53 research outputs found

    Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing

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    Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing.BackgroundAutosomal-dominant medullary cystic kidney disease type 1 (MCKD1) [OMIM 174000] is a hereditary nephropathy that leads to renal salt wasting and end-stage renal failure at a median age of 62 years. In a Welsh MCKD1 kindred we have recently demonstrated linkage to the MCKD1 locus on chromosome 1q23.1 and refined the critical MCKD1 region to <3.3Mb.MethodsIn order to refine the candidate gene region for MCKD1, high-resolution haplotype analysis in three large kindreds with MCKD1 was performed.ResultsWe report here on high-resolution haplotype analysis in this Welsh kindred, as well as in the Arizona kindred, which was used for the first definition of MCKD as a disease entity, and in a kindred from the Dutch/German border. We detected extensive haplotype sharing among all affected individuals of all three kindreds. Scrutinization of the genealogy of the Arizona kindred revealed an origin from Germany in the 17th century, thereby providing historical data for haplotype sharing by descent at the MCKD1 locus.ConclusionUnder the hypothesis of haplotype sharing by descent, we refined the critical genetic interval to <650kb, thus enabling candidate gene analysis

    Collisional and Radiative Processes in Optically Thin Plasmas

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    Most of our knowledge of the physical processes in distant plasmas is obtained through measurement of the radiation they produce. Here we provide an overview of the main collisional and radiative processes and examples of diagnostics relevant to the microphysical processes in the plasma. Many analyses assume a time-steady plasma with ion populations in equilibrium with the local temperature and Maxwellian distributions of particle velocities, but these assumptions are easily violated in many cases. We consider these departures from equilibrium and possible diagnostics in detail

    Variation in neurosurgical management of traumatic brain injury

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    Background: Neurosurgical management of traumatic brain injury (TBI) is challenging, with only low-quality evidence. We aimed to explore differences in neurosurgical strategies for TBI across Europe. Methods: A survey was sent to 68 centers participating in the Collaborative European Neurotrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) study. The questionnaire contained 21 questions, including the decision when to operate (or not) on traumatic acute subdural hematoma (ASDH) and intracerebral hematoma (ICH), and when to perform a decompressive craniectomy (DC) in raised intracranial pressure (ICP). Results: The survey was completed by 68 centers (100%). On average, 10 neurosurgeons work in each trauma center. In all centers, a neurosurgeon was available within 30 min. Forty percent of responders reported a thickness or volume threshold for evacuation of an ASDH. Most responders (78%) decide on a primary DC in evacuating an ASDH during the operation, when swelling is present. For ICH, 3% would perform an evacuation directly to prevent secondary deterioration and 66% only in case of clinical deterioration. Most respondents (91%) reported to consider a DC for refractory high ICP. The reported cut-off ICP for DC in refractory high ICP, however, differed: 60% uses 25 mmHg, 18% 30 mmHg, and 17% 20 mmHg. Treatment strategies varied substantially between regions, specifically for the threshold for ASDH surgery and DC for refractory raised ICP. Also within center variation was present: 31% reported variation within the hospital for inserting an ICP monitor and 43% for evacuating mass lesions. Conclusion: Despite a homogeneous organization, considerable practice variation exists of neurosurgical strategies for TBI in Europe. These results provide an incentive for comparative effectiveness research to determine elements of effective neurosurgical care

    Observability and State Estimation for Multiple Product Control in Semiconductor Manufacturing

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    Optimization of chemical processes

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    Optimal Design of Gas Transmission Networks

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    Optimizing Multiple Pairwise Alignment of Genomic Sequences in Multicore Clusters

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