Long-term clinical and economic outcomes in previously untreated paediatric patients with severe haemophilia A : A nationwide real-world study with 700 person-years

AimFor previously untreated patients (PUPs) with severe haemophilia A in Finland for the past 2 decades, the standard practice has been to start early primary prophylaxis. We evaluated the long-term clinical outcomes and costs of treatment with high-dose prophylaxis in PUPs from birth to adolescence, including immune tolerance induction (ITI). MethodsFrom the medical records of all PUPs born between June 1994 and May 2013 in Finland, we retrospectively extracted data on clinical outcomes and healthcare use. Using linear mixed models, we analysed longitudinal clinical outcome data. To analyse skewed cost data, including zero costs, we applied hurdle regression. ResultsAll 62 patients received early regular prophylaxis; totally, they have had treatment for nearly 700 patient-years. The median age of starting home treatment was 1.1years. The mean (SD) annual treatment costs (Europerkg) were 4391Euro (3852). For ages 1-3, ITI comprised over half of the costs; in other groups, prophylactic FVIII treatment dominated. With these high costs, however, clinical outcomes were desirable; median (IQR) ABR was low at 0.19 (0.07-0.46) and so was AJBR at 0.06 (0-0.24). Thirteen (21%) patients developed a clinically significant inhibitor, 10 (16%) with a high titre. All ITIs were successful. The mean costs for ITI were 383448Euro (259085). The expected ITI payback period was 1.81 (95% CI 0.62-12.12) years. ConclusionsEarly high-dose prophylaxis leads to excellent long-term clinical outcomes, and early childhood ITI therapy seems to turn cost-neutral generally already in 2years.Peer reviewe

QUANTUM SIZE EFFECT IN BISMUTH NANOSTRUCTURES

Here we experimentally demonstrate that in single-crystalline semimetal bismuth nanostructures the electronic resistance non-monotonously increases with reduction of the size of the samples. The experimental findings are in reasonable agreement with theory predictions.Работа была подготовлена в ходе проведения исследований в рамках программы «Научный фонд Национального исследовательского университета Высшая школа экономики (НИУ ВШЭ)» в 2016-17 гг. НУГ № 16-05-0029 «Физика низкоразмерных квантовых систем»

‘Hey, teach these kids to eat their own food!’: Institutional intergroup contact in immigrant mothers' talk

Although informal segregation often persists in multiethnic neighbourhoods, local institutions offering public services may act as an important setting for intergroup contact. Therefore, we studied how immigrant mothers of young children discursively construct institutional intergroup contact with workers of public playgrounds and kindergartens. We conducted longitudinal interviews with 10 immigrant mothers three times over the period of a year in 2 multi-ethnic neighbourhoods in Helsinki, Finland. Using Critical Discursive Psychology, we analysed respondents' talk about the encounters and identified three interpretative repertoires: 'contact as asserting rights', 'contact as helping', and 'contact as cultural rectification'. Our analysis showed how mothers positioned themselves and the workers differently in terms of agency and power in each repertoire. Our findings stress the importance of studying people's own sense-making of institutional contact, with different roles for participants, and that construction of agency within institutional contact is important for building equal membership in society. Please refer to the Supplementary Material section to find this article's Community and Social Impact Statement

High-k GaAs metal insulator semiconductor capacitors passivated by ex-situ plasma-enhanced atomic layer deposited AlN for Fermi-level unpinning

This paper examines the utilization of plasma-enhanced atomic layer deposition grown AlN in the fabrication of a high-kinsulator layer on GaAs. It is shown that high-kGaAsMIS capacitors with an unpinned Fermi level can be fabricated utilizing a thin ex-situ deposited AlNpassivation layer. The illumination and temperature induced changes in the inversion side capacitance, and the maximum band bending of 1.2 eV indicates that the MIS capacitor reaches inversion. Removal of surface oxide is not required in contrast to many common ex-situ approaches.Peer reviewe

Quantum fluctuations in ultranarrow superconducting nanowires

Progressive reduction of the effective diameter of a nanowire is applied to trace evolution of the shape of superconducting transition $R(T)$ in quasi-one-dimensional aluminum structures. In nanowires with effective diameter $\leq$ 15 nm the $R(T)$ dependences are much wider than predicted by the model of thermally activated phase slips. The effect can be explained by quantum fluctuations of the order parameter. Negative magnetoresistance is observed in the thinest samples. Experimental results are in reasonable agreement with existing theoretical models. The effect should have a universal validity indicating a breakdown of zero resistance state in a superconductor below a certain scale.Comment: 18 pages, 5 figure

Spatial Modeling of Local-Scale Biogenic and Anthropogenic Carbon Dioxide Emissions in Helsinki

There is a growing need to simulate the effect of urban planning on both local climate and greenhouse gas emissions. Here, a new urban surface carbon dioxide (CO2) flux module for the Surface Urban Energy and Water Balance Scheme is described and evaluated using eddy covariance observations at two sites in Helsinki in 2012. The spatial variability and magnitude of local-scale anthropogenic and biogenic CO2 flux components at high spatial (250 m x 250 m) and temporal (hourly) resolution are examined by combining high-resolution (down to 2 m) airborne lidar-derived land use data and mobility data to account for people's movement. Urban effects are included in the biogenic components parameterized using urban eddy covariance and chamber observations. Surface Urban Energy and Water Balance Scheme reproduces the seasonal and diurnal variability of the CO2 flux well. Annual totals deviate 3% from observations in the city center and 2% in a suburban location. In the latter, traffic is the dominant CO2 source but summertime vegetation partly offsets traffic-related emissions. In the city center, emissions from traffic and human metabolism dominate and the vegetation effect is minor due to the low proportion of vegetation surface cover (22%). Within central Helsinki, human metabolism accounts for 39% of the net local-scale emissions and together with road traffic is to a large extent responsible for the spatial variability of the emissions. Annually, the biogenic emissions and sinks are in near balance and thus the effect of vegetation on the carbon balance is small in this high-latitude city.Peer reviewe

Distribution of immunodeficiency fact files with XML – from Web to WAP

BACKGROUND: Although biomedical information is growing rapidly, it is difficult to find and retrieve validated data especially for rare hereditary diseases. There is an increased need for services capable of integrating and validating information as well as proving it in a logically organized structure. A XML-based language enables creation of open source databases for storage, maintenance and delivery for different platforms. METHODS: Here we present a new data model called fact file and an XML-based specification Inherited Disease Markup Language (IDML), that were developed to facilitate disease information integration, storage and exchange. The data model was applied to primary immunodeficiencies, but it can be used for any hereditary disease. Fact files integrate biomedical, genetic and clinical information related to hereditary diseases. RESULTS: IDML and fact files were used to build a comprehensive Web and WAP accessible knowledge base ImmunoDeficiency Resource (IDR) available at . A fact file is a user oriented user interface, which serves as a starting point to explore information on hereditary diseases. CONCLUSION: The IDML enables the seamless integration and presentation of genetic and disease information resources in the Internet. IDML can be used to build information services for all kinds of inherited diseases. The open source specification and related programs are available at

Ion beam shaping and downsizing of nanostructures

We report a new approach for progressive and well-controlled downsizing of nanostructures below the 10 nm scale. Low energetic ion beam (Ar+) is used for gentle surface erosion, progressively shrinking the dimensions with ~ 1 nm accuracy. The method enables shaping of nanostructure geometry and polishing the surface. The process is clean room / high vacuum compatible being suitable for various applications. Apart from technological advantages, the method enables study of various size phenomena on the same sample between sessions of ion beam treatment.Comment: 14 pages, 6 figure

Quality of life and late-effects among childhood brain tumor survivors: a mixed method analysis

BackgroundReports on the quality of life (QOL) of childhood brain tumor (BT) survivors have been inconsistent. As cognitive limitations may restrict their participation in questionnaire-based studies, our aim was to evaluate in depth the QOL with a mixed-method analysis. MethodsThe 5-year survivors of childhood BTs born in 1975-2000 and alive in 2010 were identified via the Finnish Cancer Registry and treating clinics. Twenty-one survivors (32%) participated in a mixed-method analysis including 15D (a general health-related QOL questionnaire), the Beck Depression Inventory, and a qualitative semi-structured interview. ResultsBased on the 15D-questionnaire, the BT survivors had an impaired health-related QOL in several dimensions such as speech and usual activities. On the other hand, no difference was found in other dimensions such as distress or vitality. A majority (95%) of the survivors showed no increased risk for depression. The qualitative interview revealed that the most important aspects affecting the QOL of the survivors were positive mental growth, negative conceptions concerning illness, living one day at a time, age at diagnosis, time since diagnosis, social relationships, learning disabilities and limitations in vocational opportunities, limitations in independent life, and changed understanding of the term health'. ConclusionsChildhood BT survivors have heterogeneous attitudes on QOL. The survivors assess social aspects to be more important than functionality for their QOL. Social concerns should actively be brought up to offer support for those with significant social difficulties. Interventions for social difficulties should be more actively developed. Copyright (c) 2015 John Wiley & Sons, Ltd.</p

A Rare Disease Patient Manager

ABSTRACT publicado: 6th International Conference on Practical Applications of Computational Biology & Bioinformatics (PACBB. Salamanca, 28-30 Março 2012The personal health implications behind rare diseases are seldom considered in widespread medical care. The low incidence rate and complex treatment process makes rare disease research an underrated field in the life sciences. However, it is in these particular conditions that the strongest relations between genotypes and phenotypes are identified. The rare disease patient manager, detailed in this manuscript, presents an innovative perspective for a patient-centric portal integrating genetic and medical data. With this strategy, patient’s digital records are transparently integrated and connected to wet-lab genetics research in a seamless working environment. The resulting knowledge base offers multiple data views, geared towards medical staff, with patient treatment and monitoring data; genetics researchers, through a custom locus-specific database; and patients, who for once play an active role in their treatment and rare diseases research