Face Validity of the Single Work Ability Item: Comparison with Objectively Measured Heart Rate Reserve over Several Days

Purpose: The purpose of this study was to investigate the face validity of the self-reported single item work ability with objectively measured heart rate reserve (%HRR) among blue-collar workers. Methods: We utilized data from 127 blue-collar workers (Female = 53; Male = 74) aged 18–65 years from the cross-sectional “New method for Objective Measurements of physical Activity in Daily living (NOMAD)” study. The workers reported their single item work ability and completed an aerobic capacity cycling test and objective measurements of heart rate reserve monitored with Actiheart for 3–4 days with a total of 5,810 h, including 2,640 working hours. Results: A significant moderate correlation between work ability and %HRR was observed among males (R = −0.33, P = 0.005), but not among females (R = 0.11, P = 0.431). In a gender-stratified multi-adjusted logistic regression analysis, males with high %HRR were more likely to report a reduced work ability compared to males with low %HRR [OR = 4.75, 95% confidence interval (95% CI) = 1.31 to 17.25]. However, this association was not found among females (OR = 0.26, 95% CI 0.03 to 2.16), and a significant interaction between work ability, %HRR and gender was observed (P = 0.03). Conclusions: The observed association between work ability and objectively measured %HRR over several days among male blue-collar workers supports the face validity of the single work ability item. It is a useful and valid measure of the relation between physical work demands and resources among male blue-collar workers. The contrasting association among females needs to be further investigated

Novel recessive myotilin mutation causes severe myofibrillar myopathy

We identified the first homozygous and hence recessive mutation in the myotilin gene (MYOT) in a family affected by a severe myofibrillar myopathy (MFM). MFM is a rare, progressive and devastating disease of human skeletal muscle with distinct histopathological pattern of protein aggregates and myofibrillar degeneration. So far, only heterozygous missense mutations in MYOT have been associated with autosomal dominant myofibrillar myopathy, limb-girdle muscular dystrophy type 1A and distal myopathy. Myotilin itself is highly expressed in skeletal and cardiac muscle and is localized at the Z-disc and therefore interacts in sarcomere assembly. We performed whole-exome sequencing in a German family clinically diagnosed with MFM and identified a homozygous mutation in exon 2, c.16C > G (p.Arg6Gly). Using laser microdissection followed by quantitative mass spectrometry, we identified the myotilin protein as one component showing the highest increased abundance in the aggregates in the index patient. We suggest that the combined approach has a high potential as a new tool for the confirmation of unclassified variants which are found in whole-exome sequencing approaches

Differences in fecal microbiota in different European study populations in relation to age, gender, and country: a cross-sectional study

A cross-sectional study on intestinal microbiota composition was performed on 230 healthy subjects at four European locations in France, Germany, Italy, and Sweden. The study participants were assigned to two age groups: 20 to 50 years (mean age, 35 years; n = 85) and >60 years (mean age, 75 years; n = 145). A set of 14 group- and species-specific 16S rRNA-targeted oligonucleotide probes was applied to the analysis of fecal samples by fluorescence in situ hybridization coupled with flow cytometry. Marked country-age interactions were observed for the German and Italian study groups. These interactions were inverse for the predominant bacterial groups Eubacterium rectale-Clostridium coccoides and Bacteroides-Prevotella. Differences between European populations were observed for the Bifidobacterium group only. Proportions of bifidobacteria were two- to threefold higher in the Italian study population than in any other study group, and this effect was independent of age. Higher proportions of enterobacteria were found in all elderly volunteers independent of the location. Gender effects were observed for the Bacteroides-Prevotella group, with higher levels in males than in females. In summary, age-related differences in the microbiota makeup were detected but differed between the study populations from the four countries, each showing a characteristic colonization pattern