an important role for fine-tuning oxidative stress responses through the concerted actions of multiple regulatory proteins in this microaerophilic pathogen. It also highlights the potential of genetic variation in the natural population in the adaptation to different environmental niches.

The current research attempted to understand individual differences in dyslexia by investigating potential sex differences (behavioural, cognitive and remedial), subtypes and predictors of symptom severity. The results did not specifically support the hypothesis that behavioural factors were related to the increased number of male dyslexics reported in the literature. Cognitive sex differences were identified on the months forwards subtest of the Bangor Dyslexia Test and on the digit span, coding and symbol search subtests from WAIS-IIIUK. In all cases, females outperformed males. Although the ACID, AVID and SCAD profiles were not found to characterise the performance of either sex, performance on the ACID, AVID and SCAD factor scores appeared more related to dyslexia in males. The findings indicated that sex differences may affect the manifestation of dyslexia related problems. Male and female dyslexics did not differ with regard to the level, rate or endurance of improvement following different methods of spelling instruction. Rather than sex, reading ability was found to predict spelling improvement following intervention. The adult dyslexics studied continued to show deficits on a range of tasks usually used to assessd yslexia in children. Although it was possiblet o divide the adult dyslexics into phonological and surfaces ubtypes,s ubsequenta nalysesd esignedt o assessth e utility of this classification system suggestedth at the validity of the subtypesw as questionable. Similar measures were found to predict the reading ability of dyslexic and non-dyslexic adults. However, the groups differed with regard to predictors of spelling and reading comprehension ability. Severity differences in one or several underlying core deficits were considered a more meaningful way of accounting for individual differences in dyslexia than the existence of distinct subtypes.

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Cullenus eximius omnes febres dividit in intermitterntes et Continuas. Intermittentes, de quibus, non omnino volens, sed huic Academiae illustrissimae morem gerens, pauca hic disserere mihi consilium est, sic definiuntur : "Febres, miasmate paludum ortae, paroxysmis pluribus, apyrexia, saltem remissione evidentae interposita, cum exacerbatione notibili, et plerumque cum horrore, redeuntibus, constantes : paroxysmo quovis die unico tantum."