Mutation of TBCK causes a rare recessive developmental disorder

OBJECTIVE: To characterize the underlying genetic defect in a family with 3 siblings affected by a severe, yet viable, congenital disorder. METHODS: Extensive genetic and metabolic investigations were performed, and the affected children were imaged at different ages. Whole-genome genotyping and whole-exome sequencing were undertaken. A single large region (>8 Mb) of homozygosity in chromosome 4 (chr4:100,268,553-108,609,628) was identified that was shared only in affected siblings. Inspection of genetic variability within this region led to the identification of a novel mutation. Sanger sequencing confirmed segregation of the mutation with disease. RESULTS: All affected siblings share homozygosity for a novel 4-bp deletion in the gene TBCK (NM_033115:c.614_617del:p.205_206del). CONCLUSIONS: This finding provides the genetic cause of a severe inherited disease in a family and extends the number of mutations and phenotypes associated with this recently identified disease gene

Preventie op de camping:Resultaten van twee pilots in West-Brabant in het souterrain van de woningmarkt

Vanwege tekorten op de woningmarkt enerzijds en de moeizame exploitatie van recreatieparken anderzijds, is permanente bewoning op recreatieparken een structureel maatschappelijk verschijnsel geworden. Permanente bewoning is wettelijk niet toegestaan en kan samengaan met diverse vormen van sociale problematiek. De sociale crisis die ontstond op camping Fort Oranje is voor de GGD WestBrabant aanleiding geweest preventieve werkwijzen voor recreatieparken te ontwikkelen. Dit artikel beschrijft twee pilots die in dit verband werden opgezet. De ambitie was bewoners van recreatieparken in beeld te krijgen en waar nodig te ondersteunen, en om een stem te geven aan hun verhaal

Looking for interaction: quantitative measurement of research utilization by Dutch local health officials

Background: In the Netherlands, local authorities are required by law to develop local health memoranda, based on epidemiological analyses. The purpose of this study was to assess the actual use of these epidemiological reports by municipal health officials and associated factors that affect this use.Method: Based on a conceptual framework, we designed a questionnaire in which we operationalized instrumental, conceptual, and symbolic use, the interaction between researchers and local health officials, and four clusters of barriers in this interaction process. We conducted an internet survey among 155 Dutch local health officials representing 35% of all Dutch municipalities. By means of multiple regression analyses, we gained insight into the related factors for each of the three types of research utilization.Results: The results show that local health officials use epidemiological research more often in a conceptual than an instrumental or symbolic way. This can be explained by the complexity of the local policy process which is often linked to policies in other areas, and the various policy actors involved. Conceptual use was statistically associated with a presentation given by the epidemiologist during the policy process, the presence of obstructions regarding the report's accessibility, and the local official's personal belief systems and interests originating from different professional values and responsibilities. Instrumental and symbolic use increased with the involvement of local officials in the research process.Conclusions: The results of this study provide a partial solution to understanding and influencing research utilization. The quantitative approach underpins earlier qualitative findings on this topic. The outcomes suggest that RPHS epidemiologists can use different strategies to improve research utilization. 'Blurring the boundaries', and the enhancement of interfaces between epidemiologists and local health officials, like direct interactions into each other's work processes, is expected to create better possibilities for optimizing research use

Rethinking globalised resistance : feminist activism and critical theorising in international relations

This article argues that a feminist approach to the 'politics of resistance' offers a number of important empirical insights which, in turn, open up lines of theoretical inquiry which critical theorists in IR would do well to explore. Concretely, we draw on our ongoing research into feminist 'anti-globalisation' activism to rethink the nature of the subject of the politics of resistance, the conditions under which resistance emerges and how resistance is enacted and expressed. We begin by discussing the relationship of feminism to critical IR theory as a way of situating and explaining the focus and approach of our research project. We then summarise our key empirical arguments regarding the emergence, structure, beliefs, identities and practices of feminist 'anti-globalisation' activism before exploring the implications of these for a renewed critical theoretical agenda in IR

Інноваційна діяльність через впровадження технопарків

Досвід усього світу показує, що економічне зростання країн вже давно базується на використанні сфери знань і високих технологій, а їх ефективне поєднання гарантує прогресивний розвиток нації та людства. Однією з найбільш вдалих форм такої інтеграції є технопарки. Саме тому розвитку технопарків на сьогоднішній день приділяють увагу вчені та економісти. Основною метою статті є інноваційна діяльність через впровадження технологічних парків, їх призначення та вплив на розвиток країни

Reduced tillage, but not organic matter input, increased nematode diversity and food web stability in European long‐term field experiments

Soil nematode communities and food web indices can inform about the complexity, nutrient flows and decomposition pathways of soil food webs, reflecting soil quality. Relative abundance of nematode feeding and life‐history groups are used for calculating food web indices, i.e., maturity index (MI), enrichment index (EI), structure index (SI) and channel index (CI). Molecular methods to study nematode communities potentially offer advantages compared to traditional methods in terms of resolution, throughput, cost and time. In spite of such advantages, molecular data have not often been adopted so far to assess the effects of soil management on nematode communities and to calculate these food web indices. Here, we used high‐throughput amplicon sequencing to investigate the effects of tillage (conventional vs. reduced) and organic matter addition (low vs. high) on nematode communities and food web indices in 10 European long‐term field experiments and we assessed the relationship between nematode communities and soil parameters. We found that nematode communities were more strongly affected by tillage than by organic matter addition. Compared to conventional tillage, reduced tillage increased nematode diversity (23% higher Shannon diversity index), nematode community stability (12% higher MI), structure (24% higher SI), and the fungal decomposition channel (59% higher CI), and also the number of herbivorous nematodes (70% higher). Total and labile organic carbon, available K and microbial parameters explained nematode community structure. Our findings show that nematode communities are sensitive indicators of soil quality and that molecular profiling of nematode communities has the potential to reveal the effects of soil management on soil quality

Temporal variation in out-of-hospital cardiac arrest occurrence in individuals with or without diabetes

Objective: Out-of-hospital cardiac arrest (OHCA) occurrence has been shown to exhibit a circadian rhythm, following the circadian rhythm of acute myocardial infarction (AMI) occurrence. Diabetes mellitus (DM) is associated with changes in circadian rhythm. We aimed to compare the temporal variation of OHCA occurrence over the day and week between OHCA patients with DM and those without.Methods: In two population-based OHCA registries (Amsterdam Resuscitation Studies [ARREST] 2010-2016, n = 4163, and Danish Cardiac Arrest Registry [DANCAR], 2010-2014, n = 12,734), adults (≥18y) with presumed cardiac cause of OHCA and available medical history were included. Single and double cosinor analysis was performed to model circadian variation of OHCA occurrence. Stratified analysis of circadian variation was performed in patients with AMI as immediate cause of OHCA.Results: DM patients (22.8% in ARREST, 24.2% in DANCAR) were older and more frequently had cardiovascular risk factors or previous cardiovascular disease. Both cohorts showed 24 h-rhythmicity, with significant amplitudes in single and double cosinor functions (P-range &lt; 0.001). In both registries, a morning peak (10:00-11:00) and an evening peak (20:00-21:00) was observed in both DM and non-DM patients. No septadian variation was observed in either DM or non-DM patients (P-range 0.13-84).Conclusions: In these two population-based OHCA registries, we observed a similar circadian rhythm of OHCA occurrence in DM and non-DM patients.</p

Testing for the occurrence of pilchard herpesvirus (PHV) in South African sardine Sardinops sagax

Catches of South African sardine Sardinops sagax have declined in recent years from about 200 000 t harvested annually during the period 2002–2006 to less than 100 000 t. Consequently, some companies are now importing sardine from sources elsewhere in the world to meet local demand for canned sardine and bait. This importation has the potential for the introduction of sardine pathogens, in particular the pilchard herpesvirus (PHV), which could have a negative impact on the currently small South African sardine population. The aims of the current study were to determine whether PHV is present in the local sardine population and to assess the extent to which sardine is being imported into the country and whether imported fish are from countries where the virus is known to be endemic. Fish sampled from South Africa’s western (n = 150), southern (n = 182) and eastern (n = 96) putative stocks of S. sagax were analysed for the presence of PHV using real-time quantitative polymerase chain reaction (qPCR). The origin and amount of potentially infected material imported into South Africa during the period 2010–2014 was also assessed. None of the South African sardine collected during this study tested positive for PHV, suggesting that active PHV was not prevalent in the local population of S. sagax at the time of this study. Between 56 000 and 71 000 t of frozen sardine was imported annually into South Africa from countries where S. sagax occurs, including some from areas (Australia and New Zealand) where sardine infection by PHV is known to be endemic. Hence, it is plausible that the PHV pathogen, capable of perpetuating infections in local sardine populations, could be imported into South Africa along with the importation of frozen sardine. Should local sardine be naïve to the virus, as suggested by this study, then the population is at risk of infection and precautions against such must be taken.DHE