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- Millar, D S, et al.
(author)
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Molecular genetic analysis of severe protein C deficiency
- 2000
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In: Human Genetics. - : Springer Science and Business Media LLC. - 1432-1203 .- 0340-6717. ; 106:6, s. 646-653
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Journal article (peer-reviewed)abstract
- Severe protein C deficiency is a rare, early onset, venous thrombotic condition that is inherited as an autosomal recessive trait. The protein C (PROC) genes of nine unrelated individuals with severe protein C deficiency were sequenced yielding a total of 13 different lesions. Eight of these were novel, including a gross gene deletion, three missense mutations, two micro-deletions, a splicing mutation and a single base-pair substitution in the HNF-3 binding site in the PROC gene promoter. Evidence for the pathogenicity of the mutations detected was obtained by molecular modelling, in vitro splicing assay and reporter gene assay. Neither the plasma protein C activity level nor the nature of the PROC gene lesions detected were found to be a good prognostic indicator of the age of onset or clinical severity of thrombotic symptoms. Other factors may thus complicate the relationship between genotype and clinical phenotype. Indeed, in two patients, the inheritance of either one or two Factor V Leiden alleles in addition to two PROC gene lesions could have served to precipitate the thrombotic events. No association was however apparent between clinical severity and the possession of a particular promoter polymorphism genotype. Despite the absence of a clear genotype-phenotype relationship, the molecular genetic analysis of the severe recessive form of protein C deficiency potentiates both the counselling of affected families and the provision of antenatal exclusion diagnosis.
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| 4. |
- Kaufmann, M., et al.
(author)
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Satellite observations of daytime and nighttime ozone in the mesosphere and lower thermosphere
- 2003
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In: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 108:9
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Journal article (peer-reviewed)abstract
- The global distribution of mesospheric and lower thermospheric ozone 9.6 μm infrared emissions was measured by the Cryogenic Infrared Spectrometers and Telescopes for the Atmosphere (CRISTA) experiment during two Space Shuttle missions in November 1994 and August 1997. The radiances measured by CRISTA have been inverted to O3 number densities in the 50-95 km range by using a nonlocal thermodynamic equilibrium model. A detailed sensitivity study of retrieved O3 number densities has been carried out. The ozone abundance profiles show volume mixing ratios of 1-2 ppmv at the stratopause, 0.5 ppmv or less around 80 km, and typically 1 ppmv during daytime and 10 ppmv during nighttime at the secondary maximum. The agreement with other experiments is typically better than 25%. The global distribution of upper mesospheric ozone shows significant latitudinal gradients and an enhancement in the equatorial upper mesosphere. At the polar night terminator a third ozone maximum is observed. Three-dimensional model results indicate that the latitudinal gradients are significantly influenced by solar tides.
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| 6. |
- Markevich, V.P., et al.
(author)
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Electronic properties of vacancy-oxygen complexes in SiGe alloys
- 2003
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In: Physica. B, Condensed matter. - : Elsevier BV. - 0921-4526 .- 1873-2135. ; 340, s. 790-4
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Journal article (peer-reviewed)abstract
- Capacitance transient techniques, combined with ab initio modeling, were employed to study the electronic properties and structure of vacancy-oxygen (VO) complexes in unstrained Czochralski-grown Si1-xGex crystals (0
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| 7. |
- Perez-Torres, M. A., et al.
(author)
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High-resolution radio imaging of young supernovae
- 2004
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Reports (other academic/artistic)abstract
- The high resolution obtained through the use of VLBI gives an unique opportunity to directly observe the interaction of an expanding radio supernova with its surrounding medium. We present here results from our VLBI observations of the young supernovae SN 1979C, SN 1986J, and SN 2001gd.
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| 8. |
- Priebe, S., et al.
(author)
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The impact of routine outcome measurement on treatment processes in community mental health care – approach and methods of the MECCA study
- 2002
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In: Epidemiologia e Psichiatria Sociale-An International Journal for Epidemiology and Psychiatric Sciences. - 1121-189X. ; 11:3, s. 198-205
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Journal article (peer-reviewed)abstract
- Three issues characterise the background to the MECCA study: A) Throughout Europe, most patients with severe forms of psychotic disorders are cared for in the community. The challenge now is to make processes in community mental health care more effective. B) There are widespread calls to implement regular outcome measurement in routine settings. This, however, is more likely to happen, if it provides a direct benefit to clinicians and patients. C) Whilst user involvement is relatively easy to achieve on a political level, new mechanisms may have to be established to make the views of patients feed into individual treatment decisions. The MECCA study is a cluster randomised controlled trial following the same protocol in community mental health teams in six European countries. In the experimental group, patients' subjective quality of life, treatment satisfaction and wishes for different or additional help are assessed in key worker-patient meetings every two months and intended to inform the therapeutic dialogue and treatment decisions. The trial tests the hypothesis that the intervention--as compared to current best standard practice--will lead to a better outcome in terms of quality of life and other criteria in patients with psychotic disorders over a one year period. This more favourable outcome is assumed to be mediated through different treatment input based on more appropriate joint decisions or a more positive therapeutic relationship in line with a partnership model of care or both. Moreover, the study will hopefully reveal new insights into how therapeutic processes in community mental health care work and how they can be optimised.
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| 10. |
- Zankovych, S, et al.
(author)
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Nanoimprint-induced effects on electrical and optical properties of quantum well structures
- 2003
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In: Microelectronic Engineering (Proceedings of the 28th International Conference on Micro- and Nano-Engineering). - 0167-9317 .- 1873-5568. ; 67-8, s. 214-220
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Conference paper (peer-reviewed)abstract
- A study of optical and transport properties of semiconductor quantum well structures subjected to nanoimprint lithography (NIL), with its pressure and temperature cycles, has been undertaken to ascertain if this lithography technique induces detrimental changes in these properties of the active layers over a range of pressures and temperatures, typically used in this printing process. Ga0.47In0.53As-InP and GaAs-Al0.3Ga0.7As multiple quantum well samples were investigated. Luminescence and the photoluminescence excitation were recorded before and after printing. No impact upon the luminescence energy and intensity were detected. From the photoluminescence spectrum no evidence of induced strain was found. The magneto transport experiments yielded no evidence of deterioration of neither the mobility nor carrier concentration of a two-dimensional electron gas in a modulation-doped Ga0.25In0.75As/InP heterostructure. Results on samples subjected to the NIL process over a wide range of applied pressure and temperature are presented and discussed. (C) 2003 Elsevier Science B.V. All rights reserved.
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