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- Carlsson, G, et al.
(författare)
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Central nervous system involvement in severe congenital neutropenia : neurological and neuropsychological abnormalities associated with specific HAX1 mutations
- 2008
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 264:4, s. 388-400
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: Homozygous mutations in the HAX1 gene were recently identified in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden. Our observations suggested that these patients also develop neurological and neuropsychological symptoms. METHODS: Detailed clinical studies and mutation analyses were performed in the surviving patients belonging to the Kostmann kindred and in two patients not related to this family, along with studies of HAX1 splice variant expression in normal human tissues. RESULTS: Five of six Kostmann family patients and one other patient from northern Sweden harboured homozygous HAX1 mutations (568C-->T, Q190X) and one carried a heterozygous ELA2 gene mutation. One Swedish patient of Kurdish extraction carried alternative homozygous HAX1 mutations (131G-->A, W44X). All the three patients with Q190X mutations who were alive and available for evaluation developed neurological disease with decreased cognitive function, and three of four patients who reached 10 years developed epilepsy. In contrast, the patients with the ELA2 and W44X HAX1 mutations, respectively, showed no obvious neurological abnormalities. Moreover, two alternative HAX1 splice variants were identified in normal human tissues, including the brain. Both transcripts contained exon 5, harbouring the Q190X mutation, whereas the 5' end of exon 2 containing the W44X mutation was spliced out from the second transcript. CONCLUSIONS: We describe neurological and neuropsychological abnormalities for the first time in Kostmann disease patients. These central nervous system symptoms appear to be associated with specific HAX1 mutations.
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| 2. |
- Melin, Tomas, et al.
(författare)
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Investigating active vortex generators as a novel high lift device
- 2006
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Ingår i: ICAS-Secretariat - 25th Congress of the International Council of the Aeronautical Sciences 2006. - : Curran Associates, Inc.. ; , s. 1472-1483
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Konferensbidrag (refereegranskat)abstract
- Within the framework of the HELIX programme [1], a study using experimental and numerical tools was employed to simulate the aerodynamic behavior of a transport aircraft wing profile when equipped with deployable Active Vortex Generators (AVGs). The geometry of the investigated concept consists of a single row array of delta wings positioned above the main airfoil, close to the leading edge, see figure 1. The operational hypothesis of this concept is that the vortex pair generated by the shear layer roll-up at the leading edge of the delta wing will translate downwards. Previous wind tunnel results, obtained for a different wing profile, were promising [5], indicating a possible gain in maximum lift coefficient CLmax of about 0.3 with only small increment in drag and beneficiary stall characteristics. The numerical simulations performed were divided into three different cases: cruise, takeoff and landing configurations. The numerical simulation set-up was a 2.5 dimensional workspace, extruding the profile to a width of one vortex generator. An experimental validation was performed at VZLU:s three meter open low speed tunnel facility. The wind tunnel measurements were performed at a Reynold's number of 1.65.106: The results of the investigation showed that the baseline profile, without the AVGs mounted, produced a higher CLmax and a lower drag than the concept investigated. Possibly, the stall behavior of the AVG concept could be said to have better characteristics than the baseline. The conclusion is that the AVG cannot replace the slat on a late generation wing profile.
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| 4. |
- Godfrey, Marjorie M., et al.
(författare)
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Clinical microsystems, Part 3. : Transformation of two hospitals using microsystem, mesosystem, and macrosystem strategies.
- 2008
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Ingår i: Joint Commission Journal on Quality and Patient Safety. - 1553-7250 .- 1938-131X. ; 34:10, s. 591-603
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Two hospitals-a large, urban academic medical center and a rural, community hospital-have each chosen a similar microsystem-based approach to improvement, customizing the engagement of the micro-, meso-, and macrosystems and the improvement targets on the basis of an understanding of the local context. CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER (CCHMC): Since 2004, strategic changes have been developed to support microsystems and their leaders through (1) ongoing improvement training for all macro-, meso-, and microsystem leaders; (2) financial support for physicians who are serving as co-leaders of clinical microsystems; (3) increased emphasis on aligning academic pursuits with improvement work at the clinical front lines; (4) microsystem leaders' continuous access to unit-level data through the organization's intranet; and (5) encouragement of unit leaders to share outcomes data with families.COOLEY DICKINSON HOSPITAL (CDH): CDH has moved from near closure to a survival-turnaround focus, significant engagement in quality and finally, a complete reframing of a quality focus in 2004. Since then, it has deployed the clinical microsystems approach in one pilot care unit (West 2, a medical surgery unit), broadened it to two, then six more, and is now spreading it organizationwide. In "2+2 Charters," interdisciplinary teams address two strategic goals set by senior leadership and two goals set by frontline microsystem leaders and staffDISCUSSION: CCHMC and CDH have had a clear focus on developing alignment, capability, and accountability to fuse together the work at all levels of the hospital, unifying the macrosystem with the mesosystem and microsystem. Their improvement experience suggests tips and actions at all levels of the organization that could be adapted with specific context knowledge by others.
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| 7. |
- Jonsson, C., et al.
(författare)
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Silane-dextran chemistry on lateral flow polymer chips for immunoassays
- 2008
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Ingår i: Lab on a Chip. - : Royal Society of Chemistry (RSC). - 1473-0197 .- 1473-0189. ; 8:7, s. 1191-1197
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Tidskriftsartikel (refereegranskat)abstract
- The prognosis for patients suffering from cardiovascular and many other diseases can be substantially improved if diagnosed at an early stage. High performance diagnostic testing using disposable microfluidic chips can provide a platform for realizing this vision. Åmic AB (Uppsala, Sweden) has developed a new microfluidic test chip for sandwich immunoassays fabricated by injection molding of the cycloolefin-copolymer Zeonor™. A highly ordered array of micropillars within the fluidic chip distributes the sample solution by capillary action. Since wetting of the pillar array surface is the only driving force for liquid distribution precise control of the surface chemistry is crucial. In this work we demonstrate a novel protocol for surface hydrophilization and antibody immobilization on cycloolefin-copolymer test chips, based on direct silanisation of the thermoplastic substrate. Dextran is subsequently covalently coupled to amino groups, thus providing a coating with a low contact angle suitable for antibody immobilization. The contact angle of dextran coated chips is stable for at least two months, which enables production of large batches that can be stored for extended periods of time. We demonstrate the utility of the presented platform and surface chemistry in a C-reactive protein assay with a detection limit of 2.6 ng ml-1, a dynamic range of 102 and a coefficient of variance of 15%. © The Royal Society of Chemistry.
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