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- Hagleitner, M M, et al.
(author)
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
- 2008
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In: Journal of medical genetics. - : BMJ. - 1468-6244. ; 45:2, s. 93-9
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Journal article (peer-reviewed)abstract
- BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations in the DNA methyltransferase gene DNMT3B in some, but not all, ICF patients. OBJECTIVE: To obtain a comprehensive description of the clinical features of this syndrome as well as genotype-phenotype correlations in ICF patients. METHODS: Data on ICF patients were obtained by literature search and additional information by means of questionnaires to corresponding authors. Results and CONCLUSIONS: 45 patients all with proven centromeric instability were included in this study. Facial dysmorphism was found to be a common characteristic (n = 41/42), especially epicanthic folds, hypertelorism, flat nasal bridge and low set ears. Hypo- or agammaglobulinaemia was demonstrated in nearly all patients (n = 39/44). Opportunistic infections were seen in several patients, pointing to a T cell dysfunction. Haematological malignancy was documented in two patients. Life expectancy of ICF patients is poor, especially those with severe infections in infancy or chronic gastrointestinal problems and failure to thrive. Early diagnosis of ICF is important since early introduction of immunoglobulin supplementation can improve the course of the disease. Allogeneic stem cell transplantation should be considered as a therapeutic option in patients with severe infections or failure to thrive. Only 19 of 34 patients showed mutations in DNMT3B, suggesting genetic heterogeneity. No genotype-phenotype correlation was found between patients with and without DNMT3B mutations.
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- Greef, T.J., et al.
(author)
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Connected media and presence
- 2013
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In: SAM 2013. - New York, NY, USA : ACM Press. - 9781450323949 ; , s. 43-48
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Conference paper (peer-reviewed)abstract
- Effective design of shared mediated spaces, information and connectedness requires theory and practice from a range of disciplines such as found in European projects like Together Anywhere, Together Anytime (TA2) and the EIT ICT Labs Mediating Presence activity. Building on this work we continue to investigate the changes in the European digital media industry such as changed traditional distribution of media content and the progressive integration of (social) communication means in information distribution and shared mediated spaces. Our past research has given valuable insights in how to design and evaluate systems and services that provide a high quality of experience, in how trust is established in mediated environments, and how the formation of tacit communication between participants in new distributed and connected media is negotiated. In the new Seventh Framework Program project COnnected Media and Presence from European Institute of Technology (COMPEIT) we aim to enhance the quality of experience in face-to-face and broadcast communication further in three domains: 1) Spatial connectedness, 2) Social connectedness and 3) Information connectedness, by developing three key services: Shared Experience with Tangible Interaction (SETI); Broadcast Presence Studio (BPS) and Mixed-Reality Interaction (MRI). The quality of experience of these services will be enhanced in terms of for example: spatial connectedness, by providing shared spaces and supporting spatial features such as eye contact; social connectedness, by using natural means for interaction suiting different settings and activities; and information connectedness, by providing better means to share, manipulate and use information suiting different task or activities. In this paper we will discuss the background of this work and give an overview of our planned future work in COMPEIT.
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- de Greef, Evelien, et al.
(author)
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Genomic architecture of migration timing in a long-distance migratory songbird
- 2023
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In: Scientific Reports. - : Springer Nature. - 2045-2322. ; 13:1
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Journal article (peer-reviewed)abstract
- The impact of climate change on spring phenology poses risks to migratory birds, as migration timing is controlled predominantly by endogenous mechanisms. Despite recent advances in our understanding of the underlying genetic basis of migration timing, the ways that migration timing phenotypes in wild individuals may map to specific genomic regions requires further investigation. We examined the genetic architecture of migration timing in a long-distance migratory songbird (purple martin, Progne subis subis) by integrating genomic data with an extensive dataset of direct migratory tracks. A moderate to large amount of variance in spring migration arrival timing was explained by genomics (proportion of phenotypic variation explained by genomics = 0.74; polygenic score R-2 = 0.24). On chromosome 1, a region that was differentiated between migration timing phenotypes contained genes that could facilitate nocturnal flights and act as epigenetic modifiers. Overall, these results advance our understanding of the genomic underpinnings of migration timing.
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- de Greef, Tjerk J., et al.
(author)
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Shared mediated workspaces
- 2012
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Conference paper (peer-reviewed)abstract
- Shared mediated spaces provide viable alternatives for meetings and interactions. The development of collaborative mediated workspaces and shared negotiation spaces will have a fundamental impact on all human practices. Previous design-led research, has identified spatial design concepts, such as mediated gaze, and spatial montage, which, if unaddressed, may be said to impose friction, and thus impact negatively on the experience of mediated presence. The current paper discusses a set of conceptual tools for presence design, in relation to a prototype that is currently being developed by an interdisciplinary academic work group: The Mediated Sketching Table. The prototype combines analogue and digital interaction tools and technologies including HTML5 and WebRTC. Here, we present our initial observations when using the prototype and discuss possible ways to overcome design friction in the prototype. We acknowledge that mediated presence cannot be ensured by design or technology alone. However, by monitoring various design features, presence designers can seek to reduce the friction that otherwise inhibits mediated presence, mutual trust, knowledgesharing, and teamwork efficiency.
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- Dontje, Manon L, et al.
(author)
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Daily Physical Activity in Stable Heart Failure Patients
- 2014
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In: Journal of Cardiovascular Nursing. - : Lippincott Williams & Wilkins. - 0889-4655 .- 1550-5049. ; 29:3, s. 218-226
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Journal article (peer-reviewed)abstract
- BACKGROUND:: Physical activity is the only nonpharmacological therapy that is proven to be effective in heart failure (HF) patients in reducing morbidity. To date, little is known about the levels of daily physical activity in HF patients and about related factors.OBJECTIVE:: The objectives of this study were to (a) describe performance-based daily physical activity in HF patients, (b) compare it with physical activity guidelines, and (c) identify related factors of daily physical activity.METHODS:: The daily physical activity of 68 HF patients was measured using an accelerometer (SenseWear) for 48 hours. Psychological characteristics (self-efficacy, motivation, and depression) were measured using questionnaires. To have an indication how to interpret daily physical activity levels of the study sample, time spent on moderate- to vigorous-intensity physical activities was compared with the 30-minute activity guideline. Steps per day was compared with the criteria for healthy adults, in the absence of HF-specific criteria. Linear regression analyses were used to identify related factors of daily physical activity.RESULTS:: Forty-four percent were active for less than 30 min/d, whereas 56% were active for more than 30 min/d. Fifty percent took fewer than 5000 steps per day, 35% took 5000 to 10 000 steps per day, and 15% took more than 10 000 steps per day. Linear regression models showed that New York Heart Association classification and self-efficacy were the most important factors explaining variance in daily physical activity.CONCLUSIONS:: The variance in daily physical activity in HF patients is considerable. Approximately half of the patients had a sedentary lifestyle. Higher New York Heart Association classification and lower self-efficacy are associated with less daily physical activity. These findings contribute to the understanding of daily physical activity behavior of HF patients and can help healthcare providers to promote daily physical activity in sedentary HF patients.
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