Assessment of systemic genetic damage in pediatric inflammatory bowel disease

The etiology of distal site cancers in inflammatory bowel disease (IBD) is not well understood and requires further study. We investigated whether pediatric IBD patients' blood cells exhibit elevated levels of genomic damage by measuring the frequency of mutant phenotype (CD59-/CD55-) reticulocytes (MUT RET) as a reporter of PIG-A mutation, and the frequency of micronucleated reticulocytes (MN-RET) as an indicator of chromosomal damage. IBD patients (n = 18 new-onset disease, 46 established disease) were compared to age-matched controls (constipation or irritable bowel syndrome patients from the same clinic, n = 30) and young healthy adults age 19–24 (n = 25). IBD patients showed no indication of elevated MUT RET relative to controls (mean ± SD = 3.1 ± 2.3 × 10⁻⁶ vs. 3.6 ± 5.6 x 10⁻⁶, respectively). In contrast, 59 IBD patients where %MN-RET measurements were obtained, 10 exceeded the upper bound 90% tolerance interval derived from control subjects (i.e., 0.42%). Furthermore, each of the 10 IBD patients with elevated MN-RET had established disease (10/42), none were new-onset (0/17) (p = .049). Interestingly, each of the subjects with increased chromosomal damage was receiving anti-TNF based monotherapy at the time blood was collected (10/10, 100%), whereas this therapy was less common (20/32, 63%) among patients that exhibited ≤0.42% MN-RET (p = .040). The results clearly indicate the need for further work to understand whether the results presented herein are reproducible and if so, to elucidate the causative factor(s) responsible for elevated MN-RET frequencies in some IBD patients.     

Systematic review of cognitive deficits in adult mitochondrial disease

The profile and trajectory of cognitive impairment in mitochondrial disease are poorly defined. This systematic review sought to evaluate the current literature on cognition in mitochondrial disease, and to determine future research directions. A systematic review was conducted, employing PubMed, Medline, Psycinfo, Embase and Web of Science, and 360‐degree citation methods. English language papers on adult patients were included. The literature search yielded 2421 articles, of which 167 met inclusion criteria. Case reports and reviews of medical reports of patients yielded broad diagnoses of dementia, cognitive impairment and cognitive decline. In contrast, systematic investigations of cognitive functioning using detailed cognitive batteries identified focal cognitive rather than global deficits. Results were variable, but included visuospatial functioning, memory, attention, processing speed and executive functions. Conclusions from studies have been hampered by small sample sizes, variation in genotype and the breadth and depth of assessments undertaken. Comprehensive cognitive research with concurrent functional neuroimaging and physical correlates of mitochondrial disease in larger samples of well‐characterized patients may discern the aetiology and progression of cognitive deficits. These data provide insights into the pattern and trajectory of cognitive impairments, which are invaluable for clinical monitoring, health planning and clinical trial readiness.     

How does cultural capital keep you thin? Exploring unique aspects of cultural class that link social advantage to lower body mass index

A widely used indicator for cultural class is strongly related to a lower body mass index (BMI): cultural capital measured as ‘highbrow' taste. This study’s objective was to theorise and measure aspects of cultural class that are more plausibly linked to low BMI, and subsequently explore their relevance. Building on Bourdieusian theory we derive four of those aspects: ‘refinement’ (valuing form and appearance over function and substance), ‘asceticism’ (self-imposed constraints), ‘diversity’ (appreciation of variety in and of itself) and ‘reflexivity’ (reflexive deliberation and internal dialogue). Using standardised interviews with 597 participants in the Dutch GLOBE study in 2016, we subsequently demonstrate: (i) newly developed survey items can reliably measure four aspects of cultural class: ‘asceticism’, ‘general refinement’, ‘food refinement’ and ‘reflexivity’ (Cronbach’s alphas between 0.67–0.77); (ii) embodied/objectified cultural capital (i.e. ‘highbrow’ taste) was positively associated with general refinement, food refinement and reflexivity, whereas institutionalised cultural capital (i.e. education) was positively associated with asceticism and reflexivity; (iii) asceticism, general refinement, reflexivity, but not food refinement, were associated with a lower BMI; (iv) asceticism, general refinement and reflexivity together accounted for 52% of the association between embodied/objectified cultural capital and BMI, and 38% of the association between institutionalised cultural capital and BMI.