Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis

We report a 16-year-old female patient with a severe course of multiple sclerosis and concomitant symptoms suggestive of a hereditary autoinflammatory disease. Genetic analyses revealed that she inherited a TNFRSF1A R92Q mutation from her mother and a pyrin E230K mutation from her father. To our knowledge, this is the first report of a patient with severe childhood multiple sclerosis and mutations in two genes which predispose to hereditary autoinflammatory disorders. We speculate that these mutations contribute to early multiple sclerosis manifestation and enhance the inflammatory damage inflicted by the autoimmune response

Functional and evolutionary consequences of cranial fenestration in birds

Ostrich-like birds (Palaeognathae) show very little taxonomic diversity while their sister taxon (Neognathae) contains roughly 10,000 species. The main anatomical differences between the two taxa are in the crania. Palaeognaths lack an element in the bill called the lateral bar that is present in both ancestral theropods and modern neognaths, and have thin zones in the bones of the bill, and robust bony elements on the ventral surface of their crania. Here we use a combination of modeling and developmental experiments to investigate the processes that might have led to these differences. Engineering-based finite element analyses indicate that removing the lateral bars from a neognath increases mechanical stress in the upper bill and the ventral elements of the skull, regions that are either more robust or more flexible in palaeognaths. Surgically removing the lateral bar from neognath hatchlings led to similar changes. These results indicate that the lateral bar is load-bearing and suggest that this function was transferred to other bony elements when it was lost in palaeognaths. It is possible that the loss of the load-bearing lateral bar might have constrained diversification of skull morphology in palaeognaths and thus limited taxonomic diversity within the group. This is the peer reviewed version of the following article: Gussekloo, S. W., Berthaume, M. A., Pulaski, D. R., Westbroek, I. , Waarsing, J. H., Heinen, R. , Grosse, I. R. and Dumont, E. R. (2017), Functional and evolutionary consequences of cranial fenestration in birds. Evolution, 71: 1327-1338., which has been published in final form at 10.1111/evo.13210. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions

Doelen stellen en leefstijlveranderingen in het Lively Legs programma: welke kenmerken maken het verschil

FSW - Self-regulation models for health behavior and psychopathology - ou

Methylxanthines enhance the effects of cocoa flavanols on cardiovascular function: randomized, double-masked controlled studies

Background: Cocoa flavanol intake, especially that of (−)-epicatechin, has been linked to beneficial effects on human cardiovascular function. However, cocoa also contains the methylxanthines theobromine and caffeine, which may also affect vascular function. Objective: We sought to determine whether an interaction between cocoa flavanols and methylxanthines exists that influences cocoa flavanol–dependent vascular effects. Design: Test drinks that contained various amounts of cocoa flavanols (0–820 mg) and methylxanthines (0–220 mg), either together or individually, were consumed by healthy volunteers (n = 47) in 4 different clinical studies—3 with a randomized, double-masked crossover design and 1 with 4 parallel crossover studies. Vascular status was assessed by measuring flow-mediated vasodilation (FMD), brachial pulse wave velocity (bPWV), circulating angiogenic cells (CACs), and blood pressure before and 2 h after the ingestion of test drinks. Results: Although cocoa flavanol intake increased FMD 2 h after intake, the consumption of cocoa flavanols with methylxanthines resulted in a greater enhancement of FMD. Methylxanthine intake alone did not result in statistically significant changes in FMD. Cocoa flavanol ingestion alone decreased bPWV and diastolic blood pressure and increased CACs. Each of these changes was more pronounced when cocoa flavanols and methylxanthines were ingested together. It is important to note that the area under the curve of the plasma concentration of (−)-epicatechin metabolites over time was higher after the co-ingestion of cocoa flavanols and methylxanthines than after the intake of cocoa flavanols alone. Similar results were obtained when pure (−)-epicatechin and the methylxanthines theobromine and caffeine were consumed together. Conclusion: A substantial interaction between cocoa flavanols and methylxanthines exists at the level of absorption, in which the methylxanthines mediate an increased plasma concentration of (−)-epicatechin metabolites that coincides with enhanced vascular effects commonly ascribed to cocoa flavanol intake

FT-IR investigations of BEDO-TTF and radical salts of BEDO-TTF

We investigated powder absorption spectra of the donor BEDO-TTF and some radical salts of BEDO-TTF, which are metals even at low temperatures. After an assignment of the bands in the neutral donor we found in the radical salts different vibrational frequencies of bands correlated with C-O vibrations. These frequencies are directly related to the average charge on the donor molecule. Additionally frequencies of CH2-stretching vibrations exhibit differences, which can be ascribed to a varying strength of donor-anion interaction depending on the respective anion

Cross-protection against European swine influenza viruses in the context of infection immunity against the 2009 pandemic H1N1 virus : studies in the pig model of influenza

Pigs are natural hosts for the same influenza virus subtypes as humans and are a valuable model for cross-protection studies with influenza. In this study, we have used the pig model to examine the extent of virological protection between a) the 2009 pandemic H1N1 (pH1N1) virus and three different European H1 swine influenza virus (SIV) lineages, and b) these H1 viruses and a European H3N2 SIV. Pigs were inoculated intranasally with representative strains of each virus lineage with 6- and 17-week intervals between H1 inoculations and between H1 and H3 inoculations, respectively. Virus titers in nasal swabs and/or tissues of the respiratory tract were determined after each inoculation. There was substantial though differing cross-protection between pH1N1 and other H1 viruses, which was directly correlated with the relatedness in the viral hemagglutinin (HA) and neuraminidase (NA) proteins. Cross-protection against H3N2 was almost complete in pigs with immunity against H1N2, but was weak in H1N1/pH1N1-immune pigs. In conclusion, infection with a live, wild type influenza virus may offer substantial cross-lineage protection against viruses of the same HA and/or NA subtype. True heterosubtypic protection, in contrast, appears to be minimal in natural influenza virus hosts. We discuss our findings in the light of the zoonotic and pandemic risks of SIVs

WHO European Childhood Obesity Surveillance Initiative: Impact of Type of Clothing Worn during Anthropometric Measurements and Timing of the Survey on Weight and Body Mass Index Outcome Measures in 6–9-Year-Old Children

Background. The World Health Organization European Childhood Obesity Surveillance Initiative (COSI) conducted examinations in 6–9-year-old children from 16 countries in the first two rounds of data collection. Allowing participating countries to adhere to their local legal requirements or adapt to other circumstances required developing a flexible protocol for anthropometric procedures. Objectives. (1) Review intercountry variation in types of clothing worn by children during weight and height measurements, clothes weight adjustments applied, timing of the survey, and duration of data collection; (2) assess the impact of the observed variation in these practices on the children’s weight or body mass index (BMI) outcome measures. Results. The relative difference between countries’ unadjusted and clothes-adjusted prevalence estimates for overweight was 0.3–11.5%; this figure was 1.4–33.3% for BMI-for-age Z-score values. Monthly fluctuations in mean BMI-for-age Z-score values did not show a systematic seasonal effect. The majority of the monthly BMI-for-age Z-score values did not differ statistically within a country; only 1–3 monthly values were statistically different within some countries. Conclusions. The findings of the present study suggest that the built-in flexibility in the COSI protocol concerning the data collection practices addressed in the paper can be kept and thus do not necessitate a revision of the COSI protocol.info:eu-repo/semantics/publishedVersio