Berufsspezifische arbeits- und ernährungsbedingte Herz-Kreislauf-Risiken sowie präventive Maßnahmen

Köche hatten gegenüber Büroarbeitskräften hinsichtlich der untersuchten Risikofaktoren ein signifikant erhöhtes Risiko für HKE. Unter die Hauptrisikofaktoren zählten in beiden beobachteten Gruppen Übergewicht/Adipositas sowie erhöhte Gesamtcholesterinkonzentrationen. Küchenangestellte lagen gemessen an Krankenkassendaten im Vergleich mit anderen Berufsgruppen im Risikomittelfeld hinsichtlich Ischämischer Herzkrankheiten. Das Ernährungsverhalten der Köche ergab sich nicht unmittelbar aus den Arbeitsbedingungen, sondern war nach eigenen Angaben bewusst gewählt. Das hieraus folgende erhöhte Risiko war deshalb nicht arbeitsbedingt. Das Nahrungsangebot verleitete die Köche nicht dazu, mehr zu essen, sondern (laut Fragebogen) anders auszuwählen. Daraus resultierten signifikant erhöhte Gesamtcholesterin-, Apolipoprotein Bund Harnsäurekonzentrationen sowie ein erhöhter Anteil an gesättigten Fettsäuren in der Erythrocytenmembran verglichen zu Büroangestellten. Eine Kost reich an trans-Fettsäuren stellte, bezogen auf die analysierten Anteile in den Erythrocytenmembranen, keinen zusätzlichen Risikofaktor für Köche dar. Fehlende Unterschiede in den Plasma-Phytosterolkonzentrationen der beiden Berufsgruppen legten einen geringen bzw. keinen Einfluss des Ernährungsstils nahe. Aufgrund der Existenz eines Probanden mit Phytosterolämie in der Studienpopulation wurde der Nutzen von phytosterolangereicherten Lebensmitteln als Functional Food in vorliegender Arbeit kritisch diskutiert. Er ist aus ernährungswissenschaftlicher Sicht nicht genügend evidenzbasiert und aus diesem Grund für eine ausgewogene Ernährung in Frage zu stellen

Work and diet-related risk factors of cardiovascular diseases: comparison of two occupational groups

<p>Abstract</p> <p>Background</p> <p>Although work related risk factors associated with Cardiovascular Diseases (CD) have been well researched, there is no detailed knowledge regarding disparate occupational groups each with a different risk exposition. Therefore, two occupational groups (chefs and office workers) were compared with a focus on nutritional and psychosocial factors.</p> <p>Methods</p> <p>Two groups of subjects were tested for work and diet-related risks of CD (45 chefs and 48 office workers). The groups matched both for gender (male) and age (30 to 45 years). The study included a medical check-up, bioelectrical impedance analysis as well as an evaluation of questionnaires on health, nutritional behaviour and coping capacity. In addition, volunteers were required to compile a 7-day-dietary-record and collect their urine 24 h prior to their check-up. Blood samples drawn were analysed for glucose and lipid metabolism, homocysteine, vitamin B₁₂, folic acid; C-reactive protein, uric acid, red blood cell fatty acids, plant sterols, antioxidative capacity and oxidative stress.</p> <p>Results</p> <p>On average, the chefs showed one risk factor more compared to the office workers. The most frequent risk factors in both groups included overweight/obesity (chef group [CG]: 62.2%; office group [OG]: 58.3%) and elevated TC (CG: 62.2%; OG: 43.8%]. Moreover, although the chefs often had higher CRP-concentrations (40.0%), more office workers suffered from hypertension (37.5%).</p> <p>Chefs showed significant higher concentrations of saturated fatty acids and oleic acid, whereas docosahexaenoic acid, Omega-6- and <it>trans </it>fatty acids were found more frequently in the red blood cell membranes of office workers. While there were no significant differences in analysed plant sterols between the two occupational groups, 7,8-dihydro-8-oxo-2'-deoxyguanosine was significantly increased in office workers.</p> <p>Concerning the work-related psychosocial factors, the chefs were characterised by a stronger subjective importance of work, a greater degree of professional aspiration and enhanced efforts at perfectionism at their workplace.</p> <p>Conclusions</p> <p>The chefs in the study bear a higher risk of CD compared to the office-workers. Although, CD is not exclusively a result of workplace-conditions, study results show that work-related influences can not be ignored. Thus, prevention of CD may be an important task attributable to occupational physicians.</p

Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

Lysosomal storage disorders (LSDs) occur at a frequency of 1 in every 5,000 live births and are a common cause of pediatric neurodegenerative disease. The relatively small number of patients with LSDs and lack of validated biomarkers are substantial challenges for clinical trial design. Here, we evaluated the use of a commercially available fluorescent probe, Lysotracker, that can be used to measure the relative acidic compartment volume of circulating B cells as a potentially universal biomarker for LSDs. We validated this metric in a mouse model of the LSD Niemann-Pick type C1 disease (NPC1) and in a prospective 5-year international study of NPC patients. Pediatric NPC subjects had elevated acidic compartment volume that correlated with age-adjusted clinical severity and was reduced in response to therapy with miglustat, a European Medicines Agency–approved drug that has been shown to reduce NPC1-associated neuropathology. Measurement of relative acidic compartment volume was also useful for monitoring therapeutic responses of an NPC2 patient after bone marrow transplantation. Furthermore, this metric identified a potential adverse event in NPC1 patients receiving i.v. cyclodextrin therapy. Our data indicate that relative acidic compartment volume may be a useful biomarker to aid diagnosis, clinical monitoring, and evaluation of therapeutic responses in patients with lysosomal disorders

Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia

Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD—5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS). Of these individuals with DVD, all 12 for whom parental DNA was available showed absence of a paternal copy of FOXP2. Five other individuals with deletions of paternally inherited FOXP2 but with incomplete clinical information or phenotypes too complex to properly assess are also described. Four of the patients with DVD also meet criteria for autism spectrum disorder. Individuals with paternal UPD7 or with partial maternal UPD7 or deletion starting downstream of FOXP2 do not have DVD. Using quantitative real-time polymerase chain reaction, we show the maternally inherited FOXP2 to be comparatively underexpressed. Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development